Variant report for hu034DB1
- Data source: CGI sample GS00253-DNA_A02_200_37
- This report: evidence.pgp-hms.org/genomes?d07d5e667f670c4d039d7fa82cfe8c85897ca67d
- Person ID: hu034DB1
- public profile: my.pgp-hms.org/profile/hu034DB1
- Download: source data, dbSNP and nsSNP report (148 MB)
- Processing status: processing
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Log file:
| Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
|---|---|---|---|---|---|---|---|
| 1 | SCN5A-G615E | High | Uncertain | Uncertain pathogenic Dominant, Heterozygous | 0.000292283 | Rare, reported to be associated with long-QT syndrome (can cause syncopal spells, sudden death as a teenager / young adult), but observations are scattered may have some publication bias. | 1 |
| 2 | MTR-P749S | High | Uncertain | Uncertain pathogenic Unknown, Heterozygous | 0.00102249 | Unreported, predicted to be damaging. Other recessive missense mutations in this gene cause methylcobalamin deficiency. | 1 |
| 3 | C3-R102G | Moderate | Likely | Likely pathogenic Complex/Other, Heterozygous | 0.152073 | This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%. | 1 |
| 4 | HFE-C282Y | Low | Well-established | Well-established pathogenic Recessive, Carrier (Heterozygous) | 0.0494516 | This variant is associated with hereditary haemochromatosis, 80% of patients with that disease are homozygous for this variant. However, the penetrance is low, in Beutler et al. they note that only 1 of their 158 homozygotes met criteria for diagnosis with the condition. | 1 |
| 5 | COL4A1-Q1334H | Low | Likely | Likely pathogenic Dominant, Heterozygous | 0.324689 | This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%. | 1 |
| 6 | MTRR-I49M | Low | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.451199 | This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V. | 1 |
| 7 | rs5186 | Low | Likely | Likely pathogenic Unknown, Homozygous | 0.214878 | This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs. | 1 |
| 8 | MBL2-G54D | Low | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.103923 | This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C). | 1 |
| 9 | WFS1-R611H | Low | Uncertain | Uncertain not reviewed Recessive, Homozygous | 0.400446 | This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.). | 1 |
| 10 | RNASEL-R462Q | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.278026 | Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases. | 1 |
| 11 | CD40LG-G219R | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.0114142 | Study of a single family with X-linked immunodeficiency implicated this variant as causal when combined with XIAP-G466X. The authors' hypothesis is that either variant alone has much less effect, if any. Because 2% of males carry this variant, it is very unlikely that the variant alone has any severe effect. | 1 |
| 12 | TP53-P72R | Low | Uncertain | Uncertain pathogenic Unknown, Homozygous | 0.627743 | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. | 1 |
| 13 | BRCA2-N372H | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.23656 | This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous. | 1 |
| 14 | SP110-L425S | Low | Uncertain | Uncertain pathogenic Unknown, Homozygous | 0.863357 | This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect. | 1 |
| 15 | CLEC7A-Y238X | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.0632088 | This variant has been found to impair homan mucosal antifungal defense and was implicated in vulvovaginal candidiasis and mucocutaneous infections in a Dutch family. | 1 |
| 16 | H6PD-R453Q | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.308886 | This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease). | 1 |
| 17 | BCHE-G418V | High | Well-established | Well-established pharmacogenetic Recessive, Carrier (Heterozygous) | 0.00362521 | This is the "flu-2" variant of BCHE and can cause prolonged post-succinylcholine apnea (an adverse side-effect of prolonged response to anesthesia) when homozygous or compound heterozygous with other deleterious BCHE variants. | 1 |
| 18 | CYP2C9-R144C | Moderate | Well-established | Well-established pharmacogenetic Unknown, Heterozygous | 0.0970982 | This variant, also called CYP2C9*2, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is associated with Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant. | 1 |
| 19 | TPMT-Y240C | Low | Well-established | Well-established pharmacogenetic Complex/Other, Heterozygous | 0.0461825 | Alone, this variant is known as TPMT*3C -- but often, especially in Caucasians, it is found together with another nonsynonymous variant (A154T) to produce the TPMT*3A variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity, although *3C is milder than *3A. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug. | 1 |
| 20 | rs1544410 | Low | Uncertain | Uncertain pharmacogenetic Unknown, Heterozygous | 0.351562 | rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. | 1 |
| 21 | FUT2-W154X | Moderate | Well-established | Well-established protective Recessive, Carrier (Heterozygous) | 0.490519 | This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors. | 1 |
| 22 | PRNP-M129V | Low | Well-established | Well-established protective Complex/Other, Heterozygous | 0.339561 | This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. | 1 |
| 23 | NPC1-H215R | Low | Likely | Likely protective Complex/Other, Heterozygous | 0.295687 | This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). | 1 |
| 24 | CFH-V62I | Low | Likely | Likely protective Complex/Other, Heterozygous | 0.391616 | Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk. | 1 |
| 25 | IL7R-T244I | Low | Likely | Likely protective Unknown, Heterozygous | 0.210169 | The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000). | 1 |
| 26 | TOR1A-D216H | Low | Likely | Likely protective Unknown, Homozygous | 0.102993 | This SNP has been shown to be benign and play a protective role against Dystonia. | 1 |
| 27 | PCSK9-R237W | Low | Uncertain | Uncertain protective Dominant, Heterozygous | 0.00102268 | Reported to cause hypocholesterolemia (a protective effect), but observations had no statistical significance and contradicting evidence exists. | 1 |
| 28 | ARSA-N350S | Low | Well-established | Well-established benign Unknown, Heterozygous | 0.183199 | This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability. | 1 |
| 29 | CACNA1S-L458H | Low | Likely | Likely benign Unknown, Homozygous | 0.27282 | Common polymorphism | 1 |
| 30 | KEL-T193M | Low | Uncertain | Uncertain benign Dominant, Heterozygous | 0.0320692 | This variant is also known as Kell or K1 or K (capitalized) in the Kell antigen system. K1-negative mothers (carrying no copies of this variant) carrying K1-positive fetuses (heterozygous or homozygous) are at risk for hemolytic disease of the newborn. About 9% of caucasians carry one or two copies of K1. | 1 |
| 31 | RPGRIP1-A547S | Low | Uncertain | Uncertain benign Complex/Other, Heterozygous | 0.232202 | Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal. | 1 |
| 32 | HPS1-R263W | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.000557724 | Rare, tentatively evaluated as benign. Polyphen 2 predicts a damaging effect and other variants in this gene cause Hermansky-Pudlak Syndrome in a recessive manner, but these are generally more serious mutations (nonsense or frameshift). | 1 |
| 33 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
| 34 | CYP27A1-P384L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0177542 | Probably not pathogenic. Although predicted to be disruptive and treated by some as pathogenic, reports of this variant in cases were all linked with an upstream frameshift variant -- this supports the variant as a nonpathogenic ancestral polymorphism. | 1 |
| 35 | DNAH5-E758G | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.00847458 | Tentatively evaluated as benign, although predicted to be damaging by Polyphen 2. Other recessive mutations in this gene cause primary ciliary dyskinesia and Kartagener Syndrome (situs inversus, chronic sinusitis, and bronchiectasis), but these are usually more severe (splicing, nonsense, or frameshift). | 1 |
| 36 | DNAH5-E1756K | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.00362521 | Probably benign. | 1 |
| 37 | SPTA1-A970D | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0373134 | This variant, also called alpha-IIa, has been seen frequently in individuals with recessive Hereditary spherocytosis. This appears to be the result of linkage to alpha-LEPRA (a C>T substitution at position -99 of intron 30); A970D is later reported as functionally neutral. | 1 |
| 38 | PTCH1-P1315L | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.29631 | Common polymorphism, presumed benign. | 1 |
| 39 | NOTCH3-V1952M | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.00780814 | Probably benign. | 1 |
| 40 | FANCA-S1088F | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0584681 | Probably benign. One report hypothesized this variant causing Fanconi Anemia, but the allele frequency (3-7%) is high enough to contradict a highly penetrant pathogenic effect. Later authors have concluded this is a polymorphism, not pathogenic. | 1 |
| 41 | ABCC11-G180R | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0976947 | This variant is associated with dry type ear wax (a benign trait) in a recessive manner. | 1 |
| 42 | RP1-N985Y | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.348671 | Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant. | 1 |
| 43 | TAS2R38-I296V | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.463376 | This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC. | 1 |
| 44 | SLC45A2-L374F | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.691764 | Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma. | 1 |
| 45 | TPCN2-G734E | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.286166 | Pigmentation allele. | 1 |
| Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
|---|
Exome coverage: 31215738 / 33212919 = 93.99%
| Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
|---|---|---|---|---|---|---|
| 1 | AGRN | 1 | 0.71407624633431 | 1755 | 6138 | 955553-955753, 957654-957659, 957662-957676, 976045-976260, 976553-976746, 976763-976777, 976858-976888, 976896-976906, 976912, 976917-976923, 977037-977043, 977056-977082, 978645-978648, 978720-978721, 978745, 978749, 978769-978770, 978933, 978998, 979015-979025, 979040-979041, 979049-979057, 979060, 979064-979076, 979093, 979098, 979106, 979347, 979372-979376, 979380-979382, 979402, 979493, 980791-980797, 981242, 981595-981598, 981630, 981777-981783, 981803-982036, 982043, 982046, 982050, 982058, 982070, 982074-982079, 982084, 982089-982107, 982246-982270, 982278, 982281, 983185, 983189, 983192-983195, 983238-983245, 983251-983260, 983396-983453, 983468-983511, 983556-983745, 984249-984255, 984301-984302, 984318-984319, 984326, 984340-984348, 984669-984694, 984701-984702, 984715, 984718, 984771-984795, 984819, 984946-984950, 984955, 984958-984978, 985007, 985017-985018, 985030-985031, 985111, 985127-985128, 985146-985175, 985342-985346, 985351-985364, 985383-985388, 985394-985397, 985613-985651, 985672-985673, 985683, 985690-985694, 986212-986214, 986633-986665, 986687, 986712-986713, 986833-986840, 986845-986875, 986959, 986991-987011, 990249-990252, 990280, 990299-990304, 990316-990320 |
| 2 | GABRD | 1 | 0.92273730684327 | 105 | 1359 | 1950863-1950930, 1957030, 1957037, 1959662-1959664, 1960571-1960578, 1961183, 1961187, 1961196, 1961507-1961509, 1961535-1961540, 1961580-1961588, 1961672, 1961675, 1961704 |
| 3 | PEX10 | 1 | 0.8144750254842 | 182 | 981 | 2337212-2337215, 2337923-2337936, 2337939-2337940, 2338254-2338258, 2339999-2340038, 2340195-2340198, 2340200, 2343830-2343941 |
| 4 | NPHP4 | 1 | 0.97944405512731 | 88 | 4281 | 5923974-5923985, 5934555, 5934712, 5935062-5935071, 5935081-5935100, 5935124-5935126, 5935144, 5935154-5935160, 5937250, 5937256-5937262, 5937273-5937277, 5947381-5947387, 5947492, 5964741, 5964748, 5964751, 5964755-5964762, 6007275 |
| 5 | ESPN | 1 | 0.54697855750487 | 1162 | 2565 | 6485016-6485231, 6485245-6485248, 6485253, 6485256-6485278, 6485290-6485293, 6488319-6488336, 6488378-6488392, 6500392-6500394, 6500413-6500455, 6500462-6500486, 6500686-6500868, 6501004-6501010, 6501029-6501062, 6504640, 6504645, 6505776-6505798, 6505844-6505881, 6505888-6505923, 6508701-6508734, 6508743-6508765, 6508782-6508790, 6508798-6509113, 6509120-6509148, 6511797, 6511808, 6511960, 6512068-6512074, 6512127-6512156, 6520060-6520065, 6520089-6520111, 6520126, 6520131, 6520137, 6520199-6520202 |
| 6 | PLEKHG5 | 1 | 0.8403888366259 | 509 | 3189 | 6527910, 6527913-6527914, 6527924-6527927, 6528011-6528018, 6528028, 6528078, 6528084, 6528091-6528101, 6528105, 6528109-6528114, 6528131-6528132, 6528139, 6528197, 6528200, 6528247-6528255, 6528292-6528294, 6529188, 6529443, 6529455-6529456, 6530337-6530350, 6530372-6530382, 6530613, 6530616-6530619, 6530621, 6530630-6530634, 6530637, 6530687-6530690, 6530693, 6530805, 6530808, 6530811, 6530817, 6530859-6530893, 6530938-6530943, 6531079-6531095, 6531124, 6531130, 6531147, 6531157-6531160, 6531577, 6531581-6531620, 6531650, 6533405, 6533414-6533418, 6534073-6534224, 6534511-6534647, 6557380-6557383 |
| 7 | KIF1B | 1 | 0.99868247694335 | 7 | 5313 | 10357002-10357003, 10425489-10425492, 10435090 |
| 8 | PEX14 | 1 | 0.96119929453263 | 44 | 1134 | 10659331, 10684426-10684460, 10684478, 10684487, 10690014, 10690021, 10690026-10690029 |
| 9 | TARDBP | 1 | 0.99437751004016 | 7 | 1245 | 11082356-11082362 |
| 10 | MASP2 | 1 | 0.99805919456574 | 4 | 2061 | 11103560, 11105503-11105505 |
| 11 | MTHFR | 1 | 0.98833079654997 | 23 | 1971 | 11853973, 11853981, 11853985, 11854129-11854144, 11861325-11861328 |
| 12 | PLOD1 | 1 | 0.98992673992674 | 22 | 2184 | 11994837-11994843, 11994871-11994876, 11994879, 12023666, 12023672-12023675, 12023678, 12024838, 12034774 |
| 13 | MFN2 | 1 | 0.99868073878628 | 3 | 2274 | 12066657-12066659 |
| 14 | CLCNKA | 1 | 0.9375 | 129 | 2064 | 16352710, 16353040, 16353045, 16353059, 16353066-16353067, 16353080-16353081, 16353084-16353098, 16353103-16353108, 16353192-16353270, 16353806, 16356956-16356961, 16357002-16357004, 16358775-16358776, 16358779, 16358956, 16360141-16360147 |
| 15 | CLCNKB | 1 | 0.98837209302326 | 24 | 2064 | 16374499, 16374533, 16375059, 16375063-16375064, 16378792-16378798, 16378861, 16381996, 16382170-16382179 |
| 16 | ATP13A2 | 1 | 0.95766299745978 | 150 | 3543 | 17312740, 17312743, 17312769-17312793, 17313114-17313115, 17313306, 17313319, 17313357-17313360, 17313365, 17313369, 17313372-17313375, 17313427-17313451, 17313598-17313636, 17313648, 17313651-17313654, 17313672-17313674, 17313677-17313678, 17314963-17314965, 17314969, 17318342, 17318787-17318793, 17320274-17320275, 17320284-17320285, 17322556-17322560, 17322563-17322564, 17322572, 17322578, 17322581-17322582, 17326548, 17326557-17326559, 17326563, 17328548, 17331287, 17331315 |
| 17 | SDHB | 1 | 0.9988137603796 | 1 | 843 | 17350534 |
| 18 | ALDH4A1 | 1 | 0.96394799054374 | 61 | 1692 | 19203971-19203974, 19203980, 19203983, 19204023-19204032, 19204058-19204084, 19228984-19228987, 19228993-19228998, 19229001-19229003, 19229011-19229015 |
| 19 | PINK1 | 1 | 0.77777777777778 | 388 | 1746 | 20960042-20960428, 20964577 |
| 20 | ALPL | 1 | 0.96571428571429 | 54 | 1575 | 21889631, 21900171, 21903876-21903879, 21903891-21903898, 21903939-21903964, 21904079-21904092 |
| 21 | HSPG2 | 1 | 0.97199453551913 | 369 | 13176 | 22150120, 22150142-22150143, 22150160, 22155975, 22156505, 22157488-22157536, 22165418, 22165424-22165428, 22165434, 22165436-22165439, 22165451, 22166365-22166385, 22168582-22168618, 22168770-22168778, 22170693, 22175284, 22181414-22181417, 22181422, 22181456-22181476, 22182032, 22182035, 22182038-22182048, 22182056, 22182059-22182061, 22188287, 22191454, 22191457, 22191464, 22191534-22191561, 22191814, 22191825, 22198751, 22199113-22199124, 22199131, 22199141-22199157, 22199161-22199170, 22199173, 22199504-22199510, 22199521-22199525, 22199528, 22200428, 22200432-22200438, 22200908, 22202232-22202239, 22207008-22207016, 22207307, 22211140, 22211153-22211155, 22211161-22211166, 22213996, 22263648-22263710 |
| 22 | WNT4 | 1 | 0.85606060606061 | 152 | 1056 | 22446663, 22446670-22446676, 22446698-22446747, 22446765-22446774, 22447010, 22447975-22447977, 22448057-22448058, 22448063, 22469339-22469415 |
| 23 | GALE | 1 | 0.96848137535817 | 33 | 1047 | 24122656-24122682, 24122755, 24125433-24125436, 24125443 |
| 24 | HMGCL | 1 | 0.98875255623722 | 11 | 978 | 24134707-24134714, 24134721, 24134726, 24151863 |
| 25 | FUCA1 | 1 | 0.88151320485368 | 166 | 1401 | 24172274-24172277, 24172282-24172285, 24194388-24194433, 24194448-24194502, 24194508-24194518, 24194530-24194546, 24194555-24194558, 24194628-24194636, 24194678, 24194725-24194727, 24194738-24194746, 24194751-24194753 |
| 26 | LDLRAP1 | 1 | 0.86623516720604 | 124 | 927 | 25870190-25870277, 25890156-25890164, 25893339-25893353, 25893472-25893483 |
| 27 | SEPN1 | 1 | 0.89028776978417 | 183 | 1668 | 26126722-26126904 |
| 28 | HPCA | 1 | 0.85910652920962 | 82 | 582 | 33359161-33359167, 33359389-33359463 |
| 29 | GJB4 | 1 | 0.99001248439451 | 8 | 801 | 35226875, 35227049-35227052, 35227265, 35227349-35227350 |
| 30 | GJB3 | 1 | 0.99507995079951 | 4 | 813 | 35251078-35251081 |
| 31 | PPT1 | 1 | 0.99891422366992 | 1 | 921 | 40562823 |
| 32 | COL9A2 | 1 | 0.93719806763285 | 130 | 2070 | 40768378, 40769488, 40769491-40769497, 40769602-40769604, 40769609-40769624, 40773123, 40777180-40777183, 40777188-40777189, 40777198-40777201, 40777207, 40777356-40777362, 40781271, 40781277, 40781281, 40781287-40781288, 40781298-40781305, 40781308, 40781312-40781336, 40782801-40782804, 40782830-40782869 |
| 33 | KCNQ4 | 1 | 0.75478927203065 | 512 | 2088 | 41249766-41250063, 41250074-41250079, 41284177-41284185, 41284214-41284221, 41284248-41284255, 41284257-41284259, 41284281, 41284284-41284291, 41284300, 41284303-41284323, 41284340-41284352, 41285576, 41289800, 41296758-41296761, 41296918-41296919, 41296970, 41296973, 41303349-41303355, 41303413-41303419, 41303983-41304016, 41304022-41304084, 41304116-41304123, 41304131-41304137 |
| 34 | CLDN19 | 1 | 0.96592592592593 | 23 | 675 | 43201565-43201571, 43201574-43201584, 43201637-43201639, 43205638, 43205641 |
| 35 | LEPRE1 | 1 | 0.88059701492537 | 264 | 2211 | 43212431, 43212436, 43232253-43232264, 43232270, 43232279-43232307, 43232315, 43232331-43232339, 43232346-43232347, 43232360-43232431, 43232441-43232448, 43232453, 43232457-43232459, 43232466-43232474, 43232480-43232485, 43232489, 43232493-43232502, 43232512, 43232521-43232523, 43232539-43232575, 43232586-43232642 |
| 36 | SLC2A1 | 1 | 0.98039215686275 | 29 | 1479 | 43395264, 43395292-43395297, 43395338-43395339, 43395346, 43395662, 43424305-43424322 |
| 37 | MPL | 1 | 0.97222222222222 | 53 | 1908 | 43803845, 43803848-43803855, 43803858-43803863, 43806158, 43806177-43806183, 43814517, 43814661-43814663, 43814666-43814668, 43814945-43814946, 43814951-43814955, 43814965-43814967, 43814970-43814978, 43814994, 43815000-43815002 |
| 38 | MUTYH | 1 | 0.9955385595921 | 7 | 1569 | 45797156, 45797161-45797163, 45797166, 45798304, 45799233 |
| 39 | POMGNT1 | 1 | 0.99546142208775 | 9 | 1983 | 46660262-46660266, 46660583-46660586 |
| 40 | STIL | 1 | 0.99637962244634 | 14 | 3867 | 47725990, 47748114, 47748117, 47748124-47748131, 47753331, 47767953-47767954 |
| 41 | ORC1 | 1 | 0.99613302397525 | 10 | 2586 | 52850317, 52850322-52850328, 52851536-52851537 |
| 42 | CPT2 | 1 | 0.97369752149722 | 52 | 1977 | 53662620-53662624, 53662627-53662644, 53662690-53662717, 53662762 |
| 43 | DHCR24 | 1 | 0.84912959381044 | 234 | 1551 | 55319779, 55337099, 55341692, 55352562-55352792 |
| 44 | BSND | 1 | 0.98857736240914 | 11 | 963 | 55464864-55464873, 55464922 |
| 45 | PCSK9 | 1 | 0.96681096681097 | 69 | 2079 | 55505530, 55505541-55505547, 55505552-55505556, 55505562, 55505574-55505577, 55505588-55505590, 55505594, 55505715-55505717, 55509598, 55509618, 55512315-55512319, 55521714-55521717, 55521782-55521797, 55521806-55521807, 55521810-55521813, 55524240, 55524249-55524251, 55529185-55529187, 55529190-55529193 |
| 46 | ALG6 | 1 | 0.99803921568627 | 3 | 1530 | 63876899, 63876979, 63881552 |
| 47 | LEPR | 1 | 0.99828473413379 | 6 | 3498 | 66036170, 66036173, 66038122, 66064466, 66064469-66064470 |
| 48 | RPE65 | 1 | 0.99937578027466 | 1 | 1602 | 68914359 |
| 49 | CTH | 1 | 0.98768472906404 | 15 | 1218 | 70883669, 70883672, 70883684, 70904493-70904504 |
| 50 | ACADM | 1 | 0.99530516431925 | 6 | 1278 | 76198368-76198369, 76228445-76228448 |
| 51 | GLMN | 1 | 0.99327731092437 | 12 | 1785 | 92732010-92732019, 92732283, 92752122 |
| 52 | RPL5 | 1 | 0.99664429530201 | 3 | 894 | 93300449-93300450, 93307412 |
| 53 | ABCA4 | 1 | 0.99149809440047 | 58 | 6822 | 94461686, 94461691, 94467418, 94467422-94467425, 94467428-94467429, 94495026-94495039, 94497399-94497403, 94497408-94497422, 94497426-94497438, 94497485, 94497527 |
| 54 | DPYD | 1 | 0.99675113710201 | 10 | 3078 | 97847955-97847961, 98060690, 98157346, 98293682 |
| 55 | AGL | 1 | 0.99086757990868 | 42 | 4599 | 100327910, 100340926, 100358103, 100358109, 100377961-100377974, 100377991-100378013, 100382195 |
| 56 | DBT | 1 | 0.99447895100069 | 8 | 1449 | 100684289-100684296 |
| 57 | COL11A1 | 1 | 0.95308777716694 | 256 | 5457 | 103356009, 103356012-103356013, 103356056, 103364222-103364329, 103364509, 103364540-103364550, 103377730-103377751, 103379918, 103380297, 103380303-103380305, 103380309, 103380314-103380316, 103380323, 103388907, 103400030, 103405892, 103412427, 103412446, 103412455, 103412458-103412459, 103412471-103412472, 103412475-103412479, 103412489, 103428268, 103435775-103435782, 103435794-103435802, 103435805, 103435818-103435828, 103440412-103440419, 103461560-103461566, 103468790-103468794, 103471818-103471847, 103471867, 103488382, 103548482, 103548497 |
| 58 | GSTM1 | 1 | 0.10502283105023 | 588 | 657 | 110230496-110230531, 110230792-110230825, 110230834-110230867, 110231295-110231359, 110231670-110231697, 110231710-110231751, 110231847-110231947, 110232893-110232988, 110233076-110233186, 110235877-110235917 |
| 59 | NGF | 1 | 0.97245179063361 | 20 | 726 | 115828788, 115829228-115829233, 115829250, 115829253, 115829256-115829265, 115829269 |
| 60 | VANGL1 | 1 | 0.99174603174603 | 13 | 1575 | 116226585-116226587, 116226592-116226594, 116226638-116226641, 116226645, 116228012, 116228103 |
| 61 | CASQ2 | 1 | 0.975 | 30 | 1200 | 116243909-116243934, 116244024-116244026, 116269613 |
| 62 | NOTCH2 | 1 | 0.96561488673139 | 255 | 7416 | 120457968, 120465046-120465048, 120465051-120465053, 120539665-120539714, 120539738-120539745, 120539778-120539785, 120539834-120539840, 120539913-120539939, 120548022-120548028, 120548048-120548076, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120611950-120612020 |
| 63 | HFE2 | 1 | 0.99375487900078 | 8 | 1281 | 145415575-145415582 |
| 64 | PRPF3 | 1 | 0.9990253411306 | 2 | 2052 | 150315901, 150315906 |
| 65 | FLG | 1 | 0.98949614311505 | 128 | 12186 | 152276297, 152277240, 152277432, 152278226-152278247, 152278407-152278437, 152279207-152279219, 152279403-152279409, 152280142-152280147, 152280155-152280166, 152280179-152280188, 152280310, 152280321, 152280344, 152281155, 152281323, 152281326, 152281578, 152282126-152282132, 152282286-152282289, 152282297, 152284072-152284074, 152284235, 152286191 |
| 66 | HAX1 | 1 | 0.97142857142857 | 24 | 840 | 154245860-154245883 |
| 67 | CHRNB2 | 1 | 0.93969516235918 | 91 | 1509 | 154540530-154540539, 154540543-154540550, 154540559, 154540563-154540566, 154543866, 154543883-154543884, 154543891, 154544113, 154544347, 154544363, 154544366, 154544370, 154544373-154544397, 154544411-154544413, 154544430-154544432, 154544445-154544448, 154544474-154544477, 154544532-154544539, 154544543, 154544552-154544562 |
| 68 | GBA | 1 | 0.99937926753569 | 1 | 1611 | 155205043 |
| 69 | PKLR | 1 | 0.98550724637681 | 25 | 1725 | 155260383, 155260385-155260386, 155261691-155261696, 155269968-155269970, 155269989-155269991, 155269997-155269998, 155270002, 155270009-155270014, 155270033 |
| 70 | LMNA | 1 | 0.94885361552028 | 29 | 567 | 156105045-156105053, 156105080-156105083, 156105753-156105761, 156106096, 156106133, 156106138-156106139, 156106144-156106146 |
| 71 | LMNA | 1 | 0.91929824561404 | 161 | 1995 | 156084714-156084761, 156084777-156084783, 156084850-156084853, 156084978-156085014, 156105045-156105053, 156105080-156105083, 156105753-156105761, 156106096, 156106133, 156106138-156106139, 156106144-156106146, 156108296, 156108299, 156108304-156108336, 156108515 |
| 72 | SEMA4A | 1 | 0.98512685914261 | 34 | 2286 | 156124437, 156124441-156124444, 156131137-156131140, 156131230-156131231, 156131278, 156131282-156131287, 156146295-156146298, 156146527-156146537, 156146543 |
| 73 | NTRK1 | 1 | 0.91928063571727 | 193 | 2391 | 156830727-156830881, 156830923-156830929, 156838351-156838359, 156843436-156843438, 156843475-156843476, 156843595-156843605, 156843685, 156848988-156848990, 156851333, 156851336 |
| 74 | ATP1A2 | 1 | 0.99902056807052 | 3 | 3063 | 160090772, 160100304-160100305 |
| 75 | PPOX | 1 | 0.99372384937238 | 9 | 1434 | 161136674-161136682 |
| 76 | NDUFS2 | 1 | 0.99712643678161 | 4 | 1392 | 161172220-161172223 |
| 77 | MPZ | 1 | 0.84942084942085 | 117 | 777 | 161275699-161275700, 161275733-161275736, 161275742, 161275903, 161275907, 161276153, 161276157-161276163, 161276188-161276193, 161279629-161279722 |
| 78 | DDR2 | 1 | 0.99922118380062 | 2 | 2568 | 162688871, 162688884 |
| 79 | TBX19 | 1 | 0.9985152190052 | 2 | 1347 | 168260554-168260555 |
| 80 | SLC19A2 | 1 | 0.97255689424364 | 41 | 1494 | 169454852, 169454861-169454862, 169454885-169454893, 169454937-169454938, 169454941, 169454944-169454948, 169454953-169454960, 169454965-169454976, 169454980 |
| 81 | F5 | 1 | 0.99535580524345 | 31 | 6675 | 169497298-169497309, 169509551, 169510337-169510343, 169510472-169510478, 169555512-169555515 |
| 82 | FMO3 | 1 | 0.99937460913071 | 1 | 1599 | 171061858 |
| 83 | MYOC | 1 | 0.9973597359736 | 4 | 1515 | 171621461-171621463, 171621704 |
| 84 | FASLG | 1 | 0.99881796690307 | 1 | 846 | 172628407 |
| 85 | DARS2 | 1 | 0.98864809081527 | 22 | 1938 | 173794459, 173814402-173814422 |
| 86 | NPHS2 | 1 | 0.84461805555556 | 179 | 1152 | 179544821-179544999 |
| 87 | LHX4 | 1 | 0.97442455242967 | 30 | 1173 | 180199665-180199667, 180199673-180199676, 180199683, 180199690, 180199692, 180199702, 180241090-180241108 |
| 88 | RNASEL | 1 | 0.99595687331536 | 9 | 2226 | 182554945-182554949, 182554955-182554957, 182555269 |
| 89 | LAMC2 | 1 | 0.99525404801787 | 17 | 3582 | 183155498, 183155501, 183155503-183155505, 183155508, 183155513-183155518, 183155549, 183155552, 183184677, 183206617-183206618 |
| 90 | HMCN1 | 1 | 0.9971611071682 | 48 | 16908 | 185704122, 185962380, 185970481, 185972909, 185972914-185972916, 185972927-185972935, 185984375, 186007157, 186008063, 186022127, 186034511, 186037052-186037055, 186057761-186057764, 186077665-186077675, 186086655, 186094916-186094917, 186120856, 186135357, 186147848-186147850 |
| 91 | PDC | 1 | 0.9919028340081 | 6 | 741 | 186418586-186418591 |
| 92 | CDC73 | 1 | 0.99812030075188 | 3 | 1596 | 193094306, 193111040, 193111051 |
| 93 | CFH | 1 | 0.98051948051948 | 72 | 3696 | 196658727-196658744, 196659193-196659206, 196659275, 196659294-196659295, 196706748-196706751, 196716334-196716359, 196716389-196716395 |
| 94 | CFHR1 | 1 | 0.99496475327291 | 5 | 993 | 196797238, 196797244, 196799650-196799651, 196801078 |
| 95 | CFHR5 | 1 | 0.96315789473684 | 63 | 1710 | 196953092, 196953110-196953140, 196953169-196953195, 196953240, 196953244, 196963318, 196967395 |
| 96 | ASPM | 1 | 0.98897834004217 | 115 | 10434 | 197056085, 197057527, 197057542, 197060031-197060037, 197093244-197093250, 197094046, 197094082, 197101449-197101481, 197104314-197104331, 197111991, 197112794-197112801, 197113188, 197115271-197115272, 197115284-197115290, 197115312, 197115481-197115488, 197115497, 197115503-197115514, 197115519-197115522 |
| 97 | CACNA1S | 1 | 0.98737104233369 | 71 | 5622 | 201009379-201009384, 201009392-201009395, 201009838, 201022679, 201038623, 201081316-201081358, 201081386-201081390, 201081393-201081394, 201081400, 201081404, 201081407-201081408, 201081411-201081413, 201081434 |
| 98 | PKP1 | 1 | 0.99816597890876 | 4 | 2181 | 201282467-201282469, 201286771 |
| 99 | TNNT2 | 1 | 0.9954954954955 | 4 | 888 | 201333434-201333437 |
| 100 | CD46 | 1 | 0.99916666666667 | 1 | 1200 | 207943688 |
| 101 | LAMB3 | 1 | 0.98380221653879 | 57 | 3519 | 209788702-209788703, 209790785, 209791829-209791831, 209796345-209796350, 209796430-209796436, 209797003-209797007, 209797015, 209799119-209799124, 209799133-209799134, 209800257, 209800302, 209800781-209800802 |
| 102 | RD3 | 1 | 0.99319727891156 | 4 | 588 | 211652493, 211652531-211652533 |
| 103 | USH2A | 1 | 0.98923697866615 | 168 | 15609 | 215820970-215820972, 215820978, 215820981-215820988, 215901581, 215916519-215916524, 215916541-215916582, 215916603-215916645, 215956198, 215956207, 216061807-216061809, 216061814-216061815, 216061821-216061822, 216061826-216061833, 216251496-216251501, 216251505, 216251511-216251516, 216496865-216496894, 216496915, 216496947, 216497667, 216592003 |
| 104 | LBR | 1 | 0.99945887445887 | 1 | 1848 | 225609884 |
| 105 | PSEN2 | 1 | 0.96362286562732 | 49 | 1347 | 227069701, 227071408, 227071412, 227071415, 227071467-227071482, 227071592-227071620 |
| 106 | ADCK3 | 1 | 0.97119341563786 | 56 | 1944 | 227152827, 227152831, 227152860, 227152863, 227152904-227152908, 227169788-227169789, 227171553-227171555, 227171795-227171802, 227171816, 227171819-227171820, 227171853, 227171899-227171915, 227171924-227171936 |
| 107 | GJC2 | 1 | 0.2030303030303 | 1052 | 1320 | 228345460-228345530, 228345536-228345549, 228345557-228345609, 228345615, 228345618-228345624, 228345645-228345701, 228345708-228345716, 228345723-228345862, 228345880-228345892, 228345900-228346180, 228346188-228346300, 228346321, 228346333-228346617, 228346625-228346631 |
| 108 | ACTA1 | 1 | 0.74514991181658 | 289 | 1134 | 229567547, 229567554, 229567641, 229567761-229567824, 229567849-229567884, 229567890-229567932, 229568017-229568088, 229568110-229568123, 229568129, 229568143, 229568155-229568178, 229568400, 229568403-229568406, 229568440-229568465 |
| 109 | AGT | 1 | 0.99657064471879 | 5 | 1458 | 230838898, 230838907-230838910 |
| 110 | GNPAT | 1 | 0.9995105237396 | 1 | 2043 | 231411032 |
| 111 | LYST | 1 | 0.98553392951078 | 165 | 11406 | 235866136-235866138, 235866158, 235866165, 235875374-235875378, 235875391, 235875448-235875449, 235875462-235875497, 235896809, 235896965-235896969, 235897147, 235897861-235897870, 235944190, 235944222, 235944244, 235944256-235944261, 235944264-235944267, 235950506, 235950518-235950559, 235967840, 235970048-235970072, 235972034-235972042, 235973220, 235973239, 235973244-235973249 |
| 112 | ACTN2 | 1 | 0.93780260707635 | 167 | 2685 | 236849974-236850099, 236907975-236907992, 236908023-236908024, 236908029, 236914804, 236917297-236917303, 236917377, 236925833-236925841, 236925851-236925852 |
| 113 | MTR | 1 | 0.99657714586625 | 13 | 3798 | 237013675-237013683, 237054574, 237060942-237060944 |
| 114 | RYR2 | 1 | 0.98416532474503 | 236 | 14904 | 237205822-237205869, 237619944-237619946, 237619949, 237619952-237619953, 237656271, 237656323, 237729867-237729879, 237791136, 237791151, 237791173, 237791181, 237791184, 237791276-237791280, 237796916, 237813274-237813281, 237819163-237819183, 237819214-237819221, 237821244-237821317, 237824171-237824203, 237838089-237838092, 237838095, 237881785-237881787, 237881792-237881793, 237890408, 237890426 |
| 115 | FH | 1 | 0.94390084801044 | 86 | 1533 | 241661137-241661142, 241661228-241661233, 241661238-241661241, 241672047-241672048, 241676947-241676972, 241682941-241682982 |
| 116 | NLRP3 | 1 | 0.98907103825137 | 34 | 3111 | 247582217-247582247, 247588283-247588285 |
| 117 | NET1 | 10 | 0.9715242881072 | 51 | 1791 | 5454672-5454676, 5454695-5454702, 5454708-5454709, 5454726-5454744, 5454750-5454760, 5454767, 5454774-5454776, 5471133-5471134 |
| 118 | GATA3 | 10 | 0.9498127340824 | 67 | 1335 | 8097648-8097650, 8097653, 8097677-8097682, 8097705-8097712, 8097743-8097763, 8097794, 8097839, 8097846-8097859, 8100727-8100728, 8100745-8100751, 8100764-8100766 |
| 119 | OPTN | 10 | 0.9919261822376 | 14 | 1734 | 13152356-13152369 |
| 120 | PHYH | 10 | 0.94788593903638 | 53 | 1017 | 13341968-13341998, 13342016-13342025, 13342031-13342042 |
| 121 | CUBN | 10 | 0.99540103016924 | 50 | 10872 | 16878269-16878270, 16882332, 16882347, 16882354, 16882357-16882362, 16941088-16941092, 16982215, 17032468-17032488, 17032501, 17085887, 17085919-17085922, 17142036, 17142039-17142042, 17142092 |
| 122 | PTF1A | 10 | 0.24316109422492 | 747 | 987 | 23481460-23482185, 23482197, 23482728, 23482770-23482771, 23482776, 23482820-23482835 |
| 123 | MYO3A | 10 | 0.99154813440528 | 41 | 4851 | 26241185-26241190, 26241194, 26355987-26355995, 26357747-26357748, 26385318-26385320, 26446277-26446280, 26446283-26446287, 26500809-26500816, 26500857-26500859 |
| 124 | PDSS1 | 10 | 0.89182692307692 | 135 | 1248 | 26986657, 26986667-26986668, 26986671-26986672, 26986678-26986769, 26994250-26994286, 27035400 |
| 125 | RET | 10 | 0.96053811659193 | 132 | 3345 | 43572707-43572779, 43596003-43596010, 43596035, 43596038-43596039, 43600495-43600497, 43600521-43600524, 43600585, 43600591, 43600599-43600600, 43601939-43601941, 43609075-43609079, 43609090-43609093, 43615073, 43615089-43615090, 43619119-43619124, 43619129, 43619133-43619139, 43622062-43622069 |
| 126 | ERCC6 | 10 | 0.98482820169567 | 68 | 4482 | 50667031, 50667051, 50667113-50667118, 50667123-50667125, 50681033, 50691443-50691450, 50691490, 50708695-50708696, 50708714, 50713936, 50740789-50740798, 50740811-50740832, 50740835-50740845 |
| 127 | CHAT | 10 | 0.89497107254117 | 236 | 2247 | 50822247-50822257, 50822266-50822439, 50822447-50822453, 50822500-50822501, 50827908-50827910, 50833672, 50857587-50857622, 50873013-50873014 |
| 128 | PCDH15 | 10 | 0.97520801494311 | 146 | 5889 | 55587204-55587208, 55587211, 55587233-55587249, 55587253, 55626408-55626412, 55782857-55782870, 55826517-55826528, 55973699, 55973731-55973760, 56128890-56128895, 56128898-56128925, 56128942, 56129015, 56129024, 56138634-56138637, 56138651-56138666, 56287574-56287576 |
| 129 | EGR2 | 10 | 0.92522711390636 | 107 | 1431 | 64573003-64573043, 64573051-64573057, 64573336-64573340, 64573345, 64573350-64573352, 64573357-64573360, 64573363, 64573376, 64573379-64573381, 64573385, 64573394, 64573474-64573511, 64573560 |
| 130 | KIAA1279 | 10 | 0.9962486602358 | 7 | 1866 | 70748637, 70748948, 70748953, 70748956-70748958, 70748962 |
| 131 | NODAL | 10 | 0.99425287356322 | 6 | 1044 | 72201231-72201234, 72201349-72201350 |
| 132 | PRF1 | 10 | 0.96762589928058 | 54 | 1668 | 72358254-72358255, 72358258, 72358270, 72358273-72358274, 72358338-72358366, 72358559, 72358733-72358735, 72358738, 72358851-72358858, 72360395-72360400 |
| 133 | PCBD1 | 10 | 0.99047619047619 | 3 | 315 | 72648288-72648290 |
| 134 | SLC29A3 | 10 | 0.99019607843137 | 14 | 1428 | 73079067, 73115937-73115942, 73115964, 73115973-73115978 |
| 135 | CDH23 | 10 | 0.9895584725537 | 105 | 10056 | 73375356, 73464770, 73464867-73464887, 73550105-73550106, 73550116-73550119, 73550124-73550133, 73565648, 73565722-73565724, 73565727-73565734, 73565737-73565742, 73565931-73565962, 73572539, 73573001-73573014, 73574845 |
| 136 | VCL | 10 | 0.9697503671072 | 103 | 3405 | 75757975-75757980, 75757991, 75758008-75758018, 75758024, 75758030, 75758038-75758064, 75758085-75758091, 75758103, 75758105, 75758112-75758130, 75758132-75758133, 75854117-75854132, 75873959-75873966, 75873971, 75873980 |
| 137 | LDB3 | 10 | 0.93315018315018 | 146 | 2184 | 88441392-88441393, 88441398-88441409, 88441432-88441435, 88466334-88466342, 88476084-88476091, 88476103-88476109, 88476164-88476188, 88476199, 88476209, 88476229, 88476237-88476240, 88476321-88476355, 88476380, 88476395, 88476432, 88476435, 88476477-88476509 |
| 138 | BMPR1A | 10 | 0.98811757348343 | 19 | 1599 | 88649925, 88649928, 88683133-88683149 |
| 139 | GLUD1 | 10 | 0.7298747763864 | 453 | 1677 | 88834309, 88836362-88836368, 88854082-88854526 |
| 140 | PTEN | 10 | 0.996699669967 | 4 | 1212 | 89692941, 89692949, 89720651-89720652 |
| 141 | LIPA | 10 | 0.99583333333333 | 5 | 1200 | 90974620-90974621, 90987999, 90988076, 90988093 |
| 142 | ANKRD1 | 10 | 0.971875 | 27 | 960 | 92675637, 92675962-92675968, 92675972, 92675988, 92678659, 92678924-92678925, 92678981-92678984, 92678991, 92679000, 92679007, 92679010-92679012, 92679016-92679019 |
| 143 | PDE6C | 10 | 0.99689561505627 | 8 | 2577 | 95372734, 95415584-95415590 |
| 144 | ZFYVE27 | 10 | 0.97653721682848 | 29 | 1236 | 99504537, 99504556, 99508055, 99512825-99512826, 99512829-99512837, 99512864-99512868, 99512910, 99512913-99512919, 99512930, 99512938 |
| 145 | HPS1 | 10 | 0.98243114909782 | 37 | 2106 | 100177337-100177339, 100177350-100177353, 100177360-100177363, 100177366, 100177370-100177379, 100183547-100183553, 100185361, 100185372, 100185380, 100189590-100189592, 100189600, 100190920 |
| 146 | COX15 | 10 | 0.99837793998378 | 2 | 1233 | 101476139, 101476142 |
| 147 | ABCC2 | 10 | 0.998921949116 | 5 | 4638 | 101610435-101610439 |
| 148 | PAX2 | 10 | 0.97844495765974 | 28 | 1299 | 102586766-102586773, 102587323-102587324, 102587339-102587342, 102587345, 102587348-102587350, 102587353-102587357, 102587436-102587440 |
| 149 | C10orf2 | 10 | 0.99513381995134 | 10 | 2055 | 102750752-102750753, 102750756-102750763 |
| 150 | FBXW4 | 10 | 0.90960451977401 | 112 | 1239 | 103371151, 103371155, 103371452-103371455, 103371458-103371459, 103454154, 103454168-103454171, 103454175, 103454179, 103454186-103454189, 103454194-103454196, 103454199, 103454208, 103454214, 103454243-103454259, 103454290-103454338, 103454351-103454360, 103454376-103454386 |
| 151 | HPS6 | 10 | 0.75343642611684 | 574 | 2328 | 103825232-103825583, 103825597, 103825600, 103825612, 103825624-103825671, 103825679-103825726, 103825740, 103825747, 103825753-103825758, 103825769-103825843, 103825846, 103825984, 103826006, 103826012-103826013, 103826037-103826044, 103826050-103826058, 103826176-103826179, 103826182, 103826234-103826236, 103826275-103826276, 103826336, 103826695-103826696, 103826702, 103826708, 103826985, 103827015, 103827231 |
| 152 | SUFU | 10 | 0.90996563573883 | 131 | 1455 | 104263910-104264016, 104264025-104264043, 104264079-104264083 |
| 153 | COL17A1 | 10 | 0.97663551401869 | 105 | 4494 | 105793007-105793014, 105796805-105796814, 105798247-105798248, 105798251-105798253, 105816767-105816774, 105816791-105816849, 105819444-105819458 |
| 154 | HABP2 | 10 | 0.99881164587047 | 2 | 1683 | 115341879, 115341883 |
| 155 | EMX2 | 10 | 0.58234519104084 | 317 | 759 | 119302779-119303089, 119303107-119303111, 119303177 |
| 156 | BAG3 | 10 | 0.87905092592593 | 209 | 1728 | 121411188-121411367, 121431837-121431843, 121431961, 121432002-121432019, 121436335-121436336, 121436738 |
| 157 | FGFR2 | 10 | 0.99634591961023 | 9 | 2463 | 123274677-123274681, 123279616-123279619 |
| 158 | ARMS2 | 10 | 0.99691358024691 | 1 | 324 | 124214487 |
| 159 | HTRA1 | 10 | 0.70755370755371 | 422 | 1443 | 124221169-124221517, 124221526, 124221553-124221613, 124221628-124221636, 124266214, 124266332 |
| 160 | ACADSB | 10 | 0.99230177059276 | 10 | 1299 | 124768577-124768583, 124810604, 124810701-124810702 |
| 161 | UROS | 10 | 0.9937343358396 | 5 | 798 | 127477446-127477447, 127477451-127477452, 127503617 |
| 162 | TALDO1 | 11 | 0.89644970414201 | 105 | 1014 | 747482-747578, 763344-763345, 763390, 763398, 763403-763404, 763425, 764349 |
| 163 | SLC25A22 | 11 | 0.809670781893 | 185 | 972 | 791916-791951, 792188, 792204, 792208, 792211-792214, 792309-792313, 792321-792330, 792348, 792407-792408, 792565, 792586-792613, 792616-792629, 792635, 792639-792643, 792652-792687, 792691-792703, 792706, 792725-792726, 792935-792940, 792944, 794787-794792, 794805-794813, 794988 |
| 164 | PNPLA2 | 11 | 0.62508250825083 | 568 | 1515 | 819719-819905, 823742-823753, 823791-823805, 823998-824003, 824013-824015, 824018, 824029-824074, 824091-824128, 824319, 824328-824330, 824333-824337, 824363-824379, 824411-824436, 824533-824546, 824559-824608, 824621-824679, 824720, 824725-824741, 824744-824751, 824785-824842, 824862 |
| 165 | CTSD | 11 | 0.81598062953995 | 228 | 1239 | 1774733-1774755, 1775033-1775039, 1775048-1775055, 1775068-1775103, 1775224-1775228, 1775238-1775244, 1775265-1775270, 1775276-1775295, 1775311-1775318, 1775329-1775367, 1780205, 1785022-1785089 |
| 166 | TNNI2 | 11 | 0.86520947176685 | 74 | 549 | 1861465, 1861468, 1861639, 1861655, 1861658-1861660, 1861667-1861668, 1861760, 1861776, 1861807, 1861841, 1861850, 1862060-1862061, 1862066-1862087, 1862095-1862100, 1862103, 1862309-1862336, 1862374 |
| 167 | TNNT3 | 11 | 0.9021879021879 | 76 | 777 | 1946329-1946346, 1955218-1955221, 1955232-1955238, 1959674-1959720 |
| 168 | H19 | 11 | 0.7703081232493 | 246 | 1071 | 2017309-2017324, 2017420-2017421, 2017532, 2017607-2017637, 2017754-2017762, 2017776-2017811, 2017822-2017831, 2017838-2017842, 2017853, 2017857, 2017886, 2017902-2017915, 2017923-2017927, 2017995-2018000, 2018040-2018070, 2018083-2018156, 2018168, 2018171, 2018336 |
| 169 | IGF2 | 11 | 0.74964838255977 | 178 | 711 | 2154323-2154326, 2154374, 2154377-2154380, 2156652-2156658, 2161365-2161526 |
| 170 | TH | 11 | 0.86539682539683 | 212 | 1575 | 2186556-2186557, 2186564, 2187710-2187779, 2187863-2187866, 2187887-2187888, 2187892, 2187920-2187922, 2187945, 2187949-2187950, 2187959-2187985, 2187998, 2188125-2188131, 2188218, 2189742, 2190906, 2191010, 2191014-2191018, 2191023, 2191035-2191045, 2191048-2191055, 2191920-2191939, 2191948-2191970, 2191982-2192000 |
| 171 | KCNQ1 | 11 | 0.82077794190054 | 364 | 2031 | 2466329-2466622, 2466630-2466634, 2466642-2466649, 2466654, 2466658-2466679, 2466692, 2591948-2591954, 2606526, 2608898, 2869101-2869116, 2869198, 2869203, 2869212-2869215, 2869221-2869222 |
| 172 | CDKN1C | 11 | 0.12618296529968 | 831 | 951 | 2905234-2905364, 2905900-2906586, 2906632-2906637, 2906694-2906700 |
| 173 | HBD | 11 | 0.9954954954955 | 2 | 444 | 5255638-5255639 |
| 174 | SMPD1 | 11 | 0.94567510548523 | 103 | 1896 | 6411834-6411837, 6411906-6411907, 6411928-6411929, 6411933-6411939, 6411945-6411957, 6411961-6411967, 6412722-6412729, 6412738, 6412749-6412761, 6412768, 6412771-6412775, 6412854, 6412894, 6412958, 6413000, 6413094-6413097, 6413150-6413152, 6413214-6413217, 6413371, 6415814-6415837 |
| 175 | TPP1 | 11 | 0.99940898345154 | 1 | 1692 | 6638339 |
| 176 | SBF2 | 11 | 0.98576576576577 | 79 | 5550 | 9838412, 9838437, 9838440-9838445, 9838450, 9838495-9838507, 9983573, 10052670, 10315562-10315616 |
| 177 | PTH | 11 | 0.99425287356322 | 2 | 348 | 13514013-13514014 |
| 178 | KCNJ11 | 11 | 0.97953964194373 | 24 | 1173 | 17408524-17408527, 17408694, 17408799-17408817 |
| 179 | ABCC8 | 11 | 0.98546144121365 | 69 | 4746 | 17419268, 17419275-17419277, 17424287-17424289, 17449869-17449870, 17498176-17498178, 17498233-17498236, 17498248-17498253, 17498264-17498309, 17498323 |
| 180 | USH1C | 11 | 0.90703703703704 | 251 | 2700 | 17531112-17531362 |
| 181 | LDHA | 11 | 0.996996996997 | 3 | 999 | 18422433-18422435 |
| 182 | SLC6A5 | 11 | 0.94653299916458 | 128 | 2394 | 20622738-20622741, 20622748, 20622761, 20622764, 20622789-20622821, 20622862-20622903, 20622926, 20622959-20622963, 20622966-20622976, 20622979-20622995, 20623004, 20623007, 20623023, 20623042, 20623144-20623147, 20623156-20623158, 20623161 |
| 183 | ANO5 | 11 | 0.95915390226112 | 112 | 2742 | 22276943-22276974, 22276990-22277068, 22284579 |
| 184 | FANCF | 11 | 0.92888888888889 | 80 | 1125 | 22646783-22646809, 22646818-22646843, 22646936, 22647182, 22647185, 22647232, 22647236-22647242, 22647246, 22647251-22647265 |
| 185 | PAX6 | 11 | 0.98581560283688 | 18 | 1269 | 31824304-31824313, 31824335, 31824365-31824370, 31824375 |
| 186 | WT1 | 11 | 0.68725868725869 | 486 | 1554 | 32449515-32449525, 32449535-32449550, 32456322, 32456334-32456336, 32456358-32456368, 32456371-32456380, 32456382, 32456424-32456426, 32456436-32456439, 32456451-32456465, 32456481-32456891 |
| 187 | PDHX | 11 | 0.98472775564409 | 23 | 1506 | 34938203, 34938209-34938226, 34938265, 34938278, 34991772, 34999725 |
| 188 | RAG1 | 11 | 0.99840357598978 | 5 | 3132 | 36594924-36594925, 36595042-36595043, 36595047 |
| 189 | EXT2 | 11 | 0.99629114510895 | 8 | 2157 | 44228384-44228391 |
| 190 | ALX4 | 11 | 0.8131067961165 | 231 | 1236 | 44286566, 44286607, 44286679, 44297101-44297104, 44297107-44297111, 44331147-44331210, 44331220-44331223, 44331228, 44331234, 44331240, 44331245, 44331250-44331254, 44331256-44331266, 44331275, 44331279-44331290, 44331300, 44331329-44331341, 44331373-44331413, 44331419-44331420, 44331547-44331579, 44331585-44331612 |
| 191 | SLC35C1 | 11 | 0.98011363636364 | 21 | 1056 | 45827427, 45827431-45827432, 45827439, 45827452-45827453, 45827467, 45827809-45827815, 45827854-45827860 |
| 192 | PEX16 | 11 | 0.97886647454371 | 22 | 1041 | 45931704, 45939253, 45939256, 45939260-45939271, 45939278, 45939282, 45939291-45939292, 45939296-45939298 |
| 193 | F2 | 11 | 0.9983948635634 | 3 | 1869 | 46747554, 46747564-46747565 |
| 194 | DDB2 | 11 | 0.9797507788162 | 26 | 1284 | 47236765-47236779, 47236786, 47236788-47236789, 47236798, 47236802-47236808 |
| 195 | MYBPC3 | 11 | 0.99790849673203 | 8 | 3825 | 47356739-47356741, 47365044, 47365163, 47371325, 47371358, 47371440 |
| 196 | SLC39A13 | 11 | 0.97222222222222 | 31 | 1116 | 47431733, 47431736, 47431767, 47431770, 47431774, 47431777-47431781, 47433914-47433920, 47433923-47433926, 47433938, 47435030, 47435046-47435048, 47436376, 47436399-47436402 |
| 197 | RAPSN | 11 | 0.95399515738499 | 57 | 1239 | 47460283-47460285, 47460306, 47460320, 47460398, 47460406-47460414, 47460422-47460430, 47463214-47463215, 47463222, 47463229-47463230, 47463239, 47463446-47463447, 47463450-47463451, 47463455, 47463465-47463473, 47464208-47464211, 47464229, 47464232-47464233, 47464249, 47464276, 47464285-47464286, 47464291, 47469486 |
| 198 | SERPING1 | 11 | 0.95941450432468 | 61 | 1503 | 57365744-57365794, 57381927-57381933, 57381980, 57381984, 57381989 |
| 199 | TMEM216 | 11 | 0.99621212121212 | 1 | 264 | 61165296 |
| 200 | SDHAF2 | 11 | 0.97604790419162 | 12 | 501 | 61213454-61213465 |
| 201 | BEST1 | 11 | 0.94084186575654 | 104 | 1758 | 61719290-61719299, 61723218-61723219, 61723223-61723225, 61723229-61723237, 61723245, 61723248-61723256, 61723276-61723319, 61723385-61723410 |
| 202 | ROM1 | 11 | 0.9375 | 66 | 1056 | 62380767-62380804, 62380816-62380839, 62381060-62381062, 62381912 |
| 203 | SLC22A12 | 11 | 0.94404332129964 | 93 | 1662 | 64359171, 64367171, 64367190, 64367193-64367197, 64367239-64367312, 64368247-64368257 |
| 204 | PYGM | 11 | 0.98813760379597 | 30 | 2529 | 64521014, 64521042, 64521045-64521046, 64521053-64521055, 64521129-64521131, 64521134, 64521142, 64521145, 64521418, 64521421-64521426, 64521429-64521432, 64521435-64521436, 64527131-64527132, 64527144, 64527154 |
| 205 | MEN1 | 11 | 0.96915584415584 | 57 | 1848 | 64571943, 64572018, 64572162, 64572172, 64573226-64573232, 64573739-64573744, 64575029-64575031, 64577361, 64577516-64577517, 64577524-64577528, 64577530, 64577533, 64577541-64577549, 64577554-64577561, 64577572-64577581 |
| 206 | RNASEH2C | 11 | 0.78383838383838 | 107 | 495 | 65487523-65487524, 65487530-65487531, 65487830-65487879, 65488060-65488086, 65488156-65488163, 65488174-65488179, 65488183-65488184, 65488189-65488190, 65488204-65488210, 65488229 |
| 207 | EFEMP2 | 11 | 0.99924924924925 | 1 | 1332 | 65639813 |
| 208 | CST6 | 11 | 0.62 | 171 | 450 | 65779516-65779556, 65779578-65779587, 65779601-65779647, 65779657-65779688, 65779738-65779755, 65780372-65780382, 65780405-65780415, 65780418 |
| 209 | BBS1 | 11 | 0.98597081930415 | 25 | 1782 | 66298375-66298383, 66298394-66298402, 66299428, 66299431-66299436 |
| 210 | SPTBN2 | 11 | 0.96305590408476 | 265 | 7173 | 66453428-66453430, 66453471-66453477, 66455018-66455066, 66455339-66455369, 66455382, 66455385, 66456262, 66457619-66457621, 66457626, 66457649, 66457652, 66457664, 66457730, 66458846, 66458861-66458864, 66458967, 66458976, 66460449, 66460734-66460735, 66460759-66460762, 66460784, 66460789-66460792, 66460824-66460829, 66460834-66460836, 66460839-66460840, 66468023-66468031, 66468736, 66468740-66468753, 66472069-66472073, 66472079, 66472084, 66472255, 66472259-66472263, 66472287-66472292, 66472321, 66472382-66472385, 66472407-66472422, 66472506-66472513, 66472516, 66472521-66472523, 66472615-66472618, 66472648, 66472651, 66472656-66472669, 66472856-66472857, 66472867-66472868, 66472871, 66472896-66472897, 66472915-66472921, 66472924, 66473235, 66473244, 66475231, 66475664, 66475667, 66475670-66475675, 66475692-66475693, 66483339-66483348 |
| 211 | PC | 11 | 0.9618320610687 | 135 | 3537 | 66617300, 66618377-66618381, 66618390-66618393, 66620022, 66620033-66620045, 66620049-66620057, 66620063, 66620077-66620085, 66620102-66620131, 66633658-66633713, 66633716-66633718, 66633756, 66633767, 66639214 |
| 212 | CABP4 | 11 | 0.993961352657 | 5 | 828 | 67223688, 67225879-67225882 |
| 213 | AIP | 11 | 0.932527693857 | 67 | 993 | 67256828, 67257534-67257565, 67257569, 67257823-67257830, 67257837-67257854, 67258361, 67258383-67258386, 67258391, 67258394 |
| 214 | NDUFV1 | 11 | 0.99426523297491 | 8 | 1395 | 67374489-67374495, 67379913 |
| 215 | NDUFS8 | 11 | 0.94470774091627 | 35 | 633 | 67799793, 67799800-67799801, 67800443-67800467, 67800679-67800682, 67803947, 67803952-67803953 |
| 216 | TCIRG1 | 11 | 0.93501805054152 | 162 | 2493 | 67810136-67810137, 67810154-67810157, 67810167, 67810170, 67810220, 67810257-67810260, 67810274, 67810278, 67810301-67810303, 67810899-67810910, 67810932-67810964, 67811038-67811042, 67811316-67811323, 67811328, 67811335-67811340, 67811342, 67811345-67811351, 67811370-67811374, 67811652-67811655, 67811732-67811738, 67812466, 67815271, 67816562-67816602, 67817155, 67817166-67817172, 67817179, 67817182, 67817185, 67817188 |
| 217 | LRP5 | 11 | 0.96699669966997 | 160 | 4848 | 68080183-68080273, 68115701, 68131219-68131221, 68131253, 68133057-68133074, 68133166-68133170, 68153799-68153804, 68174063, 68177400-68177402, 68201246, 68201252, 68206097, 68207296, 68207364-68207370, 68207381-68207383, 68216359, 68216450-68216456, 68216499-68216501, 68216511-68216516 |
| 218 | CPT1A | 11 | 0.98708010335917 | 30 | 2322 | 68527710-68527716, 68527760, 68527763, 68552325, 68552377, 68560794-68560798, 68560809-68560822 |
| 219 | IGHMBP2 | 11 | 0.98993963782696 | 30 | 2982 | 68703968, 68704039-68704044, 68704360, 68704495, 68704506-68704514, 68704520-68704530, 68707020 |
| 220 | DHCR7 | 11 | 0.9250700280112 | 107 | 1428 | 71146438-71146479, 71146552-71146554, 71146574-71146584, 71146594-71146598, 71146667-71146680, 71146691, 71146738, 71146744-71146745, 71146818-71146844, 71148926 |
| 221 | LRTOMT | 11 | 0.98173515981735 | 16 | 876 | 71819741-71819756 |
| 222 | MYO7A | 11 | 0.98841756919374 | 77 | 6648 | 76858854, 76858868-76858871, 76890841-76890864, 76890878-76890886, 76890910, 76892431-76892438, 76901153, 76903130, 76912532-76912538, 76914122-76914123, 76914128-76914129, 76914183-76914188, 76915271-76915274, 76922303-76922304, 76922311-76922313, 76922317, 76922321 |
| 223 | ALG8 | 11 | 0.99873497786211 | 2 | 1581 | 77817939-77817940 |
| 224 | TMEM126A | 11 | 0.99319727891156 | 4 | 588 | 85365203-85365206 |
| 225 | FZD4 | 11 | 0.93990086741016 | 97 | 1614 | 86665843-86665845, 86665853, 86665862-86665868, 86665897-86665904, 86665929, 86666039-86666041, 86666045-86666055, 86666065-86666127 |
| 226 | TYR | 11 | 0.99937106918239 | 1 | 1590 | 89028411 |
| 227 | MTMR2 | 11 | 0.98447204968944 | 30 | 1932 | 95657066, 95657069, 95657079-95657080, 95657089-95657113, 95657118 |
| 228 | TRPC6 | 11 | 0.99105865522175 | 25 | 2796 | 101359750, 101454159, 101454163-101454175, 101454182-101454190, 101454201 |
| 229 | DYNC2H1 | 11 | 0.97319428350715 | 347 | 12945 | 102984329, 102984372, 102988548, 102991486-102991493, 102991497-102991503, 102991515-102991519, 102991707-102991712, 103014076-103014083, 103014094-103014095, 103018515-103018519, 103018523, 103018527-103018533, 103024070-103024076, 103025241, 103025258-103025260, 103025439-103025447, 103027321, 103027324, 103029439-103029441, 103029454, 103029469-103029470, 103029504-103029513, 103029523-103029528, 103029538, 103043814-103043844, 103043853-103043858, 103043906-103043919, 103043930, 103043933-103043939, 103043943-103043946, 103043950-103043951, 103043974-103043982, 103043991-103043992, 103044008-103044010, 103044019, 103052486-103052503, 103052514-103052519, 103052525, 103052536, 103052547, 103052558, 103055706-103055712, 103059226-103059227, 103059237-103059258, 103062267-103062285, 103062314-103062319, 103062327, 103062335-103062337, 103062342-103062346, 103062973-103062974, 103062977-103062980, 103070073, 103070083, 103070780, 103070783, 103082534-103082541, 103082546-103082551, 103093705, 103093717-103093720, 103106506-103106531, 103107159, 103107204-103107206, 103107263-103107265, 103126237, 103130617-103130623, 103152948, 103157043-103157046, 103182656, 103191821 |
| 230 | ACAT1 | 11 | 0.96417445482866 | 46 | 1284 | 107992343-107992386, 108012405, 108014711 |
| 231 | ATM | 11 | 0.98538872532984 | 134 | 9171 | 108098355, 108098365-108098368, 108098375, 108098386, 108098389-108098390, 108098542-108098547, 108098556-108098560, 108114758, 108122683, 108124566-108124570, 108126942-108126947, 108126973-108127000, 108127021-108127028, 108127039-108127040, 108150281-108150282, 108160400, 108164138-108164145, 108172395-108172401, 108188106-108188112, 108188211, 108196061-108196063, 108196071, 108196180-108196202, 108202203-108202206, 108202259, 108202632, 108202640, 108202644, 108204666-108204667 |
| 232 | RDX | 11 | 0.99486301369863 | 9 | 1752 | 110108303-110108308, 110108311, 110108318-110108319 |
| 233 | ALG9 | 11 | 0.95315904139434 | 86 | 1836 | 111742089-111742096, 111742102-111742123, 111742129-111742145, 111742147-111742185 |
| 234 | DLAT | 11 | 0.98559670781893 | 28 | 1944 | 111896321, 111896324, 111896400, 111896404-111896405, 111896408-111896409, 111899589, 111899598-111899600, 111899610-111899611, 111899651-111899654, 111899660-111899663, 111909982, 111910016-111910020, 111910044 |
| 235 | PTS | 11 | 0.9703196347032 | 13 | 438 | 112097167-112097179 |
| 236 | DRD2 | 11 | 0.99174174174174 | 11 | 1332 | 113281449-113281457, 113283574-113283575 |
| 237 | APOA1 | 11 | 0.93034825870647 | 56 | 804 | 116706606, 116706609-116706614, 116706627, 116706641-116706644, 116706721-116706725, 116706728, 116706747, 116706752-116706757, 116706771-116706785, 116706788, 116706795-116706799, 116706802, 116706805-116706806, 116706865-116706871 |
| 238 | FXYD2 | 11 | 0.99086757990868 | 4 | 438 | 117693261-117693262, 117693270-117693271 |
| 239 | HMBS | 11 | 0.99815837937385 | 2 | 1086 | 118962158, 118962161 |
| 240 | DPAGT1 | 11 | 0.99918500407498 | 1 | 1227 | 118972205 |
| 241 | TECTA | 11 | 0.99597834493426 | 26 | 6465 | 121028655-121028668, 121028700, 121028704-121028711, 121028722, 121028727-121028728 |
| 242 | ROBO3 | 11 | 0.9353520788272 | 269 | 4161 | 124735481, 124738745-124738783, 124738792-124738799, 124738871-124738875, 124738878, 124738883-124738901, 124738927-124738930, 124738932, 124738935-124738944, 124738950, 124738964, 124739423-124739425, 124739431, 124745909-124745928, 124745935-124745945, 124745959-124745960, 124745964-124745992, 124746007, 124746182, 124746186-124746187, 124746190-124746192, 124746198-124746207, 124746210, 124746213-124746219, 124746238-124746279, 124746293-124746336, 124749198, 124750435 |
| 243 | ACAD8 | 11 | 0.9911858974359 | 11 | 1248 | 134123528-134123532, 134123559, 134132478-134132482 |
| 244 | WNK1 | 12 | 0.99310344827586 | 9 | 1305 | 977169, 977211-977214, 977219-977222 |
| 245 | WNK1 | 12 | 0.95216114141838 | 342 | 7149 | 862732, 862738, 862741, 862784-862788, 862790-862797, 862800-862805, 862810-862815, 862821, 862825-862835, 862842-862868, 862876-862944, 862950-862975, 862989-862990, 862994-862996, 863064-863115, 863128-863197, 863265, 863273-863275, 863354-863360, 970293-970310, 989144, 994357-994362, 994799-994803, 994811-994814, 995185-995188, 1017088, 1017091-1017092, 1017823 |
| 246 | CACNA2D4 | 12 | 0.97070884592853 | 100 | 3414 | 1902881-1902886, 1902892-1902894, 1902905-1902913, 1906625-1906632, 1906647-1906682, 1920883-1920885, 1949932-1949933, 1949949, 1953600-1953607, 1953631, 2027484-2027490, 2027528-2027543 |
| 247 | CACNA1C | 12 | 0.97241274196007 | 181 | 6561 | 2224477-2224478, 2224481-2224485, 2224510, 2676756, 2788715, 2788718-2788738, 2791748-2791755, 2791764-2791766, 2791776-2791783, 2791786, 2794934-2794940, 2797647, 2797718, 2797804, 2797830-2797853, 2800184-2800189, 2800200-2800205, 2800209-2800211, 2800266-2800307, 2800320-2800352, 2800360-2800365 |
| 248 | FGF23 | 12 | 0.98809523809524 | 9 | 756 | 4479647-4479650, 4479657-4479661 |
| 249 | KCNA1 | 12 | 0.97311827956989 | 40 | 1488 | 5020585-5020602, 5020640-5020642, 5020645, 5020687, 5020711-5020714, 5020724-5020729, 5020785, 5020788, 5020855-5020857, 5021033-5021034 |
| 250 | VWF | 12 | 0.95936981757877 | 343 | 8442 | 6078424-6078425, 6103092, 6103106-6103114, 6122699-6122702, 6122722-6122728, 6125702-6125741, 6127532-6127538, 6127655-6127662, 6127823-6127871, 6127887-6127894, 6127919, 6127943-6127947, 6128064-6128087, 6128167-6128173, 6128339-6128357, 6128449-6128451, 6128554-6128560, 6128630-6128636, 6128784-6128790, 6131926-6131932, 6132003-6132033, 6132805-6132811, 6140740, 6166028-6166070, 6166084-6166094, 6166103-6166117, 6166135-6166136, 6166201-6166205, 6166211-6166215, 6174357 |
| 251 | TNFRSF1A | 12 | 0.85964912280702 | 192 | 1368 | 6438478-6438523, 6438571, 6438576-6438580, 6438593-6438681, 6438712, 6438741, 6438755-6438788, 6438969-6438970, 6438972-6438973, 6438976-6438977, 6438984-6438988, 6439040-6439042, 6443257 |
| 252 | SCNN1A | 12 | 0.95884773662551 | 90 | 2187 | 6457043, 6457096-6457105, 6464578, 6464581-6464582, 6471292, 6472609-6472622, 6472666-6472674, 6472681-6472697, 6472718, 6472721, 6472738-6472739, 6472742, 6472747-6472769, 6472850-6472856 |
| 253 | TPI1 | 12 | 0.84666666666667 | 115 | 750 | 6976731-6976845 |
| 254 | ATN1 | 12 | 0.93758746151693 | 223 | 3573 | 7045475, 7045482, 7045600-7045612, 7045893-7045944, 7045955, 7045959-7045972, 7045983-7045992, 7046320-7046324, 7046332-7046335, 7046355-7046380, 7046406, 7046448, 7046459, 7046467-7046468, 7046483-7046487, 7046494, 7046501-7046502, 7046510, 7046529-7046536, 7046592-7046597, 7046702-7046705, 7047048-7047054, 7047070-7047072, 7047123-7047165, 7048145-7048153, 7050624, 7050633 |
| 255 | PEX5 | 12 | 0.99947257383966 | 1 | 1896 | 7354406 |
| 256 | AICDA | 12 | 0.99664991624791 | 2 | 597 | 8757422-8757423 |
| 257 | CDKN1B | 12 | 0.98659966499162 | 8 | 597 | 12870827-12870834 |
| 258 | GYS2 | 12 | 0.96401515151515 | 76 | 2112 | 21712025-21712073, 21715906, 21716180-21716195, 21716242-21716251 |
| 259 | ABCC9 | 12 | 0.99161290322581 | 39 | 4650 | 21971087, 21971091-21971099, 21971112, 21971125-21971128, 21971136-21971137, 21971170-21971172, 21991046, 21998564-21998565, 22025563-22025567, 22061060-22061062, 22063233-22063235, 22063246, 22063800-22063802, 22063826 |
| 260 | DNM1L | 12 | 0.97964721845319 | 45 | 2211 | 32832354, 32832393-32832399, 32883973, 32890823-32890858 |
| 261 | PKP2 | 12 | 0.94431185361973 | 140 | 2514 | 33021923, 33049443-33049470, 33049476-33049507, 33049524-33049526, 33049532-33049561, 33049565-33049576, 33049600-33049607, 33049640-33049665 |
| 262 | KIF21A | 12 | 0.9849578820698 | 75 | 4986 | 39709038, 39713717-39713720, 39724679-39724680, 39726757-39726758, 39733979-39733981, 39756939-39756949, 39756954, 39756957-39756960, 39760303, 39761685-39761707, 39761764, 39836730, 39836752-39836772 |
| 263 | LRRK2 | 12 | 0.97217827004219 | 211 | 7584 | 40618941-40618947, 40619052, 40619055, 40626100-40626101, 40634355, 40646746, 40646771, 40646774-40646775, 40646782-40646803, 40646811-40646812, 40687347-40687375, 40687385-40687395, 40713868, 40713873, 40713876-40713878, 40713889, 40715850, 40734197-40734206, 40734212-40734213, 40734217-40734224, 40745511-40745515, 40753062, 40760873, 40760879, 40761446-40761465, 40761482, 40761485, 40761494-40761567 |
| 264 | IRAK4 | 12 | 0.98481561822126 | 21 | 1383 | 44167784, 44167788-44167790, 44167794-44167800, 44167814-44167818, 44171446, 44171449, 44180207, 44180258-44180259 |
| 265 | VDR | 12 | 0.98909657320872 | 14 | 1284 | 48251345, 48251355-48251356, 48251360-48251361, 48251366-48251371, 48251377-48251378, 48258954 |
| 266 | COL2A1 | 12 | 0.98678315412186 | 59 | 4464 | 48369788, 48370905, 48371142, 48372422-48372431, 48372443-48372449, 48372452, 48377876, 48377879-48377880, 48379529, 48379538, 48379563, 48383550, 48383555, 48393876-48393880, 48393902-48393903, 48398060-48398061, 48398063-48398071, 48398076, 48398080, 48398095-48398104 |
| 267 | MLL2 | 12 | 0.95040327434694 | 824 | 16614 | 49420601-49420605, 49420686, 49420773-49420775, 49420785-49420792, 49420853-49420855, 49421924, 49422939, 49423237-49423239, 49423244, 49424153, 49424156, 49424177-49424178, 49424453-49424457, 49425044-49425060, 49425196-49425201, 49425642-49425647, 49425799-49425801, 49425806, 49426015, 49426127-49426137, 49426178, 49426216, 49426487-49426521, 49426570, 49426573-49426576, 49426583, 49426644-49426659, 49426663-49426667, 49426728-49426749, 49426753, 49426771, 49426785, 49426795, 49426806, 49426866, 49426870, 49426896-49426938, 49426947-49426969, 49427010-49427012, 49427025, 49427028, 49427031-49427082, 49427097-49427098, 49427103-49427105, 49427117-49427131, 49427144-49427168, 49427184-49427185, 49427188, 49427211-49427216, 49427225-49427227, 49427239-49427335, 49427532, 49427584, 49427598-49427599, 49427610-49427617, 49427627, 49427633-49427644, 49427652, 49427670-49427699, 49427866-49427870, 49427991, 49427994, 49430980-49430988, 49431287-49431323, 49431337, 49431341-49431342, 49431514-49431531, 49431549-49431566, 49431851, 49431869, 49432532-49432537, 49432558-49432562, 49433289, 49433316-49433317, 49433379-49433382, 49433573-49433577, 49433982-49433983, 49433997, 49434003-49434004, 49434014-49434018, 49434021, 49434063-49434099, 49434109-49434120, 49434376, 49434558-49434571, 49434847-49434859, 49434933-49434947, 49435019-49435031, 49435089-49435120, 49435148, 49435199-49435202, 49435205, 49435315, 49435440, 49435966, 49436083, 49436951, 49438029-49438030, 49438632-49438635, 49442508-49442528, 49443488, 49445107, 49446171-49446177, 49446776-49446779, 49446854-49446855 |
| 268 | DHH | 12 | 0.77581863979849 | 267 | 1191 | 49483643-49483646, 49483650-49483651, 49483670, 49483673-49483689, 49483698-49483732, 49483737, 49483739-49483763, 49483771-49483793, 49483797, 49483800, 49483803-49483821, 49483828-49483830, 49483847-49483890, 49483899-49483900, 49483913-49483918, 49483921, 49483947-49483954, 49483967-49483996, 49484142-49484143, 49484163-49484167, 49484179, 49484195-49484197, 49484964, 49488135, 49488182, 49488190-49488191, 49488198-49488200, 49488214-49488231, 49488246-49488252 |
| 269 | TUBA1A | 12 | 0.96491228070175 | 16 | 456 | 49522235-49522241, 49522308-49522314, 49522578, 49522605 |
| 270 | AQP2 | 12 | 0.99754901960784 | 2 | 816 | 50349274, 50349277 |
| 271 | ACVRL1 | 12 | 0.95039682539683 | 75 | 1512 | 52307069, 52307072, 52307362, 52307373-52307383, 52307388-52307390, 52307393-52307394, 52307408-52307410, 52307446, 52308277-52308289, 52308341-52308369, 52309093, 52309135, 52312892-52312899 |
| 272 | KRT81 | 12 | 0.91106719367589 | 135 | 1518 | 52680194-52680198, 52680216, 52680227-52680231, 52680235, 52680250-52680252, 52680263-52680269, 52680273, 52684008-52684012, 52684027, 52684034-52684042, 52684048-52684053, 52684056-52684058, 52684947, 52685061-52685099, 52685117, 52685172-52685218 |
| 273 | KRT86 | 12 | 0.9192334017796 | 118 | 1461 | 52695758, 52695823-52695857, 52695891, 52696003, 52696893-52696930, 52699880-52699886, 52700034, 52702203-52702206, 52702340-52702369 |
| 274 | KRT83 | 12 | 0.92780026990553 | 107 | 1482 | 52709696-52709725, 52709824-52709835, 52713118, 52713125-52713127, 52714918-52714944, 52715009-52715042 |
| 275 | KRT6B | 12 | 0.94277286135693 | 97 | 1695 | 52840992, 52841055, 52842708-52842709, 52843632-52843637, 52844345-52844347, 52844355-52844363, 52845432-52845438, 52845571-52845601, 52845768-52845804 |
| 276 | KRT6C | 12 | 0.94513274336283 | 93 | 1695 | 52862860, 52863564, 52864945-52864951, 52865295-52865300, 52866013-52866014, 52866018, 52867091-52867108, 52867230-52867260, 52867375, 52867457-52867481 |
| 277 | KRT6A | 12 | 0.92684365781711 | 124 | 1695 | 52881510-52881539, 52881716-52881727, 52882209-52882225, 52885470-52885474, 52885478, 52885482-52885499, 52885502-52885504, 52886720, 52886908-52886944 |
| 278 | KRT5 | 12 | 0.87817258883249 | 216 | 1773 | 52908726-52908784, 52908797-52908824, 52908835-52908910, 52908922-52908939, 52908950-52908973, 52910531, 52910996, 52912880-52912887, 52912890 |
| 279 | KRT2 | 12 | 0.9890625 | 21 | 1920 | 53040621-53040629, 53040635, 53040639-53040647, 53045787, 53045793 |
| 280 | KRT1 | 12 | 0.96692506459948 | 64 | 1935 | 53069117-53069144, 53069170-53069171, 53069223-53069243, 53070145-53070154, 53070174-53070176 |
| 281 | KRT4 | 12 | 0.99887955182073 | 2 | 1785 | 53201523, 53207595 |
| 282 | AAAS | 12 | 0.99878123095673 | 2 | 1641 | 53701402, 53702580 |
| 283 | ITGA7 | 12 | 0.97956800934034 | 70 | 3426 | 56078870, 56078872, 56081801, 56086693-56086698, 56086703-56086709, 56086722, 56086725, 56086733, 56086740, 56086982-56086991, 56088577-56088579, 56089327, 56090743, 56092540-56092543, 56092633-56092643, 56094094, 56096904-56096917, 56096926, 56096942, 56096956, 56101267, 56101448 |
| 284 | RDH5 | 12 | 0.96133751306165 | 37 | 957 | 56115176, 56115582, 56115585-56115586, 56115592-56115616, 56115622-56115628, 56117778 |
| 285 | SUOX | 12 | 0.98717948717949 | 21 | 1638 | 56396048-56396051, 56398164-56398180 |
| 286 | MYO1A | 12 | 0.99010217113665 | 31 | 3132 | 57430823, 57431776-57431785, 57431792-57431811 |
| 287 | KIF5A | 12 | 0.98354307841239 | 51 | 3099 | 57944070, 57944087-57944090, 57944107-57944114, 57944132-57944165, 57974888, 57976950-57976952 |
| 288 | CDK4 | 12 | 0.99890350877193 | 1 | 912 | 58143027 |
| 289 | CYP27B1 | 12 | 0.99541584806811 | 7 | 1527 | 58159815-58159821 |
| 290 | TSFM | 12 | 0.97443762781186 | 25 | 978 | 58176595-58176609, 58176620-58176629 |
| 291 | GNS | 12 | 0.98673899939723 | 22 | 1659 | 65141674, 65141677-65141686, 65152978-65152980, 65152987, 65152993, 65152996, 65153000, 65153020, 65153050-65153052 |
| 292 | LEMD3 | 12 | 0.90497076023392 | 260 | 2736 | 65563381-65563395, 65563401-65563410, 65563545-65563546, 65563552-65563555, 65563593-65563637, 65563644-65563658, 65563710-65563711, 65563731-65563785, 65563818-65563848, 65563868-65563873, 65563876, 65563881-65563883, 65563887-65563894, 65563897-65563902, 65563910, 65563916-65563917, 65563926-65563940, 65563961-65563963, 65564165-65564192, 65564392-65564394, 65609788, 65609791-65609792, 65612392, 65634798 |
| 293 | BBS10 | 12 | 0.99723756906077 | 6 | 2172 | 76741979, 76742054-76742058 |
| 294 | CEP290 | 12 | 0.96922043010753 | 229 | 7440 | 88443129, 88443132, 88443153, 88443179-88443191, 88454610-88454614, 88454617, 88454712, 88454722-88454723, 88454728, 88454731, 88471556-88471562, 88472963-88472971, 88472986-88473006, 88480214-88480263, 88505119, 88505473-88505492, 88505545, 88505551-88505553, 88505633-88505635, 88512444, 88513992, 88513996-88513997, 88519052-88519057, 88519062-88519069, 88520104-88520123, 88522723-88522731, 88522765-88522792, 88522806, 88532927-88532931, 88535069-88535074 |
| 295 | HAL | 12 | 0.99594731509625 | 8 | 1974 | 96380865-96380867, 96380875-96380878, 96389604 |
| 296 | TMPO | 12 | 0.8863309352518 | 237 | 2085 | 98909688-98909924 |
| 297 | SLC25A3 | 12 | 0.99081726354454 | 10 | 1089 | 98987864-98987866, 98987870-98987875, 98987879 |
| 298 | SLC17A8 | 12 | 0.9774011299435 | 40 | 1770 | 100774560-100774563, 100774574-100774578, 100774584, 100774588, 100774592-100774595, 100796441, 100797875-100797898 |
| 299 | SYCP3 | 12 | 0.9915611814346 | 6 | 711 | 102127423-102127425, 102127428, 102127431-102127432 |
| 300 | GNPTAB | 12 | 0.99973481835057 | 1 | 3771 | 102224385 |
| 301 | IGF1 | 12 | 0.99489795918367 | 3 | 588 | 102813438-102813440 |
| 302 | PAH | 12 | 0.99852832965416 | 2 | 1359 | 103288570, 103288603 |
| 303 | UNG | 12 | 0.91295116772824 | 82 | 942 | 109535485-109535512, 109535526-109535533, 109535540-109535578, 109535595-109535600, 109535608 |
| 304 | MMAB | 12 | 0.99203187250996 | 6 | 753 | 109998852, 110011229-110011230, 110011244-110011246 |
| 305 | MVK | 12 | 0.99916036943745 | 1 | 1191 | 110019291 |
| 306 | TRPV4 | 12 | 0.99350152905199 | 17 | 2616 | 110221455-110221466, 110232291, 110240912-110240914, 110246172 |
| 307 | ATP2A2 | 12 | 0.97635027165229 | 74 | 3129 | 110719595-110719614, 110719637-110719642, 110719645, 110719650-110719660, 110719665, 110719669-110719677, 110719682-110719690, 110719708-110719712, 110781066, 110781112-110781115, 110782697-110782703 |
| 308 | ATXN2 | 12 | 0.81177067478437 | 742 | 3942 | 111890620-111890621, 111895046-111895048, 111895055, 111895058-111895077, 111908367-111908368, 111908371, 111908486, 111908528-111908532, 111951285-111951294, 111957774, 112036588-112037240, 112037253-112037257, 112037263, 112037267-112037286, 112037302-112037318 |
| 309 | PTPN11 | 12 | 0.99214365881033 | 14 | 1782 | 112856916-112856929 |
| 310 | SDS | 12 | 0.98885511651469 | 11 | 987 | 113831705-113831713, 113835131, 113835134 |
| 311 | TBX5 | 12 | 0.97944765574823 | 32 | 1557 | 114793663-114793679, 114793809-114793815, 114804117-114804118, 114841603-114841607, 114841701 |
| 312 | TBX3 | 12 | 0.85439068100358 | 325 | 2232 | 115109671-115109678, 115109686, 115109689, 115109843-115109897, 115109910-115109921, 115110034-115110036, 115110041, 115110044, 115111970-115111981, 115112039-115112089, 115112095-115112103, 115112126-115112132, 115112143-115112151, 115112211-115112217, 115112226-115112277, 115112297-115112298, 115112314, 115112322-115112359, 115112389, 115112447-115112448, 115112457, 115112461, 115112464, 115112479-115112487, 115112522, 115112535-115112570, 115120873, 115120895-115120896 |
| 313 | ACADS | 12 | 0.94430992736077 | 69 | 1239 | 121163696-121163729, 121174899, 121176083, 121176665-121176670, 121176955-121176981 |
| 314 | HNF1A | 12 | 0.94462025316456 | 105 | 1896 | 121416589-121416594, 121416600, 121416603-121416610, 121416681-121416682, 121416688, 121416693-121416696, 121416700-121416701, 121416768-121416771, 121434351-121434378, 121437191-121437192, 121437286-121437287, 121437304-121437307, 121437336-121437365, 121437382, 121437388-121437389, 121437392-121437393, 121437405, 121437417-121437421 |
| 315 | ATP6V0A2 | 12 | 0.99144301828082 | 22 | 2571 | 124197113, 124197193-124197201, 124197205, 124197212-124197217, 124203188-124203190, 124220103, 124241401 |
| 316 | PUS1 | 12 | 0.83411214953271 | 213 | 1284 | 132414268-132414341, 132414452-132414542, 132425969-132425982, 132425998-132426005, 132426309-132426334 |
| 317 | SGCG | 13 | 0.99086757990868 | 8 | 876 | 23808803-23808809, 23824783 |
| 318 | SACS | 13 | 0.98879184861718 | 154 | 13740 | 23906607-23906609, 23949258-23949408 |
| 319 | CENPJ | 13 | 0.99950211600697 | 2 | 4017 | 25480461, 25480571 |
| 320 | PDX1 | 13 | 0.6150234741784 | 328 | 852 | 28494307, 28494345, 28494349, 28494352, 28494391, 28494396-28494437, 28494440, 28494443-28494444, 28494447-28494448, 28494454-28494455, 28494458-28494469, 28494472, 28494475-28494476, 28494491-28494519, 28494527-28494546, 28494562-28494600, 28498393-28498473, 28498508-28498513, 28498516, 28498595-28498603, 28498617, 28498625-28498629, 28498634-28498638, 28498642-28498648, 28498662-28498672, 28498682-28498689, 28498697-28498699, 28498710-28498717, 28498727-28498732, 28498763-28498765, 28498780-28498784, 28498789, 28498793-28498803 |
| 321 | B3GALTL | 13 | 0.95323981295925 | 70 | 1497 | 31774222-31774291 |
| 322 | BRCA2 | 13 | 0.99990250560593 | 1 | 10257 | 32971139 |
| 323 | SPG20 | 13 | 0.99650174912544 | 7 | 2001 | 36888384-36888387, 36888398-36888399, 36909936 |
| 324 | FREM2 | 13 | 0.97749737118822 | 214 | 9510 | 39261568-39261576, 39261581-39261585, 39261600, 39261612-39261613, 39261616, 39261625-39261630, 39261636-39261637, 39261642-39261645, 39261651-39261659, 39261667-39261672, 39261683-39261684, 39261787-39261802, 39261817-39261886, 39261904-39261917, 39261927-39261967, 39262032, 39262046, 39262057, 39262085-39262086, 39433647, 39433718-39433720, 39448661-39448670, 39450254, 39450261, 39450266-39450268, 39454873, 39454876 |
| 325 | SLC25A15 | 13 | 0.99779249448124 | 2 | 906 | 41382607, 41382610 |
| 326 | TNFSF11 | 13 | 0.90775681341719 | 88 | 954 | 43148440-43148479, 43148489-43148512, 43148523-43148538, 43148542-43148545, 43148572-43148575 |
| 327 | SUCLA2 | 13 | 0.95905172413793 | 57 | 1392 | 48547467, 48547491, 48571058-48571073, 48575325-48575363 |
| 328 | RB1 | 13 | 0.94007893792609 | 167 | 2787 | 48878058-48878185, 48947575-48947607, 48947623, 48947626-48947628, 49030451, 49039414 |
| 329 | RNASEH2B | 13 | 0.9531416400426 | 44 | 939 | 51484213-51484227, 51484229, 51484237-51484241, 51484248-51484268, 51484275-51484276 |
| 330 | ATP7B | 13 | 0.99681673487949 | 14 | 4398 | 52509778, 52518335, 52518345-52518356 |
| 331 | CLN5 | 13 | 0.94199346405229 | 71 | 1224 | 77566148-77566159, 77566164-77566175, 77566257-77566259, 77566262-77566274, 77566280-77566289, 77566386-77566406 |
| 332 | EDNRB | 13 | 0.99172310007524 | 11 | 1329 | 78474736-78474740, 78474783-78474785, 78475332, 78477678-78477679 |
| 333 | SLITRK1 | 13 | 0.99952175992348 | 1 | 2091 | 84453778 |
| 334 | GPC6 | 13 | 0.99400479616307 | 10 | 1668 | 93879795-93879800, 93879866-93879869 |
| 335 | ZIC2 | 13 | 0.47279549718574 | 843 | 1599 | 100634319-100634765, 100634773-100634779, 100634788-100634796, 100634814-100634817, 100634820-100634823, 100634827, 100634840-100634842, 100634845-100634849, 100634859-100634896, 100634904-100634910, 100635008-100635013, 100635017-100635019, 100635030-100635039, 100635043-100635045, 100635163, 100635223, 100635343-100635347, 100637243, 100637246, 100637253, 100637256-100637259, 100637274-100637276, 100637292-100637295, 100637580, 100637595-100637688, 100637710-100637884, 100637892, 100637903-100637906 |
| 336 | PCCA | 13 | 0.98582533150434 | 31 | 2187 | 100741426, 100741432-100741448, 100741451-100741453, 100741456-100741460, 100741464, 100764095-100764096, 100909902, 100909907 |
| 337 | ERCC5 | 13 | 0.99150743099788 | 36 | 4239 | 103513992, 103514581, 103514622, 103515391-103515401, 103518677-103518694, 103518697-103518700 |
| 338 | COL4A1 | 13 | 0.9686626746507 | 157 | 5010 | 110804802-110804805, 110804809-110804821, 110814734, 110814740, 110822907-110822921, 110847416, 110853834, 110859047-110859050, 110864218-110864228, 110864248-110864269, 110959291-110959374 |
| 339 | F7 | 13 | 0.88089887640449 | 159 | 1335 | 113765004-113765069, 113765079-113765089, 113765093, 113765103-113765105, 113765133-113765136, 113765141-113765143, 113772942-113772977, 113773022-113773043, 113773142-113773145, 113773159-113773161, 113773167, 113773170-113773172, 113773174, 113773288 |
| 340 | F10 | 13 | 0.98500340831629 | 22 | 1467 | 113777183-113777186, 113777197-113777203, 113777206-113777208, 113777212-113777214, 113798230, 113798390-113798391, 113803269, 113803687 |
| 341 | GRK1 | 13 | 0.97635933806147 | 40 | 1692 | 114322133-114322137, 114322143-114322150, 114325888, 114325903, 114325942, 114325949-114325971, 114426047 |
| 342 | TEP1 | 14 | 0.99606798579401 | 31 | 7884 | 20841506-20841513, 20841516-20841517, 20844394, 20848475-20848477, 20851407, 20851762-20851775, 20851782, 20872889 |
| 343 | RPGRIP1 | 14 | 0.99481999481999 | 20 | 3861 | 21769190-21769198, 21769221-21769222, 21769324-21769325, 21785921-21785927 |
| 344 | SLC7A7 | 14 | 0.98958333333333 | 16 | 1536 | 23282110, 23282117-23282128, 23282134, 23282141, 23282153 |
| 345 | PABPN1 | 14 | 0.61237785016287 | 357 | 921 | 23790679-23791029, 23793487-23793491, 23793496 |
| 346 | MYH6 | 14 | 0.9893470790378 | 62 | 5820 | 23852500-23852502, 23852525-23852526, 23857063-23857065, 23857395, 23858179-23858184, 23858210-23858215, 23858220-23858235, 23858243-23858256, 23859409-23859416, 23859424, 23871801, 23872651 |
| 347 | MYH7 | 14 | 0.97882231404959 | 123 | 5808 | 23885264-23885285, 23886728-23886731, 23886767, 23886835, 23886872-23886876, 23887522-23887526, 23887532, 23887556-23887590, 23888406-23888428, 23889208-23889210, 23889220, 23889233, 23891412-23891413, 23891501-23891516, 23900175, 23900996-23900997 |
| 348 | NRL | 14 | 0.64145658263305 | 256 | 714 | 24550468, 24550472, 24550475-24550478, 24550481, 24550485-24550487, 24550536-24550774, 24551763, 24551780, 24551812-24551815, 24551818 |
| 349 | PCK2 | 14 | 0.99895995839834 | 2 | 1923 | 24563627, 24566306 |
| 350 | TINF2 | 14 | 0.98598820058997 | 19 | 1356 | 24711485, 24711490-24711495, 24711498-24711501, 24711506, 24711509, 24711520-24711523, 24711537-24711538 |
| 351 | TGM1 | 14 | 0.99796251018745 | 5 | 2454 | 24723480-24723481, 24723484-24723486 |
| 352 | FOXG1 | 14 | 0.63605442176871 | 535 | 1470 | 29236486-29236974, 29237177-29237200, 29237224-29237227, 29237346, 29237349, 29237352, 29237355-29237357, 29237589-29237600 |
| 353 | COCH | 14 | 0.97459165154265 | 42 | 1653 | 31344178, 31344262-31344302 |
| 354 | CFL2 | 14 | 0.99201596806387 | 4 | 501 | 35182337, 35183744-35183746 |
| 355 | NKX2-1 | 14 | 0.51907131011609 | 580 | 1206 | 36986585-36986931, 36986959-36986961, 36987028-36987032, 36987038, 36987071-36987077, 36987085-36987091, 36987094-36987123, 36987166-36987175, 36987180-36987184, 36988193, 36988212-36988219, 36988221-36988227, 36988236-36988245, 36988268-36988269, 36988276, 36988315, 36988318, 36988326, 36988333, 36988340, 36988346-36988349, 36988376-36988384, 36988391-36988401, 36988404, 36988411-36988420, 36988422-36988440, 36989258-36989334 |
| 356 | PAX9 | 14 | 0.99025341130604 | 10 | 1026 | 37132254-37132257, 37132263, 37132648, 37132655, 37132660, 37135744, 37135752 |
| 357 | FANCM | 14 | 0.98470798763625 | 94 | 6147 | 45605354-45605355, 45605358-45605359, 45605362, 45605370-45605371, 45605375-45605380, 45623924, 45623933-45623934, 45623995-45624025, 45653060, 45653063, 45667847-45667889, 45667913, 45667929 |
| 358 | MGAT2 | 14 | 0.98139880952381 | 25 | 1344 | 50088117-50088126, 50088130, 50088137-50088149, 50088342 |
| 359 | C14orf104 | 14 | 0.75059665871122 | 627 | 2514 | 50092506-50092510, 50100347-50100350, 50100354, 50100364, 50100595-50100605, 50100643, 50100659, 50100683, 50100695, 50100728, 50100746-50100756, 50100766-50100858, 50100867-50100882, 50100911, 50100928-50101175, 50101197-50101200, 50101234-50101244, 50101246-50101266, 50101270-50101274, 50101344-50101370, 50101374, 50101381-50101394, 50101410-50101413, 50101420, 50101424, 50101432, 50101436-50101440, 50101467-50101470, 50101473-50101474, 50101480-50101488, 50101530-50101537, 50101548-50101556, 50101562-50101572, 50101626-50101632, 50101692-50101694, 50101701, 50101704-50101707, 50101714-50101720, 50101752-50101777, 50101795-50101818, 50101837-50101857 |
| 360 | L2HGDH | 14 | 0.98132183908046 | 26 | 1392 | 50713924, 50778732-50778740, 50778776-50778785, 50778788-50778793 |
| 361 | ATL1 | 14 | 0.99939831528279 | 1 | 1662 | 51062350 |
| 362 | PYGL | 14 | 0.98584905660377 | 36 | 2544 | 51379782-51379786, 51410944-51410974 |
| 363 | GCH1 | 14 | 0.69322709163347 | 231 | 753 | 55312514-55312527, 55326403, 55326410-55326417, 55369080-55369094, 55369104-55369135, 55369152-55369155, 55369211-55369218, 55369233-55369381 |
| 364 | OTX2 | 14 | 0.99552572706935 | 4 | 894 | 57272089-57272090, 57272098-57272099 |
| 365 | SIX6 | 14 | 0.92307692307692 | 57 | 741 | 60976215-60976225, 60976231-60976243, 60976246, 60976373-60976379, 60976406, 60976425-60976432, 60976684-60976688, 60977809-60977810, 60977825-60977831, 60977855, 60977884 |
| 366 | SIX1 | 14 | 0.88187134502924 | 101 | 855 | 61113094, 61115358-61115370, 61115425-61115431, 61115438-61115450, 61115454, 61115500-61115505, 61115529-61115557, 61115601-61115621, 61115730, 61115745-61115748, 61115903-61115907 |
| 367 | SYNE2 | 14 | 0.99469214437367 | 110 | 20724 | 64421488-64421499, 64443350, 64445589, 64457186, 64457189, 64457762, 64457765, 64457781-64457811, 64467331, 64469665, 64483282, 64484383, 64484397, 64488119, 64494410-64494411, 64494414, 64494426, 64494429-64494431, 64494442-64494446, 64516394-64516397, 64518490, 64522843, 64556380, 64580270, 64676742-64676743, 64676808-64676811, 64676814-64676815, 64676818-64676831, 64685220-64685221, 64685224, 64692109, 64692112-64692117, 64692121-64692123 |
| 368 | ZFYVE26 | 14 | 0.99081364829396 | 70 | 7620 | 68215217, 68215262, 68228135-68228151, 68241781-68241782, 68242682-68242688, 68242691, 68249711, 68250184-68250190, 68257294-68257296, 68272198, 68274209, 68274218-68274245 |
| 369 | VSX2 | 14 | 0.85174953959484 | 161 | 1086 | 74706295-74706321, 74706335-74706336, 74706344, 74706347-74706349, 74706360-74706365, 74706368-74706369, 74706403-74706408, 74706410-74706419, 74706422-74706486, 74706492-74706496, 74706501, 74706504-74706510, 74706518-74706520, 74706595-74706610, 74727397-74727398, 74727481-74727482, 74727486-74727487, 74727493 |
| 370 | EIF2B2 | 14 | 0.95170454545455 | 51 | 1056 | 75469746, 75471491-75471497, 75471499-75471525, 75471571-75471577, 75471587-75471594, 75471597 |
| 371 | MLH3 | 14 | 0.99931224209078 | 3 | 4362 | 75500141, 75506675-75506676 |
| 372 | FLVCR2 | 14 | 0.99873497786211 | 2 | 1581 | 76045504, 76045888 |
| 373 | TGFB3 | 14 | 0.99596448748991 | 5 | 1239 | 76447073, 76447213-76447215, 76447224 |
| 374 | ESRRB | 14 | 0.95088408644401 | 75 | 1527 | 76957940, 76964619-76964628, 76964655, 76964668-76964677, 76964683-76964687, 76964690-76964692, 76964699-76964734, 76964743-76964746, 76964752, 76964755-76964758 |
| 375 | POMT2 | 14 | 0.94584997780737 | 122 | 2253 | 77745188-77745189, 77745193, 77786817, 77786837, 77786841, 77786846-77786847, 77786854-77786902, 77786936-77786990, 77787012-77787021 |
| 376 | VIPAR | 14 | 0.98650472334683 | 20 | 1482 | 77894721-77894729, 77894750-77894758, 77894761, 77917626 |
| 377 | TSHR | 14 | 0.99782135076253 | 5 | 2295 | 81422056-81422060 |
| 378 | GALC | 14 | 0.92711370262391 | 150 | 2058 | 88417092, 88448552-88448555, 88459320-88459433, 88459441-88459471 |
| 379 | SPATA7 | 14 | 0.97888888888889 | 38 | 1800 | 88857730, 88857751-88857752, 88859738, 88859779, 88859782-88859789, 88859813-88859815, 88883147-88883148, 88883150, 88883152, 88883169-88883172, 88883182-88883187, 88894017-88894024 |
| 380 | TTC8 | 14 | 0.97739018087855 | 35 | 1548 | 89323596, 89343671-89343680, 89343686-89343687, 89343711-89343732 |
| 381 | ATXN3 | 14 | 0.96408839779006 | 39 | 1086 | 92537318, 92537351-92537382, 92559657-92559662 |
| 382 | VRK1 | 14 | 0.96557514693535 | 41 | 1191 | 97304109, 97304115-97304121, 97304132-97304135, 97304145-97304154, 97322527, 97322532-97322541, 97322546-97322552, 97326899 |
| 383 | AMN | 14 | 0.43465491923642 | 770 | 1362 | 103390108-103390145, 103394797, 103394801-103394805, 103394808, 103394814-103394822, 103394825, 103395095-103395130, 103395136-103395145, 103395166, 103395170-103395177, 103395180, 103395186-103395203, 103395208-103395218, 103395238-103395244, 103395260-103395266, 103395276-103395283, 103395285, 103395291-103395292, 103395466-103395477, 103395491-103395595, 103395765-103395797, 103395803-103395841, 103395992-103396003, 103396015-103396016, 103396019, 103396024-103396030, 103396043-103396047, 103396272-103396283, 103396286-103396293, 103396298-103396303, 103396306-103396308, 103396314-103396315, 103396334, 103396349-103396353, 103396377, 103396380-103396381, 103396404-103396423, 103396502-103396664, 103396743-103396830, 103396913-103396951, 103396959-103396963, 103396984-103397017 |
| 384 | INF2 | 14 | 0.8272 | 648 | 3750 | 105167705-105167712, 105167786-105167788, 105167795-105167798, 105167812, 105167868, 105167914-105167935, 105167952-105167978, 105169645-105169651, 105169657, 105169681, 105169756-105169758, 105170262-105170270, 105173605-105173632, 105173648-105173663, 105173671-105173683, 105173719, 105173732-105173794, 105173797, 105173803-105173809, 105173851-105174167, 105174181-105174198, 105174222-105174277, 105174293, 105174297, 105174314-105174315, 105174318, 105174899-105174900, 105174904, 105176027, 105177480-105177481, 105177491-105177492, 105177501-105177507, 105178022, 105178025, 105178877-105178888, 105180583-105180589 |
| 385 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 23086234-23086411 |
| 386 | SNRPN | 15 | 0.97786998616874 | 16 | 723 | 25222109-25222113, 25222124, 25222960-25222969 |
| 387 | UBE3A | 15 | 0.9927701674277 | 19 | 2628 | 25602027, 25602030, 25602042, 25616251-25616257, 25616620-25616626, 25620698, 25620762 |
| 388 | OCA2 | 15 | 0.9590782677791 | 103 | 2517 | 28202751, 28202797, 28202800, 28202805-28202811, 28202820, 28202823, 28263543-28263551, 28263554, 28263557-28263561, 28263665-28263666, 28263672, 28263682, 28273162, 28326844-28326848, 28326854, 28326857-28326864, 28326909-28326946, 28326959, 28326965-28326968, 28326971-28326984 |
| 389 | TRPM1 | 15 | 0.98524522028263 | 71 | 4812 | 31320550-31320620 |
| 390 | SLC12A6 | 15 | 0.99565595134666 | 15 | 3453 | 34530585, 34546726, 34547565, 34549916-34549918, 34549928-34549931, 34549954-34549958 |
| 391 | ACTC1 | 15 | 0.99823633156966 | 2 | 1134 | 35086892-35086893 |
| 392 | SPRED1 | 15 | 0.99700374531835 | 4 | 1335 | 38614481-38614483, 38614525 |
| 393 | IVD | 15 | 0.99375487900078 | 8 | 1281 | 40698034-40698039, 40698042-40698043 |
| 394 | CHST14 | 15 | 0.7816091954023 | 247 | 1131 | 40763413-40763545, 40763552-40763564, 40763573-40763574, 40763584, 40763587-40763592, 40763597, 40763636, 40763644, 40763647, 40763650-40763651, 40763659-40763664, 40763672-40763675, 40763680-40763690, 40763712, 40763752-40763758, 40763772-40763825, 40764412-40764414 |
| 395 | CAPN3 | 15 | 0.99387254901961 | 15 | 2448 | 42652043, 42652047, 42652056, 42652064-42652070, 42652080-42652083, 42678368 |
| 396 | CDAN1 | 15 | 0.85559174809989 | 532 | 3684 | 43017366-43017369, 43017740, 43017743-43017745, 43018332-43018347, 43019902, 43019909, 43019927-43019935, 43019938-43019939, 43021459, 43021462, 43021785-43021786, 43026458-43026459, 43026491-43026496, 43026501-43026514, 43026524-43026533, 43028159-43028172, 43028585-43028631, 43028664-43028693, 43028701-43028978, 43029211-43029300 |
| 397 | TTBK2 | 15 | 0.98313253012048 | 63 | 3735 | 43045356, 43067408-43067409, 43067412-43067413, 43069390, 43103886-43103927, 43109234, 43109283-43109295, 43164856 |
| 398 | STRC | 15 | 0.94313063063063 | 303 | 5328 | 43896235, 43896243, 43896251-43896253, 43896256, 43896303-43896312, 43897517-43897560, 43900153, 43903362, 43903368, 43905053, 43905059, 43905069-43905070, 43905075, 43905078, 43905307, 43905310-43905311, 43905314-43905318, 43905324-43905330, 43906205, 43906209-43906212, 43906226, 43907641-43907680, 43907745-43907767, 43908045, 43908061-43908118, 43908168-43908204, 43908735, 43910440, 43910863-43910914 |
| 399 | STRC | 15 | 0.98659966499162 | 8 | 597 | 44004769, 44004786-44004790, 44004802, 44004819 |
| 400 | STRC | 15 | 0.91384615384615 | 168 | 1950 | 44007103-44007142, 44007207-44007229, 44007507, 44007523-44007580, 44007630-44007666, 44008004, 44009583-44009584, 44009589-44009593, 44009608 |
| 401 | SPG11 | 15 | 0.99495362793235 | 37 | 7332 | 44876562-44876563, 44912475, 44912479, 44955626, 44955641, 44955645, 44955667-44955677, 44955686-44955704 |
| 402 | DUOX2 | 15 | 0.96126533247256 | 180 | 4647 | 45391878-45391881, 45393014-45393021, 45396475, 45398352-45398358, 45398363, 45398370-45398372, 45398377-45398391, 45401052, 45401057, 45403347-45403353, 45403395, 45403401, 45403585-45403618, 45403625-45403647, 45403657-45403660, 45403664, 45403711-45403771, 45403780-45403783, 45404040, 45404048, 45404796 |
| 403 | GATM | 15 | 0.95754716981132 | 54 | 1272 | 45654335, 45654339, 45670583-45670590, 45670603, 45670606, 45670610-45670651 |
| 404 | FBN1 | 15 | 0.99106313834726 | 77 | 8616 | 48719834-48719836, 48719879, 48719947, 48741042-48741043, 48766524-48766528, 48766783, 48766786, 48782183-48782199, 48782229-48782249, 48936942-48936966 |
| 405 | CEP152 | 15 | 0.99375629405841 | 31 | 4965 | 49036488, 49036497-49036505, 49036508-49036517, 49059361-49059362, 49076196, 49081148, 49081151-49081153, 49090175-49090178 |
| 406 | RAB27A | 15 | 0.9984984984985 | 1 | 666 | 55522625 |
| 407 | TPM1 | 15 | 0.97426900584795 | 22 | 855 | 63335038-63335039, 63335053, 63335108, 63335999-63336003, 63336006, 63336013-63336016, 63336019, 63336023, 63336025-63336030 |
| 408 | PPIB | 15 | 0.83870967741935 | 105 | 651 | 64455051-64455057, 64455088-64455185 |
| 409 | CLN6 | 15 | 0.87286324786325 | 119 | 936 | 68500480-68500484, 68500663-68500669, 68500744, 68506691-68506713, 68521840-68521922 |
| 410 | NR2E3 | 15 | 0.91213768115942 | 97 | 1104 | 72103850-72103853, 72103858, 72103865-72103874, 72103879-72103886, 72103899, 72103903, 72103926-72103949, 72104114, 72104119, 72104130-72104131, 72104134, 72104161-72104166, 72104173-72104174, 72104189-72104191, 72104385-72104407, 72104410, 72104801, 72105836-72105840, 72105854-72105855 |
| 411 | HEXA | 15 | 0.97547169811321 | 39 | 1590 | 72638937-72638949, 72668117, 72668128, 72668135-72668143, 72668152-72668156, 72668256-72668257, 72668267-72668271, 72668276-72668277, 72668290 |
| 412 | HCN4 | 15 | 0.63953488372093 | 1302 | 3612 | 73614822-73614855, 73614862-73614950, 73614979-73614994, 73615012-73615038, 73615044-73615181, 73615197-73615311, 73615391-73615428, 73615439, 73615464, 73615474-73615479, 73615490-73615495, 73615511-73615539, 73615563-73615566, 73615573-73615585, 73615595-73615662, 73615667, 73615672, 73615675-73615677, 73615713, 73615733-73615737, 73615741, 73615894-73615916, 73616059, 73616062-73616067, 73616076-73616095, 73616136-73616203, 73616241-73616246, 73616252-73616263, 73616273, 73616554-73616558, 73616579, 73624522-73624523, 73624526, 73636144, 73659858-73659863, 73659866, 73659995-73659996, 73660000, 73660056-73660062, 73660071-73660611 |
| 413 | MPI | 15 | 0.99449685534591 | 7 | 1272 | 75190052-75190058 |
| 414 | ETFA | 15 | 0.99600798403194 | 4 | 1002 | 76587994-76587997 |
| 415 | PSTPIP1 | 15 | 0.99920063948841 | 1 | 1251 | 77320231 |
| 416 | FAH | 15 | 0.99761904761905 | 3 | 1260 | 80445397, 80460421-80460422 |
| 417 | RPS17 | 15 | 0.86029411764706 | 57 | 408 | 82823387-82823393, 82824403-82824404, 82824408, 82824411, 82824414, 82824418, 82824471-82824513, 82824539 |
| 418 | RPS17 | 15 | 0.86029411764706 | 57 | 408 | 83207730-83207736, 83208746-83208747, 83208751, 83208754, 83208757, 83208761, 83208814-83208856, 83208882 |
| 419 | FANCI | 15 | 0.99974918485077 | 1 | 3987 | 89856184 |
| 420 | POLG | 15 | 0.9752688172043 | 92 | 3720 | 89864021-89864028, 89876452-89876456, 89876484-89876485, 89876498, 89876596, 89876599, 89876673-89876683, 89876686-89876696, 89876804-89876806, 89876816-89876826, 89876838-89876843, 89876846-89876849, 89876852-89876864, 89876913-89876918, 89876935-89876938, 89876941-89876945 |
| 421 | MESP2 | 15 | 0.68844221105528 | 372 | 1194 | 90319680-90319683, 90319745-90319891, 90319898-90319929, 90319950-90319969, 90319978-90320067, 90320070-90320088, 90320094, 90320097, 90320104-90320110, 90320118, 90320121-90320150, 90320161, 90320173, 90320223-90320229, 90320233, 90320240-90320241, 90320255, 90320386-90320392 |
| 422 | BLM | 15 | 0.98236953455571 | 75 | 4254 | 91310176, 91310190-91310196, 91310201, 91310205-91310207, 91312743-91312751, 91312796-91312801, 91328202-91328208, 91337466, 91337514-91337525, 91337534-91337540, 91337549-91337552, 91337561-91337564, 91347553-91347565 |
| 423 | VPS33B | 15 | 0.99784250269687 | 4 | 1854 | 91545355-91545357, 91565435 |
| 424 | IGF1R | 15 | 0.97173489278752 | 116 | 4104 | 99192811-99192904, 99250836, 99250912, 99473519-99473525, 99473529-99473530, 99500568-99500571, 99500625-99500626, 99500654-99500658 |
| 425 | HBZ | 16 | 0.38927738927739 | 262 | 429 | 202991, 203891-204095, 204271-204325, 204340 |
| 426 | HBM | 16 | 0.57511737089202 | 181 | 426 | 216012, 216027-216035, 216060, 216063, 216081-216082, 216295-216350, 216364-216471, 216624, 216698, 216702 |
| 427 | HBA2 | 16 | 0.82750582750583 | 74 | 429 | 222916, 222924-222929, 222940-222979, 223162-223168, 223176-223178, 223181, 223185, 223193-223196, 223212, 223220-223224, 223227-223228, 223252, 223257, 223312 |
| 428 | GNPTG | 16 | 0.93464052287582 | 60 | 918 | 1401967-1402018, 1402296-1402303 |
| 429 | CLCN7 | 16 | 0.90281224152192 | 235 | 2418 | 1497007-1497009, 1497016, 1497032-1497050, 1497508-1497531, 1497549-1497569, 1498982-1498983, 1499280-1499283, 1499288, 1500534, 1500557, 1500601, 1500613, 1501632-1501640, 1502787, 1506158-1506159, 1506162-1506164, 1524835-1524975 |
| 430 | IGFALS | 16 | 0.83592132505176 | 317 | 1932 | 1840613, 1840621, 1840764-1840791, 1840956, 1840977-1840978, 1840981-1840992, 1840995-1841000, 1841044, 1841100-1841120, 1841180, 1841186-1841188, 1841210-1841249, 1841336-1841337, 1841343, 1841452-1841458, 1841503-1841504, 1841509, 1841547, 1841551-1841560, 1841624-1841652, 1841734-1841736, 1841749-1841751, 1841758, 1841762-1841767, 1841772, 1841775-1841778, 1841789-1841791, 1841796, 1841798-1841799, 1841820-1841821, 1841824-1841853, 1842004-1842022, 1842068, 1842072-1842073, 1842078, 1842081, 1842084-1842085, 1842209, 1842262-1842272, 1842333-1842334, 1842345-1842350, 1842375-1842417, 1843646, 1843650 |
| 431 | GFER | 16 | 0.58090614886731 | 259 | 618 | 2034220-2034477, 2034811 |
| 432 | TSC2 | 16 | 0.97418879056047 | 140 | 5424 | 2103389-2103416, 2103428-2103431, 2108768, 2110807, 2112566, 2112988-2112993, 2114355, 2114360, 2114373-2114380, 2114383, 2121584-2121589, 2121863-2121866, 2121870, 2121883, 2121910-2121912, 2124240, 2124245, 2124364, 2124373, 2129635-2129637, 2129643, 2130254, 2130271, 2130274, 2130324, 2130329, 2130335, 2134507, 2136206-2136238, 2136297, 2136366-2136380, 2138319, 2138561, 2138569-2138574, 2138584 |
| 433 | PKD1 | 16 | 0.74659231722429 | 3272 | 12912 | 2139785-2139786, 2139826-2139849, 2139868-2139877, 2139883, 2139886-2139892, 2139897, 2140120-2140124, 2140137, 2140454, 2140467-2140475, 2140490-2140495, 2140529-2140567, 2140685-2140693, 2140698, 2140701-2140702, 2140704-2140707, 2140737, 2140784, 2140797-2140806, 2140898-2140907, 2140920-2140921, 2140926-2140929, 2140931-2140935, 2140938-2140945, 2140969-2141010, 2141019-2141023, 2141027, 2141030-2141038, 2141044-2141175, 2141424-2141516, 2141530-2141546, 2141567-2141573, 2141595-2141597, 2141782, 2141791-2141851, 2141906-2141907, 2142130, 2142504-2142509, 2142514-2142522, 2142526, 2142529, 2142567-2142570, 2142583-2142585, 2143946-2143966, 2143993-2143997, 2144151, 2144154-2144156, 2147165-2147210, 2147393-2147394, 2147397, 2147400-2147405, 2147410-2147411, 2147458-2147493, 2147937, 2147941-2147953, 2147975-2147976, 2149739-2149742, 2149769-2149771, 2149938, 2149941, 2150058-2150060, 2150066-2150069, 2150299-2150303, 2150309, 2150470-2150484, 2150554-2150567, 2152423-2152429, 2152473, 2152485, 2153288, 2153294, 2153301-2153303, 2153306, 2153309-2153310, 2153365, 2153368, 2153592-2153625, 2153650-2153770, 2153787-2153795, 2153799, 2153802, 2153820-2153858, 2154546-2154552, 2154559-2154643, 2155323-2155375, 2155875-2155895, 2155926, 2155984, 2155990, 2156092-2156114, 2156175, 2156181-2156182, 2156248-2156296, 2156433, 2156460, 2156474, 2156494-2156541, 2156659-2156676, 2156835-2156872, 2157884-2157898, 2157944-2157952, 2158288-2158299, 2158304, 2158311, 2158368-2158409, 2158476, 2158503-2158546, 2158553-2158572, 2158637-2158639, 2158692-2158732, 2158743-2158761, 2158782-2158794, 2158864-2158871, 2158901, 2158931-2158949, 2158981, 2159077-2159103, 2159144-2159180, 2159228-2159229, 2159234-2159237, 2159240-2159243, 2159251-2159253, 2159277-2159283, 2159288-2159297, 2159404, 2159415, 2159425, 2159430, 2159435, 2159463-2159490, 2159531-2159544, 2159623-2159642, 2159797, 2159805-2159807, 2160049-2160055, 2160100-2160147, 2160310, 2160314, 2160454-2160456, 2160526-2160532, 2160619-2160625, 2160685-2160733, 2160772, 2160836-2160838, 2161023, 2161081, 2161211, 2161214-2161215, 2161230-2161237, 2161299-2161306, 2161309-2161313, 2161317-2161318, 2161323-2161325, 2161331-2161336, 2161339-2161341, 2161351-2161353, 2161438, 2161459-2161502, 2161631-2161638, 2161660-2161697, 2161713-2161809, 2162423-2162429, 2162816-2162858, 2162958-2162962, 2163169-2163178, 2163267, 2163270, 2164214-2164251, 2164433, 2164524-2164539, 2164748-2164754, 2164802-2164818, 2165387-2165405, 2165545, 2166023, 2166034, 2166037, 2166085-2166091, 2166532-2166553, 2166559-2166608, 2166851-2166901, 2166910-2166941, 2166954-2167001, 2167522, 2167525, 2167546-2167574, 2167792-2167859, 2167870-2167881, 2167915-2167948, 2167954-2168000, 2168008-2168053, 2168061-2168075, 2168124-2168128, 2168138-2168247, 2168276-2168428, 2168457-2168458, 2168714-2168755, 2168770, 2168780, 2169368-2169379, 2185476-2185690 |
| 434 | ABCA3 | 16 | 0.98162267839687 | 94 | 5115 | 2328442-2328451, 2328986, 2331144-2331159, 2331450, 2331454, 2333200-2333211, 2334334, 2334935, 2338040-2338043, 2338048-2338049, 2338055-2338064, 2338071-2338077, 2338140, 2338245-2338248, 2338251, 2339538, 2339544-2339545, 2339550, 2339553, 2367693-2367699, 2374405-2374414 |
| 435 | MEFV | 16 | 0.95865302642796 | 97 | 2346 | 3304436-3304454, 3304500-3304502, 3304505-3304508, 3304514, 3304519-3304528, 3304536, 3304538, 3304552, 3304563-3304567, 3304573, 3304579-3304583, 3304598-3304600, 3304629-3304636, 3304642-3304661, 3304669-3304671, 3304674, 3304685-3304692, 3304694-3304695, 3306437 |
| 436 | SLX4 | 16 | 0.99037238873751 | 53 | 5505 | 3632375, 3632401, 3632404, 3632458, 3632503, 3632506, 3632578-3632582, 3632588, 3632591-3632592, 3632600-3632602, 3633279, 3633294, 3633298-3633300, 3639254, 3639785-3639790, 3639847-3639850, 3639855, 3647506-3647522, 3656548, 3656647 |
| 437 | CREBBP | 16 | 0.89248192113522 | 788 | 7329 | 3777730-3777785, 3777791-3777793, 3777873-3777898, 3778107-3778111, 3778118-3778123, 3778130, 3778139, 3778146-3778150, 3778255, 3778278, 3778280-3778289, 3778293-3778296, 3778300-3778302, 3778309-3778311, 3778397-3778413, 3778417-3778422, 3778435-3778443, 3778445-3778449, 3778455-3778464, 3778466-3778470, 3778544-3778546, 3778557-3778564, 3778601-3778608, 3778628, 3778632, 3778638-3778643, 3778655-3778659, 3778668, 3778672-3778675, 3778779-3778784, 3778787-3778789, 3778793-3778796, 3778801, 3778824-3779028, 3779038-3779041, 3779049-3779050, 3779062-3779065, 3779068, 3779076-3779080, 3779084, 3779143-3779145, 3779156, 3779163, 3779169-3779170, 3779175-3779183, 3779189-3779219, 3779228, 3779240-3779252, 3779271-3779276, 3779279, 3779285-3779286, 3779289, 3779304-3779307, 3779314-3779327, 3779331-3779339, 3779342, 3779356-3779391, 3779405-3779415, 3779420, 3779441-3779449, 3779455-3779498, 3779706-3779734, 3828047-3828048, 3831255, 3832710, 3843536-3843539, 3900795, 3900801-3900813, 3900819, 3900833, 3929833-3929917 |
| 438 | GLIS2 | 16 | 0.88761904761905 | 177 | 1575 | 4386758, 4386814, 4386819, 4386875-4386876, 4386881, 4386902, 4386905-4386906, 4386966, 4386976, 4386981-4386988, 4387026-4387034, 4387043-4387049, 4387076, 4387079, 4387090-4387144, 4387156, 4387159-4387182, 4387188, 4387190-4387197, 4387200-4387214, 4387223, 4387343, 4387346-4387351, 4387364-4387380, 4387401-4387409, 4387455-4387456 |
| 439 | ALG1 | 16 | 0.92258064516129 | 108 | 1395 | 5121889-5121890, 5121894, 5121896-5121908, 5121913, 5121932, 5125408, 5128834-5128875, 5130968-5130999, 5131027-5131036, 5131055, 5133755, 5134816-5134818 |
| 440 | ABAT | 16 | 0.99135063206919 | 13 | 1503 | 8829654-8829661, 8870256, 8870341-8870344 |
| 441 | PMM2 | 16 | 0.97975708502024 | 15 | 741 | 8891765-8891779 |
| 442 | LITAF | 16 | 0.99588477366255 | 2 | 486 | 11647430-11647431 |
| 443 | MYH11 | 16 | 0.98939393939394 | 63 | 5940 | 15809046-15809047, 15811095-15811153, 15835332, 15839081 |
| 444 | ABCC6 | 16 | 0.98049645390071 | 88 | 4512 | 16244029-16244036, 16244054, 16244061, 16248862-16248863, 16251634, 16259527, 16263554-16263558, 16263691, 16267156, 16276708-16276709, 16292019-16292021, 16308189, 16308196, 16313421-16313423, 16315668-16315688, 16317256-16317291 |
| 445 | UMOD | 16 | 0.95423816952678 | 88 | 1923 | 20355366-20355370, 20359867, 20359877, 20359983-20359993, 20360009-20360011, 20360017-20360027, 20360039-20360041, 20360101-20360103, 20360131-20360180 |
| 446 | OTOA | 16 | 0.98976608187135 | 35 | 3420 | 21696559-21696581, 21721293-21721300, 21768445, 21768473-21768474, 21768553 |
| 447 | OTOA | 16 | 0.99598393574297 | 4 | 996 | 22584583-22584585, 22584693 |
| 448 | SCNN1G | 16 | 0.99487179487179 | 10 | 1950 | 23200783-23200786, 23200789-23200794 |
| 449 | SCNN1B | 16 | 0.99479979199168 | 10 | 1923 | 23359950-23359955, 23360161, 23391898, 23391924-23391925 |
| 450 | COG7 | 16 | 0.99265023778642 | 17 | 2313 | 23415101, 23415104-23415105, 23415108-23415113, 23436130-23436136, 23436176 |
| 451 | PALB2 | 16 | 0.9983150800337 | 6 | 3561 | 23640589-23640591, 23640594-23640596 |
| 452 | CLN3 | 16 | 0.95216400911162 | 63 | 1317 | 28493431-28493434, 28493438, 28493963-28493974, 28497679-28497680, 28497686-28497689, 28497694-28497733 |
| 453 | TUFM | 16 | 0.95394736842105 | 63 | 1368 | 28857312, 28857338, 28857381-28857427, 28857556, 28857567-28857569, 28857575-28857576, 28857579-28857583, 28857586, 28857589-28857590 |
| 454 | ATP2A1 | 16 | 0.96773120425815 | 97 | 3006 | 28911961, 28911973-28911980, 28912005-28912011, 28912083-28912119, 28912131-28912142, 28912145-28912152, 28912162-28912171, 28913332, 28914226-28914232, 28914756-28914761 |
| 455 | CD19 | 16 | 0.99820466786355 | 3 | 1671 | 28948367, 28948377, 28948418 |
| 456 | PHKG2 | 16 | 0.91318591318591 | 106 | 1221 | 30760142-30760236, 30764722, 30764726, 30768025, 30768028, 30768031, 30768141-30768143, 30768339, 30768349-30768350 |
| 457 | VKORC1 | 16 | 0.91666666666667 | 41 | 492 | 31102643, 31102648-31102656, 31104735-31104737, 31105900, 31105915-31105917, 31105925-31105926, 31105944-31105965 |
| 458 | FUS | 16 | 0.9595192915876 | 64 | 1581 | 31195253-31195256, 31195261-31195263, 31195266-31195271, 31195279-31195280, 31195289-31195296, 31195676-31195706, 31196381, 31196402, 31196407, 31196417-31196422, 31202755 |
| 459 | SLC5A2 | 16 | 0.94105993065874 | 119 | 2019 | 31499027, 31499030, 31499714, 31499750-31499753, 31499772, 31499776, 31499943-31499963, 31500047-31500077, 31500091-31500093, 31500315-31500321, 31500338-31500362, 31500449-31500451, 31500457-31500459, 31500509-31500519, 31500639, 31501742-31501743, 31501745-31501746, 31501751 |
| 460 | PHKB | 16 | 0.99573430834857 | 14 | 3282 | 47533755-47533763, 47683045, 47723000, 47733184-47733186 |
| 461 | NOD2 | 16 | 0.97150176112712 | 89 | 3123 | 50733461-50733462, 50745050, 50745053-50745055, 50745312, 50745362-50745366, 50745432, 50745473-50745476, 50745521-50745544, 50745861-50745897, 50745928-50745938 |
| 462 | CYLD | 16 | 0.99440950384347 | 16 | 2862 | 50785588-50785589, 50785659-50785666, 50785700, 50785722, 50785728-50785730, 50785733 |
| 463 | SALL1 | 16 | 0.97081761006289 | 116 | 3975 | 51171105-51171125, 51175244, 51175248, 51175415, 51175418-51175420, 51175485, 51175490-51175494, 51175619-51175621, 51175634, 51175645-51175672, 51175675, 51175682-51175689, 51175692, 51175695, 51175711-51175712, 51175715, 51175743-51175763, 51185086-51185101 |
| 464 | RPGRIP1L | 16 | 0.99214792299899 | 31 | 3948 | 53656230, 53672247-53672268, 53672314, 53691437-53691440, 53691443-53691444, 53730163 |
| 465 | MMP2 | 16 | 0.94301563287948 | 113 | 1983 | 55513392-55513489, 55513504-55513507, 55513510, 55513513, 55523627-55523634, 55525740 |
| 466 | BBS2 | 16 | 0.99584487534626 | 9 | 2166 | 56553675-56553681, 56553687-56553688 |
| 467 | SLC12A3 | 16 | 0.98060135790495 | 60 | 3093 | 56899219, 56899223, 56899231-56899232, 56900984-56900986, 56901003-56901013, 56901073-56901078, 56901084, 56901092, 56901100-56901105, 56901108, 56921837, 56921840, 56921848, 56921920-56921943 |
| 468 | COQ9 | 16 | 0.99686520376176 | 3 | 957 | 57481418-57481420 |
| 469 | GPR56 | 16 | 0.99757751937984 | 5 | 2064 | 57684212-57684215, 57684240 |
| 470 | CNGB1 | 16 | 0.97896698615548 | 79 | 3756 | 57918185-57918188, 57918191-57918214, 57918219, 57918233-57918236, 57918243-57918244, 57918249-57918250, 57918280-57918283, 57918291, 57918294-57918297, 57918322-57918326, 57918330, 57918334-57918339, 57931773-57931792, 58001144 |
| 471 | TK2 | 16 | 0.90909090909091 | 84 | 924 | 66583841-66583844, 66583850-66583854, 66583870-66583872, 66583875-66583879, 66583884-66583886, 66583903-66583906, 66583927-66583931, 66583984-66583991, 66584003-66584049 |
| 472 | HSD11B2 | 16 | 0.68472906403941 | 384 | 1218 | 67465152-67465399, 67469641-67469650, 67469942-67469944, 67469968-67469995, 67470000-67470007, 67470038-67470043, 67470215, 67470270, 67470273-67470274, 67470495-67470501, 67470518-67470575, 67470629, 67470632, 67470688, 67470891-67470899 |
| 473 | LCAT | 16 | 0.93575207860922 | 85 | 1323 | 67973973, 67973976, 67973979, 67973983, 67973995, 67974106-67974112, 67976475-67976490, 67976822-67976828, 67976858, 67976861, 67976872-67976877, 67976965-67976968, 67976975-67976976, 67976983-67976984, 67976987, 67976990, 67976993-67977003, 67977011-67977014, 67977054-67977059, 67977063-67977069, 67977113-67977114, 67977961, 67977964 |
| 474 | CDH3 | 16 | 0.99598393574297 | 10 | 2490 | 68679551-68679553, 68679556, 68679596, 68679624-68679625, 68719158-68719159, 68725807 |
| 475 | CDH1 | 16 | 0.98565496413741 | 38 | 2649 | 68771329-68771366 |
| 476 | COG8 | 16 | 0.88961392060903 | 203 | 1839 | 69364752-69364761, 69364768-69364775, 69364786-69364791, 69364796, 69364808, 69364813, 69364822-69364824, 69364858-69364861, 69364868, 69364871-69364874, 69366734-69366745, 69368596-69368597, 69368812, 69373112-69373116, 69373122, 69373125-69373140, 69373184, 69373202-69373253, 69373261, 69373272-69373276, 69373287-69373303, 69373309-69373357, 69373413, 69373440 |
| 477 | AARS | 16 | 0.99896800825593 | 3 | 2907 | 70316547-70316549 |
| 478 | GCSH | 16 | 0.71647509578544 | 148 | 522 | 81129736-81129883 |
| 479 | GAN | 16 | 0.90133779264214 | 177 | 1794 | 81348719-81348885, 81388085, 81388221-81388224, 81388229, 81388232-81388235 |
| 480 | MLYCD | 16 | 0.64102564102564 | 532 | 1482 | 83932750-83933277, 83948757, 83948761-83948763 |
| 481 | LRRC50 | 16 | 0.98714416896235 | 28 | 2178 | 84179059, 84179069, 84179073-84179074, 84179097, 84179109, 84179113, 84179155-84179159, 84182731-84182732, 84199419-84199424, 84199427, 84199439, 84199447-84199452 |
| 482 | FOXF1 | 16 | 0.62017543859649 | 433 | 1140 | 86544176-86544264, 86544273-86544301, 86544323, 86544372-86544379, 86544385, 86544387, 86544390, 86544404-86544406, 86544419, 86544421-86544425, 86544455-86544461, 86544497-86544521, 86544526, 86544542-86544543, 86544547-86544548, 86544551-86544553, 86544575-86544579, 86544586, 86544612-86544615, 86544618-86544619, 86544623, 86544627-86544628, 86544647, 86544654-86544656, 86544693-86544702, 86544705, 86544709, 86544718, 86544721-86544725, 86544734-86544771, 86544781, 86544839-86544842, 86544849-86544895, 86544905, 86544909-86544934, 86544938, 86544955, 86544957-86544963, 86544966-86545001, 86545024-86545067, 86546650-86546656, 86546688-86546691 |
| 483 | FOXC2 | 16 | 0.45152722443559 | 826 | 1506 | 86601012-86601016, 86601040, 86601047-86601050, 86601068-86601097, 86601107-86601156, 86601179-86601207, 86601347-86601351, 86601426-86601485, 86601515-86601518, 86601520-86601526, 86601555-86601558, 86601563-86601565, 86601583-86601596, 86601599, 86601602-86601608, 86601624, 86601648-86602202, 86602261-86602296, 86602347, 86602350-86602351, 86602365, 86602432-86602436, 86602439 |
| 484 | JPH3 | 16 | 0.81041388518024 | 426 | 2247 | 87636818-87636851, 87636918-87636923, 87636926-87636943, 87636948-87636951, 87637093-87637109, 87678031-87678035, 87678037-87678038, 87678045-87678050, 87678134, 87678137, 87678144-87678147, 87678151, 87678281-87678286, 87678347, 87678355-87678356, 87678386-87678388, 87678426, 87678579-87678581, 87717748-87717777, 87723275-87723277, 87723286, 87723298-87723368, 87723423-87723447, 87723473, 87723477, 87723497, 87723509-87723518, 87723526-87723546, 87723549, 87723563-87723575, 87723583-87723594, 87723597-87723598, 87723601, 87723609, 87723613, 87723616-87723623, 87723625-87723630, 87723634-87723635, 87723641-87723643, 87723650-87723664, 87723674-87723694, 87723710-87723753, 87723890-87723894, 87723898, 87723942, 87723959-87723965, 87724004-87724006 |
| 485 | CYBA | 16 | 0.55272108843537 | 263 | 588 | 88709761-88709764, 88709772-88709979, 88712525-88712528, 88712532, 88712579-88712587, 88712590, 88712596-88712600, 88717364-88717380, 88717386-88717387, 88717410-88717421 |
| 486 | APRT | 16 | 0.87661141804788 | 67 | 543 | 88877972-88877974, 88877979-88877983, 88878026-88878064, 88878251, 88878289-88878307 |
| 487 | GALNS | 16 | 0.90694710006373 | 146 | 1569 | 88884444, 88884454-88884461, 88884472-88884479, 88884482-88884483, 88884525, 88893174, 88893177-88893181, 88923166-88923285 |
| 488 | SPG7 | 16 | 0.91457286432161 | 204 | 2388 | 89574826-89575008, 89598360-89598370, 89598378-89598379, 89598393-89598399, 89620356 |
| 489 | FANCA | 16 | 0.97161172161172 | 124 | 4368 | 89805043, 89805051, 89805099-89805116, 89805907, 89805922, 89805932-89805944, 89839759, 89842163-89842179, 89842183-89842193, 89842206, 89858339, 89858348-89858351, 89877378, 89877391-89877394, 89882945-89882958, 89882979-89882985, 89882996-89883023 |
| 490 | TUBB3 | 16 | 0.89135254988914 | 147 | 1353 | 89989810-89989866, 90001288-90001293, 90001694-90001699, 90001766, 90001770-90001772, 90001775-90001803, 90001923, 90001926, 90001988, 90001997-90002013, 90002030, 90002140-90002142, 90002145, 90002193-90002212 |
| 491 | PRPF8 | 17 | 0.99942922374429 | 4 | 7008 | 1576406, 1580454-1580455, 1587823 |
| 492 | ASPA | 17 | 0.99363057324841 | 6 | 942 | 3402371-3402376 |
| 493 | CTNS | 17 | 0.94596841230258 | 65 | 1203 | 3559794, 3559851-3559861, 3559879-3559880, 3559979-3559985, 3560005-3560012, 3560025, 3560030, 3560038-3560045, 3560066-3560089, 3564002, 3564006 |
| 494 | CHRNE | 17 | 0.972334682861 | 41 | 1482 | 4802140, 4802366, 4802378-4802380, 4802384, 4802596-4802599, 4802602-4802603, 4802613-4802618, 4802624-4802632, 4802635-4802636, 4802661, 4802763-4802766, 4802771-4802772, 4804096-4804097, 4804101-4804102, 4806344 |
| 495 | GP1BA | 17 | 0.93177083333333 | 131 | 1920 | 4835901, 4835917-4835919, 4835929-4835942, 4835947-4835957, 4835968, 4835971, 4835974, 4837150-4837172, 4837212-4837232, 4837237, 4837243-4837251, 4837458, 4837470-4837473, 4837595-4837607, 4837744-4837770 |
| 496 | ENO3 | 17 | 0.99770114942529 | 3 | 1305 | 4856376-4856378 |
| 497 | AIPL1 | 17 | 0.98787878787879 | 14 | 1155 | 6330068-6330069, 6330363-6330374 |
| 498 | PITPNM3 | 17 | 0.88307692307692 | 342 | 2925 | 6358667-6358963, 6360954-6360956, 6381352, 6387050-6387061, 6387559-6387565, 6459705-6459726 |
| 499 | ACADVL | 17 | 0.98932926829268 | 21 | 1968 | 7123311, 7123452-7123458, 7127802, 7127814-7127818, 7127975, 7127980, 7127983, 7128017-7128020 |
| 500 | CHRNB1 | 17 | 0.97941567065073 | 31 | 1506 | 7348451, 7348487-7348494, 7348503-7348504, 7348608, 7348611-7348619, 7348625, 7348674, 7348726-7348728, 7350217, 7350220, 7350450, 7350453, 7359184 |
| 501 | MPDU1 | 17 | 0.97983870967742 | 15 | 744 | 7490334-7490335, 7490517-7490529 |
| 502 | GUCY2D | 17 | 0.81642512077295 | 608 | 3312 | 7906366-7906845, 7906855-7906893, 7906906-7906912, 7907010-7907021, 7907170-7907180, 7907325-7907357, 7907421-7907426, 7915525, 7915536-7915537, 7915540, 7919800-7919804, 7919814-7919818, 7919829-7919834 |
| 503 | ALOX12B | 17 | 0.96296296296296 | 78 | 2106 | 7976165-7976174, 7976179-7976180, 7976190-7976200, 7982731, 7982734-7982737, 7982771-7982802, 7982813-7982820, 7983091-7983100 |
| 504 | ALOXE3 | 17 | 0.93492509363296 | 139 | 2136 | 8012518-8012521, 8013234-8013307, 8013441-8013466, 8013713, 8013716-8013720, 8013737, 8013742-8013744, 8013756, 8013759, 8013768-8013779, 8013782, 8020268-8020269, 8020274-8020281 |
| 505 | HES7 | 17 | 0.18436578171091 | 553 | 678 | 8024889-8025122, 8025137-8025181, 8025192-8025340, 8025661-8025748, 8026381-8026417 |
| 506 | MYH8 | 17 | 0.97712418300654 | 133 | 5814 | 10293846, 10293850, 10293860-10293871, 10293874, 10301891-10301957, 10302114-10302161, 10315757, 10315994, 10315997 |
| 507 | MYH2 | 17 | 0.99244764847237 | 44 | 5826 | 10426880-10426881, 10427087, 10429093-10429096, 10429101-10429102, 10430072-10430078, 10431100, 10439898-10439905, 10442550-10442556, 10442562, 10442567, 10442801-10442809, 10446435 |
| 508 | MYH3 | 17 | 0.99416108535119 | 34 | 5823 | 10534932-10534936, 10534942-10534949, 10535151-10535163, 10535240, 10535254-10535255, 10538855-10538859 |
| 509 | SCO1 | 17 | 0.92715231788079 | 66 | 906 | 10600552-10600554, 10600651-10600694, 10600712-10600718, 10600723, 10600728-10600733, 10600750, 10600755-10600758 |
| 510 | ELAC2 | 17 | 0.98226521563886 | 44 | 2481 | 12896180-12896197, 12896230, 12899054, 12899058-12899065, 12899919, 12899992-12899995, 12903482, 12903518, 12921167, 12921175, 12921235, 12921238-12921243 |
| 511 | COX10 | 17 | 0.99324324324324 | 9 | 1332 | 14095306-14095312, 14110306, 14110504 |
| 512 | PMP22 | 17 | 0.91925465838509 | 39 | 483 | 15163974-15163984, 15164002-15164003, 15164005-15164006, 15164009-15164010, 15164013, 15164015-15164018, 15164025, 15164029-15164044 |
| 513 | TNFRSF13B | 17 | 0.98979591836735 | 9 | 882 | 16843724-16843725, 16843728-16843729, 16843750-16843754 |
| 514 | FLCN | 17 | 0.99827586206897 | 3 | 1740 | 17117000, 17117063, 17127454 |
| 515 | RAI1 | 17 | 0.91050515644118 | 512 | 5721 | 17696271-17696277, 17696361, 17696368, 17696376-17696377, 17696381-17696391, 17696398-17696399, 17696414-17696430, 17696438-17696484, 17696517, 17696521, 17696531-17696539, 17696562, 17696608-17696614, 17696637-17696640, 17696655, 17696659, 17696774-17696808, 17696951, 17697099-17697106, 17697113-17697120, 17697127-17697136, 17697140, 17697145, 17697407-17697414, 17697495-17697524, 17697620-17697621, 17697635, 17697732-17697772, 17697840-17697841, 17698038, 17698082, 17698230-17698237, 17698241, 17698244, 17698259-17698270, 17698723-17698749, 17698769-17698810, 17698826-17698829, 17698846-17698848, 17698875-17698885, 17699153-17699155, 17699158-17699159, 17699386-17699395, 17699507-17699515, 17699551-17699554, 17699606-17699615, 17699620-17699637, 17699657-17699687, 17699866-17699873, 17700884-17700885, 17700893, 17700945-17700952, 17700955, 17701465, 17701543-17701570, 17713292-17713295 |
| 516 | ATPAF2 | 17 | 0.96206896551724 | 33 | 870 | 17924472, 17942286-17942317 |
| 517 | MYO15A | 17 | 0.87048050599452 | 1372 | 10593 | 18022591-18022592, 18022600-18022602, 18022634-18022651, 18022836, 18023478, 18023744-18023781, 18023804-18023810, 18023831-18023859, 18023877-18023949, 18023990-18024825, 18024831-18024853, 18024875-18024883, 18024897, 18024913-18024916, 18024947-18024949, 18024952-18024956, 18024963, 18025020-18025061, 18025067-18025082, 18025181-18025187, 18025438-18025445, 18029748-18029770, 18049348-18049356, 18049361-18049363, 18051408-18051436, 18052827-18052833, 18054460, 18054472-18054476, 18054486, 18054822-18054828, 18057095-18057139, 18057144, 18057160, 18057163-18057168, 18057179-18057202, 18058677, 18061066, 18061095, 18061138-18061139, 18061148-18061150, 18061156, 18061159, 18061164-18061166, 18061178-18061179, 18061202-18061209, 18061860-18061869, 18061873-18061884, 18064642, 18070913-18070921, 18070930-18070937, 18070942-18070944, 18070948, 18070954, 18070960-18070968, 18070973-18070978 |
| 518 | ALDH3A2 | 17 | 0.99803536345776 | 3 | 1527 | 19552343, 19552346, 19552364 |
| 519 | UNC119 | 17 | 0.69571230982019 | 220 | 723 | 26879356-26879575 |
| 520 | NEK8 | 17 | 0.999037999038 | 2 | 2079 | 27067501, 27067529 |
| 521 | SLC6A4 | 17 | 0.95826730058109 | 79 | 1893 | 28534793-28534810, 28536193-28536225, 28536251-28536260, 28543165, 28548822-28548838 |
| 522 | NF1 | 17 | 0.98274647887324 | 147 | 8520 | 29422328-29422387, 29546052-29546087, 29548868-29548872, 29548886-29548888, 29562701-29562708, 29586133-29586136, 29586146-29586147, 29588820-29588829, 29654540, 29663402-29663408, 29664401-29664404, 29664437-29664440, 29665152, 29665807, 29665820 |
| 523 | HNF1B | 17 | 0.96057347670251 | 66 | 1674 | 36104644-36104645, 36104647-36104648, 36104654-36104660, 36104665, 36104675, 36104714-36104719, 36104725, 36104741-36104742, 36104752, 36104763, 36104788, 36104795, 36104817, 36104822-36104856, 36104862-36104865 |
| 524 | TCAP | 17 | 0.80952380952381 | 96 | 504 | 37821615, 37821629, 37821710-37821711, 37821719, 37822015-37822025, 37822043-37822053, 37822063-37822069, 37822132, 37822136-37822145, 37822153-37822180, 37822184-37822191, 37822202-37822216 |
| 525 | KRT10 | 17 | 0.81880341880342 | 318 | 1755 | 38975083-38975398, 38978780-38978781 |
| 526 | KRT13 | 17 | 0.9840232389252 | 22 | 1377 | 39658742-39658761, 39659643-39659644 |
| 527 | KRT9 | 17 | 0.98771367521368 | 23 | 1872 | 39728145-39728167 |
| 528 | KRT14 | 17 | 0.93516560958421 | 92 | 1419 | 39738757-39738763, 39739557, 39739569-39739574, 39742846-39742879, 39742962-39743001, 39743046, 39743051, 39743070, 39743081 |
| 529 | KRT16 | 17 | 0.92053445850914 | 113 | 1422 | 39766219-39766271, 39768490-39768496, 39768740-39768772, 39768825-39768834, 39768840-39768843, 39768848-39768850, 39768854-39768856 |
| 530 | KRT17 | 17 | 0.91685912240185 | 108 | 1299 | 39776928, 39776934-39776939, 39776949, 39776960-39776992, 39780380-39780392, 39780516-39780522, 39780546-39780589, 39780628, 39780677, 39780680 |
| 531 | JUP | 17 | 0.98704200178731 | 29 | 2238 | 39925388-39925404, 39925678-39925683, 39925698, 39925701, 39925707-39925710 |
| 532 | FKBP10 | 17 | 0.98170383076043 | 32 | 1749 | 39969287-39969318 |
| 533 | STAT5B | 17 | 0.93993231810491 | 142 | 2364 | 40364057, 40370276-40370278, 40371361-40371404, 40371419-40371454, 40371792-40371835, 40384084, 40384089-40384090, 40384113-40384123 |
| 534 | STAT3 | 17 | 0.99956766104626 | 1 | 2313 | 40489806 |
| 535 | NAGLU | 17 | 0.85618279569892 | 321 | 2232 | 40688291-40688328, 40688337-40688567, 40688593-40688600, 40688603-40688620, 40688627-40688629, 40688632, 40688644-40688647, 40688661-40688673, 40695094, 40695948-40695951 |
| 536 | WNK4 | 17 | 0.94319399785638 | 212 | 3732 | 40932717-40932755, 40932775-40932782, 40932786-40932796, 40932798-40932831, 40932837-40932844, 40932849-40932850, 40932853, 40932862-40932866, 40932869-40932872, 40932891-40932906, 40932909-40932918, 40932926-40932929, 40932989-40932994, 40933001-40933003, 40933063, 40933068, 40933072-40933075, 40933080-40933087, 40933090-40933092, 40936165-40936168, 40937362-40937364, 40937407, 40945726, 40946669, 40947039, 40947219-40947221, 40947224-40947231, 40947248-40947249, 40947261-40947264, 40947498-40947504, 40947515-40947523 |
| 537 | BRCA1 | 17 | 0.99893899204244 | 6 | 5655 | 41226352-41226355, 41231373, 41231376 |
| 538 | SOST | 17 | 0.65109034267913 | 224 | 642 | 41832710-41832711, 41832722-41832729, 41832733, 41832764, 41832767-41832769, 41832776, 41832781, 41832784-41832841, 41832873, 41832886, 41832889-41832927, 41832933-41832935, 41832984-41832997, 41833000-41833017, 41833025, 41833037-41833080, 41833103-41833130 |
| 539 | NAGS | 17 | 0.75077881619938 | 400 | 1605 | 42082032-42082071, 42082078-42082192, 42082218-42082226, 42082231, 42082236, 42082247-42082260, 42082265-42082270, 42082286-42082287, 42082304-42082314, 42082319, 42082324-42082328, 42082355-42082361, 42082387, 42082401, 42083074-42083083, 42083088, 42083095-42083101, 42083189-42083217, 42083249-42083264, 42083490-42083497, 42083526-42083564, 42083582-42083586, 42083589, 42083939-42083968, 42083975-42083981, 42084008, 42084011-42084018, 42084021-42084023, 42084029-42084046, 42084056, 42084070, 42084757 |
| 540 | SLC4A1 | 17 | 0.97441520467836 | 70 | 2736 | 42328570-42328572, 42328575, 42328581-42328585, 42328592-42328596, 42330544-42330552, 42330697-42330700, 42334864, 42334876-42334877, 42334897-42334912, 42335090, 42335095-42335099, 42335124-42335128, 42335134, 42335500-42335504, 42335510-42335511, 42335520-42335524 |
| 541 | GRN | 17 | 0.88608305274972 | 203 | 1782 | 42426630, 42426656, 42427810-42427812, 42427828-42427840, 42427849-42427851, 42427862, 42427878, 42428785-42428820, 42429123-42429124, 42429131, 42429145, 42429410-42429415, 42429418, 42429546-42429549, 42429555, 42429559, 42429562-42429566, 42429569-42429577, 42429596-42429598, 42429709-42429748, 42429773-42429807, 42429889-42429893, 42429908-42429914, 42430053, 42430071, 42430074-42430081, 42430104-42430106, 42430113-42430114, 42430118, 42430122, 42430126-42430130, 42430133 |
| 542 | ITGA2B | 17 | 0.93878205128205 | 191 | 3120 | 42452039-42452043, 42452047-42452081, 42452366-42452377, 42452387-42452388, 42452394-42452404, 42452421-42452423, 42455080-42455086, 42455096-42455098, 42457460, 42457467, 42457487, 42460940-42460943, 42460953-42460965, 42461466, 42462573-42462576, 42462930, 42462991-42462997, 42463009-42463063, 42463192-42463216 |
| 543 | GFAP | 17 | 0.98152424942263 | 24 | 1299 | 42992471-42992480, 42992484, 42992491, 42992504-42992509, 42992520-42992521, 42992527-42992530 |
| 544 | PLEKHM1 | 17 | 0.98297067171239 | 54 | 3171 | 43515286, 43515289, 43515307-43515310, 43515328, 43531273, 43531331-43531332, 43545695, 43553012-43553054 |
| 545 | MAPT | 17 | 0.96782496782497 | 75 | 2331 | 44055780-44055783, 44060774, 44061148, 44061159, 44061174-44061178, 44061181-44061183, 44061206-44061255, 44068899-44068900, 44073824, 44073827-44073829, 44073837-44073840 |
| 546 | WNT3 | 17 | 0.89325842696629 | 114 | 1068 | 44845805-44845806, 44845809-44845811, 44845814-44845815, 44847161-44847170, 44847180-44847191, 44847197, 44847202-44847207, 44847260-44847261, 44847287, 44847290, 44847343, 44847355-44847363, 44851034, 44851038, 44851041, 44851092, 44851123-44851126, 44851130, 44851142, 44851178-44851179, 44851183, 44851186-44851216, 44851219, 44851253-44851258, 44895929, 44895944-44895947, 44895950, 44895953-44895954, 44895959-44895963 |
| 547 | ITGB3 | 17 | 0.96535699197296 | 82 | 2367 | 45331228-45331306, 45351822-45351824 |
| 548 | PNPO | 17 | 0.99872773536896 | 1 | 786 | 46019047 |
| 549 | SGCA | 17 | 0.99054982817869 | 11 | 1164 | 48247631, 48247636-48247640, 48247651-48247655 |
| 550 | COL1A1 | 17 | 0.9353811149033 | 284 | 4395 | 48264067, 48265941-48265972, 48266770, 48267935, 48267940, 48268807-48268809, 48269858-48269862, 48269870-48269875, 48271800-48271808, 48271985-48271987, 48272161-48272189, 48272940-48272947, 48272955-48272973, 48272983, 48272992, 48272996, 48276608-48276650, 48276677-48276688, 48276779-48276814, 48276917-48276928, 48276946-48276951, 48277136-48277162, 48277304-48277308, 48278847-48278868 |
| 551 | NOG | 17 | 0.40772532188841 | 414 | 699 | 54671585-54671812, 54671824-54671843, 54671846-54671854, 54671865-54671871, 54671880-54671913, 54671915-54671917, 54671929, 54672084-54672088, 54672123-54672167, 54672177-54672238 |
| 552 | MKS1 | 17 | 0.99940476190476 | 1 | 1680 | 56292194 |
| 553 | RAD51C | 17 | 0.99381078691424 | 7 | 1131 | 56770063-56770068, 56809887 |
| 554 | TRIM37 | 17 | 0.99412780656304 | 17 | 2895 | 57089705-57089706, 57105898, 57105910-57105912, 57158515, 57158518-57158520, 57158530-57158531, 57168672-57168675, 57168699 |
| 555 | AP1S2 | 17 | 0.91666666666667 | 52 | 624 | 58180031-58180054, 58180062, 58180066-58180072, 58180075, 58180079, 58180082, 58180110-58180115, 58180122-58180123, 58180127-58180135 |
| 556 | CA4 | 17 | 0.87965921192758 | 113 | 939 | 58227396-58227453, 58236659-58236688, 58236692-58236701, 58236724-58236730, 58236736, 58236739-58236743, 58236771, 58236783 |
| 557 | TBX4 | 17 | 0.93284493284493 | 110 | 1638 | 59533895-59533930, 59533933-59533948, 59533959-59533960, 59533965, 59533968-59533987, 59533998-59534028, 59534031-59534033, 59560597 |
| 558 | BRIP1 | 17 | 0.99946666666667 | 2 | 3750 | 59821924, 59934592 |
| 559 | ACE | 17 | 0.89033409844427 | 430 | 3921 | 61554456-61554704, 61555451-61555459, 61557815, 61557827, 61559061, 61560028, 61561698, 61561712, 61561829, 61561836, 61561843-61561847, 61561851, 61566031, 61566147-61566152, 61574523-61574617, 61574630, 61574637-61574647, 61574658-61574669, 61574680-61574687, 61574699-61574700, 61574706-61574727 |
| 560 | TACO1 | 17 | 0.99328859060403 | 6 | 894 | 61678561-61678562, 61678572, 61678576-61678577, 61678580 |
| 561 | SCN4A | 17 | 0.97931409907458 | 114 | 5511 | 62019233-62019234, 62019277-62019279, 62026051-62026091, 62026883, 62028914, 62029043-62029059, 62029233, 62034577, 62036646-62036649, 62036761, 62038698, 62038710, 62038714-62038717, 62038728-62038730, 62038738, 62038754-62038760, 62038763, 62038768-62038791 |
| 562 | POLG2 | 17 | 0.99931412894376 | 1 | 1458 | 62474055 |
| 563 | AXIN2 | 17 | 0.93996840442338 | 152 | 2532 | 63532553-63532580, 63532625-63532628, 63532631, 63533084, 63533087-63533103, 63533106-63533113, 63533149-63533173, 63533510-63533528, 63533669, 63533681-63533688, 63533733-63533735, 63533749-63533753, 63533818-63533821, 63533830-63533832, 63533838, 63533841, 63534324-63534333, 63534337, 63545638-63545639, 63554671-63554673, 63554676-63554682 |
| 564 | SOX9 | 17 | 0.78692810457516 | 326 | 1530 | 70117533, 70117629-70117630, 70117634-70117639, 70117652, 70117674, 70117681-70117682, 70117847-70117855, 70117924-70117947, 70118873-70118874, 70118906-70118909, 70119041, 70119047, 70119761-70119768, 70119807-70119811, 70119822-70119831, 70119854-70119855, 70119864, 70119904-70119953, 70119959, 70119961-70119968, 70119973, 70119978-70119984, 70119988-70119989, 70119997, 70120000-70120005, 70120007-70120013, 70120016-70120097, 70120115-70120150, 70120221-70120227, 70120355, 70120381-70120409, 70120427-70120434 |
| 565 | COG1 | 17 | 0.8936459395175 | 313 | 2943 | 71189209-71189458, 71189465-71189497, 71189504-71189505, 71189514, 71189519-71189523, 71193176-71193186, 71196043-71196051, 71197677, 71199266 |
| 566 | DNAI2 | 17 | 0.98184818481848 | 33 | 1818 | 72306213-72306245 |
| 567 | USH1G | 17 | 0.90981240981241 | 125 | 1386 | 72915572-72915575, 72915579-72915582, 72915628-72915629, 72915634, 72915822, 72915831-72915835, 72915838, 72915853, 72915882, 72916202, 72916207, 72916212, 72916356-72916357, 72916417-72916426, 72916431-72916433, 72916457-72916460, 72916469-72916471, 72916475-72916477, 72916491-72916493, 72916508-72916514, 72916530, 72916536, 72916540, 72919005-72919062, 72919088, 72919111, 72919165-72919168 |
| 568 | SLC25A19 | 17 | 0.99584631360332 | 4 | 963 | 73273561-73273564 |
| 569 | TSEN54 | 17 | 0.84250474383302 | 249 | 1581 | 73512642-73512697, 73512827-73512980, 73513151, 73517929-73517931, 73517946-73517956, 73517962, 73518131, 73518134-73518138, 73518294, 73518297, 73518318-73518320, 73518344-73518349, 73518355-73518356, 73518359-73518361, 73518367 |
| 570 | ITGB4 | 17 | 0.9361857743646 | 349 | 5469 | 73723514-73723517, 73723761, 73725373, 73726326-73726349, 73726354-73726359, 73726435-73726440, 73726584-73726585, 73726966, 73726969-73726971, 73727044, 73727415-73727418, 73733694-73733697, 73733705-73733725, 73736542, 73738483, 73738565, 73738712-73738714, 73738733-73738769, 73738784-73738791, 73746257-73746269, 73746814, 73748262-73748272, 73749855-73749858, 73749865-73749870, 73749927-73749965, 73749969-73749973, 73749975, 73749985, 73749988-73750049, 73750730-73750745, 73751782-73751784, 73751789, 73751795-73751811, 73751854-73751885, 73751896, 73752788, 73752792-73752794, 73752860-73752862 |
| 571 | GALK1 | 17 | 0.82866836301951 | 202 | 1179 | 73754318, 73754324, 73754373-73754407, 73754442-73754450, 73754530, 73754581-73754596, 73754599-73754601, 73754634-73754673, 73759174, 73759179, 73760110, 73761058-73761062, 73761113-73761114, 73761117-73761122, 73761130-73761164, 73761173-73761217 |
| 572 | UNC13D | 17 | 0.95142071494042 | 159 | 3273 | 73824053-73824083, 73825035-73825037, 73826462-73826471, 73827204-73827205, 73827214-73827216, 73827224, 73827229-73827233, 73827390, 73827397-73827404, 73827407-73827414, 73827423-73827429, 73830457, 73830481-73830486, 73831511, 73831517, 73831533-73831540, 73831543, 73831597, 73831849-73831858, 73831973-73831975, 73832142-73832170, 73832284, 73832505, 73832758, 73832762, 73832947-73832949, 73832979, 73839254-73839255, 73839565, 73840384-73840391 |
| 573 | ACOX1 | 17 | 0.98739283913263 | 25 | 1983 | 73945876-73945879, 73956375-73956380, 73975048-73975062 |
| 574 | SEPT9 | 17 | 0.89494605337876 | 185 | 1761 | 75277618-75277636, 75398361-75398366, 75398724-75398732, 75398740-75398743, 75398748, 75484901-75484906, 75484914-75484917, 75494605-75494740 |
| 575 | GAA | 17 | 0.97866386848548 | 61 | 2859 | 78078555-78078556, 78078559-78078560, 78078565, 78078569-78078575, 78078584-78078591, 78078596, 78078709, 78079683-78079684, 78082577, 78083774, 78086377, 78086446, 78086449, 78086679-78086681, 78086691-78086699, 78086718-78086721, 78086724, 78087048, 78092063, 78092479-78092488, 78092535-78092536, 78092587 |
| 576 | SGSH | 17 | 0.92710404241219 | 110 | 1509 | 78185945-78185952, 78190831-78190844, 78190848-78190849, 78190854-78190860, 78190863, 78190884-78190887, 78194025-78194062, 78194075-78194077, 78194080-78194112 |
| 577 | ACTG1 | 17 | 0.99202127659574 | 9 | 1128 | 79477753, 79477756, 79478513-79478514, 79478606, 79478983-79478984, 79479309, 79479332 |
| 578 | FSCN2 | 17 | 0.75659229208925 | 360 | 1479 | 79495715-79495718, 79495735-79495768, 79495784-79495787, 79495793, 79495797-79495808, 79495826, 79495829-79495832, 79495861-79495867, 79495872-79495878, 79495882, 79495901-79495904, 79495939, 79495974-79495991, 79495994, 79496000-79496010, 79496074, 79496077, 79496092, 79496147-79496148, 79496227-79496239, 79496245-79496251, 79496336, 79503648-79503654, 79503661-79503662, 79503764, 79503770, 79503773, 79503796-79503801, 79503901-79504106 |
| 579 | LPIN2 | 18 | 0.99814195466369 | 5 | 2691 | 2922090, 2922094, 2922097, 2937741, 2960729 |
| 580 | TGIF1 | 18 | 0.95605306799337 | 53 | 1206 | 3452182-3452195, 3452217-3452255 |
| 581 | NDUFV2 | 18 | 0.94933333333333 | 38 | 750 | 9102742-9102777, 9119529-9119530 |
| 582 | AFG3L2 | 18 | 0.9281537176274 | 172 | 2394 | 12348356-12348382, 12353004-12353023, 12353059-12353067, 12358931, 12370915, 12376968-12377081 |
| 583 | MC2R | 18 | 0.99888143176734 | 1 | 894 | 13885095 |
| 584 | NPC1 | 18 | 0.9963513161324 | 14 | 3837 | 21118618, 21123499, 21166281-21166288, 21166298-21166301 |
| 585 | LAMA3 | 18 | 0.98410317936413 | 159 | 10002 | 21269648-21269706, 21269727-21269730, 21269744-21269795, 21269826, 21269857, 21269868, 21269879, 21269898-21269901, 21269907, 21269915-21269917, 21338460, 21343471-21343479, 21394427-21394430, 21426402-21426405, 21484040, 21508120-21508132 |
| 586 | DSC3 | 18 | 0.96246748420661 | 101 | 2691 | 28574175, 28574242-28574281, 28574335-28574338, 28622571-28622626 |
| 587 | DSC2 | 18 | 0.97450110864745 | 69 | 2706 | 28681866-28681934 |
| 588 | DSG2 | 18 | 0.98748882931189 | 42 | 3357 | 29078215-29078256 |
| 589 | TTR | 18 | 0.92792792792793 | 32 | 444 | 29178566-29178597 |
| 590 | DTNA | 18 | 0.99955197132616 | 1 | 2232 | 32455277 |
| 591 | LOXHD1 | 18 | 0.94725738396624 | 350 | 6636 | 44057582, 44098213, 44104525, 44104532, 44104540-44104551, 44126858-44126861, 44126876-44127021, 44140057-44140064, 44140067-44140068, 44140072, 44140076-44140078, 44140081, 44140106, 44140151-44140156, 44140172-44140177, 44140180-44140182, 44140187-44140191, 44140202-44140205, 44140214-44140219, 44140229-44140237, 44140260-44140318, 44140324-44140355, 44140390-44140419, 44140439-44140446 |
| 592 | MYO5B | 18 | 0.99044528574004 | 53 | 5547 | 47363082, 47365644, 47369745, 47373550, 47373554, 47373561-47373569, 47373598-47373607, 47373618-47373619, 47373624-47373627, 47373633-47373640, 47429034, 47429130-47429131, 47721137-47721138, 47721154-47721163 |
| 593 | SMAD4 | 18 | 0.94996986136227 | 83 | 1659 | 48581276-48581279, 48593433-48593445, 48593455-48593458, 48593470, 48603036-48603096 |
| 594 | TCF4 | 18 | 0.9985119047619 | 3 | 2016 | 52942961, 52942969, 53128305 |
| 595 | FECH | 18 | 0.94728682170543 | 68 | 1290 | 55247412, 55253786-55253852 |
| 596 | ATP8B1 | 18 | 0.98296059637913 | 64 | 3756 | 55315747, 55315770-55315771, 55315775-55315777, 55315779, 55315782-55315792, 55315802-55315805, 55315865-55315866, 55315871, 55315877-55315880, 55328513, 55328517-55328532, 55328535-55328536, 55328546, 55336598-55336605, 55398876-55398878, 55398920, 55398944-55398946 |
| 597 | RAX | 18 | 0.53602305475504 | 483 | 1041 | 56936282, 56936298-56936345, 56936359-56936597, 56936603-56936617, 56939791-56939803, 56939810-56939820, 56940150-56940177, 56940189-56940193, 56940202, 56940206-56940211, 56940217-56940298, 56940336, 56940346-56940368, 56940371-56940380 |
| 598 | LMAN1 | 18 | 0.95499021526419 | 69 | 1533 | 57000405-57000436, 57026410-57026443, 57026448-57026449, 57026454 |
| 599 | CCBE1 | 18 | 0.92465192465192 | 92 | 1221 | 57134027-57134066, 57134090, 57134094, 57134104, 57364493-57364530, 57364555-57364561, 57364566, 57364572-57364574 |
| 600 | TNFRSF11A | 18 | 0.88816855753647 | 207 | 1851 | 59992586-59992660, 60021735-60021738, 60021744-60021756, 60021761, 60036615-60036616, 60051984-60051985, 60052032-60052070, 60052079-60052115, 60052160-60052161, 60052177, 60052180-60052191, 60052200-60052209, 60052259-60052267 |
| 601 | CTDP1 | 18 | 0.87075537075537 | 373 | 2886 | 77439957-77440248, 77457912, 77474625-77474627, 77474695-77474702, 77474707, 77474712-77474718, 77474726, 77474730-77474734, 77474752-77474756, 77474927, 77475509-77475511, 77477960-77477961, 77496387, 77496472-77496503, 77513717-77513718, 77513721-77513724, 77513727, 77513731-77513734 |
| 602 | ELANE | 19 | 0.73009950248756 | 217 | 804 | 852876-852886, 852901, 852906-852933, 852953-852968, 852974-852979, 853029-853032, 853262-853403, 855624-855627, 855966, 856031, 856162-856164 |
| 603 | KISS1R | 19 | 0.28571428571429 | 855 | 1197 | 917503-917707, 917717-917746, 918544-918668, 919490-919511, 919881-919882, 919890-919922, 919928, 919932-919935, 919976, 920039, 920052-920061, 920065-920068, 920078, 920084-920106, 920290-920604, 920616-920617, 920642, 920663-920671, 920683-920748 |
| 604 | STK11 | 19 | 0.87096774193548 | 168 | 1302 | 1206928-1206935, 1207032-1207046, 1219409-1219412, 1220378-1220423, 1220580-1220581, 1220614-1220618, 1220629-1220635, 1221310-1221330, 1226466-1226474, 1226585-1226604, 1226616-1226646 |
| 605 | NDUFS7 | 19 | 0.93613707165109 | 41 | 642 | 1383926-1383941, 1388536, 1388539, 1388584-1388587, 1388863, 1388872, 1388875-1388881, 1391153-1391160, 1393306, 1395435 |
| 606 | GAMT | 19 | 0.84320987654321 | 127 | 810 | 1399822-1399829, 1401298-1401321, 1401327, 1401330-1401341, 1401378-1401448, 1401457-1401462, 1401466, 1401469-1401470, 1401474-1401475 |
| 607 | RAX2 | 19 | 0.66666666666667 | 185 | 555 | 3770619-3770625, 3770628, 3770631, 3770634-3770641, 3770654-3770655, 3770663, 3770675-3770676, 3770683-3770689, 3770696-3770703, 3770708-3770715, 3770736-3770796, 3770802-3770849, 3770897-3770927 |
| 608 | MAP2K2 | 19 | 0.92019950124688 | 96 | 1203 | 4099200, 4099206, 4099215, 4117563, 4123781-4123872 |
| 609 | NDUFA11 | 19 | 0.97417840375587 | 11 | 426 | 5896464-5896465, 5896570, 5896578-5896585 |
| 610 | TUBB4 | 19 | 0.92059925093633 | 106 | 1335 | 6495241-6495242, 6495406-6495416, 6495422, 6495432-6495449, 6495554, 6495567-6495574, 6495580, 6495584, 6495587-6495603, 6495613-6495614, 6495630-6495631, 6495636, 6495672, 6495746, 6495977-6495979, 6502170, 6502189-6502223 |
| 611 | C3 | 19 | 0.97135416666667 | 143 | 4992 | 6693473, 6693487-6693493, 6697406, 6707087-6707121, 6707140-6707154, 6707179-6707192, 6707234-6707236, 6707240, 6707263, 6707512-6707515, 6707524, 6707530, 6707811-6707848, 6709704-6709712, 6709721-6709722, 6709750, 6709848, 6709852, 6711203-6711205, 6713419, 6713518-6713520 |
| 612 | INSR | 19 | 0.97252349963847 | 114 | 4149 | 7122966-7122967, 7184468, 7184471, 7184499, 7184610-7184618, 7293803-7293902 |
| 613 | MCOLN1 | 19 | 0.95926563396443 | 71 | 1743 | 7587651, 7587654, 7587665-7587667, 7589998, 7593571, 7593577-7593578, 7593987-7593992, 7594509-7594512, 7594528, 7595257-7595271, 7595279-7595288, 7598493-7598508, 7598515-7598516, 7598519-7598524, 7598529, 7598535 |
| 614 | PNPLA6 | 19 | 0.88780120481928 | 447 | 3984 | 7604833-7604842, 7604849-7604856, 7605113-7605116, 7605118-7605123, 7605170, 7605174, 7605177-7605180, 7605193-7605194, 7606316-7606320, 7606472, 7606498, 7606508-7606515, 7606524-7606535, 7606870-7606875, 7607454, 7607460-7607469, 7607556, 7607776-7607782, 7615894-7615968, 7616251-7616261, 7616278-7616312, 7619097-7619146, 7619494-7619496, 7619522, 7619840-7619859, 7619872-7619873, 7619882, 7619897-7619961, 7620135-7620141, 7620157-7620205, 7620219, 7620228-7620253, 7620605, 7620608-7620610, 7620624, 7622080, 7622083, 7622095, 7622112-7622113, 7623818, 7623821, 7623833 |
| 615 | STXBP2 | 19 | 0.89281705948373 | 191 | 1782 | 7702036-7702063, 7706641-7706685, 7706691-7706709, 7706725, 7706730, 7706922, 7706935-7706936, 7706966, 7707089-7707091, 7707094-7707127, 7707317, 7707341-7707345, 7707366-7707368, 7707386, 7707393, 7707403-7707404, 7707885, 7707910-7707913, 7707924-7707926, 7708117, 7709576-7709578, 7709587, 7711135-7711164 |
| 616 | ADAMTS10 | 19 | 0.8780193236715 | 404 | 3312 | 8645777, 8645786-8645787, 8649821-8649824, 8649835-8649845, 8649883-8649898, 8649902, 8649907-8649913, 8649915, 8649919-8649920, 8650023-8650043, 8650053-8650116, 8650135-8650141, 8650151-8650185, 8650341-8650348, 8650360-8650367, 8650423-8650428, 8650433-8650439, 8650484, 8651576, 8654134-8654143, 8654148-8654162, 8654165, 8654167-8654176, 8654195-8654215, 8654228-8654234, 8654248-8654249, 8654338-8654339, 8654428, 8654443-8654469, 8656878-8656879, 8657670-8657673, 8665929-8665932, 8665959-8665974, 8669928-8669965, 8670082-8670087, 8670109, 8670161-8670168, 8670188-8670213 |
| 617 | TYK2 | 19 | 0.93939393939394 | 216 | 3564 | 10463110-10463121, 10463146-10463160, 10463214-10463227, 10463607-10463612, 10463624-10463674, 10463711-10463712, 10463728, 10463752-10463774, 10464204-10464247, 10464259, 10464267, 10464319-10464322, 10469857-10469859, 10469862-10469867, 10469873-10469875, 10469878, 10473071-10473073, 10473112, 10475298-10475304, 10475652, 10476301, 10476351, 10476356, 10476378, 10476381-10476386, 10476395-10476399, 10488965-10488966 |
| 618 | DNM2 | 19 | 0.92805204745503 | 188 | 2613 | 10828919-10829079, 10897353-10897354, 10897368, 10939797-10939807, 10939826-10939829, 10940858, 10940873, 10941660-10941661, 10941664-10941667, 10941674 |
| 619 | LDLR | 19 | 0.99806426635695 | 5 | 2583 | 11200276-11200278, 11224269, 11231166 |
| 620 | PRKCSH | 19 | 0.91115311909263 | 141 | 1587 | 11552128-11552135, 11556208-11556212, 11557108, 11557111, 11557142, 11557957, 11558255-11558258, 11558265, 11558286-11558328, 11558337-11558408, 11558535-11558536, 11558552, 11559959 |
| 621 | MAN2B1 | 19 | 0.9370882740448 | 191 | 3036 | 12758083-12758087, 12758094-12758108, 12758111-12758117, 12758330-12758337, 12758366, 12758377-12758388, 12758391, 12758395, 12758407-12758412, 12758998-12758999, 12759009, 12759017-12759020, 12759045-12759066, 12759077-12759078, 12759081, 12759122, 12759136-12759142, 12759970, 12761015-12761022, 12766683-12766689, 12767853-12767854, 12767858-12767860, 12767869, 12768268-12768274, 12768279-12768280, 12768282-12768307, 12768918, 12768922, 12768927, 12768939, 12777430, 12777440-12777462, 12777469-12777477, 12777504 |
| 622 | GCDH | 19 | 0.94001518602885 | 79 | 1317 | 13002125-13002158, 13002166-13002204, 13006858-13006860, 13006870-13006872 |
| 623 | CACNA1A | 19 | 0.80866905996543 | 1439 | 7521 | 13318127, 13318156-13318173, 13318178-13318179, 13318184-13318198, 13318210-13318216, 13318233-13318867, 13319570, 13319584-13319589, 13319592-13319602, 13319611-13319618, 13319623, 13319626, 13319629-13319633, 13319657-13319659, 13319692-13319696, 13319712, 13319724-13319726, 13319769-13319780, 13320169-13320173, 13320185, 13338271-13338282, 13409414-13409415, 13409420-13409430, 13409453-13409731, 13409745, 13409748-13409755, 13409762-13409842, 13409871, 13409874-13409876, 13409892-13409894, 13409997, 13410006, 13410013, 13410087, 13616746-13617038 |
| 624 | NOTCH3 | 19 | 0.85902957220787 | 982 | 6966 | 15271519, 15271592-15271597, 15271600, 15271751-15271757, 15271862, 15271870-15271873, 15271890-15271899, 15271905-15271910, 15271914-15271927, 15271963-15271965, 15271983-15271991, 15271994, 15272033, 15272040-15272046, 15272090-15272119, 15272125-15272162, 15272170-15272273, 15272414, 15272490, 15272495, 15272498, 15273351, 15276273, 15276691, 15276694-15276695, 15276698, 15281153, 15281182-15281185, 15281197-15281204, 15281213, 15281217-15281223, 15281240-15281242, 15281248-15281253, 15281291-15281292, 15281296-15281301, 15281305-15281364, 15281486-15281490, 15281541-15281544, 15281550-15281556, 15284899-15284901, 15284905-15284910, 15284983-15284985, 15285006-15285036, 15285052, 15285080-15285087, 15285098-15285101, 15288336-15288347, 15288359-15288406, 15288467, 15288473, 15288486, 15288505, 15288508, 15288516, 15288519, 15288538-15288548, 15288567-15288901, 15289717, 15291839, 15291842, 15291846, 15291863-15291865, 15295751-15295753, 15296116, 15296134-15296146, 15298088, 15298125, 15299979-15299980, 15311599-15311716 |
| 625 | CYP4F22 | 19 | 0.99624060150376 | 6 | 1596 | 15636266-15636269, 15636346, 15662212 |
| 626 | JAK3 | 19 | 0.88088888888889 | 402 | 3375 | 17940917-17940966, 17940973-17940993, 17940999-17941009, 17941313-17941315, 17941319, 17941322-17941323, 17941327-17941389, 17941392-17941395, 17941413-17941418, 17941421, 17942177-17942178, 17942182-17942189, 17942196-17942209, 17942545, 17945489-17945501, 17949191-17949196, 17950371-17950405, 17952508, 17953143-17953146, 17953149, 17953183-17953186, 17953191, 17953204-17953208, 17953228-17953317, 17953328-17953362, 17953374-17953381, 17953841-17953845, 17953849-17953850, 17953858, 17953869, 17955129, 17955159, 17955162 |
| 627 | SLC5A5 | 19 | 0.93530020703934 | 125 | 1932 | 17983132, 17983247-17983285, 17983305-17983318, 17983366-17983378, 17984953-17984954, 17984958-17984963, 17984969-17984973, 17984978-17985002, 17985537-17985539, 17994514-17994516, 17994660-17994671, 17999165, 17999245 |
| 628 | IL12RB1 | 19 | 0.99748617395676 | 5 | 1989 | 18177461-18177464, 18177507 |
| 629 | COMP | 19 | 0.76956904133685 | 524 | 2274 | 18896324-18896325, 18896328, 18896483-18896518, 18896526-18896533, 18896542-18896543, 18896557-18896582, 18896786, 18898312, 18898425, 18899056-18899059, 18899064-18899068, 18899219-18899285, 18899303, 18899317-18899323, 18899401-18899538, 18899557-18899559, 18899982, 18899985-18899986, 18899989-18900001, 18900020-18900027, 18900751-18900923, 18901374-18901375, 18901659-18901666, 18901672, 18901679-18901691 |
| 630 | CEBPA | 19 | 0.20984215413185 | 851 | 1077 | 33792244, 33792287-33792290, 33792320-33792357, 33792439, 33792451, 33792455, 33792458, 33792506-33792508, 33792514-33792519, 33792526-33793320 |
| 631 | SCN1B | 19 | 0.94795539033457 | 42 | 807 | 35521725-35521764, 35524774, 35524778 |
| 632 | HAMP | 19 | 0.99607843137255 | 1 | 255 | 35773508 |
| 633 | MAG | 19 | 0.9638490164806 | 68 | 1881 | 35786728, 35790556-35790579, 35790616, 35790640-35790643, 35790650-35790653, 35790660, 35791052, 35791101, 35791120-35791130, 35791141-35791156, 35791160, 35791163, 35791223, 35793504 |
| 634 | COX6B1 | 19 | 0.97701149425287 | 6 | 261 | 36142233-36142238 |
| 635 | PRODH2 | 19 | 0.92985723153321 | 113 | 1611 | 36290994, 36293920, 36297332-36297346, 36297635-36297675, 36297713-36297719, 36297943-36297945, 36297951, 36297987-36297995, 36303098, 36303285-36303289, 36303296-36303308, 36303311-36303319, 36303323-36303324, 36303341-36303344, 36303351 |
| 636 | NPHS1 | 19 | 0.96081588835212 | 146 | 3726 | 36336317-36336318, 36336390-36336399, 36336581, 36336584-36336588, 36336594, 36336598, 36336612, 36336620-36336678, 36336692-36336697, 36337046, 36337064-36337066, 36337069, 36337072, 36337079-36337089, 36339013-36339039, 36339567-36339569, 36339574-36339575, 36339579-36339586, 36339599-36339601 |
| 637 | TYROBP | 19 | 0.9882005899705 | 4 | 339 | 36398360, 36398369, 36398372, 36398481 |
| 638 | SDHAF1 | 19 | 0.56034482758621 | 153 | 348 | 36486177-36486262, 36486273, 36486292, 36486314-36486328, 36486337-36486350, 36486369-36486377, 36486387-36486389, 36486407-36486418, 36486420, 36486428, 36486432-36486438, 36486445, 36486450-36486451 |
| 639 | WDR62 | 19 | 0.98993875765529 | 46 | 4572 | 36546012, 36562462-36562466, 36590507-36590513, 36591720, 36591724, 36592161-36592167, 36592566-36592569, 36593915, 36595802-36595803, 36595809, 36595819-36595826, 36595830, 36595845-36595848, 36595905, 36595918-36595919 |
| 640 | RYR1 | 19 | 0.92663888337633 | 1109 | 15117 | 38931385-38931391, 38931400-38931468, 38931478-38931504, 38939014, 38943468-38943473, 38943481, 38943484, 38943612-38943614, 38943623-38943625, 38943640, 38954156, 38955279-38955289, 38956803, 38956848, 38956852, 38956884-38956886, 38956901, 38964158, 38964354-38964360, 38968497, 38968504-38968507, 38969133, 38976230-38976235, 38976245-38976248, 38976254, 38976259, 38976263, 38976289, 38976298, 38976306-38976310, 38976329-38976372, 38976663-38976676, 38976679-38976717, 38976721-38976723, 38976726, 38976766-38976770, 38976774, 38985066-38985072, 38987511, 38987517, 38987525-38987526, 38990296-38990297, 38990300, 38990336, 38990345, 38990360-38990364, 38990371, 38990635-38990638, 38990641, 38990651-38990656, 38991250, 38993147-38993152, 38993155, 38993166-38993189, 38993195-38993203, 38993227-38993232, 38993235, 38993311-38993314, 38993330, 38993347-38993352, 38993363-38993364, 38993555, 38997474, 38997478, 38997483-38997485, 38998400-38998430, 38998438, 38998451-38998467, 39003003-39003014, 39003054-39003062, 39008204-39008213, 39008215, 39008224, 39008232-39008241, 39008307, 39009994-39010016, 39013684, 39014563, 39018351-39018352, 39018374, 39018378, 39034421, 39034424-39034427, 39037085-39037096, 39037106-39037113, 39037116, 39037119-39037131, 39037134, 39037145, 39037148, 39037156, 39037159-39037161, 39055603, 39055648-39055649, 39055729-39055733, 39055743-39056190, 39056207-39056216, 39056221-39056236, 39056257-39056312, 39056323, 39056369, 39056372-39056384, 39068676-39068682, 39075645, 39075652 |
| 641 | ACTN4 | 19 | 0.89400584795322 | 290 | 2736 | 39138422-39138434, 39138439-39138446, 39138457-39138463, 39138466, 39138472-39138547, 39208702, 39208706-39208708, 39208712, 39214581-39214611, 39214621, 39214624, 39214632, 39214635, 39214653-39214680, 39214843-39214879, 39214896-39214897, 39215131, 39215135, 39215147, 39216365-39216367, 39216428-39216439, 39216466-39216510, 39218623, 39219636-39219649 |
| 642 | DLL3 | 19 | 0.7108239095315 | 537 | 1857 | 39989637-39989638, 39989682-39989683, 39989841, 39989848, 39989857, 39989863, 39989868-39989869, 39993455-39993688, 39993695-39993697, 39997705, 39997709, 39997714-39997716, 39997725-39997735, 39997773, 39997794-39997957, 39997978-39997986, 39997991-39998023, 39998027, 39998057, 39998069, 39998076-39998081, 39998083, 39998088-39998110, 39998124-39998146, 39998158-39998168 |
| 643 | PRX | 19 | 0.93228454172367 | 297 | 4386 | 40899881-40899893, 40899904-40899905, 40899915-40899918, 40900492-40900493, 40900496, 40900663-40900709, 40900731-40900758, 40901225, 40901301, 40901304-40901328, 40901337-40901338, 40901540, 40903384-40903390, 40903410-40903435, 40903627-40903630, 40909613-40909672, 40909689-40909690, 40909694-40909701, 40909704-40909766 |
| 644 | TGFB1 | 19 | 0.81756180733163 | 214 | 1173 | 41837005-41837006, 41837010-41837018, 41837021-41837023, 41837045-41837055, 41837057, 41837060-41837068, 41837071-41837074, 41837082, 41838167, 41838170, 41838180, 41847902, 41847905, 41850717, 41850726-41850729, 41854226-41854261, 41858595-41858600, 41858656-41858658, 41858667-41858674, 41858706-41858758, 41858868-41858872, 41858875, 41858878, 41858892-41858893, 41858901-41858949 |
| 645 | BCKDHA | 19 | 0.94394618834081 | 75 | 1338 | 41903765-41903807, 41916554-41916555, 41916558-41916583, 41916586-41916587, 41929066, 41930453 |
| 646 | RPS19 | 19 | 0.99543378995434 | 2 | 438 | 42364876-42364877 |
| 647 | ATP1A3 | 19 | 0.90647090810223 | 344 | 3678 | 42470811, 42470945-42470970, 42470975-42470977, 42470996-42470997, 42471006-42471009, 42471019-42471022, 42471031-42471034, 42471048, 42471050-42471051, 42471080-42471083, 42471108, 42471118, 42471132-42471151, 42471167-42471206, 42471308-42471393, 42471409-42471415, 42471878, 42479889-42479897, 42480568-42480617, 42480624-42480635, 42480656-42480718, 42489335-42489337 |
| 648 | ETHE1 | 19 | 0.94771241830065 | 40 | 765 | 44012101, 44012107, 44012155, 44012182, 44012185-44012186, 44012196-44012198, 44012203-44012204, 44031252-44031259, 44031264-44031274, 44031278-44031287 |
| 649 | BCAM | 19 | 0.88076311605723 | 225 | 1887 | 45312384-45312450, 45312461-45312463, 45314505, 45315436, 45321855-45321862, 45322123-45322131, 45322137-45322139, 45322400, 45322403, 45322431-45322432, 45322958-45322962, 45323962-45324079, 45324173-45324178 |
| 650 | APOE | 19 | 0.62788259958071 | 355 | 954 | 45411062-45411070, 45411080-45411098, 45411793-45411797, 45411800, 45411835-45411847, 45411874-45411907, 45411925-45411926, 45411928-45411933, 45411941-45411945, 45411950, 45411959-45411971, 45411976, 45411989-45411993, 45411999-45412001, 45412004, 45412013-45412014, 45412038-45412077, 45412093-45412117, 45412128-45412177, 45412192, 45412195-45412207, 45412226, 45412229-45412253, 45412255, 45412264-45412274, 45412290, 45412322-45412325, 45412339, 45412349-45412354, 45412377-45412384, 45412426, 45412429-45412431, 45412464-45412507 |
| 651 | BLOC1S3 | 19 | 0.41871921182266 | 354 | 609 | 45682581-45682586, 45682611, 45682623, 45682628-45682629, 45682636-45682639, 45682642, 45682686-45682688, 45682691, 45682694-45682695, 45682698-45682704, 45682726-45682759, 45682778, 45682782-45682783, 45682797-45682800, 45682820-45683104 |
| 652 | ERCC2 | 19 | 0.94524748138414 | 125 | 2283 | 45855588, 45867001-45867008, 45867029-45867034, 45867053-45867062, 45867099-45867103, 45867107-45867119, 45867143-45867169, 45867259, 45867264-45867265, 45867283-45867295, 45867303-45867306, 45867314-45867323, 45867334-45867352, 45867368-45867369, 45867376-45867377, 45867581-45867582 |
| 653 | OPA3 | 19 | 0.93001841620626 | 38 | 543 | 46032381, 46032392-46032394, 46032406-46032407, 46032517-46032541, 46087926-46087929, 46087936, 46087939, 46087942 |
| 654 | SIX5 | 19 | 0.69234234234234 | 683 | 2220 | 46268965-46268987, 46269104-46269107, 46269313-46269314, 46269639, 46269643, 46269724-46269730, 46269740-46269744, 46269944-46269959, 46270122-46270131, 46270134-46270143, 46270145-46270146, 46270150-46270159, 46270177-46270186, 46271307-46271350, 46271391, 46271401, 46271437-46271442, 46271451-46271465, 46271470-46271476, 46271532-46271543, 46271550-46271594, 46271597, 46271600-46271607, 46271612, 46271617-46271618, 46271642, 46271665-46272102 |
| 655 | DMPK | 19 | 0.87671957671958 | 233 | 1890 | 46273746-46273767, 46273779-46273823, 46273852-46273856, 46273872-46273873, 46274266, 46274269-46274270, 46274285-46274286, 46274289, 46274299, 46280778, 46281443, 46281447-46281449, 46285459-46285481, 46285487-46285610 |
| 656 | FKRP | 19 | 0.51075268817204 | 728 | 1488 | 47258708-47258709, 47258719, 47258813-47258814, 47258817-47258827, 47258833-47258834, 47258838-47258839, 47258842, 47258879, 47259003, 47259030, 47259052-47259054, 47259073-47259541, 47259547-47259550, 47259556, 47259590-47259660, 47259662, 47259667-47259671, 47259674-47259689, 47259700-47259703, 47259722-47259768, 47259785-47259787, 47259799-47259802, 47259810-47259815, 47260011, 47260020-47260022, 47260067, 47260073-47260075, 47260078-47260080, 47260106, 47260116-47260118, 47260124-47260129, 47260138-47260141, 47260151-47260195 |
| 657 | CRX | 19 | 0.99 | 9 | 900 | 48342638-48342643, 48342655, 48342658, 48342665 |
| 658 | DBP | 19 | 0.60020449897751 | 391 | 978 | 49138837-49139157, 49139175-49139183, 49139196, 49139204-49139214, 49139227-49139233, 49139238, 49139245-49139247, 49140182-49140195, 49140205-49140215, 49140221, 49140226-49140233, 49140236, 49140240-49140242 |
| 659 | BCAT2 | 19 | 0.93723494486853 | 74 | 1179 | 49303070-49303073, 49303238-49303240, 49303444-49303471, 49303487-49303501, 49314241-49314264 |
| 660 | FTL | 19 | 0.95833333333333 | 22 | 528 | 49468796-49468817 |
| 661 | GYS1 | 19 | 0.99548328816622 | 10 | 2214 | 49472671-49472674, 49472758, 49472761-49472763, 49489199, 49489202 |
| 662 | MED25 | 19 | 0.88859180035651 | 250 | 2244 | 50321604, 50321613, 50321619-50321622, 50321630-50321633, 50321862-50321873, 50322429-50322430, 50333171-50333173, 50333185, 50333197, 50333201, 50333430, 50333440-50333441, 50333773-50333785, 50333788-50333789, 50333807-50333814, 50333825-50333826, 50333855, 50334037, 50334041-50334049, 50334060-50334064, 50334068, 50334072-50334080, 50334104-50334110, 50334119-50334121, 50334128-50334136, 50335408-50335414, 50338413-50338418, 50338825-50338857, 50339043-50339050, 50339054-50339058, 50339167-50339179, 50339495-50339523, 50339531-50339567, 50340129-50340137 |
| 663 | PNKP | 19 | 0.8544061302682 | 228 | 1566 | 50364512-50364524, 50364537-50364540, 50364882, 50364887, 50364923-50364952, 50365045-50365052, 50365091-50365136, 50365360-50365362, 50365478-50365503, 50365628-50365641, 50365830, 50365843-50365865, 50365947-50365963, 50367001-50367007, 50370346-50370376, 50370397, 50370423-50370424 |
| 664 | MYH14 | 19 | 0.95041728031419 | 303 | 6111 | 50713647-50713675, 50713687, 50713691-50713695, 50713698-50713713, 50713717-50713721, 50713731-50713749, 50713780, 50713941-50713942, 50713948-50713950, 50713954-50713958, 50713962-50713963, 50713969-50713970, 50714022-50714025, 50728847, 50728889-50728895, 50733783-50733792, 50735240, 50747512, 50747515, 50753876-50753878, 50753883, 50753886-50753894, 50762416-50762418, 50764732-50764754, 50764762-50764765, 50764806, 50764814, 50764829, 50766586-50766589, 50766623, 50770181, 50770218-50770246, 50770256-50770263, 50775945-50775951, 50779304-50779305, 50779308, 50779425, 50780095, 50780111, 50780134-50780142, 50781452-50781453, 50781459, 50781470, 50781535-50781546, 50784860, 50784866, 50784916-50784919, 50784927-50784935, 50785040, 50785051-50785058, 50789903-50789907, 50789917-50789926, 50795641, 50804991, 50812901-50812903, 50812920-50812933, 50812958-50812959, 50812962 |
| 665 | KCNC3 | 19 | 0.47185576077397 | 1201 | 2274 | 50823503-50823606, 50823866-50823889, 50823905, 50823929, 50824005-50824011, 50826288-50826290, 50826294-50826302, 50826318-50826337, 50826342, 50826347-50826352, 50826357, 50826360-50826363, 50826366-50826367, 50826383, 50826398-50826419, 50826422-50826433, 50826436-50826437, 50826449-50826480, 50826488-50826512, 50826543-50826544, 50826547-50826548, 50826551-50826561, 50826564, 50826654, 50826658-50826660, 50826766, 50826886-50826918, 50831470-50832339 |
| 666 | KLK4 | 19 | 0.88366013071895 | 89 | 765 | 51410249-51410250, 51412004-51412010, 51412525-51412541, 51412545, 51412551, 51412571-51412573, 51412599-51412638, 51412653-51412670 |
| 667 | ETFB | 19 | 0.93852065321806 | 64 | 1041 | 51850310, 51856396-51856409, 51856438-51856444, 51857404-51857421, 51857427-51857450 |
| 668 | NLRP12 | 19 | 0.97143753923415 | 91 | 3186 | 54301543-54301544, 54301652-54301667, 54313093, 54313096, 54313211-54313217, 54313591, 54313597-54313601, 54313611-54313624, 54313631-54313637, 54313658-54313682, 54314389, 54314394, 54314405-54314410, 54314420-54314423 |
| 669 | PRKCG | 19 | 0.8352435530086 | 345 | 2094 | 54385749-54385913, 54392916, 54392934-54392938, 54392951, 54392956-54392958, 54392961-54392962, 54392979-54393003, 54393140-54393271, 54401708, 54401816, 54409974, 54410002-54410009 |
| 670 | PRPF31 | 19 | 0.99 | 15 | 1500 | 54627148, 54627158, 54627883-54627892, 54627932, 54628030, 54631572 |
| 671 | TSEN34 | 19 | 0.86816720257235 | 123 | 933 | 54695233-54695240, 54695248-54695253, 54695256, 54695259-54695267, 54695275-54695280, 54695285, 54695288, 54695299, 54695303, 54695308-54695309, 54695315, 54695326-54695330, 54695338-54695396, 54695408-54695409, 54695572-54695577, 54695744-54695747, 54695760, 54696066-54696074 |
| 672 | NLRP7 | 19 | 0.98972382787412 | 32 | 3114 | 55450837, 55450937-55450964, 55450971, 55451232, 55451649 |
| 673 | TNNT1 | 19 | 0.84283903675539 | 124 | 789 | 55644308, 55648471-55648477, 55648545, 55648548, 55648553, 55648563-55648571, 55652251, 55652286-55652289, 55652294, 55652297-55652309, 55652320-55652328, 55652654, 55657802-55657834, 55658049-55658075, 55658376-55658389, 55658494 |
| 674 | TNNI3 | 19 | 0.84072249589491 | 97 | 609 | 55667569-55667614, 55667619-55667625, 55667665, 55667674, 55667678, 55667682, 55667685-55667697, 55667975-55667978, 55667988-55667994, 55668005-55668012, 55668419-55668421, 55668427-55668430, 55668433 |
| 675 | AURKC | 19 | 0.9989247311828 | 1 | 930 | 57746750 |
| 676 | TPO | 2 | 0.91256245538901 | 245 | 2802 | 1480858-1480862, 1480880, 1480886-1480901, 1480926-1480927, 1480930, 1480937-1480938, 1480943-1480947, 1480975-1481057, 1481070-1481073, 1481075-1481076, 1481079-1481087, 1481092-1481094, 1481097-1481102, 1481108-1481113, 1481119-1481120, 1481123-1481134, 1481140, 1481145-1481150, 1481154-1481155, 1481175, 1481178-1481180, 1481183, 1481189-1481198, 1481218-1481222, 1481231-1481234, 1481291-1481293, 1481355-1481376, 1488518-1488543, 1497604-1497605 |
| 677 | RPS7 | 2 | 0.93504273504274 | 38 | 585 | 3623203-3623226, 3623236-3623246, 3623266-3623267, 3623270 |
| 678 | KLF11 | 2 | 0.97141000649773 | 44 | 1539 | 10183844-10183885, 10188206, 10188209 |
| 679 | LPIN1 | 2 | 0.98054620276842 | 52 | 2673 | 11911759-11911761, 11911769, 11911787-11911791, 11911796-11911801, 11922529-11922545, 11955319, 11955322-11955323, 11955326-11955333, 11955340-11955348 |
| 680 | MYCN | 2 | 0.65663082437276 | 479 | 1395 | 16082187-16082220, 16082304, 16082310, 16082317-16082320, 16082325, 16082373-16082386, 16082396-16082401, 16082405-16082421, 16082463, 16082473-16082492, 16082495-16082500, 16082546-16082909, 16082922-16082931 |
| 681 | MATN3 | 2 | 0.86789869952088 | 193 | 1461 | 20212175-20212184, 20212205-20212275, 20212281-20212392 |
| 682 | APOB | 2 | 0.99276950043821 | 99 | 13692 | 21230469, 21247805-21247806, 21247820, 21255239, 21255266-21255270, 21255289-21255292, 21255301-21255303, 21266736-21266817 |
| 683 | POMC | 2 | 0.73258706467662 | 215 | 804 | 25384140-25384146, 25384151-25384160, 25384169-25384179, 25384185, 25384191, 25384196-25384210, 25384213-25384223, 25384265-25384267, 25384310-25384311, 25384342-25384373, 25384385-25384495, 25384578-25384579, 25384582, 25384590-25384593, 25384597-25384599, 25387638 |
| 684 | HADHA | 2 | 0.97294938917976 | 62 | 2292 | 26416476-26416522, 26453152-26453157, 26467425-26467433 |
| 685 | HADHB | 2 | 0.99649122807018 | 5 | 1425 | 26499978, 26508303-26508304, 26508307, 26508370 |
| 686 | OTOF | 2 | 0.94394394394394 | 336 | 5994 | 26684781-26684784, 26690301-26690304, 26695388, 26696876, 26696942-26696945, 26696954-26696960, 26696969, 26697381-26697404, 26697410-26697413, 26697418-26697420, 26697427-26697432, 26697478-26697482, 26697485, 26697499, 26697512-26697542, 26699043-26699048, 26699168-26699180, 26699759-26699911, 26700043, 26700048-26700057, 26700062-26700065, 26700086-26700109, 26700115-26700133, 26700144-26700146, 26750763-26750766, 26750773, 26750778 |
| 687 | EIF2B4 | 2 | 0.99448529411765 | 9 | 1632 | 27592304, 27592858-27592865 |
| 688 | C2orf71 | 2 | 0.9793121282648 | 80 | 3867 | 29287852, 29287924-29287926, 29293642, 29293645, 29293648-29293652, 29293669-29293684, 29293865, 29293913, 29294038-29294044, 29294053-29294070, 29294097-29294107, 29294485-29294496, 29296480, 29296571-29296572 |
| 689 | ALK | 2 | 0.97984783055727 | 98 | 4863 | 29446209-29446210, 29446223-29446225, 29451760-29451765, 29451776-29451785, 29451793-29451794, 29754866, 29754872, 29754882-29754889, 29754917, 30143210-30143213, 30143237, 30143410-30143428, 30143434-30143448, 30143461-30143470, 30143493-30143499, 30143518-30143525 |
| 690 | XDH | 2 | 0.99950024987506 | 2 | 4002 | 31609369-31609370 |
| 691 | SRD5A2 | 2 | 0.90288713910761 | 74 | 762 | 31805765, 31805777, 31805825-31805833, 31805839, 31805847-31805850, 31805859, 31805862-31805867, 31805889-31805890, 31805906, 31805909-31805915, 31805920-31805953, 31805959-31805965 |
| 692 | SPAST | 2 | 0.7882225823879 | 392 | 1851 | 32288901, 32288923-32288984, 32288991-32289315, 32312621, 32353516-32353518 |
| 693 | CYP1B1 | 2 | 0.8155637254902 | 301 | 1632 | 38301511-38301514, 38301517, 38301523, 38301528-38301548, 38301681, 38301834-38301835, 38301902-38301903, 38301964-38301969, 38301974-38302029, 38302034-38302044, 38302049-38302050, 38302053-38302058, 38302067-38302070, 38302092-38302094, 38302099, 38302107, 38302117-38302128, 38302157-38302185, 38302191-38302193, 38302196-38302210, 38302234, 38302238, 38302285-38302309, 38302320-38302341, 38302348-38302384, 38302391-38302424 |
| 694 | SOS1 | 2 | 0.98650674662669 | 54 | 4002 | 39222423-39222452, 39222503-39222514, 39239431-39239432, 39241037-39241040, 39241045, 39278300, 39294820-39294823 |
| 695 | ABCG5 | 2 | 0.96574642126789 | 67 | 1956 | 44055148, 44058912, 44058920, 44058946-44058960, 44058979-44058989, 44058993-44059005, 44059101-44059106, 44059124-44059127, 44059193-44059195, 44059201-44059202, 44059204-44059210, 44059220-44059222 |
| 696 | ABCG8 | 2 | 0.99802176063304 | 4 | 2022 | 44102366-44102367, 44102378-44102379 |
| 697 | LRPPRC | 2 | 0.98709677419355 | 54 | 4185 | 44202334-44202336, 44209465, 44209477, 44222938-44222943, 44222949-44222955, 44222984, 44222987-44222991, 44222997, 44223026-44223050, 44223072-44223075 |
| 698 | SIX3 | 2 | 0.65465465465465 | 345 | 999 | 45169304-45169381, 45169383, 45169387, 45169391, 45169410-45169468, 45169503, 45169507-45169509, 45169518-45169519, 45169522-45169523, 45169525, 45169527, 45169533-45169538, 45169540-45169545, 45169555-45169560, 45169562-45169571, 45169582-45169586, 45169601-45169610, 45169616-45169658, 45169675, 45169703-45169704, 45169773-45169802, 45169814-45169830, 45170033-45170039, 45171733, 45171739-45171748, 45171755-45171757, 45171767, 45171770-45171792, 45171797-45171799, 45171809-45171816, 45171831, 45171838, 45171842 |
| 699 | EPCAM | 2 | 0.95555555555556 | 42 | 945 | 47596645-47596647, 47596653-47596654, 47596661-47596662, 47596673-47596705, 47601088, 47601106 |
| 700 | MSH2 | 2 | 0.97397504456328 | 73 | 2805 | 47630446-47630453, 47630461-47630497, 47630506-47630526, 47639604, 47639607, 47639653, 47641417, 47702305, 47702400, 47710019 |
| 701 | MSH6 | 2 | 0.93632133235366 | 260 | 4083 | 48010373-48010632 |
| 702 | LHCGR | 2 | 0.98428571428571 | 33 | 2100 | 48982651, 48982667-48982668, 48982676-48982679, 48982682-48982688, 48982755-48982758, 48982761, 48982763-48982776 |
| 703 | NRXN1 | 2 | 0.90915254237288 | 402 | 4425 | 50149314-50149353, 50765555, 50765558-50765565, 50765571-50765572, 51254651-51254668, 51254720-51254723, 51254751-51254752, 51254761-51254771, 51254776-51254792, 51254798-51254807, 51254866-51254867, 51254870, 51254901-51254961, 51254991, 51255017, 51255023-51255024, 51255032-51255034, 51255060-51255062, 51255065-51255066, 51255074, 51255079-51255080, 51255094, 51255115-51255164, 51255170-51255202, 51255222, 51255234-51255277, 51255284-51255315, 51255320-51255323, 51255333-51255342, 51255353-51255374, 51255378-51255382, 51255404-51255411 |
| 704 | EFEMP1 | 2 | 0.97503373819163 | 37 | 1482 | 56102098-56102103, 56102108-56102116, 56102125-56102129, 56102143, 56102153-56102154, 56102165-56102170, 56102177, 56102181, 56102193-56102196, 56103877, 56144994 |
| 705 | FANCL | 2 | 0.98847517730496 | 13 | 1128 | 58392892-58392904 |
| 706 | ATP6V1B1 | 2 | 0.96757457846952 | 50 | 1542 | 71163085-71163098, 71163107-71163108, 71163111-71163115, 71163120-71163126, 71170821, 71187190-71187196, 71187201-71187208, 71188051, 71188054, 71188059, 71191891, 71191894, 71191901 |
| 707 | MCEE | 2 | 0.98681732580038 | 7 | 531 | 71337182-71337188 |
| 708 | DYSF | 2 | 0.99811320754717 | 12 | 6360 | 71693973-71693976, 71693983, 71693986, 71753426-71753430, 71753448 |
| 709 | SPR | 2 | 0.69592875318066 | 239 | 786 | 73114562-73114728, 73114758-73114767, 73114778-73114821, 73114825-73114830, 73114834-73114839, 73114849-73114854 |
| 710 | ALMS1 | 2 | 0.98880358285349 | 140 | 12504 | 73612997-73613012, 73613020-73613022, 73613025-73613047, 73613062, 73613065-73613069, 73613080-73613105, 73613142, 73613146-73613149, 73613152, 73613169, 73613172, 73613198-73613199, 73613242-73613272, 73613293, 73675844, 73676024, 73676610-73676613, 73677029, 73677297-73677300, 73747022, 73786106-73786108, 73786241, 73827996-73828002, 73828342 |
| 711 | SLC4A5 | 2 | 0.99033391915641 | 33 | 3414 | 74460581, 74460602-74460604, 74479494, 74491370, 74513011-74513029, 74531616-74531623 |
| 712 | DCTN1 | 2 | 0.9913995308835 | 33 | 3837 | 74588676, 74588679, 74590529-74590532, 74593665, 74598130-74598132, 74598769, 74598773-74598780, 74598782-74598787, 74598790-74598796, 74605353 |
| 713 | MOGS | 2 | 0.97175815433572 | 71 | 2514 | 74689082-74689086, 74692100, 74692103, 74692109, 74692125, 74692130, 74692139-74692148, 74692152, 74692163-74692164, 74692167-74692178, 74692182, 74692188, 74692266-74692270, 74692274, 74692297, 74692311, 74692314, 74692325-74692329, 74692347-74692362, 74692368-74692371 |
| 714 | HTRA2 | 2 | 0.7683369644154 | 319 | 1377 | 74757134-74757146, 74757181-74757210, 74757225-74757231, 74757240-74757258, 74757266-74757273, 74757286-74757287, 74757294-74757322, 74757335-74757336, 74757349-74757484, 74757506, 74757514-74757519, 74757525-74757539, 74757542-74757551, 74760041-74760081 |
| 715 | SUCLG1 | 2 | 0.93371757925072 | 69 | 1041 | 84660521-84660530, 84668420-84668425, 84668430-84668441, 84686306-84686346 |
| 716 | GGCX | 2 | 0.99033816425121 | 22 | 2277 | 85780536, 85781412-85781413, 85785684, 85788002, 85788509-85788512, 85788519-85788531 |
| 717 | SFTPB | 2 | 0.98603839441536 | 16 | 1146 | 85892790-85892795, 85895264-85895266, 85895269-85895275 |
| 718 | REEP1 | 2 | 0.94224422442244 | 35 | 606 | 86481872-86481874, 86564602-86564633 |
| 719 | EIF2AK3 | 2 | 0.95732617129215 | 143 | 3351 | 88926551, 88926562-88926563, 88926568-88926580, 88926584-88926585, 88926588, 88926603-88926651, 88926655-88926656, 88926662-88926666, 88926673-88926684, 88926687-88926713, 88926733-88926746, 88926749-88926750, 88926754-88926755, 88926768, 88926773-88926779, 88926790-88926792 |
| 720 | RPIA | 2 | 0.99145299145299 | 8 | 936 | 88991238, 88991250, 88991253-88991256, 88991269-88991270 |
| 721 | TMEM127 | 2 | 0.74616457461646 | 182 | 717 | 96930876-96930922, 96930927-96930929, 96930932-96930937, 96930967-96931001, 96931008-96931023, 96931033-96931064, 96931077-96931119 |
| 722 | SNRNP200 | 2 | 0.99797223522071 | 13 | 6411 | 96955082-96955094 |
| 723 | ZAP70 | 2 | 0.9252688172043 | 139 | 1860 | 98340510, 98340520, 98340621-98340654, 98340714-98340723, 98340740, 98340751, 98340809-98340861, 98340874-98340901, 98341656, 98349771, 98351150, 98354041-98354043, 98354068, 98354076, 98354232, 98355839 |
| 724 | RANBP2 | 2 | 0.97488372093023 | 243 | 9675 | 109336063-109336082, 109336134, 109347799-109347800, 109347856, 109352625-109352638, 109357110-109357116, 109363179-109363213, 109363251-109363254, 109367868-109367874, 109371366-109371373, 109378557-109378567, 109378622, 109382700-109382706, 109382787-109382793, 109383268-109383301, 109383701-109383708, 109383903-109383946, 109384628-109384634, 109397760-109397762, 109397766-109397774, 109398691-109398703 |
| 725 | NPHP1 | 2 | 0.99950835791544 | 1 | 2034 | 110962505 |
| 726 | MERTK | 2 | 0.97633333333333 | 71 | 3000 | 112656313-112656373, 112740551, 112786289-112786296, 112786309 |
| 727 | PAX8 | 2 | 0.99926090169993 | 1 | 1353 | 113999683 |
| 728 | GLI2 | 2 | 0.80886368409998 | 910 | 4761 | 121554901-121554908, 121554918-121554924, 121554927, 121554934, 121555017-121555019, 121555023-121555034, 121708961, 121712941-121712945, 121712950, 121726293-121726294, 121726306, 121726310-121726317, 121726334-121726342, 121726367-121726368, 121726479, 121728009-121728010, 121728013-121728019, 121728028-121728031, 121728114, 121729590-121729599, 121729619-121729627, 121729629, 121729632, 121729635-121729637, 121742251, 121745824-121745826, 121745832, 121745837-121745838, 121745843, 121745848-121745869, 121745883-121745889, 121745961-121745996, 121746020-121746032, 121746036, 121746039-121746050, 121746053, 121746080-121746556, 121746565-121746570, 121746576, 121746579-121746580, 121746645-121746721, 121746788-121746843, 121746854-121746861, 121746879, 121746900, 121746942-121746943, 121746950, 121746956, 121746969-121746970, 121747053-121747058, 121747066, 121747083-121747118, 121747182-121747192, 121747255, 121747374-121747380, 121747397, 121747410-121747413, 121747456, 121747779-121747785 |
| 729 | BIN1 | 2 | 0.9618406285073 | 68 | 1782 | 127808394-127808397, 127808400, 127808408-127808411, 127808483-127808487, 127808730-127808736, 127808774-127808781, 127809843, 127811586-127811588, 127816623-127816629, 127816636-127816640, 127864436-127864455, 127864517-127864519 |
| 730 | PROC | 2 | 0.83189033189033 | 233 | 1386 | 128178898-128178899, 128178902, 128178905, 128178910, 128180493-128180517, 128180610-128180747, 128180852-128180853, 128180866-128180869, 128180872, 128180895-128180952 |
| 731 | CFC1 | 2 | 0.59077380952381 | 275 | 672 | 131279058-131279080, 131279644-131279653, 131279676, 131279681, 131279687-131279688, 131280363-131280477, 131280742-131280768, 131280800-131280846, 131285286-131285328, 131285380-131285382, 131285401, 131285428, 131285441 |
| 732 | RAB3GAP1 | 2 | 0.99864222674813 | 4 | 2946 | 135815597-135815598, 135878466, 135884203 |
| 733 | LCT | 2 | 0.99948132780083 | 3 | 5784 | 136567446, 136575584-136575585 |
| 734 | MCM6 | 2 | 0.9728304947283 | 67 | 2466 | 136602160, 136608983-136608984, 136615468, 136615479, 136616938-136616947, 136616952-136616954, 136633873-136633921 |
| 735 | ZEB2 | 2 | 0.97969821673525 | 74 | 3645 | 145147387, 145274845-145274917 |
| 736 | MMADHC | 2 | 0.99887766554433 | 1 | 891 | 150436052 |
| 737 | NEB | 2 | 0.994993491539 | 100 | 19974 | 152382702, 152382710, 152390763-152390770, 152404894-152404897, 152417745-152417746, 152419181, 152419186, 152419195, 152423868, 152423871-152423872, 152432697-152432727, 152432740-152432743, 152432748, 152432785-152432807, 152432819, 152432851-152432857, 152432860-152432868, 152474859, 152553963 |
| 738 | CACNB4 | 2 | 0.96737044145873 | 51 | 1563 | 152954922-152954927, 152955469-152955498, 152955511-152955525 |
| 739 | SCN2A | 2 | 0.97607178464606 | 144 | 6018 | 166171989-166172009, 166172013, 166172018-166172020, 166172223-166172226, 166187925-166187931, 166188052, 166188059, 166188064, 166201203-166201205, 166210827, 166211056-166211078, 166211144-166211155, 166223816-166223817, 166223820, 166223824, 166223844, 166234145-166234149, 166237217-166237239, 166237612, 166237624, 166237655, 166237658, 166237682, 166237685-166237691, 166237701-166237704, 166245230, 166245681-166245696 |
| 740 | GALNT3 | 2 | 0.99842271293375 | 3 | 1902 | 166611236-166611237, 166621540 |
| 741 | SCN1A | 2 | 0.98966149741537 | 62 | 5997 | 166848763-166848766, 166848790-166848809, 166848838-166848844, 166903452-166903481, 166909426 |
| 742 | SCN9A | 2 | 0.9912369396697 | 52 | 5934 | 167060923, 167060926-167060928, 167083161-167083171, 167085411-167085421, 167089856, 167089866-167089871, 167089883-167089886, 167089946, 167089960-167089964, 167089971-167089972, 167133595, 167141103, 167141108-167141112 |
| 743 | ABCB11 | 2 | 0.99899142713061 | 4 | 3966 | 169789016, 169851942-169851944 |
| 744 | SLC25A12 | 2 | 0.99165439371625 | 17 | 2037 | 172644397, 172644423, 172683339-172683342, 172683350-172683353, 172683361-172683365, 172750715-172750716 |
| 745 | ITGA6 | 2 | 0.94047619047619 | 195 | 3276 | 173292517-173292698, 173338872-173338884 |
| 746 | CHN1 | 2 | 0.98623188405797 | 19 | 1380 | 175869622-175869640 |
| 747 | HOXD13 | 2 | 0.67538759689922 | 335 | 1032 | 176957619-176957855, 176957871-176957880, 176957891-176957895, 176957905-176957923, 176957940-176957977, 176957983, 176957987-176957989, 176958046-176958047, 176958058-176958069, 176958272-176958279 |
| 748 | AGPS | 2 | 0.90490642387456 | 188 | 1977 | 178257554-178257567, 178257591-178257609, 178257614-178257616, 178257631-178257636, 178257648, 178301551-178301554, 178301557, 178301566, 178346788-178346791, 178346814-178346820, 178346830-178346850, 178346859-178346898, 178362417-178362438, 178362447-178362491 |
| 749 | PRKRA | 2 | 0.90021231422505 | 94 | 942 | 179306386-179306402, 179312277-179312280, 179312286-179312293, 179315693-179315757 |
| 750 | TTN | 2 | 0.99879299337643 | 121 | 100248 | 179392348-179392359, 179392375, 179404844, 179406154, 179412743-179412744, 179422752, 179425462, 179425477, 179425481, 179425489-179425494, 179431458-179431461, 179443972, 179447817-179447819, 179468889-179468893, 179477677-179477679, 179479228, 179490115, 179490121-179490123, 179502115, 179502125-179502126, 179502134-179502137, 179514895-179514904, 179516648, 179523752-179523759, 179542349, 179575861-179575864, 179580247, 179582307, 179583899, 179597385-179597386, 179597444, 179597712-179597713, 179598051-179598053, 179598570, 179634479, 179644035, 179648504-179648507, 179659155, 179659680-179659698, 179665141-179665143, 179666885 |
| 751 | CERKL | 2 | 0.93621013133208 | 102 | 1599 | 182403991, 182423326, 182521496-182521503, 182521517-182521545, 182521575-182521588, 182521608-182521627, 182521654-182521682 |
| 752 | NEUROD1 | 2 | 0.97292250233427 | 29 | 1071 | 182542607, 182542610, 182542834, 182542838-182542839, 182542941-182542963, 182543213 |
| 753 | COL3A1 | 2 | 0.95137468757101 | 214 | 4401 | 189850432-189850438, 189850444-189850473, 189854122-189854154, 189856415-189856448, 189860424-189860471, 189860494, 189860497-189860500, 189860857-189860862, 189861188, 189861191-189861193, 189863433-189863436, 189869014-189869015, 189870107, 189871663-189871668, 189871671, 189871677-189871682, 189871691, 189872237-189872239, 189872268, 189872271-189872275, 189872611-189872627 |
| 754 | COL5A2 | 2 | 0.99177777777778 | 37 | 4500 | 189899813, 189909950-189909952, 189910555-189910559, 189910573, 189910578, 189914123, 189916078-189916081, 189916181-189916187, 189916898, 189916901-189916907, 189918172-189918174, 189932778, 189932831, 189962020 |
| 755 | SLC40A1 | 2 | 0.99825174825175 | 3 | 1716 | 190436524-190436526 |
| 756 | PMS1 | 2 | 0.98320828867453 | 47 | 2799 | 190656643-190656646, 190718795, 190718972-190718979, 190719106, 190719112, 190719119-190719121, 190719125-190719126, 190719170, 190719174, 190728721-190728745 |
| 757 | STAT1 | 2 | 0.96138482023968 | 87 | 2253 | 191843647-191843678, 191848409-191848413, 191855996, 191859787-191859800, 191859823-191859824, 191859830, 191859848-191859850, 191859859-191859862, 191859886-191859895, 191859899-191859913 |
| 758 | HSPD1 | 2 | 0.99941927990708 | 1 | 1722 | 198351804 |
| 759 | CASP10 | 2 | 0.9987253027406 | 2 | 1569 | 202050671, 202050677 |
| 760 | CASP8 | 2 | 0.99876314162028 | 2 | 1617 | 202137494-202137495 |
| 761 | ALS2 | 2 | 0.99718536389224 | 14 | 4974 | 202572678, 202575821, 202593336, 202593339-202593343, 202622156, 202622409-202622411, 202626358, 202626369 |
| 762 | BMPR2 | 2 | 0.99647096567212 | 11 | 3117 | 203242250-203242253, 203242261-203242266, 203332317 |
| 763 | ICOS | 2 | 0.99666666666667 | 2 | 600 | 204822605-204822606 |
| 764 | NDUFS1 | 2 | 0.98672161172161 | 29 | 2184 | 206988957, 206991310-206991329, 206992538, 206992596-206992599, 207012521, 207018351, 207018385 |
| 765 | FASTKD2 | 2 | 0.99109235818097 | 19 | 2133 | 207652742-207652747, 207652755-207652765, 207652772, 207652787 |
| 766 | ACADL | 2 | 0.98298530549111 | 22 | 1293 | 211057584, 211089911-211089919, 211089930-211089941 |
| 767 | CPS1 | 2 | 0.99888962913613 | 5 | 4503 | 211455625-211455626, 211464253, 211464256, 211540503 |
| 768 | ABCA12 | 2 | 0.99409347714432 | 46 | 7788 | 215797408-215797409, 215797438, 215797443, 215809798, 215809805, 215809818, 215812175-215812178, 215812183-215812187, 215813815-215813818, 215846911-215846920, 215854074-215854075, 215854081, 215854084-215854085, 215854284, 215854287-215854288, 215901724, 215901771-215901777 |
| 769 | SMARCAL1 | 2 | 0.98987783595113 | 29 | 2865 | 217285114-217285115, 217285120, 217315613, 217315617-217315620, 217347544-217347558, 217347564-217347569 |
| 770 | PNKD | 2 | 0.9853195164076 | 17 | 1158 | 219204547, 219204568-219204577, 219204593-219204594, 219204596-219204597, 219204754, 219209623 |
| 771 | BCS1L | 2 | 0.99920634920635 | 1 | 1260 | 219527320 |
| 772 | CYP27A1 | 2 | 0.97994987468672 | 32 | 1596 | 219646920-219646926, 219646933-219646948, 219646951, 219646954-219646956, 219646964, 219647004-219647007 |
| 773 | WNT10A | 2 | 0.77113237639553 | 287 | 1254 | 219745727-219745825, 219757500-219757504, 219757508, 219757512-219757515, 219757549-219757560, 219757599, 219757603-219757609, 219757612-219757615, 219757618, 219757624-219757628, 219757645-219757649, 219757660-219757665, 219757668-219757677, 219757680, 219757684, 219757688-219757701, 219757712-219757723, 219757733-219757771, 219757830-219757845, 219757852-219757859, 219757868-219757873, 219757878-219757879, 219757885-219757890, 219757893, 219757897-219757907, 219757911-219757915, 219757982-219757986 |
| 774 | DES | 2 | 0.84571832979476 | 218 | 1413 | 220283225, 220283231-220283232, 220283235, 220283239-220283294, 220283332, 220283335, 220283357-220283400, 220283403, 220283412-220283427, 220283431, 220283435-220283451, 220283580-220283613, 220283620, 220283632, 220283636-220283637, 220283643-220283644, 220283702-220283737, 220284864 |
| 775 | OBSL1 | 2 | 0.77684062554911 | 1270 | 5691 | 220416253, 220416267-220416356, 220416364-220416368, 220416393-220416407, 220416410-220416415, 220416418-220416423, 220416431-220416433, 220416438-220416447, 220416457-220416502, 220416841-220416842, 220416860, 220416868-220416874, 220416884-220416890, 220416899-220416919, 220417260-220417419, 220417590-220417658, 220417671-220417690, 220417716-220417726, 220417732-220417738, 220417744-220417746, 220419439-220419441, 220420785, 220420883-220420888, 220420895-220420902, 220420913, 220421302-220421308, 220421417, 220421419-220421420, 220422126, 220422610, 220422657, 220424035-220424078, 220424188, 220432598, 220432926, 220434998-220435000, 220435063, 220435077-220435084, 220435099, 220435229-220435238, 220435245, 220435248-220435256, 220435287-220435954 |
| 776 | PAX3 | 2 | 0.97496706192358 | 38 | 1518 | 223161798, 223163257-223163293 |
| 777 | COL4A4 | 2 | 0.98736176935229 | 64 | 5064 | 227872906, 227875100, 227886804, 227886823, 227907817, 227907829-227907830, 227920745-227920747, 227942645-227942649, 227942662-227942671, 227942695-227942700, 227942708, 227942711-227942719, 227953401-227953421, 227958867, 227985764 |
| 778 | COL4A3 | 2 | 0.97905445840814 | 105 | 5013 | 228029453-228029454, 228029458-228029492, 228029502-228029508, 228029511, 228029515-228029516, 228029521-228029522, 228102700-228102703, 228102711, 228113223, 228124556, 228131746, 228137727-228137728, 228145251-228145254, 228145257, 228147145-228147148, 228162425, 228162429, 228163424, 228163427, 228163455-228163487 |
| 779 | SLC19A3 | 2 | 0.99530516431925 | 7 | 1491 | 228563959-228563961, 228563966-228563967, 228563977, 228563982 |
| 780 | CHRND | 2 | 0.99485199485199 | 8 | 1554 | 233390937-233390944 |
| 781 | CHRNG | 2 | 0.98069498069498 | 30 | 1554 | 233404477, 233404494, 233409119-233409137, 233409530-233409534, 233409537, 233409590, 233409594, 233409597 |
| 782 | SAG | 2 | 0.9991789819376 | 1 | 1218 | 234243651 |
| 783 | UGT1A1 | 2 | 0.98689138576779 | 21 | 1602 | 234668950-234668954, 234668958-234668959, 234668963-234668966, 234668976-234668985 |
| 784 | COL6A3 | 2 | 0.98667925319908 | 127 | 9534 | 238243363, 238243366, 238243370, 238243374-238243392, 238243398-238243401, 238244860-238244901, 238249167, 238249313-238249319, 238250779, 238274523-238274526, 238274529, 238280449-238280457, 238283067-238283071, 238283090-238283091, 238283334, 238283443-238283454, 238283457, 238283462, 238285634, 238285647, 238303553-238303558, 238303825-238303830 |
| 785 | AGXT | 2 | 0.99151823579304 | 10 | 1179 | 241808303, 241808354, 241816985-241816992 |
| 786 | D2HGDH | 2 | 0.78097062579821 | 343 | 1566 | 242674640-242674657, 242674667-242674672, 242674683, 242674686-242674694, 242674701-242674705, 242674720-242674757, 242674781, 242674784, 242674787-242674789, 242674803, 242674811, 242680456, 242680459-242680462, 242689678, 242689681, 242689688-242689689, 242689703-242689704, 242695398, 242695414, 242695421-242695422, 242695425-242695429, 242707125-242707144, 242707155-242707296, 242707302-242707361, 242707368-242707384 |
| 787 | C20orf54 | 20 | 0.9290780141844 | 100 | 1410 | 741760-741809, 741847, 744308, 744323, 744326-744333, 744354-744389, 745973-745975 |
| 788 | AVP | 20 | 0.24242424242424 | 375 | 495 | 3063276-3063448, 3063623-3063824 |
| 789 | PANK2 | 20 | 0.68768242848803 | 535 | 1713 | 3869753-3869754, 3869757-3869759, 3869778, 3869782-3869792, 3869794-3869796, 3869813-3869851, 3869865-3870058, 3870069, 3870077-3870141, 3870152-3870164, 3870173-3870375 |
| 790 | PRNP | 20 | 0.99343832020997 | 5 | 762 | 4680079, 4680082, 4680089-4680090, 4680093 |
| 791 | FERMT1 | 20 | 0.99410029498525 | 12 | 2034 | 6060162-6060173 |
| 792 | JAG1 | 20 | 0.95761553185671 | 155 | 3657 | 10620508-10620510, 10620517, 10653457, 10653463, 10653466, 10653555-10653598, 10653632-10653654, 10654098-10654178 |
| 793 | C20orf7 | 20 | 0.98747591522158 | 13 | 1038 | 13765743, 13765761, 13782144-13782145, 13782208-13782216 |
| 794 | THBD | 20 | 0.64409722222222 | 615 | 1728 | 23028446-23028451, 23028566-23028569, 23028592-23028638, 23028653-23028662, 23028879, 23028936-23028977, 23029043-23029049, 23029097, 23029103, 23029190, 23029193-23029195, 23029277-23029342, 23029350-23029391, 23029401-23029428, 23029447-23029452, 23029463-23029464, 23029475-23029478, 23029513, 23029519-23029541, 23029547, 23029549-23029556, 23029580-23029615, 23029623-23029652, 23029660-23029699, 23029713-23029778, 23029789, 23029795-23029798, 23029822-23029829, 23029839-23029909, 23029986-23029988, 23030038-23030068, 23030079-23030095, 23030124, 23030130-23030132 |
| 795 | SNTA1 | 20 | 0.80895915678524 | 290 | 1518 | 32031117-32031119, 32031140-32031426 |
| 796 | GDF5 | 20 | 0.95285524568393 | 71 | 1506 | 34021829-34021835, 34021843-34021845, 34021853, 34022219-34022221, 34022393-34022394, 34022425-34022427, 34022439, 34025101-34025102, 34025125-34025130, 34025136-34025156, 34025167-34025171, 34025176, 34025183-34025184, 34025196-34025197, 34025261-34025264, 34025273, 34025276-34025281, 34025538 |
| 797 | SAMHD1 | 20 | 0.97235513024987 | 52 | 1881 | 35579877-35579928 |
| 798 | HNF4A | 20 | 0.99298245614035 | 10 | 1425 | 43057063-43057070, 43058198-43058199 |
| 799 | ADA | 20 | 0.94413919413919 | 61 | 1092 | 43255146-43255147, 43255150-43255153, 43257752-43257773, 43280216-43280248 |
| 800 | CTSA | 20 | 0.97929191716767 | 31 | 1497 | 44520224, 44520238-44520240, 44520245-44520253, 44520326, 44520329, 44520338-44520341, 44523360-44523366, 44523640-44523644 |
| 801 | SLC2A10 | 20 | 0.98892988929889 | 18 | 1626 | 45338376-45338379, 45354189-45354192, 45354548, 45354551, 45354660-45354664, 45354898, 45354902-45354903 |
| 802 | DPM1 | 20 | 0.99489144316731 | 4 | 783 | 49575027-49575030 |
| 803 | SALL4 | 20 | 0.98070841239722 | 61 | 3162 | 50407025, 50407367, 50408321, 50408339-50408350, 50408402, 50408601, 50418818-50418856, 50418881-50418884, 50418934 |
| 804 | VAPB | 20 | 0.9207650273224 | 58 | 732 | 56964516-56964573 |
| 805 | STX16 | 20 | 0.98773006134969 | 12 | 978 | 57244387-57244398 |
| 806 | GNAS | 20 | 0.90650406504065 | 69 | 738 | 57415181, 57415184, 57415190-57415195, 57415201-57415210, 57415237-57415241, 57415254-57415255, 57415280, 57415311-57415352, 57415807 |
| 807 | GNAS | 20 | 0.78066795118818 | 683 | 3114 | 57428427, 57428438-57428439, 57428909, 57429060-57429107, 57429226-57429227, 57429257-57429276, 57429315-57429338, 57429351-57429352, 57429387-57429399, 57429411-57429443, 57429462, 57429474, 57429484, 57429489, 57429494-57429495, 57429501, 57429504-57429509, 57429530-57429540, 57429580-57429659, 57429678-57429726, 57429732-57429791, 57429798-57429808, 57429819, 57429834-57429870, 57429932-57429940, 57429943-57429949, 57429963, 57429969-57429974, 57429993-57430001, 57430032-57430190, 57430199-57430201, 57430206, 57430209-57430211, 57430235-57430308, 57430318, 57430371, 57430384 |
| 808 | EDN3 | 20 | 0.98465829846583 | 11 | 717 | 57875876, 57875914-57875919, 57896242-57896245 |
| 809 | COL9A3 | 20 | 0.92506082725061 | 154 | 2055 | 61448417-61448494, 61448936-61448940, 61448947-61448977, 61448986-61448987, 61456364-61456368, 61456373, 61458594-61458600, 61461157, 61467556-61467561, 61467594-61467600, 61468508, 61468511, 61468517-61468520, 61468528, 61468531, 61468573, 61468604-61468605 |
| 810 | CHRNA4 | 20 | 0.86252653927813 | 259 | 1884 | 61981144-61981145, 61981170-61981172, 61981215-61981264, 61981298-61981326, 61981347-61981349, 61981374-61981402, 61981417-61981425, 61981429, 61981441, 61981447-61981448, 61981507-61981515, 61981577-61981597, 61981600, 61981671-61981706, 61981736, 61982246, 61992451, 61992458-61992517 |
| 811 | KCNQ2 | 20 | 0.82512409316533 | 458 | 2619 | 62037997-62037998, 62038051-62038054, 62038140-62038160, 62038205, 62038290, 62038315-62038320, 62038330, 62038333-62038338, 62038359, 62038362-62038369, 62038430-62038436, 62038442, 62038486-62038506, 62038517-62038554, 62038625-62038628, 62046276-62046278, 62076173, 62076653-62076660, 62076663, 62078115-62078139, 62078162, 62078189, 62103521-62103816 |
| 812 | SOX18 | 20 | 0.091774891774892 | 1049 | 1155 | 62679530-62679541, 62679548, 62679551-62679556, 62679558-62679562, 62679573, 62679587-62679589, 62679600-62679618, 62679621-62679628, 62679636-62679638, 62679646-62679653, 62679658-62679669, 62679677-62679681, 62679692, 62679709-62680315, 62680512-62680869 |
| 813 | APP | 21 | 0.97233030696066 | 64 | 2313 | 27354731, 27354736-27354738, 27423426, 27423429, 27484411, 27542882-27542938 |
| 814 | BACH1 | 21 | 0.99412030755314 | 13 | 2211 | 30693730-30693731, 30714972, 30715017-30715021, 30715029-30715031, 30715063, 30715066 |
| 815 | SOD1 | 21 | 0.93333333333333 | 31 | 465 | 33032102-33032132 |
| 816 | IFNGR2 | 21 | 0.92800788954635 | 73 | 1014 | 34775850-34775922 |
| 817 | KCNE2 | 21 | 0.99731182795699 | 1 | 372 | 35742807 |
| 818 | RCAN1 | 21 | 0.65480895915679 | 262 | 759 | 35895885-35895894, 35987059-35987310 |
| 819 | RUNX1 | 21 | 0.83853083853084 | 233 | 1443 | 36164432-36164466, 36164511, 36164515-36164520, 36164535-36164543, 36164547-36164557, 36164578-36164581, 36164597, 36164600-36164606, 36164609-36164610, 36164614-36164615, 36164643-36164678, 36164698-36164708, 36259151-36259184, 36259214-36259222, 36259287-36259338, 36259350-36259351, 36259355, 36259373, 36259379-36259387 |
| 820 | CLDN14 | 21 | 0.97916666666667 | 15 | 720 | 37833296, 37833386-37833392, 37833982-37833988 |
| 821 | HLCS | 21 | 0.99541494727189 | 10 | 2181 | 38309286-38309295 |
| 822 | TMPRSS3 | 21 | 0.9970695970696 | 4 | 1365 | 43800262-43800265 |
| 823 | CBS | 21 | 0.9987922705314 | 2 | 1656 | 44480616, 44482424 |
| 824 | CSTB | 21 | 0.77777777777778 | 66 | 297 | 45196085-45196150 |
| 825 | AIRE | 21 | 0.71306471306471 | 470 | 1638 | 45705890-45706021, 45706492-45706496, 45706502-45706518, 45706593-45706601, 45706962-45707007, 45707011, 45707015, 45708277, 45708285, 45711011-45711014, 45711017-45711020, 45711039, 45711044, 45712251-45712284, 45712876-45712934, 45712943-45712949, 45712974, 45712977, 45712984-45712986, 45712996-45713001, 45713022-45713031, 45713055-45713058, 45713697, 45713704-45713705, 45713710-45713716, 45713721, 45713754-45713793, 45714285-45714294, 45714300-45714328, 45714333, 45714341, 45714345, 45714351-45714358, 45714368-45714372, 45716266-45716275, 45716278, 45716282-45716286 |
| 826 | ITGB2 | 21 | 0.90519480519481 | 219 | 2310 | 46308608-46308810, 46309401-46309410, 46311766-46311769, 46330674, 46330676 |
| 827 | COL18A1 | 21 | 0.83589743589744 | 864 | 5265 | 46875476-46875481, 46875490-46875491, 46875504-46875505, 46875512, 46875591, 46875862-46875908, 46875927-46875930, 46875937-46875939, 46876183-46876188, 46876246-46876249, 46876257, 46876264, 46876269, 46876272, 46876277, 46876288-46876301, 46876306, 46876318-46876319, 46876345, 46876372-46876379, 46876391-46876394, 46876410-46876411, 46876414, 46876419, 46876427, 46876468-46876506, 46876524-46876583, 46876593-46876616, 46876646-46876684, 46876706-46876745, 46888207, 46888213-46888215, 46888228-46888230, 46888281, 46888615-46888617, 46888642-46888643, 46888655, 46900652, 46900673, 46900712-46900744, 46906775-46906801, 46906837-46906862, 46909408, 46909426, 46909431, 46910206-46910213, 46911171-46911177, 46911180, 46911188, 46911227-46911228, 46913476, 46914463-46914485, 46924425-46924434, 46924437-46924438, 46925078, 46925106-46925169, 46925180, 46925272-46925311, 46925331-46925345, 46925805-46925812, 46925849-46925855, 46929335-46929361, 46929404, 46929407-46929410, 46929414-46929458, 46929467, 46930007-46930044, 46930052-46930098, 46930107-46930175, 46931025-46931032, 46931061-46931065, 46931077, 46932199-46932202 |
| 828 | COL6A1 | 21 | 0.88759313249109 | 347 | 3087 | 47401765-47401811, 47401819-47401823, 47401830-47401835, 47401839, 47401844-47401861, 47404222-47404223, 47407529, 47407540, 47407547-47407557, 47410172-47410187, 47410196-47410198, 47410306, 47410312-47410317, 47410326-47410336, 47410720-47410740, 47414083-47414091, 47417634, 47419571-47419606, 47420251-47420253, 47420673-47420681, 47421232-47421235, 47421284-47421300, 47422181-47422215, 47422291, 47422515-47422540, 47423388, 47423401, 47423422, 47423425, 47423428, 47423433-47423438, 47423485, 47423488-47423491, 47423505, 47423509, 47423548, 47423636-47423672 |
| 829 | COL6A2 | 21 | 0.87287581699346 | 389 | 3060 | 47531434-47531503, 47531977-47532004, 47532055-47532057, 47532083-47532084, 47532093, 47532183-47532192, 47532279-47532291, 47532298-47532300, 47536578, 47539755, 47545515, 47545519, 47545746-47545751, 47545758-47545760, 47545768, 47545826, 47545913, 47545923-47545925, 47545951, 47545965-47545973, 47545979-47545981, 47546072-47546079, 47551915-47551918, 47551938, 47552008-47552009, 47552036-47552087, 47552092, 47552162-47552168, 47552206-47552222, 47552228-47552259, 47552289, 47552339-47552341, 47552354-47552355, 47552363-47552428, 47552436-47552466 |
| 830 | COL6A2 | 21 | 0.47368421052632 | 180 | 342 | 47552206-47552222, 47552228-47552259, 47552289, 47552339-47552341, 47552354-47552355, 47552363-47552428, 47552436-47552469, 47552475-47552499 |
| 831 | FTCD | 21 | 0.82656826568266 | 282 | 1626 | 47565333-47565334, 47565337-47565343, 47565353-47565354, 47565358-47565360, 47565371-47565376, 47565384-47565388, 47565390-47565456, 47565478, 47565491, 47565732-47565812, 47565827-47565861, 47566232, 47571494, 47571511, 47571598-47571602, 47571614, 47571636, 47571843-47571849, 47574132-47574149, 47574185-47574221 |
| 832 | PCNT | 21 | 0.94935570872041 | 507 | 10011 | 47744143-47744150, 47744159-47744196, 47754449, 47754471, 47766837-47766840, 47783787, 47783794-47783796, 47783807, 47786576, 47786594-47786595, 47786598, 47786696-47786729, 47787019-47787021, 47811129, 47811133-47811138, 47811194, 47817332-47817344, 47817941-47817956, 47817977-47818016, 47818042, 47818157, 47822311-47822315, 47822326-47822348, 47831254, 47831302, 47831306-47831308, 47831313, 47831359, 47831365-47831407, 47831410-47831426, 47831431-47831454, 47831476-47831480, 47831482, 47831486, 47831710-47831712, 47831719-47831736, 47831771, 47831774-47831789, 47831806, 47832833-47832858, 47832898-47832906, 47836653-47836654, 47836691-47836692, 47836711, 47836714, 47836723, 47836726, 47836731, 47836746, 47836752-47836753, 47841908-47841912, 47841929-47841934, 47848322-47848335, 47848379-47848394, 47848400-47848402, 47850529, 47851665, 47851703-47851708, 47851834-47851843, 47851848-47851852, 47856002-47856022, 47858088-47858090, 47858096-47858099, 47858209, 47858213, 47863807-47863809, 47863829, 47863832-47863848 |
| 833 | PEX26 | 22 | 0.97276688453159 | 25 | 918 | 18561180, 18561185-18561186, 18561198-18561207, 18561216-18561219, 18561227, 18561229, 18561243, 18561247, 18566322, 18566325, 18566328, 18566333 |
| 834 | PRODH | 22 | 0.79478646699945 | 370 | 1803 | 18900750-18900752, 18904413-18904414, 18905879-18905918, 18905964, 18905967, 18905976-18905977, 18908856-18908898, 18908921-18908923, 18908935-18908936, 18923528-18923800 |
| 835 | GP1BB | 22 | 0.066022544283414 | 580 | 621 | 19711096, 19711377-19711955 |
| 836 | TBX1 | 22 | 0.32325268817204 | 1007 | 1488 | 19748428-19748803, 19751727-19751735, 19753290-19753304, 19753315-19753348, 19753425-19753525, 19753912-19754367, 19754375-19754390 |
| 837 | SMARCB1 | 22 | 0.91968911917098 | 93 | 1158 | 24129357-24129449 |
| 838 | UPB1 | 22 | 0.9991341991342 | 1 | 1155 | 24919644 |
| 839 | HPS4 | 22 | 0.99526515151515 | 10 | 2112 | 26849213, 26849225, 26849231, 26849283, 26849286-26849288, 26849291, 26860322, 26860536 |
| 840 | CHEK2 | 22 | 0.96649630891539 | 59 | 1761 | 29083905-29083928, 29083946-29083965, 29085165-29085171, 29091740, 29095924, 29126445-29126450 |
| 841 | NF2 | 22 | 0.97427293064877 | 46 | 1788 | 29999988-30000028, 30051657, 30074306, 30074310-30074312 |
| 842 | SLC5A1 | 22 | 0.99197994987469 | 16 | 1995 | 32463965, 32463980-32463982, 32487610, 32495170, 32495187, 32495196, 32495201-32495207, 32495281 |
| 843 | TIMP3 | 22 | 0.89308176100629 | 68 | 636 | 33197988-33198027, 33198058-33198085 |
| 844 | LARGE | 22 | 0.99823866138265 | 4 | 2271 | 33700304, 33700308, 33700316, 33712093 |
| 845 | MYH9 | 22 | 0.97892231854496 | 124 | 5883 | 36680523-36680525, 36681924, 36681953, 36681968-36681972, 36684879, 36688097-36688105, 36688110-36688123, 36688170-36688178, 36692952-36692955, 36696948-36696950, 36697007-36697017, 36708245, 36708248-36708249, 36708252-36708257, 36708262-36708263, 36710268-36710273, 36710276, 36710279-36710295, 36710311-36710312, 36712673, 36718540-36718564 |
| 846 | TRIOBP | 22 | 0.95097210481826 | 348 | 7098 | 38109247-38109248, 38109251-38109254, 38109259-38109266, 38109307-38109311, 38109315-38109322, 38109382-38109391, 38111867, 38111877, 38111884, 38119712-38119715, 38119891-38119897, 38120025-38120068, 38120193-38120215, 38120426-38120432, 38121737, 38121740, 38121917, 38121925, 38121937-38121939, 38121942, 38121954-38121958, 38122010-38122016, 38122025-38122027, 38122103-38122105, 38122125-38122129, 38122433-38122436, 38122439, 38122446-38122450, 38122455, 38122462, 38129306-38129326, 38129346-38129386, 38129412-38129419, 38130472, 38130902-38130913, 38131365-38131366, 38131369, 38136917, 38136938-38136943, 38136961-38136968, 38137005-38137007, 38153779, 38153818-38153839, 38153875-38153881, 38153929-38153940, 38161677, 38161715-38161723, 38161742-38161743, 38161760, 38161770, 38161775-38161776, 38161783, 38165163-38165164, 38165175-38165183, 38165186-38165190, 38165193 |
| 847 | SOX10 | 22 | 0.81655960028551 | 257 | 1401 | 38369502-38369506, 38369598-38369606, 38369611-38369638, 38369809, 38369822, 38369932, 38369935-38369957, 38369973-38369976, 38370003, 38379480-38379482, 38379504-38379561, 38379567-38379577, 38379661-38379691, 38379699-38379707, 38379711-38379775, 38379785-38379791 |
| 848 | PLA2G6 | 22 | 0.99628252788104 | 9 | 2421 | 38511673, 38536126-38536133 |
| 849 | EP300 | 22 | 0.98674948240166 | 96 | 7245 | 41489077-41489078, 41489087, 41523510, 41523530-41523533, 41523556-41523560, 41545938-41545944, 41546041-41546066, 41546094-41546096, 41546127-41546129, 41573194-41573196, 41573230, 41573421-41573435, 41573438-41573439, 41573446-41573449, 41573547, 41573560-41573561, 41573564, 41573935-41573944, 41574190-41574193, 41574210 |
| 850 | TNFRSF13C | 22 | 0.3963963963964 | 335 | 555 | 42322114-42322118, 42322128-42322177, 42322192-42322335, 42322642-42322777 |
| 851 | CYB5R3 | 22 | 0.97350993377483 | 24 | 906 | 43027416, 43027426, 43027430, 43045301-43045321 |
| 852 | ATXN10 | 22 | 0.91596638655462 | 120 | 1428 | 46067944-46068059, 46136321-46136324 |
| 853 | TRMU | 22 | 0.91074249605055 | 113 | 1266 | 46731662-46731689, 46731698-46731737, 46751354-46751391, 46752825-46752831 |
| 854 | ALG12 | 22 | 0.96182685753238 | 56 | 1467 | 50297985-50297991, 50297994, 50297996-50298006, 50298009, 50301562, 50303628, 50303703-50303712, 50303729, 50304175-50304188, 50307359, 50307366, 50307376-50307377, 50307382-50307386 |
| 855 | MLC1 | 22 | 0.9620811287478 | 43 | 1134 | 50502473-50502482, 50502491-50502492, 50502502, 50502520, 50502524, 50502542, 50502576-50502578, 50502581, 50502596-50502597, 50502608-50502627, 50515908 |
| 856 | SCO2 | 22 | 0.99001248439451 | 8 | 801 | 50962061-50962062, 50962533, 50962551, 50962663, 50962671, 50962692-50962693 |
| 857 | TYMP | 22 | 0.5576259489303 | 641 | 1449 | 50964199-50964217, 50964224-50964347, 50964430-50964570, 50964675-50964905, 50965005-50965009, 50965017-50965068, 50965085, 50965088, 50965091, 50965094, 50965111-50965159, 50967670, 50967677-50967680, 50967690-50967693, 50968108-50968114 |
| 858 | ARSA | 22 | 0.93503937007874 | 99 | 1524 | 51063640-51063687, 51063749-51063752, 51063761-51063766, 51063795, 51063817-51063818, 51063823-51063832, 51063861, 51063868-51063870, 51063888, 51064030-51064032, 51064084, 51064390, 51064455-51064457, 51065346, 51065374, 51065378, 51065807, 51065813-51065817, 51066168, 51066186, 51066192-51066195 |
| 859 | SHANK3 | 22 | 0.58581235697941 | 2172 | 5244 | 51113070-51113132, 51113477-51113478, 51113483-51113514, 51113518-51113520, 51113530, 51113535, 51113540-51113541, 51113558-51113562, 51113565, 51113580-51113585, 51113589, 51113593-51113603, 51113625-51113666, 51113676-51113679, 51117042, 51117758, 51133292-51133300, 51133310, 51133328-51133332, 51133344, 51133377, 51135694-51135712, 51135951-51136143, 51137126, 51137177, 51143255-51143276, 51144500-51144529, 51158620-51158632, 51158707-51158713, 51158720-51159340, 51159350-51159360, 51159371, 51159374-51159389, 51159396-51159414, 51159421-51159498, 51159544-51159615, 51159626-51159640, 51159646-51159693, 51159700-51159726, 51159759-51159765, 51159781-51159821, 51159899-51159903, 51159952-51159956, 51159960, 51159963-51159965, 51159995, 51159998, 51160041, 51160186-51160217, 51160229-51160274, 51160308, 51160311-51160312, 51160517-51160539, 51160547-51160568, 51160782-51160785, 51160860, 51169152-51169740 |
| 860 | SUMF1 | 3 | 0.952 | 54 | 1125 | 4458818-4458820, 4458855, 4458903, 4508704, 4508712, 4508733-4508752, 4508804-4508810, 4508846-4508856, 4508864-4508872 |
| 861 | ITPR1 | 3 | 0.99877044141153 | 10 | 8133 | 4687340, 4703824-4703832 |
| 862 | CAV3 | 3 | 0.90789473684211 | 42 | 456 | 8787512-8787553 |
| 863 | FANCD2 | 3 | 0.98573369565217 | 63 | 4416 | 10088264-10088311, 10106495, 10107087-10107093, 10114941-10114947 |
| 864 | VHL | 3 | 0.82242990654206 | 114 | 642 | 10183532-10183539, 10183646, 10183658-10183664, 10183671-10183674, 10183680, 10183694-10183703, 10183708, 10183714-10183715, 10183724-10183728, 10183764-10183790, 10183803-10183850 |
| 865 | WNT7A | 3 | 0.99333333333333 | 7 | 1050 | 13860596, 13860824, 13896253-13896255, 13896258-13896259 |
| 866 | TMEM43 | 3 | 0.99833748960931 | 2 | 1203 | 14183179, 14183293 |
| 867 | XPC | 3 | 0.99504073680482 | 14 | 2823 | 14187441, 14189499, 14199600, 14214464, 14220022, 14220031, 14220036, 14220045, 14220051-14220056 |
| 868 | COLQ | 3 | 0.99488304093567 | 7 | 1368 | 15563089-15563095 |
| 869 | TGFBR2 | 3 | 0.964586846543 | 63 | 1779 | 30648376-30648388, 30648392-30648441 |
| 870 | GLB1 | 3 | 0.96312684365782 | 75 | 2034 | 33138503-33138577 |
| 871 | CRTAP | 3 | 0.60862354892206 | 472 | 1206 | 33155570-33156040, 33174156 |
| 872 | MLH1 | 3 | 0.98811096433289 | 27 | 2271 | 37067372-37067396, 37067405, 37067408 |
| 873 | SCN5A | 3 | 0.99303786721005 | 41 | 5889 | 38592032-38592034, 38592064-38592068, 38592339-38592343, 38598060, 38622742, 38627373-38627392, 38645390, 38648160-38648163, 38651428 |
| 874 | ABHD5 | 3 | 0.9552380952381 | 47 | 1050 | 43732485-43732531 |
| 875 | TMIE | 3 | 0.5838779956427 | 191 | 459 | 46742860-46743050 |
| 876 | TMIE | 3 | 0.83864118895966 | 76 | 471 | 46742978-46743050, 46751074-46751076 |
| 877 | TREX1 | 3 | 0.9045045045045 | 106 | 1110 | 48508033-48508039, 48508068-48508088, 48508113-48508133, 48508324-48508330, 48508399-48508423, 48508443-48508463, 48508926-48508927, 48508934-48508935 |
| 878 | COL7A1 | 3 | 0.98041878890775 | 173 | 8835 | 48602256, 48605023-48605025, 48612512-48612527, 48612832-48612839, 48612857-48612859, 48612888-48612892, 48612901-48612910, 48617025, 48617030, 48617039-48617047, 48625228-48625233, 48625252, 48625314, 48625349, 48625352, 48625355, 48627032-48627045, 48627065-48627072, 48627118-48627127, 48627130-48627135, 48629674-48629676, 48629679-48629680, 48630091, 48630099, 48630120, 48630240, 48630548-48630557, 48630565, 48632541-48632587 |
| 879 | LAMB2 | 3 | 0.99147674634056 | 46 | 5397 | 49159456, 49159459, 49160453-49160455, 49162028, 49162751-49162754, 49162782-49162799, 49162810-49162814, 49162821, 49162889-49162891, 49162909, 49163229, 49163233-49163236, 49166219-49166220, 49170046 |
| 880 | GNAT1 | 3 | 0.79677113010446 | 214 | 1053 | 50231186-50231212, 50231223-50231227, 50231231-50231237, 50231240-50231241, 50231244-50231245, 50231251-50231254, 50231545-50231566, 50231613-50231614, 50231638, 50231934-50231970, 50232031-50232037, 50232198-50232275, 50232319-50232338 |
| 881 | HYAL1 | 3 | 0.99159021406728 | 11 | 1308 | 50338449, 50338460, 50338466-50338470, 50338475-50338476, 50338497, 50339834 |
| 882 | RFT1 | 3 | 0.95448954489545 | 74 | 1626 | 53126056, 53126063, 53156398-53156450, 53156472-53156477, 53156480-53156482, 53156542, 53156547, 53157774-53157781 |
| 883 | TKT | 3 | 0.93482905982906 | 122 | 1872 | 53263023-53263028, 53263426, 53263429, 53267206-53267207, 53267212-53267216, 53289852-53289958 |
| 884 | HESX1 | 3 | 0.99462365591398 | 3 | 558 | 57232288-57232289, 57233931 |
| 885 | FLNB | 3 | 0.99513381995134 | 38 | 7809 | 57994305, 57994369-57994381, 57994410, 57994412-57994417, 57994430, 58109410-58109417, 58134023, 58145389, 58145392-58145394, 58145404-58145406 |
| 886 | PDHB | 3 | 0.95 | 54 | 1080 | 58416472-58416475, 58416481-58416488, 58416507-58416510, 58419371-58419382, 58419389-58419395, 58419495-58419513 |
| 887 | ATXN7 | 3 | 0.88548273431994 | 325 | 2838 | 63898275-63898599 |
| 888 | MITF | 3 | 0.97760716570697 | 35 | 1563 | 69788749-69788773, 69788787, 69928365-69928367, 69928373, 69928377, 69928419-69928420, 69928473, 69928476 |
| 889 | PROK2 | 3 | 0.82051282051282 | 70 | 390 | 71834121-71834125, 71834127-71834131, 71834135-71834194 |
| 890 | ROBO2 | 3 | 0.99564902102973 | 18 | 4137 | 77147383, 77595548-77595550, 77595554-77595563, 77671548, 77684111-77684112, 77684116 |
| 891 | GBE1 | 3 | 0.9606448553817 | 83 | 2109 | 81586161-81586170, 81627215, 81754642-81754675, 81754688-81754710, 81754735-81754743, 81754746-81754748, 81810542, 81810545, 81810621 |
| 892 | PROS1 | 3 | 0.94583948793698 | 110 | 2031 | 93595810-93595811, 93595822, 93595827-93595830, 93595834-93595846, 93595900, 93595910, 93595917-93595921, 93595930-93595931, 93595934, 93595945-93595983, 93595995, 93596002, 93596005-93596006, 93596013, 93596019, 93596022-93596023, 93611880, 93615443-93615448, 93629506-93629518, 93643101, 93692552-93692558, 93692561-93692563, 93692580-93692581 |
| 893 | ARL6 | 3 | 0.97326203208556 | 15 | 561 | 97486973-97486984, 97503817, 97503846, 97503893 |
| 894 | CPOX | 3 | 0.81684981684982 | 250 | 1365 | 98307563, 98307566, 98307585-98307589, 98307594-98307600, 98311839, 98311856, 98311882-98311888, 98311929-98311936, 98311957-98311984, 98312038, 98312078, 98312081-98312103, 98312108-98312111, 98312114-98312116, 98312129-98312142, 98312146-98312230, 98312234-98312239, 98312245-98312246, 98312248-98312257, 98312270-98312271, 98312280-98312289, 98312291, 98312297-98312325 |
| 895 | IQCB1 | 3 | 0.99721758486366 | 5 | 1797 | 121516009, 121516012, 121516046, 121547475-121547476 |
| 896 | CASR | 3 | 0.98239110287303 | 57 | 3237 | 121976197-121976214, 122002839, 122002968, 122003097-122003102, 122003114, 122003125-122003130, 122003461-122003472, 122003482-122003484, 122003496-122003501, 122003512, 122003517, 122003606 |
| 897 | UMPS | 3 | 0.997227997228 | 4 | 1443 | 124462861-124462862, 124462871-124462872 |
| 898 | ACAD9 | 3 | 0.9935691318328 | 12 | 1866 | 128628932-128628938, 128628944, 128628948-128628951 |
| 899 | GP9 | 3 | 0.85955056179775 | 75 | 534 | 128780621, 128780676-128780701, 128780899-128780901, 128780945-128780948, 128780952-128780953, 128780964-128780965, 128780980-128780991, 128781001-128781005, 128781049, 128781058-128781073, 128781082-128781084 |
| 900 | RHO | 3 | 0.99713467048711 | 3 | 1047 | 129251377, 129251473-129251474 |
| 901 | ATP2C1 | 3 | 0.99087719298246 | 26 | 2850 | 130660518-130660524, 130699454-130699470, 130718375, 130718472 |
| 902 | NPHP3 | 3 | 0.90959178562484 | 361 | 3993 | 132418199, 132432002, 132435676-132435678, 132435752-132435753, 132438549-132438674, 132440811, 132440818-132440828, 132440935-132440942, 132440946, 132440952-132440953, 132440956, 132440961-132440971, 132440977, 132440980-132440985, 132441014-132441199 |
| 903 | PCCB | 3 | 0.99753086419753 | 4 | 1620 | 135969229, 135969273, 135969287, 135969360 |
| 904 | FOXL2 | 3 | 0.22988505747126 | 871 | 1131 | 138664434-138664454, 138664520, 138664538-138665138, 138665149, 138665166-138665267, 138665305, 138665336-138665394, 138665408, 138665411-138665418, 138665422, 138665463-138665482, 138665497-138665522, 138665536-138665564 |
| 905 | MRPS22 | 3 | 0.99815327793167 | 2 | 1083 | 139074589, 139075851 |
| 906 | PLOD2 | 3 | 0.98155467720685 | 42 | 2277 | 145794669, 145799556-145799557, 145799567, 145799596, 145802966-145802969, 145802991-145802999, 145804584-145804587, 145804599, 145804602, 145804626, 145804629, 145804632-145804635, 145804640, 145804654, 145804659-145804660, 145804663, 145804684, 145804689-145804690, 145804695, 145828173, 145878687-145878688 |
| 907 | AGTR1 | 3 | 0.99074074074074 | 10 | 1080 | 148459102, 148459105-148459108, 148459111-148459112, 148459135-148459137 |
| 908 | HPS3 | 3 | 0.99734660033167 | 8 | 3015 | 148847547, 148847554, 148847565-148847568, 148847672, 148847694 |
| 909 | GFM1 | 3 | 0.98315602836879 | 38 | 2256 | 158362451-158362454, 158362463-158362484, 158380468, 158383195, 158383199, 158399855-158399863 |
| 910 | IFT80 | 3 | 0.99656357388316 | 8 | 2328 | 159995424, 160037671, 160093651, 160099298-160099300, 160099475-160099476 |
| 911 | BCHE | 3 | 0.99944720840243 | 1 | 1809 | 165547726 |
| 912 | SLC2A2 | 3 | 0.99809523809524 | 3 | 1575 | 170715736, 170720370-170720371 |
| 913 | PLD1 | 3 | 0.99937984496124 | 2 | 3225 | 171338216, 171379940 |
| 914 | GHSR | 3 | 0.98455949137148 | 17 | 1101 | 172165783, 172165787-172165788, 172165792-172165793, 172165812, 172165991, 172166081-172166085, 172166090, 172166094, 172166104-172166106 |
| 915 | SOX2 | 3 | 0.76729559748428 | 222 | 954 | 181430149-181430161, 181430167-181430168, 181430174-181430182, 181430184-181430223, 181430233-181430243, 181430247-181430248, 181430264, 181430293-181430301, 181430304-181430312, 181430316, 181430318-181430322, 181430333-181430336, 181430341-181430347, 181430370, 181430373-181430379, 181430406-181430448, 181430469, 181430481, 181430498, 181430514-181430522, 181430535, 181430541-181430550, 181430587-181430589, 181430717, 181430724-181430725, 181430836-181430864 |
| 916 | MCCC1 | 3 | 0.98852157943067 | 25 | 2178 | 182789034, 182804489-182804491, 182804496, 182804513-182804530, 182817216, 182817223 |
| 917 | KLHL6 | 3 | 0.9994640943194 | 1 | 1866 | 183209986 |
| 918 | ALG3 | 3 | 0.95216400911162 | 63 | 1317 | 183960397, 183962414, 183963014, 183963021-183963022, 183966589, 183966593, 183966613-183966632, 183966651-183966652, 183966665, 183966689-183966721 |
| 919 | CLCN2 | 3 | 0.98961809417872 | 28 | 2697 | 184064431, 184064434, 184064493-184064508, 184072337-184072343, 184075008, 184075430, 184076077 |
| 920 | TP63 | 3 | 0.99412628487518 | 12 | 2043 | 189526279-189526281, 189526284-189526287, 189526290, 189526308-189526311 |
| 921 | CCDC50 | 3 | 0.99930986887509 | 1 | 1449 | 191107333 |
| 922 | OPA1 | 3 | 0.9990157480315 | 3 | 3048 | 193311167, 193354984, 193365893 |
| 923 | CPN2 | 3 | 0.99206349206349 | 13 | 1638 | 194061870-194061874, 194061950-194061957 |
| 924 | PDE6B | 4 | 0.99181286549708 | 21 | 2565 | 629748-629749, 629752, 650742, 657585-657596, 657614, 657617, 657629, 659065, 663866 |
| 925 | IDUA | 4 | 0.58103975535168 | 822 | 1962 | 980873-980991, 981000-981023, 981597-981602, 981636-981681, 981715-981737, 994414, 995334, 995500-995518, 995527, 995772-995783, 995796, 995805, 995867-995870, 995876-995877, 995884-995888, 995891, 995919, 995924-995928, 995938-995939, 995949, 996057-996058, 996069-996076, 996103-996122, 996165, 996173, 996186-996187, 996217-996226, 996235-996273, 996520-996732, 996824-996945, 997133-997204, 997230-997255, 997337-997365, 998077, 998135 |
| 926 | FGFR3 | 4 | 0.81293778327153 | 454 | 2427 | 1795662-1795726, 1795737-1795763, 1803094-1803100, 1803108-1803145, 1803347-1803355, 1803378, 1803397-1803405, 1803465-1803466, 1803562-1803565, 1803588-1803594, 1803597, 1803600-1803632, 1803673-1803679, 1803719-1803721, 1803732-1803740, 1804641-1804642, 1806178-1806179, 1807098, 1808406-1808410, 1808556-1808591, 1808600-1808661, 1808843-1808958, 1808972, 1808976-1808982 |
| 927 | SH3BP2 | 4 | 0.87560581583199 | 231 | 1857 | 2819951-2820117, 2831348, 2831379, 2831383, 2831388-2831391, 2831396, 2831399-2831403, 2831406-2831414, 2831498, 2831501-2831502, 2831511-2831512, 2831566, 2831796, 2831810-2831819, 2835498-2835522 |
| 928 | HTT | 4 | 0.9539717891611 | 434 | 9429 | 3076553-3076603, 3076604-3076807, 3123027-3123036, 3123043-3123053, 3123057, 3123072-3123105, 3129265, 3148566-3148573, 3149848, 3213774-3213780, 3213783-3213784, 3213814, 3213819, 3215729, 3215732, 3215750, 3234890-3234923, 3234945-3234976, 3240557, 3240655-3240686 |
| 929 | DOK7 | 4 | 0.77161716171617 | 346 | 1515 | 3465103-3465156, 3465233-3465278, 3475133-3475137, 3475194-3475195, 3478109-3478112, 3478117-3478125, 3478155-3478156, 3478159, 3478168-3478173, 3478202-3478203, 3491489-3491516, 3494532-3494554, 3494600, 3494610-3494613, 3494628, 3494631, 3494639-3494641, 3494646-3494654, 3494662-3494673, 3494679-3494683, 3494763-3494801, 3494839-3494852, 3494867-3494875, 3494888-3494894, 3495015-3495042, 3495056, 3495068, 3495095, 3495098, 3495111, 3495123-3495129, 3495147-3495163, 3495167-3495168 |
| 930 | DOK7 | 4 | 0.7326565143824 | 158 | 591 | 3494532-3494554, 3494600, 3494610-3494613, 3494628, 3494631, 3494639-3494641, 3494646-3494654, 3494662-3494673, 3494679-3494683, 3494763-3494801, 3494839-3494852, 3494867-3494875, 3494888-3494894, 3495015-3495042, 3495056, 3495068 |
| 931 | MSX1 | 4 | 0.49451754385965 | 461 | 912 | 4861627-4861977, 4861990-4862001, 4862018-4862029, 4862070-4862090, 4864445, 4864502-4864503, 4864506-4864513, 4864516, 4864749-4864778, 4864791-4864813 |
| 932 | EVC2 | 4 | 0.97682709447415 | 91 | 3927 | 5564590, 5570173, 5570255, 5570263, 5570301, 5570308-5570310, 5577973, 5578092-5578093, 5578103, 5578112, 5578115, 5578124, 5710048-5710054, 5710099, 5710102-5710103, 5710107-5710110, 5710118-5710119, 5710125-5710155, 5710158, 5710170-5710171, 5710212, 5710214-5710222, 5710225-5710240 |
| 933 | EVC | 4 | 0.90768714333669 | 275 | 2979 | 5713108-5713273, 5754734, 5795418-5795420, 5795437, 5795440, 5795444, 5800354-5800364, 5800376-5800406, 5800434-5800468, 5803738, 5809928-5809937, 5809986, 5809989-5809990, 5809999-5810009 |
| 934 | WFS1 | 4 | 0.93228582117471 | 181 | 2673 | 6279357, 6290776, 6293696, 6293701, 6293704-6293705, 6293723-6293724, 6302668, 6303022, 6303237, 6303246-6303250, 6303253-6303256, 6303277-6303315, 6303342-6303348, 6303432-6303450, 6303515-6303563, 6303635-6303647, 6303784-6303785, 6303794, 6303874-6303883, 6303886-6303901, 6303907, 6303929-6303930, 6303933-6303934 |
| 935 | SLC2A9 | 4 | 0.96672828096118 | 54 | 1623 | 9922069-9922098, 9922127-9922133, 9982217-9982226, 10020633-10020637, 10020651, 10022988 |
| 936 | CC2D2A | 4 | 0.99814929056138 | 9 | 4863 | 15518330, 15539687-15539690, 15591214, 15591228-15591229, 15591241 |
| 937 | PROM1 | 4 | 0.99923017705928 | 2 | 2598 | 16008282, 16020087 |
| 938 | QDPR | 4 | 0.85442176870748 | 107 | 735 | 17503386-17503387, 17513573-17513677 |
| 939 | CNGA1 | 4 | 0.93070175438596 | 158 | 2280 | 47954609-47954707, 47972914-47972919, 47972934-47972935, 47972959, 47972969-47972982, 47973019-47973023, 47973032, 47973038, 47973052-47973053, 47973058-47973067, 47973070-47973080, 47973094, 47973100-47973104 |
| 940 | SGCB | 4 | 0.95193312434692 | 46 | 957 | 52895877-52895878, 52895889-52895891, 52895893-52895895, 52895905-52895906, 52895997, 52896001-52896002, 52904393-52904425 |
| 941 | PDGFRA | 4 | 0.99296636085627 | 23 | 3270 | 55127478-55127479, 55127514-55127531, 55161347, 55161371, 55161391 |
| 942 | KIT | 4 | 0.9812350733538 | 55 | 2931 | 55524182, 55524185-55524216, 55524235-55524248, 55573402-55573403, 55602732-55602737 |
| 943 | GNRHR | 4 | 0.99696048632219 | 3 | 987 | 68606377, 68606381, 68606427 |
| 944 | SLC4A4 | 4 | 0.98904109589041 | 36 | 3285 | 72121082, 72121099-72121101, 72121104, 72306452-72306477, 72399972-72399975, 72423492 |
| 945 | ALB | 4 | 0.98360655737705 | 30 | 1830 | 74275132-74275146, 74279185-74279189, 74279198-74279202, 74279242-74279246 |
| 946 | COQ2 | 4 | 0.9004329004329 | 115 | 1155 | 84193260-84193265, 84205708, 84205715-84205717, 84205739-84205753, 84205756-84205768, 84205786-84205790, 84205793, 84205797-84205806, 84205824-84205826, 84205845-84205855, 84205857-84205900, 84205902, 84205907, 84205947 |
| 947 | CDS1 | 4 | 0.93939393939394 | 84 | 1386 | 85504573, 85504602-85504605, 85504613, 85504616-85504618, 85555028, 85555041, 85555048, 85555064-85555088, 85556462-85556504, 85562063, 85562102, 85569751, 85569771 |
| 948 | PKD2 | 4 | 0.81699346405229 | 532 | 2907 | 88928886-88929401, 88929429-88929438, 88929451, 88929469, 88983151-88983154 |
| 949 | SNCA | 4 | 0.86761229314421 | 56 | 423 | 90749294-90749335, 90756702-90756708, 90756767-90756773 |
| 950 | MTTP | 4 | 0.99813780260708 | 5 | 2685 | 100512862, 100530007-100530010 |
| 951 | MANBA | 4 | 0.99280303030303 | 19 | 2640 | 103681883-103681887, 103681902, 103682019, 103682028-103682033, 103682036-103682041 |
| 952 | CISD2 | 4 | 0.97058823529412 | 12 | 408 | 103790283, 103808512-103808522 |
| 953 | TACR3 | 4 | 0.97997138769671 | 28 | 1398 | 104640735-104640736, 104640785, 104640788-104640812 |
| 954 | HADH | 4 | 0.99470899470899 | 5 | 945 | 108911099, 108911123, 108911207, 108911210, 108911215 |
| 955 | CFI | 4 | 0.98915525114155 | 19 | 1752 | 110673639, 110673648, 110723087, 110723098-110723107, 110723112-110723114, 110723117-110723119 |
| 956 | GAR1 | 4 | 0.99694189602446 | 2 | 654 | 110737403-110737404 |
| 957 | PITX2 | 4 | 0.95897435897436 | 40 | 975 | 111539284-111539291, 111539748-111539752, 111539755, 111539764-111539767, 111542384-111542386, 111542396-111542403, 111542409-111542419 |
| 958 | ANK2 | 4 | 0.99612598955702 | 46 | 11874 | 114095593-114095595, 114161705, 114170933-114170936, 114177020-114177024, 114213646-114213651, 114232495-114232515, 114253216-114253218, 114257783-114257784, 114257929 |
| 959 | BBS7 | 4 | 0.99162011173184 | 18 | 2148 | 122775872-122775875, 122775886-122775890, 122775896, 122775899, 122782756-122782760, 122782769-122782770 |
| 960 | MFSD8 | 4 | 0.97302504816956 | 42 | 1557 | 128859938-128859967, 128859982-128859993 |
| 961 | MMAA | 4 | 0.99124900556881 | 11 | 1257 | 146567243-146567253 |
| 962 | NR3C2 | 4 | 0.99153976311337 | 25 | 2955 | 149075961-149075983, 149075996-149075997 |
| 963 | LRAT | 4 | 0.995670995671 | 3 | 693 | 155665917-155665919 |
| 964 | CTSO | 4 | 0.90890269151139 | 88 | 966 | 156860560-156860562, 156860580, 156860597, 156860607, 156874865-156874908, 156874938-156874952, 156874956-156874957, 156874962-156874966, 156874971-156874984, 156874990-156874991 |
| 965 | GLRB | 4 | 0.96787148594378 | 48 | 1494 | 158041721-158041727, 158041763-158041766, 158041813-158041814, 158057762-158057775, 158060017, 158060021-158060030, 158060042, 158060059, 158091788-158091795 |
| 966 | GK | 4 | 0.94163658243081 | 97 | 1662 | 166199386-166199432, 166200025-166200066, 166200118, 166200757-166200763 |
| 967 | SLC25A4 | 4 | 0.87513935340022 | 112 | 897 | 186064527-186064637, 186066162 |
| 968 | SDHA | 5 | 0.92932330827068 | 141 | 1995 | 218471-218533, 228362, 231045-231051, 231111, 236628-236656, 251143-251149, 254571-254602, 256509 |
| 969 | SLC6A19 | 5 | 0.97795275590551 | 42 | 1905 | 1201766-1201771, 1201955, 1201959-1201967, 1208941, 1210559-1210561, 1214084-1214087, 1216998-1217002, 1219681-1219693 |
| 970 | TERT | 5 | 0.79464548396587 | 698 | 3399 | 1254587, 1254598, 1254608, 1258729, 1264558, 1271289, 1278897, 1278900, 1280357-1280394, 1280421-1280427, 1293436, 1293441, 1293446, 1293578, 1293589, 1293686, 1293694, 1293702-1293703, 1293757-1293763, 1293939, 1293958, 1293971-1293972, 1294098-1294126, 1294209-1294210, 1294254-1294292, 1294297-1294298, 1294304-1294307, 1294310, 1294339-1294357, 1294360-1294366, 1294394, 1294410-1294453, 1294468-1294469, 1294480-1294488, 1294503-1294506, 1294520, 1294530-1294742, 1294753-1294781, 1294886-1295104 |
| 971 | SLC6A3 | 5 | 0.9801395598497 | 37 | 1863 | 1403186-1403204, 1414806, 1414817-1414821, 1414875-1414885, 1443151 |
| 972 | SDHA | 5 | 0.84097859327217 | 52 | 327 | 1594510, 1594519-1594569 |
| 973 | NDUFS6 | 5 | 0.99733333333333 | 1 | 375 | 1801536 |
| 974 | MTRR | 5 | 0.97474747474747 | 55 | 2178 | 7869254-7869299, 7885959, 7886770, 7897309-7897315 |
| 975 | DNAH5 | 5 | 0.97852252252252 | 298 | 13875 | 13717624-13717629, 13727661, 13754324-13754326, 13792289, 13810208-13810215, 13810221-13810335, 13817732, 13830824, 13830833-13830850, 13862739-13862741, 13867992-13867998, 13868100-13868101, 13871007-13871010, 13871046, 13894872, 13900408, 13900412, 13901466-13901474, 13901483, 13901487-13901492, 13916457-13916564 |
| 976 | ANKH | 5 | 0.99661933739013 | 5 | 1479 | 14769252-14769256 |
| 977 | FAM134B | 5 | 0.80522088353414 | 291 | 1494 | 16479065-16479066, 16483465-16483495, 16616761-16616787, 16616790-16616795, 16616818-16616860, 16616864-16616876, 16616881-16616884, 16616887-16616891, 16616894-16616916, 16616934-16616936, 16616947-16617080 |
| 978 | SLC45A2 | 5 | 0.99058380414313 | 15 | 1593 | 33944926, 33954584-33954588, 33984408, 33984437, 33984461-33984463, 33984474-33984477 |
| 979 | AMACR | 5 | 0.97214969538729 | 32 | 1149 | 34007878-34007879, 34007884-34007888, 34007903-34007906, 34007929-34007930, 34007935-34007936, 34007942, 34007975-34007976, 34007987-34007990, 34008008-34008017 |
| 980 | NIPBL | 5 | 0.98502673796791 | 126 | 8415 | 36995772, 37007495, 37008769-37008771, 37014844, 37017249-37017251, 37022423-37022425, 37022437-37022446, 37022450, 37022458, 37022466, 37036481-37036483, 37036505-37036536, 37036551-37036557, 37036559-37036564, 37036573, 37036583-37036589, 37048615-37048626, 37048664-37048674, 37048682-37048698, 37048705, 37064061-37064063, 37064072 |
| 981 | LIFR | 5 | 0.99210686095932 | 26 | 3294 | 38482694-38482702, 38482707-38482713, 38489217-38489218, 38490327, 38490359, 38490363, 38506007-38506009, 38506014, 38506152 |
| 982 | OXCT1 | 5 | 0.97376839411388 | 41 | 1563 | 41862773-41862805, 41862818-41862825 |
| 983 | FGF10 | 5 | 0.9585326953748 | 26 | 627 | 44388711-44388736 |
| 984 | ITGA2 | 5 | 0.98195149464185 | 64 | 3546 | 52285299-52285352, 52351978-52351979, 52361699-52361701, 52368998, 52386417, 52386422-52386424 |
| 985 | MOCS2 | 5 | 0.99625468164794 | 1 | 267 | 52405554 |
| 986 | ERCC8 | 5 | 0.96977329974811 | 36 | 1191 | 60186757, 60186817, 60186821, 60186824, 60198323, 60200625-60200638, 60200645-60200646, 60200653, 60200677-60200684, 60240801-60240802, 60240810, 60240822, 60240825, 60240835 |
| 987 | NDUFAF2 | 5 | 0.93725490196078 | 32 | 510 | 60448576-60448606, 60448728 |
| 988 | SMN2 | 5 | 0.92203389830508 | 69 | 885 | 69345530, 69362945-69362961, 69366552, 69366568, 69372350-69372398 |
| 989 | SMN2 | 5 | 0.93898305084746 | 54 | 885 | 70220931-70220963, 70238369-70238385, 70241977, 70241993, 70247811-70247812 |
| 990 | MCCC2 | 5 | 0.98936170212766 | 18 | 1692 | 70883281-70883283, 70883307-70883320, 70883349 |
| 991 | HEXB | 5 | 0.8850987432675 | 192 | 1671 | 73981086-73981173, 73981190-73981257, 73981262-73981271, 73981281-73981282, 73981337-73981342, 73981345-73981362 |
| 992 | AP3B1 | 5 | 0.9531202435312 | 154 | 3285 | 77311343, 77311346-77311350, 77311363, 77406084, 77411972-77412015, 77458680-77458705, 77461462-77461467, 77461490, 77461493-77461496, 77521409-77521410, 77524006, 77536722, 77536741, 77536745-77536757, 77563344, 77563347, 77563371-77563415 |
| 993 | ARSB | 5 | 0.80524344569288 | 312 | 1602 | 78280760-78281071 |
| 994 | VCAN | 5 | 0.99892061623001 | 11 | 10191 | 82786188-82786192, 82786194, 82808075, 82808081-82808082, 82808098, 82836259 |
| 995 | RASA1 | 5 | 0.93352417302799 | 209 | 3144 | 86564306-86564310, 86564320-86564321, 86564324, 86564332-86564337, 86564340, 86564408, 86564536-86564566, 86564707-86564710, 86669980-86670137 |
| 996 | MEF2C | 5 | 0.99789029535865 | 3 | 1422 | 88024345, 88024348, 88119566 |
| 997 | GPR98 | 5 | 0.98847841023202 | 218 | 18921 | 89854713-89854717, 89914984-89914998, 89918430, 89924641, 89924644, 89925155-89925160, 89925180-89925182, 89925185, 89925197-89925203, 89925270, 89931058-89931059, 89933603, 89933624, 89933627-89933628, 89968381-89968388, 89971968-89971971, 89971981-89971984, 89981633, 89981641, 89981652, 89981672, 89981699-89981704, 89981708-89981710, 89981716, 89981731-89981754, 90004679, 90007036-90007042, 90008200, 90008203, 90020731-90020733, 90020923, 90025472, 90025534-90025540, 90040888-90040889, 90049391-90049413, 90049554-90049558, 90049567, 90049628, 90052280-90052282, 90052336-90052337, 90074354-90074363, 90085609-90085612, 90124808, 90124815, 90124931-90124933, 90144506-90144510, 90144556-90144576, 90144605-90144612, 90149974, 90445978-90445980, 90445983 |
| 998 | PCSK1 | 5 | 0.99115826702034 | 20 | 2262 | 95729007-95729009, 95729014-95729019, 95729027-95729030, 95733070-95733073, 95733083, 95733086-95733087 |
| 999 | WDR36 | 5 | 0.98249299719888 | 50 | 2856 | 110428189, 110428192, 110434434-110434454, 110436310-110436316, 110436322, 110436381, 110438088, 110439575, 110448806, 110459505-110459511, 110459551, 110459828, 110459848, 110459880, 110461371, 110462482-110462484 |
| 1000 | APC | 5 | 0.99941397093296 | 5 | 8532 | 112090592, 112128212, 112128215-112128217 |
| 1001 | HSD17B4 | 5 | 0.99864314789688 | 3 | 2211 | 118788281, 118835133-118835134 |
| 1002 | ALDH7A1 | 5 | 0.98333333333333 | 27 | 1620 | 125890023, 125930853-125930878 |
| 1003 | LMNB1 | 5 | 0.87677455990914 | 217 | 1761 | 126113201-126113313, 126113327-126113333, 126113377-126113380, 126113410-126113415, 126113428-126113509, 126113529-126113530, 126141320-126141321, 126141330 |
| 1004 | FBN2 | 5 | 0.97288019224168 | 237 | 8739 | 127610322-127610323, 127614434, 127614448-127614456, 127614495, 127614498, 127614501-127614506, 127614517-127614524, 127625618, 127641269-127641275, 127645009-127645013, 127645706-127645750, 127645790-127645794, 127680088-127680091, 127680103-127680106, 127702070-127702071, 127702101-127702102, 127702112-127702115, 127702119-127702123, 127730867-127730868, 127873051-127873107, 127873118-127873156, 127873169-127873173, 127873189-127873190, 127873196-127873209, 127873222, 127873233, 127873245-127873246, 127873252, 127873256 |
| 1005 | SLC22A5 | 5 | 0.91636798088411 | 140 | 1674 | 131705665-131705693, 131705726, 131705737, 131705742, 131705772, 131705786-131705802, 131705821-131705830, 131705842-131705846, 131705852-131705858, 131705864, 131705868-131705876, 131705879-131705890, 131705905, 131705913-131705920, 131705926-131705955, 131705960, 131706056-131706057, 131721137-131721140 |
| 1006 | TGFBI | 5 | 0.95175438596491 | 99 | 2052 | 135364745-135364789, 135364811-135364812, 135364820, 135364823-135364852, 135364859-135364867, 135364875-135364876, 135382161-135382166, 135382988, 135382999, 135388599, 135392355 |
| 1007 | MYOT | 5 | 0.93987975951904 | 90 | 1497 | 137221737-137221752, 137221759-137221781, 137221784, 137221803-137221805, 137221854-137221875, 137221878-137221888, 137222932, 137222935-137222944, 137222951, 137222965, 137223026 |
| 1008 | SIL1 | 5 | 0.99134199134199 | 12 | 1386 | 138282919-138282922, 138282931, 138283065, 138287498-138287503 |
| 1009 | MATR3 | 5 | 0.99174528301887 | 21 | 2544 | 138643129, 138643159-138643161, 138643168, 138643183-138643185, 138651801, 138651842, 138651852-138651854, 138651858, 138658509, 138658512-138658514, 138658630-138658632 |
| 1010 | SRA1 | 5 | 0.9789029535865 | 15 | 711 | 139930422-139930431, 139930442-139930446 |
| 1011 | DIAPH1 | 5 | 0.9133280963603 | 331 | 3819 | 140896520-140896522, 140896526-140896530, 140908472, 140908481-140908485, 140953088, 140953234-140953273, 140953296-140953364, 140953374-140953375, 140953381, 140953386-140953387, 140953390-140953391, 140953412, 140953415-140953586, 140958702, 140998389, 140998418-140998419, 140998422-140998427, 140998430, 140998450-140998454, 140998471-140998481 |
| 1012 | POU4F3 | 5 | 0.96558505408063 | 35 | 1017 | 145719166, 145719179, 145719323, 145719381, 145719387-145719391, 145719489-145719500, 145719527-145719534, 145719556, 145719558-145719562 |
| 1013 | PPP2R2B | 5 | 0.99924924924925 | 1 | 1332 | 146077559 |
| 1014 | ADRB2 | 5 | 0.99355877616747 | 8 | 1242 | 148207251, 148207416-148207422 |
| 1015 | SH3TC2 | 5 | 0.99818981122317 | 7 | 3867 | 148407056, 148407388-148407391, 148407708-148407709 |
| 1016 | PDE6A | 5 | 0.99574138598529 | 11 | 2583 | 149240492, 149240500-149240502, 149283227-149283233 |
| 1017 | SLC26A2 | 5 | 0.9990990990991 | 2 | 2220 | 149361168-149361169 |
| 1018 | TCOF1 | 5 | 0.97635445362718 | 103 | 4356 | 149737310-149737319, 149737322-149737326, 149737376-149737383, 149737391, 149737395-149737400, 149737411, 149737416-149737417, 149748408-149748413, 149748427-149748440, 149753816, 149753819, 149754920-149754921, 149754927-149754930, 149755095, 149755098-149755102, 149755107, 149755111, 149755348, 149755352, 149755355-149755358, 149755362, 149755854-149755871, 149776088, 149776116-149776119, 149776125, 149776129-149776131 |
| 1019 | GM2A | 5 | 0.99828178694158 | 1 | 582 | 150647012 |
| 1020 | SGCD | 5 | 0.99655172413793 | 3 | 870 | 156186309-156186311 |
| 1021 | NIPAL4 | 5 | 0.92291220556745 | 108 | 1401 | 156887219-156887264, 156887272-156887308, 156887320-156887321, 156887325-156887329, 156887331-156887337, 156887344, 156887347-156887348, 156887354, 156887357-156887363 |
| 1022 | IL12B | 5 | 0.99898682877406 | 1 | 987 | 158749410 |
| 1023 | GABRG2 | 5 | 0.98772609819121 | 19 | 1548 | 161495084-161495092, 161495097-161495098, 161495101, 161530914-161530920 |
| 1024 | NKX2-5 | 5 | 0.86564102564103 | 131 | 975 | 172659689-172659691, 172659720-172659721, 172659830, 172659892-172659940, 172660050-172660052, 172660105, 172660116, 172660126-172660156, 172661818-172661827, 172661859-172661868, 172661876, 172661885, 172661890, 172661893, 172661896-172661905, 172661909, 172661970-172661974 |
| 1025 | MSX2 | 5 | 0.83706467661692 | 131 | 804 | 174151736-174151745, 174151758-174151763, 174151766, 174151769-174151774, 174151791-174151800, 174151806-174151807, 174151810-174151811, 174151824, 174151832-174151840, 174151846-174151848, 174151851-174151877, 174151885-174151906, 174151914-174151945 |
| 1026 | NSD1 | 5 | 0.99221357063404 | 63 | 8091 | 176618910-176618956, 176694717, 176710857-176710867, 176721053-176721056 |
| 1027 | F12 | 5 | 0.97079037800687 | 17 | 582 | 176830298, 176830308, 176830314-176830315, 176830360-176830367, 176830372-176830376 |
| 1028 | F12 | 5 | 0.93614718614719 | 118 | 1848 | 176830298, 176830308, 176830314-176830315, 176830360-176830367, 176830372-176830376, 176830531-176830532, 176830537, 176830542-176830547, 176830565-176830568, 176830883-176830906, 176830910-176830913, 176830987-176831031, 176831075, 176831249, 176831256-176831257, 176831500-176831509, 176831623 |
| 1029 | PROP1 | 5 | 0.99706314243759 | 2 | 681 | 177422848, 177422855 |
| 1030 | NHP2 | 5 | 0.995670995671 | 2 | 462 | 177580705, 177580769 |
| 1031 | GRM6 | 5 | 0.81397114654518 | 490 | 2634 | 178413301, 178413947, 178415982, 178416014-178416016, 178416023-178416042, 178421447-178421460, 178421464-178421468, 178421501-178421945 |
| 1032 | SQSTM1 | 5 | 0.83219954648526 | 222 | 1323 | 179247937-179248141, 179260136-179260145, 179260150-179260156 |
| 1033 | FLT4 | 5 | 0.92888563049853 | 291 | 4092 | 180030345-180030350, 180038333-180038339, 180038350, 180038352, 180038359-180038363, 180038373, 180038376, 180038451, 180038461, 180045806-180045816, 180045893-180045920, 180046027, 180046030, 180046044-180046066, 180046072-180046077, 180046099-180046109, 180046319-180046359, 180047888, 180047953-180047971, 180048163-180048164, 180048664-180048703, 180051047-180051061, 180057020-180057028, 180057034, 180076488-180076545 |
| 1034 | FOXC1 | 6 | 0.3158844765343 | 1137 | 1662 | 1610681-1610684, 1610706-1610707, 1610735-1610804, 1610822-1610880, 1610935, 1610958-1611013, 1611042-1611078, 1611085-1611093, 1611100-1611113, 1611130-1611147, 1611156-1611161, 1611178-1611218, 1611269-1612074, 1612142, 1612146-1612157, 1612167 |
| 1035 | TUBB2B | 6 | 0.87817638266069 | 163 | 1338 | 3225035, 3225138-3225149, 3225225-3225236, 3225244-3225249, 3225272, 3225337, 3225361-3225362, 3225367, 3225378-3225417, 3225426-3225496, 3225565, 3225571, 3225579-3225580, 3225602, 3227721-3227724, 3227729, 3227732-3227736, 3227741 |
| 1036 | DSP | 6 | 0.99477715877437 | 45 | 8616 | 7542158-7542188, 7542226-7542229, 7542257-7542260, 7585942-7585945, 7585960, 7585967 |
| 1037 | TFAP2A | 6 | 0.9779299847793 | 29 | 1314 | 10398809, 10404761-10404770, 10404791-10404800, 10404811-10404812, 10410292, 10410341, 10410348-10410351 |
| 1038 | GCM2 | 6 | 0.99934253780408 | 1 | 1521 | 10877473 |
| 1039 | DTNBP1 | 6 | 0.93560606060606 | 68 | 1056 | 15533472, 15533475-15533476, 15627620-15627624, 15651567, 15651581-15651583, 15663045-15663100 |
| 1040 | ATXN1 | 6 | 0.92851307189542 | 175 | 2448 | 16306884, 16327497-16327500, 16327504, 16327514, 16327535, 16327585, 16327594-16327603, 16327847-16327958, 16327961, 16327995-16328024, 16328384-16328392, 16328419-16328422 |
| 1041 | NHLRC1 | 6 | 0.8493265993266 | 179 | 1188 | 18122106-18122107, 18122129, 18122233, 18122410-18122444, 18122468-18122472, 18122520-18122529, 18122545-18122573, 18122613, 18122616, 18122646-18122690, 18122706-18122731, 18122797-18122819 |
| 1042 | ALDH5A1 | 6 | 0.8615664845173 | 228 | 1647 | 24495261, 24495264, 24495274-24495485, 24495496-24495499, 24495521-24495527, 24495529-24495530, 24495541 |
| 1043 | ZFP57 | 6 | 0.991930477964 | 13 | 1611 | 29640326-29640330, 29640582-29640589 |
| 1044 | HLA-H | 6 | 0.84666666666667 | 115 | 750 | 29855805-29855885, 29855966, 29856330, 29856338-29856347, 29856353-29856365, 29856415-29856422, 29856427 |
| 1045 | NEU1 | 6 | 0.96955128205128 | 38 | 1248 | 31829940-31829949, 31829959-31829964, 31830506-31830518, 31830524, 31830527-31830534 |
| 1046 | TNXB | 6 | 0.90565059616382 | 182 | 1929 | 31976391-31976396, 31976899, 31976916, 31976926, 31977388-31977394, 31977525-31977555, 31977835-31977841, 31977994-31978002, 31978113-31978124, 31978251-31978266, 31978498-31978517, 31979422-31979432, 31979443-31979483, 31979628-31979637, 31979936, 31979942, 31980130-31980136 |
| 1047 | CYP21A2 | 6 | 0.94153225806452 | 87 | 1488 | 32006200-32006217, 32006226-32006233, 32006250-32006252, 32006264, 32006269, 32006279-32006280, 32006337, 32006579-32006582, 32006886, 32007170, 32007846-32007852, 32008183-32008201, 32008354, 32008706, 32008712, 32008719, 32008724-32008725, 32008893-32008907 |
| 1048 | TNXB | 6 | 0.96095529892372 | 497 | 12729 | 32009126-32009144, 32009631-32009664, 32010123-32010139, 32010269-32010275, 32010569-32010575, 32010728-32010736, 32010847-32010858, 32010989-32010999, 32011232-32011261, 32012276-32012310, 32012322-32012337, 32012478-32012488, 32012790, 32012796, 32012984-32012990, 32014205, 32015540, 32016243-32016244, 32016247, 32023909, 32025878, 32029427-32029436, 32032605-32032615, 32032626-32032630, 32035473-32035479, 32035493-32035499, 32038155, 32038158, 32040030, 32040034-32040035, 32063575-32063576, 32063867-32063877, 32063929, 32063934-32063956, 32063963-32063967, 32064056, 32064108, 32064113-32064122, 32064132, 32064144-32064151, 32064154-32064166, 32064213-32064216, 32064227-32064264, 32064304-32064306, 32064313-32064326, 32064367-32064377, 32064388, 32064399, 32064417-32064435, 32064518-32064527, 32064543-32064568, 32064590-32064596, 32064607-32064610, 32064619-32064626, 32064684, 32064690-32064692, 32064695, 32064972 |
| 1049 | HLA-DQA1 | 6 | 0.92447916666667 | 58 | 768 | 32605236-32605237, 32605257, 32605274, 32605284, 32605295, 32605309, 32609169, 32609173, 32609181, 32609216, 32609219-32609222, 32609231-32609241, 32609286, 32609299, 32609312, 32609749, 32610005-32610012, 32610387-32610406 |
| 1050 | HLA-DQB1 | 6 | 0.52798982188295 | 371 | 786 | 32628022, 32629124-32629173, 32629190-32629213, 32629779-32629805, 32629843, 32629847, 32629852-32629859, 32629865-32629872, 32630025, 32632575-32632672, 32632685-32632760, 32632762-32632764, 32632770, 32632774, 32632779-32632791, 32632795, 32632801-32632809, 32632815-32632844, 32634283-32634287, 32634300-32634303, 32634306, 32634313, 32634318, 32634341, 32634369, 32634371-32634374 |
| 1051 | COL11A2 | 6 | 0.9316829783151 | 356 | 5211 | 33131501-33131523, 33132631, 33132634-33132635, 33132652, 33132666-33132669, 33135215-33135225, 33135230, 33135245-33135253, 33135622, 33138110-33138156, 33138348-33138353, 33139490-33139531, 33139535-33139536, 33139539, 33139547-33139567, 33139827-33139846, 33140066-33140068, 33140074-33140077, 33140088-33140147, 33140153-33140155, 33140370-33140378, 33140383-33140386, 33140405-33140414, 33141320, 33141655-33141678, 33141682-33141692, 33143387, 33159976-33160009 |
| 1052 | SYNGAP1 | 6 | 0.84771825396825 | 614 | 4032 | 33388042-33388108, 33393575-33393680, 33400560-33400563, 33400568-33400573, 33403057-33403082, 33405805-33405813, 33405816-33405818, 33405829, 33409136, 33410706, 33410898-33410929, 33410951-33410960, 33410974-33411015, 33411134, 33411176, 33411308-33411324, 33411420-33411427, 33411442-33411707, 33411720-33411730, 33419542, 33419643 |
| 1053 | FANCE | 6 | 0.90068280571074 | 160 | 1611 | 35420323-35420431, 35420438-35420443, 35420449-35420450, 35420465-35420473, 35420475-35420476, 35420484-35420487, 35420496-35420502, 35420512, 35420542, 35420547, 35420554-35420556, 35420567-35420568, 35423585, 35423591, 35423869, 35425342-35425349, 35425368, 35426124 |
| 1054 | TULP1 | 6 | 0.96746470227133 | 53 | 1629 | 35478652-35478654, 35479463, 35479532-35479535, 35479957-35479991, 35480000, 35480004-35480007, 35480014-35480016, 35480019, 35480022 |
| 1055 | LHFPL5 | 6 | 0.99848484848485 | 1 | 660 | 35773454 |
| 1056 | MOCS1 | 6 | 0.98744113029827 | 24 | 1911 | 39874281-39874290, 39874298-39874304, 39874715, 39874723, 39874728-39874730, 39874734-39874735 |
| 1057 | GUCA1A | 6 | 0.9950495049505 | 3 | 606 | 42141501, 42141505, 42141508 |
| 1058 | GUCA1B | 6 | 0.9983416252073 | 1 | 603 | 42156321 |
| 1059 | PRPH2 | 6 | 0.97886647454371 | 22 | 1041 | 42666061, 42672153-42672160, 42672167-42672173, 42672193-42672197, 42672212 |
| 1060 | PEX6 | 6 | 0.87393815834183 | 371 | 2943 | 42946099-42946129, 42946355-42946372, 42946406-42946437, 42946454, 42946458-42946471, 42946477-42946484, 42946521-42946525, 42946528, 42946534-42946535, 42946548-42946555, 42946579-42946829 |
| 1061 | CUL7 | 6 | 0.99509515401216 | 25 | 5097 | 43008327-43008333, 43008339, 43008342-43008344, 43008350-43008351, 43008728-43008729, 43008803-43008804, 43016143, 43016146-43016151, 43018889 |
| 1062 | RSPH9 | 6 | 0.89530685920578 | 87 | 831 | 43612845-43612847, 43612852, 43612858, 43612861, 43612867-43612872, 43612880, 43612901-43612914, 43612916-43612919, 43612968-43612998, 43613038-43613062 |
| 1063 | RUNX2 | 6 | 0.85185185185185 | 232 | 1566 | 45390330-45390536, 45390644, 45390647, 45480005-45480008, 45480026, 45480058-45480068, 45480089-45480093, 45514862, 45514865 |
| 1064 | CD2AP | 6 | 0.99791666666667 | 4 | 1920 | 47541921, 47563645, 47563692, 47573932 |
| 1065 | MUT | 6 | 0.9751442521083 | 56 | 2253 | 49403269-49403271, 49403282, 49409553-49409564, 49409571, 49409590-49409591, 49409629-49409631, 49409639, 49409669, 49409673, 49409676-49409678, 49409684, 49419315, 49419320, 49421328-49421338, 49421341-49421347, 49421374, 49421423-49421425, 49423940-49423941, 49423948 |
| 1066 | PKHD1 | 6 | 0.99795501022495 | 25 | 12225 | 51484047, 51484050, 51484071, 51484133-51484139, 51497395, 51618002, 51618005, 51618010, 51799113-51799120, 51824819-51824820, 51927380 |
| 1067 | EYS | 6 | 0.98378378378378 | 153 | 9435 | 64498055, 64940559-64940563, 64940572-64940580, 65016929, 65149128, 65523291-65523306, 65523324-65523356, 65523419-65523459, 65596643, 66005817, 66005839, 66005843, 66053959-66053968, 66054069-66054070, 66063462, 66115189-66115205, 66200542-66200544, 66204612-66204620 |
| 1068 | LMBRD1 | 6 | 0.96611213801602 | 55 | 1623 | 70410717-70410750, 70410761, 70506705-70506709, 70506717, 70506723-70506724, 70506732-70506741, 70506754, 70506758 |
| 1069 | COL9A1 | 6 | 0.99963846710051 | 1 | 2766 | 70966504 |
| 1070 | RIMS1 | 6 | 0.92833234888758 | 364 | 5079 | 72596733-72596773, 72596783-72596784, 72806813-72806814, 72806830, 72806833-72806835, 72806841, 72806844-72806846, 72889541-72889544, 72889547, 72892029-72892033, 72892058-72892068, 72892083-72892091, 72892108-72892118, 72892142, 72892264-72892267, 72892284, 72892289-72892313, 72892316-72892317, 72892320-72892322, 72892342-72892389, 72892402-72892411, 72892417-72892421, 72892427-72892433, 72892444-72892454, 72892460-72892465, 72892484-72892494, 72892497, 72892511-72892514, 72892519-72892521, 72892524-72892536, 72892545-72892546, 72892549, 72892560, 72892579-72892602, 72892639, 72892691-72892708, 72892784, 72892793-72892797, 72892836-72892852, 72943534, 72945422-72945425, 72945428-72945429, 72952100, 72952117, 72974697, 72974723, 72974735, 72974747-72974748, 73001691, 73108719-73108722, 73108725, 73108746-73108763, 73108771, 73108774-73108775, 73108780, 73108794-73108796 |
| 1071 | SLC17A5 | 6 | 0.93615591397849 | 95 | 1488 | 74331657, 74363516-74363609 |
| 1072 | MYO6 | 6 | 0.99896319336444 | 4 | 3858 | 76551047, 76602375, 76602378, 76602386 |
| 1073 | LCA5 | 6 | 0.99331423113658 | 14 | 2094 | 80196851, 80196854-80196856, 80196880-80196884, 80202337, 80223273, 80228469-80228471 |
| 1074 | ELOVL4 | 6 | 0.9968253968254 | 3 | 945 | 80656990-80656992 |
| 1075 | BCKDHB | 6 | 0.95165394402036 | 57 | 1179 | 80816430, 80878611-80878614, 80878617, 80878623-80878630, 80878640, 80880999-80881004, 80881062-80881097 |
| 1076 | SLC35A1 | 6 | 0.98816568047337 | 12 | 1014 | 88182728-88182730, 88182735, 88218249-88218256 |
| 1077 | RARS2 | 6 | 0.99827288428325 | 3 | 1737 | 88228571, 88231204, 88231241 |
| 1078 | NDUFAF4 | 6 | 0.9375 | 33 | 528 | 97338980-97338990, 97339102-97339103, 97339133, 97339154-97339159, 97339162-97339170, 97339189-97339192 |
| 1079 | SIM1 | 6 | 0.9986962190352 | 3 | 2301 | 100868709, 100897272, 100901686 |
| 1080 | PDSS2 | 6 | 0.9975 | 3 | 1200 | 107780288, 107780295-107780296 |
| 1081 | SEC63 | 6 | 0.94480946123522 | 126 | 2283 | 108194066, 108194076, 108194091-108194093, 108197857-108197866, 108243093-108243096, 108279107-108279213 |
| 1082 | OSTM1 | 6 | 0.90547263681592 | 95 | 1005 | 108375787-108375788, 108395543, 108395575-108395579, 108395582, 108395586-108395591, 108395599, 108395643, 108395713, 108395718, 108395738-108395742, 108395760-108395761, 108395764-108395812, 108395815-108395822, 108395837-108395848 |
| 1083 | FIG4 | 6 | 0.99779735682819 | 6 | 2724 | 110112654-110112659 |
| 1084 | WISP3 | 6 | 0.99910634495085 | 1 | 1119 | 112389451 |
| 1085 | COL10A1 | 6 | 0.99167890357318 | 17 | 2043 | 116441745, 116441748, 116441997-116441999, 116442294, 116442349, 116442363-116442369, 116443070, 116443075, 116443115 |
| 1086 | RSPH4A | 6 | 0.99721059972106 | 6 | 2151 | 116938382-116938386, 116938439 |
| 1087 | GJA1 | 6 | 0.98955613577023 | 12 | 1149 | 121768922-121768928, 121769109, 121769112-121769115 |
| 1088 | LAMA2 | 6 | 0.99049449962619 | 89 | 9363 | 129419444-129419450, 129465074, 129465183, 129465186, 129475748-129475754, 129513906-129513907, 129513928, 129513937, 129513951-129513953, 129635856, 129635876-129635885, 129635914-129635916, 129635940, 129670459-129670496, 129670520-129670523, 129670525-129670529, 129674422, 129674425, 129704311 |
| 1089 | ARG1 | 6 | 0.99896800825593 | 1 | 969 | 131904227 |
| 1090 | ENPP1 | 6 | 0.8963282937365 | 288 | 2778 | 132129176-132129279, 132129288-132129293, 132129307, 132129309-132129313, 132129317-132129325, 132129332-132129379, 132129399, 132171185-132171190, 132176106-132176112, 132203485-132203584, 132204842 |
| 1091 | EYA4 | 6 | 0.990625 | 18 | 1920 | 133767866-133767873, 133769265-133769268, 133769271-133769272, 133769275-133769276, 133777720, 133783604 |
| 1092 | AHI1 | 6 | 0.99693678641047 | 11 | 3591 | 135715977, 135759628-135759636, 135763755 |
| 1093 | PEX7 | 6 | 0.83024691358025 | 165 | 972 | 137143804-137143933, 137167216, 137167247-137167257, 137167261-137167280, 137167298, 137167311, 137167318 |
| 1094 | PEX3 | 6 | 0.98484848484848 | 17 | 1122 | 143792107-143792110, 143792121-143792127, 143792130, 143792133-143792137 |
| 1095 | PLAGL1 | 6 | 0.9992816091954 | 1 | 1392 | 144263574 |
| 1096 | STX11 | 6 | 0.69907407407407 | 260 | 864 | 144507783-144507818, 144507840-144507842, 144507904-144507950, 144507981-144508022, 144508076-144508082, 144508095-144508146, 144508379-144508427, 144508436-144508442, 144508605-144508608, 144508612-144508613, 144508618-144508628 |
| 1097 | EPM2A | 6 | 0.70381526104418 | 295 | 996 | 145948801-145948805, 145948809, 146056334-146056604, 146056617-146056634 |
| 1098 | IYD | 6 | 0.9735632183908 | 23 | 870 | 150719241-150719263 |
| 1099 | SYNE1 | 6 | 0.99454421459423 | 144 | 26394 | 152461200, 152469476, 152472795, 152477168-152477170, 152532695, 152532698-152532700, 152545669-152545672, 152545678, 152545682-152545688, 152545698, 152552633, 152553303, 152553306, 152558025-152558032, 152558037-152558043, 152583257-152583263, 152599380-152599381, 152615200, 152615209-152615213, 152630993-152630995, 152631013-152631014, 152631083, 152631086, 152642398-152642400, 152642403-152642405, 152644681-152644692, 152644730-152644739, 152658135-152658142, 152665261, 152665271, 152679669, 152680555-152680562, 152690225, 152702444, 152712416, 152725393, 152725396, 152725446, 152730699, 152749368-152749377, 152749424, 152749428, 152749433, 152757097, 152757151, 152763297, 152763303, 152763311, 152784613, 152786510-152786517 |
| 1100 | PARK2 | 6 | 0.96351931330472 | 51 | 1398 | 161969940-161969987, 162683613-162683615 |
| 1101 | TBP | 6 | 0.86176470588235 | 141 | 1020 | 170871007-170871109, 170871117-170871136, 170871164-170871181 |
| 1102 | LFNG | 7 | 0.59385964912281 | 463 | 1140 | 2559496-2559905, 2564870-2564873, 2564890, 2564898, 2565098-2565134, 2565153, 2565914, 2565917, 2566024-2566027, 2566030, 2566033, 2566036 |
| 1103 | PMS2 | 7 | 0.97759752800309 | 58 | 2589 | 6013045-6013052, 6013149-6013156, 6022479-6022481, 6022487-6022488, 6022619-6022622, 6026439, 6026595-6026601, 6026955-6026963, 6026988, 6027002, 6029455, 6038791-6038792, 6045526, 6048628-6048637 |
| 1104 | TWIST1 | 7 | 0.37766830870279 | 379 | 609 | 19156402, 19156547-19156572, 19156576-19156587, 19156589, 19156593-19156594, 19156608-19156944 |
| 1105 | DNAH11 | 7 | 0.98364279398762 | 222 | 13572 | 21582897-21582935, 21582986, 21583017-21583025, 21583031, 21583039, 21583045, 21583048-21583054, 21583060-21583066, 21583069, 21583175-21583176, 21583197-21583214, 21630536-21630541, 21630574, 21630632, 21630635-21630637, 21630915-21630921, 21630928, 21630931-21630940, 21631035-21631043, 21631053, 21631056-21631060, 21654882, 21678568-21678576, 21678592-21678603, 21805156, 21893947-21893965, 21893974-21894021, 21894049 |
| 1106 | FAM126A | 7 | 0.99425287356322 | 9 | 1566 | 22985208-22985216 |
| 1107 | KLHL7 | 7 | 0.9954571266326 | 8 | 1761 | 23213815-23213822 |
| 1108 | DFNA5 | 7 | 0.98189134808853 | 27 | 1491 | 24742426-24742441, 24745952-24745953, 24747861-24747869 |
| 1109 | HOXA1 | 7 | 0.98710317460317 | 13 | 1008 | 27134923-27134924, 27135317-27135319, 27135340, 27135403-27135404, 27135409-27135413 |
| 1110 | HOXA13 | 7 | 0.53041988003428 | 548 | 1167 | 27238859, 27238910, 27238913-27238917, 27238925-27238926, 27239080, 27239097, 27239101-27239115, 27239134-27239165, 27239207-27239696 |
| 1111 | GARS | 7 | 0.97747747747748 | 50 | 2220 | 30634574-30634602, 30634644-30634646, 30634649-30634650, 30634653-30634657, 30634661, 30634668, 30634680, 30634683-30634685, 30634752-30634754, 30649235, 30651800 |
| 1112 | GHRHR | 7 | 0.98584905660377 | 18 | 1272 | 31008694-31008711 |
| 1113 | RP9 | 7 | 0.77027027027027 | 153 | 666 | 33136970, 33148833-33148984 |
| 1114 | BBS9 | 7 | 0.99249249249249 | 20 | 2664 | 33192429, 33303947-33303950, 33303959-33303966, 33397552-33397553, 33545168, 33545173, 33644581-33644583 |
| 1115 | TXNDC3 | 7 | 0.99830220713073 | 3 | 1767 | 37907441, 37936557-37936558 |
| 1116 | GLI3 | 7 | 0.92199030149694 | 370 | 4743 | 42004644, 42004790-42004793, 42004801, 42005045-42005047, 42005097-42005103, 42005109-42005124, 42005127, 42005148, 42005215-42005221, 42005232-42005237, 42005251-42005253, 42005262-42005273, 42005291-42005298, 42005458-42005459, 42005531-42005574, 42005580-42005687, 42005708-42005741, 42005790-42005795, 42005819-42005826, 42005844-42005846, 42005851-42005876, 42005899-42005920, 42005934-42005949, 42005959, 42005993, 42006000-42006002, 42006012-42006022, 42006026, 42006042, 42006045, 42006071-42006072, 42006082-42006086, 42006089-42006090, 42006179-42006180, 42007439 |
| 1117 | GCK | 7 | 0.96002855103497 | 56 | 1401 | 44185166, 44185170, 44185174, 44185181-44185185, 44185195, 44185217-44185245, 44186080-44186093, 44187324, 44192951-44192953 |
| 1118 | CCM2 | 7 | 0.94681647940075 | 71 | 1335 | 45039933-45039962, 45113895-45113927, 45113987-45113994 |
| 1119 | DDC | 7 | 0.998613998614 | 2 | 1443 | 50597000, 50597004 |
| 1120 | EGFR | 7 | 0.96614368290669 | 123 | 3633 | 55086971-55087058, 55214362, 55220280-55220282, 55220288-55220290, 55220293-55220297, 55220299, 55220301, 55229240, 55229243-55229248, 55240791-55240803, 55249005 |
| 1121 | GUSB | 7 | 0.95449897750511 | 89 | 1956 | 65439317-65439320, 65439657-65439669, 65445279, 65446961-65446983, 65446993-65447031, 65447162-65447170 |
| 1122 | ASL | 7 | 0.92831541218638 | 100 | 1395 | 65551757, 65553794-65553826, 65553887, 65554078-65554086, 65554095, 65554110, 65554130-65554162, 65554301-65554307, 65554318-65554322, 65557835, 65557838, 65557841, 65557844-65557848, 65557862 |
| 1123 | KCTD7 | 7 | 0.83448275862069 | 144 | 870 | 66094052-66094195 |
| 1124 | SBDS | 7 | 0.98406374501992 | 12 | 753 | 66456158-66456164, 66460277-66460281 |
| 1125 | NCF1 | 7 | 0.93454545454545 | 54 | 825 | 72639983-72639989, 72640033-72640039, 72643704-72643710, 72644230-72644236, 72648725-72648750 |
| 1126 | FKBP6 | 7 | 0.9989837398374 | 1 | 984 | 72742627 |
| 1127 | ELN | 7 | 0.94390804597701 | 122 | 2175 | 73442518-73442529, 73442536-73442574, 73442593, 73457002-73457008, 73457015-73457016, 73457032-73457036, 73462845-73462849, 73466266-73466271, 73466277, 73466281-73466286, 73471991, 73471994-73471995, 73471998, 73477658-73477660, 73477663, 73477666-73477667, 73477674-73477681, 73480274, 73480277, 73480280, 73480283, 73481091-73481106 |
| 1128 | NCF1 | 7 | 0.76555839727195 | 275 | 1173 | 74193639-74193672, 74202410-74202432, 74202903-74202924, 74202935-74203048, 74203383-74203444, 74203455, 74203464-74203466, 74203489-74203504 |
| 1129 | POR | 7 | 0.94126284875184 | 120 | 2043 | 75583470, 75614097-75614098, 75614101-75614105, 75614210-75614252, 75614265, 75614268-75614273, 75614426-75614485, 75614509, 75615162 |
| 1130 | HSPB1 | 7 | 0.76699029126214 | 144 | 618 | 75932034-75932039, 75932061-75932067, 75932086-75932093, 75932168-75932183, 75932195-75932196, 75932204-75932210, 75932251, 75932254-75932292, 75932299-75932310, 75932352, 75932356, 75933439-75933482 |
| 1131 | CD36 | 7 | 0.98590556730092 | 20 | 1419 | 80285981-80285989, 80285995, 80286000, 80286008-80286012, 80302123-80302126 |
| 1132 | HGF | 7 | 0.98399634202103 | 35 | 2187 | 81399244-81399274, 81399284-81399287 |
| 1133 | ABCB4 | 7 | 0.99088541666667 | 35 | 3840 | 87031437-87031439, 87031442-87031456, 87031479, 87035640-87035643, 87074275, 87074278-87074279, 87104702-87104703, 87104715, 87104722-87104727 |
| 1134 | AKAP9 | 7 | 0.99019106107131 | 115 | 11724 | 91603081-91603083, 91609603, 91609613-91609621, 91609635, 91609641, 91609646-91609647, 91630256, 91645530, 91674397, 91682111-91682113, 91682223-91682226, 91690670-91690702, 91691624-91691626, 91691630, 91694552-91694553, 91694563, 91694575-91694579, 91694767-91694770, 91714911, 91726457, 91726515, 91732084-91732119 |
| 1135 | KRIT1 | 7 | 0.98733604703754 | 28 | 2211 | 91851234-91851240, 91852173, 91852187, 91852204-91852210, 91852213-91852215, 91867005-91867006, 91867038, 91867045, 91867048, 91867051-91867053, 91867058 |
| 1136 | PEX1 | 7 | 0.99195223260644 | 31 | 3852 | 92136367, 92140304, 92140309, 92157626-92157628, 92157637, 92157640, 92157648-92157653, 92157661-92157667, 92157672-92157680, 92157742 |
| 1137 | COL1A2 | 7 | 0.97098268714948 | 119 | 4101 | 94029599-94029600, 94030899, 94030916, 94030919, 94030931, 94038672-94038673, 94047074-94047077, 94049550-94049551, 94049554, 94049557-94049562, 94049570-94049577, 94049710-94049733, 94049917-94049923, 94049930-94049960, 94052361, 94052410, 94054960-94054967, 94055112, 94055310, 94056500-94056508, 94056511, 94056523, 94056565, 94056569, 94058701-94058703 |
| 1138 | SGCE | 7 | 0.97418879056047 | 35 | 1356 | 94228146, 94248148, 94248154, 94252651, 94252657, 94259056-94259060, 94259070-94259072, 94285302-94285308, 94285383-94285397 |
| 1139 | SLC25A13 | 7 | 0.98129000492368 | 38 | 2031 | 95751292-95751309, 95906574-95906578, 95951254-95951268 |
| 1140 | TFR2 | 7 | 0.91313383208645 | 209 | 2406 | 100218679-100218680, 100224423-100224428, 100224433, 100224437-100224452, 100224512, 100224514, 100224516-100224523, 100224959, 100224977-100224998, 100225010-100225019, 100225021, 100225027, 100230659-100230677, 100230682-100230685, 100230690-100230695, 100230714-100230738, 100230852-100230858, 100230901-100230916, 100230955-100230963, 100231043-100231051, 100231073-100231077, 100231137, 100238616, 100238620-100238631, 100238634, 100238642-100238646, 100238701, 100238704-100238705, 100239103, 100239118-100239132 |
| 1141 | SLC26A5 | 7 | 0.9910514541387 | 20 | 2235 | 103014876-103014882, 103017256, 103017270-103017281 |
| 1142 | RELN | 7 | 0.98727956056664 | 132 | 10377 | 103124203-103124208, 103132432, 103155705, 103155715-103155717, 103185670-103185680, 103191654-103191678, 103205998, 103212669-103212707, 103244816, 103363598-103363600, 103363606-103363615, 103363618-103363622, 103417018-103417021, 103629728-103629733, 103629746, 103629749, 103629753-103629762, 103629800-103629803 |
| 1143 | SLC26A4 | 7 | 0.97994024754588 | 47 | 2343 | 107302202, 107323685-107323693, 107323939-107323975 |
| 1144 | SLC26A3 | 7 | 0.98867102396514 | 26 | 2295 | 107432338-107432360, 107432368, 107432373, 107432379 |
| 1145 | DLD | 7 | 0.99607843137255 | 6 | 1530 | 107556037-107556040, 107557802-107557803 |
| 1146 | IFRD1 | 7 | 0.93805309734513 | 84 | 1356 | 112090782-112090811, 112090824-112090831, 112090834, 112101921-112101922, 112101966-112101971, 112102157-112102191, 112102355, 112112915 |
| 1147 | CFTR | 7 | 0.94665766374072 | 237 | 4443 | 117120159, 117120165, 117171057, 117176642-117176649, 117188713-117188753, 117188759-117188800, 117188847-117188877, 117234987-117234988, 117235003-117235112 |
| 1148 | AASS | 7 | 0.99352750809061 | 18 | 2781 | 121716575, 121716578, 121717950, 121733005, 121755162-121755163, 121769452, 121769457, 121769522-121769527, 121769548, 121769568-121769569, 121769586 |
| 1149 | IMPDH1 | 7 | 0.86166666666667 | 249 | 1800 | 128035302-128035307, 128036669, 128038559-128038562, 128045828-128045919, 128049810-128049955 |
| 1150 | FLNC | 7 | 0.97322083639032 | 219 | 8178 | 128470711-128470718, 128470721, 128470727-128470729, 128470732, 128470784, 128470788-128470789, 128470816-128470840, 128470860-128470909, 128470916-128470919, 128470996-128471004, 128471015-128471021, 128477226, 128477268-128477271, 128477280-128477285, 128477288-128477311, 128477475, 128477569, 128477712, 128477742-128477746, 128478377-128478383, 128478482-128478483, 128480983, 128481334, 128482636-128482668, 128482971, 128489385-128489386, 128494184, 128494588-128494603, 128498158 |
| 1151 | ATP6V0A4 | 7 | 0.94133967499009 | 148 | 2523 | 138394369-138394511, 138437410-138437414 |
| 1152 | BRAF | 7 | 0.95436766623207 | 105 | 2301 | 140434505-140434507, 140481460-140481463, 140507842-140507846, 140507854-140507855, 140507858, 140624377-140624383, 140624385-140624390, 140624401-140624402, 140624406-140624438, 140624462-140624503 |
| 1153 | PRSS1 | 7 | 0.90456989247312 | 71 | 744 | 142459653-142459682, 142460332-142460372 |
| 1154 | CLCN1 | 7 | 0.98483316481294 | 45 | 2967 | 143013423-143013427, 143013430, 143013440, 143020431, 143020435, 143042698, 143042701-143042702, 143042780, 143043320-143043339, 143043343, 143047475-143047480, 143047489-143047492, 143048925 |
| 1155 | CNTNAP2 | 7 | 0.98698698698699 | 52 | 3996 | 145813981-145814006, 145814013, 145814026, 146818122, 147092828, 147092834-147092841, 147092852-147092854, 147844744, 147914475-147914478, 147914487-147914492 |
| 1156 | KCNH2 | 7 | 0.65862068965517 | 1188 | 3480 | 150642455-150642456, 150643976, 150644031-150644059, 150644080-150644083, 150644129-150644135, 150644416-150644438, 150644452-150644497, 150644520-150644525, 150644531-150644535, 150644543-150644602, 150644694-150644849, 150644880-150644938, 150645532-150645538, 150645548-150645549, 150645563, 150645575, 150645587-150645597, 150645604, 150648070, 150648669-150648692, 150648760, 150648880, 150648886, 150648894-150648901, 150648905, 150648908-150648910, 150654563-150654580, 150655150-150655569, 150655587, 150671812-150671814, 150671821-150672029, 150674926-150675001 |
| 1157 | PRKAG2 | 7 | 0.95847953216374 | 71 | 1710 | 151329155-151329224, 151573605 |
| 1158 | SHH | 7 | 0.58891288696904 | 571 | 1389 | 155595594-155596066, 155596102-155596107, 155596117-155596129, 155596147-155596151, 155596155-155596156, 155596176-155596199, 155596202-155596203, 155596206-155596212, 155596222-155596225, 155596237, 155596290, 155596297, 155596341-155596372 |
| 1159 | MNX1 | 7 | 0.2653399668325 | 886 | 1206 | 156798218-156798302, 156798313-156798380, 156798391-156798398, 156798404-156798488, 156798494-156798504, 156799173-156799174, 156799194-156799213, 156799249-156799298, 156802384-156802386, 156802394-156802405, 156802453-156802458, 156802463-156802464, 156802467, 156802507-156802514, 156802520-156803044 |
| 1160 | CLN8 | 8 | 0.931475029036 | 59 | 861 | 1719504, 1719507-1719511, 1719519-1719526, 1728642-1728686 |
| 1161 | MCPH1 | 8 | 0.99003189792663 | 25 | 2508 | 6264189-6264210, 6302118, 6302760, 6479086 |
| 1162 | GATA4 | 8 | 0.63355906696764 | 487 | 1329 | 11565822-11565825, 11565834-11565841, 11565844-11565857, 11565874-11565886, 11565903-11565905, 11565908, 11565912-11565918, 11565940-11565948, 11565954, 11565957, 11565970-11565971, 11565974, 11565992-11566410, 11607678-11607680, 11607693 |
| 1163 | TUSC3 | 8 | 0.89207258834766 | 113 | 1047 | 15397940-15397956, 15397970-15398044, 15398065-15398077, 15508245, 15519691-15519697 |
| 1164 | ASAH1 | 8 | 0.98063973063973 | 23 | 1188 | 17915073, 17924739, 17941491-17941499, 17941506, 17941521-17941531 |
| 1165 | LPL | 8 | 0.99509803921569 | 7 | 1428 | 19810857-19810860, 19810870, 19810874, 19810879 |
| 1166 | SFTPC | 8 | 0.99158249158249 | 5 | 594 | 22020971, 22020975, 22021486, 22021495, 22021517 |
| 1167 | NEFL | 8 | 0.93872549019608 | 100 | 1632 | 24813131-24813132, 24813135, 24813140, 24813159-24813160, 24813163-24813164, 24813179-24813180, 24813226-24813227, 24813236, 24813306-24813307, 24813323, 24813400-24813409, 24813417-24813421, 24813430, 24813437-24813443, 24813460-24813462, 24813470, 24813528, 24813537-24813540, 24813561-24813573, 24813579-24813589, 24813599-24813605, 24813660-24813667, 24813672, 24813689-24813695, 24813707-24813708, 24813944, 24814002, 24814005 |
| 1168 | CHRNA2 | 8 | 0.96666666666667 | 53 | 1590 | 27320637-27320644, 27320858-27320867, 27320871, 27320874, 27320963-27320969, 27321026-27321032, 27321056-27321064, 27321067, 27321075-27321083 |
| 1169 | ESCO2 | 8 | 0.9811738648948 | 34 | 1806 | 27660843-27660872, 27660899-27660902 |
| 1170 | FGFR1 | 8 | 0.99756394640682 | 6 | 2463 | 38271153, 38271524-38271528 |
| 1171 | ADAM9 | 8 | 0.98739837398374 | 31 | 2460 | 38854613, 38854622-38854624, 38854662-38854663, 38854669-38854679, 38871502-38871509, 38876421, 38880822, 38959436-38959439 |
| 1172 | ANK1 | 8 | 0.96856340007025 | 179 | 5694 | 41530253-41530258, 41551547, 41554012, 41566434, 41566448, 41573250-41573261, 41575136, 41575656-41575661, 41575670-41575672, 41581116, 41581119-41581121, 41583408, 41583414-41583421, 41583428-41583429, 41583432-41583436, 41583441, 41753873-41753998 |
| 1173 | THAP1 | 8 | 0.95794392523364 | 27 | 642 | 42693209-42693213, 42693216-42693217, 42693224-42693242, 42693259 |
| 1174 | HGSNAT | 8 | 0.93763102725367 | 119 | 1908 | 42995640-42995757, 43025810 |
| 1175 | RP1 | 8 | 0.99459125328388 | 35 | 6471 | 55533633-55533635, 55533655-55533675, 55533895, 55533900-55533901, 55533906, 55533910-55533915, 55533940 |
| 1176 | CHD7 | 8 | 0.98298865910607 | 153 | 8994 | 61654597, 61713046, 61734366-61734409, 61734461-61734464, 61734477, 61734583-61734651, 61734691-61734704, 61748722, 61749416-61749421, 61749514, 61766035-61766040, 61766046, 61778298, 61778301-61778303 |
| 1177 | TTPA | 8 | 0.78614097968937 | 179 | 837 | 63998402-63998580 |
| 1178 | CYP7B1 | 8 | 0.92965154503616 | 107 | 1521 | 65527685-65527704, 65528663, 65711052-65711136, 65711144 |
| 1179 | EYA1 | 8 | 0.9876335019674 | 22 | 1779 | 72184073, 72211307, 72211333-72211337, 72211340, 72211359-72211371, 72246378 |
| 1180 | TMEM70 | 8 | 0.89272030651341 | 84 | 783 | 74888535-74888566, 74888573-74888603, 74888637-74888643, 74888649-74888650, 74888653-74888654, 74888689-74888690, 74888694-74888697, 74888700-74888701, 74888703-74888704 |
| 1181 | CA2 | 8 | 0.95530012771392 | 35 | 783 | 86376311-86376344, 86389472 |
| 1182 | CNGB3 | 8 | 0.99506172839506 | 12 | 2430 | 87588344, 87680313-87680323 |
| 1183 | NBN | 8 | 0.98543046357616 | 33 | 2265 | 90960068-90960072, 90960106-90960115, 90960120, 90996753-90996764, 90996770, 90996780-90996783 |
| 1184 | DECR1 | 8 | 0.99702380952381 | 3 | 1008 | 91029379, 91057154, 91057161 |
| 1185 | TMEM67 | 8 | 0.95281124497992 | 141 | 2988 | 94768083-94768094, 94777800-94777810, 94777830-94777874, 94784875-94784879, 94808152, 94811878-94811917, 94811928-94811930, 94811934-94811938, 94811941, 94822060, 94827552, 94827570, 94827576-94827578, 94827589-94827590, 94827596-94827597, 94827603-94827604, 94828636-94828641 |
| 1186 | GDF6 | 8 | 0.47149122807018 | 723 | 1368 | 97156791-97156808, 97156901-97156950, 97156960-97156962, 97156965, 97156987, 97156990-97156991, 97157010-97157017, 97157038-97157040, 97157083-97157089, 97157101, 97157105, 97157108-97157113, 97157122, 97157129, 97157135-97157648, 97157656-97157671, 97172592, 97172677-97172721, 97172762, 97172824-97172825, 97172829, 97172846-97172847, 97172883-97172920 |
| 1187 | VPS13B | 8 | 0.98732699683175 | 152 | 11994 | 100108564-100108588, 100123336-100123339, 100123343-100123347, 100123350-100123353, 100123388-100123392, 100123428-100123474, 100123495, 100160195, 100168905-100168907, 100286539-100286542, 100513920-100513922, 100513980-100514015, 100514075-100514086, 100515178, 100874132 |
| 1188 | RRM2B | 8 | 0.99905303030303 | 1 | 1056 | 103220361 |
| 1189 | DPYS | 8 | 0.84358974358974 | 244 | 1560 | 105393434-105393440, 105478885-105479109, 105479132-105479141, 105479147-105479148 |
| 1190 | TRPS1 | 8 | 0.998712998713 | 5 | 3885 | 116427196-116427199, 116599450 |
| 1191 | EXT1 | 8 | 0.99955377063811 | 1 | 2241 | 119122636 |
| 1192 | TNFRSF11B | 8 | 0.99170812603648 | 10 | 1206 | 119945252-119945259, 119964037-119964038 |
| 1193 | KIAA0196 | 8 | 0.98965517241379 | 36 | 3480 | 126044563-126044598 |
| 1194 | KCNQ3 | 8 | 0.9331806032837 | 175 | 2619 | 133492442, 133492499-133492500, 133492505-133492514, 133492534-133492543, 133492561-133492568, 133492571-133492573, 133492585, 133492603-133492605, 133492609-133492625, 133492644-133492678, 133492689-133492718, 133492725-133492779 |
| 1195 | TG | 8 | 0.99157337185506 | 70 | 8307 | 133882071, 133899645-133899648, 133920431-133920482, 133920503-133920504, 133920514, 133920518, 133920557, 134031852, 134042170, 134042174, 134042186, 134042191-134042194 |
| 1196 | NDRG1 | 8 | 0.98987341772152 | 12 | 1185 | 134251231, 134266793-134266794, 134274308-134274313, 134274328-134274330 |
| 1197 | SLURP1 | 8 | 0.9775641025641 | 7 | 312 | 143823772-143823778 |
| 1198 | CYP11B1 | 8 | 0.94179894179894 | 88 | 1512 | 143956386, 143956392-143956400, 143956407-143956410, 143956715, 143957128-143957132, 143957207-143957208, 143957222, 143957232-143957236, 143958505-143958533, 143958572-143958602 |
| 1199 | CYP11B2 | 8 | 0.94973544973545 | 76 | 1512 | 143993953-143993961, 143993964-143993968, 143994061-143994081, 143994223-143994225, 143994266, 143994270, 143994279, 143994701-143994705, 143994817, 143996528-143996556 |
| 1200 | PLEC | 8 | 0.65122732123799 | 4902 | 14055 | 144990378-144990382, 144990402-144990411, 144990476-144990493, 144990505-144990510, 144990528, 144990541-144990579, 144990611, 144990729-144990730, 144990742-144990781, 144990831-144990843, 144990859, 144990863, 144990866-144990872, 144990913-144990919, 144991040, 144991059-144991066, 144991176, 144991629, 144991792, 144991889-144991891, 144991962-144991969, 144992074-144992076, 144992084, 144992218-144992227, 144992240-144992270, 144992319-144992320, 144992326, 144992331, 144992341-144992404, 144992410-144992416, 144992439-144992469, 144992547, 144992551, 144992577-144992598, 144992692-144992717, 144992778-144992779, 144992793-144992806, 144992823-144992827, 144992830-144992835, 144992838-144992854, 144992862, 144993039-144993084, 144993186-144993223, 144993311-144993314, 144993324, 144993332-144993334, 144993369-144993372, 144993377-144993387, 144993391, 144993395-144993415, 144993423, 144993473, 144993485-144993488, 144993491, 144993569-144993577, 144993592-144993631, 144993680, 144993704-144993710, 144993721-144993723, 144993727, 144993793-144993815, 144993827-144993839, 144993941-144993946, 144993954-144993969, 144993976-144993982, 144994004, 144994009-144994018, 144994022-144994037, 144994056-144994073, 144994240, 144994335, 144994338, 144994350-144994413, 144994583, 144994595-144994600, 144994629-144994630, 144994634-144994639, 144994741-144994777, 144994959, 144994963-144994965, 144994969-144994970, 144995001-144995066, 144995158, 144995281, 144995288, 144995344-144995364, 144995383-144995397, 144995461, 144995464-144995465, 144995481-144995488, 144995491-144995494, 144995505-144995507, 144995596-144995597, 144995672-144995719, 144995768-144995804, 144995814-144995831, 144995834-144995839, 144995851, 144995944, 144995964, 144995980-144995983, 144995998-144996000, 144996031, 144996039-144996050, 144996109-144996115, 144996159, 144996165-144996198, 144996220-144996295, 144996301-144996331, 144996345-144996355, 144996363-144996410, 144996515-144996518, 144996521-144996559, 144996672-144996704, 144996730, 144996732-144996734, 144996737-144996761, 144996861-144996889, 144996967-144996970, 144996977-144997009, 144997064, 144997075, 144997078, 144997088-144997093, 144997096-144997134, 144997146-144997150, 144997184, 144997215, 144997227, 144997305, 144997394-144997415, 144997425-144997464, 144997468, 144997480-144997543, 144997549-144997587, 144997606-144997613, 144997626-144997629, 144997652, 144997655-144997674, 144997696-144997698, 144997752, 144997756-144997761, 144997767-144998242, 144998260-144998295, 144998310-144998315, 144998332-144998415, 144998418, 144998423-144998490, 144998494-144998503, 144998537-144998584, 144998607, 144998610-144998614, 144998623-144998711, 144998748-144999424, 144999430-144999645, 144999652-144999666, 144999672-144999697, 144999705-144999712, 144999715, 144999734-144999771, 144999775-144999779, 144999782, 144999788, 144999795-144999799, 144999805-144999810, 144999823, 144999834-144999868, 144999904-144999920, 144999928-145000045, 145000048-145000052, 145001203, 145001211, 145001471-145001486, 145001496-145001503, 145001585-145001591, 145001598, 145001604-145001628, 145001636, 145001647-145001688, 145001707-145001733, 145001736, 145001741, 145001751-145001753, 145001757-145001762, 145001772-145001785, 145001848-145001854, 145001873-145001877, 145001889-145001892, 145001900, 145001909, 145002041-145002080, 145002107-145002130, 145003271-145003278, 145003284, 145003289-145003367, 145003373-145003381, 145003389-145003398, 145003404-145003420, 145003431-145003449, 145003582-145003631, 145003640-145003687, 145003814-145003876, 145003927-145003942, 145003957-145003982, 145003994-145003997, 145004166-145004193, 145004204-145004230, 145004312-145004342, 145004359-145004362, 145004365-145004405, 145004412, 145004421-145004423, 145004435, 145004575-145004579, 145004589-145004591, 145004595, 145004639-145004645, 145005725-145005749, 145006131-145006167, 145006186-145006200, 145006299-145006341, 145006349-145006355, 145006374-145006402, 145006568-145006591, 145006605-145006610, 145006624, 145006682-145006686, 145006699-145006702, 145007016-145007037, 145007115, 145007120, 145008168, 145008171-145008183, 145008243-145008259, 145008517, 145008579-145008580, 145009072-145009097, 145010122, 145011204, 145024370-145024375, 145024381-145024386, 145024393-145024394, 145024474-145024498, 145024520-145024527, 145024539-145024571, 145024714-145024716, 145024720-145024721, 145024733-145024734, 145024753-145024760, 145024770-145024771, 145024843-145024874 |
| 1201 | GPT | 8 | 0.69684775318578 | 452 | 1491 | 145730629, 145730646-145730651, 145730673-145730676, 145730685-145730686, 145730692, 145730760-145730765, 145730786, 145730789-145730795, 145730830-145730835, 145730871-145730872, 145731246-145731247, 145731256-145731261, 145731270-145731310, 145731397-145731412, 145731448-145731455, 145731463-145731514, 145731615-145731633, 145731653-145731741, 145731747-145731772, 145731889-145731967, 145731986-145731987, 145732003-145732037, 145732119-145732125, 145732293-145732296, 145732299, 145732302-145732306, 145732325-145732334, 145732370-145732383 |
| 1202 | RECQL4 | 8 | 0.89991728701406 | 363 | 3627 | 145737069, 145737869, 145738127, 145738404, 145738511, 145738519-145738521, 145738629, 145738631-145738651, 145738653, 145738655, 145738659-145738663, 145738724, 145738731-145738733, 145738754, 145738768, 145738770-145738771, 145738789-145738833, 145738860, 145738955-145739003, 145739009-145739010, 145739025, 145739028-145739029, 145739081-145739096, 145739382-145739383, 145739393-145739394, 145739428-145739435, 145739457-145739460, 145741548, 145741736, 145741740, 145742501, 145742538, 145742554-145742558, 145742563, 145742800-145742853, 145742885-145742887, 145742986-145743019, 145743085-145743168 |
| 1203 | DOCK8 | 9 | 0.98412698412698 | 100 | 6300 | 214977-215029, 382581, 382591-382592, 382596, 382600-382601, 407008, 428371-428373, 439381, 452011-452045, 452097 |
| 1204 | VLDLR | 9 | 0.96872616323417 | 82 | 2622 | 2622190-2622271 |
| 1205 | KCNV2 | 9 | 0.85775335775336 | 233 | 1638 | 2717971, 2717981-2717983, 2717986, 2717992-2717998, 2718011-2718012, 2718020-2718028, 2718032, 2718114, 2718154, 2718245-2718284, 2718311, 2718314, 2718361, 2718377, 2718380, 2718382, 2718392-2718399, 2718404-2718405, 2718412-2718413, 2718439-2718443, 2718464, 2718467-2718472, 2718477, 2718498, 2718534, 2718544-2718554, 2718565-2718569, 2718578, 2718596-2718597, 2718600-2718606, 2718669-2718674, 2718679, 2718685-2718700, 2718725-2718733, 2718736-2718737, 2718745, 2718756-2718770, 2718932-2718980, 2718992-2718995, 2718999, 2719002-2719005 |
| 1206 | GLIS3 | 9 | 0.94593626924454 | 151 | 2793 | 3856039-3856049, 3879546, 4117811-4117820, 4117833, 4117855-4117861, 4117930-4117934, 4117945, 4118008-4118021, 4118034, 4118037, 4118041-4118042, 4118056-4118065, 4118076-4118077, 4118080-4118081, 4118093-4118098, 4118104, 4118107-4118111, 4118179-4118185, 4118202, 4118205-4118212, 4118263, 4118266, 4118270-4118274, 4118288-4118292, 4118306-4118308, 4118312, 4118315-4118320, 4118331-4118334, 4118360-4118363, 4118373-4118396, 4118403 |
| 1207 | JAK2 | 9 | 0.98823183289203 | 40 | 3399 | 5066742-5066764, 5069105, 5077479-5077485, 5077530-5077531, 5077540, 5077570, 5080538-5080541, 5080549 |
| 1208 | GLDC | 9 | 0.9454782892589 | 167 | 3063 | 6595019, 6645251, 6645335-6645499 |
| 1209 | CDKN2A | 9 | 0.85562632696391 | 68 | 471 | 21970984, 21971140, 21971143, 21971155-21971161, 21971170-21971174, 21971182, 21971185, 21974704-21974741, 21974765, 21974769-21974774, 21974785-21974790 |
| 1210 | CDKN2A | 9 | 0.72413793103448 | 144 | 522 | 21971140, 21971143, 21971155-21971161, 21971170-21971174, 21971182, 21971185, 21994216-21994225, 21994239, 21994243-21994250, 21994271-21994312, 21994341-21994371, 21994384-21994419 |
| 1211 | TOPORS | 9 | 0.99394518801785 | 19 | 3138 | 32550780-32550790, 32550812-32550818, 32550938 |
| 1212 | APTX | 9 | 0.99514091350826 | 5 | 1029 | 32973540, 32973551-32973554 |
| 1213 | B4GALT1 | 9 | 0.8922305764411 | 129 | 1197 | 33166789, 33166792, 33166802, 33166864-33166871, 33166881-33166883, 33166889-33166894, 33166897-33166906, 33166919, 33166933, 33166937, 33166947, 33166969, 33166978-33166979, 33166997-33167004, 33167027-33167038, 33167049, 33167052, 33167058, 33167063, 33167085-33167145, 33167148-33167154 |
| 1214 | DNAI1 | 9 | 0.99904761904762 | 2 | 2100 | 34506702-34506703 |
| 1215 | GALT | 9 | 0.99912280701754 | 1 | 1140 | 34646755 |
| 1216 | VCP | 9 | 0.99297810821974 | 17 | 2421 | 35072334-35072350 |
| 1217 | FANCG | 9 | 0.99625468164794 | 7 | 1869 | 35078321-35078326, 35079517 |
| 1218 | TPM2 | 9 | 0.99766081871345 | 2 | 855 | 35685304-35685305 |
| 1219 | NPR2 | 9 | 0.98918575063613 | 34 | 3144 | 35792406-35792422, 35792451, 35792570-35792576, 35792626-35792627, 35792630-35792631, 35792638, 35792665, 35792692, 35792752, 35792761 |
| 1220 | GRHPR | 9 | 0.98986828774063 | 10 | 987 | 37422817-37422826 |
| 1221 | FXN | 9 | 0.77567140600316 | 142 | 633 | 71650707-71650724, 71650740-71650863 |
| 1222 | TMC1 | 9 | 0.99255365746824 | 17 | 2283 | 75369770-75369776, 75450868-75450877 |
| 1223 | TRPM6 | 9 | 0.99884659746251 | 7 | 6069 | 77343163-77343169 |
| 1224 | VPS13A | 9 | 0.97469816272966 | 241 | 9525 | 79820229-79820247, 79820900-79820901, 79824359-79824376, 79841401-79841406, 79841417-79841421, 79841431-79841432, 79841500-79841514, 79843055, 79843093, 79843132-79843136, 79843174-79843180, 79896807, 79896810, 79896819-79896842, 79897183, 79897186, 79898352, 79910584-79910586, 79910593-79910641, 79910649, 79922883-79922889, 79922897, 79928915, 79931134, 79931245, 79932538-79932540, 79932593-79932595, 79934493-79934496, 79934499, 79938002, 79938007-79938010, 79938024, 79952238, 79952244-79952245, 79952264, 79952442-79952449, 79959069, 79959103-79959105, 79959109-79959110, 79972665-79972672, 79975462, 79996892-79996898, 79996916-79996919, 79996925, 79996929-79996934, 79996941-79996945 |
| 1225 | AUH | 9 | 0.95 | 51 | 1020 | 94060284, 94087647, 94087684, 94123999-94124007, 94124032-94124034, 94124045-94124046, 94124087-94124089, 94124102-94124105, 94124134-94124140, 94124147-94124150, 94124153-94124157, 94124161-94124171 |
| 1226 | ROR2 | 9 | 0.93608757062147 | 181 | 2832 | 94486315-94486316, 94486695, 94486789, 94495427-94495428, 94495477, 94495491-94495533, 94495554-94495583, 94495694-94495700, 94495713-94495718, 94712149-94712155, 94712165-94712245 |
| 1227 | SPTLC1 | 9 | 0.98945147679325 | 15 | 1422 | 94809495-94809497, 94874779-94874790 |
| 1228 | FBP1 | 9 | 0.99410029498525 | 6 | 1017 | 97365720, 97401461-97401464, 97401467 |
| 1229 | FANCC | 9 | 0.97972570065593 | 34 | 1677 | 97869478-97869479, 97873790-97873820, 97887420 |
| 1230 | PTCH1 | 9 | 0.91942909760589 | 350 | 4344 | 98209655-98209659, 98211419, 98211428-98211434, 98215802, 98239906-98239913, 98239934-98239935, 98239939-98239943, 98268689-98268768, 98268775-98268824, 98268842-98268881, 98270470-98270479, 98270503-98270643 |
| 1231 | HSD17B3 | 9 | 0.9924973204716 | 7 | 933 | 99003158-99003164 |
| 1232 | XPA | 9 | 0.93552311435523 | 53 | 822 | 100459414, 100459435, 100459445-100459451, 100459497-100459540 |
| 1233 | FOXE1 | 9 | 0.11497326203209 | 993 | 1122 | 100616197-100617138, 100617146-100617158, 100617173-100617203, 100617216-100617218, 100617274, 100617280, 100617284-100617285 |
| 1234 | TGFBR1 | 9 | 0.93584656084656 | 97 | 1512 | 101867488-101867584 |
| 1235 | ALG2 | 9 | 0.97761790567546 | 28 | 1251 | 101983915-101983923, 101983927-101983931, 101983942-101983944, 101983950-101983957, 101984090, 101984093-101984094 |
| 1236 | INVS | 9 | 0.98717948717949 | 41 | 3198 | 102988424, 103015274-103015284, 103015357-103015364, 103015367, 103015381, 103046718-103046721, 103046724-103046737, 103046741 |
| 1237 | BAAT | 9 | 0.97852028639618 | 27 | 1257 | 104130506-104130507, 104130513, 104130516-104130518, 104130535-104130555 |
| 1238 | ABCA1 | 9 | 0.99955791335102 | 3 | 6786 | 107588163-107588164, 107588168 |
| 1239 | FKTN | 9 | 0.95815295815296 | 58 | 1386 | 108363439, 108370131-108370152, 108370164-108370171, 108370194-108370214, 108377581, 108380365-108380366, 108382272-108382273, 108382277 |
| 1240 | MUSK | 9 | 0.9992337164751 | 2 | 2610 | 113547821, 113547996 |
| 1241 | DFNB31 | 9 | 0.88069016152717 | 325 | 2724 | 117168994, 117186767, 117186778-117186780, 117186786, 117240858, 117266600, 117266616, 117266646, 117266650, 117266688-117266720, 117266748, 117266767-117266785, 117266797-117266880, 117266885-117266890, 117266911-117267081 |
| 1242 | CDK5RAP2 | 9 | 0.99348820837733 | 37 | 5682 | 123171405-123171433, 123342206-123342212, 123342215 |
| 1243 | GSN | 9 | 0.95019157088123 | 117 | 2349 | 124062145-124062252, 124062275-124062283 |
| 1244 | NR5A1 | 9 | 0.77056277056277 | 318 | 1386 | 127245162-127245173, 127253425, 127253431, 127253476-127253489, 127253499, 127255396, 127262462, 127262544, 127262688-127262724, 127262739-127262751, 127262757-127262779, 127262915-127262918, 127265358, 127265377, 127265386-127265396, 127265406-127265499, 127265573-127265674 |
| 1245 | LMX1B | 9 | 0.65594280607685 | 385 | 1119 | 129376798-129376799, 129376828, 129376831-129376849, 129376854-129376867, 129377662-129377848, 129455524, 129455544, 129455547, 129455550-129455554, 129455557, 129455561-129455576, 129455582-129455602, 129455821-129455823, 129455829-129455830, 129455870-129455871, 129455874-129455875, 129456034-129456035, 129456038, 129456054-129456066, 129456069-129456086, 129456091, 129458164, 129458183-129458237, 129458246-129458261 |
| 1246 | STXBP1 | 9 | 0.97737306843267 | 41 | 1812 | 130374683-130374719, 130416022, 130425613-130425615 |
| 1247 | ENG | 9 | 0.98836621143146 | 23 | 1977 | 130577961, 130578050, 130580550, 130587579, 130587584-130587588, 130587598-130587599, 130587603-130587604, 130616608-130616613, 130616624-130616627 |
| 1248 | GLE1 | 9 | 0.99093943729137 | 19 | 2097 | 131267159-131267163, 131296105-131296118 |
| 1249 | DOLK | 9 | 0.96536796536797 | 56 | 1617 | 131709020-131709032, 131709383-131709402, 131709554, 131709557-131709578 |
| 1250 | TOR1A | 9 | 0.91591591591592 | 84 | 999 | 132586191-132586206, 132586284, 132586294-132586360 |
| 1251 | SETX | 9 | 0.98693054518297 | 105 | 8034 | 135139631, 135139870, 135139873-135139885, 135139887-135139890, 135139899-135139901, 135140038, 135140185-135140188, 135140213-135140214, 135140316-135140318, 135140347, 135153516-135153519, 135153531-135153537, 135153547-135153553, 135153571-135153608, 135158671, 135205125-135205127, 135205130-135205131, 135206775-135206783, 135211822 |
| 1252 | TTF1 | 9 | 0.99705665930831 | 8 | 2718 | 135273617, 135276857-135276863 |
| 1253 | TSC1 | 9 | 0.99456366237482 | 19 | 3495 | 135771942-135771946, 135772047, 135772050, 135772054, 135772907-135772908, 135772913-135772920, 135772924 |
| 1254 | CEL | 9 | 0.75957727873184 | 546 | 2271 | 135937412, 135937434-135937455, 135941983, 135944521-135944527, 135944583-135944589, 135946012-135946018, 135946470, 135946483, 135946486, 135946556-135946582, 135946596-135946636, 135946644-135947073 |
| 1255 | SURF1 | 9 | 0.88925802879291 | 100 | 903 | 136221731, 136221734, 136221776-136221778, 136221781, 136223124-136223139, 136223152-136223175, 136223276-136223329 |
| 1256 | ADAMTS13 | 9 | 0.93580765639589 | 275 | 4284 | 136293754-136293891, 136295068-136295081, 136295087-136295119, 136295178-136295198, 136295202-136295203, 136295210, 136301995-136302004, 136302007, 136302010-136302037, 136302044, 136308542, 136308547, 136308628-136308634, 136308647, 136308652, 136308657-136308658, 136308661-136308663, 136308667, 136320655-136320658, 136321769-136321773 |
| 1257 | DBH | 9 | 0.98435814455232 | 29 | 1854 | 136505003-136505006, 136522235-136522253, 136522279-136522280, 136523516, 136523522, 136523528, 136523532 |
| 1258 | SARDH | 9 | 0.96046427276025 | 109 | 2757 | 136535734-136535739, 136536803-136536804, 136550322-136550360, 136555502, 136561367, 136568073-136568075, 136570079-136570085, 136573412, 136573444, 136597699-136597723, 136599009-136599012, 136599111, 136599114, 136599190-136599203, 136599243, 136599246, 136599267 |
| 1259 | COL5A1 | 9 | 0.96773608845387 | 178 | 5517 | 137534034-137534142, 137623342, 137623467-137623491, 137642395-137642397, 137642727, 137698068, 137703352, 137703355, 137705840-137705844, 137705849-137705850, 137705855-137705858, 137710551-137710554, 137710563, 137716498-137716501, 137716512-137716518, 137716677-137716679, 137726875-137726880 |
| 1260 | LHX3 | 9 | 0.65674110835401 | 415 | 1209 | 139089171-139089183, 139089227-139089230, 139089298, 139089301-139089333, 139089392-139089407, 139089432-139089475, 139089539-139089540, 139090498-139090525, 139090551-139090575, 139090754-139090905, 139091669-139091670, 139091722, 139094792-139094885 |
| 1261 | INPP5E | 9 | 0.67286821705426 | 633 | 1935 | 139324773-139324774, 139324777-139324778, 139326276-139326285, 139326298-139326322, 139326340-139326366, 139326433, 139327009-139327038, 139327665, 139327669, 139327678, 139327681, 139327698-139327703, 139327719, 139329212-139329220, 139333064-139333066, 139333071, 139333120, 139333132-139333133, 139333136, 139333144-139333151, 139333157-139333166, 139333187-139333216, 139333297-139333415, 139333435-139333452, 139333468-139333547, 139333591, 139333630-139333871 |
| 1262 | NOTCH1 | 9 | 0.8641105894627 | 1042 | 7668 | 139390592-139390594, 139390601-139390605, 139390807-139390808, 139390834-139390882, 139390893-139390971, 139390980-139391028, 139391069-139391076, 139391083, 139391098-139391102, 139391207-139391209, 139391237-139391238, 139391322-139391323, 139391329-139391330, 139391392-139391434, 139391487-139391525, 139391537-139391558, 139391567, 139391587, 139391613-139391631, 139391701-139391702, 139391707-139391716, 139391737-139391751, 139391765-139391788, 139391814, 139391829-139391833, 139391847-139391895, 139391904-139391912, 139391924-139392010, 139395034-139395040, 139395068-139395106, 139395137-139395161, 139395287, 139396816-139396817, 139396828, 139396832, 139396846-139396852, 139396861, 139396863-139396872, 139396881-139396920, 139399209-139399249, 139399258-139399282, 139399364-139399365, 139399423-139399446, 139399521-139399539, 139399870-139399907, 139399974-139399999, 139400017-139400026, 139400036, 139400155-139400184, 139400228-139400231, 139400288-139400289, 139400292, 139401043, 139401208, 139401301, 139407483-139407484, 139407846-139407848, 139407852-139407856, 139411789-139411817, 139411824-139411825, 139412655-139412658, 139413908, 139417315-139417317, 139417480-139417504, 139417580-139417587, 139417629-139417630, 139440178-139440238 |
| 1263 | AGPAT2 | 9 | 0.74313022700119 | 215 | 837 | 139571459-139571461, 139571522-139571559, 139571880-139571883, 139571918, 139571941-139571942, 139571947-139571949, 139572000-139572001, 139581648-139581809 |
| 1264 | SLC34A3 | 9 | 0.68666666666667 | 564 | 1800 | 140127056, 140127123-140127155, 140127316-140127318, 140127322, 140127339, 140127346, 140127349, 140127456-140127473, 140127530, 140127706-140127756, 140127772-140127809, 140127852-140127854, 140128085, 140128106-140128110, 140128170-140128174, 140128315-140128393, 140128573-140128637, 140128643-140128645, 140128648, 140128671-140128691, 140128868, 140128883-140128948, 140129132-140129144, 140130445-140130470, 140130491-140130540, 140130558, 140130597, 140130600, 140130671-140130675, 140130680-140130685, 140130708, 140130733-140130775, 140130781-140130790, 140130824, 140130828-140130830, 140130865-140130868 |
| 1265 | EHMT1 | 9 | 0.96125224531691 | 151 | 3897 | 140513481-140513501, 140605445-140605456, 140611176, 140637823-140637824, 140669653-140669657, 140672367, 140706057, 140708888-140708889, 140708939, 140728962, 140728972-140728973, 140729276-140729285, 140729289-140729291, 140729296-140729313, 140729321-140729365, 140729380-140729405 |
| 1266 | SHOX | X | 0.75995449374289 | 211 | 879 | 595432-595461, 595485, 595491, 595513-595520, 595523, 595526-595535, 595555-595559, 605126-605156, 605167-605168, 605190-605191, 605194-605196, 605218-605252, 605262-605280, 605282-605283, 605286-605295, 605298-605303, 605312-605346, 605362-605371 |
| 1267 | ARSE | X | 0.99661016949153 | 6 | 1770 | 2852922, 2852942, 2852949-2852951, 2852967 |
| 1268 | NLGN4X | X | 0.98694410444716 | 32 | 2451 | 5821266-5821270, 5821355-5821371, 5821690-5821696, 5821700, 5947387-5947388 |
| 1269 | KAL1 | X | 0.90455212922173 | 195 | 2043 | 8538590, 8699871-8699881, 8699895-8700077 |
| 1270 | GPR143 | X | 0.86117647058824 | 177 | 1275 | 9709399-9709402, 9709405, 9714157-9714160, 9728782, 9728791, 9728813, 9733608-9733653, 9733662-9733664, 9733667-9733692, 9733699, 9733701-9733702, 9733712-9733762, 9733774-9733807, 9733873-9733874 |
| 1271 | MID1 | X | 0.99051896207585 | 19 | 2004 | 10427713-10427721, 10437764-10437770, 10450625, 10450631, 10450639 |
| 1272 | HCCS | X | 0.99876084262701 | 1 | 807 | 11130210 |
| 1273 | OFD1 | X | 0.9996709443896 | 1 | 3039 | 13754692 |
| 1274 | FANCB | X | 0.99883720930233 | 3 | 2580 | 14861692, 14877373, 14883228 |
| 1275 | CDKL5 | X | 0.99547365017782 | 14 | 3093 | 18616637-18616644, 18646691, 18646701-18646705 |
| 1276 | RS1 | X | 0.98962962962963 | 7 | 675 | 18660147-18660153 |
| 1277 | PDHA1 | X | 0.99914748508099 | 1 | 1173 | 19362210 |
| 1278 | RPS6KA3 | X | 0.96806117858749 | 71 | 2223 | 20179828, 20183079-20183082, 20185781, 20195176, 20195180-20195183, 20204451, 20212385-20212386, 20222158, 20284682-20284714, 20284728-20284750 |
| 1279 | SMS | X | 0.95367847411444 | 51 | 1101 | 21958943-21958991, 21985333, 21995244 |
| 1280 | PHEX | X | 0.99866666666667 | 3 | 2250 | 22231056, 22244607, 22244610 |
| 1281 | ARX | X | 0.44582593250444 | 936 | 1689 | 25022903-25022911, 25022939, 25022957-25022958, 25022964, 25022967-25022973, 25022977-25022990, 25025294-25025414, 25025458-25025459, 25025469-25025473, 25025484-25025499, 25025505-25025507, 25025520-25025525, 25025530, 25031039-25031050, 25031071-25031076, 25031088-25031106, 25031116, 25031147-25031154, 25031157, 25031186-25031451, 25031465-25031898, 25033685 |
| 1282 | IL1RAPL1 | X | 0.99904351984696 | 2 | 2091 | 29973624-29973625 |
| 1283 | NR0B1 | X | 0.81740976645435 | 258 | 1413 | 30326422-30326427, 30326432-30326438, 30326444-30326452, 30326491-30326493, 30326572, 30326615-30326661, 30326669-30326715, 30326743-30326787, 30326836, 30326841, 30326851, 30326906-30326913, 30326991-30326995, 30327001-30327002, 30327008-30327009, 30327106, 30327111, 30327150-30327156, 30327168-30327169, 30327181-30327185, 30327195-30327201, 30327222-30327230, 30327300, 30327305-30327314, 30327319, 30327373-30327374, 30327393-30327419 |
| 1284 | GK | X | 0.98916967509025 | 18 | 1662 | 30718955-30718970, 30718978, 30718981 |
| 1285 | DMD | X | 0.99394103816242 | 67 | 11058 | 31164464-31164466, 31165434-31165436, 31165476, 31165629, 31514907-31514915, 31514918-31514922, 31747845-31747853, 31838136-31838144, 31838154-31838162, 32235075, 32305689, 32383279, 32383310, 32398639-32398650, 32404441, 32509635 |
| 1286 | CYBB | X | 0.99766491535318 | 4 | 1713 | 37660537, 37665688, 37665694-37665695 |
| 1287 | RPGR | X | 0.86412257877999 | 470 | 3459 | 38145289-38145712, 38145748-38145757, 38145760-38145765, 38145781, 38150223-38150224, 38163929, 38163965-38163978, 38163983-38163990, 38182703-38182705, 38186608 |
| 1288 | OTC | X | 0.99342723004695 | 7 | 1065 | 38226624, 38226663-38226666, 38226671-38226672 |
| 1289 | TSPAN7 | X | 0.98 | 15 | 750 | 38546855-38546868, 38546876 |
| 1290 | BCOR | X | 0.98481397114655 | 80 | 5268 | 39921557-39921599, 39923039-39923048, 39923592-39923593, 39923596-39923597, 39923620, 39923633, 39923636-39923638, 39923641, 39923645, 39923650, 39930313, 39933185-39933188, 39933355-39933364 |
| 1291 | ATP6AP2 | X | 0.98575498575499 | 15 | 1053 | 40440318, 40440343-40440354, 40448239-40448240 |
| 1292 | NYX | X | 0.36998616874136 | 911 | 1446 | 41332770-41333577, 41333600-41333606, 41333632-41333669, 41333692-41333694, 41333720-41333722, 41333725, 41333779-41333785, 41333922-41333956, 41333986-41333994 |
| 1293 | CASK | X | 0.99963846710051 | 1 | 2766 | 41782238 |
| 1294 | MAOA | X | 0.99810606060606 | 3 | 1584 | 43592013-43592015 |
| 1295 | RP2 | X | 0.99905033238367 | 1 | 1053 | 46739173 |
| 1296 | UBA1 | X | 0.99338999055713 | 21 | 3177 | 47062077-47062080, 47062104-47062111, 47065689, 47069390, 47069398, 47069401-47069405, 47069410 |
| 1297 | ZNF41 | X | 0.9991452991453 | 2 | 2340 | 47315414-47315415 |
| 1298 | SYN1 | X | 0.59962228517469 | 848 | 2118 | 47433426-47433427, 47433430, 47433433-47433438, 47433470-47433478, 47433490-47433590, 47433600-47433944, 47433953, 47433956-47433969, 47433983, 47434094-47434103, 47434107-47434149, 47434155-47434165, 47478751-47478758, 47478764-47478765, 47478768-47478841, 47478845-47478846, 47478852, 47478855, 47478865-47478869, 47478875-47478880, 47478906-47478915, 47478922-47479005, 47479017-47479127 |
| 1299 | CFP | X | 0.98439716312057 | 22 | 1410 | 47485768, 47485775, 47485791, 47485798-47485804, 47486564-47486565, 47486714, 47487507-47487509, 47488926, 47488973, 47488983-47488986 |
| 1300 | FTSJ1 | X | 0.95959595959596 | 40 | 990 | 48341098, 48341124-48341145, 48341161-48341177 |
| 1301 | PORCN | X | 0.98989898989899 | 14 | 1386 | 48368272, 48368283, 48370764-48370775 |
| 1302 | EBP | X | 0.997113997114 | 2 | 693 | 48382174, 48382319 |
| 1303 | WAS | X | 0.88999337309476 | 166 | 1509 | 48542291-48542294, 48547077-48547088, 48547092, 48547101-48547103, 48547106, 48547109-48547120, 48547123, 48547184-48547226, 48547232-48547233, 48547242-48547255, 48547257-48547278, 48547304-48547305, 48547308-48547314, 48547317, 48547320-48547327, 48547356-48547386, 48547717-48547718 |
| 1304 | GATA1 | X | 0.99436392914654 | 7 | 1242 | 48649655, 48649689-48649692, 48651647, 48651650 |
| 1305 | PQBP1 | X | 0.99874686716792 | 1 | 798 | 48760296 |
| 1306 | SYP | X | 0.96178343949045 | 36 | 942 | 49047964, 49048090-49048091, 49048117-49048124, 49056621-49056645 |
| 1307 | CACNA1F | X | 0.97185709470846 | 167 | 5934 | 49061702, 49061765-49061768, 49074946-49074947, 49074957-49074959, 49074965-49074966, 49075165, 49075169-49075194, 49082491-49082505, 49082509-49082510, 49086765-49086773, 49087053-49087071, 49087325-49087334, 49087346-49087418 |
| 1308 | FOXP3 | X | 0.97608024691358 | 31 | 1296 | 49107802, 49107808-49107812, 49107815, 49107820-49107826, 49108219, 49110459, 49110491-49110492, 49112181, 49114865-49114876 |
| 1309 | CLCN5 | X | 0.99918400652795 | 2 | 2451 | 49807010, 49850656 |
| 1310 | KDM5C | X | 0.98355754857997 | 77 | 4683 | 53222163-53222166, 53222170, 53222175-53222184, 53222187, 53223390, 53223424, 53223595, 53224145, 53224207, 53225134-53225140, 53225896-53225905, 53225921-53225923, 53225993-53226026, 53231048, 53250085 |
| 1311 | SMC1A | X | 0.99864937871421 | 5 | 3702 | 53436046-53436050 |
| 1312 | HSD17B10 | X | 0.99491094147583 | 4 | 786 | 53461277-53461280 |
| 1313 | FGD1 | X | 0.95703395703396 | 124 | 2886 | 54494248, 54494252, 54494255-54494257, 54494340-54494342, 54494347-54494353, 54496800, 54496807, 54496819-54496820, 54496823-54496825, 54496834, 54496843, 54497045, 54497101-54497108, 54497114-54497118, 54497147-54497148, 54521567-54521574, 54521584-54521589, 54521592-54521594, 54521645-54521649, 54521652-54521654, 54521657, 54521660-54521662, 54521741-54521749, 54521782, 54521785-54521795, 54521813-54521815, 54521835-54521865 |
| 1314 | ARHGEF9 | X | 0.99871050934881 | 2 | 1551 | 62857964-62857965 |
| 1315 | AR | X | 0.86283025696706 | 379 | 2763 | 66765120-66765219, 66765225, 66765241, 66765245, 66765256, 66765406-66765445, 66765468-66765474, 66765580-66765582, 66765587-66765591, 66765596-66765612, 66765627, 66765851-66765895, 66765958, 66766009-66766015, 66766028-66766032, 66766181, 66766188-66766204, 66766209-66766215, 66766242-66766259, 66766337-66766339, 66766347-66766402, 66766418-66766444, 66766455-66766469 |
| 1316 | EFNB1 | X | 0.99135446685879 | 9 | 1041 | 68049652-68049658, 68049693, 68049704 |
| 1317 | EDA | X | 0.86904761904762 | 154 | 1176 | 68836153-68836175, 68836185-68836195, 68836201-68836202, 68836206, 68836233-68836254, 68836268-68836316, 68836356-68836384, 68836510-68836518, 68836522, 68836529-68836534, 69253326 |
| 1318 | IGBP1 | X | 0.99901960784314 | 1 | 1020 | 69353806 |
| 1319 | DLG3 | X | 0.89975550122249 | 246 | 2454 | 69665052-69665058, 69665064-69665149, 69665166-69665198, 69665208-69665248, 69665262-69665263, 69665272-69665275, 69665280-69665289, 69665301-69665306, 69665318, 69665329-69665377, 69669652, 69669655, 69669662-69669666 |
| 1320 | MED12 | X | 0.94903581267218 | 333 | 6534 | 70338605-70338703, 70342196, 70345895-70345900, 70345912-70345917, 70345944-70345950, 70348502-70348508, 70349947, 70352023-70352031, 70354247-70354253, 70354255-70354257, 70354272-70354274, 70354942, 70356303-70356307, 70360585-70360587, 70360593-70360603, 70360636-70360641, 70360648-70360700, 70360703-70360704, 70361080-70361117, 70361121, 70361126-70361133, 70361157-70361163, 70361175-70361214, 70361759-70361767 |
| 1321 | NLGN3 | X | 0.99959790912746 | 1 | 2487 | 70389641 |
| 1322 | GJB1 | X | 0.98826291079812 | 10 | 852 | 70444063, 70444222, 70444351-70444354, 70444358-70444360, 70444381 |
| 1323 | TAF1 | X | 0.96356916578669 | 207 | 5682 | 70586165-70586344, 70603900-70603902, 70607227-70607243, 70607251-70607255, 70613967-70613968 |
| 1324 | PHKA1 | X | 0.99618736383442 | 14 | 3672 | 71843094, 71876060-71876063, 71933690, 71933694-71933701 |
| 1325 | SLC16A2 | X | 0.71009771986971 | 534 | 1842 | 73641254-73641618, 73641651-73641676, 73641683-73641685, 73641688-73641690, 73641700-73641758, 73641766, 73641772-73641777, 73641780-73641790, 73641794-73641824, 73641835-73641839, 73641846, 73641849-73641866, 73641898-73641902 |
| 1326 | KIAA2022 | X | 0.99648428916722 | 16 | 4551 | 73961455, 73964259-73964260, 73964263-73964264, 73964270-73964271, 73964278-73964286 |
| 1327 | ABCB7 | X | 0.98850574712644 | 26 | 2262 | 74293538-74293541, 74296359, 74296373, 74375951-74375970 |
| 1328 | ATRX | X | 0.98890225966038 | 83 | 7479 | 76763937-76763941, 76813037, 76814196, 76845365, 76872146-76872148, 76875930-76875967, 76907781-76907786, 76912122, 76912128, 76919005-76919014, 76937583, 76937586-76937588, 76937751-76937754, 76953091-76953093, 76972649, 76972654, 77041485-77041487 |
| 1329 | ATP7A | X | 0.98978458805241 | 46 | 4503 | 77227220, 77227228, 77227231, 77227241-77227248, 77227255, 77258583, 77276490-77276509, 77276552, 77298896-77298907 |
| 1330 | PGK1 | X | 0.99840510366826 | 2 | 1254 | 77369571, 77369597 |
| 1331 | TBX22 | X | 0.98976327575176 | 16 | 1563 | 79277769-79277784 |
| 1332 | BRWD3 | X | 0.97615085967831 | 129 | 5409 | 79943575, 79945309, 79951467-79951471, 79951478-79951480, 79958980-79958984, 79960260-79960262, 79960269-79960276, 79965011-79965017, 79965023-79965027, 79973152, 79991490-79991528, 79991573, 79991580-79991584, 80049144, 80049158-80049159, 80064038-80064041, 80064057-80064063, 80064940-80064970 |
| 1333 | POU3F4 | X | 0.96132596685083 | 42 | 1086 | 82763562, 82763565-82763567, 82763570, 82763573, 82763581-82763595, 82763605-82763608, 82763669-82763672, 82763679-82763686, 82763710-82763714 |
| 1334 | ZNF711 | X | 0.99387576552931 | 14 | 2286 | 84510567, 84519326, 84519337, 84519378, 84519381, 84519388-84519390, 84519395-84519399, 84520201 |
| 1335 | CHM | X | 0.97655453618756 | 46 | 1962 | 85128147, 85128214-85128215, 85166273-85166274, 85166281-85166287, 85166312, 85166329, 85211241, 85211252-85211257, 85211260-85211261, 85211266-85211268, 85211292-85211294, 85211304, 85211318-85211322, 85211329-85211332, 85212921-85212924, 85212931-85212932, 85282537 |
| 1336 | PCDH19 | X | 0.9519056261343 | 159 | 3306 | 99662997, 99663034-99663059, 99663350-99663376, 99663381-99663386, 99663397-99663407, 99663413-99663452, 99663464-99663467, 99663493, 99663496, 99663501-99663502, 99663556-99663595 |
| 1337 | SRPX2 | X | 0.99499284692418 | 7 | 1398 | 99917291-99917292, 99917295-99917299 |
| 1338 | BTK | X | 0.9979797979798 | 4 | 1980 | 100611218-100611220, 100615700 |
| 1339 | GLA | X | 0.99922480620155 | 1 | 1290 | 100655669 |
| 1340 | PLP1 | X | 0.99880095923261 | 1 | 834 | 103042770 |
| 1341 | PRPS1 | X | 0.99895506792059 | 1 | 957 | 106882624 |
| 1342 | COL4A5 | X | 0.99130090945038 | 44 | 5058 | 107812008, 107816836, 107816839-107816840, 107816861-107816863, 107834421, 107834424, 107834427-107834429, 107865991-107865995, 107866004, 107869460-107869461, 107911645-107911657, 107911681, 107911700-107911702, 107939548-107939554 |
| 1343 | ACSL4 | X | 0.99625468164794 | 8 | 2136 | 108902689, 108911481-108911487 |
| 1344 | PAK3 | X | 0.99311531841652 | 12 | 1743 | 110416259-110416262, 110416265, 110416274-110416279, 110416291 |
| 1345 | UPF3B | X | 0.99724517906336 | 4 | 1452 | 118979248-118979251 |
| 1346 | LAMP2 | X | 0.97411003236246 | 32 | 1236 | 119562470, 119590506, 119590509-119590517, 119590533, 119590560-119590578, 119603017 |
| 1347 | CUL4B | X | 0.981765134938 | 50 | 2742 | 119672541-119672542, 119679334, 119694071-119694077, 119694083, 119694324, 119694333, 119694338, 119694341-119694346, 119694354-119694359, 119694369, 119694439-119694461 |
| 1348 | XIAP | X | 0.9946452476573 | 8 | 1494 | 123019516, 123025121-123025127 |
| 1349 | OCRL | X | 0.98152254249815 | 50 | 2706 | 128674421-128674441, 128674446-128674451, 128674728-128674730, 128722176, 128722179-128722188, 128722191-128722199 |
| 1350 | ZDHHC9 | X | 0.99817351598174 | 2 | 1095 | 128945454-128945455 |
| 1351 | GPC3 | X | 0.96959265633964 | 53 | 1743 | 133119351-133119365, 133119380-133119387, 133119394-133119402, 133119406, 133119457-133119476 |
| 1352 | HPRT1 | X | 0.95890410958904 | 27 | 657 | 133594342-133594368 |
| 1353 | SLC9A6 | X | 0.87654320987654 | 260 | 2106 | 135067662-135067679, 135067695-135067700, 135067706-135067723, 135067734, 135067738, 135067744-135067748, 135067789-135067816, 135067824-135067986, 135081091-135081098, 135122245-135122254, 135122257, 135122333 |
| 1354 | FHL1 | X | 0.99074074074074 | 9 | 972 | 135288665-135288673 |
| 1355 | ZIC3 | X | 0.81196581196581 | 264 | 1404 | 136648873, 136648895-136648896, 136648904-136648905, 136648908-136648925, 136648928-136648938, 136648953-136648956, 136648988-136648997, 136649003-136649012, 136649035-136649037, 136649241, 136649247-136649250, 136649260-136649288, 136649378-136649383, 136649388-136649403, 136649464-136649468, 136649562, 136649852, 136651061-136651199, 136651208 |
| 1356 | F9 | X | 0.9992784992785 | 1 | 1386 | 138630650 |
| 1357 | SOX3 | X | 0.28337061894109 | 961 | 1341 | 139585885-139586528, 139586551, 139586563-139586566, 139586578, 139586583, 139586590-139586601, 139586629-139586654, 139586670-139586802, 139586810-139586841, 139586848-139586856, 139586860-139586862, 139586877-139586890, 139586895-139586906, 139586921-139586949, 139587051-139587055, 139587089, 139587092-139587093, 139587102-139587104, 139587107-139587108, 139587186-139587212 |
| 1358 | FMR1 | X | 0.99736703528173 | 5 | 1899 | 146993727, 147014278-147014280, 147027117 |
| 1359 | AFF2 | X | 0.99974593495935 | 1 | 3936 | 148044375 |
| 1360 | MTM1 | X | 0.99944812362031 | 1 | 1812 | 149826327 |
| 1361 | FAM58A | X | 0.88707482993197 | 83 | 735 | 152864437-152864480, 152864483-152864521 |
| 1362 | SLC6A8 | X | 0.74842767295597 | 480 | 1908 | 152954030-152954291, 152958546-152958560, 152958563, 152958567-152958571, 152959629, 152959632, 152959799-152959826, 152959838-152959879, 152959899-152959900, 152960186-152960223, 152960235-152960268, 152960291-152960294, 152960301, 152960313, 152960316-152960319, 152960333-152960344, 152960585, 152960597-152960598, 152960616-152960641 |
| 1363 | ABCD1 | X | 0.81724754244861 | 409 | 2238 | 152990760-152990761, 152990767-152990773, 152990870-152990871, 152990875-152990877, 152990900-152990913, 152990932-152990936, 152991059-152991060, 152991077, 152991086-152991087, 152991098-152991117, 152991124, 152991131-152991133, 152991172-152991211, 152991233, 152991236-152991244, 152991254-152991258, 152991261-152991262, 152991290-152991291, 152991294-152991296, 152991413-152991424, 152991432-152991439, 152991458, 152991461-152991472, 152991514, 152991521-152991523, 152991540-152991541, 152991547, 152991586-152991589, 153006134-153006144, 153008473-153008486, 153008675-153008688, 153008705-153008715, 153008753-153008791, 153008949-153008987, 153009011-153009048, 153009059-153009108, 153009137-153009161 |
| 1364 | L1CAM | X | 0.97482776894542 | 95 | 3774 | 153129450-153129453, 153130586-153130628, 153130757-153130769, 153133310-153133328, 153133343-153133345, 153135603, 153136515-153136517, 153136558-153136560, 153137607, 153141228, 153141272-153141275 |
| 1365 | AVPR2 | X | 0.94534050179211 | 61 | 1116 | 153171146, 153171501, 153171504, 153171511-153171530, 153171689-153171692, 153171699-153171707, 153171751-153171758, 153172053-153172054, 153172062, 153172080-153172084, 153172087, 153172094, 153172097-153172103 |
| 1366 | MECP2 | X | 0.91315965263861 | 130 | 1497 | 153295947-153295951, 153295959-153295968, 153296087-153296106, 153296187-153296216, 153296709-153296711, 153363061-153363122 |
| 1367 | OPN1LW | X | 0.79908675799087 | 220 | 1095 | 153409758-153409773, 153409784-153409826, 153409869, 153416163, 153416247, 153416268-153416269, 153416415, 153418453-153418471, 153418510-153418557, 153420057-153420127, 153420193-153420208, 153424354 |
| 1368 | OPN1MW | X | 0.68858447488584 | 341 | 1095 | 153448167-153448218, 153448232, 153448237, 153448243, 153448274-153448278, 153453261, 153453271, 153453294, 153453326-153453357, 153453378, 153453399-153453400, 153453418-153453511, 153453546, 153455587-153455593, 153455640-153455686, 153457187-153457262, 153457276, 153457323-153457338, 153461484 |
| 1369 | OPN1MW | X | 0.68584474885845 | 344 | 1095 | 153485285-153485336, 153485350, 153485355, 153485361, 153485392-153485396, 153490412, 153490444-153490475, 153490496, 153490517-153490518, 153490536-153490629, 153492701-153492719, 153492750-153492786, 153494305-153494380, 153494394, 153494441-153494456, 153496121, 153496133, 153496160, 153496164, 153498602 |
| 1370 | FLNA | X | 0.95317220543807 | 372 | 7944 | 153577401-153577404, 153577839, 153580617-153580623, 153581485, 153581693, 153581792-153581793, 153583350-153583371, 153583421, 153587715-153587739, 153587952, 153588259-153588261, 153588422-153588427, 153588615-153588617, 153588623-153588624, 153589831, 153591046-153591052, 153592400, 153592405, 153592413, 153592525-153592526, 153593824-153593827, 153593830-153593839, 153594392-153594393, 153599241-153599306, 153599319-153599347, 153599371-153599474, 153599538-153599543, 153599555-153599613 |
| 1371 | EMD | X | 0.77908496732026 | 169 | 765 | 153607845-153607893, 153607907-153607926, 153608050-153608055, 153608061-153608154 |
| 1372 | TAZ | X | 0.92522179974651 | 59 | 789 | 153640181, 153640188-153640219, 153640229-153640251, 153640277-153640279 |
| 1373 | GDI1 | X | 0.95982142857143 | 54 | 1344 | 153665601-153665645, 153668399-153668406, 153671016 |
| 1374 | G6PD | X | 0.89010989010989 | 180 | 1638 | 153760215-153760304, 153760408, 153760455, 153760601-153760634, 153760654, 153775007-153775012, 153775034-153775049, 153775055-153775085 |
| 1375 | IKBKG | X | 0.90437158469945 | 140 | 1464 | 153780279-153780283, 153784421, 153786767, 153788622-153788639, 153788671, 153788684-153788721, 153788733-153788763, 153791062-153791068, 153792556-153792593 |
| 1376 | IKBKG | X | 0.91002044989775 | 44 | 489 | 153868334-153868370, 153869859-153869865 |
| 1377 | DKC1 | X | 0.99935275080906 | 1 | 1545 | 153991249 |
| Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
|---|---|---|---|---|---|---|
| 4 | PCSK9-R237W | het unknown | 0.008 | Dominant pathogenic | Low clinical importance, uncertain | Reported to cause hypocholesterolemia, but observations had no statistical significance and contradicting evidence exists. |
| 4 | PCSK9-V474I | homozygous | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 4 | SCN5A-G615E | het unknown | 0.008 | Dominant pathogenic | High clinical importance, uncertain | Rare, reported to be associated with long-QT syndrome (can cause syncopal spells, sudden death as a teenager / young adult), but observations are scattered may have some publication bias. |
| 2.5 | COL4A1-Q1334H | het unknown | 0.292 | Dominant pathogenic | Low clinical importance, likely | This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%. |
| 2.5 | COL4A1-T555P | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | C3-R102G | het unknown | 0.053 | Complex/Other pathogenic | Moderate clinical importance, likely | This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%. |
| 2.5 | TP53-P72R | homozygous | 0.550 | Unknown pathogenic | Low clinical importance, uncertain | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. |
| 2.5 | MTR-P749S | het unknown | 0.008 | Unknown pathogenic | High clinical importance, uncertain | Unreported, predicted to be damaging. Other recessive missense mutations in this gene cause methylcobalamin deficiency. |
| 2.5 | SP110-M523T | homozygous | 0.319 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | SP110-L425S | homozygous | 0.875 | Unknown pathogenic | Low clinical importance, uncertain | This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect. |
| 2.5 | SP110-G299R | het unknown | 0.822 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | SP110-E207K | het unknown | 0.087 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | SP110-A128V | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | SP110-W112R | homozygous | 0.945 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | NEFL-S472Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 2 | TOR1A-D216H | homozygous | 0.089 | Unknown protective | Low clinical importance, likely | This SNP has been shown to be benign and play a protective role against Dystonia. |
| 2 | ALAD-K59N | het unknown | 0.060 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | CYP2A6-F392Y | homozygous | 0.969 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | CYP2A6-L160H | het unknown | 0.017 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.045 (benign) |
| 1.5 | CYP2C9-R144C | het unknown | 0.027 | Unknown pharmacogenetic | Moderate clinical importance, well-established | This variant, also called CYP2C9*2, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is associated with Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant. |
| 1.5 | TPMT-Y240C | het unknown | 0.037 | Complex/Other pharmacogenetic | Low clinical importance, well-established | Alone, this variant is known as TPMT*3C -- but often, especially in Caucasians, it is found together with another nonsynonymous variant (A154T) to produce the TPMT*3A variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity, although *3C is milder than *3A. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug. |
| 1.25 | RNASEL-D541E | het unknown | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1.25 | RNASEL-R462Q | het unknown | 0.208 | Complex/Other pathogenic | Low clinical importance, uncertain | Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases. |
| 1.125 | WFS1-V333I | homozygous | 0.889 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.125 | WFS1-R611H | homozygous | 0.442 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1.125 | WFS1-V871M | het unknown | 0.023 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | ZNF480-C3Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NPY-L7P | het unknown | 0.019 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.137 (benign) |
| 1 | SLCO1A2-E172D | het unknown | 0.029 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging) |
| 1 | VSIG10L-Q860Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | VSIG10L-R592Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | VSIG10L-N3T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | DSC3-N239S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | ZNF761-L47Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF761-I122S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-V168I | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-G528S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-E603Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | GNB3-G272S | homozygous | 0.027 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.184 (benign) |
| 1 | KCP-K395E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KCP-H313Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF167-N494Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | TLR3-L412F | homozygous | 0.200 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 1 | NPRL3-L489Shift | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | TTN-Q31346H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-V31313I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-I23649T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-A19840P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-S19140L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-R9852H | homozygous | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-G9378R | homozygous | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-S3419N | homozygous | 0.850 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-V3261M | homozygous | 0.840 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-K1201E | homozygous | 0.519 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-E190Shift | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview |
| 1 | PLEKHA2-P389Shift | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | SEBOX-L207S | het unknown | 0.913 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SEBOX-W10Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | POR-A503V | homozygous | 0.227 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | AKAP10-I646V | het unknown | 0.434 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | AKAP10-R249H | het unknown | 0.427 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ADH1B-H48R | homozygous | 0.678 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | DSG2-I293V | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | ALG1L2-L157Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | PIK3R6-L609Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | HNMT-T105I | het unknown | 0.112 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.821 (possibly damaging) |
| 1 | GCKR-Q234P | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.654 (possibly damaging) |
| 1 | GCKR-L446P | homozygous | 0.673 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | GCKR-R540* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 1 | F5-Q534R | homozygous | 0.991 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | MS4A14-I56Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | MS4A14-N177Y | homozygous | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
| 1 | MS4A14-G584R | homozygous | 0.513 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 1 | ALG12-I393V | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | C5orf20-R117* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | C5orf20-N97D | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | C5orf20-T75P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | LDLRAP1-S202P | homozygous | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests |
| 1 | LDLRAP1-R238W | het unknown | 0.016 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests |
| 1 | SEPN1-C108Y | homozygous | 0.789 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SEPN1-N467K | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | AURKA-I57V | homozygous | 0.814 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | AURKA-F31I | het unknown | 0.366 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | DGKK-L1014Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | POMGNT1-M623V | homozygous | 0.878 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | POMGNT1-D556N | het unknown | 0.016 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.882 (probably damaging), Testable gene in GeneTests |
| 1 | ABCC2-Y39F | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ABCC2-V417I | het unknown | 0.195 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 1 | ABCC2-V1188E | het unknown | 0.086 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ABCC2-C1515Y | het unknown | 0.095 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | CUL7-Q813R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | CILP-G1166S | homozygous | 0.766 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CILP-Q979R | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CILP-K575E | homozygous | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CILP-I395T | het unknown | 0.491 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | NR_027127-W61* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | KRTAP7-1-I61S | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-S51P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-Y17Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | TNXB-R48P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | AIM1-Q293P | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | AIM1-E1196A | homozygous | 0.935 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.015 (benign) |
| 1 | ANKK1-A239T | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.852 (probably damaging) |
| 1 | ANKK1-G442R | het unknown | 0.541 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ANKK1-E713K | het unknown | 0.347 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | PADI6-D330N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | RNF207-N573S | homozygous | 0.474 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | RNF207-G603A | homozygous | 0.165 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign) |
| 0.75 | MTHFR-E429A | het unknown | 0.243 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.099 (benign), Testable gene in GeneTests |
| 0.75 | MTHFR-A222V | het unknown | 0.250 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests |
| 0.75 | PRNP-M129V | het unknown | 0.258 | Complex/Other protective | Low clinical importance, well-established | This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. |
| 0.75 | NPC1-I858V | het unknown | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.75 | NPC1-M642I | het unknown | 0.863 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | NPC1-H215R | het unknown | 0.222 | Complex/Other protective | Low clinical importance, likely | This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). |
| 0.625 | SYNE1-G8323A | het unknown | 0.310 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.625 | SYNE1-F7302V | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | SYNE1-L5015M | homozygous | 0.866 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | SYNE1-S4596T | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | SYNE1-L4128Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0.625 | SYNE1-V1035A | het unknown | 0.632 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.625 | MTRR-I49M | het unknown | 0.313 | Recessive pathogenic | Low clinical importance, likely | This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V. |
| 0.625 | MTRR-H622Y | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | BRCA2-N372H | het unknown | 0.230 | Recessive pathogenic | Low clinical importance, uncertain | This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous. |
| 0.625 | BRCA2-V2466A | homozygous | 0.954 | Dominant benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AKAP9-S2186P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CYP3A7-R409T | homozygous | 0.669 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | RELN-S630R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.65 (possibly damaging), Testable gene in GeneTests |
| 0.5 | RELN-E530K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.5 | GATAD1-R233W | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | HLA-DQA1-C34Y | het unknown | 0.547 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-F41S | het unknown | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-A68V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-DQA1-R70K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-DQA1-S75H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-DQA1-G84F | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-R87T | het unknown | 0.170 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-M89I | het unknown | 0.200 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-A92L | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Q152H | het unknown | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-A222T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-DQA1-M230V | homozygous | 0.782 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NOTCH4-C815G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | NOTCH4-T320A | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NOTCH4-D272G | het unknown | 0.277 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NOTCH4-K117Q | het unknown | 0.391 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TNXB-P2731R | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-G2518E | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-H1161R | het unknown | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCB1-S893A | homozygous | 0.625 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | COL1A2-P549A | homozygous | 0.907 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PON1-Q192R | homozygous | 0.572 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | AARS2-V730M | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | AARS2-I339V | homozygous | 0.863 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TULP1-K261N | het unknown | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TULP1-I259T | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TULP1-T67R | homozygous | 0.877 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BCLAF1-S209C | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | BCLAF1-G66A | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | REV3L-T1224I | homozygous | 0.532 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | REV3L-F405Y | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | DNAH11-E34L | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-I214V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-V1023A | homozygous | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T1038A | homozygous | 0.747 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-N2641S | homozygous | 0.367 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-A3474T | homozygous | 0.501 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-M4172V | homozygous | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T4177I | homozygous | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PMS2-K541E | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PEX3-Q82R | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNJ2-D941V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | SYNJ2-E1468G | het unknown | 0.548 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC22A2-S270A | homozygous | 0.876 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | AK125766-L144M | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AK125766-R117H | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AK125766-V114I | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AK125766-R20* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | TXNDC3-C208R | homozygous | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LCA5-L24S | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PGAM2-I114S | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.876 (probably damaging), Testable gene in GeneTests |
| 0.5 | KCNK5-R263W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PHKG1-A47T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SPDYE1-R244H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) | |
| 0.5 | SPDYE1-C278R | het unknown | 0.114 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | PKHD1-Q4048R | het unknown | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-Q3899R | het unknown | 0.546 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-R3842L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-L1870V | homozygous | 0.905 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-A1262V | homozygous | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-R760C | homozygous | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR_024390-W43* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | EYS-R2326Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | EYS-L1748F | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | EYS-L1419S | het unknown | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-L852P | het unknown | 0.655 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-G631S | homozygous | 0.596 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-Q571R | homozygous | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GLI3-T183A | homozygous | 0.663 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC30A8-R325W | het unknown | 0.225 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CFTR-V470M | homozygous | 0.621 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO3A-R319H | het unknown | 0.376 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO3A-A833S | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 0.5 | MYO3A-S956N | het unknown | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO3A-A1032T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.108 (benign), Testable gene in GeneTests |
| 0.5 | MYO3A-T1284S | het unknown | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.5 | MYO3A-R1313S | het unknown | 0.620 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PPYR1-A99S | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.03 (benign) |
| 0.5 | PPYR1-R240C | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.332 (possibly damaging) |
| 0.5 | PPYR1-V276M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.889 (probably damaging) | |
| 0.5 | CHAT-V461M | homozygous | 0.927 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-N1349D | homozygous | 0.772 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-A1572T | homozygous | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CUBN-L2879I | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-S2717W | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-C2162Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-S1935G | het unknown | 0.127 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-P1559S | homozygous | 0.565 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-P389T | het unknown | 0.513 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-F253S | het unknown | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IDI2-W144* | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | POMT1-D411E | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SETX-I1386V | homozygous | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-G1252R | homozygous | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-D1192E | homozygous | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADAMTS13-R7W | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ADAMTS13-A1033T | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.712 (possibly damaging), Testable gene in GeneTests |
| 0.5 | AK094914-K152N | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | AK094914-T33Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | AK094914-C16Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | AK094914-A13Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | COL5A1-P1379S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZMYND17-G343R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | USP54-G1514A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.924 (probably damaging) |
| 0.5 | HABP2-T50M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | PDZD8-N929T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | BAG3-C151R | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ARMS2-A69S | het unknown | 0.294 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COL17A1-D1370G | het unknown | 0.257 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-M703V | homozygous | 0.672 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-G428S | homozygous | 0.771 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-T210M | homozygous | 0.557 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZFYVE27-V82I | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZFYVE27-G138V | homozygous | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYST4-P490S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | ANXA11-R230C | het unknown | 0.382 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CYP2C8-K399R | het unknown | 0.061 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.5 | CYP2C8-R139K | het unknown | 0.078 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.015 (benign) |
| 0.5 | AVPI1-A41G | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AVPI1-L36R | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.924 (probably damaging) |
| 0.5 | ARHGAP19-Q305R | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | SH2D3C-L729F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.86 (probably damaging) |
| 0.5 | SH2D3C-L23F | het unknown | 0.515 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.693 (possibly damaging) |
| 0.5 | CDK5RAP2-V1540L | homozygous | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDK5RAP2-E289Q | homozygous | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCMTD1-R253C | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.036 (benign) |
| 0.5 | PCMTD1-R252* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | PEX2-C184R | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KLHL38-C504Y | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | KLHL38-R346K | homozygous | 0.719 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KLHL38-I334V | homozygous | 0.734 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | KLHL38-H98R | homozygous | 0.786 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.016 (benign) |
| 0.5 | FER1L6-D1110E | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FER1L6-R1720Q | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | RNF5P1-I29Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CHRNA2-T125A | homozygous | 0.644 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLNC-R1860C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.196 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLCN1-G118W | homozygous | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-R171S | homozygous | 0.865 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D314H | homozygous | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D392G | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HR-Q528R | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.293 (possibly damaging) |
| 0.5 | HR-L526P | het unknown | 0.219 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HR-C397Y | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.928 (probably damaging) |
| 0.5 | HR-G337D | het unknown | 0.285 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PCM1-N159S | het unknown | 0.728 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PCM1-M597V | het unknown | 0.733 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | PCM1-R1251H | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | TG-P118L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.5 | TG-S734A | het unknown | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-M1028V | het unknown | 0.696 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | TG-D1838N | homozygous | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
| 0.5 | TG-R1999W | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-W2501R | homozygous | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.031 (benign), Testable gene in GeneTests |
| 0.5 | TG-R2530Q | homozygous | 0.586 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | PLEC-A3171V | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEC-H1459R | het unknown | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEC-A641V | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCA1-L1648V | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCA1-K1587R | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCA1-R219K | het unknown | 0.498 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SVEP1-A2750V | het unknown | 0.441 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SVEP1-D2702G | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | SVEP1-L1648V | het unknown | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SVEP1-M1444L | het unknown | 0.352 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SVEP1-K1416Q | het unknown | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SVEP1-L1330M | het unknown | 0.074 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | SVEP1-I1157V | het unknown | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.907 (probably damaging) |
| 0.5 | SVEP1-K899R | het unknown | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SVEP1-Q581H | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | DFNB31-V783A | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-H752Q | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-M613T | het unknown | 0.487 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-R364H | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASTN2-G791D | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.929 (probably damaging) |
| 0.5 | ALG2-V367A | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALG2-S11P | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAI1-A8S | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | BOP1-D78Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | BOP1-D78Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | RECQL4-S92P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DOCK8-A22V | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 0.5 | DOCK8-P97T | het unknown | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests |
| 0.5 | DOCK8-A597V | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests |
| 0.5 | IFNK-W13Shift | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | IFNK-K133E | homozygous | 0.892 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RLN2-R134L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | ALDH7A1-K439Q | het unknown | 0.072 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HSPA1L-E602K | het unknown | 0.225 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.5 | HSPA1L-T493M | homozygous | 0.868 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.5 | CYP1B1-N453S | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP1B1-V432L | het unknown | 0.547 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GKN2-D65Y | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ATP6V1B1-T30I | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ATP6V1B1-A272V | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ALMS1-S524SP | homozygous | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-V671G | homozygous | 0.857 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-R4029K | homozygous | 0.527 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-D1529E | het unknown | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-K1491R | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-I1461V | homozygous | 0.982 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | C2orf71-T580M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | C2orf71-K421R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | NID1-T733N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.926 (probably damaging) |
| 0.5 | NID1-V246I | het unknown | 0.597 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EDARADD-M9I | homozygous | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OR2C3-Y219Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | OR2C3-P68S | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | OR2C3-T20A | homozygous | 0.931 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HADHB-T2TT | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TAF1B-P272S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | TAF1B-V282I | homozygous | 0.920 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TAF1B-T351A | homozygous | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.588 (possibly damaging) |
| 0.5 | TAF1B-E462D | homozygous | 0.424 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC4A5-H253Y | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests |
| 0.5 | VWA3B-E372* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | VWA3B-L677V | het unknown | 0.700 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VWA3B-R1245K | homozygous | 0.985 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | COL3A1-A698T | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL3A1-H1353Q | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PGAP1-T84M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ALS2-V368M | homozygous | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NBEAL1-T2492A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.889 (probably damaging) | |
| 0.5 | SCN1A-A1056T | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALNT5-R784* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | RANBP2-P780L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests | |
| 0.5 | NPHP1-P39T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.052 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GLI2-D1306N | homozygous | 0.595 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-I6534V | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-A6277P | het unknown | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-R4389T | het unknown | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-W3348C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | NEB-V1491M | homozygous | 0.453 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-Y1301H | homozygous | 0.668 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K1027N | homozygous | 0.476 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MMADHC-V193A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | EPHX1-Y113H | het unknown | 0.290 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | USH2A-I2169T | het unknown | 0.575 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-I2106T | homozygous | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-A125T | het unknown | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRP8-R952Q | het unknown | 0.130 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | L1TD1-V246A | homozygous | 0.554 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | L1TD1-V309M | het unknown | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | L1TD1-K329N | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | L1TD1-L602Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | NEXN-R141H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.977 (probably damaging) |
| 0.5 | ABCA4-H423R | het unknown | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCA4-R212H | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.5 | UROD-Q9H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.662 (possibly damaging), Testable gene in GeneTests |
| 0.5 | KIAA0467-R834H | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | CLCNKB-R27L | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-A287V | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-M562T | homozygous | 0.856 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-C626Y | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-H3256Y | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-R2977W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-N765S | homozygous | 0.896 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-M638V | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EPHA8-G45S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | LEPRE1-M549I | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.424 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SPOCD1-P1089S | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | DPYD-I543V | het unknown | 0.199 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DPYD-R29C | homozygous | 0.731 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DBT-S384G | homozygous | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFH-V62I | het unknown | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFH-H402Y | homozygous | 0.818 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFH-E936D | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFHR1-E175Q | homozygous | 0.518 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-Y2494H | homozygous | 0.992 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CHIT1-V357V* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation, Testable gene in GeneTests |
| 0.5 | MR1-R31H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | MR1-H39R | het unknown | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.922 (probably damaging) |
| 0.5 | MYOC-R76K | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 0.5 | COL11A1-S1547P | homozygous | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KIAA1324-H55Y | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | KIAA1324-I86V | homozygous | 0.988 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FLG-S1865R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-S805F | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SFT2D2-Q132H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | FCRL4-P12S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ABCA12-S777T | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-Q1578R | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-R723K | homozygous | 0.770 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-L1093F | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V1951I | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N1985D | het unknown | 0.259 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-P1987L | het unknown | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-L2004F | het unknown | 0.341 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.841 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-Y2232C | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N2345S | het unknown | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N2584S | homozygous | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-S2764L | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-G3248D | het unknown | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E3471K | homozygous | 0.834 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E3867K | het unknown | 0.356 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E5344G | homozygous | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V5427M | homozygous | 0.918 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V5876I | het unknown | 0.424 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CTSD-A58V | het unknown | 0.067 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FBN2-V965I | homozygous | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC22A4-I306T | het unknown | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SLC22A4-L503F | het unknown | 0.142 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | AP3B1-V585E | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NM_001080479-R585K | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | NM_001080479-R621Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | NM_001080479-H780N | het unknown | 0.213 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NM_001080479-H1640Q | het unknown | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.033 (benign) |
| 0.5 | FAT1-K4059N | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-Q2933P | het unknown | 0.695 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-V1577I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.024 (benign) |
| 0.5 | FAT1-H1273R | het unknown | 0.697 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-R1064G | het unknown | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-V862L | het unknown | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-A647V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | FAT1-F614L | het unknown | 0.685 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-V482I | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-S404R | het unknown | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-V129L | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | DNAH5-L2862F | het unknown | 0.212 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-E1756K | het unknown | 0.008 | Unknown benign | Low clinical importance, uncertain | Probably benign. |
| 0.5 | DNAH5-E758G | het unknown | 0.008 | Unknown benign | Low clinical importance, uncertain | Tentatively evaluated as benign, although predicted to be damaging by Polyphen 2. Other recessive mutations in this gene cause primary ciliary dyskinesia and Kartagener Syndrome (situs inversus, chronic sinusitis, and bronchiectasis), but these are usually more severe (splicing, nonsense, or frameshift). |
| 0.5 | DNAH5-T558A | homozygous | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-G24E | het unknown | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-H12Q | het unknown | 0.896 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IL7R-I66T | het unknown | 0.597 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IL7R-V138I | het unknown | 0.689 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IL7R-T244I | het unknown | 0.150 | Unknown protective | Low clinical importance, likely | The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000). |
| 0.5 | CCDC125-R97* | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | CCDC125-V13M | homozygous | 0.242 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.134 (benign) |
| 0.5 | MOCS2-T50A | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.725 (possibly damaging), Testable gene in GeneTests |
| 0.5 | IL13-Q144R | het unknown | 0.766 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | AX746964-G175Shift | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | AX746964-K166I | het unknown | 0.628 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FLT4-R1321Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALDH5A1-H180Y | homozygous | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZFP57-R187C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TRIM15-S324N | homozygous | 0.155 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | BC040901-C89W | het unknown | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BC040901-P93S | het unknown | 0.548 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BC040901-A106Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | GRM6-A807V | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.418 (possibly damaging), Testable gene in GeneTests |
| 0.5 | ADRB2-G16R | het unknown | 0.477 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | ADRB2-E27Q | het unknown | 0.773 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | SLC26A2-I574T | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MSX2-M129T | homozygous | 0.716 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PROP1-A142T | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PROP1-N20S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HK3-G246D | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | VEGFC-M419Del | homozygous | 0.984 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VEGFC-R61Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | KIAA1109-H826Y | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | KIAA1109-R2222W | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ANO10-R462Q | homozygous | 0.602 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ANO10-R263H | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | SLC6A20-T199M | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | IQCF2-R4Q | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.966 (probably damaging) |
| 0.5 | ITIH1-H881R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | HACL1-I151F | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.967 (probably damaging) |
| 0.5 | IRAK2-S47Y | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | IRAK2-D431E | het unknown | 0.832 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | COL4A4-S1400P | homozygous | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-V1327M | homozygous | 0.464 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-P1004L | het unknown | 0.528 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-G654D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | COL4A4-P482S | homozygous | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-G43R | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-L141P | homozygous | 0.760 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-E162G | homozygous | 0.764 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DIS3L2-P88L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | TTLL3-M502R | het unknown | 0.468 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TTLL3-L615P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.945 (probably damaging) |
| 0.5 | TTLL3-A689T | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.017 (benign) |
| 0.5 | TRPM8-R247T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.926 (probably damaging) | |
| 0.5 | TRPM8-Y251C | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | TRPM8-S419N | het unknown | 0.379 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GBE1-I334V | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GBE1-R190G | het unknown | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TOMM70A-M225V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.987 (probably damaging) |
| 0.5 | EVC-Y258H | homozygous | 0.721 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 0.5 | EVC-T449K | het unknown | 0.871 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EVC-R576Q | het unknown | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.5 | N4BP2-E118K | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.565 (possibly damaging) |
| 0.5 | N4BP2-D611N | homozygous | 0.817 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | N4BP2-S1353R | het unknown | 0.052 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.27 (possibly damaging) |
| 0.5 | N4BP2-G1737R | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ABCG2-Q141K | het unknown | 0.131 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.548 (possibly damaging) |
| 0.5 | ANK2-S3300R | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CFI-T300A | homozygous | 0.957 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DOK7-H113P | homozygous | 0.183 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DOK7-T137I | homozygous | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CPN2-Q509W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | CPN2-Q509W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | RETNLB-P20L | het unknown | 0.154 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.987 (probably damaging) |
| 0.5 | RETNLB-L14Shift | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | SIDT1-Y602C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | UMPS-G213A | het unknown | 0.170 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HTR3E-E22Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | HTR3E-A86T | homozygous | 0.769 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PLSCR1-H262Y | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | PTF1A-S263P | homozygous | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests |
| 0.5 | THBS1-N700S | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | ENO3-V85A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | MYH8-W1692R | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYH8-A636V | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DNAH9-Q445R | homozygous | 0.985 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DNAH9-M604V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | DNAH9-N2195S | het unknown | 0.235 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.174 (benign) |
| 0.5 | DNAH9-D4036N | het unknown | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.031 (benign) |
| 0.5 | DNAH9-M4374I | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.659 (possibly damaging) |
| 0.5 | RAI1-P165T | homozygous | 0.542 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CTNS-T260I | homozygous | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CTNS-P380A | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SHPK-D421E | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SHPK-M413V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | DHODH-K7Q | homozygous | 0.560 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.004 (benign) |
| 0.5 | ZFHX3-K3420R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ZFHX3-Q2014H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.889 (probably damaging) |
| 0.5 | ZFHX3-S72A | het unknown | 0.516 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYBA-Y72H | het unknown | 0.649 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FANCA-T1328A | het unknown | 0.088 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCA-S1088F | het unknown | 0.036 | Unknown benign | Low clinical importance, uncertain | Probably benign. One report hypothesized this variant causing Fanconi Anemia, but the allele frequency (3-7%) is high enough to contradict a highly penetrant pathogenic effect. Later authors have concluded this is a polymorphism, not pathogenic. |
| 0.5 | FANCA-G809D | het unknown | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCA-P643A | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCA-G501S | homozygous | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCA-A412V | het unknown | 0.093 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCA-T266A | het unknown | 0.708 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR179-E57K | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) | |
| 0.5 | COL1A1-T1075A | homozygous | 0.961 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL1A1-P205A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMA3-S2834G | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO5B-L1055LL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | MYO5B-R918H | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO5B-T126A | homozygous | 0.945 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ATP8B1-A1152T | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP8B1-R952Q | het unknown | 0.052 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CD226-S307G | het unknown | 0.423 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | RNMT-F395L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ZNF750-P288L | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
| 0.5 | ZNF750-M235V | homozygous | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.5 | SEPT4-E311V | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.856 (probably damaging) |
| 0.5 | SCN4A-N1376D | homozygous | 0.604 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN4A-S524G | homozygous | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AXIN2-A758T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AXIN2-P50S | homozygous | 0.264 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TSEN54-V190M | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN54-K347N | homozygous | 0.430 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN54-A437V | homozygous | 0.515 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAI2-A558T | homozygous | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HYDIN-E4159Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HYDIN-T4004A | het unknown | 0.432 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-Q3904Shift | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | HYDIN-M3868R | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-V3839L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-V3741I | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-A3738T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-L3315P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-A3290P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-I2693S | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-K2588R | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-D2569N | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-G2557E | het unknown | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-TEKER2520Del | het unknown | 0.644 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-L2501S | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-P2454Q | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-N2444I | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-E2305G | het unknown | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | HYDIN-R2297G | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | HYDIN-Q2275R | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | HYDIN-Q2241R | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-V2098M | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-R2086C | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | HYDIN-R2017H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | HYDIN-I1533V | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-V1228L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HYDIN-I1077V | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.082 (benign) |
| 0.5 | HYDIN-N724D | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | HYDIN-T690A | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | SLC7A6OS-Y220C | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | SLC7A6OS-G45D | homozygous | 0.709 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HEXA-I436V | homozygous | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TMEM202-R23W | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ADAMTSL3-H146R | homozygous | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.5 | ADAMTSL3-L290V | het unknown | 0.833 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ADAMTSL3-V661L | het unknown | 0.711 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ADAMTSL3-T1660I | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HAPLN3-G333W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.5 | CYP19A1-R264C | het unknown | 0.113 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | MGA-P628Q | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | MGA-T716S | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MGA-P1523A | het unknown | 0.260 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | SPTBN5-A3240G | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPTBN5-Q2827R | het unknown | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPTBN5-G2786R | het unknown | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPTBN5-T2678I | het unknown | 0.221 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPTBN5-R1848* | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | SPTBN5-R1310H | het unknown | 0.139 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPTBN5-V1025I | het unknown | 0.201 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPTBN5-C1000R | homozygous | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPTBN5-Q960H | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SPTBN5-H398R | homozygous | 0.870 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PLA2G4D-R807Q | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.976 (probably damaging) |
| 0.5 | PLA2G4D-R783Q | het unknown | 0.054 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.5 | PLA2G4D-A649G | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PLA2G4D-Y627C | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PLA2G4D-R601H | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | PLA2G4D-S434T | het unknown | 0.266 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.064 (benign) |
| 0.5 | PLA2G4D-P275R | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PLA2G4D-P10T | het unknown | 0.080 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.11 (benign) |
| 0.5 | CEP152-L914V | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FBN1-C472Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IQGAP1-M1231I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | NR_027242-N339Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | PRRT2-P216L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | ZNF764-A332V | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.831 (possibly damaging) |
| 0.5 | ZNF764-R52Q | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | SALL1-V1275I | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RANBP10-A570Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | SH2B1-T484A | het unknown | 0.217 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | KIAA0556-R885Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | KIAA0556-A1267T | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ERCC4-I706T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) | |
| 0.5 | ABCC6-R1064W | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-M848V | homozygous | 0.954 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-H632Q | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-V614A | het unknown | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ITPRIPL2-R308H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | IL4R-I75V | het unknown | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | IL4R-P675S | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.967 (probably damaging) |
| 0.5 | PDILT-G529E | het unknown | 0.352 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDILT-R527K | het unknown | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDILT-P415S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PDILT-A26T | het unknown | 0.313 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | REXO1-R214C | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.928 (probably damaging) |
| 0.5 | ZFR2-I718M | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.943 (probably damaging) |
| 0.5 | ZFR2-A577T | het unknown | 0.391 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.5 | TCN2-I23V | het unknown | 0.091 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.008 (benign), Testable gene in GeneTests |
| 0.5 | TCN2-R259P | het unknown | 0.594 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TCN2-S348F | het unknown | 0.115 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TCN2-R399Q | het unknown | 0.077 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests |
| 0.5 | ISX-S28G | homozygous | 0.810 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ISX-R83Q | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ISX-T182M | homozygous | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | EFCAB6-A1059V | homozygous | 0.763 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EFCAB6-H767Y | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | EFCAB6-I761M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.286 (possibly damaging) |
| 0.5 | EFCAB6-R199G | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.971 (probably damaging) |
| 0.5 | ARSE-G424S | homozygous | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-Q620H | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-H601Y | homozygous | 0.807 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-V547M | het unknown | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-L438V | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-E224G | het unknown | 0.779 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TPTE-L470P | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TPTE-K386E | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TPTE-R229* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | PSMF1-F36C | homozygous | 0.747 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PSMF1-R242H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | TGM6-M58V | homozygous | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TGM6-V527E | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | RALGAPA2-E189G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | PCK1-V184L | homozygous | 0.856 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCK1-A548T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LBP-D283G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | MXRA5-L2531V | homozygous | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MXRA5-G2000S | homozygous | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MXRA5-P1665S | homozygous | 0.417 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | MXRA5-G1394D | homozygous | 0.769 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MXRA5-A1128V | homozygous | 0.547 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MXRA5-I824V | homozygous | 0.795 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MXRA5-D222N | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.978 (probably damaging) |
| 0.5 | PIR-R97W | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | RAB40A-H45L | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.907 (probably damaging) |
| 0.5 | H2BFM-Q73* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | RIPPLY1-N121S | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | FATE1-G107D | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.91 (probably damaging) |
| 0.5 | TBX22-E187K | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests |
| 0.5 | ATP7A-E1350K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-R2937Q | homozygous | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR_027444-W159Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | BC112980-K147Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ALAS2-R218C | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ITIH5L-W1041S | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | DEFB126-P106Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ZNF530-T64A | homozygous | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.827 (possibly damaging) |
| 0.5 | ZNF530-H110Q | homozygous | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF530-C493Y | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ICAM1-K469E | het unknown | 0.297 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | NOTCH3-A2223V | homozygous | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NOTCH3-V1952M | het unknown | 0.008 | Unknown benign | Low clinical importance, uncertain | Probably benign. |
| 0.5 | AKAP8-R295C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging) |
| 0.5 | FAM129C-D182Y | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | FAM129C-G603S | homozygous | 0.378 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.101 (benign) |
| 0.5 | ZNF846-Y492C | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | ZNF846-C450Y | het unknown | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF846-H356L | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ZNF562-N301Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ZNF562-G141Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | MPND-R235W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | STXBP2-I526V | homozygous | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FBN3-E2610D | het unknown | 0.632 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FBN3-G1614S | homozygous | 0.195 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FBN3-D662N | homozygous | 0.984 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FBN3-V495Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | FBN3-P329L | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF317-Q19H | homozygous | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | ZNF317-Q19H | homozygous | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | MUC16-V14466L | homozygous | 0.888 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-T13915Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | MUC16-V13167M | homozygous | 0.259 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-V12699I | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MUC16-G12695V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MUC16-A12694P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | MUC16-S12514T | het unknown | 0.616 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-E12448K | het unknown | 0.148 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-V12388I | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MUC16-E12290K | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-T12140M | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-G11455D | het unknown | 0.201 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-A11199G | het unknown | 0.126 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-S11154F | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-V11097M | het unknown | 0.468 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-P10828S | het unknown | 0.205 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-F10169L | het unknown | 0.196 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-T10155I | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-L10013P | homozygous | 0.931 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-I9920T | homozygous | 0.848 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-V9909I | het unknown | 0.392 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-Y9899F | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-D9850E | het unknown | 0.143 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-H9513Q | het unknown | 0.410 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-A9502T | het unknown | 0.483 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-Q9405R | het unknown | 0.199 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-I9213T | homozygous | 0.846 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-D9129E | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-D8344A | het unknown | 0.583 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-N8301T | homozygous | 0.873 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-D7923A | het unknown | 0.184 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-I7272V | het unknown | 0.200 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-I5751T | het unknown | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-H5741D | het unknown | 0.826 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-P5537S | het unknown | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-N5228I | het unknown | 0.796 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-S5045P | het unknown | 0.215 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-I4902V | het unknown | 0.184 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-H4166N | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-T4077S | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-I4034F | het unknown | 0.425 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-G3826E | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-T3788I | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-T3723M | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-R3573H | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-V3530I | het unknown | 0.240 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-K3506T | het unknown | 0.247 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-R3499M | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-S3337L | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-S3215G | het unknown | 0.240 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-S3190T | het unknown | 0.677 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-T2891I | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-T2506A | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-Y1898D | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-K1400N | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC16-K1266N | het unknown | 0.815 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CHST8-R77W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging) |
| 0.5 | FAM187B-W231* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | FAM187B-V216I | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | FAM187B-C160R | het unknown | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ETFB-T245M | het unknown | 0.449 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ETFB-P94Shift | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests |
| 0.5 | FPR1-E346A | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-N192K | het unknown | 0.516 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-V101L | het unknown | 0.336 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-I11T | homozygous | 0.831 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | LILRA5-P293S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.855 (probably damaging) |
| 0.5 | ZSCAN5B-V208I | het unknown | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.07 (benign) |
| 0.5 | ZSCAN5B-P187S | het unknown | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | ZSCAN5B-S8L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) | |
| 0.5 | FUT2-W154* | het unknown | 0.364 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | FUT2-G258S | het unknown | 0.390 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.954 (probably damaging) |
| 0.5 | SIX5-P635S | homozygous | 0.533 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-G1132R | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-V882A | het unknown | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | EGLN2-S58L | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.87 (probably damaging) |
| 0.5 | CYP2B6-Q172H | het unknown | 0.295 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign) |
| 0.5 | CYP2B6-K262R | het unknown | 0.298 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CYP2B6-R487C | het unknown | 0.074 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.005 (benign) |
| 0.5 | ERCC2-K751Q | het unknown | 0.218 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP2A13-R381W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CNOT1-R299Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.907 (probably damaging) |
| 0.5 | BDNF-V148M | het unknown | 0.208 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | HEBP1-E183D | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | PIK3C2G-P129Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | PIK3C2G-P146L | het unknown | 0.330 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PIK3C2G-P911L | het unknown | 0.371 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PIK3C2G-H1227Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ABCC4-G187W | het unknown | 0.070 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SH2B3-W262R | het unknown | 0.768 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | UTP14C-G85V | homozygous | 0.559 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UTP14C-T101A | het unknown | 0.077 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | UTP14C-R319H | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | SORL1-Q1074E | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SORL1-G1258S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | SORL1-V1967I | homozygous | 0.965 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLCO1B3-S112A | homozygous | 0.646 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SLCO1B3-M233I | homozygous | 0.659 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.131 (benign) |
| 0.5 | ATM-N1983S | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1-K192E | homozygous | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1-A547S | het unknown | 0.164 | Complex/Other benign | Low clinical importance, uncertain | Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal. |
| 0.5 | RPGRIP1-E1033Q | homozygous | 0.256 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-T1056P | homozygous | 0.838 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-C1506S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-M1808I | homozygous | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RAG1-R449K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests |
| 0.5 | TEP1-S1195P | homozygous | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-R1055C | homozygous | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-N307K | homozygous | 0.369 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-S116P | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CARS2-T188M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | NR_028064-T138TRAHT | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NR_028064-T138TRAHT | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NR_028064-H92Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | MAP3K11-R730H | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.91 (probably damaging) |
| 0.5 | ATP6V0A2-V420L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-T1381A | homozygous | 0.754 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-Q852R | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PEX16-V116I | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | B3GALTL-E370K | homozygous | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | B3GALTL-V403I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NDUFA9-P294L | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | GJA3-T56I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SLC22A8-I190T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.945 (probably damaging) |
| 0.5 | LRRK2-R50H | homozygous | 0.927 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-S1647T | het unknown | 0.294 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-M2397T | homozygous | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KIAA1704-P197R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | CLECL1-S52Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ATP7B-V1140A | homozygous | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7B-R952K | homozygous | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7B-K832R | homozygous | 0.455 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7B-V456L | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7B-S406A | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR133-S523L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | SDSL-L229Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | RAG2-F386L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.5 | FNDC3A-T1017A | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | SLC7A7-A91V | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.039 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | KRT4-G160GAGGFGAGFGTGGFG | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DCHS1-D2628Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | DCHS1-T2615Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CAPRIN2-M519V | het unknown | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | CAPRIN2-P114S | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SERPINA1-V237A | homozygous | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC9-V734I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCM-I208M | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.548 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO7A-S1666C | homozygous | 0.610 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO7A-L1954I | het unknown | 0.552 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | UBQLNL-W379G | homozygous | 0.956 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UBQLNL-A275V | het unknown | 0.506 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UBQLNL-Y274H | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.966 (probably damaging) |
| 0.5 | UBQLNL-R230G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | UBQLNL-C171R | het unknown | 0.329 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.5 | KRT83-H493Y | het unknown | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT83-I279M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | NM_001080841-R42C | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NM_001080841-R85C | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NM_001080841-R102* | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | LARP4-F351L | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | PACS2-P714L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | SERPINA12-R211* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | CCDC62-T646M | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | CCDC81-H303Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.305 (possibly damaging) | |
| 0.5 | CCDC81-Q551H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) | |
| 0.5 | CCDC81-L558R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.972 (probably damaging) | |
| 0.5 | TTC8-K95R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZFYVE26-N1891S | homozygous | 0.900 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZFYVE26-C1871Y | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZFYVE26-C1457Y | het unknown | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.5 | ZFYVE26-S615F | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests |
| 0.5 | HOXC6-R67W | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ITGA7-R279H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | MRGPRX1-F273L | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.941 (probably damaging) |
| 0.5 | MRGPRX1-A46T | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.033 (benign) |
| 0.5 | MEIS2-H421R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | CCDC34-N298S | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.929 (probably damaging) |
| 0.5 | SYNE2-R1393W | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.54 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-M1969T | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2284V | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-S2359N | homozygous | 0.676 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2395T | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-S2802G | homozygous | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-I2942V | homozygous | 0.622 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-D3253H | homozygous | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-L5186M | het unknown | 0.708 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TENC1-Q938H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | INSC-R36H | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.319 (possibly damaging) |
| 0.5 | INSC-D329N | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | MICALCL-V70I | het unknown | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICALCL-A305T | homozygous | 0.936 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICALCL-S313G | het unknown | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.923 (probably damaging) |
| 0.5 | MICALCL-R671C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | GALC-T641A | homozygous | 0.892 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-I562T | het unknown | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MLH3-P844L | het unknown | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MLH3-N826D | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | HLA-DQB1-D167G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | HLA-DQB1-G157A | het unknown | 0.539 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | HLA-DQB1-G157S | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | HLA-DQB1-V148I | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | HLA-DQB1-D12G | het unknown | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | HPS1-Q604R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | HPS1-P491R | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.983 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.375 | HPS1-R263W | het unknown | 0.008 | Unknown benign | Low clinical importance, uncertain | Rare, tentatively evaluated as benign. Polyphen 2 predicts a damaging effect and other variants in this gene cause Hermansky-Pudlak Syndrome in a recessive manner, but these are generally more serious mutations (nonsense or frameshift). |
| 0.375 | EP300-I997V | het unknown | 0.176 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | EP300-P1910A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | NAT2-I114T | het unknown | 0.220 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.375 | NAT2-R268K | het unknown | 0.675 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | C10orf113-D100H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C10orf113-S22Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | SNX19-L878R | het unknown | 0.808 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | SNX19-N753S | het unknown | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SNX19-L618F | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SNX19-P480L | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.977 (probably damaging) |
| 0.25 | SNX19-G381S | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | SNX19-V361L | het unknown | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ALG9-V289I | het unknown | 0.332 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CYP4F2-V433M | het unknown | 0.216 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.309 (possibly damaging) |
| 0.25 | CYP4F2-W12G | het unknown | 0.058 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | DBH-A318S | het unknown | 0.104 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ITGA6-A380T | het unknown | 0.253 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAN2B1-R337Q | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAN2B1-T312I | het unknown | 0.324 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAN2B1-L278V | het unknown | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CASP10-L522I | het unknown | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MUSK-S159G | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ABCB11-V444A | het unknown | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | DL492456-R148H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | DL492456-Y109C | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | DL492456-W104* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | ZNF224-M118V | homozygous | 0.793 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF224-H162L | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging) |
| 0.25 | ZNF224-K640E | het unknown | 0.593 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | SULT1C4-D5E | het unknown | 0.371 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | DLL3-L218P | het unknown | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NPHS1-E117K | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 0.25 | RGSL1-D106Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | RGSL1-I683V | homozygous | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GREB1-N77T | het unknown | 0.353 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.129 (benign) |
| 0.25 | GREB1-Q256E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | GREB1-A257Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | GREB1-D1687N | homozygous | 0.426 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CALHM1-L86P | het unknown | 1.000 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | KCNQ4-H455Q | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CPT2-V368I | het unknown | 0.477 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | USH1C-E819D | het unknown | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ARSA-T391S | het unknown | 0.423 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ARSA-N350S | het unknown | 0.241 | Unknown benign | Low clinical importance, well-established | This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability. |
| 0.25 | SHANK3-I245T | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KAL1-V534I | het unknown | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL9A2-Q326R | het unknown | 0.403 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SBF2-Q1216E | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | F9-T194A | het unknown | 0.144 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRTAP5-5-A53G | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.25 | KRTAP5-5-A53G | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.25 | KRTAP5-5-G59GGCG | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CDA-K27Q | het unknown | 0.190 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | PINK1-N521T | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BRWD3-K1288R | homozygous | 0.967 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | BRWD3-R102Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | SMPD1-G508R | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALPL-Y263H | het unknown | 0.286 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PNPLA3-I148M | het unknown | 0.268 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.778 (possibly damaging) |
| 0.25 | PNPLA3-K434E | homozygous | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CASQ2-T66A | het unknown | 0.427 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | POLA2-G583R | het unknown | 0.118 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.024 (benign) |
| 0.25 | KCNE1-S38G | het unknown | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MMP9-Q279R | het unknown | 0.477 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | DNAH14-T43S | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | DNAH14-F405L | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | DNAH14-L828V | homozygous | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DNAH14-K1010R | homozygous | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DNAH14-R1011Q | homozygous | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DNAH14-M1110I | homozygous | 0.663 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DNAH14-T1850M | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DNAH14-K1925Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | DNAH14-N2435S | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | DNAH14-D3393E | het unknown | 0.521 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DNAH14-K3474E | het unknown | 0.514 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DNAH14-V3627A | het unknown | 0.514 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DNAH14-R3670K | het unknown | 0.517 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DNAH14-N3969K | homozygous | 0.346 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DNAH14-F4244C | homozygous | 0.513 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KLF11-Q62R | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging), Testable gene in GeneTests |
| 0.25 | ERCC6-G399D | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SPTBN2-H1516R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | SPTBN2-S825G | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | COL6A2-S399N | het unknown | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HMCN1-I2418T | homozygous | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests |
| 0.25 | HMCN1-E2893G | het unknown | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests |
| 0.25 | GBA-K144R | het unknown | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PDE6C-S270T | het unknown | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FCGR3A-F212V | het unknown | 0.818 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | TRIOBP-S217N | het unknown | 0.413 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests |
| 0.25 | TRIOBP-E1372D | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests |
| 0.25 | TNN-A70T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | TNN-R79G | het unknown | 0.533 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TNN-W807R | het unknown | 0.478 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.104 (benign) |
| 0.25 | TNN-P930L | homozygous | 0.565 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.25 | TNN-T941M | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.991 (probably damaging) |
| 0.25 | TNN-Q1074Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | BMPR1A-P2T | het unknown | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYH9-I1626V | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | INHBC-T144Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | INHBC-R322Q | het unknown | 0.064 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.765 (possibly damaging) |
| 0.25 | SFTPC-T138N | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CLN5-R2C | het unknown | 0.158 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SRA1-V110RL | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GPR56-S281R | het unknown | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SH3TC2-A468S | het unknown | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CD19-L174V | het unknown | 0.876 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PALB2-Q559R | het unknown | 0.160 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NIPAL4-R213G | het unknown | 0.505 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TCOF1-P1139R | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | H19-G355R | het unknown | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NR_002144-DDDFE68Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NR_002144-SE75P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NR_002144-L77Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | NR_002144-Y307H | homozygous | 0.858 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LRRC50-K393R | het unknown | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | LRRC50-P502L | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | LRRC50-L659V | het unknown | 0.112 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CPS1-T344A | het unknown | 0.583 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | NR_027336-P160L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NR_027336-W23* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | PKD1L2-M2313I | homozygous | 0.883 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-S2207R | homozygous | 0.985 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-S2137F | homozygous | 0.870 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-L2117I | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Y2079Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PKD1L2-A2054T | het unknown | 0.185 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Y2048S | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-P2045L | homozygous | 0.442 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Q2035R | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-M1866V | homozygous | 0.957 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-G1847R | het unknown | 0.373 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Q1701H | het unknown | 0.294 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-D1632G | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-G1268S | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-P1065R | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | PKD1L2-T1048A | het unknown | 0.679 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Q999H | het unknown | 0.266 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-L711P | homozygous | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-P512L | homozygous | 0.751 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-K416Q | homozygous | 0.788 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-P301A | het unknown | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-R252W | het unknown | 0.560 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-N236Shift | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.25 | PKD1L2-E221G | homozygous | 0.708 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Q220* | het unknown | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.25 | PKD1L2-L173S | het unknown | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-G129D | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Q120L | homozygous | 0.451 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-K77N | het unknown | 0.319 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-W73R | homozygous | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-V20A | homozygous | 0.548 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | VCAN-K1516R | het unknown | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-R1826H | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-F2301Y | het unknown | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-D2937Y | het unknown | 0.352 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | NOS3-D298E | het unknown | 0.844 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | HSD17B4-W511R | het unknown | 0.126 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests |
| 0.25 | HSD17B4-I559V | het unknown | 0.392 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.111 (benign), Testable gene in GeneTests |
| 0.25 | APC-V1822D | het unknown | 0.887 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYH6-V1101A | het unknown | 0.422 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PKD1-A3512V | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL9A1-Q621R | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LMBRD1-D469E | het unknown | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | GATM-Q110H | het unknown | 0.651 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC28A2-P22L | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC28A2-S75R | het unknown | 0.253 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | SPG11-F463S | het unknown | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SOD2-V16A | het unknown | 0.362 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | PLG-D472N | het unknown | 0.151 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | TTBK2-L8P | het unknown | 0.560 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MUT-R532H | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NPSR1-N107I | het unknown | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | MICA-L145V | het unknown | 0.191 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-G198S | homozygous | 0.337 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-I236T | het unknown | 0.570 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-R274Q | het unknown | 0.538 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | SEMA3D-K701Q | het unknown | 0.311 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SEMA3D-S361Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | HLA-H-S182W | het unknown | 0.392 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HLA-H-C238S | het unknown | 0.729 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC28A1-V189I | het unknown | 0.313 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | SLC28A1-Q237K | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC28A1-D521N | het unknown | 0.226 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | EXD2-Q376Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | EXD2-Q393H | het unknown | 0.807 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PEX6-P939Q | het unknown | 0.339 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KIF6-W719R | het unknown | 0.538 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.01 (benign) |
| 0.25 | SPATA7-V74M | het unknown | 0.412 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL11A2-E276K | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | GHR-I544L | het unknown | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.25 | ROR2-V819I | het unknown | 0.798 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ROR2-T245A | het unknown | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DRD3-G9S | het unknown | 0.482 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | C17orf54-C131S | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C17orf54-L161Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | C17orf54-L161Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | COL2A1-G1405S | het unknown | 0.187 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COG1-N392S | het unknown | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BRIP1-S919P | het unknown | 0.652 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TPTE2P1-W112* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | TPTE2P1-I70V | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CNGB3-T298P | het unknown | 0.681 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CNGB3-C234W | het unknown | 0.939 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TMEM67-I604V | het unknown | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ITGB4-L1779P | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL6A3-A3012P | het unknown | 0.843 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL6A3-M2927T | het unknown | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT6B-I365V | het unknown | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CELA1-Q243R | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CELA1-R44W | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CELA1-Q10H | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.463 (possibly damaging) |
| 0.25 | CELA1-Y5P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CELA1-V3Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | KRT6C-R182Q | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | RAX-D44E | het unknown | 0.189 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FLNB-D1157N | het unknown | 0.538 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FLNB-V1471M | het unknown | 0.607 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | GAA-H199R | het unknown | 0.574 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GAA-R223H | het unknown | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GAA-V780I | het unknown | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MMAB-M239K | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FKTN-R203Q | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | EIF2B5-I587V | het unknown | 0.370 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | BANK1-A383T | het unknown | 0.233 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.778 (possibly damaging) |
| 0.25 | BANK1-C650R | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LRRC48-R191W | het unknown | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LRRC48-R444Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | HADH-L86P | het unknown | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | AK298931-E88Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | AK298931-W38* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | AK298931-T4S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NLRP1-M1184V | het unknown | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NLRP1-V1059M | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.25 | NLRP1-L155H | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.064 (benign) |
| 0.25 | BBS12-R386Q | het unknown | 0.515 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ESCO2-A80V | het unknown | 0.147 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HELQ-V306I | het unknown | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | HELQ-E42Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | HELQ-V35E | homozygous | 1.000 | Unknown benign | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | UGT2B7-Y268H | het unknown | 0.727 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | HTT-T1720N | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HTT-Y2309H | het unknown | 0.459 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GGH-A31T | het unknown | 0.198 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | CLDN16-R55Shift | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.25 | RP1-R872H | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | RP1-N985Y | het unknown | 0.206 | Unknown benign | Low clinical importance, uncertain | Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant. |
| 0.25 | RP1-A1670T | het unknown | 0.265 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | RP1-S1691P | het unknown | 0.295 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | RP1-C2033Y | het unknown | 0.186 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests |
| 0.25 | KRT14-A94T | het unknown | 0.269 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT14-C63Y | het unknown | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | JUP-M697L | het unknown | 0.520 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BRCA1-S1634G | het unknown | 0.292 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BRCA1-K1183R | het unknown | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BRCA1-E1038G | het unknown | 0.265 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | BRCA1-P871L | het unknown | 0.555 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ZBTB49-C160* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | ZBTB49-Y320S | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0 | H6PD-R453Q | het unknown | 0.407 | Recessive pathogenic | Low clinical importance, uncertain | This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease). |
| 0 | BCHE-G418V | het unknown | 0.008 | Recessive pharmacogenetic | High clinical importance, well-established | This is the "flu-2" variant of BCHE and can cause prolonged post-succinylcholine apnea (an adverse side-effect of prolonged response to anesthesia) when homozygous or compound heterozygous with other deleterious BCHE variants. |
| 0 | CD40LG-G219R | het unknown | 0.022 | Recessive pathogenic | Low clinical importance, uncertain | Study of a single family with X-linked immunodeficiency implicated this variant as causal when combined with XIAP-G466X. The authors' hypothesis is that either variant alone has much less effect, if any. Because 2% of males carry this variant, it is very unlikely that the variant alone has any severe effect. |
| 0 | MBL2-G54D | het unknown | 0.102 | Recessive pathogenic | Low clinical importance, likely | This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C). |
| 0 | HFE-C282Y | het unknown | 0.018 | Recessive pathogenic | Low clinical importance, well-established | This variant is associated with hereditary haemochromatosis, 80% of patients with that disease are homozygous for this variant. However, the penetrance is low, in Beutler et al. they note that only 1 of their 158 homozygotes met criteria for diagnosis with the condition. |
| 0 | CLEC7A-Y238* | het unknown | 0.043 | Recessive pathogenic | Low clinical importance, uncertain | This variant has been found to impair homan mucosal antifungal defense and was implicated in vulvovaginal candidiasis and mucocutaneous infections in a Dutch family. |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,704,675,486 bases (95.5% of callable positions, 89.5% of total positions)
Coding region coverage: 31,215,738 bases (94.0% of all genes, 95.2% of genes with clinical testing available)
Chromosomes: chr1, chr10, chr11, chr12, chr13, chr14, chr15, chr16, chr17, chr18, chr19, chr2, chr20, chr21, chr22, chr3, chr4, chr5, chr6, chr7, chr8, chr9, chrM, chrX