hu034DB1 - GET-Evidence variant report

Variant report for hu034DB1

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1SCN5A-G615EHighUncertainUncertain pathogenic

Dominant, Heterozygous
0.000292283Rare, 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
2MTR-P749SHighUncertainUncertain pathogenic

Unknown, Heterozygous
0.00102249Unreported, predicted to be damaging. Other recessive missense mutations in this gene cause methylcobalamin deficiency.1
3C3-R102GModerateLikelyLikely pathogenic

Complex/Other, Heterozygous
0.152073This 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
4HFE-C282YLowWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
0.0494516This 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
5COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Heterozygous
0.324689This 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
6MTRR-I49MLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.451199This 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
7rs5186LowLikelyLikely pathogenic

Unknown, Homozygous
0.214878This 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
8MBL2-G54DLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.103923This 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
9WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Homozygous
0.400446This 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
10RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.278026Associated 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
11CD40LG-G219RLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0114142Study 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
12TP53-P72RLowUncertainUncertain pathogenic

Unknown, Homozygous
0.627743This 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
13BRCA2-N372HLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.23656This 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
14SP110-L425SLowUncertainUncertain pathogenic

Unknown, Homozygous
0.863357This 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
15CLEC7A-Y238XLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0632088This variant has been found to impair homan mucosal antifungal defense and was implicated in vulvovaginal candidiasis and mucocutaneous infections in a Dutch family.1
16H6PD-R453QLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.308886This 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
17BCHE-G418VHighWell-establishedWell-established pharmacogenetic

Recessive, Carrier (Heterozygous)
0.00362521This 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
18CYP2C9-R144CModerateWell-establishedWell-established pharmacogenetic

Unknown, Heterozygous
0.0970982This 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
19TPMT-Y240CLowWell-establishedWell-established pharmacogenetic

Complex/Other, Heterozygous
0.0461825Alone, 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
20rs1544410LowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.351562rs1544410 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
21FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Carrier (Heterozygous)
0.490519This 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
22PRNP-M129VLowWell-establishedWell-established protective

Complex/Other, Heterozygous
0.339561This 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
23NPC1-H215RLowLikelyLikely protective

Complex/Other, Heterozygous
0.295687This 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
24CFH-V62ILowLikelyLikely protective

Complex/Other, Heterozygous
0.391616Associated 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
25IL7R-T244ILowLikelyLikely protective

Unknown, Heterozygous
0.210169The 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
26TOR1A-D216HLowLikelyLikely protective

Unknown, Homozygous
0.102993This SNP has been shown to be benign and play a protective role against Dystonia. 1
27PCSK9-R237WLowUncertainUncertain protective

Dominant, Heterozygous
0.00102268Reported to cause hypocholesterolemia (a protective effect), but observations had no statistical significance and contradicting evidence exists.1
28ARSA-N350SLowWell-establishedWell-established benign

Unknown, Heterozygous
0.183199This 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
29CACNA1S-L458HLowLikelyLikely benign

Unknown, Homozygous
0.27282Common polymorphism1
30KEL-T193MLowUncertainUncertain benign

Dominant, Heterozygous
0.0320692This 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
31RPGRIP1-A547SLowUncertainUncertain benign

Complex/Other, Heterozygous
0.232202Probably 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
32HPS1-R263WLowUncertainUncertain benign

Unknown, Heterozygous
0.000557724Rare, 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
33APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
34CYP27A1-P384LLowUncertainUncertain benign

Unknown, Heterozygous
0.0177542Probably 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
35DNAH5-E758GLowUncertainUncertain benign

Unknown, Heterozygous
0.00847458Tentatively 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
36DNAH5-E1756KLowUncertainUncertain benign

Unknown, Heterozygous
0.00362521Probably benign.1
37SPTA1-A970DLowUncertainUncertain benign

Unknown, Heterozygous
0.0373134This 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
38PTCH1-P1315LLowUncertainUncertain benign

Unknown, Homozygous
0.29631Common polymorphism, presumed benign.1
39NOTCH3-V1952MLowUncertainUncertain benign

Unknown, Heterozygous
0.00780814Probably benign.1
40FANCA-S1088FLowUncertainUncertain benign

Unknown, Heterozygous
0.0584681Probably 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
41ABCC11-G180RLowUncertainUncertain benign

Unknown, Heterozygous
0.0976947This variant is associated with dry type ear wax (a benign trait) in a recessive manner.1
42RP1-N985YLowUncertainUncertain benign

Unknown, Heterozygous
0.348671Probably 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
43TAS2R38-I296VLowUncertainUncertain benign

Unknown, Heterozygous
0.463376This 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
44SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
45TPCN2-G734ELowUncertainUncertain benign

Unknown, Heterozygous
0.286166Pigmentation allele.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31215738 / 33212919 = 93.99%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.7140762463343117556138955553-955753, 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
2GABRD10.9227373068432710513591950863-1950930, 1957030, 1957037, 1959662-1959664, 1960571-1960578, 1961183, 1961187, 1961196, 1961507-1961509, 1961535-1961540, 1961580-1961588, 1961672, 1961675, 1961704
3PEX1010.81447502548421829812337212-2337215, 2337923-2337936, 2337939-2337940, 2338254-2338258, 2339999-2340038, 2340195-2340198, 2340200, 2343830-2343941
4NPHP410.979444055127318842815923974-5923985, 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
5ESPN10.54697855750487116225656485016-6485231, 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
6PLEKHG510.840388836625950931896527910, 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
7KIF1B10.998682476943357531310357002-10357003, 10425489-10425492, 10435090
8PEX1410.9611992945326344113410659331, 10684426-10684460, 10684478, 10684487, 10690014, 10690021, 10690026-10690029
9TARDBP10.994377510040167124511082356-11082362
10MASP210.998059194565744206111103560, 11105503-11105505
11MTHFR10.9883307965499723197111853973, 11853981, 11853985, 11854129-11854144, 11861325-11861328
12PLOD110.9899267399267422218411994837-11994843, 11994871-11994876, 11994879, 12023666, 12023672-12023675, 12023678, 12024838, 12034774
13MFN210.998680738786283227412066657-12066659
14CLCNKA10.9375129206416352710, 16353040, 16353045, 16353059, 16353066-16353067, 16353080-16353081, 16353084-16353098, 16353103-16353108, 16353192-16353270, 16353806, 16356956-16356961, 16357002-16357004, 16358775-16358776, 16358779, 16358956, 16360141-16360147
15CLCNKB10.9883720930232624206416374499, 16374533, 16375059, 16375063-16375064, 16378792-16378798, 16378861, 16381996, 16382170-16382179
16ATP13A210.95766299745978150354317312740, 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
17SDHB10.9988137603796184317350534
18ALDH4A110.9639479905437461169219203971-19203974, 19203980, 19203983, 19204023-19204032, 19204058-19204084, 19228984-19228987, 19228993-19228998, 19229001-19229003, 19229011-19229015
19PINK110.77777777777778388174620960042-20960428, 20964577
20ALPL10.9657142857142954157521889631, 21900171, 21903876-21903879, 21903891-21903898, 21903939-21903964, 21904079-21904092
21HSPG210.971994535519133691317622150120, 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
22WNT410.85606060606061152105622446663, 22446670-22446676, 22446698-22446747, 22446765-22446774, 22447010, 22447975-22447977, 22448057-22448058, 22448063, 22469339-22469415
23GALE10.9684813753581733104724122656-24122682, 24122755, 24125433-24125436, 24125443
24HMGCL10.988752556237221197824134707-24134714, 24134721, 24134726, 24151863
25FUCA110.88151320485368166140124172274-24172277, 24172282-24172285, 24194388-24194433, 24194448-24194502, 24194508-24194518, 24194530-24194546, 24194555-24194558, 24194628-24194636, 24194678, 24194725-24194727, 24194738-24194746, 24194751-24194753
26LDLRAP110.8662351672060412492725870190-25870277, 25890156-25890164, 25893339-25893353, 25893472-25893483
27SEPN110.89028776978417183166826126722-26126904
28HPCA10.859106529209628258233359161-33359167, 33359389-33359463
29GJB410.99001248439451880135226875, 35227049-35227052, 35227265, 35227349-35227350
30GJB310.99507995079951481335251078-35251081
31PPT110.99891422366992192140562823
32COL9A210.93719806763285130207040768378, 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
33KCNQ410.75478927203065512208841249766-41250063, 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
34CLDN1910.965925925925932367543201565-43201571, 43201574-43201584, 43201637-43201639, 43205638, 43205641
35LEPRE110.88059701492537264221143212431, 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
36SLC2A110.9803921568627529147943395264, 43395292-43395297, 43395338-43395339, 43395346, 43395662, 43424305-43424322
37MPL10.9722222222222253190843803845, 43803848-43803855, 43803858-43803863, 43806158, 43806177-43806183, 43814517, 43814661-43814663, 43814666-43814668, 43814945-43814946, 43814951-43814955, 43814965-43814967, 43814970-43814978, 43814994, 43815000-43815002
38MUTYH10.99553855959217156945797156, 45797161-45797163, 45797166, 45798304, 45799233
39POMGNT110.995461422087759198346660262-46660266, 46660583-46660586
40STIL10.9963796224463414386747725990, 47748114, 47748117, 47748124-47748131, 47753331, 47767953-47767954
41ORC110.9961330239752510258652850317, 52850322-52850328, 52851536-52851537
42CPT210.9736975214972252197753662620-53662624, 53662627-53662644, 53662690-53662717, 53662762
43DHCR2410.84912959381044234155155319779, 55337099, 55341692, 55352562-55352792
44BSND10.988577362409141196355464864-55464873, 55464922
45PCSK910.9668109668109769207955505530, 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
46ALG610.998039215686273153063876899, 63876979, 63881552
47LEPR10.998284734133796349866036170, 66036173, 66038122, 66064466, 66064469-66064470
48RPE6510.999375780274661160268914359
49CTH10.9876847290640415121870883669, 70883672, 70883684, 70904493-70904504
50ACADM10.995305164319256127876198368-76198369, 76228445-76228448
51GLMN10.9932773109243712178592732010-92732019, 92732283, 92752122
52RPL510.99664429530201389493300449-93300450, 93307412
53ABCA410.9914980944004758682294461686, 94461691, 94467418, 94467422-94467425, 94467428-94467429, 94495026-94495039, 94497399-94497403, 94497408-94497422, 94497426-94497438, 94497485, 94497527
54DPYD10.9967511371020110307897847955-97847961, 98060690, 98157346, 98293682
55AGL10.99086757990868424599100327910, 100340926, 100358103, 100358109, 100377961-100377974, 100377991-100378013, 100382195
56DBT10.9944789510006981449100684289-100684296
57COL11A110.953087777166942565457103356009, 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
58GSTM110.10502283105023588657110230496-110230531, 110230792-110230825, 110230834-110230867, 110231295-110231359, 110231670-110231697, 110231710-110231751, 110231847-110231947, 110232893-110232988, 110233076-110233186, 110235877-110235917
59NGF10.9724517906336120726115828788, 115829228-115829233, 115829250, 115829253, 115829256-115829265, 115829269
60VANGL110.99174603174603131575116226585-116226587, 116226592-116226594, 116226638-116226641, 116226645, 116228012, 116228103
61CASQ210.975301200116243909-116243934, 116244024-116244026, 116269613
62NOTCH210.965614886731392557416120457968, 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
63HFE210.9937548790007881281145415575-145415582
64PRPF310.999025341130622052150315901, 150315906
65FLG10.9894961431150512812186152276297, 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
66HAX110.9714285714285724840154245860-154245883
67CHRNB210.93969516235918911509154540530-154540539, 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
68GBA10.9993792675356911611155205043
69PKLR10.98550724637681251725155260383, 155260385-155260386, 155261691-155261696, 155269968-155269970, 155269989-155269991, 155269997-155269998, 155270002, 155270009-155270014, 155270033
70LMNA10.9488536155202829567156105045-156105053, 156105080-156105083, 156105753-156105761, 156106096, 156106133, 156106138-156106139, 156106144-156106146
71LMNA10.919298245614041611995156084714-156084761, 156084777-156084783, 156084850-156084853, 156084978-156085014, 156105045-156105053, 156105080-156105083, 156105753-156105761, 156106096, 156106133, 156106138-156106139, 156106144-156106146, 156108296, 156108299, 156108304-156108336, 156108515
72SEMA4A10.98512685914261342286156124437, 156124441-156124444, 156131137-156131140, 156131230-156131231, 156131278, 156131282-156131287, 156146295-156146298, 156146527-156146537, 156146543
73NTRK110.919280635717271932391156830727-156830881, 156830923-156830929, 156838351-156838359, 156843436-156843438, 156843475-156843476, 156843595-156843605, 156843685, 156848988-156848990, 156851333, 156851336
74ATP1A210.9990205680705233063160090772, 160100304-160100305
75PPOX10.9937238493723891434161136674-161136682
76NDUFS210.9971264367816141392161172220-161172223
77MPZ10.84942084942085117777161275699-161275700, 161275733-161275736, 161275742, 161275903, 161275907, 161276153, 161276157-161276163, 161276188-161276193, 161279629-161279722
78DDR210.9992211838006222568162688871, 162688884
79TBX1910.998515219005221347168260554-168260555
80SLC19A210.97255689424364411494169454852, 169454861-169454862, 169454885-169454893, 169454937-169454938, 169454941, 169454944-169454948, 169454953-169454960, 169454965-169454976, 169454980
81F510.99535580524345316675169497298-169497309, 169509551, 169510337-169510343, 169510472-169510478, 169555512-169555515
82FMO310.9993746091307111599171061858
83MYOC10.997359735973641515171621461-171621463, 171621704
84FASLG10.998817966903071846172628407
85DARS210.98864809081527221938173794459, 173814402-173814422
86NPHS210.844618055555561791152179544821-179544999
87LHX410.97442455242967301173180199665-180199667, 180199673-180199676, 180199683, 180199690, 180199692, 180199702, 180241090-180241108
88RNASEL10.9959568733153692226182554945-182554949, 182554955-182554957, 182555269
89LAMC210.99525404801787173582183155498, 183155501, 183155503-183155505, 183155508, 183155513-183155518, 183155549, 183155552, 183184677, 183206617-183206618
90HMCN110.99716110716824816908185704122, 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
91PDC10.99190283400816741186418586-186418591
92CDC7310.9981203007518831596193094306, 193111040, 193111051
93CFH10.98051948051948723696196658727-196658744, 196659193-196659206, 196659275, 196659294-196659295, 196706748-196706751, 196716334-196716359, 196716389-196716395
94CFHR110.994964753272915993196797238, 196797244, 196799650-196799651, 196801078
95CFHR510.96315789473684631710196953092, 196953110-196953140, 196953169-196953195, 196953240, 196953244, 196963318, 196967395
96ASPM10.9889783400421711510434197056085, 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
97CACNA1S10.98737104233369715622201009379-201009384, 201009392-201009395, 201009838, 201022679, 201038623, 201081316-201081358, 201081386-201081390, 201081393-201081394, 201081400, 201081404, 201081407-201081408, 201081411-201081413, 201081434
98PKP110.9981659789087642181201282467-201282469, 201286771
99TNNT210.99549549549554888201333434-201333437
100CD4610.9991666666666711200207943688
101LAMB310.98380221653879573519209788702-209788703, 209790785, 209791829-209791831, 209796345-209796350, 209796430-209796436, 209797003-209797007, 209797015, 209799119-209799124, 209799133-209799134, 209800257, 209800302, 209800781-209800802
102RD310.993197278911564588211652493, 211652531-211652533
103USH2A10.9892369786661516815609215820970-215820972, 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
104LBR10.9994588744588711848225609884
105PSEN210.96362286562732491347227069701, 227071408, 227071412, 227071415, 227071467-227071482, 227071592-227071620
106ADCK310.97119341563786561944227152827, 227152831, 227152860, 227152863, 227152904-227152908, 227169788-227169789, 227171553-227171555, 227171795-227171802, 227171816, 227171819-227171820, 227171853, 227171899-227171915, 227171924-227171936
107GJC210.203030303030310521320228345460-228345530, 228345536-228345549, 228345557-228345609, 228345615, 228345618-228345624, 228345645-228345701, 228345708-228345716, 228345723-228345862, 228345880-228345892, 228345900-228346180, 228346188-228346300, 228346321, 228346333-228346617, 228346625-228346631
108ACTA110.745149911816582891134229567547, 229567554, 229567641, 229567761-229567824, 229567849-229567884, 229567890-229567932, 229568017-229568088, 229568110-229568123, 229568129, 229568143, 229568155-229568178, 229568400, 229568403-229568406, 229568440-229568465
109AGT10.9965706447187951458230838898, 230838907-230838910
110GNPAT10.999510523739612043231411032
111LYST10.9855339295107816511406235866136-235866138, 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
112ACTN210.937802607076351672685236849974-236850099, 236907975-236907992, 236908023-236908024, 236908029, 236914804, 236917297-236917303, 236917377, 236925833-236925841, 236925851-236925852
113MTR10.99657714586625133798237013675-237013683, 237054574, 237060942-237060944
114RYR210.9841653247450323614904237205822-237205869, 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
115FH10.94390084801044861533241661137-241661142, 241661228-241661233, 241661238-241661241, 241672047-241672048, 241676947-241676972, 241682941-241682982
116NLRP310.98907103825137343111247582217-247582247, 247588283-247588285
117NET1100.97152428810725117915454672-5454676, 5454695-5454702, 5454708-5454709, 5454726-5454744, 5454750-5454760, 5454767, 5454774-5454776, 5471133-5471134
118GATA3100.94981273408246713358097648-8097650, 8097653, 8097677-8097682, 8097705-8097712, 8097743-8097763, 8097794, 8097839, 8097846-8097859, 8100727-8100728, 8100745-8100751, 8100764-8100766
119OPTN100.991926182237614173413152356-13152369
120PHYH100.9478859390363853101713341968-13341998, 13342016-13342025, 13342031-13342042
121CUBN100.99540103016924501087216878269-16878270, 16882332, 16882347, 16882354, 16882357-16882362, 16941088-16941092, 16982215, 17032468-17032488, 17032501, 17085887, 17085919-17085922, 17142036, 17142039-17142042, 17142092
122PTF1A100.2431610942249274798723481460-23482185, 23482197, 23482728, 23482770-23482771, 23482776, 23482820-23482835
123MYO3A100.9915481344052841485126241185-26241190, 26241194, 26355987-26355995, 26357747-26357748, 26385318-26385320, 26446277-26446280, 26446283-26446287, 26500809-26500816, 26500857-26500859
124PDSS1100.89182692307692135124826986657, 26986667-26986668, 26986671-26986672, 26986678-26986769, 26994250-26994286, 27035400
125RET100.96053811659193132334543572707-43572779, 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
126ERCC6100.9848282016956768448250667031, 50667051, 50667113-50667118, 50667123-50667125, 50681033, 50691443-50691450, 50691490, 50708695-50708696, 50708714, 50713936, 50740789-50740798, 50740811-50740832, 50740835-50740845
127CHAT100.89497107254117236224750822247-50822257, 50822266-50822439, 50822447-50822453, 50822500-50822501, 50827908-50827910, 50833672, 50857587-50857622, 50873013-50873014
128PCDH15100.97520801494311146588955587204-55587208, 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
129EGR2100.92522711390636107143164573003-64573043, 64573051-64573057, 64573336-64573340, 64573345, 64573350-64573352, 64573357-64573360, 64573363, 64573376, 64573379-64573381, 64573385, 64573394, 64573474-64573511, 64573560
130KIAA1279100.99624866023587186670748637, 70748948, 70748953, 70748956-70748958, 70748962
131NODAL100.994252873563226104472201231-72201234, 72201349-72201350
132PRF1100.9676258992805854166872358254-72358255, 72358258, 72358270, 72358273-72358274, 72358338-72358366, 72358559, 72358733-72358735, 72358738, 72358851-72358858, 72360395-72360400
133PCBD1100.99047619047619331572648288-72648290
134SLC29A3100.9901960784313714142873079067, 73115937-73115942, 73115964, 73115973-73115978
135CDH23100.98955847255371051005673375356, 73464770, 73464867-73464887, 73550105-73550106, 73550116-73550119, 73550124-73550133, 73565648, 73565722-73565724, 73565727-73565734, 73565737-73565742, 73565931-73565962, 73572539, 73573001-73573014, 73574845
136VCL100.9697503671072103340575757975-75757980, 75757991, 75758008-75758018, 75758024, 75758030, 75758038-75758064, 75758085-75758091, 75758103, 75758105, 75758112-75758130, 75758132-75758133, 75854117-75854132, 75873959-75873966, 75873971, 75873980
137LDB3100.93315018315018146218488441392-88441393, 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
138BMPR1A100.9881175734834319159988649925, 88649928, 88683133-88683149
139GLUD1100.7298747763864453167788834309, 88836362-88836368, 88854082-88854526
140PTEN100.9966996699674121289692941, 89692949, 89720651-89720652
141LIPA100.995833333333335120090974620-90974621, 90987999, 90988076, 90988093
142ANKRD1100.9718752796092675637, 92675962-92675968, 92675972, 92675988, 92678659, 92678924-92678925, 92678981-92678984, 92678991, 92679000, 92679007, 92679010-92679012, 92679016-92679019
143PDE6C100.996895615056278257795372734, 95415584-95415590
144ZFYVE27100.9765372168284829123699504537, 99504556, 99508055, 99512825-99512826, 99512829-99512837, 99512864-99512868, 99512910, 99512913-99512919, 99512930, 99512938
145HPS1100.98243114909782372106100177337-100177339, 100177350-100177353, 100177360-100177363, 100177366, 100177370-100177379, 100183547-100183553, 100185361, 100185372, 100185380, 100189590-100189592, 100189600, 100190920
146COX15100.9983779399837821233101476139, 101476142
147ABCC2100.99892194911654638101610435-101610439
148PAX2100.97844495765974281299102586766-102586773, 102587323-102587324, 102587339-102587342, 102587345, 102587348-102587350, 102587353-102587357, 102587436-102587440
149C10orf2100.99513381995134102055102750752-102750753, 102750756-102750763
150FBXW4100.909604519774011121239103371151, 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
151HPS6100.753436426116845742328103825232-103825583, 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
152SUFU100.909965635738831311455104263910-104264016, 104264025-104264043, 104264079-104264083
153COL17A1100.976635514018691054494105793007-105793014, 105796805-105796814, 105798247-105798248, 105798251-105798253, 105816767-105816774, 105816791-105816849, 105819444-105819458
154HABP2100.9988116458704721683115341879, 115341883
155EMX2100.58234519104084317759119302779-119303089, 119303107-119303111, 119303177
156BAG3100.879050925925932091728121411188-121411367, 121431837-121431843, 121431961, 121432002-121432019, 121436335-121436336, 121436738
157FGFR2100.9963459196102392463123274677-123274681, 123279616-123279619
158ARMS2100.996913580246911324124214487
159HTRA1100.707553707553714221443124221169-124221517, 124221526, 124221553-124221613, 124221628-124221636, 124266214, 124266332
160ACADSB100.99230177059276101299124768577-124768583, 124810604, 124810701-124810702
161UROS100.99373433583965798127477446-127477447, 127477451-127477452, 127503617
162TALDO1110.896449704142011051014747482-747578, 763344-763345, 763390, 763398, 763403-763404, 763425, 764349
163SLC25A22110.809670781893185972791916-791951, 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
164PNPLA2110.625082508250835681515819719-819905, 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
165CTSD110.8159806295399522812391774733-1774755, 1775033-1775039, 1775048-1775055, 1775068-1775103, 1775224-1775228, 1775238-1775244, 1775265-1775270, 1775276-1775295, 1775311-1775318, 1775329-1775367, 1780205, 1785022-1785089
166TNNI2110.86520947176685745491861465, 1861468, 1861639, 1861655, 1861658-1861660, 1861667-1861668, 1861760, 1861776, 1861807, 1861841, 1861850, 1862060-1862061, 1862066-1862087, 1862095-1862100, 1862103, 1862309-1862336, 1862374
167TNNT3110.9021879021879767771946329-1946346, 1955218-1955221, 1955232-1955238, 1959674-1959720
168H19110.770308123249324610712017309-2017324, 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
169IGF2110.749648382559771787112154323-2154326, 2154374, 2154377-2154380, 2156652-2156658, 2161365-2161526
170TH110.8653968253968321215752186556-2186557, 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
171KCNQ1110.8207779419005436420312466329-2466622, 2466630-2466634, 2466642-2466649, 2466654, 2466658-2466679, 2466692, 2591948-2591954, 2606526, 2608898, 2869101-2869116, 2869198, 2869203, 2869212-2869215, 2869221-2869222
172CDKN1C110.126182965299688319512905234-2905364, 2905900-2906586, 2906632-2906637, 2906694-2906700
173HBD110.995495495495524445255638-5255639
174SMPD1110.9456751054852310318966411834-6411837, 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
175TPP1110.99940898345154116926638339
176SBF2110.985765765765777955509838412, 9838437, 9838440-9838445, 9838450, 9838495-9838507, 9983573, 10052670, 10315562-10315616
177PTH110.99425287356322234813514013-13514014
178KCNJ11110.9795396419437324117317408524-17408527, 17408694, 17408799-17408817
179ABCC8110.9854614412136569474617419268, 17419275-17419277, 17424287-17424289, 17449869-17449870, 17498176-17498178, 17498233-17498236, 17498248-17498253, 17498264-17498309, 17498323
180USH1C110.90703703703704251270017531112-17531362
181LDHA110.996996996997399918422433-18422435
182SLC6A5110.94653299916458128239420622738-20622741, 20622748, 20622761, 20622764, 20622789-20622821, 20622862-20622903, 20622926, 20622959-20622963, 20622966-20622976, 20622979-20622995, 20623004, 20623007, 20623023, 20623042, 20623144-20623147, 20623156-20623158, 20623161
183ANO5110.95915390226112112274222276943-22276974, 22276990-22277068, 22284579
184FANCF110.9288888888888980112522646783-22646809, 22646818-22646843, 22646936, 22647182, 22647185, 22647232, 22647236-22647242, 22647246, 22647251-22647265
185PAX6110.9858156028368818126931824304-31824313, 31824335, 31824365-31824370, 31824375
186WT1110.68725868725869486155432449515-32449525, 32449535-32449550, 32456322, 32456334-32456336, 32456358-32456368, 32456371-32456380, 32456382, 32456424-32456426, 32456436-32456439, 32456451-32456465, 32456481-32456891
187PDHX110.9847277556440923150634938203, 34938209-34938226, 34938265, 34938278, 34991772, 34999725
188RAG1110.998403575989785313236594924-36594925, 36595042-36595043, 36595047
189EXT2110.996291145108958215744228384-44228391
190ALX4110.8131067961165231123644286566, 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
191SLC35C1110.9801136363636421105645827427, 45827431-45827432, 45827439, 45827452-45827453, 45827467, 45827809-45827815, 45827854-45827860
192PEX16110.9788664745437122104145931704, 45939253, 45939256, 45939260-45939271, 45939278, 45939282, 45939291-45939292, 45939296-45939298
193F2110.99839486356343186946747554, 46747564-46747565
194DDB2110.979750778816226128447236765-47236779, 47236786, 47236788-47236789, 47236798, 47236802-47236808
195MYBPC3110.997908496732038382547356739-47356741, 47365044, 47365163, 47371325, 47371358, 47371440
196SLC39A13110.9722222222222231111647431733, 47431736, 47431767, 47431770, 47431774, 47431777-47431781, 47433914-47433920, 47433923-47433926, 47433938, 47435030, 47435046-47435048, 47436376, 47436399-47436402
197RAPSN110.9539951573849957123947460283-47460285, 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
198SERPING1110.9594145043246861150357365744-57365794, 57381927-57381933, 57381980, 57381984, 57381989
199TMEM216110.99621212121212126461165296
200SDHAF2110.976047904191621250161213454-61213465
201BEST1110.94084186575654104175861719290-61719299, 61723218-61723219, 61723223-61723225, 61723229-61723237, 61723245, 61723248-61723256, 61723276-61723319, 61723385-61723410
202ROM1110.937566105662380767-62380804, 62380816-62380839, 62381060-62381062, 62381912
203SLC22A12110.9440433212996493166264359171, 64367171, 64367190, 64367193-64367197, 64367239-64367312, 64368247-64368257
204PYGM110.9881376037959730252964521014, 64521042, 64521045-64521046, 64521053-64521055, 64521129-64521131, 64521134, 64521142, 64521145, 64521418, 64521421-64521426, 64521429-64521432, 64521435-64521436, 64527131-64527132, 64527144, 64527154
205MEN1110.9691558441558457184864571943, 64572018, 64572162, 64572172, 64573226-64573232, 64573739-64573744, 64575029-64575031, 64577361, 64577516-64577517, 64577524-64577528, 64577530, 64577533, 64577541-64577549, 64577554-64577561, 64577572-64577581
206RNASEH2C110.7838383838383810749565487523-65487524, 65487530-65487531, 65487830-65487879, 65488060-65488086, 65488156-65488163, 65488174-65488179, 65488183-65488184, 65488189-65488190, 65488204-65488210, 65488229
207EFEMP2110.999249249249251133265639813
208CST6110.6217145065779516-65779556, 65779578-65779587, 65779601-65779647, 65779657-65779688, 65779738-65779755, 65780372-65780382, 65780405-65780415, 65780418
209BBS1110.9859708193041525178266298375-66298383, 66298394-66298402, 66299428, 66299431-66299436
210SPTBN2110.96305590408476265717366453428-66453430, 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
211PC110.9618320610687135353766617300, 66618377-66618381, 66618390-66618393, 66620022, 66620033-66620045, 66620049-66620057, 66620063, 66620077-66620085, 66620102-66620131, 66633658-66633713, 66633716-66633718, 66633756, 66633767, 66639214
212CABP4110.993961352657582867223688, 67225879-67225882
213AIP110.9325276938576799367256828, 67257534-67257565, 67257569, 67257823-67257830, 67257837-67257854, 67258361, 67258383-67258386, 67258391, 67258394
214NDUFV1110.994265232974918139567374489-67374495, 67379913
215NDUFS8110.944707740916273563367799793, 67799800-67799801, 67800443-67800467, 67800679-67800682, 67803947, 67803952-67803953
216TCIRG1110.93501805054152162249367810136-67810137, 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
217LRP5110.96699669966997160484868080183-68080273, 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
218CPT1A110.9870801033591730232268527710-68527716, 68527760, 68527763, 68552325, 68552377, 68560794-68560798, 68560809-68560822
219IGHMBP2110.9899396378269630298268703968, 68704039-68704044, 68704360, 68704495, 68704506-68704514, 68704520-68704530, 68707020
220DHCR7110.9250700280112107142871146438-71146479, 71146552-71146554, 71146574-71146584, 71146594-71146598, 71146667-71146680, 71146691, 71146738, 71146744-71146745, 71146818-71146844, 71148926
221LRTOMT110.981735159817351687671819741-71819756
222MYO7A110.9884175691937477664876858854, 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
223ALG8110.998734977862112158177817939-77817940
224TMEM126A110.99319727891156458885365203-85365206
225FZD4110.9399008674101697161486665843-86665845, 86665853, 86665862-86665868, 86665897-86665904, 86665929, 86666039-86666041, 86666045-86666055, 86666065-86666127
226TYR110.999371069182391159089028411
227MTMR2110.9844720496894430193295657066, 95657069, 95657079-95657080, 95657089-95657113, 95657118
228TRPC6110.99105865522175252796101359750, 101454159, 101454163-101454175, 101454182-101454190, 101454201
229DYNC2H1110.9731942835071534712945102984329, 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
230ACAT1110.96417445482866461284107992343-107992386, 108012405, 108014711
231ATM110.985388725329841349171108098355, 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
232RDX110.9948630136986391752110108303-110108308, 110108311, 110108318-110108319
233ALG9110.95315904139434861836111742089-111742096, 111742102-111742123, 111742129-111742145, 111742147-111742185
234DLAT110.98559670781893281944111896321, 111896324, 111896400, 111896404-111896405, 111896408-111896409, 111899589, 111899598-111899600, 111899610-111899611, 111899651-111899654, 111899660-111899663, 111909982, 111910016-111910020, 111910044
235PTS110.970319634703213438112097167-112097179
236DRD2110.99174174174174111332113281449-113281457, 113283574-113283575
237APOA1110.9303482587064756804116706606, 116706609-116706614, 116706627, 116706641-116706644, 116706721-116706725, 116706728, 116706747, 116706752-116706757, 116706771-116706785, 116706788, 116706795-116706799, 116706802, 116706805-116706806, 116706865-116706871
238FXYD2110.990867579908684438117693261-117693262, 117693270-117693271
239HMBS110.9981583793738521086118962158, 118962161
240DPAGT1110.9991850040749811227118972205
241TECTA110.99597834493426266465121028655-121028668, 121028700, 121028704-121028711, 121028722, 121028727-121028728
242ROBO3110.93535207882722694161124735481, 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
243ACAD8110.9911858974359111248134123528-134123532, 134123559, 134132478-134132482
244WNK1120.9931034482758691305977169, 977211-977214, 977219-977222
245WNK1120.952161141418383427149862732, 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
246CACNA2D4120.9707088459285310034141902881-1902886, 1902892-1902894, 1902905-1902913, 1906625-1906632, 1906647-1906682, 1920883-1920885, 1949932-1949933, 1949949, 1953600-1953607, 1953631, 2027484-2027490, 2027528-2027543
247CACNA1C120.9724127419600718165612224477-2224478, 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
248FGF23120.9880952380952497564479647-4479650, 4479657-4479661
249KCNA1120.973118279569894014885020585-5020602, 5020640-5020642, 5020645, 5020687, 5020711-5020714, 5020724-5020729, 5020785, 5020788, 5020855-5020857, 5021033-5021034
250VWF120.9593698175787734384426078424-6078425, 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
251TNFRSF1A120.8596491228070219213686438478-6438523, 6438571, 6438576-6438580, 6438593-6438681, 6438712, 6438741, 6438755-6438788, 6438969-6438970, 6438972-6438973, 6438976-6438977, 6438984-6438988, 6439040-6439042, 6443257
252SCNN1A120.958847736625519021876457043, 6457096-6457105, 6464578, 6464581-6464582, 6471292, 6472609-6472622, 6472666-6472674, 6472681-6472697, 6472718, 6472721, 6472738-6472739, 6472742, 6472747-6472769, 6472850-6472856
253TPI1120.846666666666671157506976731-6976845
254ATN1120.9375874615169322335737045475, 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
255PEX5120.99947257383966118967354406
256AICDA120.9966499162479125978757422-8757423
257CDKN1B120.98659966499162859712870827-12870834
258GYS2120.9640151515151576211221712025-21712073, 21715906, 21716180-21716195, 21716242-21716251
259ABCC9120.9916129032258139465021971087, 21971091-21971099, 21971112, 21971125-21971128, 21971136-21971137, 21971170-21971172, 21991046, 21998564-21998565, 22025563-22025567, 22061060-22061062, 22063233-22063235, 22063246, 22063800-22063802, 22063826
260DNM1L120.9796472184531945221132832354, 32832393-32832399, 32883973, 32890823-32890858
261PKP2120.94431185361973140251433021923, 33049443-33049470, 33049476-33049507, 33049524-33049526, 33049532-33049561, 33049565-33049576, 33049600-33049607, 33049640-33049665
262KIF21A120.984957882069875498639709038, 39713717-39713720, 39724679-39724680, 39726757-39726758, 39733979-39733981, 39756939-39756949, 39756954, 39756957-39756960, 39760303, 39761685-39761707, 39761764, 39836730, 39836752-39836772
263LRRK2120.97217827004219211758440618941-40618947, 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
264IRAK4120.9848156182212621138344167784, 44167788-44167790, 44167794-44167800, 44167814-44167818, 44171446, 44171449, 44180207, 44180258-44180259
265VDR120.9890965732087214128448251345, 48251355-48251356, 48251360-48251361, 48251366-48251371, 48251377-48251378, 48258954
266COL2A1120.9867831541218659446448369788, 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
267MLL2120.950403274346948241661449420601-49420605, 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
268DHH120.77581863979849267119149483643-49483646, 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
269TUBA1A120.964912280701751645649522235-49522241, 49522308-49522314, 49522578, 49522605
270AQP2120.99754901960784281650349274, 50349277
271ACVRL1120.9503968253968375151252307069, 52307072, 52307362, 52307373-52307383, 52307388-52307390, 52307393-52307394, 52307408-52307410, 52307446, 52308277-52308289, 52308341-52308369, 52309093, 52309135, 52312892-52312899
272KRT81120.91106719367589135151852680194-52680198, 52680216, 52680227-52680231, 52680235, 52680250-52680252, 52680263-52680269, 52680273, 52684008-52684012, 52684027, 52684034-52684042, 52684048-52684053, 52684056-52684058, 52684947, 52685061-52685099, 52685117, 52685172-52685218
273KRT86120.9192334017796118146152695758, 52695823-52695857, 52695891, 52696003, 52696893-52696930, 52699880-52699886, 52700034, 52702203-52702206, 52702340-52702369
274KRT83120.92780026990553107148252709696-52709725, 52709824-52709835, 52713118, 52713125-52713127, 52714918-52714944, 52715009-52715042
275KRT6B120.9427728613569397169552840992, 52841055, 52842708-52842709, 52843632-52843637, 52844345-52844347, 52844355-52844363, 52845432-52845438, 52845571-52845601, 52845768-52845804
276KRT6C120.9451327433628393169552862860, 52863564, 52864945-52864951, 52865295-52865300, 52866013-52866014, 52866018, 52867091-52867108, 52867230-52867260, 52867375, 52867457-52867481
277KRT6A120.92684365781711124169552881510-52881539, 52881716-52881727, 52882209-52882225, 52885470-52885474, 52885478, 52885482-52885499, 52885502-52885504, 52886720, 52886908-52886944
278KRT5120.87817258883249216177352908726-52908784, 52908797-52908824, 52908835-52908910, 52908922-52908939, 52908950-52908973, 52910531, 52910996, 52912880-52912887, 52912890
279KRT2120.989062521192053040621-53040629, 53040635, 53040639-53040647, 53045787, 53045793
280KRT1120.9669250645994864193553069117-53069144, 53069170-53069171, 53069223-53069243, 53070145-53070154, 53070174-53070176
281KRT4120.998879551820732178553201523, 53207595
282AAAS120.998781230956732164153701402, 53702580
283ITGA7120.9795680093403470342656078870, 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
284RDH5120.961337513061653795756115176, 56115582, 56115585-56115586, 56115592-56115616, 56115622-56115628, 56117778
285SUOX120.9871794871794921163856396048-56396051, 56398164-56398180
286MYO1A120.9901021711366531313257430823, 57431776-57431785, 57431792-57431811
287KIF5A120.9835430784123951309957944070, 57944087-57944090, 57944107-57944114, 57944132-57944165, 57974888, 57976950-57976952
288CDK4120.99890350877193191258143027
289CYP27B1120.995415848068117152758159815-58159821
290TSFM120.974437627811862597858176595-58176609, 58176620-58176629
291GNS120.9867389993972322165965141674, 65141677-65141686, 65152978-65152980, 65152987, 65152993, 65152996, 65153000, 65153020, 65153050-65153052
292LEMD3120.90497076023392260273665563381-65563395, 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
293BBS10120.997237569060776217276741979, 76742054-76742058
294CEP290120.96922043010753229744088443129, 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
295HAL120.995947315096258197496380865-96380867, 96380875-96380878, 96389604
296TMPO120.8863309352518237208598909688-98909924
297SLC25A3120.9908172635445410108998987864-98987866, 98987870-98987875, 98987879
298SLC17A8120.9774011299435401770100774560-100774563, 100774574-100774578, 100774584, 100774588, 100774592-100774595, 100796441, 100797875-100797898
299SYCP3120.99156118143466711102127423-102127425, 102127428, 102127431-102127432
300GNPTAB120.9997348183505713771102224385
301IGF1120.994897959183673588102813438-102813440
302PAH120.9985283296541621359103288570, 103288603
303UNG120.9129511677282482942109535485-109535512, 109535526-109535533, 109535540-109535578, 109535595-109535600, 109535608
304MMAB120.992031872509966753109998852, 110011229-110011230, 110011244-110011246
305MVK120.9991603694374511191110019291
306TRPV4120.99350152905199172616110221455-110221466, 110232291, 110240912-110240914, 110246172
307ATP2A2120.97635027165229743129110719595-110719614, 110719637-110719642, 110719645, 110719650-110719660, 110719665, 110719669-110719677, 110719682-110719690, 110719708-110719712, 110781066, 110781112-110781115, 110782697-110782703
308ATXN2120.811770674784377423942111890620-111890621, 111895046-111895048, 111895055, 111895058-111895077, 111908367-111908368, 111908371, 111908486, 111908528-111908532, 111951285-111951294, 111957774, 112036588-112037240, 112037253-112037257, 112037263, 112037267-112037286, 112037302-112037318
309PTPN11120.99214365881033141782112856916-112856929
310SDS120.9888551165146911987113831705-113831713, 113835131, 113835134
311TBX5120.97944765574823321557114793663-114793679, 114793809-114793815, 114804117-114804118, 114841603-114841607, 114841701
312TBX3120.854390681003583252232115109671-115109678, 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
313ACADS120.94430992736077691239121163696-121163729, 121174899, 121176083, 121176665-121176670, 121176955-121176981
314HNF1A120.944620253164561051896121416589-121416594, 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
315ATP6V0A2120.99144301828082222571124197113, 124197193-124197201, 124197205, 124197212-124197217, 124203188-124203190, 124220103, 124241401
316PUS1120.834112149532712131284132414268-132414341, 132414452-132414542, 132425969-132425982, 132425998-132426005, 132426309-132426334
317SGCG130.99086757990868887623808803-23808809, 23824783
318SACS130.988791848617181541374023906607-23906609, 23949258-23949408
319CENPJ130.999502116006972401725480461, 25480571
320PDX1130.615023474178432885228494307, 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
321B3GALTL130.9532398129592570149731774222-31774291
322BRCA2130.9999025056059311025732971139
323SPG20130.996501749125447200136888384-36888387, 36888398-36888399, 36909936
324FREM2130.97749737118822214951039261568-39261576, 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
325SLC25A15130.99779249448124290641382607, 41382610
326TNFSF11130.907756813417198895443148440-43148479, 43148489-43148512, 43148523-43148538, 43148542-43148545, 43148572-43148575
327SUCLA2130.9590517241379357139248547467, 48547491, 48571058-48571073, 48575325-48575363
328RB1130.94007893792609167278748878058-48878185, 48947575-48947607, 48947623, 48947626-48947628, 49030451, 49039414
329RNASEH2B130.95314164004264493951484213-51484227, 51484229, 51484237-51484241, 51484248-51484268, 51484275-51484276
330ATP7B130.9968167348794914439852509778, 52518335, 52518345-52518356
331CLN5130.9419934640522971122477566148-77566159, 77566164-77566175, 77566257-77566259, 77566262-77566274, 77566280-77566289, 77566386-77566406
332EDNRB130.9917231000752411132978474736-78474740, 78474783-78474785, 78475332, 78477678-78477679
333SLITRK1130.999521759923481209184453778
334GPC6130.9940047961630710166893879795-93879800, 93879866-93879869
335ZIC2130.472795497185748431599100634319-100634765, 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
336PCCA130.98582533150434312187100741426, 100741432-100741448, 100741451-100741453, 100741456-100741460, 100741464, 100764095-100764096, 100909902, 100909907
337ERCC5130.99150743099788364239103513992, 103514581, 103514622, 103515391-103515401, 103518677-103518694, 103518697-103518700
338COL4A1130.96866267465071575010110804802-110804805, 110804809-110804821, 110814734, 110814740, 110822907-110822921, 110847416, 110853834, 110859047-110859050, 110864218-110864228, 110864248-110864269, 110959291-110959374
339F7130.880898876404491591335113765004-113765069, 113765079-113765089, 113765093, 113765103-113765105, 113765133-113765136, 113765141-113765143, 113772942-113772977, 113773022-113773043, 113773142-113773145, 113773159-113773161, 113773167, 113773170-113773172, 113773174, 113773288
340F10130.98500340831629221467113777183-113777186, 113777197-113777203, 113777206-113777208, 113777212-113777214, 113798230, 113798390-113798391, 113803269, 113803687
341GRK1130.97635933806147401692114322133-114322137, 114322143-114322150, 114325888, 114325903, 114325942, 114325949-114325971, 114426047
342TEP1140.9960679857940131788420841506-20841513, 20841516-20841517, 20844394, 20848475-20848477, 20851407, 20851762-20851775, 20851782, 20872889
343RPGRIP1140.9948199948199920386121769190-21769198, 21769221-21769222, 21769324-21769325, 21785921-21785927
344SLC7A7140.9895833333333316153623282110, 23282117-23282128, 23282134, 23282141, 23282153
345PABPN1140.6123778501628735792123790679-23791029, 23793487-23793491, 23793496
346MYH6140.989347079037862582023852500-23852502, 23852525-23852526, 23857063-23857065, 23857395, 23858179-23858184, 23858210-23858215, 23858220-23858235, 23858243-23858256, 23859409-23859416, 23859424, 23871801, 23872651
347MYH7140.97882231404959123580823885264-23885285, 23886728-23886731, 23886767, 23886835, 23886872-23886876, 23887522-23887526, 23887532, 23887556-23887590, 23888406-23888428, 23889208-23889210, 23889220, 23889233, 23891412-23891413, 23891501-23891516, 23900175, 23900996-23900997
348NRL140.6414565826330525671424550468, 24550472, 24550475-24550478, 24550481, 24550485-24550487, 24550536-24550774, 24551763, 24551780, 24551812-24551815, 24551818
349PCK2140.998959958398342192324563627, 24566306
350TINF2140.9859882005899719135624711485, 24711490-24711495, 24711498-24711501, 24711506, 24711509, 24711520-24711523, 24711537-24711538
351TGM1140.997962510187455245424723480-24723481, 24723484-24723486
352FOXG1140.63605442176871535147029236486-29236974, 29237177-29237200, 29237224-29237227, 29237346, 29237349, 29237352, 29237355-29237357, 29237589-29237600
353COCH140.9745916515426542165331344178, 31344262-31344302
354CFL2140.99201596806387450135182337, 35183744-35183746
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431GFER160.580906148867312596182034220-2034477, 2034811
432TSC2160.9741887905604714054242103389-2103416, 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
433PKD1160.746592317224293272129122139785-2139786, 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
434ABCA3160.981622678396879451152328442-2328451, 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
435MEFV160.958653026427969723463304436-3304454, 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
436SLX4160.990372388737515355053632375, 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
437CREBBP160.8924819211352278873293777730-3777785, 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
438GLIS2160.8876190476190517715754386758, 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
439ALG1160.9225806451612910813955121889-5121890, 5121894, 5121896-5121908, 5121913, 5121932, 5125408, 5128834-5128875, 5130968-5130999, 5131027-5131036, 5131055, 5133755, 5134816-5134818
440ABAT160.991350632069191315038829654-8829661, 8870256, 8870341-8870344
441PMM2160.97975708502024157418891765-8891779
442LITAF160.99588477366255248611647430-11647431
443MYH11160.9893939393939463594015809046-15809047, 15811095-15811153, 15835332, 15839081
444ABCC6160.9804964539007188451216244029-16244036, 16244054, 16244061, 16248862-16248863, 16251634, 16259527, 16263554-16263558, 16263691, 16267156, 16276708-16276709, 16292019-16292021, 16308189, 16308196, 16313421-16313423, 16315668-16315688, 16317256-16317291
445UMOD160.9542381695267888192320355366-20355370, 20359867, 20359877, 20359983-20359993, 20360009-20360011, 20360017-20360027, 20360039-20360041, 20360101-20360103, 20360131-20360180
446OTOA160.9897660818713535342021696559-21696581, 21721293-21721300, 21768445, 21768473-21768474, 21768553
447OTOA160.99598393574297499622584583-22584585, 22584693
448SCNN1G160.9948717948717910195023200783-23200786, 23200789-23200794
449SCNN1B160.9947997919916810192323359950-23359955, 23360161, 23391898, 23391924-23391925
450COG7160.9926502377864217231323415101, 23415104-23415105, 23415108-23415113, 23436130-23436136, 23436176
451PALB2160.99831508003376356123640589-23640591, 23640594-23640596
452CLN3160.9521640091116263131728493431-28493434, 28493438, 28493963-28493974, 28497679-28497680, 28497686-28497689, 28497694-28497733
453TUFM160.9539473684210563136828857312, 28857338, 28857381-28857427, 28857556, 28857567-28857569, 28857575-28857576, 28857579-28857583, 28857586, 28857589-28857590
454ATP2A1160.9677312042581597300628911961, 28911973-28911980, 28912005-28912011, 28912083-28912119, 28912131-28912142, 28912145-28912152, 28912162-28912171, 28913332, 28914226-28914232, 28914756-28914761
455CD19160.998204667863553167128948367, 28948377, 28948418
456PHKG2160.91318591318591106122130760142-30760236, 30764722, 30764726, 30768025, 30768028, 30768031, 30768141-30768143, 30768339, 30768349-30768350
457VKORC1160.916666666666674149231102643, 31102648-31102656, 31104735-31104737, 31105900, 31105915-31105917, 31105925-31105926, 31105944-31105965
458FUS160.959519291587664158131195253-31195256, 31195261-31195263, 31195266-31195271, 31195279-31195280, 31195289-31195296, 31195676-31195706, 31196381, 31196402, 31196407, 31196417-31196422, 31202755
459SLC5A2160.94105993065874119201931499027, 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
460PHKB160.9957343083485714328247533755-47533763, 47683045, 47723000, 47733184-47733186
461NOD2160.9715017611271289312350733461-50733462, 50745050, 50745053-50745055, 50745312, 50745362-50745366, 50745432, 50745473-50745476, 50745521-50745544, 50745861-50745897, 50745928-50745938
462CYLD160.9944095038434716286250785588-50785589, 50785659-50785666, 50785700, 50785722, 50785728-50785730, 50785733
463SALL1160.97081761006289116397551171105-51171125, 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
464RPGRIP1L160.9921479229989931394853656230, 53672247-53672268, 53672314, 53691437-53691440, 53691443-53691444, 53730163
465MMP2160.94301563287948113198355513392-55513489, 55513504-55513507, 55513510, 55513513, 55523627-55523634, 55525740
466BBS2160.995844875346269216656553675-56553681, 56553687-56553688
467SLC12A3160.9806013579049560309356899219, 56899223, 56899231-56899232, 56900984-56900986, 56901003-56901013, 56901073-56901078, 56901084, 56901092, 56901100-56901105, 56901108, 56921837, 56921840, 56921848, 56921920-56921943
468COQ9160.99686520376176395757481418-57481420
469GPR56160.997577519379845206457684212-57684215, 57684240
470CNGB1160.9789669861554879375657918185-57918188, 57918191-57918214, 57918219, 57918233-57918236, 57918243-57918244, 57918249-57918250, 57918280-57918283, 57918291, 57918294-57918297, 57918322-57918326, 57918330, 57918334-57918339, 57931773-57931792, 58001144
471TK2160.909090909090918492466583841-66583844, 66583850-66583854, 66583870-66583872, 66583875-66583879, 66583884-66583886, 66583903-66583906, 66583927-66583931, 66583984-66583991, 66584003-66584049
472HSD11B2160.68472906403941384121867465152-67465399, 67469641-67469650, 67469942-67469944, 67469968-67469995, 67470000-67470007, 67470038-67470043, 67470215, 67470270, 67470273-67470274, 67470495-67470501, 67470518-67470575, 67470629, 67470632, 67470688, 67470891-67470899
473LCAT160.9357520786092285132367973973, 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
474CDH3160.9959839357429710249068679551-68679553, 68679556, 68679596, 68679624-68679625, 68719158-68719159, 68725807
475CDH1160.9856549641374138264968771329-68771366
476COG8160.88961392060903203183969364752-69364761, 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
477AARS160.998968008255933290770316547-70316549
478GCSH160.7164750957854414852281129736-81129883
479GAN160.90133779264214177179481348719-81348885, 81388085, 81388221-81388224, 81388229, 81388232-81388235
480MLYCD160.64102564102564532148283932750-83933277, 83948757, 83948761-83948763
481LRRC50160.9871441689623528217884179059, 84179069, 84179073-84179074, 84179097, 84179109, 84179113, 84179155-84179159, 84182731-84182732, 84199419-84199424, 84199427, 84199439, 84199447-84199452
482FOXF1160.62017543859649433114086544176-86544264, 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
483FOXC2160.45152722443559826150686601012-86601016, 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
484JPH3160.81041388518024426224787636818-87636851, 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
485CYBA160.5527210884353726358888709761-88709764, 88709772-88709979, 88712525-88712528, 88712532, 88712579-88712587, 88712590, 88712596-88712600, 88717364-88717380, 88717386-88717387, 88717410-88717421
486APRT160.876611418047886754388877972-88877974, 88877979-88877983, 88878026-88878064, 88878251, 88878289-88878307
487GALNS160.90694710006373146156988884444, 88884454-88884461, 88884472-88884479, 88884482-88884483, 88884525, 88893174, 88893177-88893181, 88923166-88923285
488SPG7160.91457286432161204238889574826-89575008, 89598360-89598370, 89598378-89598379, 89598393-89598399, 89620356
489FANCA160.97161172161172124436889805043, 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
490TUBB3160.89135254988914147135389989810-89989866, 90001288-90001293, 90001694-90001699, 90001766, 90001770-90001772, 90001775-90001803, 90001923, 90001926, 90001988, 90001997-90002013, 90002030, 90002140-90002142, 90002145, 90002193-90002212
491PRPF8170.99942922374429470081576406, 1580454-1580455, 1587823
492ASPA170.9936305732484169423402371-3402376
493CTNS170.945968412302586512033559794, 3559851-3559861, 3559879-3559880, 3559979-3559985, 3560005-3560012, 3560025, 3560030, 3560038-3560045, 3560066-3560089, 3564002, 3564006
494CHRNE170.9723346828614114824802140, 4802366, 4802378-4802380, 4802384, 4802596-4802599, 4802602-4802603, 4802613-4802618, 4802624-4802632, 4802635-4802636, 4802661, 4802763-4802766, 4802771-4802772, 4804096-4804097, 4804101-4804102, 4806344
495GP1BA170.9317708333333313119204835901, 4835917-4835919, 4835929-4835942, 4835947-4835957, 4835968, 4835971, 4835974, 4837150-4837172, 4837212-4837232, 4837237, 4837243-4837251, 4837458, 4837470-4837473, 4837595-4837607, 4837744-4837770
496ENO3170.99770114942529313054856376-4856378
497AIPL1170.987878787878791411556330068-6330069, 6330363-6330374
498PITPNM3170.8830769230769234229256358667-6358963, 6360954-6360956, 6381352, 6387050-6387061, 6387559-6387565, 6459705-6459726
499ACADVL170.989329268292682119687123311, 7123452-7123458, 7127802, 7127814-7127818, 7127975, 7127980, 7127983, 7128017-7128020
500CHRNB1170.979415670650733115067348451, 7348487-7348494, 7348503-7348504, 7348608, 7348611-7348619, 7348625, 7348674, 7348726-7348728, 7350217, 7350220, 7350450, 7350453, 7359184
501MPDU1170.97983870967742157447490334-7490335, 7490517-7490529
502GUCY2D170.8164251207729560833127906366-7906845, 7906855-7906893, 7906906-7906912, 7907010-7907021, 7907170-7907180, 7907325-7907357, 7907421-7907426, 7915525, 7915536-7915537, 7915540, 7919800-7919804, 7919814-7919818, 7919829-7919834
503ALOX12B170.962962962962967821067976165-7976174, 7976179-7976180, 7976190-7976200, 7982731, 7982734-7982737, 7982771-7982802, 7982813-7982820, 7983091-7983100
504ALOXE3170.9349250936329613921368012518-8012521, 8013234-8013307, 8013441-8013466, 8013713, 8013716-8013720, 8013737, 8013742-8013744, 8013756, 8013759, 8013768-8013779, 8013782, 8020268-8020269, 8020274-8020281
505HES7170.184365781710915536788024889-8025122, 8025137-8025181, 8025192-8025340, 8025661-8025748, 8026381-8026417
506MYH8170.97712418300654133581410293846, 10293850, 10293860-10293871, 10293874, 10301891-10301957, 10302114-10302161, 10315757, 10315994, 10315997
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620PRKCSH190.91115311909263141158711552128-11552135, 11556208-11556212, 11557108, 11557111, 11557142, 11557957, 11558255-11558258, 11558265, 11558286-11558328, 11558337-11558408, 11558535-11558536, 11558552, 11559959
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628IL12RB1190.997486173956765198918177461-18177464, 18177507
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632HAMP190.99607843137255125535773508
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634COX6B1190.97701149425287626136142233-36142238
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637TYROBP190.9882005899705433936398360, 36398369, 36398372, 36398481
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645BCKDHA190.9439461883408175133841903765-41903807, 41916554-41916555, 41916558-41916583, 41916586-41916587, 41929066, 41930453
646RPS19190.99543378995434243842364876-42364877
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657CRX190.99990048342638-48342643, 48342655, 48342658, 48342665
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660FTL190.958333333333332252849468796-49468817
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664MYH14190.95041728031419303611150713647-50713675, 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
665KCNC3190.471855760773971201227450823503-50823606, 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
666KLK4190.883660130718958976551410249-51410250, 51412004-51412010, 51412525-51412541, 51412545, 51412551, 51412571-51412573, 51412599-51412638, 51412653-51412670
667ETFB190.9385206532180664104151850310, 51856396-51856409, 51856438-51856444, 51857404-51857421, 51857427-51857450
668NLRP12190.9714375392341591318654301543-54301544, 54301652-54301667, 54313093, 54313096, 54313211-54313217, 54313591, 54313597-54313601, 54313611-54313624, 54313631-54313637, 54313658-54313682, 54314389, 54314394, 54314405-54314410, 54314420-54314423
669PRKCG190.8352435530086345209454385749-54385913, 54392916, 54392934-54392938, 54392951, 54392956-54392958, 54392961-54392962, 54392979-54393003, 54393140-54393271, 54401708, 54401816, 54409974, 54410002-54410009
670PRPF31190.9915150054627148, 54627158, 54627883-54627892, 54627932, 54628030, 54631572
671TSEN34190.8681672025723512393354695233-54695240, 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
672NLRP7190.9897238278741232311455450837, 55450937-55450964, 55450971, 55451232, 55451649
673TNNT1190.8428390367553912478955644308, 55648471-55648477, 55648545, 55648548, 55648553, 55648563-55648571, 55652251, 55652286-55652289, 55652294, 55652297-55652309, 55652320-55652328, 55652654, 55657802-55657834, 55658049-55658075, 55658376-55658389, 55658494
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675AURKC190.9989247311828193057746750
676TPO20.9125624553890124528021480858-1480862, 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
677RPS720.93504273504274385853623203-3623226, 3623236-3623246, 3623266-3623267, 3623270
678KLF1120.9714100064977344153910183844-10183885, 10188206, 10188209
679LPIN120.9805462027684252267311911759-11911761, 11911769, 11911787-11911791, 11911796-11911801, 11922529-11922545, 11955319, 11955322-11955323, 11955326-11955333, 11955340-11955348
680MYCN20.65663082437276479139516082187-16082220, 16082304, 16082310, 16082317-16082320, 16082325, 16082373-16082386, 16082396-16082401, 16082405-16082421, 16082463, 16082473-16082492, 16082495-16082500, 16082546-16082909, 16082922-16082931
681MATN320.86789869952088193146120212175-20212184, 20212205-20212275, 20212281-20212392
682APOB20.99276950043821991369221230469, 21247805-21247806, 21247820, 21255239, 21255266-21255270, 21255289-21255292, 21255301-21255303, 21266736-21266817
683POMC20.7325870646766221580425384140-25384146, 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
684HADHA20.9729493891797662229226416476-26416522, 26453152-26453157, 26467425-26467433
685HADHB20.996491228070185142526499978, 26508303-26508304, 26508307, 26508370
686OTOF20.94394394394394336599426684781-26684784, 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
687EIF2B420.994485294117659163227592304, 27592858-27592865
688C2orf7120.979312128264880386729287852, 29287924-29287926, 29293642, 29293645, 29293648-29293652, 29293669-29293684, 29293865, 29293913, 29294038-29294044, 29294053-29294070, 29294097-29294107, 29294485-29294496, 29296480, 29296571-29296572
689ALK20.9798478305572798486329446209-29446210, 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
690XDH20.999500249875062400231609369-31609370
691SRD5A220.902887139107617476231805765, 31805777, 31805825-31805833, 31805839, 31805847-31805850, 31805859, 31805862-31805867, 31805889-31805890, 31805906, 31805909-31805915, 31805920-31805953, 31805959-31805965
692SPAST20.7882225823879392185132288901, 32288923-32288984, 32288991-32289315, 32312621, 32353516-32353518
693CYP1B120.8155637254902301163238301511-38301514, 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
694SOS120.9865067466266954400239222423-39222452, 39222503-39222514, 39239431-39239432, 39241037-39241040, 39241045, 39278300, 39294820-39294823
695ABCG520.9657464212678967195644055148, 44058912, 44058920, 44058946-44058960, 44058979-44058989, 44058993-44059005, 44059101-44059106, 44059124-44059127, 44059193-44059195, 44059201-44059202, 44059204-44059210, 44059220-44059222
696ABCG820.998021760633044202244102366-44102367, 44102378-44102379
697LRPPRC20.9870967741935554418544202334-44202336, 44209465, 44209477, 44222938-44222943, 44222949-44222955, 44222984, 44222987-44222991, 44222997, 44223026-44223050, 44223072-44223075
698SIX320.6546546546546534599945169304-45169381, 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
699EPCAM20.955555555555564294547596645-47596647, 47596653-47596654, 47596661-47596662, 47596673-47596705, 47601088, 47601106
700MSH220.9739750445632873280547630446-47630453, 47630461-47630497, 47630506-47630526, 47639604, 47639607, 47639653, 47641417, 47702305, 47702400, 47710019
701MSH620.93632133235366260408348010373-48010632
702LHCGR20.9842857142857133210048982651, 48982667-48982668, 48982676-48982679, 48982682-48982688, 48982755-48982758, 48982761, 48982763-48982776
703NRXN120.90915254237288402442550149314-50149353, 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
704EFEMP120.9750337381916337148256102098-56102103, 56102108-56102116, 56102125-56102129, 56102143, 56102153-56102154, 56102165-56102170, 56102177, 56102181, 56102193-56102196, 56103877, 56144994
705FANCL20.9884751773049613112858392892-58392904
706ATP6V1B120.9675745784695250154271163085-71163098, 71163107-71163108, 71163111-71163115, 71163120-71163126, 71170821, 71187190-71187196, 71187201-71187208, 71188051, 71188054, 71188059, 71191891, 71191894, 71191901
707MCEE20.98681732580038753171337182-71337188
708DYSF20.9981132075471712636071693973-71693976, 71693983, 71693986, 71753426-71753430, 71753448
709SPR20.6959287531806623978673114562-73114728, 73114758-73114767, 73114778-73114821, 73114825-73114830, 73114834-73114839, 73114849-73114854
710ALMS120.988803582853491401250473612997-73613012, 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
711SLC4A520.9903339191564133341474460581, 74460602-74460604, 74479494, 74491370, 74513011-74513029, 74531616-74531623
712DCTN120.991399530883533383774588676, 74588679, 74590529-74590532, 74593665, 74598130-74598132, 74598769, 74598773-74598780, 74598782-74598787, 74598790-74598796, 74605353
713MOGS20.9717581543357271251474689082-74689086, 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
714HTRA220.7683369644154319137774757134-74757146, 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
715SUCLG120.9337175792507269104184660521-84660530, 84668420-84668425, 84668430-84668441, 84686306-84686346
716GGCX20.9903381642512122227785780536, 85781412-85781413, 85785684, 85788002, 85788509-85788512, 85788519-85788531
717SFTPB20.9860383944153616114685892790-85892795, 85895264-85895266, 85895269-85895275
718REEP120.942244224422443560686481872-86481874, 86564602-86564633
719EIF2AK320.95732617129215143335188926551, 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
720RPIA20.99145299145299893688991238, 88991250, 88991253-88991256, 88991269-88991270
721TMEM12720.7461645746164618271796930876-96930922, 96930927-96930929, 96930932-96930937, 96930967-96931001, 96931008-96931023, 96931033-96931064, 96931077-96931119
722SNRNP20020.9979722352207113641196955082-96955094
723ZAP7020.9252688172043139186098340510, 98340520, 98340621-98340654, 98340714-98340723, 98340740, 98340751, 98340809-98340861, 98340874-98340901, 98341656, 98349771, 98351150, 98354041-98354043, 98354068, 98354076, 98354232, 98355839
724RANBP220.974883720930232439675109336063-109336082, 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
725NPHP120.9995083579154412034110962505
726MERTK20.97633333333333713000112656313-112656373, 112740551, 112786289-112786296, 112786309
727PAX820.9992609016999311353113999683
728GLI220.808863684099989104761121554901-121554908, 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
729BIN120.9618406285073681782127808394-127808397, 127808400, 127808408-127808411, 127808483-127808487, 127808730-127808736, 127808774-127808781, 127809843, 127811586-127811588, 127816623-127816629, 127816636-127816640, 127864436-127864455, 127864517-127864519
730PROC20.831890331890332331386128178898-128178899, 128178902, 128178905, 128178910, 128180493-128180517, 128180610-128180747, 128180852-128180853, 128180866-128180869, 128180872, 128180895-128180952
731CFC120.59077380952381275672131279058-131279080, 131279644-131279653, 131279676, 131279681, 131279687-131279688, 131280363-131280477, 131280742-131280768, 131280800-131280846, 131285286-131285328, 131285380-131285382, 131285401, 131285428, 131285441
732RAB3GAP120.9986422267481342946135815597-135815598, 135878466, 135884203
733LCT20.9994813278008335784136567446, 136575584-136575585
734MCM620.9728304947283672466136602160, 136608983-136608984, 136615468, 136615479, 136616938-136616947, 136616952-136616954, 136633873-136633921
735ZEB220.97969821673525743645145147387, 145274845-145274917
736MMADHC20.998877665544331891150436052
737NEB20.99499349153910019974152382702, 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
738CACNB420.96737044145873511563152954922-152954927, 152955469-152955498, 152955511-152955525
739SCN2A20.976071784646061446018166171989-166172009, 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
740GALNT320.9984227129337531902166611236-166611237, 166621540
741SCN1A20.98966149741537625997166848763-166848766, 166848790-166848809, 166848838-166848844, 166903452-166903481, 166909426
742SCN9A20.9912369396697525934167060923, 167060926-167060928, 167083161-167083171, 167085411-167085421, 167089856, 167089866-167089871, 167089883-167089886, 167089946, 167089960-167089964, 167089971-167089972, 167133595, 167141103, 167141108-167141112
743ABCB1120.9989914271306143966169789016, 169851942-169851944
744SLC25A1220.99165439371625172037172644397, 172644423, 172683339-172683342, 172683350-172683353, 172683361-172683365, 172750715-172750716
745ITGA620.940476190476191953276173292517-173292698, 173338872-173338884
746CHN120.98623188405797191380175869622-175869640
747HOXD1320.675387596899223351032176957619-176957855, 176957871-176957880, 176957891-176957895, 176957905-176957923, 176957940-176957977, 176957983, 176957987-176957989, 176958046-176958047, 176958058-176958069, 176958272-176958279
748AGPS20.904906423874561881977178257554-178257567, 178257591-178257609, 178257614-178257616, 178257631-178257636, 178257648, 178301551-178301554, 178301557, 178301566, 178346788-178346791, 178346814-178346820, 178346830-178346850, 178346859-178346898, 178362417-178362438, 178362447-178362491
749PRKRA20.9002123142250594942179306386-179306402, 179312277-179312280, 179312286-179312293, 179315693-179315757
750TTN20.99879299337643121100248179392348-179392359, 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
751CERKL20.936210131332081021599182403991, 182423326, 182521496-182521503, 182521517-182521545, 182521575-182521588, 182521608-182521627, 182521654-182521682
752NEUROD120.97292250233427291071182542607, 182542610, 182542834, 182542838-182542839, 182542941-182542963, 182543213
753COL3A120.951374687571012144401189850432-189850438, 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
754COL5A220.99177777777778374500189899813, 189909950-189909952, 189910555-189910559, 189910573, 189910578, 189914123, 189916078-189916081, 189916181-189916187, 189916898, 189916901-189916907, 189918172-189918174, 189932778, 189932831, 189962020
755SLC40A120.9982517482517531716190436524-190436526
756PMS120.98320828867453472799190656643-190656646, 190718795, 190718972-190718979, 190719106, 190719112, 190719119-190719121, 190719125-190719126, 190719170, 190719174, 190728721-190728745
757STAT120.96138482023968872253191843647-191843678, 191848409-191848413, 191855996, 191859787-191859800, 191859823-191859824, 191859830, 191859848-191859850, 191859859-191859862, 191859886-191859895, 191859899-191859913
758HSPD120.9994192799070811722198351804
759CASP1020.998725302740621569202050671, 202050677
760CASP820.9987631416202821617202137494-202137495
761ALS220.99718536389224144974202572678, 202575821, 202593336, 202593339-202593343, 202622156, 202622409-202622411, 202626358, 202626369
762BMPR220.99647096567212113117203242250-203242253, 203242261-203242266, 203332317
763ICOS20.996666666666672600204822605-204822606
764NDUFS120.98672161172161292184206988957, 206991310-206991329, 206992538, 206992596-206992599, 207012521, 207018351, 207018385
765FASTKD220.99109235818097192133207652742-207652747, 207652755-207652765, 207652772, 207652787
766ACADL20.98298530549111221293211057584, 211089911-211089919, 211089930-211089941
767CPS120.9988896291361354503211455625-211455626, 211464253, 211464256, 211540503
768ABCA1220.99409347714432467788215797408-215797409, 215797438, 215797443, 215809798, 215809805, 215809818, 215812175-215812178, 215812183-215812187, 215813815-215813818, 215846911-215846920, 215854074-215854075, 215854081, 215854084-215854085, 215854284, 215854287-215854288, 215901724, 215901771-215901777
769SMARCAL120.98987783595113292865217285114-217285115, 217285120, 217315613, 217315617-217315620, 217347544-217347558, 217347564-217347569
770PNKD20.9853195164076171158219204547, 219204568-219204577, 219204593-219204594, 219204596-219204597, 219204754, 219209623
771BCS1L20.9992063492063511260219527320
772CYP27A120.97994987468672321596219646920-219646926, 219646933-219646948, 219646951, 219646954-219646956, 219646964, 219647004-219647007
773WNT10A20.771132376395532871254219745727-219745825, 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
774DES20.845718329794762181413220283225, 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
775OBSL120.7768406255491112705691220416253, 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
776PAX320.97496706192358381518223161798, 223163257-223163293
777COL4A420.98736176935229645064227872906, 227875100, 227886804, 227886823, 227907817, 227907829-227907830, 227920745-227920747, 227942645-227942649, 227942662-227942671, 227942695-227942700, 227942708, 227942711-227942719, 227953401-227953421, 227958867, 227985764
778COL4A320.979054458408141055013228029453-228029454, 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
779SLC19A320.9953051643192571491228563959-228563961, 228563966-228563967, 228563977, 228563982
780CHRND20.9948519948519981554233390937-233390944
781CHRNG20.98069498069498301554233404477, 233404494, 233409119-233409137, 233409530-233409534, 233409537, 233409590, 233409594, 233409597
782SAG20.999178981937611218234243651
783UGT1A120.98689138576779211602234668950-234668954, 234668958-234668959, 234668963-234668966, 234668976-234668985
784COL6A320.986679253199081279534238243363, 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
785AGXT20.99151823579304101179241808303, 241808354, 241816985-241816992
786D2HGDH20.780970625798213431566242674640-242674657, 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
787C20orf54200.92907801418441001410741760-741809, 741847, 744308, 744323, 744326-744333, 744354-744389, 745973-745975
788AVP200.242424242424243754953063276-3063448, 3063623-3063824
789PANK2200.6876824284880353517133869753-3869754, 3869757-3869759, 3869778, 3869782-3869792, 3869794-3869796, 3869813-3869851, 3869865-3870058, 3870069, 3870077-3870141, 3870152-3870164, 3870173-3870375
790PRNP200.9934383202099757624680079, 4680082, 4680089-4680090, 4680093
791FERMT1200.994100294985251220346060162-6060173
792JAG1200.95761553185671155365710620508-10620510, 10620517, 10653457, 10653463, 10653466, 10653555-10653598, 10653632-10653654, 10654098-10654178
793C20orf7200.9874759152215813103813765743, 13765761, 13782144-13782145, 13782208-13782216
794THBD200.64409722222222615172823028446-23028451, 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
795SNTA1200.80895915678524290151832031117-32031119, 32031140-32031426
796GDF5200.9528552456839371150634021829-34021835, 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
797SAMHD1200.9723551302498752188135579877-35579928
798HNF4A200.9929824561403510142543057063-43057070, 43058198-43058199
799ADA200.9441391941391961109243255146-43255147, 43255150-43255153, 43257752-43257773, 43280216-43280248
800CTSA200.9792919171676731149744520224, 44520238-44520240, 44520245-44520253, 44520326, 44520329, 44520338-44520341, 44523360-44523366, 44523640-44523644
801SLC2A10200.9889298892988918162645338376-45338379, 45354189-45354192, 45354548, 45354551, 45354660-45354664, 45354898, 45354902-45354903
802DPM1200.99489144316731478349575027-49575030
803SALL4200.9807084123972261316250407025, 50407367, 50408321, 50408339-50408350, 50408402, 50408601, 50418818-50418856, 50418881-50418884, 50418934
804VAPB200.92076502732245873256964516-56964573
805STX16200.987730061349691297857244387-57244398
806GNAS200.906504065040656973857415181, 57415184, 57415190-57415195, 57415201-57415210, 57415237-57415241, 57415254-57415255, 57415280, 57415311-57415352, 57415807
807GNAS200.78066795118818683311457428427, 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
808EDN3200.984658298465831171757875876, 57875914-57875919, 57896242-57896245
809COL9A3200.92506082725061154205561448417-61448494, 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
810CHRNA4200.86252653927813259188461981144-61981145, 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
811KCNQ2200.82512409316533458261962037997-62037998, 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
812SOX18200.0917748917748921049115562679530-62679541, 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
813APP210.9723303069606664231327354731, 27354736-27354738, 27423426, 27423429, 27484411, 27542882-27542938
814BACH1210.9941203075531413221130693730-30693731, 30714972, 30715017-30715021, 30715029-30715031, 30715063, 30715066
815SOD1210.933333333333333146533032102-33032132
816IFNGR2210.9280078895463573101434775850-34775922
817KCNE2210.99731182795699137235742807
818RCAN1210.6548089591567926275935895885-35895894, 35987059-35987310
819RUNX1210.83853083853084233144336164432-36164466, 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
820CLDN14210.979166666666671572037833296, 37833386-37833392, 37833982-37833988
821HLCS210.9954149472718910218138309286-38309295
822TMPRSS3210.99706959706964136543800262-43800265
823CBS210.99879227053142165644480616, 44482424
824CSTB210.777777777777786629745196085-45196150
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913PLD130.9993798449612423225171338216, 171379940
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916MCCC130.98852157943067252178182789034, 182804489-182804491, 182804496, 182804513-182804530, 182817216, 182817223
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921CCDC5030.9993098688750911449191107333
922OPA130.999015748031533048193311167, 193354984, 193365893
923CPN230.99206349206349131638194061870-194061874, 194061950-194061957
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930DOK740.73265651438241585913494532-3494554, 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
931MSX140.494517543859654619124861627-4861977, 4861990-4862001, 4862018-4862029, 4862070-4862090, 4864445, 4864502-4864503, 4864506-4864513, 4864516, 4864749-4864778, 4864791-4864813
932EVC240.976827094474159139275564590, 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
933EVC40.9076871433366927529795713108-5713273, 5754734, 5795418-5795420, 5795437, 5795440, 5795444, 5800354-5800364, 5800376-5800406, 5800434-5800468, 5803738, 5809928-5809937, 5809986, 5809989-5809990, 5809999-5810009
934WFS140.9322858211747118126736279357, 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
935SLC2A940.966728280961185416239922069-9922098, 9922127-9922133, 9982217-9982226, 10020633-10020637, 10020651, 10022988
936CC2D2A40.998149290561389486315518330, 15539687-15539690, 15591214, 15591228-15591229, 15591241
937PROM140.999230177059282259816008282, 16020087
938QDPR40.8544217687074810773517503386-17503387, 17513573-17513677
939CNGA140.93070175438596158228047954609-47954707, 47972914-47972919, 47972934-47972935, 47972959, 47972969-47972982, 47973019-47973023, 47973032, 47973038, 47973052-47973053, 47973058-47973067, 47973070-47973080, 47973094, 47973100-47973104
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942KIT40.981235073353855293155524182, 55524185-55524216, 55524235-55524248, 55573402-55573403, 55602732-55602737
943GNRHR40.99696048632219398768606377, 68606381, 68606427
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945ALB40.9836065573770530183074275132-74275146, 74279185-74279189, 74279198-74279202, 74279242-74279246
946COQ240.9004329004329115115584193260-84193265, 84205708, 84205715-84205717, 84205739-84205753, 84205756-84205768, 84205786-84205790, 84205793, 84205797-84205806, 84205824-84205826, 84205845-84205855, 84205857-84205900, 84205902, 84205907, 84205947
947CDS140.9393939393939484138685504573, 85504602-85504605, 85504613, 85504616-85504618, 85555028, 85555041, 85555048, 85555064-85555088, 85556462-85556504, 85562063, 85562102, 85569751, 85569771
948PKD240.81699346405229532290788928886-88929401, 88929429-88929438, 88929451, 88929469, 88983151-88983154
949SNCA40.867612293144215642390749294-90749335, 90756702-90756708, 90756767-90756773
950MTTP40.9981378026070852685100512862, 100530007-100530010
951MANBA40.99280303030303192640103681883-103681887, 103681902, 103682019, 103682028-103682033, 103682036-103682041
952CISD240.9705882352941212408103790283, 103808512-103808522
953TACR340.97997138769671281398104640735-104640736, 104640785, 104640788-104640812
954HADH40.994708994708995945108911099, 108911123, 108911207, 108911210, 108911215
955CFI40.98915525114155191752110673639, 110673648, 110723087, 110723098-110723107, 110723112-110723114, 110723117-110723119
956GAR140.996941896024462654110737403-110737404
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958ANK240.996125989557024611874114095593-114095595, 114161705, 114170933-114170936, 114177020-114177024, 114213646-114213651, 114232495-114232515, 114253216-114253218, 114257783-114257784, 114257929
959BBS740.99162011173184182148122775872-122775875, 122775886-122775890, 122775896, 122775899, 122782756-122782760, 122782769-122782770
960MFSD840.97302504816956421557128859938-128859967, 128859982-128859993
961MMAA40.99124900556881111257146567243-146567253
962NR3C240.99153976311337252955149075961-149075983, 149075996-149075997
963LRAT40.9956709956713693155665917-155665919
964CTSO40.9089026915113988966156860560-156860562, 156860580, 156860597, 156860607, 156874865-156874908, 156874938-156874952, 156874956-156874957, 156874962-156874966, 156874971-156874984, 156874990-156874991
965GLRB40.96787148594378481494158041721-158041727, 158041763-158041766, 158041813-158041814, 158057762-158057775, 158060017, 158060021-158060030, 158060042, 158060059, 158091788-158091795
966GK40.94163658243081971662166199386-166199432, 166200025-166200066, 166200118, 166200757-166200763
967SLC25A440.87513935340022112897186064527-186064637, 186066162
968SDHA50.929323308270681411995218471-218533, 228362, 231045-231051, 231111, 236628-236656, 251143-251149, 254571-254602, 256509
969SLC6A1950.977952755905514219051201766-1201771, 1201955, 1201959-1201967, 1208941, 1210559-1210561, 1214084-1214087, 1216998-1217002, 1219681-1219693
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971SLC6A350.98013955984973718631403186-1403204, 1414806, 1414817-1414821, 1414875-1414885, 1443151
972SDHA50.84097859327217523271594510, 1594519-1594569
973NDUFS650.9973333333333313751801536
974MTRR50.974747474747475521787869254-7869299, 7885959, 7886770, 7897309-7897315
975DNAH550.978522522522522981387513717624-13717629, 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
976ANKH50.996619337390135147914769252-14769256
977FAM134B50.80522088353414291149416479065-16479066, 16483465-16483495, 16616761-16616787, 16616790-16616795, 16616818-16616860, 16616864-16616876, 16616881-16616884, 16616887-16616891, 16616894-16616916, 16616934-16616936, 16616947-16617080
978SLC45A250.9905838041431315159333944926, 33954584-33954588, 33984408, 33984437, 33984461-33984463, 33984474-33984477
979AMACR50.9721496953872932114934007878-34007879, 34007884-34007888, 34007903-34007906, 34007929-34007930, 34007935-34007936, 34007942, 34007975-34007976, 34007987-34007990, 34008008-34008017
980NIPBL50.98502673796791126841536995772, 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
981LIFR50.9921068609593226329438482694-38482702, 38482707-38482713, 38489217-38489218, 38490327, 38490359, 38490363, 38506007-38506009, 38506014, 38506152
982OXCT150.9737683941138841156341862773-41862805, 41862818-41862825
983FGF1050.95853269537482662744388711-44388736
984ITGA250.9819514946418564354652285299-52285352, 52351978-52351979, 52361699-52361701, 52368998, 52386417, 52386422-52386424
985MOCS250.99625468164794126752405554
986ERCC850.9697732997481136119160186757, 60186817, 60186821, 60186824, 60198323, 60200625-60200638, 60200645-60200646, 60200653, 60200677-60200684, 60240801-60240802, 60240810, 60240822, 60240825, 60240835
987NDUFAF250.937254901960783251060448576-60448606, 60448728
988SMN250.922033898305086988569345530, 69362945-69362961, 69366552, 69366568, 69372350-69372398
989SMN250.938983050847465488570220931-70220963, 70238369-70238385, 70241977, 70241993, 70247811-70247812
990MCCC250.9893617021276618169270883281-70883283, 70883307-70883320, 70883349
991HEXB50.8850987432675192167173981086-73981173, 73981190-73981257, 73981262-73981271, 73981281-73981282, 73981337-73981342, 73981345-73981362
992AP3B150.9531202435312154328577311343, 77311346-77311350, 77311363, 77406084, 77411972-77412015, 77458680-77458705, 77461462-77461467, 77461490, 77461493-77461496, 77521409-77521410, 77524006, 77536722, 77536741, 77536745-77536757, 77563344, 77563347, 77563371-77563415
993ARSB50.80524344569288312160278280760-78281071
994VCAN50.99892061623001111019182786188-82786192, 82786194, 82808075, 82808081-82808082, 82808098, 82836259
995RASA150.93352417302799209314486564306-86564310, 86564320-86564321, 86564324, 86564332-86564337, 86564340, 86564408, 86564536-86564566, 86564707-86564710, 86669980-86670137
996MEF2C50.997890295358653142288024345, 88024348, 88119566
997GPR9850.988478410232022181892189854713-89854717, 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
998PCSK150.9911582670203420226295729007-95729009, 95729014-95729019, 95729027-95729030, 95733070-95733073, 95733083, 95733086-95733087
999WDR3650.98249299719888502856110428189, 110428192, 110434434-110434454, 110436310-110436316, 110436322, 110436381, 110438088, 110439575, 110448806, 110459505-110459511, 110459551, 110459828, 110459848, 110459880, 110461371, 110462482-110462484
1000APC50.9994139709329658532112090592, 112128212, 112128215-112128217
1001HSD17B450.9986431478968832211118788281, 118835133-118835134
1002ALDH7A150.98333333333333271620125890023, 125930853-125930878
1003LMNB150.876774559909142171761126113201-126113313, 126113327-126113333, 126113377-126113380, 126113410-126113415, 126113428-126113509, 126113529-126113530, 126141320-126141321, 126141330
1004FBN250.972880192241682378739127610322-127610323, 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
1005SLC22A550.916367980884111401674131705665-131705693, 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
1006TGFBI50.95175438596491992052135364745-135364789, 135364811-135364812, 135364820, 135364823-135364852, 135364859-135364867, 135364875-135364876, 135382161-135382166, 135382988, 135382999, 135388599, 135392355
1007MYOT50.93987975951904901497137221737-137221752, 137221759-137221781, 137221784, 137221803-137221805, 137221854-137221875, 137221878-137221888, 137222932, 137222935-137222944, 137222951, 137222965, 137223026
1008SIL150.99134199134199121386138282919-138282922, 138282931, 138283065, 138287498-138287503
1009MATR350.99174528301887212544138643129, 138643159-138643161, 138643168, 138643183-138643185, 138651801, 138651842, 138651852-138651854, 138651858, 138658509, 138658512-138658514, 138658630-138658632
1010SRA150.978902953586515711139930422-139930431, 139930442-139930446
1011DIAPH150.91332809636033313819140896520-140896522, 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
1012POU4F350.96558505408063351017145719166, 145719179, 145719323, 145719381, 145719387-145719391, 145719489-145719500, 145719527-145719534, 145719556, 145719558-145719562
1013PPP2R2B50.9992492492492511332146077559
1014ADRB250.9935587761674781242148207251, 148207416-148207422
1015SH3TC250.9981898112231773867148407056, 148407388-148407391, 148407708-148407709
1016PDE6A50.99574138598529112583149240492, 149240500-149240502, 149283227-149283233
1017SLC26A250.999099099099122220149361168-149361169
1018TCOF150.976354453627181034356149737310-149737319, 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
1019GM2A50.998281786941581582150647012
1020SGCD50.996551724137933870156186309-156186311
1021NIPAL450.922912205567451081401156887219-156887264, 156887272-156887308, 156887320-156887321, 156887325-156887329, 156887331-156887337, 156887344, 156887347-156887348, 156887354, 156887357-156887363
1022IL12B50.998986828774061987158749410
1023GABRG250.98772609819121191548161495084-161495092, 161495097-161495098, 161495101, 161530914-161530920
1024NKX2-550.86564102564103131975172659689-172659691, 172659720-172659721, 172659830, 172659892-172659940, 172660050-172660052, 172660105, 172660116, 172660126-172660156, 172661818-172661827, 172661859-172661868, 172661876, 172661885, 172661890, 172661893, 172661896-172661905, 172661909, 172661970-172661974
1025MSX250.83706467661692131804174151736-174151745, 174151758-174151763, 174151766, 174151769-174151774, 174151791-174151800, 174151806-174151807, 174151810-174151811, 174151824, 174151832-174151840, 174151846-174151848, 174151851-174151877, 174151885-174151906, 174151914-174151945
1026NSD150.99221357063404638091176618910-176618956, 176694717, 176710857-176710867, 176721053-176721056
1027F1250.9707903780068717582176830298, 176830308, 176830314-176830315, 176830360-176830367, 176830372-176830376
1028F1250.936147186147191181848176830298, 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
1029PROP150.997063142437592681177422848, 177422855
1030NHP250.9956709956712462177580705, 177580769
1031GRM650.813971146545184902634178413301, 178413947, 178415982, 178416014-178416016, 178416023-178416042, 178421447-178421460, 178421464-178421468, 178421501-178421945
1032SQSTM150.832199546485262221323179247937-179248141, 179260136-179260145, 179260150-179260156
1033FLT450.928885630498532914092180030345-180030350, 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
1034FOXC160.3158844765343113716621610681-1610684, 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
1035TUBB2B60.8781763826606916313383225035, 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
1036DSP60.994777158774374586167542158-7542188, 7542226-7542229, 7542257-7542260, 7585942-7585945, 7585960, 7585967
1037TFAP2A60.977929984779329131410398809, 10404761-10404770, 10404791-10404800, 10404811-10404812, 10410292, 10410341, 10410348-10410351
1038GCM260.999342537804081152110877473
1039DTNBP160.9356060606060668105615533472, 15533475-15533476, 15627620-15627624, 15651567, 15651581-15651583, 15663045-15663100
1040ATXN160.92851307189542175244816306884, 16327497-16327500, 16327504, 16327514, 16327535, 16327585, 16327594-16327603, 16327847-16327958, 16327961, 16327995-16328024, 16328384-16328392, 16328419-16328422
1041NHLRC160.8493265993266179118818122106-18122107, 18122129, 18122233, 18122410-18122444, 18122468-18122472, 18122520-18122529, 18122545-18122573, 18122613, 18122616, 18122646-18122690, 18122706-18122731, 18122797-18122819
1042ALDH5A160.8615664845173228164724495261, 24495264, 24495274-24495485, 24495496-24495499, 24495521-24495527, 24495529-24495530, 24495541
1043ZFP5760.99193047796413161129640326-29640330, 29640582-29640589
1044HLA-H60.8466666666666711575029855805-29855885, 29855966, 29856330, 29856338-29856347, 29856353-29856365, 29856415-29856422, 29856427
1045NEU160.9695512820512838124831829940-31829949, 31829959-31829964, 31830506-31830518, 31830524, 31830527-31830534
1046TNXB60.90565059616382182192931976391-31976396, 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
1047CYP21A260.9415322580645287148832006200-32006217, 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
1048TNXB60.960955298923724971272932009126-32009144, 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
1049HLA-DQA160.924479166666675876832605236-32605237, 32605257, 32605274, 32605284, 32605295, 32605309, 32609169, 32609173, 32609181, 32609216, 32609219-32609222, 32609231-32609241, 32609286, 32609299, 32609312, 32609749, 32610005-32610012, 32610387-32610406
1050HLA-DQB160.5279898218829537178632628022, 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
1051COL11A260.9316829783151356521133131501-33131523, 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
1052SYNGAP160.84771825396825614403233388042-33388108, 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
1053FANCE60.90068280571074160161135420323-35420431, 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
1054TULP160.9674647022713353162935478652-35478654, 35479463, 35479532-35479535, 35479957-35479991, 35480000, 35480004-35480007, 35480014-35480016, 35480019, 35480022
1055LHFPL560.99848484848485166035773454
1056MOCS160.9874411302982724191139874281-39874290, 39874298-39874304, 39874715, 39874723, 39874728-39874730, 39874734-39874735
1057GUCA1A60.9950495049505360642141501, 42141505, 42141508
1058GUCA1B60.9983416252073160342156321
1059PRPH260.9788664745437122104142666061, 42672153-42672160, 42672167-42672173, 42672193-42672197, 42672212
1060PEX660.87393815834183371294342946099-42946129, 42946355-42946372, 42946406-42946437, 42946454, 42946458-42946471, 42946477-42946484, 42946521-42946525, 42946528, 42946534-42946535, 42946548-42946555, 42946579-42946829
1061CUL760.9950951540121625509743008327-43008333, 43008339, 43008342-43008344, 43008350-43008351, 43008728-43008729, 43008803-43008804, 43016143, 43016146-43016151, 43018889
1062RSPH960.895306859205788783143612845-43612847, 43612852, 43612858, 43612861, 43612867-43612872, 43612880, 43612901-43612914, 43612916-43612919, 43612968-43612998, 43613038-43613062
1063RUNX260.85185185185185232156645390330-45390536, 45390644, 45390647, 45480005-45480008, 45480026, 45480058-45480068, 45480089-45480093, 45514862, 45514865
1064CD2AP60.997916666666674192047541921, 47563645, 47563692, 47573932
1065MUT60.975144252108356225349403269-49403271, 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
1066PKHD160.99795501022495251222551484047, 51484050, 51484071, 51484133-51484139, 51497395, 51618002, 51618005, 51618010, 51799113-51799120, 51824819-51824820, 51927380
1067EYS60.98378378378378153943564498055, 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
1068LMBRD160.9661121380160255162370410717-70410750, 70410761, 70506705-70506709, 70506717, 70506723-70506724, 70506732-70506741, 70506754, 70506758
1069COL9A160.999638467100511276670966504
1070RIMS160.92833234888758364507972596733-72596773, 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
1071SLC17A560.9361559139784995148874331657, 74363516-74363609
1072MYO660.998963193364444385876551047, 76602375, 76602378, 76602386
1073LCA560.9933142311365814209480196851, 80196854-80196856, 80196880-80196884, 80202337, 80223273, 80228469-80228471
1074ELOVL460.9968253968254394580656990-80656992
1075BCKDHB60.9516539440203657117980816430, 80878611-80878614, 80878617, 80878623-80878630, 80878640, 80880999-80881004, 80881062-80881097
1076SLC35A160.9881656804733712101488182728-88182730, 88182735, 88218249-88218256
1077RARS260.998272884283253173788228571, 88231204, 88231241
1078NDUFAF460.93753352897338980-97338990, 97339102-97339103, 97339133, 97339154-97339159, 97339162-97339170, 97339189-97339192
1079SIM160.998696219035232301100868709, 100897272, 100901686
1080PDSS260.997531200107780288, 107780295-107780296
1081SEC6360.944809461235221262283108194066, 108194076, 108194091-108194093, 108197857-108197866, 108243093-108243096, 108279107-108279213
1082OSTM160.90547263681592951005108375787-108375788, 108395543, 108395575-108395579, 108395582, 108395586-108395591, 108395599, 108395643, 108395713, 108395718, 108395738-108395742, 108395760-108395761, 108395764-108395812, 108395815-108395822, 108395837-108395848
1083FIG460.9977973568281962724110112654-110112659
1084WISP360.9991063449508511119112389451
1085COL10A160.99167890357318172043116441745, 116441748, 116441997-116441999, 116442294, 116442349, 116442363-116442369, 116443070, 116443075, 116443115
1086RSPH4A60.9972105997210662151116938382-116938386, 116938439
1087GJA160.98955613577023121149121768922-121768928, 121769109, 121769112-121769115
1088LAMA260.99049449962619899363129419444-129419450, 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
1089ARG160.998968008255931969131904227
1090ENPP160.89632829373652882778132129176-132129279, 132129288-132129293, 132129307, 132129309-132129313, 132129317-132129325, 132129332-132129379, 132129399, 132171185-132171190, 132176106-132176112, 132203485-132203584, 132204842
1091EYA460.990625181920133767866-133767873, 133769265-133769268, 133769271-133769272, 133769275-133769276, 133777720, 133783604
1092AHI160.99693678641047113591135715977, 135759628-135759636, 135763755
1093PEX760.83024691358025165972137143804-137143933, 137167216, 137167247-137167257, 137167261-137167280, 137167298, 137167311, 137167318
1094PEX360.98484848484848171122143792107-143792110, 143792121-143792127, 143792130, 143792133-143792137
1095PLAGL160.999281609195411392144263574
1096STX1160.69907407407407260864144507783-144507818, 144507840-144507842, 144507904-144507950, 144507981-144508022, 144508076-144508082, 144508095-144508146, 144508379-144508427, 144508436-144508442, 144508605-144508608, 144508612-144508613, 144508618-144508628
1097EPM2A60.70381526104418295996145948801-145948805, 145948809, 146056334-146056604, 146056617-146056634
1098IYD60.973563218390823870150719241-150719263
1099SYNE160.9945442145942314426394152461200, 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
1100PARK260.96351931330472511398161969940-161969987, 162683613-162683615
1101TBP60.861764705882351411020170871007-170871109, 170871117-170871136, 170871164-170871181
1102LFNG70.5938596491228146311402559496-2559905, 2564870-2564873, 2564890, 2564898, 2565098-2565134, 2565153, 2565914, 2565917, 2566024-2566027, 2566030, 2566033, 2566036
1103PMS270.977597528003095825896013045-6013052, 6013149-6013156, 6022479-6022481, 6022487-6022488, 6022619-6022622, 6026439, 6026595-6026601, 6026955-6026963, 6026988, 6027002, 6029455, 6038791-6038792, 6045526, 6048628-6048637
1104TWIST170.3776683087027937960919156402, 19156547-19156572, 19156576-19156587, 19156589, 19156593-19156594, 19156608-19156944
1105DNAH1170.983642793987622221357221582897-21582935, 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
1106FAM126A70.994252873563229156622985208-22985216
1107KLHL770.99545712663268176123213815-23213822
1108DFNA570.9818913480885327149124742426-24742441, 24745952-24745953, 24747861-24747869
1109HOXA170.9871031746031713100827134923-27134924, 27135317-27135319, 27135340, 27135403-27135404, 27135409-27135413
1110HOXA1370.53041988003428548116727238859, 27238910, 27238913-27238917, 27238925-27238926, 27239080, 27239097, 27239101-27239115, 27239134-27239165, 27239207-27239696
1111GARS70.9774774774774850222030634574-30634602, 30634644-30634646, 30634649-30634650, 30634653-30634657, 30634661, 30634668, 30634680, 30634683-30634685, 30634752-30634754, 30649235, 30651800
1112GHRHR70.9858490566037718127231008694-31008711
1113RP970.7702702702702715366633136970, 33148833-33148984
1114BBS970.9924924924924920266433192429, 33303947-33303950, 33303959-33303966, 33397552-33397553, 33545168, 33545173, 33644581-33644583
1115TXNDC370.998302207130733176737907441, 37936557-37936558
1116GLI370.92199030149694370474342004644, 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
1117GCK70.9600285510349756140144185166, 44185170, 44185174, 44185181-44185185, 44185195, 44185217-44185245, 44186080-44186093, 44187324, 44192951-44192953
1118CCM270.9468164794007571133545039933-45039962, 45113895-45113927, 45113987-45113994
1119DDC70.9986139986142144350597000, 50597004
1120EGFR70.96614368290669123363355086971-55087058, 55214362, 55220280-55220282, 55220288-55220290, 55220293-55220297, 55220299, 55220301, 55229240, 55229243-55229248, 55240791-55240803, 55249005
1121GUSB70.9544989775051189195665439317-65439320, 65439657-65439669, 65445279, 65446961-65446983, 65446993-65447031, 65447162-65447170
1122ASL70.92831541218638100139565551757, 65553794-65553826, 65553887, 65554078-65554086, 65554095, 65554110, 65554130-65554162, 65554301-65554307, 65554318-65554322, 65557835, 65557838, 65557841, 65557844-65557848, 65557862
1123KCTD770.8344827586206914487066094052-66094195
1124SBDS70.984063745019921275366456158-66456164, 66460277-66460281
1125NCF170.934545454545455482572639983-72639989, 72640033-72640039, 72643704-72643710, 72644230-72644236, 72648725-72648750
1126FKBP670.9989837398374198472742627
1127ELN70.94390804597701122217573442518-73442529, 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
1128NCF170.76555839727195275117374193639-74193672, 74202410-74202432, 74202903-74202924, 74202935-74203048, 74203383-74203444, 74203455, 74203464-74203466, 74203489-74203504
1129POR70.94126284875184120204375583470, 75614097-75614098, 75614101-75614105, 75614210-75614252, 75614265, 75614268-75614273, 75614426-75614485, 75614509, 75615162
1130HSPB170.7669902912621414461875932034-75932039, 75932061-75932067, 75932086-75932093, 75932168-75932183, 75932195-75932196, 75932204-75932210, 75932251, 75932254-75932292, 75932299-75932310, 75932352, 75932356, 75933439-75933482
1131CD3670.9859055673009220141980285981-80285989, 80285995, 80286000, 80286008-80286012, 80302123-80302126
1132HGF70.9839963420210335218781399244-81399274, 81399284-81399287
1133ABCB470.9908854166666735384087031437-87031439, 87031442-87031456, 87031479, 87035640-87035643, 87074275, 87074278-87074279, 87104702-87104703, 87104715, 87104722-87104727
1134AKAP970.990191061071311151172491603081-91603083, 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
1135KRIT170.9873360470375428221191851234-91851240, 91852173, 91852187, 91852204-91852210, 91852213-91852215, 91867005-91867006, 91867038, 91867045, 91867048, 91867051-91867053, 91867058
1136PEX170.9919522326064431385292136367, 92140304, 92140309, 92157626-92157628, 92157637, 92157640, 92157648-92157653, 92157661-92157667, 92157672-92157680, 92157742
1137COL1A270.97098268714948119410194029599-94029600, 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
1138SGCE70.9741887905604735135694228146, 94248148, 94248154, 94252651, 94252657, 94259056-94259060, 94259070-94259072, 94285302-94285308, 94285383-94285397
1139SLC25A1370.9812900049236838203195751292-95751309, 95906574-95906578, 95951254-95951268
1140TFR270.913133832086452092406100218679-100218680, 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
1141SLC26A570.9910514541387202235103014876-103014882, 103017256, 103017270-103017281
1142RELN70.9872795605666413210377103124203-103124208, 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
1143SLC26A470.97994024754588472343107302202, 107323685-107323693, 107323939-107323975
1144SLC26A370.98867102396514262295107432338-107432360, 107432368, 107432373, 107432379
1145DLD70.9960784313725561530107556037-107556040, 107557802-107557803
1146IFRD170.93805309734513841356112090782-112090811, 112090824-112090831, 112090834, 112101921-112101922, 112101966-112101971, 112102157-112102191, 112102355, 112112915
1147CFTR70.946657663740722374443117120159, 117120165, 117171057, 117176642-117176649, 117188713-117188753, 117188759-117188800, 117188847-117188877, 117234987-117234988, 117235003-117235112
1148AASS70.99352750809061182781121716575, 121716578, 121717950, 121733005, 121755162-121755163, 121769452, 121769457, 121769522-121769527, 121769548, 121769568-121769569, 121769586
1149IMPDH170.861666666666672491800128035302-128035307, 128036669, 128038559-128038562, 128045828-128045919, 128049810-128049955
1150FLNC70.973220836390322198178128470711-128470718, 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
1151ATP6V0A470.941339674990091482523138394369-138394511, 138437410-138437414
1152BRAF70.954367666232071052301140434505-140434507, 140481460-140481463, 140507842-140507846, 140507854-140507855, 140507858, 140624377-140624383, 140624385-140624390, 140624401-140624402, 140624406-140624438, 140624462-140624503
1153PRSS170.9045698924731271744142459653-142459682, 142460332-142460372
1154CLCN170.98483316481294452967143013423-143013427, 143013430, 143013440, 143020431, 143020435, 143042698, 143042701-143042702, 143042780, 143043320-143043339, 143043343, 143047475-143047480, 143047489-143047492, 143048925
1155CNTNAP270.98698698698699523996145813981-145814006, 145814013, 145814026, 146818122, 147092828, 147092834-147092841, 147092852-147092854, 147844744, 147914475-147914478, 147914487-147914492
1156KCNH270.6586206896551711883480150642455-150642456, 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
1157PRKAG270.95847953216374711710151329155-151329224, 151573605
1158SHH70.588912886969045711389155595594-155596066, 155596102-155596107, 155596117-155596129, 155596147-155596151, 155596155-155596156, 155596176-155596199, 155596202-155596203, 155596206-155596212, 155596222-155596225, 155596237, 155596290, 155596297, 155596341-155596372
1159MNX170.26533996683258861206156798218-156798302, 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
1160CLN880.931475029036598611719504, 1719507-1719511, 1719519-1719526, 1728642-1728686
1161MCPH180.990031897926632525086264189-6264210, 6302118, 6302760, 6479086
1162GATA480.63355906696764487132911565822-11565825, 11565834-11565841, 11565844-11565857, 11565874-11565886, 11565903-11565905, 11565908, 11565912-11565918, 11565940-11565948, 11565954, 11565957, 11565970-11565971, 11565974, 11565992-11566410, 11607678-11607680, 11607693
1163TUSC380.89207258834766113104715397940-15397956, 15397970-15398044, 15398065-15398077, 15508245, 15519691-15519697
1164ASAH180.9806397306397323118817915073, 17924739, 17941491-17941499, 17941506, 17941521-17941531
1165LPL80.995098039215697142819810857-19810860, 19810870, 19810874, 19810879
1166SFTPC80.99158249158249559422020971, 22020975, 22021486, 22021495, 22021517
1167NEFL80.93872549019608100163224813131-24813132, 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
1168CHRNA280.9666666666666753159027320637-27320644, 27320858-27320867, 27320871, 27320874, 27320963-27320969, 27321026-27321032, 27321056-27321064, 27321067, 27321075-27321083
1169ESCO280.981173864894834180627660843-27660872, 27660899-27660902
1170FGFR180.997563946406826246338271153, 38271524-38271528
1171ADAM980.9873983739837431246038854613, 38854622-38854624, 38854662-38854663, 38854669-38854679, 38871502-38871509, 38876421, 38880822, 38959436-38959439
1172ANK180.96856340007025179569441530253-41530258, 41551547, 41554012, 41566434, 41566448, 41573250-41573261, 41575136, 41575656-41575661, 41575670-41575672, 41581116, 41581119-41581121, 41583408, 41583414-41583421, 41583428-41583429, 41583432-41583436, 41583441, 41753873-41753998
1173THAP180.957943925233642764242693209-42693213, 42693216-42693217, 42693224-42693242, 42693259
1174HGSNAT80.93763102725367119190842995640-42995757, 43025810
1175RP180.9945912532838835647155533633-55533635, 55533655-55533675, 55533895, 55533900-55533901, 55533906, 55533910-55533915, 55533940
1176CHD780.98298865910607153899461654597, 61713046, 61734366-61734409, 61734461-61734464, 61734477, 61734583-61734651, 61734691-61734704, 61748722, 61749416-61749421, 61749514, 61766035-61766040, 61766046, 61778298, 61778301-61778303
1177TTPA80.7861409796893717983763998402-63998580
1178CYP7B180.92965154503616107152165527685-65527704, 65528663, 65711052-65711136, 65711144
1179EYA180.987633501967422177972184073, 72211307, 72211333-72211337, 72211340, 72211359-72211371, 72246378
1180TMEM7080.892720306513418478374888535-74888566, 74888573-74888603, 74888637-74888643, 74888649-74888650, 74888653-74888654, 74888689-74888690, 74888694-74888697, 74888700-74888701, 74888703-74888704
1181CA280.955300127713923578386376311-86376344, 86389472
1182CNGB380.9950617283950612243087588344, 87680313-87680323
1183NBN80.9854304635761633226590960068-90960072, 90960106-90960115, 90960120, 90996753-90996764, 90996770, 90996780-90996783
1184DECR180.997023809523813100891029379, 91057154, 91057161
1185TMEM6780.95281124497992141298894768083-94768094, 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
1186GDF680.47149122807018723136897156791-97156808, 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
1187VPS13B80.9873269968317515211994100108564-100108588, 100123336-100123339, 100123343-100123347, 100123350-100123353, 100123388-100123392, 100123428-100123474, 100123495, 100160195, 100168905-100168907, 100286539-100286542, 100513920-100513922, 100513980-100514015, 100514075-100514086, 100515178, 100874132
1188RRM2B80.9990530303030311056103220361
1189DPYS80.843589743589742441560105393434-105393440, 105478885-105479109, 105479132-105479141, 105479147-105479148
1190TRPS180.99871299871353885116427196-116427199, 116599450
1191EXT180.9995537706381112241119122636
1192TNFRSF11B80.99170812603648101206119945252-119945259, 119964037-119964038
1193KIAA019680.98965517241379363480126044563-126044598
1194KCNQ380.93318060328371752619133492442, 133492499-133492500, 133492505-133492514, 133492534-133492543, 133492561-133492568, 133492571-133492573, 133492585, 133492603-133492605, 133492609-133492625, 133492644-133492678, 133492689-133492718, 133492725-133492779
1195TG80.99157337185506708307133882071, 133899645-133899648, 133920431-133920482, 133920503-133920504, 133920514, 133920518, 133920557, 134031852, 134042170, 134042174, 134042186, 134042191-134042194
1196NDRG180.98987341772152121185134251231, 134266793-134266794, 134274308-134274313, 134274328-134274330
1197SLURP180.97756410256417312143823772-143823778
1198CYP11B180.94179894179894881512143956386, 143956392-143956400, 143956407-143956410, 143956715, 143957128-143957132, 143957207-143957208, 143957222, 143957232-143957236, 143958505-143958533, 143958572-143958602
1199CYP11B280.94973544973545761512143993953-143993961, 143993964-143993968, 143994061-143994081, 143994223-143994225, 143994266, 143994270, 143994279, 143994701-143994705, 143994817, 143996528-143996556
1200PLEC80.65122732123799490214055144990378-144990382, 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
1201GPT80.696847753185784521491145730629, 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
1202RECQL480.899917287014063633627145737069, 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
1203DOCK890.984126984126981006300214977-215029, 382581, 382591-382592, 382596, 382600-382601, 407008, 428371-428373, 439381, 452011-452045, 452097
1204VLDLR90.968726163234178226222622190-2622271
1205KCNV290.8577533577533623316382717971, 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
1206GLIS390.9459362692445415127933856039-3856049, 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
1207JAK290.988231832892034033995066742-5066764, 5069105, 5077479-5077485, 5077530-5077531, 5077540, 5077570, 5080538-5080541, 5080549
1208GLDC90.945478289258916730636595019, 6645251, 6645335-6645499
1209CDKN2A90.855626326963916847121970984, 21971140, 21971143, 21971155-21971161, 21971170-21971174, 21971182, 21971185, 21974704-21974741, 21974765, 21974769-21974774, 21974785-21974790
1210CDKN2A90.7241379310344814452221971140, 21971143, 21971155-21971161, 21971170-21971174, 21971182, 21971185, 21994216-21994225, 21994239, 21994243-21994250, 21994271-21994312, 21994341-21994371, 21994384-21994419
1211TOPORS90.9939451880178519313832550780-32550790, 32550812-32550818, 32550938
1212APTX90.995140913508265102932973540, 32973551-32973554
1213B4GALT190.8922305764411129119733166789, 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
1214DNAI190.999047619047622210034506702-34506703
1215GALT90.999122807017541114034646755
1216VCP90.9929781082197417242135072334-35072350
1217FANCG90.996254681647947186935078321-35078326, 35079517
1218TPM290.99766081871345285535685304-35685305
1219NPR290.9891857506361334314435792406-35792422, 35792451, 35792570-35792576, 35792626-35792627, 35792630-35792631, 35792638, 35792665, 35792692, 35792752, 35792761
1220GRHPR90.989868287740631098737422817-37422826
1221FXN90.7756714060031614263371650707-71650724, 71650740-71650863
1222TMC190.9925536574682417228375369770-75369776, 75450868-75450877
1223TRPM690.998846597462517606977343163-77343169
1224VPS13A90.97469816272966241952579820229-79820247, 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
1225AUH90.9551102094060284, 94087647, 94087684, 94123999-94124007, 94124032-94124034, 94124045-94124046, 94124087-94124089, 94124102-94124105, 94124134-94124140, 94124147-94124150, 94124153-94124157, 94124161-94124171
1226ROR290.93608757062147181283294486315-94486316, 94486695, 94486789, 94495427-94495428, 94495477, 94495491-94495533, 94495554-94495583, 94495694-94495700, 94495713-94495718, 94712149-94712155, 94712165-94712245
1227SPTLC190.9894514767932515142294809495-94809497, 94874779-94874790
1228FBP190.994100294985256101797365720, 97401461-97401464, 97401467
1229FANCC90.9797257006559334167797869478-97869479, 97873790-97873820, 97887420
1230PTCH190.91942909760589350434498209655-98209659, 98211419, 98211428-98211434, 98215802, 98239906-98239913, 98239934-98239935, 98239939-98239943, 98268689-98268768, 98268775-98268824, 98268842-98268881, 98270470-98270479, 98270503-98270643
1231HSD17B390.9924973204716793399003158-99003164
1232XPA90.9355231143552353822100459414, 100459435, 100459445-100459451, 100459497-100459540
1233FOXE190.114973262032099931122100616197-100617138, 100617146-100617158, 100617173-100617203, 100617216-100617218, 100617274, 100617280, 100617284-100617285
1234TGFBR190.93584656084656971512101867488-101867584
1235ALG290.97761790567546281251101983915-101983923, 101983927-101983931, 101983942-101983944, 101983950-101983957, 101984090, 101984093-101984094
1236INVS90.98717948717949413198102988424, 103015274-103015284, 103015357-103015364, 103015367, 103015381, 103046718-103046721, 103046724-103046737, 103046741
1237BAAT90.97852028639618271257104130506-104130507, 104130513, 104130516-104130518, 104130535-104130555
1238ABCA190.9995579133510236786107588163-107588164, 107588168
1239FKTN90.95815295815296581386108363439, 108370131-108370152, 108370164-108370171, 108370194-108370214, 108377581, 108380365-108380366, 108382272-108382273, 108382277
1240MUSK90.999233716475122610113547821, 113547996
1241DFNB3190.880690161527173252724117168994, 117186767, 117186778-117186780, 117186786, 117240858, 117266600, 117266616, 117266646, 117266650, 117266688-117266720, 117266748, 117266767-117266785, 117266797-117266880, 117266885-117266890, 117266911-117267081
1242CDK5RAP290.99348820837733375682123171405-123171433, 123342206-123342212, 123342215
1243GSN90.950191570881231172349124062145-124062252, 124062275-124062283
1244NR5A190.770562770562773181386127245162-127245173, 127253425, 127253431, 127253476-127253489, 127253499, 127255396, 127262462, 127262544, 127262688-127262724, 127262739-127262751, 127262757-127262779, 127262915-127262918, 127265358, 127265377, 127265386-127265396, 127265406-127265499, 127265573-127265674
1245LMX1B90.655942806076853851119129376798-129376799, 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
1246STXBP190.97737306843267411812130374683-130374719, 130416022, 130425613-130425615
1247ENG90.98836621143146231977130577961, 130578050, 130580550, 130587579, 130587584-130587588, 130587598-130587599, 130587603-130587604, 130616608-130616613, 130616624-130616627
1248GLE190.99093943729137192097131267159-131267163, 131296105-131296118
1249DOLK90.96536796536797561617131709020-131709032, 131709383-131709402, 131709554, 131709557-131709578
1250TOR1A90.9159159159159284999132586191-132586206, 132586284, 132586294-132586360
1251SETX90.986930545182971058034135139631, 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
1252TTF190.9970566593083182718135273617, 135276857-135276863
1253TSC190.99456366237482193495135771942-135771946, 135772047, 135772050, 135772054, 135772907-135772908, 135772913-135772920, 135772924
1254CEL90.759577278731845462271135937412, 135937434-135937455, 135941983, 135944521-135944527, 135944583-135944589, 135946012-135946018, 135946470, 135946483, 135946486, 135946556-135946582, 135946596-135946636, 135946644-135947073
1255SURF190.88925802879291100903136221731, 136221734, 136221776-136221778, 136221781, 136223124-136223139, 136223152-136223175, 136223276-136223329
1256ADAMTS1390.935807656395892754284136293754-136293891, 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
1257DBH90.98435814455232291854136505003-136505006, 136522235-136522253, 136522279-136522280, 136523516, 136523522, 136523528, 136523532
1258SARDH90.960464272760251092757136535734-136535739, 136536803-136536804, 136550322-136550360, 136555502, 136561367, 136568073-136568075, 136570079-136570085, 136573412, 136573444, 136597699-136597723, 136599009-136599012, 136599111, 136599114, 136599190-136599203, 136599243, 136599246, 136599267
1259COL5A190.967736088453871785517137534034-137534142, 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
1260LHX390.656741108354014151209139089171-139089183, 139089227-139089230, 139089298, 139089301-139089333, 139089392-139089407, 139089432-139089475, 139089539-139089540, 139090498-139090525, 139090551-139090575, 139090754-139090905, 139091669-139091670, 139091722, 139094792-139094885
1261INPP5E90.672868217054266331935139324773-139324774, 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
1262NOTCH190.864110589462710427668139390592-139390594, 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
1263AGPAT290.74313022700119215837139571459-139571461, 139571522-139571559, 139571880-139571883, 139571918, 139571941-139571942, 139571947-139571949, 139572000-139572001, 139581648-139581809
1264SLC34A390.686666666666675641800140127056, 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
1265EHMT190.961252245316911513897140513481-140513501, 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
1266SHOXX0.75995449374289211879595432-595461, 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
1267ARSEX0.99661016949153617702852922, 2852942, 2852949-2852951, 2852967
1268NLGN4XX0.986944104447163224515821266-5821270, 5821355-5821371, 5821690-5821696, 5821700, 5947387-5947388
1269KAL1X0.9045521292217319520438538590, 8699871-8699881, 8699895-8700077
1270GPR143X0.8611764705882417712759709399-9709402, 9709405, 9714157-9714160, 9728782, 9728791, 9728813, 9733608-9733653, 9733662-9733664, 9733667-9733692, 9733699, 9733701-9733702, 9733712-9733762, 9733774-9733807, 9733873-9733874
1271MID1X0.9905189620758519200410427713-10427721, 10437764-10437770, 10450625, 10450631, 10450639
1272HCCSX0.99876084262701180711130210
1273OFD1X0.99967094438961303913754692
1274FANCBX0.998837209302333258014861692, 14877373, 14883228
1275CDKL5X0.9954736501778214309318616637-18616644, 18646691, 18646701-18646705
1276RS1X0.98962962962963767518660147-18660153
1277PDHA1X0.999147485080991117319362210
1278RPS6KA3X0.9680611785874971222320179828, 20183079-20183082, 20185781, 20195176, 20195180-20195183, 20204451, 20212385-20212386, 20222158, 20284682-20284714, 20284728-20284750
1279SMSX0.9536784741144451110121958943-21958991, 21985333, 21995244
1280PHEXX0.998666666666673225022231056, 22244607, 22244610
1281ARXX0.44582593250444936168925022903-25022911, 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
1282IL1RAPL1X0.999043519846962209129973624-29973625
1283NR0B1X0.81740976645435258141330326422-30326427, 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
1284GKX0.9891696750902518166230718955-30718970, 30718978, 30718981
1285DMDX0.99394103816242671105831164464-31164466, 31165434-31165436, 31165476, 31165629, 31514907-31514915, 31514918-31514922, 31747845-31747853, 31838136-31838144, 31838154-31838162, 32235075, 32305689, 32383279, 32383310, 32398639-32398650, 32404441, 32509635
1286CYBBX0.997664915353184171337660537, 37665688, 37665694-37665695
1287RPGRX0.86412257877999470345938145289-38145712, 38145748-38145757, 38145760-38145765, 38145781, 38150223-38150224, 38163929, 38163965-38163978, 38163983-38163990, 38182703-38182705, 38186608
1288OTCX0.993427230046957106538226624, 38226663-38226666, 38226671-38226672
1289TSPAN7X0.981575038546855-38546868, 38546876
1290BCORX0.9848139711465580526839921557-39921599, 39923039-39923048, 39923592-39923593, 39923596-39923597, 39923620, 39923633, 39923636-39923638, 39923641, 39923645, 39923650, 39930313, 39933185-39933188, 39933355-39933364
1291ATP6AP2X0.9857549857549915105340440318, 40440343-40440354, 40448239-40448240
1292NYXX0.36998616874136911144641332770-41333577, 41333600-41333606, 41333632-41333669, 41333692-41333694, 41333720-41333722, 41333725, 41333779-41333785, 41333922-41333956, 41333986-41333994
1293CASKX0.999638467100511276641782238
1294MAOAX0.998106060606063158443592013-43592015
1295RP2X0.999050332383671105346739173
1296UBA1X0.9933899905571321317747062077-47062080, 47062104-47062111, 47065689, 47069390, 47069398, 47069401-47069405, 47069410
1297ZNF41X0.99914529914532234047315414-47315415
1298SYN1X0.59962228517469848211847433426-47433427, 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
1299CFPX0.9843971631205722141047485768, 47485775, 47485791, 47485798-47485804, 47486564-47486565, 47486714, 47487507-47487509, 47488926, 47488973, 47488983-47488986
1300FTSJ1X0.959595959595964099048341098, 48341124-48341145, 48341161-48341177
1301PORCNX0.9898989898989914138648368272, 48368283, 48370764-48370775
1302EBPX0.997113997114269348382174, 48382319
1303WASX0.88999337309476166150948542291-48542294, 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
1304GATA1X0.994363929146547124248649655, 48649689-48649692, 48651647, 48651650
1305PQBP1X0.99874686716792179848760296
1306SYPX0.961783439490453694249047964, 49048090-49048091, 49048117-49048124, 49056621-49056645
1307CACNA1FX0.97185709470846167593449061702, 49061765-49061768, 49074946-49074947, 49074957-49074959, 49074965-49074966, 49075165, 49075169-49075194, 49082491-49082505, 49082509-49082510, 49086765-49086773, 49087053-49087071, 49087325-49087334, 49087346-49087418
1308FOXP3X0.9760802469135831129649107802, 49107808-49107812, 49107815, 49107820-49107826, 49108219, 49110459, 49110491-49110492, 49112181, 49114865-49114876
1309CLCN5X0.999184006527952245149807010, 49850656
1310KDM5CX0.9835575485799777468353222163-53222166, 53222170, 53222175-53222184, 53222187, 53223390, 53223424, 53223595, 53224145, 53224207, 53225134-53225140, 53225896-53225905, 53225921-53225923, 53225993-53226026, 53231048, 53250085
1311SMC1AX0.998649378714215370253436046-53436050
1312HSD17B10X0.99491094147583478653461277-53461280
1313FGD1X0.95703395703396124288654494248, 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
1314ARHGEF9X0.998710509348812155162857964-62857965
1315ARX0.86283025696706379276366765120-66765219, 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
1316EFNB1X0.991354466858799104168049652-68049658, 68049693, 68049704
1317EDAX0.86904761904762154117668836153-68836175, 68836185-68836195, 68836201-68836202, 68836206, 68836233-68836254, 68836268-68836316, 68836356-68836384, 68836510-68836518, 68836522, 68836529-68836534, 69253326
1318IGBP1X0.999019607843141102069353806
1319DLG3X0.89975550122249246245469665052-69665058, 69665064-69665149, 69665166-69665198, 69665208-69665248, 69665262-69665263, 69665272-69665275, 69665280-69665289, 69665301-69665306, 69665318, 69665329-69665377, 69669652, 69669655, 69669662-69669666
1320MED12X0.94903581267218333653470338605-70338703, 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
1321NLGN3X0.999597909127461248770389641
1322GJB1X0.988262910798121085270444063, 70444222, 70444351-70444354, 70444358-70444360, 70444381
1323TAF1X0.96356916578669207568270586165-70586344, 70603900-70603902, 70607227-70607243, 70607251-70607255, 70613967-70613968
1324PHKA1X0.9961873638344214367271843094, 71876060-71876063, 71933690, 71933694-71933701
1325SLC16A2X0.71009771986971534184273641254-73641618, 73641651-73641676, 73641683-73641685, 73641688-73641690, 73641700-73641758, 73641766, 73641772-73641777, 73641780-73641790, 73641794-73641824, 73641835-73641839, 73641846, 73641849-73641866, 73641898-73641902
1326KIAA2022X0.9964842891672216455173961455, 73964259-73964260, 73964263-73964264, 73964270-73964271, 73964278-73964286
1327ABCB7X0.9885057471264426226274293538-74293541, 74296359, 74296373, 74375951-74375970
1328ATRXX0.9889022596603883747976763937-76763941, 76813037, 76814196, 76845365, 76872146-76872148, 76875930-76875967, 76907781-76907786, 76912122, 76912128, 76919005-76919014, 76937583, 76937586-76937588, 76937751-76937754, 76953091-76953093, 76972649, 76972654, 77041485-77041487
1329ATP7AX0.9897845880524146450377227220, 77227228, 77227231, 77227241-77227248, 77227255, 77258583, 77276490-77276509, 77276552, 77298896-77298907
1330PGK1X0.998405103668262125477369571, 77369597
1331TBX22X0.9897632757517616156379277769-79277784
1332BRWD3X0.97615085967831129540979943575, 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
1333POU3F4X0.9613259668508342108682763562, 82763565-82763567, 82763570, 82763573, 82763581-82763595, 82763605-82763608, 82763669-82763672, 82763679-82763686, 82763710-82763714
1334ZNF711X0.9938757655293114228684510567, 84519326, 84519337, 84519378, 84519381, 84519388-84519390, 84519395-84519399, 84520201
1335CHMX0.9765545361875646196285128147, 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
1336PCDH19X0.9519056261343159330699662997, 99663034-99663059, 99663350-99663376, 99663381-99663386, 99663397-99663407, 99663413-99663452, 99663464-99663467, 99663493, 99663496, 99663501-99663502, 99663556-99663595
1337SRPX2X0.994992846924187139899917291-99917292, 99917295-99917299
1338BTKX0.997979797979841980100611218-100611220, 100615700
1339GLAX0.9992248062015511290100655669
1340PLP1X0.998800959232611834103042770
1341PRPS1X0.998955067920591957106882624
1342COL4A5X0.99130090945038445058107812008, 107816836, 107816839-107816840, 107816861-107816863, 107834421, 107834424, 107834427-107834429, 107865991-107865995, 107866004, 107869460-107869461, 107911645-107911657, 107911681, 107911700-107911702, 107939548-107939554
1343ACSL4X0.9962546816479482136108902689, 108911481-108911487
1344PAK3X0.99311531841652121743110416259-110416262, 110416265, 110416274-110416279, 110416291
1345UPF3BX0.9972451790633641452118979248-118979251
1346LAMP2X0.97411003236246321236119562470, 119590506, 119590509-119590517, 119590533, 119590560-119590578, 119603017
1347CUL4BX0.981765134938502742119672541-119672542, 119679334, 119694071-119694077, 119694083, 119694324, 119694333, 119694338, 119694341-119694346, 119694354-119694359, 119694369, 119694439-119694461
1348XIAPX0.994645247657381494123019516, 123025121-123025127
1349OCRLX0.98152254249815502706128674421-128674441, 128674446-128674451, 128674728-128674730, 128722176, 128722179-128722188, 128722191-128722199
1350ZDHHC9X0.9981735159817421095128945454-128945455
1351GPC3X0.96959265633964531743133119351-133119365, 133119380-133119387, 133119394-133119402, 133119406, 133119457-133119476
1352HPRT1X0.9589041095890427657133594342-133594368
1353SLC9A6X0.876543209876542602106135067662-135067679, 135067695-135067700, 135067706-135067723, 135067734, 135067738, 135067744-135067748, 135067789-135067816, 135067824-135067986, 135081091-135081098, 135122245-135122254, 135122257, 135122333
1354FHL1X0.990740740740749972135288665-135288673
1355ZIC3X0.811965811965812641404136648873, 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
1356F9X0.999278499278511386138630650
1357SOX3X0.283370618941099611341139585885-139586528, 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
1358FMR1X0.9973670352817351899146993727, 147014278-147014280, 147027117
1359AFF2X0.9997459349593513936148044375
1360MTM1X0.9994481236203111812149826327
1361FAM58AX0.8870748299319783735152864437-152864480, 152864483-152864521
1362SLC6A8X0.748427672955974801908152954030-152954291, 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
1363ABCD1X0.817247542448614092238152990760-152990761, 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
1364L1CAMX0.97482776894542953774153129450-153129453, 153130586-153130628, 153130757-153130769, 153133310-153133328, 153133343-153133345, 153135603, 153136515-153136517, 153136558-153136560, 153137607, 153141228, 153141272-153141275
1365AVPR2X0.94534050179211611116153171146, 153171501, 153171504, 153171511-153171530, 153171689-153171692, 153171699-153171707, 153171751-153171758, 153172053-153172054, 153172062, 153172080-153172084, 153172087, 153172094, 153172097-153172103
1366MECP2X0.913159652638611301497153295947-153295951, 153295959-153295968, 153296087-153296106, 153296187-153296216, 153296709-153296711, 153363061-153363122
1367OPN1LWX0.799086757990872201095153409758-153409773, 153409784-153409826, 153409869, 153416163, 153416247, 153416268-153416269, 153416415, 153418453-153418471, 153418510-153418557, 153420057-153420127, 153420193-153420208, 153424354
1368OPN1MWX0.688584474885843411095153448167-153448218, 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
1369OPN1MWX0.685844748858453441095153485285-153485336, 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
1370FLNAX0.953172205438073727944153577401-153577404, 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
1371EMDX0.77908496732026169765153607845-153607893, 153607907-153607926, 153608050-153608055, 153608061-153608154
1372TAZX0.9252217997465159789153640181, 153640188-153640219, 153640229-153640251, 153640277-153640279
1373GDI1X0.95982142857143541344153665601-153665645, 153668399-153668406, 153671016
1374G6PDX0.890109890109891801638153760215-153760304, 153760408, 153760455, 153760601-153760634, 153760654, 153775007-153775012, 153775034-153775049, 153775055-153775085
1375IKBKGX0.904371584699451401464153780279-153780283, 153784421, 153786767, 153788622-153788639, 153788671, 153788684-153788721, 153788733-153788763, 153791062-153791068, 153792556-153792593
1376IKBKGX0.9100204498977544489153868334-153868370, 153869859-153869865
1377DKC1X0.9993527508090611545153991249
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
4PCSK9-R237Whet unknown0.008Dominant
pathogenic
Low clinical importance,
uncertain
Reported to cause hypocholesterolemia, but observations had no statistical significance and contradicting evidence exists.
4PCSK9-V474Ihomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
4SCN5A-G615Ehet unknown0.008Dominant
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.
2.5COL4A1-Q1334Hhet unknown0.292Dominant
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%.
2.5COL4A1-T555Phomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5C3-R102Ghet unknown0.053Complex/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%.
2.5TP53-P72Rhomozygous0.550Unknown
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.
2.5MTR-P749Shet unknown0.008Unknown
pathogenic
High clinical importance,
uncertain
Unreported, predicted to be damaging. Other recessive missense mutations in this gene cause methylcobalamin deficiency.
2.5SP110-M523Thomozygous0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SP110-L425Shomozygous0.875Unknown
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.
2.5SP110-G299Rhet unknown0.822Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SP110-E207Khet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SP110-A128Vhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SP110-W112Rhomozygous0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2NEFL-S472ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
2TOR1A-D216Hhomozygous0.089Unknown
protective
Low clinical importance,
likely
This SNP has been shown to be benign and play a protective role against Dystonia.
2ALAD-K59Nhet unknown0.060Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
2CYP2A6-F392Yhomozygous0.969Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2CYP2A6-L160Hhet unknown0.017Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign)
1.5CYP2C9-R144Chet unknown0.027Unknown
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.
1.5TPMT-Y240Chet unknown0.037Complex/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.
1.25RNASEL-D541Ehet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1.25RNASEL-R462Qhet unknown0.208Complex/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.
1.125WFS1-V333Ihomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.125WFS1-R611Hhomozygous0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.125WFS1-V871Mhet unknown0.023Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NPY-L7Phet unknown0.019Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign)
1SLCO1A2-E172Dhet unknown0.029Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1VSIG10L-N3Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1DSC3-N239Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-V168IhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-G528Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-E603Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1GNB3-G272Shomozygous0.027Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.184 (benign)
1KCP-K395Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TLR3-L412Fhomozygous0.200Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TTN-Q31346Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V31313Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I23649ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A19840PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S19140Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R9852Hhomozygous0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-G9378Rhomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S3419Nhomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V3261Mhomozygous0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-K1201Ehomozygous0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-E190Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SEBOX-L207Shet unknown0.913Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1POR-A503Vhomozygous0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1AKAP10-I646Vhet unknown0.434Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1AKAP10-R249Hhet unknown0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ADH1B-H48Rhomozygous0.678Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1DSG2-I293Vhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ALG1L2-L157ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PIK3R6-L609ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HNMT-T105Ihet unknown0.112Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.821 (possibly damaging)
1GCKR-Q234Phet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.654 (possibly damaging)
1GCKR-L446Phomozygous0.673Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1GCKR-R540*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1F5-Q534Rhomozygous0.991Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MS4A14-I56ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-N177Yhomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1MS4A14-G584Rhomozygous0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1ALG12-I393Vhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C5orf20-R117*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1C5orf20-N97DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C5orf20-T75PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1LDLRAP1-S202Phomozygous0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
1LDLRAP1-R238Whet unknown0.016Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
1SEPN1-C108Yhomozygous0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SEPN1-N467KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1AURKA-I57Vhomozygous0.814Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1AURKA-F31Ihet unknown0.366Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1DGKK-L1014ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1POMGNT1-M623Vhomozygous0.878Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1POMGNT1-D556Nhet unknown0.016Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.882 (probably damaging), Testable gene in GeneTests
1ABCC2-Y39Fhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC2-V417Ihet unknown0.195Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1ABCC2-V1188Ehet unknown0.086Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC2-C1515Yhet unknown0.095Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CUL7-Q813RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CILP-G1166Shomozygous0.766Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-K575Ehomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-I395Thet unknown0.491Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1NR_027127-W61*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1KRTAP7-1-I61ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-S51PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TNXB-R48PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1AIM1-Q293Phet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1AIM1-E1196Ahomozygous0.935Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.015 (benign)
1ANKK1-A239Thet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.852 (probably damaging)
1ANKK1-G442Rhet unknown0.541Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ANKK1-E713Khet unknown0.347Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1PADI6-D330Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RNF207-N573Shomozygous0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1RNF207-G603Ahomozygous0.165Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign)
0.75MTHFR-E429Ahet unknown0.243Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.75MTHFR-A222Vhet unknown0.250Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
0.75PRNP-M129Vhet unknown0.258Complex/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.
0.75NPC1-I858Vhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
0.75NPC1-M642Ihet unknown0.863Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75NPC1-H215Rhet unknown0.222Complex/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).
0.625SYNE1-G8323Ahet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.625SYNE1-F7302Vhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625SYNE1-L5015Mhomozygous0.866Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625SYNE1-S4596Thomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625SYNE1-L4128Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625SYNE1-V1035Ahet unknown0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.625MTRR-I49Mhet unknown0.313Recessive
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.
0.625MTRR-H622Yhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625BRCA2-N372Hhet unknown0.230Recessive
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.
0.625BRCA2-V2466Ahomozygous0.954Dominant
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AKAP9-S2186Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP3A7-R409Thomozygous0.669Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RELN-S630Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.65 (possibly damaging), Testable gene in GeneTests
0.5RELN-E530Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5GATAD1-R233Whet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5HLA-DQA1-C34Yhet unknown0.547Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-F41Shet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A68Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-R70Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-S75Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G84Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-R87Thet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M89Ihet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q152Hhet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A222Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M230Vhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOTCH4-C815Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5NOTCH4-T320Ahet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NOTCH4-D272Ghet unknown0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NOTCH4-K117Qhet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNXB-P2731Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCB1-S893Ahomozygous0.625Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5COL1A2-P549Ahomozygous0.907Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PON1-Q192Rhomozygous0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5AARS2-V730Mhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5AARS2-I339Vhomozygous0.863Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TULP1-K261Nhet unknown0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-I259Thet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-T67Rhomozygous0.877Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BCLAF1-S209Chet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5BCLAF1-G66Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5REV3L-T1224Ihomozygous0.532Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5REV3L-F405Yhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5DNAH11-E34Lhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-I214Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahomozygous0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.747Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shomozygous0.367Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thomozygous0.501Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihomozygous0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PMS2-K541Ehomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX3-Q82Rhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SYNJ2-D941Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5SYNJ2-E1468Ghet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A2-S270Ahomozygous0.876Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK125766-L144Mhet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK125766-R117Hhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK125766-V114Ihet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK125766-R20*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5TXNDC3-C208Rhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5PGAM2-I114Shet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.876 (probably damaging), Testable gene in GeneTests
0.5KCNK5-R263Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PHKG1-A47Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SPDYE1-R244Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5SPDYE1-C278Rhet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5PKHD1-Q4048Rhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhet unknown0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R3842Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhomozygous0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chomozygous0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_024390-W43*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5EYS-R2326Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-L1748Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-L1419Shet unknown0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-L852Phet unknown0.655Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-G631Shomozygous0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-Q571Rhomozygous0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLI3-T183Ahomozygous0.663Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC30A8-R325Whet unknown0.225Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CFTR-V470Mhomozygous0.621Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO3A-R319Hhet unknown0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-A833Shet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5MYO3A-S956Nhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-A1032Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.108 (benign), Testable gene in GeneTests
0.5MYO3A-T1284Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5MYO3A-R1313Shet unknown0.620Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PPYR1-A99Shet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.03 (benign)
0.5PPYR1-R240Chet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.332 (possibly damaging)
0.5PPYR1-V276Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5CHAT-V461Mhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhomozygous0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUBN-L2879Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S2717Whomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S1935Ghet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shomozygous0.565Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thet unknown0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shet unknown0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IDI2-W144*het unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5POMT1-D411Ehet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SETX-I1386Vhomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS13-R7Whet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADAMTS13-A1033Thet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.712 (possibly damaging), Testable gene in GeneTests
0.5AK094914-K152Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094914-T33Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AK094914-C16Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AK094914-A13Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL5A1-P1379Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZMYND17-G343Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5USP54-G1514Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5HABP2-T50Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PDZD8-N929Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5BAG3-C151Rhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARMS2-A69Shet unknown0.294Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL17A1-D1370Ghet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhomozygous0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.771Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhomozygous0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZFYVE27-V82Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE27-G138Vhomozygous0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYST4-P490Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5ANXA11-R230Chet unknown0.382Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CYP2C8-K399Rhet unknown0.061Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5CYP2C8-R139Khet unknown0.078Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.015 (benign)
0.5AVPI1-A41Ghet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AVPI1-L36Rhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5ARHGAP19-Q305Rhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5SH2D3C-L729Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.86 (probably damaging)
0.5SH2D3C-L23Fhet unknown0.515Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.693 (possibly damaging)
0.5CDK5RAP2-V1540Lhomozygous0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCMTD1-R253Chet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.036 (benign)
0.5PCMTD1-R252*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PEX2-C184Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KLHL38-C504Yhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KLHL38-R346Khomozygous0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KLHL38-I334Vhomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KLHL38-H98Rhomozygous0.786Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5FER1L6-D1110Ehomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FER1L6-R1720Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5RNF5P1-I29Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CHRNA2-T125Ahomozygous0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLNC-R1860Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests with associated GeneReview
0.5CLCN1-G118Whomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R171Shomozygous0.865Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HR-Q528Rhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.293 (possibly damaging)
0.5HR-L526Phet unknown0.219Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HR-C397Yhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5HR-G337Dhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCM1-N159Shet unknown0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCM1-M597Vhet unknown0.733Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PCM1-R1251Hhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5TG-P118Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5TG-S734Ahet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhet unknown0.696Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1838Nhomozygous0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5TG-R1999Whet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-W2501Rhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5TG-R2530Qhomozygous0.586Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PLEC-A3171Vhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-H1459Rhet unknown0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-A641Vhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA1-L1648Vhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-K1587Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-R219Khet unknown0.498Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SVEP1-A2750Vhet unknown0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SVEP1-D2702Ghet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5SVEP1-L1648Vhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SVEP1-M1444Lhet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SVEP1-K1416Qhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SVEP1-L1330Mhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5SVEP1-I1157Vhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.907 (probably damaging)
0.5SVEP1-K899Rhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SVEP1-Q581Hhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5DFNB31-V783Ahet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thet unknown0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASTN2-G791Dhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.929 (probably damaging)
0.5ALG2-V367Ahet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALG2-S11Phet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAI1-A8Shet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5BOP1-D78Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5BOP1-D78Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RECQL4-S92Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DOCK8-A22Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5DOCK8-P97Thet unknown0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5DOCK8-A597Vhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests
0.5IFNK-W13Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5IFNK-K133Ehomozygous0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RLN2-R134Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5ALDH7A1-K439Qhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSPA1L-E602Khet unknown0.225Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.868Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5CYP1B1-N453Shet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-V432Lhet unknown0.547Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GKN2-D65Yhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ATP6V1B1-T30Ihet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP6V1B1-A272Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.857Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khomozygous0.527Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-D1529Ehet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-K1491Rhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C2orf71-T580Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-K421Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NID1-T733Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.926 (probably damaging)
0.5NID1-V246Ihet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EDARADD-M9Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OR2C3-Y219Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OR2C3-P68Shomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR2C3-T20Ahomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HADHB-T2TThet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TAF1B-P272Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5TAF1B-V282Ihomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TAF1B-T351Ahomozygous0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.588 (possibly damaging)
0.5TAF1B-E462Dhomozygous0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC4A5-H253Yhet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests
0.5VWA3B-E372*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5VWA3B-L677Vhet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWA3B-R1245Khomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL3A1-A698Thet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PGAP1-T84Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ALS2-V368Mhomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NBEAL1-T2492Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5SCN1A-A1056Thomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALNT5-R784*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5RANBP2-P780Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests
0.5NPHP1-P39Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.052 (benign), Testable gene in GeneTests with associated GeneReview
0.5GLI2-D1306Nhomozygous0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-I6534Vhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phet unknown0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thet unknown0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-W3348Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.668Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MMADHC-V193Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5EPHX1-Y113Hhet unknown0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5USH2A-I2169Thet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thet unknown0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRP8-R952Qhet unknown0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5L1TD1-V246Ahomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5L1TD1-V309Mhet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5L1TD1-K329Nhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5L1TD1-L602Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NEXN-R141Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.977 (probably damaging)
0.5ABCA4-H423Rhet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA4-R212Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5UROD-Q9Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.662 (possibly damaging), Testable gene in GeneTests
0.5KIAA0467-R834Hhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5CLCNKB-R27Lhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-C626Yhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-H3256Yhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-R2977Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-N765Shomozygous0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-M638Vhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EPHA8-G45Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5LEPRE1-M549Ihet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.424 (possibly damaging), Testable gene in GeneTests
0.5SPOCD1-P1089Shet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5DPYD-I543Vhet unknown0.199Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DPYD-R29Chomozygous0.731Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DBT-S384Ghomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFH-V62Ihet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFH-H402Yhomozygous0.818Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFH-E936Dhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CFHR1-E175Qhomozygous0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHIT1-V357V*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
0.5MR1-R31Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MR1-H39Rhet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.922 (probably damaging)
0.5MYOC-R76Khet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5COL11A1-S1547Phomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA1324-H55Yhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KIAA1324-I86Vhomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FLG-S1865Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-S805Fhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SFT2D2-Q132Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5FCRL4-P12Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ABCA12-S777Thomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-L1093Fhomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-N1985Dhet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-P1987Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-L2004Fhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.841 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-Y2232Chet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2345Shet unknown0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-S2764Lhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-G3248Dhet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khomozygous0.834Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3867Khet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CTSD-A58Vhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5FBN2-V965Ihomozygous0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC22A4-I306Thet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SLC22A4-L503Fhet unknown0.142Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5AP3B1-V585Ehomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5NM_001080479-R585Khet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.5NM_001080479-R621Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5NM_001080479-H780Nhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_001080479-H1640Qhet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.033 (benign)
0.5FAT1-K4059Nhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-Q2933Phet unknown0.695Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-V1577Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.5FAT1-H1273Rhet unknown0.697Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-R1064Ghet unknown0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-V862Lhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-A647Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5FAT1-F614Lhet unknown0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-V482Ihet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-S404Rhet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-V129Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DNAH5-L2862Fhet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-E1756Khet unknown0.008Unknown
benign
Low clinical importance,
uncertain
Probably benign.
0.5DNAH5-E758Ghet unknown0.008Unknown
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).
0.5DNAH5-T558Ahomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G24Ehet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhet unknown0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL7R-I66Thet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-V138Ihet unknown0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-T244Ihet unknown0.150Unknown
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).
0.5CCDC125-R97*het unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CCDC125-V13Mhomozygous0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.134 (benign)
0.5MOCS2-T50Ahet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.725 (possibly damaging), Testable gene in GeneTests
0.5IL13-Q144Rhet unknown0.766Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5AX746964-G175Shifthet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AX746964-K166Ihet unknown0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FLT4-R1321Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALDH5A1-H180Yhomozygous0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZFP57-R187Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRIM15-S324Nhomozygous0.155Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5BC040901-C89Whet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-P93Shet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-A106Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GRM6-A807Vhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.418 (possibly damaging), Testable gene in GeneTests
0.5ADRB2-G16Rhet unknown0.477Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ADRB2-E27Qhet unknown0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SLC26A2-I574Thomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MSX2-M129Thomozygous0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-A142Thet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HK3-G246Dhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5VEGFC-M419Delhomozygous0.984Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VEGFC-R61Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KIAA1109-H826Yhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KIAA1109-R2222Whet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5ANO10-R462Qhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ANO10-R263Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SLC6A20-T199Mhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5IQCF2-R4Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.966 (probably damaging)
0.5ITIH1-H881Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5HACL1-I151Fhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.967 (probably damaging)
0.5IRAK2-S47Yhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5IRAK2-D431Ehet unknown0.832Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL4A4-S1400Phomozygous0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-V1327Mhomozygous0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P1004Lhet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-G654Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P482Shomozygous0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-G43Rhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-L141Phomozygous0.760Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.764Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DIS3L2-P88Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5TTLL3-M502Rhet unknown0.468Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTLL3-L615Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.945 (probably damaging)
0.5TTLL3-A689Thet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.017 (benign)
0.5TRPM8-R247Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.926 (probably damaging)
0.5TRPM8-Y251Chet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TRPM8-S419Nhet unknown0.379Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GBE1-I334Vhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-R190Ghet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5TOMM70A-M225Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5EVC-Y258Hhomozygous0.721Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khet unknown0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5N4BP2-E118Khet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.565 (possibly damaging)
0.5N4BP2-D611Nhomozygous0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5N4BP2-S1353Rhet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.27 (possibly damaging)
0.5N4BP2-G1737Rhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ABCG2-Q141Khet unknown0.131Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.548 (possibly damaging)
0.5ANK2-S3300Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CFI-T300Ahomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DOK7-H113Phomozygous0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DOK7-T137Ihomozygous0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPN2-Q509Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CPN2-Q509Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RETNLB-P20Lhet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.987 (probably damaging)
0.5RETNLB-L14Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SIDT1-Y602Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5UMPS-G213Ahet unknown0.170Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HTR3E-E22Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HTR3E-A86Thomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLSCR1-H262Yhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5PTF1A-S263Phomozygous0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.5THBS1-N700Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ENO3-V85Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYH8-W1692Rhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYH8-A636Vhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAH9-Q445Rhomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH9-M604Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5DNAH9-N2195Shet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.174 (benign)
0.5DNAH9-D4036Nhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.031 (benign)
0.5DNAH9-M4374Ihet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.659 (possibly damaging)
0.5RAI1-P165Thomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CTNS-T260Ihomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-P380Ahet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SHPK-D421Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SHPK-M413Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5DHODH-K7Qhomozygous0.560Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign)
0.5ZFHX3-K3420Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZFHX3-Q2014Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5ZFHX3-S72Ahet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYBA-Y72Hhet unknown0.649Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FANCA-T1328Ahet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5FANCA-S1088Fhet unknown0.036Unknown
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.
0.5FANCA-G809Dhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-P643Ahet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-G501Shomozygous0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-A412Vhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-T266Ahet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR179-E57Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5COL1A1-T1075Ahomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL1A1-P205Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO5B-L1055LLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-R918Hhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-T126Ahomozygous0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP8B1-A1152Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP8B1-R952Qhet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CD226-S307Ghet unknown0.423Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5RNMT-F395Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ZNF750-P288Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5ZNF750-M235Vhomozygous0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5SEPT4-E311Vhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.856 (probably damaging)
0.5SCN4A-N1376Dhomozygous0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AXIN2-A758Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AXIN2-P50Shomozygous0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TSEN54-V190Mhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-K347Nhomozygous0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhomozygous0.515Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAI2-A558Thomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HYDIN-E4159Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-T4004Ahet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-Q3904Shifthet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5HYDIN-M3868Rhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3839Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3741Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3738Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-L3315Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3290Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-I2693Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K2588Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-D2569Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-G2557Ehet unknown0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-TEKER2520Delhet unknown0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-L2501Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-P2454Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-N2444Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-E2305Ghet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.5HYDIN-R2297Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5HYDIN-Q2275Rhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-Q2241Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-V2098Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-R2086Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5HYDIN-R2017Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5HYDIN-I1533Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-V1228Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-I1077Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.082 (benign)
0.5HYDIN-N724Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-T690Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5SLC7A6OS-Y220Chet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5SLC7A6OS-G45Dhomozygous0.709Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEXA-I436Vhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMEM202-R23Whet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ADAMTSL3-H146Rhomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5ADAMTSL3-L290Vhet unknown0.833Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTSL3-V661Lhet unknown0.711Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ADAMTSL3-T1660Ihet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HAPLN3-G333Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5CYP19A1-R264Chet unknown0.113Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5MGA-P628Qhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MGA-T716Shomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MGA-P1523Ahet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5SPTBN5-A3240Ghet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-Q2827Rhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-G2786Rhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-T2678Ihet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-R1848*het unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SPTBN5-R1310Hhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-V1025Ihet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-C1000Rhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-Q960Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SPTBN5-H398Rhomozygous0.870Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLA2G4D-R807Qhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.976 (probably damaging)
0.5PLA2G4D-R783Qhet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5PLA2G4D-A649Ghet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PLA2G4D-Y627Chet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLA2G4D-R601Hhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PLA2G4D-S434Thet unknown0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.064 (benign)
0.5PLA2G4D-P275Rhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLA2G4D-P10Thet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.11 (benign)
0.5CEP152-L914Vhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IQGAP1-M1231Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5NR_027242-N339Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PRRT2-P216Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5ZNF764-A332Vhet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.831 (possibly damaging)
0.5ZNF764-R52Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SALL1-V1275Ihomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RANBP10-A570Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SH2B1-T484Ahet unknown0.217Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5KIAA0556-R885Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5KIAA0556-A1267Thomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ERCC4-I706Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5ABCC6-R1064Whet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-M848Vhomozygous0.954Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-H632Qhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ITPRIPL2-R308Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5IL4R-I75Vhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IL4R-P675Shet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.967 (probably damaging)
0.5PDILT-G529Ehet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PDILT-R527Khet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PDILT-P415Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PDILT-A26Thet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5REXO1-R214Chet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5ZFR2-I718Mhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.943 (probably damaging)
0.5ZFR2-A577Thet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5TCN2-I23Vhet unknown0.091Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5TCN2-R259Phet unknown0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TCN2-S348Fhet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TCN2-R399Qhet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests
0.5ISX-S28Ghomozygous0.810Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ISX-R83Qhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ISX-T182Mhomozygous0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5EFCAB6-A1059Vhomozygous0.763Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EFCAB6-H767Yhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5EFCAB6-I761Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.286 (possibly damaging)
0.5EFCAB6-R199Ghet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.971 (probably damaging)
0.5ARSE-G424Shomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5HPS4-Q620Hhomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.807Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhet unknown0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghet unknown0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TPTE-L470Phomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TPTE-K386Ehomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TPTE-R229*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PSMF1-F36Chomozygous0.747Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PSMF1-R242Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5TGM6-M58Vhomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TGM6-V527Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5RALGAPA2-E189Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5PCK1-V184Lhomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK1-A548Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LBP-D283Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5MXRA5-L2531Vhomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MXRA5-G2000Shomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MXRA5-P1665Shomozygous0.417Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.5MXRA5-G1394Dhomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MXRA5-A1128Vhomozygous0.547Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MXRA5-I824Vhomozygous0.795Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MXRA5-D222Nhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5PIR-R97Whet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5RAB40A-H45Lhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.907 (probably damaging)
0.5H2BFM-Q73*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5RIPPLY1-N121Shet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FATE1-G107Dhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging)
0.5TBX22-E187Khet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R2937Qhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_027444-W159Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5BC112980-K147Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ALAS2-R218Chet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ITIH5L-W1041Shet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5DEFB126-P106Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF530-T64Ahomozygous0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.827 (possibly damaging)
0.5ZNF530-H110Qhomozygous0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF530-C493Yhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ICAM1-K469Ehet unknown0.297Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NOTCH3-A2223Vhomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-V1952Mhet unknown0.008Unknown
benign
Low clinical importance,
uncertain
Probably benign.
0.5AKAP8-R295Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5FAM129C-D182Yhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5FAM129C-G603Shomozygous0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.101 (benign)
0.5ZNF846-Y492Chet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ZNF846-C450Yhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF846-H356Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ZNF562-N301Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF562-G141Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MPND-R235Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5STXBP2-I526Vhomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN3-E2610Dhet unknown0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-G1614Shomozygous0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-D662Nhomozygous0.984Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-V495Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FBN3-P329Lhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF317-Q19Hhomozygous0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ZNF317-Q19Hhomozygous0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5MUC16-V14466Lhomozygous0.888Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-T13915Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MUC16-V13167Mhomozygous0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-V12699Ihet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MUC16-G12695Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MUC16-A12694Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MUC16-S12514Thet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-E12448Khet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-V12388Ihet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MUC16-E12290Khet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-T12140Mhet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-G11455Dhet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-A11199Ghet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-S11154Fhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-V11097Mhet unknown0.468Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-P10828Shet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-F10169Lhet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-T10155Ihet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-L10013Phomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-I9920Thomozygous0.848Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-V9909Ihet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-Y9899Fhet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-D9850Ehet unknown0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-H9513Qhet unknown0.410Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-A9502Thet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-Q9405Rhet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-I9213Thomozygous0.846Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-D9129Ehet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-D8344Ahet unknown0.583Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-N8301Thomozygous0.873Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-D7923Ahet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-I7272Vhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-I5751Thet unknown0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-H5741Dhet unknown0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-P5537Shet unknown0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-N5228Ihet unknown0.796Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-S5045Phet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-I4902Vhet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-H4166Nhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-T4077Shet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-I4034Fhet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-G3826Ehet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-T3788Ihet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-T3723Mhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-R3573Hhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-V3530Ihet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-K3506Thet unknown0.247Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-R3499Mhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-S3337Lhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-S3215Ghet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-S3190Thet unknown0.677Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-T2891Ihet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-T2506Ahet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-Y1898Dhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-K1400Nhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC16-K1266Nhet unknown0.815Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHST8-R77Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5FAM187B-W231*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FAM187B-V216Ihet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5FAM187B-C160Rhet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ETFB-T245Mhet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ETFB-P94Shifthet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5FPR1-E346Ahomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-N192Khet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-V101Lhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.831Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LILRA5-P293Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.855 (probably damaging)
0.5ZSCAN5B-V208Ihet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.07 (benign)
0.5ZSCAN5B-P187Shet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.996 (probably damaging)
0.5ZSCAN5B-S8Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5FUT2-W154*het unknown0.364Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FUT2-G258Shet unknown0.390Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.954 (probably damaging)
0.5SIX5-P635Shomozygous0.533Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PRX-G1132Rhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5EGLN2-S58Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.87 (probably damaging)
0.5CYP2B6-Q172Hhet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign)
0.5CYP2B6-K262Rhet unknown0.298Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CYP2B6-R487Chet unknown0.074Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.005 (benign)
0.5ERCC2-K751Qhet unknown0.218Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP2A13-R381Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CNOT1-R299Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.907 (probably damaging)
0.5BDNF-V148Mhet unknown0.208Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HEBP1-E183Dhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5PIK3C2G-P129Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PIK3C2G-P146Lhet unknown0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PIK3C2G-P911Lhet unknown0.371Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PIK3C2G-H1227Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABCC4-G187Whet unknown0.070Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SH2B3-W262Rhet unknown0.768Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5UTP14C-G85Vhomozygous0.559Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UTP14C-T101Ahet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5UTP14C-R319Hhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SORL1-Q1074Ehomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SORL1-G1258Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5SORL1-V1967Ihomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-S112Ahomozygous0.646Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.659Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.131 (benign)
0.5ATM-N1983Shomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-K192Ehomozygous0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-A547Shet unknown0.164Complex/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.
0.5RPGRIP1-E1033Qhomozygous0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phomozygous0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAG1-R449Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests
0.5TEP1-S1195Phomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-N307Khomozygous0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S116Phet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CARS2-T188Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5NR_028064-T138TRAHThet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_028064-T138TRAHThet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_028064-H92Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MAP3K11-R730Hhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging)
0.5ATP6V0A2-V420Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahomozygous0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5B3GALTL-E370Khomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5B3GALTL-V403Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5NDUFA9-P294Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5GJA3-T56Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SLC22A8-I190Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.945 (probably damaging)
0.5LRRK2-R50Hhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-S1647Thet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thomozygous0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA1704-P197Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5CLECL1-S52Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ATP7B-V1140Ahomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-R952Khomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-K832Rhomozygous0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-V456Lhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-S406Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR133-S523Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SDSL-L229Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RAG2-F386Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5FNDC3A-T1017Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5SLC7A7-A91Vhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.039 (benign), Testable gene in GeneTests with associated GeneReview
0.5KRT4-G160GAGGFGAGFGTGGFGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DCHS1-D2628Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DCHS1-T2615Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CAPRIN2-M519Vhet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CAPRIN2-P114Shet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SERPINA1-V237Ahomozygous0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC9-V734Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCM-I208Mhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.548 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5MYO7A-S1666Chomozygous0.610Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L1954Ihet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UBQLNL-W379Ghomozygous0.956Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UBQLNL-A275Vhet unknown0.506Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UBQLNL-Y274Hhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.5UBQLNL-R230Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5UBQLNL-C171Rhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5KRT83-H493Yhet unknown0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NM_001080841-R42Chet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_001080841-R85Chet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_001080841-R102*het unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5LARP4-F351Lhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5PACS2-P714Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SERPINA12-R211*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CCDC62-T646Mhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5CCDC81-H303Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.305 (possibly damaging)
0.5CCDC81-Q551Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CCDC81-L558Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.972 (probably damaging)
0.5TTC8-K95Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZFYVE26-N1891Shomozygous0.900Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1871Yhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1457Yhet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5ZFYVE26-S615Fhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests
0.5HOXC6-R67Whet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ITGA7-R279Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MRGPRX1-F273Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.941 (probably damaging)
0.5MRGPRX1-A46Thet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.033 (benign)
0.5MEIS2-H421Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5CCDC34-N298Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.929 (probably damaging)
0.5SYNE2-R1393Whet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.54 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-M1969Thomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhomozygous0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhomozygous0.622Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhomozygous0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-L5186Mhet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TENC1-Q938Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5INSC-R36Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.319 (possibly damaging)
0.5INSC-D329Nhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5MICALCL-V70Ihet unknown0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICALCL-A305Thomozygous0.936Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICALCL-S313Ghet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.923 (probably damaging)
0.5MICALCL-R671Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5GALC-T641Ahomozygous0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-P844Lhet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375HLA-DQB1-D167Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375HLA-DQB1-G157Ahet unknown0.539Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375HLA-DQB1-G157Shet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375HLA-DQB1-V148Ihet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375HLA-DQB1-D12Ghet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375HPS1-Q604Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375HPS1-P491Rhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.983 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.375HPS1-R263Whet unknown0.008Unknown
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).
0.375EP300-I997Vhet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375EP300-P1910Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375NAT2-I114Thet unknown0.220Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.375NAT2-R268Khet unknown0.675Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-D100Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-S22Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SNX19-L878Rhet unknown0.808Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SNX19-N753Shet unknown0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-L618Fhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-P480Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.977 (probably damaging)
0.25SNX19-G381Shet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SNX19-V361Lhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALG9-V289Ihet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25CYP4F2-V433Mhet unknown0.216Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.309 (possibly damaging)
0.25CYP4F2-W12Ghet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25DBH-A318Shet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25ITGA6-A380Thet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-R337Qhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-T312Ihet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-L278Vhet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CASP10-L522Ihet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUSK-S159Ghet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25ABCB11-V444Ahet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25DL492456-R148Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DL492456-Y109ChomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DL492456-W104*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF224-M118Vhomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF224-H162Lhomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.25ZNF224-K640Ehet unknown0.593Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SULT1C4-D5Ehet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DLL3-L218Phet unknown0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NPHS1-E117Khet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25RGSL1-D106Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RGSL1-I683Vhomozygous0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GREB1-N77Thet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.129 (benign)
0.25GREB1-Q256Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GREB1-A257Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GREB1-D1687Nhomozygous0.426Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CALHM1-L86Phet unknown1.000Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25KCNQ4-H455Qhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.25CPT2-V368Ihet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25USH1C-E819Dhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ARSA-T391Shet unknown0.423Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ARSA-N350Shet unknown0.241Unknown
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.
0.25SHANK3-I245Thet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KAL1-V534Ihet unknown0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A2-Q326Rhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SBF2-Q1216Ehet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.25F9-T194Ahet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25KRTAP5-5-A53Ghet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KRTAP5-5-A53Ghet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KRTAP5-5-G59GGCGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CDA-K27Qhet unknown0.190Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PINK1-N521Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRWD3-K1288Rhomozygous0.967Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BRWD3-R102Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SMPD1-G508Rhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALPL-Y263Hhet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PNPLA3-I148Mhet unknown0.268Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.778 (possibly damaging)
0.25PNPLA3-K434Ehomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CASQ2-T66Ahet unknown0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25POLA2-G583Rhet unknown0.118Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.024 (benign)
0.25KCNE1-S38Ghet unknown0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25MMP9-Q279Rhet unknown0.477Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DNAH14-T43Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DNAH14-F405Lhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DNAH14-L828Vhomozygous0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-K1010Rhomozygous0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-R1011Qhomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-M1110Ihomozygous0.663Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-T1850Mhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-K1925Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DNAH14-N2435Shet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DNAH14-D3393Ehet unknown0.521Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-K3474Ehet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-V3627Ahet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-R3670Khet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-N3969Khomozygous0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-F4244Chomozygous0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KLF11-Q62Rhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging), Testable gene in GeneTests
0.25ERCC6-G399Dhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SPTBN2-H1516Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPTBN2-S825Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COL6A2-S399Nhet unknown0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HMCN1-I2418Thomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.25HMCN1-E2893Ghet unknown0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.25GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PDE6C-S270Thet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FCGR3A-F212Vhet unknown0.818Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TRIOBP-S217Nhet unknown0.413Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-E1372Dhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.25TNN-A70Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TNN-R79Ghet unknown0.533Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TNN-W807Rhet unknown0.478Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.104 (benign)
0.25TNN-P930Lhomozygous0.565Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25TNN-T941Mhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.25TNN-Q1074Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BMPR1A-P2Thet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYH9-I1626Vhet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25INHBC-T144Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25INHBC-R322Qhet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.765 (possibly damaging)
0.25SFTPC-T138Nhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CLN5-R2Chet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GPR56-S281Rhet unknown0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SH3TC2-A468Shet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25CD19-L174Vhet unknown0.876Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PALB2-Q559Rhet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NIPAL4-R213Ghet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25TCOF1-P1139Rhet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-G355Rhet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NR_002144-DDDFE68Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_002144-SE75Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_002144-L77Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NR_002144-Y307Hhomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRRC50-K393Rhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-P502Lhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L659Vhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25CPS1-T344Ahet unknown0.583Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25NR_027336-P160Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_027336-W23*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25PKD1L2-M2313Ihomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2207Rhomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2137Fhomozygous0.870Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L2117Ihet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2079Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PKD1L2-A2054Thet unknown0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2048Shet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P2045Lhomozygous0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q2035Rhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M1866Vhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G1847Rhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q1701Hhet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-D1632Ghet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G1268Shet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P1065Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKD1L2-T1048Ahet unknown0.679Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q999Hhet unknown0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L711Phomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P512Lhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-K416Qhomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P301Ahet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R252Whet unknown0.560Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-N236Shifthet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25PKD1L2-E221Ghomozygous0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q220*het unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25PKD1L2-L173Shet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G129Dhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q120Lhomozygous0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-K77Nhet unknown0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-W73Rhomozygous0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-V20Ahomozygous0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VCAN-K1516Rhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-R1826Hhet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25VCAN-F2301Yhet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-D2937Yhet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.25NOS3-D298Ehet unknown0.844Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HSD17B4-W511Rhet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests
0.25HSD17B4-I559Vhet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.25APC-V1822Dhet unknown0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYH6-V1101Ahet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PKD1-A3512Vhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25COL9A1-Q621Rhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LMBRD1-D469Ehet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25GATM-Q110Hhet unknown0.651Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC28A2-P22Lhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A2-S75Rhet unknown0.253Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SPG11-F463Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SOD2-V16Ahet unknown0.362Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PLG-D472Nhet unknown0.151Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TTBK2-L8Phet unknown0.560Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUT-R532Hhet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NPSR1-N107Ihet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25MICA-L145Vhet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-G198Shomozygous0.337Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-I236Thet unknown0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-R274Qhet unknown0.538Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SEMA3D-K701Qhet unknown0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SEMA3D-S361Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25HLA-H-S182Whet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-H-C238Shet unknown0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC28A1-V189Ihet unknown0.313Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-Q237Khet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.226Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25EXD2-Q376Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EXD2-Q393Hhet unknown0.807Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PEX6-P939Qhet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KIF6-W719Rhet unknown0.538Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.01 (benign)
0.25SPATA7-V74Mhet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL11A2-E276Khet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25GHR-I544Lhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25ROR2-V819Ihet unknown0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ROR2-T245Ahet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DRD3-G9Shet unknown0.482Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf54-C131ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf54-L161Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C17orf54-L161Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25COL2A1-G1405Shet unknown0.187Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COG1-N392Shet unknown0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRIP1-S919Phet unknown0.652Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TPTE2P1-W112*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25TPTE2P1-I70VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CNGB3-T298Phet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.25CNGB3-C234Whet unknown0.939Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TMEM67-I604Vhet unknown0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ITGB4-L1779Phet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A3-A3012Phet unknown0.843Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A3-M2927Thet unknown0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT6B-I365Vhet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25CELA1-Q243Rhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CELA1-R44Whet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CELA1-Q10Hhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.463 (possibly damaging)
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KRT6C-R182Qhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25RAX-D44Ehet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25FLNB-D1157Nhet unknown0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25FLNB-V1471Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.25GAA-H199Rhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-R223Hhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-V780Ihet unknown0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MMAB-M239Khet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FKTN-R203Qhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.25EIF2B5-I587Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25BANK1-A383Thet unknown0.233Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.778 (possibly damaging)
0.25BANK1-C650Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRRC48-R191Whet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRRC48-R444Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25HADH-L86Phet unknown0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AK298931-E88Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK298931-W38*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AK298931-T4Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NLRP1-M1184Vhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NLRP1-V1059Mhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25NLRP1-L155Hhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign)
0.25BBS12-R386Qhet unknown0.515Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.25ESCO2-A80Vhet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HELQ-V306Ihet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HELQ-E42Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25HELQ-V35Ehomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UGT2B7-Y268Hhet unknown0.727Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HTT-T1720Nhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HTT-Y2309Hhet unknown0.459Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GGH-A31Thet unknown0.198Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CLDN16-R55Shifthet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.25RP1-R872Hhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-N985Yhet unknown0.206Unknown
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.
0.25RP1-A1670Thet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-S1691Phet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RP1-C2033Yhet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25KRT14-A94Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT14-C63Yhet unknown0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25JUP-M697Lhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-S1634Ghet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-K1183Rhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-E1038Ghet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25BRCA1-P871Lhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ZBTB49-C160*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZBTB49-Y320Shet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0H6PD-R453Qhet unknown0.407Recessive
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).
0BCHE-G418Vhet unknown0.008Recessive
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.
0CD40LG-G219Rhet unknown0.022Recessive
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.
0MBL2-G54Dhet unknown0.102Recessive
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).
0HFE-C282Yhet unknown0.018Recessive
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.
0CLEC7A-Y238*het unknown0.043Recessive
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

Gene search

"GENE" or "GENE A123C":

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