Variant report for hu646527
- Data source: hu646527: var-GS000036648-ASM.tsv.bz2
- This report: evidence.pgp-hms.org/genomes?dd3e2994c614c51fd066afd665e79ca0e9a907d9
- Person ID: hu646527
- public profile: my.pgp-hms.org/profile/hu646527
- Download: source data, dbSNP and nsSNP report (118 MB)
- Processing status: processing
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Log file:
| Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
|---|---|---|---|---|---|---|---|
| 1 | APOE-C130R | High | Well-established | Well-established pathogenic Complex/Other, Heterozygous | 0.135392 | This is generally known as the ApoE4 allele of ApoE and is associated with increased risk of Alzheimer's. 20-25% of individuals are heterozygous for this variant, and 1-2% are homozygous. Data from Khachaturian et al. suggests an average 7% of all individuals developed Alzheimer's by the age of 80; when this is split by ApoE4 status: 10% of ApoE4 heterozygotes (3% increased attributable risk), 40% of ApoE4 homozygotes (33% increased attributable risk), and 5% of non-carriers (2% decreased attributable risk). Notably, their model suggests 70-75% of people would eventually develop Alzheimer's by the age of 100 regardless of ApoE4 genotype (and 25-30% are resistant, regardless of genotype), but that ApoE4 variants shift the disease onset to occur significantly earlier (4 years earlier for heterozygous carriers, 13 years for homozygotes). | 1 |
| 2 | SIAE-M89V | Moderate | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.0400632 | This variant was reported to be associated with autoimmune disease when homozygous. However, a later publication has contradicted this result, finding no significant association between this variant and autoimmune disease in a very large cohort. | 1 |
| 3 | PPARG-P12A | Moderate | Uncertain | Uncertain not reviewed Unknown, Heterozygous | 0.0886782 | 1 | |
| 4 | PRF1-A91V | Low | Likely | Likely pathogenic Complex/Other, Heterozygous | 0.0325339 | This variant may be associated with a slightly increased susceptibility to some rare blood disorders, in particular autoimmune proliferative disease, if combined with a more severe mutation elsewhere. Most reports lack statistical significance. | 1 |
| 5 | MBL2-R52C | Low | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.048615 | 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 D. See G54D (variant B) and G57E (variant C). | 1 |
| 6 | MTRR-I49M | Low | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.451199 | This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V. | 1 |
| 7 | AMPD1-Q12X | Low | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.0930643 | Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly. | 1 |
| 8 | BRCA2-N372H | Low | Uncertain | Uncertain pathogenic Recessive, Homozygous | 0.23656 | This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous. | 1 |
| 9 | RNASEL-R462Q | Low | Uncertain | Uncertain pathogenic Complex/Other, Homozygous | 0.278026 | Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases. | 1 |
| 10 | ELAC2-S217L | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.273471 | Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total). | 1 |
| 11 | TGIF1-P83Shift | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.138889 | Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own. | 1 |
| 12 | KDR-C482R | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.0209147 | Hypothesized to cause a higher risk of benign neonatal hemangiomas (which are seen in 10% of children). However, observations lacked statistical significance. | 1 |
| 13 | WFS1-R611H | Low | Uncertain | Uncertain not reviewed Recessive, Carrier (Heterozygous) | 0.400446 | This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.). | 1 |
| 14 | TP53-P72R | Low | Uncertain | Uncertain pathogenic Unknown, Homozygous | 0.627743 | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. | 1 |
| 15 | SP110-L425S | Low | Uncertain | Uncertain pathogenic Unknown, Heterozygous | 0.863357 | This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect. | 1 |
| 16 | PRNP-M129V | Low | Well-established | Well-established protective Complex/Other, Heterozygous | 0.339561 | This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. | 1 |
| 17 | NPC1-H215R | Low | Likely | Likely protective Complex/Other, Heterozygous | 0.295687 | This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). | 1 |
| 18 | KCNJ11-K23E | Low | Likely | Likely protective Unknown, Heterozygous | 0.738148 | This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant. | 1 |
| 19 | IL7R-T244I | Low | Likely | Likely protective Unknown, Heterozygous | 0.210169 | The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000). | 1 |
| 20 | TYR-R402Q | Low | Well-established | Well-established benign Complex/Other, Heterozygous | 0.204964 | This is a frequent pigmentation polymorphism in Europeans that affects function of the Tyrosinase gene. It is associated with blue instead of green eyes and sun sensitivity. For the most part this variant is benign, but many individuals with ocular albinism (which affects only the eyes) carry this variant along with another more severe variant in the same gene. | 1 |
| 21 | CEP290-D664G | Low | Likely | Likely benign Unknown, Heterozygous | 0.00878754 | Reported as a non-pathogenic polymorphism, appears to be more common in East Asians. | 1 |
| 22 | CACNA1S-L458H | Low | Likely | Likely benign Unknown, Heterozygous | 0.27282 | Common polymorphism | 1 |
| 23 | NEFL-S472Shift | Low | Likely | Likely benign Unknown, Homozygous | Although a frameshift in this gene would be predicted to cause Charcot-Marie Neuropathy, this particular position appears to reflect a single base insertion error/mutation in the reference genome (in other words, normal individuals are always homozygous for a deletion at this position relative to reference). See chr8:24,811,060-24,811,080 annotations on UCSC. | 1 | |
| 24 | NOTCH3-A1020P | Low | Likely | Likely benign Unknown, Heterozygous | 0.111835 | Probably nonpathogenic. Reported by Scheid et al. as possibly causing CADASIL in a dominant manner, but an immediate follow-up from Quattrone et al. disagreed with this hypothesis, pointing to the presence of the variant in their own controls and the high allele frequency for the variant seen in dbSNP data. | 1 |
| 25 | SDHD-G12S | Low | Likely | Likely benign Unknown, Heterozygous | 0.008087 | Reported to increase risk of Cowden disease, although this was already contradicted by a prior report of it as a non-pathogenic polymorphism. The report claiming a pathogenic effect (Ni et al.) may have had errors in analysis, and their observation of the variant in patients isn't different from the frequency of the variant in ExAC data. | 1 |
| 26 | MLH1-I219V | Low | Uncertain | Uncertain benign Dominant, Heterozygous | 0.239822 | Computational evidence, functional assays, and case/control studies suggest this variant is probably benign. | 1 |
| 27 | RPGRIP1-A547S | Low | Uncertain | Uncertain benign Complex/Other, Heterozygous | 0.232202 | Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal. | 1 |
| 28 | USH2A-V230M | Low | Uncertain | Uncertain benign Recessive, Carrier (Heterozygous) | 0.0157092 | This rare variant may be associated with Usher Syndrome II, but the literature seems to have concluded that it is a non-pathogenic polymorphism (including authors who earlier reported it as pathogenic). | 1 |
| 29 | FMO3-V257M | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.0570738 | This common variant (HapMap allele frequency of 9.2%) appears to have no functional effect. OMIM has recorded it as having been seen homozygously in an individual with Trimethylaminuria, but Treacy et al. 1998 conclude it is a polymorphism. | 1 |
| 30 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
| 31 | DYNC2H1-Q304L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0484135 | Presumed benign. | 1 |
| 32 | SPTA1-A970D | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0373134 | This variant, also called alpha-IIa, has been seen frequently in individuals with recessive Hereditary spherocytosis. This appears to be the result of linkage to alpha-LEPRA (a C>T substitution at position -99 of intron 30); A970D is later reported as functionally neutral. | 1 |
| 33 | AMPD1-P48L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0940695 | Probably benign, ancestral to15173240 pathogenic Q12X mutation. | 1 |
| 34 | PKP2-L366P | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.221231 | This variant is a benign polymorphism. | 1 |
| 35 | PCSK9-G670E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.888269 | This variant is likely benign. | 1 |
| 36 | PTCH1-P1315L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.29631 | Common polymorphism, presumed benign. | 1 |
| 37 | RP1-N985Y | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.348671 | Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant. | 1 |
| 38 | TPCN2-G734E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.286166 | Pigmentation allele. | 1 |
| 39 | GUCY2D-A52S | Low | Uncertain | Uncertain benign Recessive, Carrier (Heterozygous) | 0.21016 | One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect. | 1 |
| 40 | SLC45A2-L374F | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.691764 | Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma. | 1 |
| 41 | TYR-S192Y | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.270682 | This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3). | 1 |
| Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
|---|
Exome coverage: 31133276 / 33282720 = 93.54%
| Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
|---|---|---|---|---|---|---|
| 1 | AGRN | 1 | 0.20902574128381 | 4855 | 6138 | 955553-955753, 957581-957644, 957657-957748, 957756-957842, 970657-970704, 976045-976260, 976553-976777, 976858-977030, 977036-977082, 977336, 977341-977347, 977378-977497, 977502, 977506-977518, 977531, 978619-978634, 978650-978665, 978685-978828, 978918-978951, 978972-978996, 979004-979007, 979019, 979022-979081, 979091-979092, 979096-979097, 979103-979112, 979203-979205, 979226-979403, 979489-979541, 979553, 979593-979637, 979714-979762, 979782-979783, 979788-979804, 980549-980632, 980739-980766, 980777-980807, 980821-980833, 980848-980903, 981113-981128, 981156-981191, 981208-981215, 981227-981256, 981344-981468, 981543, 981546-981558, 981608-981611, 981616-981622, 981631-981645, 981777-981804, 981808-981810, 981828-981836, 981853, 981868, 981872, 981882-981904, 981919-981998, 982005-982084, 982200-982298, 982309-982327, 982333-982336, 982707-982834, 982953-982957, 982965-982983, 982994, 983007, 983009-983012, 983018, 983021-983024, 983049-983067, 983156-983208, 983219-983275, 983396-983745, 984247-984401, 984419, 984616-984767, 984771, 984775-984784, 984790-984813, 984946-984973, 984997-985016, 985027, 985033, 985037-985052, 985062-985175, 985283-985324, 985333-985361, 985375-985417, 985621-985625, 985635-985669, 985676-985680, 985687, 985703-985704, 985807-985813, 985832-985833, 985838-985901, 985917-985944, 986106-986123, 986136-986171, 986197, 986200, 986216-986217, 986633-986674, 986680-986749, 986833-986901, 986915-986938, 986946-986969, 986973, 986983, 986995-987018, 987024, 987108-987115, 987121-987133, 987150-987195, 989133-989139, 989160-989203, 989206, 989209, 989218-989224, 989236-989256, 989287-989291, 989345-989351, 989828-989832, 989849-989877, 989887-989931, 990210-990300, 990304-990313 |
| 2 | GABRD | 1 | 0.35688005886681 | 874 | 1359 | 1950863-1950930, 1956381-1956423, 1956444-1956472, 1956480-1956493, 1956797-1956840, 1956957-1957015, 1957037, 1957049-1957067, 1957081-1957177, 1959018, 1959028-1959029, 1959064-1959075, 1959637, 1959641-1959642, 1959681, 1959692-1959707, 1960556-1960590, 1960618, 1960630, 1960632-1960635, 1960655-1960705, 1960990-1961017, 1961032-1961070, 1961082-1961108, 1961130, 1961133-1961198, 1961422-1961476, 1961484-1961539, 1961582, 1961585-1961591, 1961605-1961608, 1961619-1961681, 1961687, 1961697-1961721 |
| 3 | PEX10 | 1 | 0.75739041794088 | 238 | 981 | 2337266-2337273, 2337923-2337936, 2337943-2337947, 2337956-2337975, 2338178-2338185, 2338226-2338268, 2340019-2340030, 2340161-2340162, 2340172-2340181, 2340200, 2340270-2340272, 2343830-2343941 |
| 4 | NPHP4 | 1 | 0.93809857509928 | 265 | 4281 | 5925252, 5934702-5934707, 5935124-5935125, 5935134, 5935147-5935148, 5935160, 5947373-5947386, 5947413, 5947468-5947477, 5947498-5947511, 6012790, 6021868, 6027359-6027361, 6027391-6027392, 6027423, 6029169, 6029186, 6029189-6029190, 6029225, 6038330-6038473, 6046239-6046259, 6046315-6046349 |
| 5 | ESPN | 1 | 0.78986354775828 | 539 | 2565 | 6485021-6485089, 6485097, 6485103-6485116, 6485119-6485188, 6485204-6485265, 6485271-6485297, 6488301-6488336, 6488377-6488392, 6488426-6488432, 6488460-6488479, 6500389, 6500412-6500437, 6500449-6500489, 6500686-6500692, 6500701-6500703, 6500712-6500726, 6500753-6500794, 6500830-6500868, 6500994, 6505743-6505750, 6505848, 6505851-6505855, 6508885, 6509054-6509060, 6509139-6509145, 6511679-6511680, 6511687, 6511693, 6511706, 6511910, 6512127-6512133 |
| 6 | PLEKHG5 | 1 | 0.97679523361555 | 74 | 3189 | 6528113, 6528117-6528118, 6529726, 6530351-6530354, 6532666, 6533412-6533419, 6534529-6534546, 6534642-6534645, 6556556, 6556565, 6556568-6556581, 6556594, 6556616-6556629, 6557380-6557383 |
| 7 | PEX14 | 1 | 0.97442680776014 | 29 | 1134 | 10659339, 10684438-10684454, 10689678, 10689726-10689731, 10689801-10689804 |
| 8 | TARDBP | 1 | 0.99437751004016 | 7 | 1245 | 11082356-11082362 |
| 9 | MASP2 | 1 | 0.7117903930131 | 594 | 2061 | 11097868, 11102940-11102953, 11102956-11102979, 11102992-11102993, 11102996-11103027, 11103050-11103079, 11103408-11103531, 11103542-11103565, 11105476-11105527, 11105537-11105575, 11105594-11105596, 11106613-11106628, 11106696-11106733, 11106748-11106790, 11106948-11107032, 11107081-11107099, 11107110-11107142, 11107162-11107176 |
| 10 | MTHFR | 1 | 0.97767630644343 | 44 | 1971 | 11853986-11853992, 11854080-11854115, 11854591 |
| 11 | PLOD1 | 1 | 0.98672161172161 | 29 | 2184 | 12024708, 12024773, 12030740-12030764, 12030831, 12030836 |
| 12 | CLCNKA | 1 | 0.66182170542636 | 698 | 2064 | 16349183-16349185, 16351269-16351278, 16353073-16353082, 16353241-16353244, 16353256, 16353893-16353930, 16354391-16354397, 16354602, 16354612, 16355313-16355340, 16355621-16355645, 16355650-16355652, 16355678-16355680, 16355683-16355685, 16355688, 16355707-16355734, 16355741-16355748, 16355752, 16355755-16355759, 16355766, 16355774-16355776, 16355785-16355787, 16355790-16355794, 16356231-16356263, 16356294-16356295, 16356460-16356472, 16356494-16356530, 16356559-16356561, 16356570, 16356956-16357021, 16357028-16357070, 16357077-16357169, 16358217-16358225, 16358251-16358254, 16358281-16358327, 16358719-16358786, 16358938-16358960, 16358996-16358998, 16359665, 16359704-16359751, 16360106-16360117 |
| 13 | CLCNKB | 1 | 0.69961240310078 | 620 | 2064 | 16371044, 16372117-16372169, 16374409, 16374838, 16374891-16374903, 16375615-16375620, 16375654-16375666, 16376380-16376401, 16377083-16377095, 16377370-16377383, 16377441-16377459, 16377490-16377496, 16377523-16377543, 16377996-16378018, 16378269-16378310, 16378693-16378712, 16378722-16378728, 16378736-16378850, 16378867-16378906, 16380134, 16380148-16380151, 16380156-16380162, 16380177-16380196, 16380217-16380267, 16381935-16381968, 16382016, 16382170-16382180, 16382221, 16382228-16382238, 16382951-16382988, 16383364-16383373 |
| 14 | ATP13A2 | 1 | 0.89697996048546 | 365 | 3543 | 17312725-17312747, 17312783-17312785, 17312789, 17312811, 17312989-17313016, 17313052-17313058, 17313101-17313108, 17313341-17313368, 17313577, 17313590-17313627, 17313651-17313657, 17313664-17313718, 17314890-17314893, 17314942, 17318306-17318329, 17318620-17318624, 17318846, 17319037, 17322490-17322508, 17322574, 17322972-17322991, 17323554-17323568, 17323597, 17323608-17323611, 17326507-17326536, 17326553-17326559, 17326613-17326634, 17338224-17338233 |
| 15 | ALDH4A1 | 1 | 0.91016548463357 | 152 | 1692 | 19202896, 19203955-19203974, 19203984, 19203987-19203988, 19204025-19204026, 19204073, 19208194, 19208199-19208204, 19208246-19208259, 19208322-19208328, 19208342, 19208354, 19209649-19209653, 19209682-19209692, 19209796-19209834, 19209908-19209920, 19215901-19215922, 19216536-19216540 |
| 16 | PINK1 | 1 | 0.99541809851088 | 8 | 1746 | 20960076, 20960087-20960093 |
| 17 | ALPL | 1 | 0.9968253968254 | 5 | 1575 | 21900268-21900270, 21904074-21904075 |
| 18 | HSPG2 | 1 | 0.96091378263509 | 515 | 13176 | 22149814-22149819, 22149867-22149888, 22149921-22149930, 22149935, 22149944, 22149972, 22149976-22149977, 22150197, 22150636-22150652, 22150838-22150869, 22151031, 22151107-22151108, 22151204, 22151221-22151236, 22154389-22154400, 22154592-22154599, 22154637-22154645, 22154799-22154805, 22154908-22154914, 22155435-22155436, 22155509-22155531, 22155551-22155572, 22155904, 22155975-22155981, 22156518, 22167653-22167657, 22168072-22168075, 22168586-22168589, 22168600, 22170675-22170677, 22172626-22172632, 22172637, 22173927, 22174284, 22174288-22174290, 22174533-22174573, 22175267, 22175454, 22176924-22176925, 22176934, 22176938, 22178581-22178589, 22181392, 22182040, 22182056, 22186458, 22188269, 22191807, 22192257-22192261, 22199136-22199139, 22199159-22199165, 22199516-22199528, 22206600-22206613, 22207001-22207004, 22207252, 22211094-22211112, 22211143-22211144, 22211279-22211282, 22211599, 22211602-22211608, 22211635-22211642, 22211854-22211876, 22216920-22216925, 22216950-22216978, 22217148, 22263648-22263710 |
| 19 | WNT4 | 1 | 0.8844696969697 | 122 | 1056 | 22456134-22456178, 22469339-22469415 |
| 20 | RPL11 | 1 | 0.99068901303538 | 5 | 537 | 24019231-24019234, 24020327 |
| 21 | GALE | 1 | 0.99808978032474 | 2 | 1047 | 24122644, 24122653 |
| 22 | HMGCL | 1 | 0.97034764826176 | 29 | 978 | 24134625-24134632, 24134710-24134730 |
| 23 | FUCA1 | 1 | 0.88579586009993 | 160 | 1401 | 24194441-24194513, 24194603-24194607, 24194636-24194658, 24194677, 24194686-24194736, 24194765-24194771 |
| 24 | LDLRAP1 | 1 | 0.92233009708738 | 72 | 927 | 25870190-25870225, 25870235-25870270 |
| 25 | SEPN1 | 1 | 0.88369304556355 | 194 | 1668 | 26126722-26126904, 26135187-26135197 |
| 26 | YARS | 1 | 0.97668557025835 | 37 | 1587 | 33252635-33252641, 33256793-33256822 |
| 27 | ZMPSTE24 | 1 | 0.98879551820728 | 16 | 1428 | 40726583, 40737647, 40747113, 40756533, 40756543-40756553, 40758328 |
| 28 | COL9A2 | 1 | 0.9792270531401 | 43 | 2070 | 40769253, 40769501-40769502, 40769600-40769624, 40770033-40770047 |
| 29 | KCNQ4 | 1 | 0.88649425287356 | 237 | 2088 | 41249766-41249836, 41249849-41249888, 41249908-41249938, 41249957-41249961, 41249970-41249991, 41249994, 41250003, 41250015-41250042, 41284188, 41284248-41284254, 41284288-41284314, 41284331, 41284337, 41296878 |
| 30 | CLDN19 | 1 | 0.99851851851852 | 1 | 675 | 43203976 |
| 31 | LEPRE1 | 1 | 0.99366802351877 | 14 | 2211 | 43212943-43212956 |
| 32 | POMGNT1 | 1 | 0.99495713565305 | 10 | 1983 | 46661533, 46661536, 46662403-46662408, 46662484, 46663466 |
| 33 | PCSK9 | 1 | 0.98749398749399 | 26 | 2079 | 55521697, 55521703-55521704, 55521714-55521716, 55521719-55521722, 55521756-55521757, 55521842-55521847, 55524232-55524239 |
| 34 | LEPR | 1 | 0.99685534591195 | 11 | 3498 | 66058412-66058419, 66074479-66074481 |
| 35 | DBT | 1 | 0.99930986887509 | 1 | 1449 | 100684254 |
| 36 | COL11A1 | 1 | 0.99853399303647 | 8 | 5457 | 103364262-103364268, 103364284 |
| 37 | NOTCH2 | 1 | 0.98004314994606 | 148 | 7416 | 120539665-120539714, 120539739-120539784, 120539916, 120547962-120547968, 120548025, 120548051, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120611960 |
| 38 | FLG | 1 | 0.8151157065485 | 2253 | 12186 | 152275614-152275617, 152276234, 152276463-152276465, 152276590-152276614, 152276648-152276654, 152276714-152276720, 152276912-152276914, 152277072-152277114, 152277123, 152277164, 152277315, 152277333, 152277376, 152277435-152277438, 152277442, 152277524-152277528, 152277585-152277591, 152277617-152277641, 152278049, 152278431-152278437, 152279210-152279215, 152279363-152279409, 152279457, 152279565-152279567, 152279576, 152279587, 152279590, 152279603, 152279639-152279678, 152279726-152279750, 152279795, 152279798, 152279838-152279851, 152279889-152279913, 152279949-152279994, 152280049-152280089, 152280184-152280222, 152280247-152280277, 152280292-152280295, 152280304-152280306, 152280339, 152280350-152280358, 152280477, 152280538-152280541, 152280546-152280547, 152280590, 152280597, 152280607, 152280633, 152280942-152280956, 152281101, 152281115, 152281236, 152281264, 152281276, 152281310, 152281322, 152281325, 152281488, 152281512-152281527, 152281576, 152281581, 152281589, 152281604-152281628, 152281689-152281692, 152281724, 152281763, 152281770-152281771, 152281801, 152281804, 152281896-152281931, 152281955-152281970, 152281981-152282033, 152282078-152282114, 152282174-152282199, 152282265-152282305, 152282357-152282390, 152282403-152282457, 152282536, 152282544-152282546, 152282823, 152282864-152282888, 152282917-152282918, 152282931, 152282939, 152282973-152282975, 152283004-152283017, 152283023, 152283079, 152283089-152283131, 152283141, 152283150, 152283165-152283196, 152283220-152283226, 152283233-152283294, 152283302-152283314, 152283341-152283349, 152283364, 152283465-152283470, 152283478-152283480, 152283509-152283550, 152283562-152283607, 152283670-152283698, 152283738, 152283796-152283843, 152283887-152283933, 152283940, 152283943-152283944, 152283947-152283950, 152283961-152283963, 152284007-152284037, 152284070-152284090, 152284119-152284128, 152284151-152284198, 152284241-152284242, 152284245, 152284274-152284280, 152284301-152284337, 152284365-152284407, 152284435-152284480, 152284488-152284527, 152284549-152284550, 152284603-152284617, 152284655, 152284847-152284882, 152284925-152284970, 152284979-152285028, 152285034-152285074, 152285109-152285141, 152285153-152285155, 152285167, 152285177-152285221, 152285279, 152285282, 152285313, 152285324-152285373, 152285397-152285432, 152285494-152285502, 152285643-152285657, 152285829, 152285833, 152285913, 152285968-152286005, 152286014-152286037, 152286048, 152286051, 152286056-152286057, 152286150-152286202, 152286276-152286318, 152286804-152286822, 152286855, 152286885, 152286901, 152286954, 152286957, 152286960-152286967, 152287001-152287019, 152287795-152287828, 152287870 |
| 39 | GBA | 1 | 0.96574770258981 | 41 | 1197 | 155184364-155184384, 155184426-155184435, 155185569-155185578 |
| 40 | GBA | 1 | 0.98137802607076 | 30 | 1611 | 155204836-155204854, 155205053-155205062, 155207288 |
| 41 | PKLR | 1 | 0.99536231884058 | 8 | 1725 | 155269913, 155269934, 155269989-155269994 |
| 42 | NTRK1 | 1 | 0.98870765370138 | 27 | 2391 | 156830727-156830733, 156830788-156830807 |
| 43 | MPZ | 1 | 0.998712998713 | 1 | 777 | 161279674 |
| 44 | F5 | 1 | 0.98591760299625 | 94 | 6675 | 169510377-169510434, 169510499-169510527, 169510647-169510653 |
| 45 | DARS2 | 1 | 0.99432404540764 | 11 | 1938 | 173794471, 173802630, 173810097, 173819559-173819566 |
| 46 | NPHS2 | 1 | 0.99913194444444 | 1 | 1152 | 179544848 |
| 47 | RNASEL | 1 | 0.99685534591195 | 7 | 2226 | 182545518-182545524 |
| 48 | HMCN1 | 1 | 0.99994085639934 | 1 | 16908 | 185902812 |
| 49 | CFH | 1 | 0.9978354978355 | 8 | 3696 | 196682984-196682991 |
| 50 | CFHR1 | 1 | 0.96374622356495 | 36 | 993 | 196797200-196797207, 196797292, 196797357, 196799637, 196801002-196801026 |
| 51 | ASPM | 1 | 0.98897834004217 | 115 | 10434 | 197069579, 197069737, 197069885-197069913, 197072095-197072097, 197072439-197072442, 197072596-197072627, 197073449-197073455, 197073519-197073525, 197073717-197073720, 197073932, 197073943-197073957, 197074218-197074224, 197093345-197093348 |
| 52 | CACNA1S | 1 | 0.99928850942725 | 4 | 5622 | 201027565-201027568 |
| 53 | PKP1 | 1 | 0.99541494727189 | 10 | 2181 | 201282428-201282429, 201292296-201292302, 201292305 |
| 54 | USH2A | 1 | 0.99846242552374 | 24 | 15609 | 216251488-216251510, 216251600 |
| 55 | ADCK3 | 1 | 0.89557613168724 | 203 | 1944 | 227149098, 227149139, 227152701-227152702, 227152797, 227152801, 227152817, 227152821, 227152825, 227152833, 227152836-227152845, 227152856, 227152859, 227152892-227152905, 227152922, 227152928-227152937, 227152945, 227153084-227153104, 227153407-227153434, 227169749, 227169755-227169779, 227169784-227169789, 227169839-227169842, 227170635-227170651, 227171494, 227171796-227171798, 227171802-227171803, 227171834-227171853, 227171909-227171934, 227174219 |
| 56 | GJC2 | 1 | 0.62045454545455 | 501 | 1320 | 228345482-228345496, 228345536, 228345547, 228345574, 228345605, 228345637-228345665, 228345762-228345773, 228345783-228345793, 228345795-228345802, 228345851-228345891, 228345902, 228345905, 228345909-228345912, 228345923, 228345929, 228345947, 228345952-228345958, 228346060, 228346063-228346064, 228346076-228346118, 228346141-228346152, 228346204-228346206, 228346268, 228346274, 228346290, 228346293, 228346299, 228346303-228346306, 228346309, 228346314, 228346319-228346332, 228346339-228346363, 228346375-228346507, 228346532-228346559, 228346603-228346648, 228346655-228346693, 228346709-228346712, 228346750, 228346760-228346762 |
| 57 | ACTA1 | 1 | 0.9347442680776 | 74 | 1134 | 229567781-229567814, 229567846-229567881, 229568131-229568134 |
| 58 | LYST | 1 | 0.99973698053656 | 3 | 11406 | 235938315-235938317 |
| 59 | RYR2 | 1 | 0.99953032742888 | 7 | 14904 | 237632449-237632452, 237632457, 237632463, 237632473 |
| 60 | NLRP3 | 1 | 0.99967855994857 | 1 | 3111 | 247588356 |
| 61 | GATA3 | 10 | 0.99325842696629 | 9 | 1335 | 8100735-8100742, 8115802 |
| 62 | CUBN | 10 | 0.99963208241354 | 4 | 10872 | 17142029-17142031, 17142087 |
| 63 | PTF1A | 10 | 0.77710233029382 | 220 | 987 | 23481516-23481522, 23481540-23481579, 23481622-23481637, 23481648-23481674, 23481701, 23481736-23481775, 23481818-23481821, 23481834-23481835, 23481848-23481852, 23481869-23481916, 23481929-23481932, 23481942-23481954, 23481956, 23482105-23482112, 23482146-23482148, 23482152 |
| 64 | PDSS1 | 10 | 0.99919871794872 | 1 | 1248 | 26986714 |
| 65 | MASTL | 10 | 0.99165718619644 | 22 | 2637 | 27450109-27450110, 27453995-27454007, 27459011, 27459127-27459132 |
| 66 | RET | 10 | 0.81405082212257 | 622 | 3345 | 43572707-43572779, 43595907-43595934, 43595968-43595971, 43596021-43596072, 43596082-43596087, 43596099-43596152, 43597924-43597925, 43597931, 43598033, 43598046-43598063, 43600406, 43600414-43600428, 43600434, 43600508-43600513, 43600524-43600526, 43600594-43600628, 43601844-43601888, 43601945-43601956, 43601975, 43604521, 43604656-43604678, 43606687, 43606697, 43606799, 43606845, 43606852, 43606856-43606867, 43606892-43606903, 43607579, 43609004-43609011, 43609089-43609091, 43609095-43609104, 43609108-43609111, 43609928-43609952, 43610003, 43610016-43610019, 43610042-43610047, 43610067, 43610131-43610145, 43610156, 43610160-43610161, 43610173-43610184, 43612060, 43612144-43612145, 43613855-43613856, 43613906-43613928, 43615008-43615044, 43615086-43615097, 43615125-43615151, 43615575, 43615600, 43619201, 43619209-43619217, 43619247-43619248 |
| 67 | ERCC6 | 10 | 0.99821508255243 | 8 | 4482 | 50740830-50740837 |
| 68 | CHAT | 10 | 0.98664886515354 | 30 | 2247 | 50822274, 50822343-50822348, 50822356-50822378 |
| 69 | EGR2 | 10 | 0.9979035639413 | 3 | 1431 | 64573487-64573489 |
| 70 | KIAA1279 | 10 | 0.9994640943194 | 1 | 1866 | 70765500 |
| 71 | NODAL | 10 | 0.99904214559387 | 1 | 1044 | 72201252 |
| 72 | CDH23 | 10 | 0.99015513126492 | 99 | 10056 | 73439236-73439237, 73442329, 73461861, 73462321, 73462414, 73464753-73464762, 73464778-73464780, 73464789, 73464792, 73464801-73464804, 73464875-73464887, 73468888-73468902, 73468905, 73468910, 73468944, 73468952-73468964, 73490237, 73490285-73490294, 73490326-73490338, 73498282, 73550953-73550955, 73550963, 73574845 |
| 73 | PSAP | 10 | 0.99936507936508 | 1 | 1575 | 73591622 |
| 74 | LDB3 | 10 | 0.97344322344322 | 58 | 2184 | 88466311-88466317, 88466388-88466389, 88469769-88469774, 88469791, 88469804-88469807, 88476094, 88476256-88476260, 88476273-88476276, 88476314-88476337, 88476498-88476500, 88476503 |
| 75 | BMPR1A | 10 | 0.99374609130707 | 10 | 1599 | 88683143-88683149, 88683474-88683476 |
| 76 | GLUD1 | 10 | 0.9200954084675 | 134 | 1677 | 88854159-88854160, 88854164-88854171, 88854240-88854250, 88854300-88854301, 88854348-88854354, 88854366-88854409, 88854423, 88854427-88854450, 88854460-88854461, 88854477-88854479, 88854485-88854486, 88854490-88854515, 88854522-88854523 |
| 77 | HPS1 | 10 | 0.9696106362773 | 64 | 2106 | 100177332-100177345, 100177367, 100177373, 100177376-100177389, 100177478, 100183410-100183425, 100185603, 100186993-100187006, 100189560, 100189572 |
| 78 | CPN1 | 10 | 0.98474945533769 | 21 | 1377 | 101802215-101802235 |
| 79 | HPS6 | 10 | 0.96649484536082 | 78 | 2328 | 103825275-103825296, 103825317-103825320, 103825375-103825387, 103825423-103825439, 103825442-103825448, 103825482-103825491, 103825575, 103825695-103825696, 103825732-103825733 |
| 80 | SUFU | 10 | 0.98969072164948 | 15 | 1455 | 104263970-104263984 |
| 81 | COL17A1 | 10 | 0.99643969737428 | 16 | 4494 | 105816818-105816821, 105816914-105816925 |
| 82 | HABP2 | 10 | 0.99881164587047 | 2 | 1683 | 115341866, 115341869 |
| 83 | BAG3 | 10 | 0.9849537037037 | 26 | 1728 | 121411336-121411342, 121411349-121411367 |
| 84 | HTRA1 | 10 | 0.76299376299376 | 342 | 1443 | 124221169-124221288, 124221308-124221410, 124221419-124221448, 124221462-124221482, 124221488, 124221490-124221496, 124221505-124221512, 124221524-124221526, 124221538-124221586 |
| 85 | UROS | 10 | 0.99498746867168 | 4 | 798 | 127477437-127477440 |
| 86 | HRAS | 11 | 0.49122807017544 | 290 | 570 | 532636, 532644, 532655-532676, 532700-532755, 533453-533457, 533463-533506, 533529, 533533-533536, 533555-533569, 533591-533612, 533766-533779, 533793-533835, 533847, 533856-533857, 533864-533866, 533875, 533929-533944, 534212-534221, 534286-534314 |
| 87 | TALDO1 | 11 | 0.79881656804734 | 204 | 1014 | 747485-747497, 747519-747578, 755944, 755972, 763353-763358, 763361-763362, 763384-763415, 763426-763454, 763855-763906, 763935, 764408-764414 |
| 88 | SLC25A22 | 11 | 0.11625514403292 | 859 | 972 | 791915-791950, 791969-791980, 791998-792068, 792142-792214, 792304-792329, 792335, 792345, 792356-792432, 792443-792450, 792553-792727, 792870-792988, 793529-793556, 793562-793574, 793584-793619, 794458-794488, 794494-794513, 794776-794841, 794846-794848, 794852, 794855, 794861-794901, 794987-795006 |
| 89 | PNPLA2 | 11 | 0.42640264026403 | 869 | 1515 | 819719-819905, 821655, 821675-821694, 821713-821719, 821750, 821803-821812, 821965, 822013-822020, 822434-822455, 822467-822502, 823527-823558, 823570, 823576-823587, 823694-823710, 823728-823750, 823786-823795, 823798, 823819-823855, 823998-824025, 824034, 824040, 824051-824082, 824094-824130, 824314-824362, 824376-824404, 824415-824420, 824524, 824536-824583, 824589-824598, 824603, 824615, 824628-824637, 824643-824652, 824657, 824661-824732, 824740-824748, 824751, 824756, 824759-824763, 824773-824862 |
| 90 | CTSD | 11 | 0.50847457627119 | 609 | 1239 | 1774733-1774738, 1774751-1774779, 1774801-1774900, 1775033-1775055, 1775082-1775131, 1775244, 1775247-1775285, 1775294-1775368, 1778557, 1778597-1778601, 1778710-1778749, 1778759-1778766, 1780199-1780247, 1780265-1780303, 1780771-1780775, 1780778, 1780798, 1780806-1780811, 1780855-1780869, 1782568-1782579, 1782651-1782668, 1782681-1782698, 1785022-1785089 |
| 91 | TNNI2 | 11 | 0.7959927140255 | 112 | 549 | 1861635-1861644, 1861648-1861674, 1861760, 1861774-1861806, 1861826-1861838, 1861870-1861876, 1862088-1862098, 1862261, 1862366-1862370, 1862372, 1862376-1862378 |
| 92 | TNNT3 | 11 | 0.15186615186615 | 659 | 777 | 1944107, 1944289-1944291, 1946329-1946333, 1946336-1946339, 1947925-1947939, 1950350-1950373, 1951040-1951058, 1953717-1953724, 1954951-1955067, 1955161-1955238, 1955562-1955675, 1955776-1955840, 1955853-1955885, 1956073-1956149, 1958193-1958233, 1959668-1959722 |
| 93 | H19 | 11 | 0.97105508870215 | 31 | 1071 | 2017360-2017366, 2017543-2017549, 2017813, 2017819, 2018045-2018056, 2018210, 2018216, 2018367 |
| 94 | IGF2 | 11 | 0.29254571026723 | 503 | 711 | 2154222-2154443, 2154747-2154824, 2154837-2154860, 2154867-2154895, 2156602, 2156611, 2156639-2156681, 2156694-2156695, 2156699, 2156708-2156719, 2161365-2161402, 2161421-2161431, 2161455-2161487, 2161519-2161526 |
| 95 | TH | 11 | 0.12507936507937 | 1378 | 1575 | 2185463-2185616, 2186462-2186595, 2186898-2186935, 2186948-2186993, 2187232-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188262, 2188665-2188715, 2189096-2189163, 2189321-2189405, 2189723-2189841, 2189850-2189851, 2189865-2189895, 2190880-2190892, 2190913-2190961, 2190971-2190989, 2190992-2191034, 2191040, 2191047-2191049, 2191053-2191054, 2191064-2191072, 2191080-2191081, 2191920-2191998, 2192929-2192932, 2192938-2192947, 2192965, 2192996-2193001 |
| 96 | KCNQ1 | 11 | 0.54111275233875 | 932 | 2031 | 2466329-2466714, 2591858-2591865, 2591901-2591931, 2592555-2592591, 2592599-2592613, 2592620, 2592629-2592633, 2593243-2593339, 2594076-2594168, 2594176-2594182, 2594201-2594216, 2604665-2604718, 2606460-2606478, 2606482, 2606494, 2606497-2606502, 2606516-2606537, 2608822-2608851, 2608885-2608922, 2609943-2609951, 2609979, 2609993, 2610029, 2610032-2610040, 2610058-2610060, 2610074-2610084, 2790126, 2790130, 2790133, 2799248, 2869085-2869110 |
| 97 | CDKN1C | 11 | 0.033648790746583 | 919 | 951 | 2905234-2905294, 2905307-2905309, 2905319-2905329, 2905341-2905364, 2905900-2906719 |
| 98 | HBD | 11 | 0.98423423423423 | 7 | 444 | 5255652-5255658 |
| 99 | SMPD1 | 11 | 0.99683544303797 | 6 | 1896 | 6411931-6411936 |
| 100 | ABCC8 | 11 | 0.99726085124315 | 13 | 4746 | 17482146, 17491689, 17491766-17491769, 17498176-17498182 |
| 101 | USH1C | 11 | 0.99925925925926 | 2 | 2700 | 17517129, 17517152 |
| 102 | WT1 | 11 | 0.98069498069498 | 30 | 1554 | 32456603, 32456640-32456648, 32456683-32456684, 32456731-32456736, 32456745-32456756 |
| 103 | SLC35C1 | 11 | 0.99431818181818 | 6 | 1056 | 45827421, 45827598-45827602 |
| 104 | PEX16 | 11 | 0.91258405379443 | 91 | 1041 | 45931694, 45931700, 45935741, 45935751-45935752, 45935928, 45935941, 45935947-45935950, 45935954-45935958, 45935983-45935985, 45936007, 45937367-45937378, 45939023-45939044, 45939281-45939285, 45939293-45939300, 45939313, 45939340-45939362 |
| 105 | F2 | 11 | 0.98929909042269 | 20 | 1869 | 46740851-46740853, 46747507-46747513, 46747567, 46747621-46747624, 46749695-46749698, 46749702 |
| 106 | MADD | 11 | 0.99979773462783 | 1 | 4944 | 47350633 |
| 107 | MYBPC3 | 11 | 0.9678431372549 | 123 | 3825 | 47353422-47353425, 47353623-47353627, 47353719, 47353722-47353726, 47354214, 47354849-47354854, 47355518, 47356705-47356710, 47358998, 47359002-47359003, 47371574-47371598, 47371652-47371653, 47372117-47372119, 47372124-47372130, 47372858-47372910, 47374198 |
| 108 | SLC39A13 | 11 | 0.96146953405018 | 43 | 1116 | 47431764-47431773, 47431826-47431828, 47435984-47435999, 47436389-47436402 |
| 109 | RAPSN | 11 | 0.94269572235674 | 71 | 1239 | 47460421-47460460, 47463199-47463206, 47463232-47463235, 47463248-47463251, 47463443, 47463446-47463452, 47469541, 47470357-47470362 |
| 110 | SLC22A12 | 11 | 0.75992779783394 | 399 | 1662 | 64359086-64359104, 64359137-64359183, 64359215-64359218, 64359286, 64359290, 64359295, 64359316-64359337, 64359349-64359390, 64360274, 64360277, 64360314, 64360323, 64360326-64360328, 64360878-64360880, 64360932-64360935, 64361029-64361031, 64361107-64361124, 64361173, 64361177-64361180, 64361184-64361185, 64361198-64361239, 64365992-64366041, 64366283-64366293, 64366298, 64366324, 64366339, 64367163-64367164, 64367173-64367175, 64367213-64367289, 64367294, 64367313-64367333, 64367357-64367358, 64368242-64368243, 64368246, 64368327-64368329, 64368332-64368333 |
| 111 | PYGM | 11 | 0.90984578884935 | 228 | 2529 | 64520574-64520580, 64521022-64521044, 64521108-64521122, 64521376-64521394, 64521415-64521427, 64521768, 64521774, 64521787, 64522165-64522181, 64522253, 64525268-64525295, 64525741-64525744, 64525942-64525949, 64526137-64526176, 64527128-64527156, 64527167-64527180, 64527347-64527353 |
| 112 | MEN1 | 11 | 0.98701298701299 | 24 | 1848 | 64572543-64572552, 64573164, 64575024-64575035, 64577579 |
| 113 | RNASEH2C | 11 | 0.9979797979798 | 1 | 495 | 65487579 |
| 114 | EFEMP2 | 11 | 0.94069069069069 | 79 | 1332 | 65635768-65635779, 65635884-65635887, 65636001-65636003, 65637359-65637364, 65639461-65639463, 65639751-65639783, 65639808-65639825 |
| 115 | CST6 | 11 | 0.96666666666667 | 15 | 450 | 65780408-65780422 |
| 116 | SPTBN2 | 11 | 0.97741530740276 | 162 | 7173 | 66468001-66468009, 66468287-66468292, 66468303-66468330, 66468469, 66468530-66468531, 66469082, 66472624-66472630, 66472711, 66472760-66472765, 66473296, 66475165-66475201, 66475248-66475250, 66475254-66475270, 66475619-66475622, 66475634-66475635, 66475641-66475655, 66475670-66475691 |
| 117 | PC | 11 | 0.95561210065027 | 157 | 3537 | 66616832, 66617173, 66617318-66617330, 66618234, 66618557-66618558, 66618569-66618571, 66619977, 66620056-66620072, 66620098, 66631320-66631337, 66633658-66633687, 66638612-66638622, 66638904-66638916, 66639158-66639177, 66639192-66639197, 66639269-66639285, 66639498, 66639573 |
| 118 | CABP4 | 11 | 0.79830917874396 | 167 | 828 | 67222895-67222928, 67222944-67222977, 67223066, 67223113, 67223116-67223122, 67223143, 67223170, 67223173, 67223199-67223246, 67223666-67223689, 67223804-67223807, 67225144-67225153, 67225907 |
| 119 | AIP | 11 | 0.38872104733132 | 607 | 993 | 67254542-67254555, 67254584-67254610, 67256749-67256776, 67256784-67256838, 67256857-67256880, 67256897-67256926, 67257509-67257611, 67257628-67257685, 67257787-67257825, 67257828-67257830, 67257837-67257896, 67257917-67257928, 67258259-67258269, 67258279, 67258282, 67258290-67258405, 67258415-67258423, 67258431-67258434, 67258453-67258464 |
| 120 | NDUFV1 | 11 | 0.9921146953405 | 11 | 1395 | 67374518-67374519, 67374532-67374536, 67376174-67376177 |
| 121 | NDUFS8 | 11 | 0.81200631911532 | 119 | 633 | 67799782-67799783, 67800418-67800427, 67800437, 67800453-67800462, 67800640-67800641, 67800644-67800694, 67800702-67800705, 67803743-67803745, 67803748, 67803751-67803753, 67803761, 67803825-67803848, 67804009-67804012, 67804057-67804059 |
| 122 | TCIRG1 | 11 | 0.80826313678299 | 478 | 2493 | 67808773, 67808810-67808831, 67810110-67810111, 67810134-67810151, 67810154-67810158, 67810172-67810215, 67810230-67810245, 67810263-67810305, 67810413-67810417, 67810473-67810481, 67810495-67810498, 67810870, 67810873-67810878, 67810936-67810964, 67811038-67811042, 67811301-67811314, 67811344-67811374, 67811599-67811606, 67811648-67811683, 67811714-67811718, 67811782-67811788, 67811809-67811811, 67812532-67812533, 67812541-67812554, 67814900-67814934, 67815011, 67815250, 67816548-67816577, 67816582, 67816614-67816630, 67816666-67816672, 67816760-67816761, 67817184, 67817209-67817238, 67817473-67817476, 67817627-67817629, 67817709-67817719, 67818080-67818081, 67818214-67818216 |
| 123 | LRP5 | 11 | 0.93110561056106 | 334 | 4848 | 68080183-68080252, 68125263, 68131215-68131222, 68131304-68131321, 68131371-68131377, 68131389-68131397, 68174139-68174142, 68174173-68174177, 68177382-68177384, 68192652, 68201237-68201266, 68201305-68201306, 68204386, 68204394-68204418, 68204428-68204431, 68204438-68204467, 68205964, 68207252-68207278, 68207329-68207332, 68207342, 68207346-68207359, 68207368-68207384, 68213905, 68213961-68213984, 68216333-68216343, 68216346-68216348, 68216478, 68216516, 68216519-68216529 |
| 124 | CPT1A | 11 | 0.99052540913006 | 22 | 2322 | 68552302, 68552318-68552334, 68552373, 68562367-68562369 |
| 125 | IGHMBP2 | 11 | 0.9728370221328 | 81 | 2982 | 68671421-68671424, 68671463-68671472, 68671477-68671492, 68673569-68673609, 68704328, 68704331-68704339 |
| 126 | DHCR7 | 11 | 0.98669467787115 | 19 | 1428 | 71146577, 71146593, 71146691, 71148913, 71149961-71149974, 71150129 |
| 127 | FOLR1 | 11 | 0.98966408268734 | 8 | 774 | 71906335-71906342 |
| 128 | MYO7A | 11 | 0.65809265944645 | 2273 | 6648 | 76841698, 76858867-76858912, 76858924-76858938, 76867113, 76867706-76867709, 76867718-76867740, 76867807, 76867974, 76867994, 76868006-76868021, 76868372, 76869328, 76870523, 76871278, 76873260, 76873344, 76873353-76873358, 76883794-76883874, 76883889-76883905, 76883913-76883918, 76883926-76883931, 76885802-76885818, 76885827-76885960, 76886418-76886481, 76886490-76886510, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892635, 76892997-76893200, 76893469-76893505, 76893516-76893645, 76894113-76894201, 76895633-76895685, 76895714-76895735, 76895759-76895760, 76900389-76900457, 76900489-76900490, 76900506-76900515, 76901080-76901118, 76901124-76901162, 76901173-76901184, 76901751, 76901754-76901766, 76901780-76901833, 76901843, 76901848-76901915, 76903096-76903164, 76903178, 76903192, 76903235-76903277, 76903288-76903310, 76905430, 76908526-76908531, 76908544-76908549, 76909563-76909596, 76910781-76910816, 76910846, 76912656, 76917172-76917180, 76918423-76918433, 76919497, 76922295 |
| 129 | ALG8 | 11 | 0.99177735610373 | 13 | 1581 | 77812219-77812231 |
| 130 | FZD4 | 11 | 0.98265179677819 | 28 | 1614 | 86666075-86666102 |
| 131 | TRPC6 | 11 | 0.99606580829757 | 11 | 2796 | 101454165-101454175 |
| 132 | ACAT1 | 11 | 0.99610591900312 | 5 | 1284 | 107992356, 107992359-107992362 |
| 133 | ATM | 11 | 0.99989096063679 | 1 | 9171 | 108114680 |
| 134 | SDHD | 11 | 0.98541666666667 | 7 | 480 | 111965633-111965639 |
| 135 | DRD2 | 11 | 0.9984984984985 | 2 | 1332 | 113281450-113281451 |
| 136 | APOA1 | 11 | 0.98134328358209 | 15 | 804 | 116706726-116706733, 116706794-116706800 |
| 137 | SLC37A4 | 11 | 0.99157303370787 | 9 | 1068 | 118895663-118895664, 118896036-118896039, 118897789, 118897793, 118898496 |
| 138 | HMBS | 11 | 0.97329650092081 | 29 | 1086 | 118955749-118955776, 118962234 |
| 139 | DPAGT1 | 11 | 0.99755501222494 | 3 | 1227 | 118967854-118967856 |
| 140 | TECTA | 11 | 0.99149265274555 | 55 | 6465 | 120989085-120989091, 120989133-120989135, 120989166-120989203, 120989246-120989247, 120989263, 120989301, 120989317, 120989322, 120989399 |
| 141 | WNK1 | 12 | 0.98097636033012 | 136 | 7149 | 862734-862746, 862792-862813, 862848-862851, 862893-862940, 862977-862984, 862989-862990, 863071-863075, 863149-863155, 863202-863207, 863261-863268, 863279-863280, 863284-863285, 863293-863296, 863300, 994808-994811 |
| 142 | CACNA2D4 | 12 | 0.98974809607499 | 35 | 3414 | 1906584-1906585, 1906623, 1906626-1906657 |
| 143 | CACNA1C | 12 | 0.99878067367779 | 8 | 6561 | 2794934-2794940, 2797823 |
| 144 | VWF | 12 | 0.99016820658612 | 83 | 8442 | 6125328-6125344, 6131926-6131932, 6131955-6131982, 6132003-6132033 |
| 145 | TNFRSF1A | 12 | 0.99926900584795 | 1 | 1368 | 6450980 |
| 146 | SCNN1A | 12 | 0.99222679469593 | 17 | 2187 | 6457062, 6457072-6457075, 6457078-6457086, 6457319, 6464578-6464579 |
| 147 | TPI1 | 12 | 0.97733333333333 | 17 | 750 | 6976731-6976738, 6976758, 6979471-6979478 |
| 148 | ATN1 | 12 | 0.98124825076966 | 67 | 3573 | 7045888-7045942, 7050643-7050654 |
| 149 | ABCC9 | 12 | 0.99935483870968 | 3 | 4650 | 22015986-22015988 |
| 150 | PKP2 | 12 | 0.98926014319809 | 27 | 2514 | 33049443-33049454, 33049526-33049538, 33049640-33049641 |
| 151 | LRRK2 | 12 | 0.99920886075949 | 6 | 7584 | 40646753-40646757, 40646762 |
| 152 | IRAK4 | 12 | 0.99566160520607 | 6 | 1383 | 44180247-44180251, 44180319 |
| 153 | MLL2 | 12 | 0.94576862886722 | 901 | 16614 | 49420768, 49424112-49424115, 49424214-49424220, 49425116-49425123, 49425262, 49425284-49425290, 49425426, 49425642, 49425655, 49425694, 49425800-49425825, 49425829-49425838, 49425841, 49425978-49425985, 49426159, 49426373-49426380, 49426507-49426509, 49426514-49426537, 49426564-49426566, 49426569-49426577, 49426611-49426613, 49426670-49426688, 49426708-49426791, 49426854-49426875, 49426908-49426948, 49426960-49426994, 49427024-49427045, 49427055-49427096, 49427122-49427124, 49427199-49427293, 49427311-49427335, 49427439, 49427665-49427667, 49428074-49428078, 49430996-49430999, 49431030, 49431240-49431241, 49431289-49431293, 49431296, 49431425, 49431491-49431543, 49431549-49431552, 49431558-49431568, 49431572, 49431589-49431618, 49431740-49431753, 49431810-49431829, 49431841-49431846, 49431891-49431928, 49432007-49432022, 49432114-49432130, 49432372-49432394, 49432404-49432423, 49432525-49432540, 49432596-49432636, 49433006-49433028, 49433113-49433116, 49433272-49433286, 49433373-49433377, 49434074-49434075, 49434079, 49434114-49434115 |
| 154 | DHH | 12 | 0.99748110831234 | 3 | 1191 | 49488041-49488043 |
| 155 | TUBA1A | 12 | 0.98026315789474 | 9 | 456 | 49522210-49522216, 49522264, 49522386 |
| 156 | ACVRL1 | 12 | 0.98941798941799 | 16 | 1512 | 52306930-52306936, 52307409-52307411, 52307414, 52308324-52308328 |
| 157 | KRT81 | 12 | 0.9729907773386 | 41 | 1518 | 52682999-52683005, 52683940, 52683946, 52684028-52684056, 52685111, 52685127-52685128 |
| 158 | KRT86 | 12 | 0.97604380561259 | 35 | 1461 | 52695822-52695824, 52696890-52696918, 52697008, 52697014, 52697952 |
| 159 | KRT6B | 12 | 0.9858407079646 | 24 | 1695 | 52844380-52844403 |
| 160 | AAAS | 12 | 0.9963436928702 | 6 | 1641 | 53702944, 53708539-53708543 |
| 161 | CYP27B1 | 12 | 0.99803536345776 | 3 | 1527 | 58160768, 58160771-58160772 |
| 162 | TSFM | 12 | 0.99897750511247 | 1 | 978 | 58176957 |
| 163 | GNS | 12 | 0.98432790837854 | 26 | 1659 | 65152889-65152895, 65152971-65152989 |
| 164 | CEP290 | 12 | 0.99798387096774 | 15 | 7440 | 88472940-88472942, 88481595-88481596, 88481601, 88481639, 88481643, 88519060-88519061, 88523495, 88534754-88534757 |
| 165 | SLC17A8 | 12 | 0.99830508474576 | 3 | 1770 | 100774533, 100774584-100774585 |
| 166 | UNG | 12 | 0.98938428874735 | 10 | 942 | 109535586-109535588, 109535598-109535602, 109547739, 109547764 |
| 167 | MVK | 12 | 0.99664147774979 | 4 | 1191 | 110034234-110034237 |
| 168 | TRPV4 | 12 | 0.94304281345566 | 149 | 2616 | 110221426-110221449, 110221467-110221475, 110221499-110221502, 110221554-110221583, 110222146, 110224547-110224570, 110226424-110226427, 110230576-110230593, 110230617-110230622, 110231381, 110231384, 110231797, 110232134-110232139, 110234504, 110236480-110236486, 110236561, 110238481, 110238505, 110240838, 110246140-110246143, 110252577, 110252581-110252583 |
| 169 | ATP2A2 | 12 | 0.97603068072867 | 75 | 3129 | 110777121, 110778495-110778515, 110778559-110778576, 110778609, 110780145, 110780153, 110781165-110781179, 110783171-110783175, 110783837, 110784020-110784026, 110784162-110784165 |
| 170 | ATXN2 | 12 | 0.85337392186707 | 578 | 3942 | 112036588-112036665, 112036679-112036800, 112036803, 112036825-112036834, 112036860, 112036863-112036874, 112036876-112036988, 112036994-112037092, 112037098-112037157, 112037205-112037286 |
| 171 | ACADS | 12 | 0.98466505246166 | 19 | 1239 | 121175216-121175226, 121176969, 121177099, 121177158-121177163 |
| 172 | HNF1A | 12 | 0.95253164556962 | 90 | 1896 | 121416620-121416622, 121416697-121416702, 121416707, 121416714, 121434095-121434098, 121434361, 121434375, 121435309-121435332, 121435342, 121435380-121435381, 121435402-121435403, 121437091-121437097, 121437295, 121437366, 121438885-121438904, 121438930-121438944 |
| 173 | HPD | 12 | 0.99915397631134 | 1 | 1182 | 122294281 |
| 174 | ATP6V0A2 | 12 | 0.99922209257098 | 2 | 2571 | 124242474-124242475 |
| 175 | PUS1 | 12 | 0.95249221183801 | 61 | 1284 | 132414268-132414284, 132414307, 132414310, 132414452-132414464, 132414478, 132414523, 132414530, 132414535, 132414539-132414552, 132414624-132414627, 132425992, 132426281-132426286 |
| 176 | B3GALTL | 13 | 0.99866399465598 | 2 | 1497 | 31774222-31774223 |
| 177 | BRCA2 | 13 | 0.99980501121186 | 2 | 10257 | 32911582, 32912431 |
| 178 | FREM2 | 13 | 0.98201892744479 | 171 | 9510 | 39261520-39261527, 39261564-39261568, 39261632-39261659, 39261673-39261675, 39261704-39261717, 39261789-39261791, 39261803, 39261824-39261868, 39261907, 39261938-39261951, 39261954, 39262057, 39262104, 39262108-39262130, 39262171-39262173, 39262180-39262186, 39262457, 39262463, 39262837, 39263062-39263070, 39264690 |
| 179 | SLC25A15 | 13 | 0.99227373068433 | 7 | 906 | 41382658-41382664 |
| 180 | RB1 | 13 | 0.99928238249013 | 2 | 2787 | 48878060-48878061 |
| 181 | RNASEH2B | 13 | 0.99680511182109 | 3 | 939 | 51484274-51484276 |
| 182 | ZIC2 | 13 | 0.79987492182614 | 320 | 1599 | 100634368-100634373, 100634392-100634394, 100634397-100634407, 100634411, 100634420, 100634447, 100634466-100634484, 100634511-100634520, 100634565-100634604, 100634686-100634720, 100634856, 100635008-100635013, 100635058-100635068, 100637643-100637663, 100637696-100637747, 100637756-100637767, 100637771, 100637790-100637862, 100637889-100637900, 100637933-100637936 |
| 183 | PCCA | 13 | 0.98125285779607 | 41 | 2187 | 100741402-100741410, 101101506-101101535, 101101558-101101559 |
| 184 | COL4A1 | 13 | 0.99061876247505 | 47 | 5010 | 110864261, 110959305-110959325, 110959341-110959344, 110959354-110959374 |
| 185 | F7 | 13 | 0.40224719101124 | 798 | 1335 | 113760162-113760175, 113760185-113760219, 113765004-113765019, 113765037-113765060, 113765071-113765105, 113765112-113765152, 113768161-113768164, 113768201-113768214, 113768267, 113769974-113770009, 113770014-113770035, 113770045-113770073, 113770082-113770114, 113771080-113771128, 113771136-113771179, 113771787-113771819, 113771827-113771859, 113771886, 113771889, 113772727-113772735, 113772744-113772766, 113772778-113772779, 113772796-113772797, 113772803-113772804, 113772813, 113772824-113772843, 113772850, 113772859, 113772877, 113772881-113772928, 113772942-113772984, 113773009-113773042, 113773079-113773104, 113773118-113773180, 113773188, 113773217, 113773252-113773280, 113773297-113773322 |
| 186 | F10 | 13 | 0.83231083844581 | 246 | 1467 | 113777170-113777233, 113798223, 113798235, 113798255-113798256, 113798377-113798379, 113798386-113798388, 113803245-113803257, 113803323, 113803377-113803413, 113803425, 113803529-113803609, 113803659-113803665, 113803746-113803753, 113803808-113803831 |
| 187 | GRK1 | 13 | 0.91371158392435 | 146 | 1692 | 114321727, 114321805-114321811, 114321942-114321950, 114321991-114321997, 114322136-114322137, 114322233-114322234, 114322325, 114322358-114322368, 114324022-114324027, 114324107-114324118, 114325868-114325914, 114325924-114325938, 114325950-114325958, 114325969, 114426085-114426093, 114426117-114426119, 114435919-114435921, 114435948 |
| 188 | TEP1 | 14 | 0.99289700659564 | 56 | 7884 | 20841272, 20844011-20844012, 20844015-20844025, 20847202, 20850468-20850471, 20851748-20851758, 20851762-20851767, 20851772, 20851778-20851789, 20854704-20854709, 20856139 |
| 189 | SLC7A7 | 14 | 0.99479166666667 | 8 | 1536 | 23282123-23282130 |
| 190 | PABPN1 | 14 | 0.99457111834962 | 5 | 921 | 23790686-23790689, 23790999 |
| 191 | MYH6 | 14 | 0.99948453608247 | 3 | 5820 | 23869584-23869586 |
| 192 | MYH7 | 14 | 0.99931129476584 | 4 | 5808 | 23886197-23886200 |
| 193 | NRL | 14 | 0.99719887955182 | 2 | 714 | 24550607, 24550645 |
| 194 | PCK2 | 14 | 0.99895995839834 | 2 | 1923 | 24572437-24572438 |
| 195 | TGM1 | 14 | 0.98899755501222 | 27 | 2454 | 24718614-24718618, 24724297-24724302, 24724371-24724384, 24727581-24727582 |
| 196 | FOXG1 | 14 | 0.88843537414966 | 164 | 1470 | 29236662-29236679, 29236688-29236710, 29236718, 29236723, 29236737-29236762, 29236774, 29236785-29236802, 29236817-29236820, 29236838, 29236842-29236876, 29236880-29236907, 29236931, 29236934-29236939, 29236942 |
| 197 | NKX2-1 | 14 | 0.84577114427861 | 186 | 1206 | 36986579-36986621, 36986660-36986689, 36986715, 36986743-36986747, 36986820-36986846, 36986870-36986916, 36987127, 36988361-36988365, 36988372-36988380, 36988391-36988408 |
| 198 | FANCM | 14 | 0.99625833740036 | 23 | 6147 | 45623968-45623990 |
| 199 | MGAT2 | 14 | 0.99404761904762 | 8 | 1344 | 50088122-50088129 |
| 200 | C14orf104 | 14 | 0.96340493237868 | 92 | 2514 | 50100603-50100606, 50100683, 50100751, 50100878, 50100881, 50100939-50100951, 50100976-50100998, 50101041-50101051, 50101090-50101095, 50101156-50101158, 50101242-50101264, 50101405, 50101587, 50101615-50101617 |
| 201 | L2HGDH | 14 | 0.98706896551724 | 18 | 1392 | 50713776-50713793 |
| 202 | GCH1 | 14 | 0.96547144754316 | 26 | 753 | 55369129-55369142, 55369230-55369241 |
| 203 | ZFYVE26 | 14 | 0.99737532808399 | 20 | 7620 | 68241745-68241763, 68251811 |
| 204 | VSX2 | 14 | 0.96408839779006 | 39 | 1086 | 74706408-74706430, 74706476-74706478, 74706592-74706604 |
| 205 | EIF2B2 | 14 | 0.98390151515152 | 17 | 1056 | 75471503-75471519 |
| 206 | ESRRB | 14 | 0.98100851342502 | 29 | 1527 | 76957791-76957793, 76964676-76964701 |
| 207 | POMT2 | 14 | 0.96493564136707 | 79 | 2253 | 77745193, 77786791-77786794, 77786821, 77786839-77786849, 77786886, 77786904, 77786923-77786936, 77786946-77786984, 77787001-77787007 |
| 208 | VIPAR | 14 | 0.99595141700405 | 6 | 1482 | 77917599-77917601, 77917652-77917654 |
| 209 | ATXN3 | 14 | 0.99723756906077 | 3 | 1086 | 92537355-92537357 |
| 210 | AMN | 14 | 0.15051395007342 | 1157 | 1362 | 103389029-103389068, 103390048-103390055, 103390075-103390104, 103390138-103390160, 103390272-103390308, 103394763-103394785, 103394805-103394850, 103395095-103395099, 103395108-103395112, 103395134-103395227, 103395238-103395247, 103395258-103395312, 103395458-103395467, 103395477-103395595, 103395765-103395809, 103395827-103395857, 103395866-103395871, 103395992-103396007, 103396018-103396040, 103396063-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017 |
| 211 | INF2 | 14 | 0.2288 | 2892 | 3750 | 105167703-105167721, 105167724-105167782, 105167795-105167798, 105167803, 105167807-105167828, 105167845, 105167857-105168023, 105168042, 105168046-105168093, 105169442-105169473, 105169496-105169499, 105169513, 105169516-105169534, 105169546, 105169636-105169663, 105169694-105169777, 105169785-105169791, 105170253-105170276, 105170284-105170286, 105172372-105172496, 105173276-105173355, 105173367-105173388, 105173590-105173595, 105173620-105173664, 105173675-105173676, 105173688-105173835, 105173844-105174339, 105174773-105174774, 105174784-105174858, 105174869-105174924, 105175008, 105175021, 105175050-105175069, 105175618-105175627, 105175653-105175695, 105175957-105176041, 105176425-105176488, 105176502-105176525, 105177274-105177285, 105177295-105177296, 105177313-105177344, 105177416-105177445, 105177457-105177523, 105177966-105177980, 105178002-105178036, 105178775-105178890, 105179165-105179194, 105179216-105179250, 105179256-105179292, 105179301-105179329, 105179552-105179564, 105179586-105179646, 105179782-105179853, 105179866-105179867, 105179880-105179903, 105179931-105179943, 105180565, 105180575, 105180581-105180587, 105180598-105180631, 105180635-105180638, 105180663-105180685, 105180706, 105180716-105180723, 105180734-105180781, 105180785, 105180822, 105180847-105180878, 105180890, 105180902-105180923, 105180945-105180959, 105180965-105180997, 105181003-105181036, 105181070, 105181077-105181193, 105181621-105181673 |
| 212 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 23086234-23086411 |
| 213 | UBE3A | 15 | 0.98439878234399 | 41 | 2628 | 25616251-25616257, 25616834-25616867 |
| 214 | CHST14 | 15 | 0.93280282935455 | 76 | 1131 | 40763465-40763510, 40763523-40763542, 40763569-40763578 |
| 215 | CDAN1 | 15 | 0.99918566775244 | 3 | 3684 | 43028667, 43029283-43029284 |
| 216 | STRC | 15 | 0.99924924924925 | 4 | 5328 | 43896251, 43910867-43910869 |
| 217 | SPG11 | 15 | 0.99986361156574 | 1 | 7332 | 44914515 |
| 218 | DUOX2 | 15 | 0.99720249623413 | 13 | 4647 | 45391619-45391620, 45402892, 45403618-45403627 |
| 219 | GATM | 15 | 0.99292452830189 | 9 | 1272 | 45670611-45670619 |
| 220 | CLN6 | 15 | 0.99893162393162 | 1 | 936 | 68500490 |
| 221 | HCN4 | 15 | 0.76744186046512 | 840 | 3612 | 73614831-73614837, 73614875-73614900, 73614924-73614927, 73614986, 73615026, 73615040-73615082, 73615113-73615140, 73615164-73615173, 73615219-73615261, 73615335, 73615344, 73615390-73615427, 73615456-73615467, 73615538, 73615571-73615613, 73615874-73615875, 73615988-73615993, 73616138-73616157, 73616201-73616205, 73624554, 73659828-73659838, 73659852, 73659867-73659870, 73659897-73659917, 73659986-73659989, 73659991-73660012, 73660027-73660263, 73660318-73660342, 73660346-73660347, 73660358-73660446, 73660472-73660482, 73660485-73660489, 73660497-73660611 |
| 222 | PSTPIP1 | 15 | 0.11270983213429 | 1110 | 1251 | 77310500-77310501, 77310507-77310508, 77310512-77310517, 77310526-77310589, 77310798, 77310826-77310872, 77317625-77317636, 77317639, 77317653-77317659, 77317839-77317887, 77317893-77317926, 77320193-77320255, 77320895-77320953, 77320960-77320993, 77321870-77321915, 77322843-77322916, 77323521-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517 |
| 223 | RPS17 | 15 | 0.99754901960784 | 1 | 408 | 83207643 |
| 224 | POLG | 15 | 0.96801075268817 | 119 | 3720 | 89871701-89871748, 89872035, 89872041-89872062, 89872307-89872308, 89876813-89876858 |
| 225 | MESP2 | 15 | 0.65829145728643 | 408 | 1194 | 90319599-90319606, 90319632-90319641, 90319659-90319661, 90319668-90319676, 90319679, 90319703-90319709, 90319757-90319805, 90319819-90319843, 90319859-90319894, 90319900-90319908, 90319919-90319943, 90319974-90319975, 90319979, 90319982-90319983, 90320008-90320036, 90320064-90320069, 90320078-90320164, 90320170-90320176, 90320208-90320218, 90320247, 90320259-90320267, 90320368-90320381, 90320491-90320494, 90320505, 90321376, 90321410-90321412, 90321455-90321463, 90321491-90321529 |
| 226 | BLM | 15 | 0.98166431593794 | 78 | 4254 | 91303447-91303450, 91337419, 91337438-91337473, 91337536, 91337539-91337558, 91337572-91337587 |
| 227 | IGF1R | 15 | 0.99074074074074 | 38 | 4104 | 99192819-99192831, 99192871-99192895 |
| 228 | HBZ | 16 | 0.4009324009324 | 257 | 429 | 202982-202997, 203000-203002, 203933-203982, 203993-203997, 204012-204095, 204271-204364, 204387-204391 |
| 229 | HBA2 | 16 | 0.43589743589744 | 242 | 429 | 222912-222934, 222959-222993, 223005-223006, 223155-223179, 223198-223261, 223267-223328, 223471-223472, 223476, 223489, 223557-223583 |
| 230 | GNPTG | 16 | 0.77995642701525 | 202 | 918 | 1401967-1402018, 1402103-1402145, 1402240-1402307, 1411933, 1412039-1412040, 1412246-1412274, 1412298-1412300, 1412304, 1412471, 1412477, 1412499 |
| 231 | CLCN7 | 16 | 0.33457402812242 | 1609 | 2418 | 1496632-1496718, 1497007-1497053, 1497059-1497087, 1497393-1497569, 1497656-1497715, 1498356-1498388, 1498398-1498432, 1498441-1498482, 1498682-1498767, 1498967-1499094, 1499277-1499328, 1500498-1500576, 1500585-1500667, 1501624-1501641, 1501647-1501717, 1502760-1502796, 1502812, 1502818-1502894, 1503835-1503895, 1504412-1504434, 1504444-1504466, 1505135-1505222, 1505246, 1505740-1505782, 1506134, 1506136-1506137, 1506140, 1506151, 1506170-1506207, 1507255-1507261, 1507307-1507338, 1507695-1507703, 1507753, 1509119-1509123, 1509174-1509188, 1510503-1510506, 1510933, 1511635, 1524838, 1524850-1524853, 1524860-1524944, 1524956-1524975 |
| 232 | IGFALS | 16 | 0.03416149068323 | 1866 | 1932 | 1840601-1840676, 1840693-1840709, 1840724-1840796, 1840801-1840832, 1840838-1841644, 1841656-1841663, 1841671-1841937, 1841943-1842516, 1843642-1843653 |
| 233 | GFER | 16 | 0.24919093851133 | 464 | 618 | 2034220-2034477, 2034748-2034757, 2034764-2034839, 2034860-2034903, 2035875-2035890, 2035907, 2035918-2035945, 2035955-2035962, 2035998-2036000, 2036002-2036021 |
| 234 | TSC2 | 16 | 0.20409292035398 | 4317 | 5424 | 2098617-2098687, 2098714-2098754, 2100401, 2100413-2100453, 2100466-2100485, 2103343-2103352, 2103390-2103396, 2103410, 2103415-2103442, 2104352, 2104407, 2104411, 2105480-2105482, 2106225, 2106648, 2106658, 2106679, 2106724, 2108748-2108749, 2108766-2108814, 2108824-2108845, 2108866-2108874, 2110671-2110682, 2110719-2110727, 2110730-2110741, 2110775-2110814, 2111900-2111941, 2111979-2111984, 2112498-2112525, 2112543-2112565, 2112580-2112589, 2112592-2112593, 2112980-2113054, 2114273-2114276, 2114304-2114340, 2114346-2114356, 2114373-2114428, 2115520-2115543, 2115571-2115636, 2120457-2120579, 2121511-2121617, 2121788-2121804, 2121832-2121935, 2122242-2122243, 2122250-2122364, 2122851-2122855, 2122867-2122869, 2122886-2122900, 2122925-2122981, 2124201-2124390, 2125800-2125817, 2125861-2125888, 2126069-2126074, 2126087-2126128, 2126139-2126171, 2126492-2126586, 2127599-2127727, 2129033-2129197, 2129277-2129429, 2129558-2129670, 2130166-2130378, 2131596-2131799, 2132437-2132505, 2133696-2133817, 2134229-2134716, 2134952-2135027, 2135231-2135323, 2136194-2136380, 2136733-2136872, 2137864-2137942, 2138049-2138140, 2138228-2138326, 2138447-2138611 |
| 235 | PKD1 | 16 | 0.00061957868649321 | 12904 | 12912 | 2139728-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142593, 2142955-2143094, 2143545-2143739, 2143812-2144014, 2144093-2144209, 2147149-2147242, 2147320-2147402, 2147409-2147504, 2147729-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168846, 2169115-2169186, 2169308-2169379, 2185476-2185690 |
| 236 | ABCA3 | 16 | 0.84633431085044 | 786 | 5115 | 2327670, 2327898, 2327901, 2327974, 2328061-2328070, 2328399-2328405, 2328980-2328986, 2329016-2329059, 2329099-2329103, 2329108, 2329113, 2331037, 2331049, 2331055, 2331074-2331100, 2331139-2331141, 2331166-2331191, 2331200, 2331206, 2331214-2331216, 2331399-2331417, 2331440, 2331443, 2331495-2331510, 2333187-2333254, 2333293-2333341, 2333350-2333359, 2334311-2334313, 2334324, 2334333-2334363, 2334780-2334787, 2334856-2334862, 2334980, 2334985-2334986, 2334998-2334999, 2335443-2335445, 2335448, 2335589, 2336707, 2336755-2336757, 2338039-2338044, 2338073-2338074, 2338090, 2338173, 2338319-2338322, 2339459-2339480, 2339537, 2339550, 2339553-2339554, 2339562, 2339566, 2339595, 2339600-2339602, 2339605-2339607, 2342141-2342144, 2342148, 2342224-2342229, 2342233-2342234, 2345637-2345661, 2347346-2347369, 2347400, 2347404-2347440, 2347498-2347539, 2347767-2347771, 2347825-2347829, 2347854-2347922, 2348397-2348419, 2348528, 2349416-2349463, 2349470-2349502, 2350006-2350033, 2350070, 2354063-2354065, 2354099-2354101, 2354105, 2358618, 2369656, 2369662, 2369820 |
| 237 | MEFV | 16 | 0.98337595907928 | 39 | 2346 | 3304525-3304532, 3304673-3304703 |
| 238 | SLX4 | 16 | 0.97929155313352 | 114 | 5505 | 3632382-3632384, 3632490, 3632524-3632537, 3632605-3632610, 3633284, 3633294, 3633309, 3633314, 3634837-3634872, 3639333, 3639376, 3639454-3639458, 3639534, 3639771-3639780, 3641283, 3642852-3642866, 3644502, 3644506, 3644582-3644584, 3646167-3646169, 3646288-3646292, 3647547, 3647563, 3648000 |
| 239 | CREBBP | 16 | 0.96097694091963 | 286 | 7329 | 3777763, 3777768-3777779, 3777784-3777789, 3778168-3778176, 3778286-3778320, 3778403-3778464, 3778556-3778583, 3778648-3778688, 3778789-3778820, 3778843-3778848, 3778980-3779012, 3779184-3779193, 3779198, 3779204, 3779700-3779704, 3929914-3929917 |
| 240 | GLIS2 | 16 | 0.064761904761905 | 1473 | 1575 | 4382293-4382303, 4382311-4382314, 4382324-4382350, 4382366-4382428, 4382445-4382453, 4383348-4383520, 4384802-4384829, 4384852-4384978, 4385061-4385194, 4385276-4385319, 4385328-4385394, 4386733-4386780, 4386788-4387525 |
| 241 | ALG1 | 16 | 0.77491039426523 | 314 | 1395 | 5128758-5128771, 5128817, 5128833-5128879, 5129065-5129095, 5129798-5129800, 5130956-5131057, 5133683-5133702, 5134751-5134846 |
| 242 | ABCC6 | 16 | 0.78102836879433 | 988 | 4512 | 16244041-16244046, 16253339-16253347, 16253356, 16253400, 16255303-16255304, 16255315-16255320, 16255333-16255334, 16255349-16255357, 16255364, 16255368-16255371, 16255408, 16256865-16256873, 16256878-16256881, 16256898-16256941, 16256947-16257049, 16259480, 16259486-16259710, 16259716-16259722, 16259731-16259790, 16263503-16263524, 16263550-16263576, 16263582-16263710, 16267141-16267261, 16269768-16269823, 16269832-16269843, 16271357, 16271363-16271382, 16271400, 16271408-16271424, 16271427-16271436, 16271441-16271468, 16272751-16272754, 16276300, 16276721, 16276738-16276739, 16276748, 16276752-16276754, 16276762, 16281007, 16281010, 16291881, 16291953, 16291969, 16313411-16313415, 16313512, 16315655, 16317268-16317291 |
| 243 | UMOD | 16 | 0.99895995839834 | 2 | 1923 | 20359869-20359870 |
| 244 | SCNN1B | 16 | 0.99583983359334 | 8 | 1923 | 23391937-23391944 |
| 245 | COG7 | 16 | 0.99524427150886 | 11 | 2313 | 23403702-23403705, 23403754, 23403798, 23409369, 23436138-23436141 |
| 246 | CLN3 | 16 | 0.9916476841306 | 11 | 1317 | 28497711, 28498858, 28498862, 28498991, 28499932-28499938 |
| 247 | TUFM | 16 | 0.98538011695906 | 20 | 1368 | 28857566-28857585 |
| 248 | ATP2A1 | 16 | 0.9707252162342 | 88 | 3006 | 28895896-28895905, 28895974, 28898593, 28898860-28898907, 28900156-28900163, 28900261-28900274, 28912156-28912158, 28915501-28915502, 28915509 |
| 249 | PHKG2 | 16 | 0.95167895167895 | 59 | 1221 | 30760150-30760187, 30764786-30764787, 30768360-30768378 |
| 250 | FUS | 16 | 0.99936748893106 | 1 | 1581 | 31196437 |
| 251 | SLC5A2 | 16 | 0.94551758296186 | 110 | 2019 | 31494529-31494531, 31494537-31494539, 31495997-31495998, 31498914, 31499430, 31499433-31499440, 31499710-31499746, 31500008-31500011, 31500044, 31500057-31500080, 31500201-31500205, 31500275, 31500285-31500295, 31500525-31500533 |
| 252 | NOD2 | 16 | 0.98975344220301 | 32 | 3123 | 50733448-50733454, 50733737, 50733764-50733767, 50745054-50745068, 50745882-50745883, 50745897-50745899 |
| 253 | SALL1 | 16 | 0.99924528301887 | 3 | 3975 | 51175656-51175658 |
| 254 | RPGRIP1L | 16 | 0.99620060790274 | 15 | 3948 | 53672237-53672247, 53691367-53691368, 53691442-53691443 |
| 255 | SLC12A3 | 16 | 0.98318784351762 | 52 | 3093 | 56899218-56899224, 56904616-56904622, 56920908, 56921847, 56921860-56921864, 56921872-56921902 |
| 256 | COQ9 | 16 | 0.99791013584117 | 2 | 957 | 57481459-57481460 |
| 257 | GPR56 | 16 | 0.99709302325581 | 6 | 2064 | 57684243, 57687904-57687905, 57695675, 57695752, 57695760 |
| 258 | HSD11B2 | 16 | 0.76518883415435 | 286 | 1218 | 67465152-67465275, 67465281-67465344, 67465352, 67465355-67465373, 67465376, 67465379-67465388, 67465391-67465412, 67469966-67470008, 67470181-67470182 |
| 259 | LCAT | 16 | 0.92063492063492 | 105 | 1323 | 67973856-67973861, 67973922-67973929, 67973944, 67973953, 67973985, 67974030-67974038, 67974097-67974108, 67974178-67974214, 67976426-67976433, 67976456-67976459, 67976967-67976983, 67977002 |
| 260 | CDH3 | 16 | 0.9433734939759 | 141 | 2490 | 68716242-68716244, 68716274, 68716301, 68718566, 68718570-68718572, 68718578, 68718584, 68718604, 68718694, 68719153-68719175, 68719237-68719243, 68721637, 68725677, 68725696-68725729, 68725736-68725795, 68725828-68725829 |
| 261 | CDH1 | 16 | 0.9992449981125 | 2 | 2649 | 68771343, 68771352 |
| 262 | CIRH1A | 16 | 0.99029597282872 | 20 | 2061 | 69173787-69173794, 69177276-69177287 |
| 263 | COG8 | 16 | 0.85535617183252 | 266 | 1839 | 69364742-69364771, 69364793-69364799, 69364807-69364866, 69364889, 69364892-69364913, 69364962-69364965, 69364992-69364998, 69366736-69366737, 69368458-69368460, 69368594-69368600, 69370505, 69370508-69370509, 69373133-69373161, 69373208-69373238, 69373255-69373283, 69373294-69373319, 69373390-69373393, 69373425 |
| 264 | HP | 16 | 0.97051597051597 | 36 | 1221 | 72092155-72092179, 72092231-72092237, 72093017, 72093029-72093030, 72093033 |
| 265 | GCSH | 16 | 0.95210727969349 | 25 | 522 | 81129749-81129752, 81129797-81129804, 81129822-81129828, 81129869-81129874 |
| 266 | GAN | 16 | 0.99108138238573 | 16 | 1794 | 81348752-81348767 |
| 267 | MLYCD | 16 | 0.80836707152497 | 284 | 1482 | 83932790-83932849, 83932888-83932895, 83932907-83932922, 83932946-83932979, 83932986-83933034, 83933046-83933083, 83933089-83933096, 83933140-83933156, 83933179-83933227, 83933266-83933268, 83941752-83941753 |
| 268 | LRRC50 | 16 | 0.95638200183655 | 95 | 2178 | 84199446-84199450, 84199477-84199483, 84203465-84203471, 84203706-84203712, 84203848, 84203868, 84205949-84205964, 84208293-84208295, 84208299, 84209713-84209720, 84209779, 84209793, 84209815, 84209859-84209894 |
| 269 | FOXF1 | 16 | 0.92017543859649 | 91 | 1140 | 86544176-86544187, 86544223-86544231, 86544249, 86544269-86544272, 86544641-86544642, 86544699-86544701, 86544854-86544877, 86544922-86544941, 86545022-86545032, 86545116-86545120 |
| 270 | FOXC2 | 16 | 0.62151394422311 | 570 | 1506 | 86601013-86601053, 86601154-86601157, 86601309-86601329, 86601403-86601451, 86601500-86601514, 86601536-86601565, 86601602-86601673, 86601718-86601761, 86601777, 86601782-86601791, 86601804-86601846, 86601855-86601893, 86601900-86601913, 86601983-86602025, 86602034-86602040, 86602053-86602093, 86602134, 86602153, 86602167-86602175, 86602184-86602194, 86602200-86602206, 86602252-86602279, 86602301-86602329, 86602383, 86602435-86602443 |
| 271 | JPH3 | 16 | 0.60258121940365 | 893 | 2247 | 87678035-87678054, 87678321-87678340, 87678596-87678602, 87717757-87717820, 87717843-87717872, 87723257-87723264, 87723270-87723703, 87723712-87723797, 87723816-87723829, 87723831-87723841, 87723853-87723897, 87723914, 87723920-87723921, 87723925-87723960, 87723963-87724038, 87724096-87724132, 87730255, 87730258 |
| 272 | CYBA | 16 | 0.2108843537415 | 464 | 588 | 88709761-88709899, 88709914-88709979, 88712524-88712563, 88712571-88712595, 88713175-88713176, 88713184, 88713201-88713246, 88713513-88713574, 88713580-88713583, 88714453-88714464, 88714492-88714518, 88717370-88717387, 88717390, 88717401-88717421 |
| 273 | APRT | 16 | 0.24125230202578 | 412 | 543 | 88876106-88876130, 88876138, 88876142, 88876157-88876179, 88876201-88876202, 88876208-88876248, 88876495-88876496, 88876502-88876556, 88876834-88876838, 88876848-88876850, 88876861-88876875, 88876899-88876946, 88876958-88876961, 88877958-88878064, 88878228-88878307 |
| 274 | GALNS | 16 | 0.67431485022307 | 511 | 1569 | 88880892-88880927, 88884415-88884429, 88884444-88884456, 88884466, 88884472-88884520, 88884526, 88888997-88889007, 88889033-88889069, 88889078-88889118, 88891175-88891185, 88891201-88891202, 88891223-88891257, 88893174, 88893204, 88901638, 88901664, 88902133-88902154, 88902199, 88904042, 88904080, 88907421-88907467, 88907484-88907502, 88908359-88908379, 88909114-88909139, 88909200, 88909213, 88909217, 88923166-88923192, 88923199-88923285 |
| 275 | SPG7 | 16 | 0.95561139028476 | 106 | 2388 | 89574826, 89574833-89574835, 89574863-89574864, 89574987, 89574990, 89613120-89613157, 89614428-89614434, 89614520-89614521, 89616991, 89616995, 89619393, 89620292, 89620353-89620359, 89623311, 89623360-89623361, 89623465-89623501 |
| 276 | FANCA | 16 | 0.92193223443223 | 341 | 4368 | 89805025-89805073, 89805350, 89811449-89811454, 89815150-89815153, 89836363-89836373, 89836574-89836583, 89837010-89837032, 89838099-89838108, 89839752-89839758, 89839789-89839792, 89842204-89842215, 89877120-89877129, 89877179-89877186, 89877351-89877357, 89877374, 89877386-89877401, 89877405-89877408, 89880928-89880964, 89882303-89882344, 89882945-89883023 |
| 277 | TUBB3 | 16 | 0.70657797487066 | 397 | 1353 | 89989810-89989866, 89998979-89998982, 89998987-89999011, 89999041-89999046, 89999066, 89999074-89999087, 90001137-90001157, 90001294-90001314, 90001389-90001404, 90001417, 90001423-90001427, 90001439-90001440, 90001451-90001452, 90001465, 90001526, 90001538, 90001562, 90001565-90001609, 90001633, 90001665-90001671, 90001681, 90001687-90001688, 90001732-90001777, 90001790-90001823, 90001871-90001879, 90001913, 90001930, 90001962-90002014, 90002071, 90002132-90002147, 90002205 |
| 278 | PRPF8 | 17 | 0.99215182648402 | 55 | 7008 | 1557120-1557142, 1580353-1580364, 1587846-1587865 |
| 279 | CTNS | 17 | 0.53034081463009 | 565 | 1203 | 3550763-3550764, 3550768-3550787, 3550801, 3550815-3550816, 3552141, 3552179-3552193, 3552224-3552225, 3558350, 3558353-3558369, 3558536-3558551, 3558636, 3558642-3558643, 3559781-3559880, 3559975-3560023, 3560042-3560089, 3561299-3561382, 3561396, 3561429-3561434, 3561457-3561469, 3563152-3563180, 3563205-3563223, 3563240-3563269, 3563530-3563556, 3563576-3563630, 3563911-3563930, 3563952-3563953, 3563957, 3563966 |
| 280 | CHRNE | 17 | 0.94062078272605 | 88 | 1482 | 4802348-4802356, 4802571-4802586, 4802630, 4802763-4802769, 4804123-4804130, 4804423-4804457, 4805778-4805789 |
| 281 | GP1BA | 17 | 0.99895833333333 | 2 | 1920 | 4837818-4837819 |
| 282 | AIPL1 | 17 | 0.9965367965368 | 4 | 1155 | 6329996-6329998, 6330201 |
| 283 | PITPNM3 | 17 | 0.86735042735043 | 388 | 2925 | 6358704-6358708, 6358735-6358764, 6358774-6358800, 6358829-6358848, 6358953-6358956, 6367581, 6373701-6373726, 6374497-6374527, 6374570-6374595, 6374666, 6376004-6376023, 6376068-6376087, 6376113-6376121, 6376132-6376147, 6377760, 6377763, 6377802-6377817, 6377869-6377888, 6380439-6380447, 6381317-6381328, 6381348-6381385, 6381409-6381417, 6381867, 6382014-6382036, 6459705-6459726 |
| 284 | ACADVL | 17 | 0.99644308943089 | 7 | 1968 | 7123304-7123305, 7123485, 7123498, 7124952-7124953, 7127531 |
| 285 | CHRNB1 | 17 | 0.99402390438247 | 9 | 1506 | 7348466-7348468, 7348472, 7348494-7348496, 7348642, 7350167 |
| 286 | GUCY2D | 17 | 0.9320652173913 | 225 | 3312 | 7906373-7906394, 7906452, 7906458-7906459, 7906469-7906483, 7906566-7906582, 7906613-7906619, 7906659-7906669, 7906697-7906723, 7906766-7906773, 7906784-7906831, 7906838-7906873, 7906895-7906902, 7906943-7906950, 7907008-7907014, 7907173, 7907189, 7907194-7907196, 7907207-7907209 |
| 287 | ALOX12B | 17 | 0.98005698005698 | 42 | 2106 | 7979013-7979027, 7982741-7982757, 7983125, 7983129-7983133, 7984227, 7984489-7984491 |
| 288 | HES7 | 17 | 0.98967551622419 | 7 | 678 | 8025010-8025016 |
| 289 | MYH2 | 17 | 0.9996567112942 | 2 | 5826 | 10446477-10446478 |
| 290 | MYH3 | 17 | 0.99021123132406 | 57 | 5823 | 10544617-10544622, 10549111, 10553718, 10554829, 10555803-10555846, 10555880, 10558327-10558329 |
| 291 | ELAC2 | 17 | 0.99798468359532 | 5 | 2481 | 12898178-12898182 |
| 292 | TNFRSF13B | 17 | 0.98639455782313 | 12 | 882 | 16843782-16843793 |
| 293 | FLCN | 17 | 0.90804597701149 | 160 | 1740 | 17116971, 17116980, 17117055-17117061, 17117112-17117124, 17117131-17117133, 17124851-17124863, 17127265-17127291, 17127319-17127358, 17127388, 17131215-17131257, 17131349-17131352, 17131428-17131434 |
| 294 | RAI1 | 17 | 0.93060653731865 | 397 | 5721 | 17697244-17697245, 17697595-17697600, 17697607-17697638, 17697722-17697736, 17697798-17697818, 17697995-17697999, 17698044-17698054, 17698160-17698163, 17698191-17698200, 17698226-17698234, 17698239-17698250, 17698252, 17698264, 17698267, 17698312, 17698469, 17698635, 17698796-17698797, 17698808-17698811, 17698824-17698841, 17698860-17698878, 17699190, 17699193-17699194, 17699203-17699213, 17699308-17699309, 17699384-17699387, 17699390, 17699491, 17699563-17699568, 17699618-17699643, 17699874-17699896, 17700929, 17700946-17700948, 17700952-17700964, 17701162-17701202, 17701470-17701489, 17701518-17701521, 17701528, 17701542-17701568, 17701590-17701613, 17701775, 17707156-17707163, 17713294 |
| 295 | MYO15A | 17 | 0.75757575757576 | 2568 | 10593 | 18022115-18022128, 18022212-18022255, 18022277-18022302, 18022371-18022407, 18022469-18022471, 18022479, 18022569-18022576, 18022591-18022593, 18022599-18022609, 18022620, 18022623, 18022645, 18022661-18022698, 18022736, 18022770-18022778, 18022803, 18022859, 18022866, 18022882-18022897, 18022900, 18022936-18022968, 18023022-18023079, 18023100-18023114, 18023265-18023314, 18023340-18023358, 18023395-18023422, 18023477-18023501, 18023550-18023575, 18023608-18023638, 18023660-18023662, 18023696-18023750, 18023756-18023766, 18023778-18023792, 18023799-18023810, 18023827-18023851, 18023870-18023932, 18023953-18023967, 18023978-18024391, 18024400-18024511, 18024521, 18024533-18024577, 18024587-18024588, 18024594-18024626, 18024648-18024691, 18024713-18024740, 18024748, 18024777-18024980, 18025004-18025007, 18025027-18025064, 18025087-18025130, 18025170-18025177, 18025187-18025231, 18025250, 18025319-18025351, 18025361-18025374, 18025404-18025459, 18025502, 18025510, 18025539, 18025568, 18025572-18025576, 18025595-18025615, 18025652-18025702, 18027852-18027858, 18028515-18028528, 18029661-18029678, 18029698-18029709, 18029744-18029752, 18030107, 18030397-18030408, 18036675-18036686, 18039124-18039130, 18039896-18039898, 18039948-18039955, 18041448-18041450, 18041515-18041527, 18042212-18042214, 18042850-18042866, 18042883-18042915, 18043842-18043851, 18043897, 18043944-18043945, 18043958-18043959, 18043971-18043979, 18044132-18044134, 18044333-18044348, 18044390-18044395, 18044967-18044979, 18045017-18045032, 18045393-18045423, 18045467, 18045478-18045488, 18045532-18045543, 18045554, 18045558-18045559, 18046077-18046084, 18046092, 18046097, 18046141-18046154, 18046880, 18046929-18046933, 18047055-18047065, 18047077, 18047083, 18047089-18047107, 18047193-18047217, 18047229-18047244, 18047261-18047286, 18047299-18047302, 18047312-18047314, 18049210-18049212, 18049247-18049254, 18049394, 18049397-18049402, 18051413-18051423, 18051453-18051470, 18051811-18051814, 18051826-18051868, 18051872, 18052237-18052250, 18052606-18052612, 18052866-18052868, 18052874, 18054828, 18057089-18057099, 18057102-18057106, 18057176-18057187, 18058055, 18058452-18058455, 18061103-18061109, 18061133, 18061136, 18061145-18061158, 18061162-18061175, 18070955-18070977 |
| 296 | UNC119 | 17 | 0.77869986168741 | 160 | 723 | 26874697-26874698, 26875705, 26879356-26879456, 26879468-26879469, 26879478-26879496, 26879502, 26879522-26879555 |
| 297 | NEK8 | 17 | 0.98797498797499 | 25 | 2079 | 27066161, 27067597-27067603, 27067965-27067966, 27067981-27067994, 27068556 |
| 298 | SLC6A4 | 17 | 0.98309561542525 | 32 | 1893 | 28543171-28543173, 28543179-28543197, 28543225-28543234 |
| 299 | HNF1B | 17 | 0.98924731182796 | 18 | 1674 | 36104598, 36104722, 36104758-36104766, 36104850-36104856 |
| 300 | TCAP | 17 | 0.92063492063492 | 40 | 504 | 37822015-37822018, 37822103-37822126, 37822351-37822362 |
| 301 | KRT10 | 17 | 0.97207977207977 | 49 | 1755 | 38975101-38975149 |
| 302 | KRT14 | 17 | 0.98449612403101 | 22 | 1419 | 39739509-39739515, 39742642-39742648, 39742832, 39742850-39742852, 39742856, 39742894, 39742898-39742899 |
| 303 | KRT16 | 17 | 0.95569620253165 | 63 | 1422 | 39766265-39766281, 39768490-39768496, 39768740-39768778 |
| 304 | KRT17 | 17 | 0.64665127020785 | 459 | 1299 | 39776788-39776810, 39776967-39777014, 39777021-39777057, 39777259, 39777311-39777332, 39778655-39778668, 39778722, 39779247-39779251, 39780330-39780410, 39780436-39780478, 39780496-39780557, 39780571-39780591, 39780620-39780702, 39780723-39780740 |
| 305 | FKBP10 | 17 | 0.80617495711835 | 339 | 1749 | 39969300-39969301, 39969312-39969314, 39969327-39969328, 39969336-39969421, 39969437-39969457, 39969510, 39973310-39973311, 39973414, 39973430-39973437, 39974341-39974357, 39974389, 39974392, 39974499, 39974654-39974678, 39974725-39974726, 39974734-39974766, 39974775, 39975525, 39975554-39975586, 39975844, 39976521-39976533, 39976560-39976570, 39976575, 39976578-39976590, 39976622, 39977206-39977208, 39977213-39977222, 39977270, 39977273, 39977328-39977329, 39977920-39977949, 39977995, 39978487, 39978496, 39978613-39978620 |
| 306 | STAT5B | 17 | 0.96489001692047 | 83 | 2364 | 40359676, 40370879, 40371382-40371386, 40371396-40371397, 40371414-40371461, 40371740, 40371747-40371750, 40371760, 40371779, 40384097-40384106, 40384122-40384129, 40384131 |
| 307 | STAT3 | 17 | 0.9978383052313 | 5 | 2313 | 40474360-40474364 |
| 308 | NAGLU | 17 | 0.96953405017921 | 68 | 2232 | 40688291-40688318, 40688355-40688364, 40688397-40688399, 40688409-40688410, 40688413-40688416, 40688453-40688455, 40688458, 40688480-40688483, 40688490, 40688496-40688498, 40688509, 40688541, 40688628-40688634 |
| 309 | BRCA1 | 17 | 0.99805481874447 | 11 | 5655 | 41223056, 41223060-41223067, 41258531, 41258546 |
| 310 | NAGS | 17 | 0.99750778816199 | 4 | 1605 | 42082155, 42082158, 42083494-42083495 |
| 311 | SLC4A1 | 17 | 0.9937865497076 | 17 | 2736 | 42328566, 42330673-42330675, 42334901-42334912, 42335083 |
| 312 | GRN | 17 | 0.96632996632997 | 60 | 1782 | 42429413-42429430, 42429558, 42429731, 42429924-42429931, 42430056-42430076, 42430156-42430166 |
| 313 | ITGA2B | 17 | 0.92371794871795 | 238 | 3120 | 42453065, 42453077, 42453080, 42453524-42453530, 42453683-42453714, 42453717, 42453720, 42457086-42457097, 42457815-42457816, 42460961-42461006, 42461042-42461058, 42461281-42461304, 42461453-42461465, 42462326-42462352, 42462655-42462658, 42462687-42462703, 42462919-42462921, 42463005, 42463047-42463066, 42463211-42463216, 42463476, 42466803 |
| 314 | PLEKHM1 | 17 | 0.99306212551246 | 22 | 3171 | 43515261, 43515306-43515326 |
| 315 | MAPT | 17 | 0.98970398970399 | 24 | 2331 | 44055749-44055750, 44055774, 44055787-44055788, 44055796, 44061006-44061013, 44061250-44061259 |
| 316 | WNT3 | 17 | 0.82677902621723 | 185 | 1068 | 44845700-44845720, 44845734-44845742, 44845762-44845763, 44845803-44845816, 44845911-44845918, 44845923-44845930, 44845963-44845972, 44847150-44847159, 44847263-44847305, 44847366-44847371, 44851039-44851046, 44851086-44851087, 44851091-44851094, 44851132-44851133, 44851136-44851151, 44851181-44851198, 44851204, 44895884-44895886 |
| 317 | SGCA | 17 | 0.98969072164948 | 12 | 1164 | 48252653, 48252731-48252741 |
| 318 | COL1A1 | 17 | 0.99271899886234 | 32 | 4395 | 48263205, 48263212-48263216, 48264014-48264031, 48266768-48266772, 48272151-48272153 |
| 319 | MKS1 | 17 | 0.99047619047619 | 16 | 1680 | 56283826-56283840, 56285943 |
| 320 | RAD51C | 17 | 0.97789566755084 | 25 | 1131 | 56787220-56787226, 56787249, 56787252-56787257, 56787334, 56787342-56787351 |
| 321 | AP1S2 | 17 | 0.99839743589744 | 1 | 624 | 58179563 |
| 322 | TBX4 | 17 | 0.996336996337 | 6 | 1638 | 59534000, 59534016-59534018, 59534023-59534024 |
| 323 | ACE | 17 | 0.84417240499872 | 611 | 3921 | 61554456-61554668, 61554678-61554701, 61555316-61555362, 61555429, 61555445, 61557237-61557247, 61557724-61557736, 61557764-61557775, 61557782, 61557822-61557839, 61557872-61557875, 61558536-61558549, 61558927-61558945, 61559895-61559898, 61560026-61560050, 61561311-61561318, 61561719-61561725, 61561796-61561830, 61561888-61561902, 61564021-61564026, 61564403-61564406, 61564411-61564412, 61564424-61564426, 61566031, 61566106-61566130, 61566437-61566444, 61566480-61566483, 61568405-61568412, 61568630, 61568670, 61568699, 61570849-61570852, 61574211, 61574279-61574287, 61574520-61574533, 61574539-61574540, 61574558-61574576, 61574582-61574606, 61574693 |
| 324 | GH1 | 17 | 0.97859327217125 | 14 | 654 | 61995180, 61995257-61995266, 61995410, 61995483, 61995836 |
| 325 | POLG2 | 17 | 0.99725651577503 | 4 | 1458 | 62473979-62473982 |
| 326 | AXIN2 | 17 | 0.99960505529226 | 1 | 2532 | 63533103 |
| 327 | COG1 | 17 | 0.98504926945294 | 44 | 2943 | 71189236-71189244, 71189281-71189282, 71189286, 71189318-71189321, 71189357, 71189411-71189437 |
| 328 | DNAI2 | 17 | 0.998899889989 | 2 | 1818 | 72308334-72308335 |
| 329 | USH1G | 17 | 0.79437229437229 | 285 | 1386 | 72915561, 72915594-72915613, 72915625, 72915629-72915632, 72915636-72915641, 72915691-72915696, 72915853-72915872, 72915949-72915950, 72915958, 72916072, 72916081-72916088, 72916101-72916103, 72916109-72916113, 72916159-72916189, 72916195, 72916200-72916220, 72916296, 72916299-72916304, 72916419-72916436, 72916489-72916499, 72916535-72916543, 72916551-72916559, 72916596, 72916599-72916604, 72916714, 72916719-72916722, 72916744-72916766, 72919005-72919025, 72919059, 72919076, 72919081, 72919084, 72919116-72919155 |
| 330 | SLC25A19 | 17 | 0.99480789200415 | 5 | 963 | 73273524-73273528 |
| 331 | TSEN54 | 17 | 0.58191018342821 | 661 | 1581 | 73512642-73512697, 73512827-73512991, 73513090-73513094, 73513104-73513153, 73513242-73513243, 73513273, 73513281, 73513324-73513325, 73513643-73513651, 73513679-73513696, 73515089-73515090, 73517895-73517938, 73517950-73517996, 73518002-73518036, 73518100-73518120, 73518142-73518174, 73518190-73518251, 73518275, 73518288-73518289, 73518298-73518328, 73518334-73518347, 73518349-73518364, 73518372-73518410, 73519399, 73519413, 73520355-73520357 |
| 332 | ITGB4 | 17 | 0.89175351983909 | 592 | 5469 | 73720825-73720826, 73725393-73725396, 73725437, 73726337, 73726345-73726346, 73726438, 73726464-73726494, 73726552-73726585, 73726980-73727013, 73727446, 73727901, 73729635, 73732391, 73732398, 73732695, 73736126, 73736129, 73736134, 73736916, 73737063-73737065, 73737068-73737077, 73738478, 73744936-73744965, 73745020, 73746798, 73747117-73747151, 73748628, 73748640-73748645, 73749852-73749876, 73749891, 73749894-73749895, 73749900-73750019, 73750743, 73751782-73751797, 73751801-73751803, 73751865-73751885, 73751904-73751931, 73752514, 73752585-73752589, 73752641-73752656, 73752785-73752811, 73752857-73752878, 73752889-73752892, 73753024-73753066, 73753086-73753106, 73753129-73753148, 73753332, 73753337-73753341, 73753521, 73753589 |
| 333 | GALK1 | 17 | 0.76929601357082 | 272 | 1179 | 73754170-73754187, 73754193, 73754291-73754295, 73754328-73754392, 73754411-73754432, 73754442-73754453, 73754530-73754561, 73754577-73754606, 73754628-73754650, 73759177, 73759185-73759186, 73759494, 73761053-73761054, 73761061-73761065, 73761139-73761187, 73761211-73761214 |
| 334 | UNC13D | 17 | 0.84356859150626 | 512 | 3273 | 73824921-73824925, 73824961-73824981, 73825014-73825025, 73825030-73825046, 73825048-73825051, 73826138-73826151, 73826180-73826195, 73826443-73826485, 73826525-73826533, 73826659-73826681, 73827205, 73827221-73827235, 73827246, 73827401-73827416, 73827421, 73830220-73830224, 73830757-73830765, 73830772, 73831733-73831736, 73831845-73831858, 73832152-73832153, 73832294-73832306, 73832432-73832434, 73832735-73832738, 73832741, 73832748-73832777, 73835920-73835942, 73836125-73836135, 73836176, 73836386-73836390, 73838534-73838573, 73838654, 73838986-73839004, 73839098-73839115, 73839130-73839154, 73839250-73839265, 73839315-73839323, 73839336-73839345, 73839581-73839600, 73840343-73840372 |
| 335 | SEPT9 | 17 | 0.70187393526405 | 525 | 1761 | 75277618-75277636, 75303240, 75398238-75398239, 75398335-75398350, 75398387, 75398402-75398407, 75398435-75398461, 75398605-75398617, 75398640-75398686, 75398747, 75398767, 75398784-75398785, 75478247-75478263, 75478300-75478301, 75478304, 75478319, 75478334-75478348, 75478365-75478366, 75478375, 75478398-75478417, 75483591-75483618, 75484345, 75484810-75484813, 75484839-75484845, 75484849, 75484870, 75484889-75484946, 75486841-75486862, 75486911-75486913, 75486933-75486941, 75488704-75488709, 75488714-75488722, 75488731, 75488740-75488749, 75489062-75489081, 75489128-75489139, 75489151-75489152, 75494605-75494740 |
| 336 | GAA | 17 | 0.84120321790836 | 454 | 2859 | 78078525-78078575, 78078661-78078700, 78078706-78078732, 78078920, 78079668-78079670, 78081447-78081479, 78081658-78081679, 78082130-78082143, 78082167-78082172, 78082179, 78082288-78082292, 78082304-78082334, 78082390-78082401, 78082496-78082533, 78082588-78082605, 78084549-78084566, 78084758, 78085823-78085826, 78085832, 78086404-78086418, 78086436-78086457, 78086675-78086700, 78087143-78087144, 78087147, 78091445-78091467, 78092035-78092046, 78092130-78092154, 78092462, 78092468 |
| 337 | SGSH | 17 | 0.8416169648774 | 239 | 1509 | 78184280-78184284, 78184313, 78184321-78184322, 78184351, 78184360-78184361, 78184367-78184376, 78184424-78184437, 78184463-78184467, 78184501-78184535, 78184542-78184552, 78184617-78184625, 78184680-78184704, 78184708, 78184722-78184750, 78184804-78184810, 78187603-78187604, 78188420-78188428, 78188435-78188440, 78188452-78188454, 78188847-78188877, 78188910-78188935, 78190838-78190841, 78194072 |
| 338 | ACTG1 | 17 | 0.51063829787234 | 552 | 1128 | 79477716, 79477737, 79477750, 79477753-79477754, 79477758, 79477769-79477771, 79477776-79477779, 79477818-79477820, 79477836-79477859, 79477954, 79477971-79478009, 79478019-79478022, 79478035-79478037, 79478042, 79478046-79478048, 79478064-79478066, 79478101-79478134, 79478214-79478215, 79478221-79478377, 79478387-79478431, 79478490-79478535, 79478541-79478563, 79478586, 79478589, 79478595, 79478612, 79478622, 79478944-79478987, 79479053-79479076, 79479094-79479126, 79479158, 79479258-79479293, 79479332, 79479335, 79479352-79479357 |
| 339 | FSCN2 | 17 | 0.064232589587559 | 1384 | 1479 | 79495558-79495560, 79495568, 79495595-79495621, 79495636-79495649, 79495658-79495779, 79495787-79496296, 79496305-79496383, 79502078-79502177, 79502197-79502228, 79503172-79503293, 79503648-79503815, 79503901-79504106 |
| 340 | AFG3L2 | 18 | 0.97243107769424 | 66 | 2394 | 12353103, 12359931, 12371610-12371625, 12376982-12377015, 12377041-12377045, 12377073-12377081 |
| 341 | NPC1 | 18 | 0.99843627834246 | 6 | 3837 | 21166267-21166272 |
| 342 | LAMA3 | 18 | 0.99800039992002 | 20 | 10002 | 21269648-21269663, 21269706-21269708, 21269711 |
| 343 | DSG2 | 18 | 0.98957402442657 | 35 | 3357 | 29078216-29078223, 29078234-29078259, 29116216 |
| 344 | LOXHD1 | 18 | 0.99397227245329 | 40 | 6636 | 44104514-44104520, 44104523-44104547, 44104849-44104856 |
| 345 | MYO5B | 18 | 0.99855777897963 | 8 | 5547 | 47429036, 47721157-47721163 |
| 346 | ATP8B1 | 18 | 0.99787007454739 | 8 | 3756 | 55359198, 55359201, 55364852-55364857 |
| 347 | CCBE1 | 18 | 0.9041769041769 | 117 | 1221 | 57133985-57134001, 57134038-57134123, 57136740, 57136744-57136751, 57136758-57136759, 57136767, 57364504, 57364560 |
| 348 | TNFRSF11A | 18 | 0.97298757428417 | 50 | 1851 | 59992586-59992607, 59992624-59992651 |
| 349 | CTDP1 | 18 | 0.74358974358974 | 740 | 2886 | 77439948-77440197, 77440203-77440210, 77440218-77440261, 77455250, 77455979, 77455986, 77455989-77455991, 77455998-77456000, 77456003-77456004, 77457878, 77457904-77457945, 77457966, 77457971-77457973, 77457984-77457988, 77473005-77473007, 77473085-77473087, 77473091, 77473123, 77473127, 77474491-77474492, 77474505, 77474541-77474555, 77474563-77474566, 77474590-77474591, 77474604, 77474638-77474659, 77474697-77474800, 77474806-77474883, 77474927-77474929, 77474948, 77474991-77475031, 77475053, 77475072, 77475076-77475080, 77475095-77475098, 77475166, 77475188-77475190, 77475313, 77475447, 77475508-77475528, 77477655, 77477810-77477814, 77477957-77477964, 77478013, 77488990, 77496411, 77496422-77496425, 77496462-77496493, 77496504 |
| 350 | ELANE | 19 | 0.24004975124378 | 611 | 804 | 852329-852348, 852381-852395, 852876-852943, 852967-853032, 853262-853390, 855571-855660, 855669-855788, 855958-856013, 856041, 856056-856098, 856110, 856140, 856153 |
| 351 | KISS1R | 19 | 0.35923141186299 | 767 | 1197 | 917509-917574, 917582-917702, 917719-917720, 917733-917746, 918544-918668, 919490-919500, 919569-919584, 919907-920106, 920297, 920303, 920308-920339, 920345-920351, 920385-920387, 920407-920415, 920421-920423, 920428, 920431, 920452-920486, 920507, 920548-920604, 920630, 920642, 920645-920669, 920686, 920700-920717, 920727-920737, 920745-920748 |
| 352 | STK11 | 19 | 0.27649769585253 | 942 | 1302 | 1207026-1207039, 1207058, 1207173-1207190, 1218474-1218475, 1218498-1218499, 1219323-1219412, 1220372-1220504, 1220580-1220688, 1220699-1220716, 1221212-1221339, 1221948-1222005, 1222984-1222992, 1223006-1223171, 1226453-1226646 |
| 353 | NDUFS7 | 19 | 0.62461059190031 | 241 | 642 | 1383926-1383930, 1387818-1387846, 1388525-1388528, 1388538, 1388555-1388577, 1390888, 1390892-1390907, 1390918-1390920, 1391119-1391127, 1393245-1393261, 1393271-1393286, 1393291, 1393299, 1393308-1393329, 1395395-1395487 |
| 354 | GAMT | 19 | 0.3962962962963 | 489 | 810 | 1398675-1398676, 1398695, 1398701, 1398704, 1398718-1398773, 1398809-1398916, 1398923-1398956, 1398966-1398978, 1398984-1398990, 1398994, 1399002-1399006, 1399013, 1399016-1399020, 1399145-1399151, 1399523-1399569, 1399576-1399586, 1399792, 1399801-1399839, 1399874-1399900, 1399919-1399937, 1401301-1401332, 1401340, 1401359-1401389, 1401393, 1401401-1401404, 1401412, 1401415-1401446, 1401474 |
| 355 | RAX2 | 19 | 0.45405405405405 | 303 | 555 | 3770619-3770680, 3770692-3770721, 3770761-3770773, 3770779, 3770787, 3770800-3770801, 3770822-3770826, 3770849-3770853, 3770862-3770866, 3770877-3770914, 3770927-3770930, 3771531-3771561, 3771567-3771619, 3771635-3771636, 3771644-3771679, 3771694, 3771727-3771740 |
| 356 | MAP2K2 | 19 | 0.43391521197007 | 681 | 1203 | 4090596-4090706, 4094451-4094496, 4095386-4095415, 4095419-4095424, 4095440-4095447, 4097303-4097341, 4099199-4099322, 4099337-4099412, 4101076-4101087, 4101124-4101141, 4101254-4101259, 4102426, 4110507-4110540, 4110557-4110592, 4110625-4110637, 4117430-4117447, 4117560, 4117575, 4117584, 4117595-4117596, 4117622-4117627, 4123781-4123872 |
| 357 | NDUFA11 | 19 | 0.97652582159624 | 10 | 426 | 5903623, 5903652-5903659, 5903681 |
| 358 | TUBB4 | 19 | 0.99475655430712 | 7 | 1335 | 6502177-6502183 |
| 359 | C3 | 19 | 0.96013621794872 | 199 | 4992 | 6693490-6693498, 6697406, 6697802, 6707087-6707106, 6707179, 6709710-6709745, 6709829-6709832, 6709841, 6709845-6709849, 6714003-6714093, 6714185, 6714191-6714215, 6714420-6714423 |
| 360 | INSR | 19 | 0.99108218847915 | 37 | 4149 | 7132185-7132191, 7293864-7293892, 7293898 |
| 361 | MCOLN1 | 19 | 0.94148020654045 | 102 | 1743 | 7587657, 7587660-7587664, 7593539-7593556, 7593580-7593587, 7594523-7594526, 7594530-7594536, 7594540-7594544, 7595335, 7598463-7598464, 7598488-7598538 |
| 362 | PNPLA6 | 19 | 0.75727911646586 | 967 | 3984 | 7600444-7600451, 7600889-7600892, 7601129-7601136, 7604872-7604889, 7604935-7604944, 7605108-7605121, 7605134-7605174, 7606547-7606570, 7606906-7606949, 7607447-7607448, 7607465-7607467, 7607475-7607489, 7607546-7607556, 7607796-7607814, 7607910-7607912, 7607926-7607928, 7614793-7614926, 7614938-7614998, 7615184-7615315, 7615403-7615488, 7615499, 7615510-7615526, 7615886-7615952, 7615961-7615985, 7616248-7616313, 7619580-7619609, 7619873-7619930, 7620169-7620174, 7620212-7620221, 7620544, 7622076-7622083, 7622124, 7622169-7622170, 7623751-7623757, 7623822-7623849 |
| 363 | STXBP2 | 19 | 0.95510662177329 | 80 | 1782 | 7702036-7702070, 7703646, 7706635, 7706988-7706989, 7707185-7707194, 7707340-7707342, 7707684, 7708068-7708083, 7711135-7711139, 7711156, 7712248-7712252 |
| 364 | ADAMTS10 | 19 | 0.99547101449275 | 15 | 3312 | 8654227-8654230, 8669931, 8670018-8670020, 8670144-8670150 |
| 365 | TYK2 | 19 | 0.73260381593715 | 953 | 3564 | 10461545, 10461777-10461783, 10461788, 10463110-10463153, 10463198-10463201, 10463207-10463210, 10463617-10463713, 10463720-10463721, 10463725, 10463730, 10463736-10463741, 10463763, 10464204-10464238, 10464755-10464766, 10464801-10464804, 10464823, 10464827, 10465207-10465216, 10465261-10465285, 10468464-10468489, 10468522, 10468526, 10468532, 10468535-10468537, 10468594, 10468679-10468684, 10468691-10468694, 10468750-10468752, 10468762-10468790, 10469876-10469890, 10469906-10469934, 10469975, 10472824-10472837, 10473081, 10473317-10473323, 10475301-10475356, 10475375-10475380, 10475413-10475419, 10475527-10475555, 10475569, 10475707-10475724, 10476283, 10476304, 10476314-10476388, 10476407-10476413, 10476428-10476464, 10476477, 10476484-10476488, 10476536-10476542, 10476574, 10477098-10477127, 10477227-10477256, 10478808-10478812, 10478847-10478873, 10478989, 10479079-10479094, 10488890-10489082 |
| 366 | DNM2 | 19 | 0.92958285495599 | 184 | 2613 | 10829001-10829003, 10870414-10870433, 10870451-10870482, 10893712-10893723, 10897335-10897375, 10922959-10922968, 10922980, 10922985, 10923014-10923022, 10923047-10923053, 10934489, 10934528, 10935771-10935772, 10935865-10935871, 10939751, 10939754, 10941654-10941672, 10941707-10941722 |
| 367 | LDLR | 19 | 0.98064266356949 | 50 | 2583 | 11200276-11200279, 11221383, 11223960-11223973, 11224258-11224261, 11224296-11224302, 11224437-11224438, 11231159-11231166, 11233919-11233922, 11233994, 11233999-11234000, 11238733-11238734, 11240318 |
| 368 | LDLR | 19 | 0.99649122807018 | 1 | 285 | 11240318 |
| 369 | PRKCSH | 19 | 0.94643982356648 | 85 | 1587 | 11546950-11546962, 11548888, 11552085-11552086, 11552089, 11556212-11556217, 11558293-11558295, 11558337-11558376, 11558526, 11558553-11558558, 11558561, 11559051-11559059, 11560124, 11560127 |
| 370 | MAN2B1 | 19 | 0.91106719367589 | 270 | 3036 | 12758098, 12758320-12758361, 12758398, 12759021-12759031, 12759047, 12759097, 12759100, 12759105, 12759111-12759113, 12759119, 12759978, 12766526, 12766599-12766618, 12766685-12766688, 12768260-12768266, 12768272-12768354, 12768887-12768894, 12768920-12768955, 12769098, 12769277-12769319, 12774208, 12776571-12776572 |
| 371 | GCDH | 19 | 0.92103264996203 | 104 | 1317 | 13002175-13002206, 13002333-13002336, 13006829, 13006876-13006890, 13007151-13007193, 13008534-13008542 |
| 372 | CACNA1A | 19 | 0.95904799893631 | 308 | 7521 | 13318160, 13318164, 13318241-13318279, 13318311-13318321, 13318357-13318364, 13318410-13318413, 13318439, 13318470-13318472, 13318476-13318486, 13318541-13318595, 13318601-13318620, 13318643-13318703, 13318734-13318757, 13318791-13318807, 13318812, 13318814, 13318816, 13319692-13319697, 13325408-13325417, 13409591-13409601, 13409834, 13409837-13409840, 13409882-13409897, 13617007 |
| 373 | NOTCH3 | 19 | 0.93123743898938 | 479 | 6966 | 15285098, 15291841-15291851, 15300216-15300217, 15300227, 15302235-15302289, 15302347-15302351, 15302362-15302386, 15302456-15302457, 15302556-15302575, 15302620-15302629, 15302802-15302849, 15302852-15302854, 15302878-15302899, 15302916-15302920, 15302933-15302934, 15302971-15303004, 15303060-15303090, 15303201-15303245, 15303275-15303294, 15303301-15303330, 15311610-15311716 |
| 374 | JAK3 | 19 | 0.91466666666667 | 288 | 3375 | 17940917-17940936, 17940944, 17940949-17941027, 17941379, 17950352, 17950394-17950397, 17953134-17953170, 17953182-17953188, 17953234-17953259, 17953320-17953322, 17953343-17953365, 17953836-17953867, 17953935-17953969, 17954211-17954212, 17954266-17954267, 17955092, 17955165-17955178 |
| 375 | SLC5A5 | 19 | 0.93426501035197 | 127 | 1932 | 17983138-17983140, 17984948-17984990, 17986761-17986801, 17986881-17986915, 17994491, 17994523, 17994526, 17994660, 17994663 |
| 376 | IL12RB1 | 19 | 0.93212669683258 | 135 | 1989 | 18179231-18179237, 18179316-18179326, 18183111, 18186598, 18186603-18186618, 18186623, 18186626-18186642, 18188343-18188345, 18188443-18188454, 18191750-18191757, 18191762-18191776, 18194293, 18197570-18197609, 18197632-18197633 |
| 377 | COMP | 19 | 0.82233948988566 | 404 | 2274 | 18893728-18893771, 18893893, 18893970-18893971, 18893985, 18893989, 18895079, 18895090-18895091, 18896488, 18896517, 18896522-18896543, 18896546-18896551, 18896555, 18896558-18896560, 18896568, 18896623, 18896627, 18896775-18896778, 18896783, 18896847-18896861, 18898302, 18898312, 18898317, 18898334, 18898441, 18898446, 18899074-18899075, 18899079-18899088, 18899112-18899115, 18899122, 18899250, 18899271-18899282, 18899308-18899318, 18899401-18899419, 18899437-18899457, 18899470-18899488, 18899491-18899493, 18899496-18899502, 18899527-18899535, 18899544-18899559, 18899684, 18899722, 18899982-18900044, 18900072-18900074, 18900080, 18900103-18900106, 18900758, 18900782-18900815, 18900850-18900852, 18900858, 18901659-18901690, 18901708, 18901718-18901726 |
| 378 | CEBPA | 19 | 0.33611884865367 | 715 | 1077 | 33792244-33792256, 33792300, 33792345, 33792398, 33792441-33792447, 33792480-33792498, 33792515-33792536, 33792546-33792563, 33792577-33792617, 33792631-33792640, 33792653-33792657, 33792667-33792668, 33792681, 33792687-33792704, 33792710-33793073, 33793083-33793103, 33793110-33793118, 33793146-33793262, 33793276-33793320 |
| 379 | SCN1B | 19 | 0.95043370508055 | 40 | 807 | 35521725-35521764 |
| 380 | HAMP | 19 | 0.9921568627451 | 2 | 255 | 35773504, 35773521 |
| 381 | MAG | 19 | 0.82349813928761 | 332 | 1881 | 35786348, 35786516-35786517, 35786566-35786571, 35786684-35786710, 35790457-35790460, 35790482-35790500, 35790536-35790571, 35790593-35790606, 35790631, 35790634-35790645, 35790727-35790733, 35791050-35791095, 35791125-35791174, 35791193-35791231, 35791241-35791260, 35793510-35793552, 35793607-35793611 |
| 382 | PRODH2 | 19 | 0.99751707014277 | 4 | 1611 | 36290981-36290984 |
| 383 | TYROBP | 19 | 0.92625368731563 | 25 | 339 | 36398386-36398393, 36398473-36398476, 36399090-36399097, 36399101-36399103, 36399121-36399122 |
| 384 | SDHAF1 | 19 | 0.32471264367816 | 235 | 348 | 36486177-36486211, 36486217-36486252, 36486258-36486299, 36486314, 36486333-36486385, 36486395-36486399, 36486407-36486415, 36486439, 36486450-36486455, 36486466-36486471, 36486483-36486523 |
| 385 | WDR62 | 19 | 0.97681539807524 | 106 | 4572 | 36558266, 36558269, 36582355, 36582359, 36583666-36583670, 36591701, 36591756, 36594521, 36594871-36594872, 36595440-36595442, 36595539-36595545, 36595676-36595712, 36595739-36595740, 36595753-36595754, 36595758, 36595860-36595899 |
| 386 | RYR1 | 19 | 0.96560164053714 | 520 | 15117 | 38931400, 38931447-38931476, 38937185-38937197, 38976656-38976657, 38987529-38987532, 38998421, 39017654-39017667, 39018302-39018308, 39037115-39037117, 39037166, 39055610-39055621, 39055649-39055706, 39055714-39055799, 39055812-39055886, 39055906-39056024, 39056034, 39056059-39056074, 39056077, 39056165, 39056176-39056178, 39056208, 39056211-39056243, 39056251, 39056330-39056357, 39075711-39075717, 39076586, 39077975 |
| 387 | ACTN4 | 19 | 0.86111111111111 | 380 | 2736 | 39138431-39138434, 39138506-39138513, 39205153-39205161, 39207807, 39208607-39208614, 39214313-39214340, 39214355, 39214596, 39214601, 39214615, 39214652-39214656, 39214692-39214710, 39214806-39214811, 39214869-39214890, 39214918-39214960, 39215073-39215077, 39215080, 39215104-39215126, 39215145-39215166, 39215193-39215196, 39216374-39216400, 39216435, 39216463-39216501, 39217615-39217616, 39219718-39219754, 39219777-39219780, 39219940-39219959, 39219991-39219994, 39220005-39220007, 39220036-39220066 |
| 388 | DLL3 | 19 | 0.82821755519655 | 319 | 1857 | 39993460-39993505, 39993516, 39993553-39993609, 39993627, 39994711-39994724, 39994773-39994832, 39994835, 39994841, 39994853-39994899, 39995869-39995881, 39995985-39996006, 39997738-39997746, 39997783-39997784, 39997849-39997890, 39998572, 39998577-39998578 |
| 389 | PRX | 19 | 0.99521203830369 | 21 | 4386 | 40903481, 40909625-40909630, 40909646, 40909660, 40909680-40909683, 40909719-40909724, 40909756, 40909768 |
| 390 | TGFB1 | 19 | 0.96589940323956 | 40 | 1173 | 41854242-41854250, 41854309-41854314, 41858757-41858761, 41858765, 41858919-41858932, 41858944-41858948 |
| 391 | BCKDHA | 19 | 0.95964125560538 | 54 | 1338 | 41903746-41903750, 41920036, 41920040-41920042, 41925040-41925071, 41925184-41925190, 41929072, 41930470-41930473, 41930497 |
| 392 | ATP1A3 | 19 | 0.97716150081566 | 84 | 3678 | 42470758-42470760, 42470844-42470858, 42470882-42470935, 42471028-42471033, 42480592-42480597 |
| 393 | ETHE1 | 19 | 0.99477124183007 | 4 | 765 | 44012183-44012184, 44012191, 44031294 |
| 394 | BCAM | 19 | 0.95919448860625 | 77 | 1887 | 45312382-45312385, 45312401-45312463, 45323968, 45324007, 45324041-45324048 |
| 395 | APOE | 19 | 0.99056603773585 | 9 | 954 | 45412205-45412213 |
| 396 | BLOC1S3 | 19 | 0.97044334975369 | 18 | 609 | 45683099-45683116 |
| 397 | ERCC2 | 19 | 0.96233026719229 | 86 | 2283 | 45867094-45867119, 45867152-45867153, 45867161-45867169, 45867294-45867315, 45867329-45867344, 45867513-45867520, 45867704, 45867708, 45873468 |
| 398 | SIX5 | 19 | 0.78018018018018 | 488 | 2220 | 46268865-46268866, 46268869, 46268924-46268925, 46268935-46268953, 46268972-46268984, 46269196-46269211, 46269313, 46269723, 46269878-46269894, 46269948-46269950, 46269953-46269954, 46270017, 46270033, 46270092-46270126, 46270139-46270205, 46270327-46270338, 46270350-46270352, 46271300-46271341, 46271372-46271380, 46271520-46271523, 46271600-46271606, 46271609-46271612, 46271648, 46271692-46271716, 46271734-46271767, 46271821-46271827, 46271836-46271912, 46271941, 46271952-46271956, 46271968-46271979, 46271983-46271986, 46272027-46272086 |
| 399 | DMPK | 19 | 0.95555555555556 | 84 | 1890 | 46274273-46274299, 46274316-46274317, 46281410-46281439, 46281865-46281867, 46285528, 46285532-46285533, 46285548, 46285551, 46285578-46285594 |
| 400 | FKRP | 19 | 0.48319892473118 | 769 | 1488 | 47258727-47258731, 47258764-47258766, 47258770-47258771, 47258781-47258790, 47258827-47258831, 47258922-47258955, 47258989-47259033, 47259050-47259217, 47259221, 47259225, 47259237-47259238, 47259242, 47259252-47259310, 47259343-47259565, 47259618-47259625, 47259640-47259682, 47259689-47259754, 47259924-47259925, 47259929-47259934, 47259965-47259968, 47260060-47260087, 47260107-47260112, 47260128-47260174 |
| 401 | DBP | 19 | 0.58486707566462 | 406 | 978 | 49134094-49134098, 49134107-49134117, 49134158-49134176, 49134182, 49134240-49134243, 49134288, 49136776-49136795, 49138837-49139020, 49139043-49139054, 49139057-49139067, 49139077-49139101, 49139106-49139116, 49139122-49139200, 49139211-49139212, 49139226-49139244, 49140199, 49140202 |
| 402 | BCAT2 | 19 | 0.9618320610687 | 45 | 1179 | 49302995, 49303036-49303039, 49303313-49303324, 49303452-49303455, 49303461-49303464, 49309960, 49310328-49310331, 49314245-49314259 |
| 403 | FTL | 19 | 0.99810606060606 | 1 | 528 | 49469027 |
| 404 | GYS1 | 19 | 0.98554652213189 | 32 | 2214 | 49494599, 49496287-49496299, 49496303-49496306, 49496309-49496314, 49496323-49496330 |
| 405 | MED25 | 19 | 0.83377896613191 | 373 | 2244 | 50321599-50321607, 50321656-50321685, 50321695-50321701, 50321828-50321855, 50322429-50322451, 50331741, 50331745, 50332304-50332307, 50333135-50333137, 50333144-50333149, 50333182, 50333187-50333193, 50333447-50333475, 50333773-50333796, 50333811-50333816, 50333844, 50334095, 50334098-50334099, 50334103-50334104, 50334130-50334140, 50334665-50334682, 50335392-50335414, 50335667-50335672, 50338256-50338259, 50338265-50338267, 50338368-50338370, 50338413-50338420, 50338805, 50339125-50339130, 50339141-50339142, 50339157-50339161, 50339197-50339202, 50339486-50339495, 50339534, 50339544, 50339553-50339576, 50339585-50339611, 50339628-50339629, 50339653, 50339656, 50340116, 50340126, 50340134-50340136, 50340138-50340149, 50340179, 50340185, 50340196-50340201 |
| 406 | PNKP | 19 | 0.97509578544061 | 39 | 1566 | 50364561-50364566, 50364570-50364579, 50364716, 50370354-50370368, 50370442-50370448 |
| 407 | MYH14 | 19 | 0.98789068892162 | 74 | 6111 | 50762522, 50764828, 50764853-50764892, 50766581-50766600, 50770136, 50770215-50770218, 50779280-50779286 |
| 408 | KCNC3 | 19 | 0.82014072119613 | 409 | 2274 | 50823564, 50823569-50823570, 50826315-50826319, 50826355, 50826369-50826393, 50826396-50826413, 50826443-50826477, 50831686-50831741, 50831757-50831760, 50831936-50831990, 50831996-50832020, 50832119, 50832122-50832123, 50832125, 50832134-50832147, 50832152-50832160, 50832185-50832339 |
| 409 | ETFB | 19 | 0.99615754082613 | 4 | 1041 | 51857417-51857420 |
| 410 | NLRP12 | 19 | 0.84023854362837 | 509 | 3186 | 54297303-54297310, 54301527-54301531, 54301643, 54301657-54301667, 54304522, 54304554, 54304594-54304605, 54304618-54304620, 54304623-54304625, 54307318, 54307322-54307326, 54307359, 54308553-54308554, 54308624, 54308633-54308646, 54308650-54308656, 54308671-54308672, 54310832-54310837, 54310844, 54310896-54310902, 54312870-54312884, 54312891-54312926, 54312960-54313003, 54313033-54313039, 54313076-54313099, 54313109-54313131, 54313175-54313177, 54313185, 54313276-54313282, 54313481-54313508, 54313558, 54313586-54313644, 54313657-54313683, 54313689-54313690, 54313790-54313793, 54313798, 54313850-54313885, 54313907-54313913, 54313918-54313923, 54313971-54313978, 54314022, 54314169-54314170, 54314174, 54314181, 54314232-54314238, 54314288-54314307, 54314389, 54314392, 54314427, 54314473-54314514, 54318181 |
| 411 | PRKCG | 19 | 0.97659980897803 | 49 | 2094 | 54385820, 54392921-54392960, 54393207-54393208, 54393214, 54401743-54401745, 54409979, 54410052 |
| 412 | PRPF31 | 19 | 0.324 | 1014 | 1500 | 54621667-54621727, 54621961, 54621966-54621988, 54625239-54625258, 54625895-54625901, 54625928, 54625935-54625942, 54625963-54625973, 54626871-54626896, 54626906, 54626921-54626925, 54627138-54627162, 54627168-54627195, 54627250-54627259, 54627270-54627297, 54627878-54627887, 54627906-54627951, 54627961-54628007, 54628025-54628035, 54629903-54629992, 54631448-54631575, 54631680-54631752, 54632432-54632560, 54632647-54632745, 54634738-54634863 |
| 413 | TSEN34 | 19 | 0.90782422293676 | 86 | 933 | 54695271, 54695310-54695342, 54695358-54695390, 54695426, 54695439, 54695582-54695588, 54695678, 54695754, 54696050-54696052, 54696056-54696058, 54696096, 54696127 |
| 414 | TNNT1 | 19 | 0.6020278833967 | 314 | 789 | 55644283-55644328, 55645255-55645295, 55645446-55645461, 55645481, 55645489, 55645504-55645510, 55645523-55645524, 55648492, 55648521-55648522, 55648543, 55648566-55648580, 55649347, 55649350, 55649382-55649399, 55649437-55649441, 55652264-55652328, 55652594-55652639, 55653229-55653264, 55657808, 55658064-55658066, 55658069, 55658072-55658075 |
| 415 | TNNI3 | 19 | 0.93267651888342 | 41 | 609 | 55665430, 55665452, 55665457, 55665494-55665501, 55665539, 55665557-55665564, 55666137, 55666142-55666143, 55666177-55666179, 55667655-55667661, 55667671-55667675, 55667990, 55668450, 55668456 |
| 416 | TPO | 2 | 0.88401142041399 | 325 | 2802 | 1481045-1481046, 1481050, 1481143-1481162, 1481217, 1481231, 1481277, 1488398, 1488536, 1488543, 1488612-1488613, 1497580-1497616, 1497635-1497657, 1497777-1497780, 1499881-1499888, 1499899, 1499916-1499919, 1499927, 1500507-1500517, 1520655-1520754, 1544366-1544378, 1544388-1544426, 1544452-1544454, 1544460-1544464, 1544474-1544495, 1546224-1546246 |
| 417 | RPS7 | 2 | 0.96581196581197 | 20 | 585 | 3623208-3623214, 3623249-3623260, 3623454 |
| 418 | KLF11 | 2 | 0.97270955165692 | 42 | 1539 | 10183844-10183885 |
| 419 | MYCN | 2 | 0.99856630824373 | 2 | 1395 | 16082390-16082391 |
| 420 | APOB | 2 | 0.99554484370435 | 61 | 13692 | 21225307, 21225310, 21266748-21266806 |
| 421 | POMC | 2 | 0.99875621890547 | 1 | 804 | 25384469 |
| 422 | HADHA | 2 | 0.98821989528796 | 27 | 2292 | 26414415-26414441 |
| 423 | HADHB | 2 | 0.99017543859649 | 14 | 1425 | 26508377-26508390 |
| 424 | OTOF | 2 | 0.81414748081415 | 1114 | 5994 | 26695404-26695415, 26695491-26695493, 26695506-26695509, 26696021, 26696027, 26696087-26696119, 26696274-26696288, 26696366-26696367, 26696422-26696424, 26696868-26696871, 26696890-26696896, 26696903-26696934, 26696964-26696978, 26697381-26697542, 26698227-26698228, 26698257-26698264, 26698312-26698341, 26698352-26698354, 26698782-26698798, 26698996-26699046, 26699055-26699062, 26699098-26699176, 26699798-26699817, 26699841-26699911, 26700040-26700068, 26700076-26700156, 26700284-26700290, 26700311, 26700323-26700325, 26700361-26700374, 26700517-26700525, 26700541-26700617, 26702132-26702133, 26702161-26702208, 26702234, 26702243, 26702248, 26702343-26702348, 26702356-26702394, 26702424-26702480, 26703157-26703179, 26703671, 26703675-26703697, 26703744-26703784, 26703826-26703829, 26703865-26703877, 26705275-26705281, 26705302-26705322, 26705431-26705433, 26705458-26705460, 26706390-26706400, 26707418-26707422 |
| 425 | XDH | 2 | 0.99775112443778 | 9 | 4002 | 31571186-31571194 |
| 426 | SPAST | 2 | 0.98001080497029 | 37 | 1851 | 32289020, 32289023, 32289182-32289216 |
| 427 | CYP1B1 | 2 | 0.94607843137255 | 88 | 1632 | 38301763-38301774, 38301983-38301989, 38302007-38302033, 38302177, 38302185-38302188, 38302191-38302212, 38302225-38302233, 38302416-38302421 |
| 428 | SOS1 | 2 | 0.99900049975012 | 4 | 4002 | 39224550-39224551, 39347524, 39347530 |
| 429 | ABCG5 | 2 | 0.99948875255624 | 1 | 1956 | 44055134 |
| 430 | ABCG8 | 2 | 0.78387734915925 | 437 | 2022 | 44078840-44078847, 44079508-44079514, 44079571, 44079821-44079822, 44079893-44079911, 44079983-44080007, 44099138-44099144, 44099151-44099154, 44099157, 44099183-44099215, 44099227-44099263, 44099362-44099382, 44099391-44099397, 44099417-44099445, 44100995-44101001, 44101059-44101100, 44101110-44101125, 44101574-44101618, 44102308-44102396, 44102472-44102496, 44102538-44102549 |
| 431 | LRPPRC | 2 | 0.97921146953405 | 87 | 4185 | 44128556-44128560, 44139602-44139608, 44200835, 44200839-44200841, 44202260, 44203329-44203350, 44209493, 44209500-44209501, 44209508, 44209549-44209573, 44222948-44222957, 44223041, 44223044-44223047, 44223083-44223086 |
| 432 | SIX3 | 2 | 0.99299299299299 | 7 | 999 | 45169391-45169393, 45169430-45169432, 45169782 |
| 433 | EPCAM | 2 | 0.96931216931217 | 29 | 945 | 47596645-47596673 |
| 434 | MSH6 | 2 | 0.98163115356356 | 75 | 4083 | 48010433-48010483, 48010509-48010519, 48010540-48010541, 48010551-48010552, 48010564, 48010570-48010575, 48010579, 48010587 |
| 435 | ATP6V1B1 | 2 | 0.99740596627756 | 4 | 1542 | 71192146-71192149 |
| 436 | DYSF | 2 | 0.99229559748428 | 49 | 6360 | 71780211-71780215, 71796961-71796963, 71825732-71825744, 71825747-71825750, 71827906, 71827918, 71829906-71829917, 71838597, 71838604-71838605, 71838685-71838686, 71839840-71839841, 71847698, 71847701, 71847724 |
| 437 | SPR | 2 | 0.84478371501272 | 122 | 786 | 73114596, 73114652-73114656, 73114666-73114692, 73114705-73114742, 73114763-73114803, 73114841-73114850 |
| 438 | ALMS1 | 2 | 0.99424184261036 | 72 | 12504 | 73613006-73613012, 73613023-73613074, 73679370-73679373, 73679717, 73827996-73828002, 73828342 |
| 439 | MOGS | 2 | 0.76531424025457 | 590 | 2514 | 74688405-74688417, 74688454-74688461, 74688484-74688517, 74688554-74688556, 74688569-74688570, 74688581-74688582, 74688723-74688724, 74688768-74688771, 74688807-74688839, 74688873, 74688882-74688885, 74688895, 74688915, 74688929-74688992, 74689002-74689033, 74689056-74689099, 74689145-74689191, 74689223-74689232, 74689250-74689280, 74689311-74689328, 74689403-74689404, 74689549, 74689569, 74689681-74689724, 74689782-74689785, 74689798, 74689810-74689813, 74689830-74689857, 74689869-74689870, 74689900-74689918, 74689984, 74689993, 74691736, 74692029, 74692106-74692108, 74692111-74692122, 74692125-74692132, 74692135, 74692151-74692198, 74692271, 74692317-74692321, 74692327-74692374 |
| 440 | HTRA2 | 2 | 0.98620188816267 | 19 | 1377 | 74757245-74757263 |
| 441 | SUCLG1 | 2 | 0.98559077809798 | 15 | 1041 | 84686316-84686330 |
| 442 | GGCX | 2 | 0.99780412823891 | 5 | 2277 | 85788021, 85788108, 85788525-85788526, 85788530 |
| 443 | REEP1 | 2 | 0.9983498349835 | 1 | 606 | 86564633 |
| 444 | EIF2AK3 | 2 | 0.99104744852283 | 30 | 3351 | 88926560, 88926671, 88926730-88926737, 88926742-88926751, 88926772, 88926780-88926788 |
| 445 | TMEM127 | 2 | 0.92608089260809 | 53 | 717 | 96930931-96930939, 96931035, 96931071-96931113 |
| 446 | ZAP70 | 2 | 0.98817204301075 | 22 | 1860 | 98340597-98340606, 98340872-98340883 |
| 447 | RANBP2 | 2 | 0.92899224806202 | 687 | 9675 | 109345588-109345589, 109347230-109347253, 109347853-109347859, 109352023-109352052, 109352069-109352118, 109352188, 109357110-109357137, 109365376-109365394, 109365401-109365439, 109365452-109365490, 109367720-109367740, 109367754, 109368104-109368110, 109368437, 109369464-109369492, 109369966, 109370306-109370352, 109370387-109370401, 109371385-109371403, 109371632-109371638, 109371656-109371690, 109378557-109378565, 109378582-109378628, 109383075-109383091, 109383187-109383231, 109383271, 109383328-109383360, 109383569, 109383888, 109383905, 109384264-109384298, 109384504-109384529, 109384620-109384668 |
| 448 | PAX8 | 2 | 0.99039172209904 | 13 | 1353 | 113994195-113994207 |
| 449 | GLI2 | 2 | 0.92606595253098 | 352 | 4761 | 121709006-121709021, 121728013-121728023, 121729540-121729554, 121729639, 121745803-121745815, 121745821, 121745991-121745993, 121745996, 121746077-121746101, 121746174-121746241, 121746248-121746283, 121746305-121746307, 121746318-121746323, 121746329-121746355, 121746382-121746420, 121746499-121746503, 121746508-121746519, 121746534-121746541, 121746686-121746694, 121746770-121746789, 121747041-121747050, 121747483-121747490, 121747657-121747659, 121747665-121747666, 121747689-121747698 |
| 450 | BIN1 | 2 | 0.96801346801347 | 57 | 1782 | 127806115, 127864436-127864470, 127864499-127864519 |
| 451 | PROC | 2 | 0.91630591630592 | 116 | 1386 | 128177521-128177534, 128178869, 128178932, 128180493-128180517, 128180624-128180643, 128180659-128180698, 128180726-128180727, 128180739-128180741, 128180862, 128180962-128180967, 128185939-128185940, 128185944 |
| 452 | CFC1 | 2 | 0.77678571428571 | 150 | 672 | 131279429-131279435, 131279530-131279532, 131279699, 131280363-131280397, 131280411, 131280416, 131280439-131280443, 131280447, 131280742-131280762, 131280779, 131280791-131280835, 131285298-131285322, 131285375-131285377, 131285381 |
| 453 | LCT | 2 | 0.99706085753804 | 17 | 5784 | 136558242-136558244, 136566515-136566517, 136567444-136567451, 136567458, 136570396, 136575534 |
| 454 | NEB | 2 | 0.9989986983078 | 20 | 19974 | 152402512, 152432788-152432805, 152487229 |
| 455 | GALNT3 | 2 | 0.99947423764458 | 1 | 1902 | 166626905 |
| 456 | ITGA6 | 2 | 0.99664224664225 | 11 | 3276 | 173292519-173292529 |
| 457 | HOXD13 | 2 | 0.98352713178295 | 17 | 1032 | 176957679-176957684, 176957724-176957730, 176957825-176957828 |
| 458 | PRKRA | 2 | 0.95753715498938 | 40 | 942 | 179315714-179315753 |
| 459 | TTN | 2 | 0.99991022264783 | 9 | 100248 | 179412708, 179634826-179634833 |
| 460 | CERKL | 2 | 0.98499061913696 | 24 | 1599 | 182468573-182468576, 182468624-182468629, 182468693-182468706 |
| 461 | COL3A1 | 2 | 0.99977277891388 | 1 | 4401 | 189850403 |
| 462 | COL5A2 | 2 | 0.99933333333333 | 3 | 4500 | 189932796-189932798 |
| 463 | HSPD1 | 2 | 0.98548199767712 | 25 | 1722 | 198351826-198351843, 198351876-198351882 |
| 464 | BMPR2 | 2 | 0.99967917869747 | 1 | 3117 | 203332346 |
| 465 | CYP27A1 | 2 | 0.9968671679198 | 5 | 1596 | 219679353, 219679717, 219679731-219679733 |
| 466 | WNT10A | 2 | 0.96172248803828 | 48 | 1254 | 219745756, 219745761, 219745816, 219757535-219757549, 219757613, 219757772-219757775, 219757786, 219757797, 219757866, 219757870-219757872, 219757882-219757884, 219757905-219757920 |
| 467 | DES | 2 | 0.99221514508139 | 11 | 1413 | 220283236-220283243, 220283707-220283709 |
| 468 | OBSL1 | 2 | 0.84554559831313 | 879 | 5691 | 220416251-220416267, 220416293-220416318, 220416406, 220416433, 220416494, 220416835-220416864, 220416869-220416877, 220416882-220416897, 220416911, 220417301-220417344, 220417370-220417419, 220417597, 220417612-220417618, 220417631, 220417644-220417650, 220417669-220417685, 220417745-220417746, 220418384, 220419221-220419223, 220419229, 220419241-220419246, 220419451-220419462, 220420785, 220420805, 220421329, 220421444-220421445, 220422565, 220423037-220423044, 220424202, 220427137-220427139, 220427336, 220427395, 220428118-220428124, 220431698, 220431751, 220432128-220432135, 220432801, 220432849, 220432905-220432940, 220434975-220434977, 220434996, 220435000, 220435029-220435037, 220435047-220435092, 220435198-220435204, 220435239-220435244, 220435274-220435280, 220435290-220435319, 220435324-220435330, 220435346, 220435359, 220435381-220435428, 220435478-220435484, 220435489-220435491, 220435496, 220435515-220435542, 220435560-220435596, 220435602-220435721, 220435728-220435789, 220435798, 220435801-220435817, 220435826-220435883, 220435906-220435954 |
| 469 | SLC19A3 | 2 | 0.99664654594232 | 5 | 1491 | 228563534-228563538 |
| 470 | CHRND | 2 | 0.94272844272844 | 89 | 1554 | 233390928-233390966, 233394649-233394650, 233394712, 233396104-233396114, 233396252-233396285, 233396349-233396350 |
| 471 | CHRNG | 2 | 0.99292149292149 | 11 | 1554 | 233409482-233409483, 233409600-233409608 |
| 472 | COL6A3 | 2 | 0.99832179567862 | 16 | 9534 | 238303314-238303318, 238303438-238303443, 238303490-238303494 |
| 473 | AGXT | 2 | 0.89058524173028 | 129 | 1179 | 241808293-241808298, 241808335, 241808351-241808361, 241808369-241808386, 241808394-241808445, 241808641-241808654, 241808704-241808710, 241810088-241810092, 241810102-241810109, 241810116-241810117, 241816966-241816969, 241816982 |
| 474 | D2HGDH | 2 | 0.88314176245211 | 183 | 1566 | 242674667-242674676, 242689610-242689614, 242689664, 242689676-242689678, 242689682-242689687, 242689692-242689706, 242690675, 242695264-242695267, 242695356-242695357, 242695402, 242695413-242695428, 242707125-242707133, 242707185-242707236, 242707266, 242707304-242707336, 242707341, 242707350-242707372 |
| 475 | AVP | 20 | 0.71717171717172 | 140 | 495 | 3063316, 3063332-3063378, 3063388-3063438, 3063628-3063668 |
| 476 | PRNP | 20 | 0.99081364829396 | 7 | 762 | 4680028-4680034 |
| 477 | JAG1 | 20 | 0.98605414273995 | 51 | 3657 | 10653398, 10653479, 10653548-10653568, 10653574-10653596, 10653621-10653625 |
| 478 | THBD | 20 | 0.99189814814815 | 14 | 1728 | 23029223-23029232, 23029460-23029461, 23029908-23029909 |
| 479 | SNTA1 | 20 | 0.78722002635046 | 323 | 1518 | 31996580-31996583, 31996600, 31996622, 31998084-31998093, 32000217-32000232, 32000382, 32000385, 32000400, 32000420-32000445, 32000561-32000581, 32031117-32031145, 32031166, 32031168-32031169, 32031171-32031214, 32031224-32031229, 32031246-32031249, 32031254-32031348, 32031350, 32031362-32031367, 32031370-32031422 |
| 480 | GDF5 | 20 | 0.99933598937583 | 1 | 1506 | 34025143 |
| 481 | HNF4A | 20 | 0.99929824561404 | 1 | 1425 | 43052819 |
| 482 | ADA | 20 | 0.90567765567766 | 103 | 1092 | 43252924-43252926, 43252970, 43254291, 43255108-43255115, 43257710-43257720, 43257744-43257789, 43280216-43280248 |
| 483 | CTSA | 20 | 0.91783567134269 | 123 | 1497 | 44519965-44519984, 44519998-44520005, 44520216, 44520221-44520223, 44520230-44520231, 44520238-44520240, 44520245-44520255, 44520261-44520267, 44520288-44520333, 44520353, 44520357-44520359, 44520650-44520656, 44521859, 44522661-44522662, 44526368-44526374, 44527070 |
| 484 | SLC2A10 | 20 | 0.99938499384994 | 1 | 1626 | 45354238 |
| 485 | SALL4 | 20 | 0.98829854522454 | 37 | 3162 | 50400977-50400994, 50401192, 50406779, 50407343, 50407402, 50408329-50408332, 50408340-50408348, 50408361, 50408375 |
| 486 | GNAS | 20 | 0.92547425474255 | 55 | 738 | 57415182-57415184, 57415322-57415341, 57415344, 57415603, 57415704-57415731, 57415782-57415783 |
| 487 | GNAS | 20 | 0.91811175337187 | 255 | 3114 | 57428967-57428968, 57428971, 57429091, 57429105-57429107, 57429156, 57429206-57429213, 57429257-57429276, 57429419-57429428, 57429444-57429451, 57429472-57429494, 57429505-57429508, 57429612-57429618, 57429639-57429697, 57429740-57429741, 57429777-57429783, 57429786-57429797, 57429865-57429867, 57429915-57429916, 57429982-57429995, 57430023-57430026, 57430078-57430126, 57430231, 57430234-57430236, 57430246-57430247, 57430368-57430369, 57430372-57430376, 57430385-57430386 |
| 488 | COL9A3 | 20 | 0.79464720194647 | 422 | 2055 | 61448417-61448494, 61448920-61448973, 61448982-61448987, 61449870-61449877, 61450627-61450629, 61451295-61451297, 61452533-61452549, 61453109-61453128, 61453463-61453468, 61453472-61453476, 61453943-61453948, 61455802-61455829, 61456320-61456373, 61457204-61457208, 61457558, 61457592-61457601, 61457605-61457609, 61458119-61458152, 61458166-61458169, 61458597-61458621, 61459297, 61459311-61459313, 61461712-61461727, 61461869-61461874, 61461907, 61461910-61461929, 61463522, 61468571, 61468574 |
| 489 | CHRNA4 | 20 | 0.083333333333333 | 1727 | 1884 | 61978090-61978191, 61978198-61978215, 61981014-61981816, 61981826-61981847, 61981867-61981982, 61981987, 61982028-61982156, 61982163-61982167, 61982182-61982217, 61982243, 61982246-61982253, 61982256-61982260, 61982269-61982345, 61982359-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517 |
| 490 | KCNQ2 | 20 | 0.13592974417717 | 2263 | 2619 | 62037997-62038249, 62038260-62038698, 62038704-62038728, 62039766-62039802, 62039822-62039835, 62039838-62039844, 62039850-62039889, 62044805-62044807, 62044810-62044901, 62044910-62044923, 62044934, 62045450-62045494, 62045514, 62045531-62045537, 62046265-62046387, 62046393-62046454, 62046479, 62050972-62050981, 62051003-62051010, 62055535-62055547, 62059720-62059788, 62062706, 62062717-62062722, 62065165, 62065188, 62065196-62065213, 62065248-62065256, 62069978-62070038, 62070071-62070073, 62070951-62071061, 62073759-62073767, 62073783-62073884, 62076012-62076187, 62076591-62076717, 62078100-62078166, 62078180-62078190, 62103521-62103816 |
| 491 | SOX18 | 20 | 0.077922077922078 | 1065 | 1155 | 62679523-62679649, 62679662-62679663, 62679673-62679690, 62679704, 62679714-62679784, 62679796-62679798, 62679805-62679812, 62679822-62679898, 62679905-62680245, 62680257-62680315, 62680512-62680869 |
| 492 | IFNGR2 | 21 | 0.94378698224852 | 57 | 1014 | 34775850-34775855, 34775872-34775922 |
| 493 | RCAN1 | 21 | 0.95783926218709 | 32 | 759 | 35987168-35987176, 35987200-35987222 |
| 494 | CLDN14 | 21 | 0.9375 | 45 | 720 | 37833449-37833456, 37833459, 37833463-37833468, 37833582-37833600, 37833888-37833890, 37833929-37833936 |
| 495 | TMPRSS3 | 21 | 0.98974358974359 | 14 | 1365 | 43796650-43796663 |
| 496 | CBS | 21 | 0.96256038647343 | 62 | 1656 | 44474009-44474016, 44476954, 44478274-44478280, 44478314-44478318, 44478965, 44480616, 44483157-44483171, 44485323-44485325, 44492152-44492171, 44492298 |
| 497 | CSTB | 21 | 0.97643097643098 | 7 | 297 | 45196094-45196100 |
| 498 | AIRE | 21 | 0.10622710622711 | 1464 | 1638 | 45705891-45706021, 45706441-45706457, 45706461-45706513, 45706523-45706524, 45706550-45706602, 45706609-45706614, 45706861-45706899, 45706924-45706988, 45706999-45707000, 45707016, 45707400-45707460, 45707471-45707474, 45708228-45708239, 45708250-45708254, 45708266-45708341, 45709540-45709542, 45709546, 45709549, 45709558-45709664, 45709678-45709685, 45709871-45709951, 45710978-45711093, 45712185-45712278, 45712876-45712913, 45712924-45713058, 45713672-45713681, 45713689-45713793, 45714284-45714386, 45716266-45716328, 45717539-45717610 |
| 499 | ITGB2 | 21 | 0.66320346320346 | 778 | 2310 | 46306335, 46306728-46306750, 46306776, 46308610-46308617, 46308625-46308639, 46308647-46308810, 46309198-46309227, 46309244-46309247, 46309306-46309372, 46309379-46309410, 46309893-46309912, 46309950-46309955, 46309961-46310044, 46310096-46310137, 46311724-46311802, 46311813, 46311833-46311837, 46311855, 46311859, 46311876-46311911, 46313319-46313340, 46313379-46313383, 46313407-46313417, 46313440-46313451, 46314914, 46319066-46319068, 46320248-46320260, 46320343-46320369, 46320374, 46321450-46321470, 46321641, 46326857-46326861, 46326869-46326872, 46326935, 46326977-46326993, 46330217-46330224, 46330240, 46330244-46330246, 46330267-46330268 |
| 500 | COL18A1 | 21 | 0.21861348528015 | 4114 | 5265 | 46875446-46875447, 46875462, 46875493-46875494, 46875497-46875512, 46875516, 46875522-46875525, 46875564, 46875567-46875568, 46875598, 46875601-46875602, 46875609-46875615, 46875628, 46875640-46875675, 46875694, 46875702-46875725, 46875737-46875740, 46875762-46875780, 46875821-46875873, 46875908, 46875932, 46875980-46875981, 46875986, 46875999, 46876038-46876060, 46876066-46876090, 46876100-46876146, 46876160, 46876172-46876195, 46876199, 46876210-46876213, 46876222-46876235, 46876249, 46876282-46876285, 46876291, 46876296, 46876306-46876337, 46876346-46876376, 46876396-46876450, 46876458, 46876493-46876795, 46888156-46888157, 46888177-46888182, 46888188-46888189, 46888201-46888239, 46888245-46888246, 46888255-46888266, 46888272-46888276, 46888285, 46888291-46888344, 46888354-46888360, 46888378-46888457, 46888463-46888468, 46888476, 46888481-46888482, 46888488, 46888500-46888589, 46888615-46888688, 46893809-46893854, 46895397-46895448, 46896267, 46896271, 46896275, 46896289-46896314, 46896359-46896383, 46897325-46897330, 46897346, 46897378-46897379, 46897664-46897668, 46897705-46897721, 46897763-46897830, 46897840, 46897843-46897868, 46898241-46898259, 46899816-46899878, 46899984-46900058, 46900381-46900403, 46900418-46900419, 46900614-46900625, 46900636-46900772, 46901878-46901917, 46901934-46901939, 46902709-46902714, 46902722-46902735, 46906775-46906906, 46907361-46907423, 46908332-46908358, 46909400-46909435, 46910189-46910260, 46910750-46910785, 46911139-46911228, 46912449-46912478, 46912601-46912627, 46913077-46913139, 46913415-46913489, 46914459-46914485, 46914776-46914829, 46915272-46915346, 46916414-46916482, 46916964-46917006, 46917513-46917575, 46923925-46923968, 46924330-46924470, 46925048-46925192, 46925272-46925345, 46925752-46925880, 46927475-46927507, 46929277-46929515, 46929978-46929980, 46929989-46930175, 46931025-46931140, 46932102-46932312 |
| 501 | COL6A1 | 21 | 0.73372206025267 | 822 | 3087 | 47401765-47401853, 47402548-47402645, 47402674, 47404183-47404200, 47404202, 47404226-47404330, 47404353-47404369, 47404383, 47406519, 47406524-47406536, 47406568-47406585, 47406858-47406859, 47406871, 47406879-47406880, 47406905, 47406908-47406909, 47406928-47406967, 47407069-47407083, 47407413-47407421, 47407524-47407553, 47407567, 47408998, 47409025-47409034, 47409534-47409538, 47410172-47410198, 47410292-47410336, 47411978-47411981, 47412093-47412107, 47412118, 47412662-47412692, 47414081-47414121, 47414135-47414142, 47417364-47417365, 47417397, 47417614-47417621, 47417632-47417666, 47418035-47418052, 47418064-47418085, 47418342-47418347, 47418835-47418836, 47418863-47418866, 47419086-47419096, 47419099, 47419574-47419579, 47422527-47422534, 47422569-47422575, 47423358, 47423453-47423456, 47423475-47423477, 47423486, 47423501-47423505, 47423509, 47423516, 47423530, 47423636, 47423716-47423722, 47423885-47423890, 47423897-47423903 |
| 502 | COL6A2 | 21 | 0.073856209150327 | 2834 | 3060 | 47531391-47531398, 47531406-47531502, 47531893-47531925, 47531945-47531947, 47531950-47531960, 47531977-47532095, 47532108-47532149, 47532175-47532180, 47532187-47532202, 47532205, 47532227-47532243, 47532253-47532256, 47532266-47532355, 47532373-47532491, 47532736-47532737, 47533922-47533964, 47535786-47535819, 47535834-47535839, 47535923-47535967, 47536291-47536317, 47536565-47536591, 47536684-47536725, 47537314-47537367, 47537788-47537850, 47538528-47538590, 47538944-47539033, 47539702-47539764, 47540429-47540491, 47540975-47541023, 47541034-47541037, 47541470-47541532, 47542022-47542072, 47542410-47542445, 47542789-47542851, 47544565-47544627, 47544799-47544834, 47545180-47545225, 47545379-47545531, 47545699-47545836, 47545846-47546151, 47546417-47546455, 47551868-47552466 |
| 503 | COL6A2 | 21 | 0 | 342 | 342 | 47552183-47552524 |
| 504 | FTCD | 21 | 0.0055350553505535 | 1617 | 1626 | 47556901-47556987, 47557157-47557248, 47558422-47558560, 47558794-47558827, 47558833-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570439, 47571472-47571651, 47571806-47571894, 47572821-47572949, 47574063-47574246, 47575384-47575437 |
| 505 | PCNT | 21 | 0.96773549095994 | 323 | 10011 | 47744143-47744155, 47744161-47744183, 47754510, 47754527, 47766689, 47766817-47766854, 47767401-47767402, 47769686-47769688, 47771394, 47786587-47786589, 47786621, 47786636, 47786638, 47786655, 47786765, 47801698-47801699, 47808784-47808785, 47817187-47817188, 47817192, 47817208, 47821594-47821595, 47831443-47831451, 47831454-47831455, 47831458, 47831464, 47831493, 47841944-47841949, 47842021-47842025, 47842037, 47847569, 47847624-47847647, 47847680-47847688, 47848335-47848380, 47848388-47848396, 47848408-47848490, 47850038, 47850068, 47850140, 47850501-47850502, 47851482-47851489, 47851802-47851803, 47851836-47851837, 47851842, 47851955-47851958, 47856013, 47863844 |
| 506 | PEX26 | 22 | 0.99237472766885 | 7 | 918 | 18561167-18561173 |
| 507 | PRODH | 22 | 0.86577925679423 | 242 | 1803 | 18901020-18901021, 18901028-18901030, 18904405-18904433, 18907042, 18907264-18907266, 18908875, 18908917-18908936, 18918540, 18918587-18918590, 18923528-18923572, 18923580, 18923583, 18923592, 18923595, 18923599, 18923606, 18923610-18923611, 18923617, 18923622-18923626, 18923645, 18923652, 18923662, 18923665-18923667, 18923676-18923787, 18923791 |
| 508 | GP1BB | 22 | 0 | 621 | 621 | 19711093-19711102, 19711377-19711987 |
| 509 | TBX1 | 22 | 0.43615591397849 | 839 | 1488 | 19747167-19747194, 19748428-19748708, 19748795-19748800, 19753281-19753337, 19753425-19753525, 19753912-19754049, 19754055-19754087, 19754100-19754138, 19754184-19754228, 19754240-19754260, 19754285, 19754289, 19754294-19754331, 19754341-19754390 |
| 510 | SMARCB1 | 22 | 0.99827288428325 | 2 | 1158 | 24129435, 24176365 |
| 511 | UPB1 | 22 | 0.98701298701299 | 15 | 1155 | 24906761, 24906768-24906781 |
| 512 | CHEK2 | 22 | 0.96536059057354 | 61 | 1761 | 29083906-29083916, 29083946-29083965, 29085160-29085175, 29091837-29091844, 29130518-29130523 |
| 513 | DRG1 | 22 | 0.9981884057971 | 2 | 1104 | 31796682-31796683 |
| 514 | TIMP3 | 22 | 0.99842767295597 | 1 | 636 | 33198012 |
| 515 | MYH9 | 22 | 0.99643039265681 | 21 | 5883 | 36697677, 36697691-36697697, 36698658, 36700093-36700101, 36712694-36712696 |
| 516 | TRIOBP | 22 | 0.9411101718794 | 418 | 7098 | 38109241-38109257, 38109397, 38119832, 38119891-38119897, 38119976-38119982, 38120022-38120052, 38120123-38120129, 38120297-38120303, 38121894-38121933, 38121969, 38122026-38122032, 38122242, 38122245, 38122285, 38122331, 38122451-38122488, 38129317-38129336, 38129344-38129370, 38129396-38129419, 38130406-38130433, 38130445, 38130448-38130450, 38130549-38130561, 38130597, 38130602-38130607, 38130630-38130667, 38130740-38130752, 38130892-38130901, 38130942-38130949, 38131073, 38131144, 38131185, 38131275-38131281, 38131345-38131354, 38131358-38131359, 38147780, 38147783-38147787, 38151557, 38153915-38153938, 38161762, 38165173-38165176 |
| 517 | SOX10 | 22 | 0.97073518915061 | 41 | 1401 | 38379382, 38379398, 38379401, 38379441-38379445, 38379457-38379458, 38379509-38379511, 38379635-38379651, 38379699, 38379736-38379745 |
| 518 | PLA2G6 | 22 | 0 | 489 | 489 | 38508274-38508312, 38508511-38508584, 38509494-38509869 |
| 519 | PLA2G6 | 22 | 0.49896736885584 | 1213 | 2421 | 38508168-38508312, 38508511-38508584, 38509494-38509661, 38511534-38511688, 38512082-38512218, 38516784-38516844, 38516854-38516916, 38519102-38519265, 38522378-38522414, 38522427-38522456, 38524295-38524308, 38524351-38524367, 38524403-38524406, 38524409, 38524414-38524418, 38524432-38524437, 38525465-38525478, 38525486, 38525501-38525504, 38525529-38525569, 38528869-38528908, 38528947-38528950, 38528962, 38531044-38531050, 38531088, 38536067, 38536078-38536088, 38536101-38536107 |
| 520 | TNFRSF13C | 22 | 0.25945945945946 | 411 | 555 | 42321380-42321427, 42321478-42321479, 42322105-42322335, 42322642-42322722, 42322729-42322777 |
| 521 | CYB5R3 | 22 | 0.97240618101545 | 25 | 906 | 43019885-43019888, 43045301-43045321 |
| 522 | ATXN10 | 22 | 0.99509803921569 | 7 | 1428 | 46068050-46068056 |
| 523 | TRMU | 22 | 0.83333333333333 | 211 | 1266 | 46731689, 46731695-46731734, 46731740-46731743, 46746264-46746277, 46746320-46746330, 46748189-46748191, 46749729-46749738, 46751351-46751355, 46751366-46751392, 46751416-46751419, 46751898-46751915, 46751921, 46751939-46751947, 46752761-46752771, 46752789-46752841 |
| 524 | ALG12 | 22 | 0.88070892978868 | 175 | 1467 | 50297991, 50303542, 50303628-50303649, 50303685, 50303721-50303734, 50304082-50304086, 50304093, 50304100-50304101, 50304113-50304122, 50304152-50304169, 50307134, 50307137, 50307165, 50307259-50307281, 50307323-50307387, 50307405-50307413 |
| 525 | MLC1 | 22 | 0.89770723104056 | 116 | 1134 | 50502495-50502508, 50502534-50502554, 50502568-50502569, 50502577, 50502582-50502591, 50502598-50502600, 50502621-50502625, 50508965-50508979, 50512663-50512681, 50512736-50512761 |
| 526 | SCO2 | 22 | 0.76279650436954 | 190 | 801 | 50962068-50962127, 50962317-50962323, 50962412-50962426, 50962495-50962526, 50962554, 50962557, 50962583-50962623, 50962646-50962662, 50962719, 50962775, 50962780-50962784, 50962798, 50962830, 50962834-50962840 |
| 527 | TYMP | 22 | 0.38440303657695 | 892 | 1449 | 50964199-50964347, 50964430-50964570, 50964675-50964893, 50964903-50964905, 50965005-50965006, 50965028-50965065, 50965086-50965167, 50965594-50965596, 50965608-50965652, 50965671, 50965692-50965694, 50965700-50965702, 50965705, 50965708-50965710, 50966123-50966140, 50967010-50967030, 50967626-50967647, 50967660-50967686, 50967742-50967746, 50967960, 50967964-50967966, 50967981-50968005, 50968026-50968053, 50968067-50968115 |
| 528 | ARSA | 22 | 0.94488188976378 | 84 | 1524 | 51063628-51063651, 51063655, 51063667, 51063674-51063683, 51063709-51063710, 51063763-51063766, 51063771, 51063799-51063800, 51063871, 51064392, 51064452, 51064467-51064471, 51064479-51064487, 51065368-51065370, 51066039-51066057 |
| 529 | SHANK3 | 22 | 0.38710907704043 | 3214 | 5244 | 51113070-51113132, 51113476-51113679, 51115052-51115075, 51115107-51115121, 51117013-51117121, 51117200-51117348, 51117447-51117607, 51117740-51117856, 51121768-51121845, 51123013-51123079, 51133225-51133265, 51133287-51133293, 51133318-51133319, 51133330-51133333, 51133350-51133392, 51133454-51133456, 51133459-51133470, 51135671-51135719, 51135951-51136143, 51137118-51137133, 51137188-51137206, 51142347, 51142351, 51142600-51142601, 51142630, 51143166-51143168, 51143184-51143203, 51143256-51143290, 51143428-51143461, 51143504-51143505, 51144506-51144528, 51144554-51144580, 51158612-51158662, 51158672-51158673, 51158694-51159126, 51159137-51159158, 51159166-51159388, 51159409-51159423, 51159438-51159476, 51159485-51159528, 51159583-51159589, 51159596-51159649, 51159656-51159689, 51159772-51159794, 51159806, 51159809, 51159904-51159908, 51159925-51159930, 51159941-51159945, 51159986, 51159990-51160009, 51160012, 51160054-51160076, 51160115, 51160135, 51160142, 51160207-51160224, 51160229, 51160233, 51160287-51160335, 51160361, 51160374, 51160405, 51160426-51160429, 51160469-51160487, 51160530, 51160533, 51160555-51160605, 51160618, 51160639, 51160653-51160675, 51160695-51160699, 51160774-51160799, 51160828, 51169151-51169247, 51169253-51169294, 51169312-51169363, 51169375-51169382, 51169395-51169398, 51169415-51169435, 51169444, 51169460-51169504, 51169514-51169583, 51169599-51169604, 51169607-51169614, 51169624-51169740 |
| 530 | FANCD2 | 3 | 0.98573369565217 | 63 | 4416 | 10088264-10088311, 10132062-10132065, 10135985-10135991, 10140455-10140458 |
| 531 | VHL | 3 | 0.92211838006231 | 50 | 642 | 10183633, 10183679-10183717, 10183847-10183856 |
| 532 | WNT7A | 3 | 0.99238095238095 | 8 | 1050 | 13921247, 13921289-13921295 |
| 533 | CRTAP | 3 | 0.98673300165837 | 16 | 1206 | 33155710-33155711, 33155781-33155786, 33155904-33155909, 33155914, 33155919 |
| 534 | SCN5A | 3 | 0.99609441331296 | 23 | 5889 | 38616797-38616809, 38616902-38616910, 38651400 |
| 535 | TMIE | 3 | 0.79084967320261 | 96 | 459 | 46742890-46742894, 46742906-46742909, 46742924-46742933, 46742943, 46742955-46742971, 46743013-46743034, 46743042-46743070, 46747321-46747328 |
| 536 | TMIE | 3 | 0.86836518046709 | 62 | 471 | 46743013-46743034, 46743042-46743070, 46747321-46747328, 46751074-46751076 |
| 537 | MYL3 | 3 | 0.99829931972789 | 1 | 588 | 46902218 |
| 538 | TREX1 | 3 | 0.96486486486486 | 39 | 1110 | 48508053-48508065, 48508100, 48508103, 48508273-48508286, 48508325-48508328, 48508879-48508884 |
| 539 | COL7A1 | 3 | 0.74714204867006 | 2234 | 8835 | 48606236, 48607055-48607056, 48607069-48607071, 48607075-48607076, 48607079-48607080, 48607313-48607316, 48607570-48607576, 48607763-48607765, 48607898-48607910, 48608075, 48608311-48608330, 48608385-48608392, 48608534-48608537, 48610107-48610124, 48610160, 48610165-48610172, 48610371-48610372, 48610470-48610472, 48610475, 48610607-48610615, 48610753, 48610770, 48610946-48610955, 48610967-48610990, 48611123-48611126, 48611148-48611158, 48611288, 48611735, 48611976-48611978, 48612110-48612115, 48612154, 48612233, 48612262-48612265, 48612497-48612504, 48612539-48612542, 48612545, 48612652-48612675, 48612772-48612803, 48612822-48612881, 48612889-48612898, 48612905-48612972, 48613061-48613080, 48613090-48613128, 48613133, 48613152-48613181, 48613694, 48613719-48613728, 48613847-48613868, 48613956-48613990, 48614109-48614112, 48614143-48614152, 48614182, 48614194-48614197, 48614329-48614352, 48614435-48614445, 48615754-48615798, 48615918-48615943, 48616354-48616374, 48616636-48616649, 48616693-48616695, 48616802-48616837, 48616916-48616948, 48617038, 48617043-48617101, 48617221-48617247, 48617468, 48617484-48617490, 48617747-48617748, 48617773-48617777, 48618033, 48618343, 48618580-48618586, 48618693-48618703, 48618756-48618773, 48618888, 48619006, 48619032-48619042, 48619172-48619173, 48619355, 48619360-48619367, 48619756-48619779, 48619911-48619946, 48620042-48620052, 48620086, 48620481, 48620560-48620604, 48620847, 48621028-48621048, 48621161-48621174, 48621345-48621365, 48621749-48621808, 48621945, 48621974-48621989, 48622370-48622378, 48622469-48622478, 48622528-48622530, 48622533-48622549, 48623005, 48623018-48623052, 48623136-48623167, 48623263-48623264, 48623275-48623289, 48623373-48623383, 48623507-48623522, 48623550-48623573, 48623592-48623602, 48623606-48623610, 48623623, 48623631, 48623634, 48623670, 48623673-48623677, 48623765-48623813, 48623855-48623895, 48624008-48624017, 48624082-48624100, 48624105-48624107, 48624121, 48624420-48624454, 48624463-48624503, 48624538-48624541, 48624632-48624655, 48624689-48624693, 48624705, 48624715, 48624759-48624765, 48624906-48624962, 48624970-48624987, 48625226-48625252, 48625257-48625260, 48625272-48625273, 48625293-48625324, 48625343-48625345, 48625358-48625365, 48625371, 48625716-48625766, 48625780, 48625784-48625797, 48625832-48625834, 48626075-48626085, 48626109-48626114, 48626119-48626134, 48626157-48626193, 48626205-48626208, 48626303-48626312, 48626323-48626382, 48626390-48626406, 48626411, 48626425-48626428, 48626760-48626768, 48626775-48626777, 48626795, 48626815, 48626822-48626827, 48626882-48626888, 48626901-48626903, 48627032-48627043, 48627046-48627151, 48627654, 48627662-48627668, 48627683, 48627689, 48627694-48627722, 48627734, 48627982, 48628014, 48628142, 48628145, 48628953-48628961, 48629138, 48629830, 48629883-48629885, 48630218, 48630227-48630228, 48630233, 48630619, 48632559-48632560 |
| 540 | LAMB2 | 3 | 0.9757272558829 | 131 | 5397 | 49160271-49160275, 49160348-49160355, 49160759-49160760, 49161186-49161189, 49162002-49162035, 49162460-49162475, 49162688-49162697, 49162751-49162758, 49167073, 49167390-49167397, 49167439, 49167839-49167852, 49169120-49169137, 49170093-49170094 |
| 541 | AMT | 3 | 0.85808580858086 | 172 | 1212 | 49454980, 49455036-49455040, 49455390-49455406, 49456466-49456513, 49456773-49456803, 49458981-49458982, 49459537-49459546, 49459597-49459629, 49459680-49459690, 49459796, 49459825, 49459830, 49459873-49459883 |
| 542 | GNAT1 | 3 | 0.94586894586895 | 57 | 1053 | 50231011, 50231015-50231016, 50231219, 50231222, 50231542-50231567, 50231623, 50231634-50231637, 50231647, 50232034, 50232082, 50232322-50232339 |
| 543 | HYAL1 | 3 | 0.9151376146789 | 111 | 1308 | 50337929, 50337940, 50338053, 50338127-50338163, 50338187-50338228, 50338472, 50338477-50338492, 50338499, 50339601-50339606, 50339618, 50339638, 50339841, 50339996, 50340000 |
| 544 | TNNC1 | 3 | 0.91152263374486 | 43 | 486 | 52485304, 52485790, 52485793, 52485804-52485813, 52486218-52486237, 52486245-52486251, 52486520, 52486528-52486529 |
| 545 | TKT | 3 | 0.99839743589744 | 3 | 1872 | 53263047-53263049 |
| 546 | FLNB | 3 | 0.99897554104239 | 8 | 7809 | 58080659-58080663, 58139303, 58141696-58141697 |
| 547 | ATXN7 | 3 | 0.92036645525018 | 226 | 2838 | 63898275-63898295, 63898303-63898346, 63898351, 63898432-63898571, 63898577-63898596 |
| 548 | ARL13B | 3 | 0.89199689199689 | 139 | 1287 | 93761859-93761868, 93761901-93761951, 93761981-93762042, 93762069-93762084 |
| 549 | CPOX | 3 | 0.92307692307692 | 105 | 1365 | 98312144, 98312181-98312196, 98312203-98312250, 98312280-98312319 |
| 550 | CASR | 3 | 0.99938214396046 | 2 | 3237 | 122003497-122003498 |
| 551 | ACAD9 | 3 | 0.93086816720257 | 129 | 1866 | 128615279-128615304, 128621396-128621416, 128621439-128621459, 128622905-128622912, 128622961-128622975, 128623269-128623270, 128627088-128627089, 128627103, 128627863-128627874, 128627930, 128627933, 128628187-128628199, 128628250-128628254, 128628967 |
| 552 | RHO | 3 | 0.95988538681948 | 42 | 1047 | 129251120-129251126, 129251376-129251397, 129251475, 129251598, 129252458-129252460, 129252469, 129252472-129252478 |
| 553 | NPHP3 | 3 | 0.99123466065615 | 35 | 3993 | 132438560-132438566, 132441003-132441005, 132441044, 132441118-132441127, 132441168-132441181 |
| 554 | FOXL2 | 3 | 0.94429708222812 | 63 | 1131 | 138664838-138664898, 138665128, 138665378 |
| 555 | HPS3 | 3 | 0.99867330016584 | 4 | 3015 | 148847558-148847561 |
| 556 | GHSR | 3 | 0.99909173478656 | 1 | 1101 | 172166103 |
| 557 | EIF2B5 | 3 | 0.99907663896584 | 2 | 2166 | 183862473-183862474 |
| 558 | ALG3 | 3 | 0.93697798025816 | 83 | 1317 | 183961390-183961399, 183961661, 183966595-183966642, 183966654-183966669, 183966676-183966681, 183966693, 183966715 |
| 559 | CLCN2 | 3 | 0.99147200593252 | 23 | 2697 | 184070929, 184071158-184071160, 184071963-184071965, 184072060-184072064, 184072375-184072381, 184076087-184076090 |
| 560 | CPN2 | 3 | 0.69047619047619 | 507 | 1638 | 194061813-194061842, 194061868-194061870, 194061874-194061875, 194061921-194061990, 194062075-194062117, 194062147-194062178, 194062182-194062210, 194062224-194062245, 194062298-194062327, 194062356-194062382, 194062399-194062425, 194062507-194062515, 194062518-194062519, 194062565, 194062688-194062722, 194062798-194062821, 194062855-194062872, 194062937, 194062970-194063007, 194063013-194063018, 194063021-194063022, 194063102-194063103, 194063153, 194063160-194063168, 194063227-194063252, 194063257, 194063289-194063295, 194063306-194063308, 194063327-194063333 |
| 561 | PDE6B | 4 | 0.69083820662768 | 793 | 2565 | 619416, 619448, 619463, 619468-619469, 619474, 619507-619600, 619660, 619678, 619723, 619791-619802, 619812-619883, 647641, 647647-647655, 647687-647688, 647696-647714, 647728-647731, 647738-647781, 647869-647943, 648613-648633, 648643, 648662, 648671, 649732-649759, 649772-649795, 650034-650037, 650045-650069, 650723-650727, 650769-650772, 650781, 650784, 650793, 650808-650812, 651140-651283, 652741-652747, 652758-652791, 654308-654314, 655933-655938, 655989-655997, 656007-656008, 656340-656368, 656392-656407, 656889-656901, 657571, 657991-658010, 659046-659059, 659065-659078, 659105-659106, 660396-660403, 663835, 663851-663852, 663856 |
| 562 | IDUA | 4 | 0.094291539245668 | 1777 | 1962 | 980873-981030, 981597-981737, 994414, 994445-994466, 994474-994485, 994670-994777, 995256-995269, 995275-995307, 995337-995351, 995468-995469, 995473-995487, 995498-995618, 995626-995663, 995770-995848, 995852, 995868-995949, 996057-996123, 996143-996273, 996520-996732, 996824-996945, 997133-997258, 997337-997413, 997810-997879, 997887-997893, 998049-998053, 998058-998121, 998129-998181 |
| 563 | FGFR3 | 4 | 0.51421508034611 | 1179 | 2427 | 1795662-1795763, 1800981-1801039, 1801061-1801250, 1801474-1801499, 1803094-1803096, 1803101, 1803113, 1803117-1803123, 1803133-1803182, 1803196-1803197, 1803202-1803226, 1803244-1803263, 1803347-1803370, 1803404-1803405, 1803419-1803421, 1803433-1803435, 1803438-1803470, 1803564-1803648, 1803658-1803665, 1803678-1803718, 1803731, 1803736, 1803748-1803752, 1804716-1804742, 1804755-1804756, 1804787-1804791, 1806065-1806067, 1806083, 1806137-1806158, 1806213, 1806218, 1806242, 1806580-1806611, 1806630-1806687, 1807092-1807141, 1807176-1807185, 1807189-1807194, 1807197, 1807293-1807294, 1807331-1807347, 1807366, 1807373-1807389, 1807477-1807481, 1807494, 1807502, 1807524-1807553, 1807612-1807654, 1807881-1807882, 1807893-1807894, 1807984, 1807988, 1808005, 1808037-1808054, 1808334, 1808352, 1808364-1808365, 1808575, 1808581-1808583, 1808587-1808598, 1808629-1808645, 1808843-1808844, 1808862-1808918, 1808949-1808950, 1808963-1808989 |
| 564 | SH3BP2 | 4 | 0.88852988691438 | 207 | 1857 | 2819960-2819997, 2820030-2820054, 2820065-2820088, 2820111-2820117, 2826443-2826445, 2826448-2826450, 2831568, 2831733-2831741, 2831804-2831822, 2833363, 2833660-2833665, 2833674-2833685, 2834097-2834117, 2834733, 2834760-2834762, 2835490-2835506, 2835518-2835534 |
| 565 | HTT | 4 | 0.96075935942306 | 370 | 9429 | 3076553-3076559, 3076581-3076603, 3076604-3076792, 3076805-3076809, 3182362, 3213790, 3231699, 3231702-3231707, 3234956-3234977, 3234980, 3237037-3237039, 3240250, 3240285-3240327, 3240545-3240553, 3240589-3240602, 3240627-3240636, 3241582-3241593, 3241632, 3241638, 3241733-3241737, 3241749-3241754, 3241778-3241786 |
| 566 | DOK7 | 4 | 0.2990099009901 | 1062 | 1515 | 3465103-3465156, 3465233-3465278, 3475133-3475166, 3475170-3475171, 3475193, 3475198-3475199, 3475202-3475260, 3475284-3475320, 3475353, 3475357-3475363, 3478074-3478134, 3478149-3478234, 3478257-3478259, 3478263-3478268, 3487266-3487310, 3487321, 3487327-3487346, 3487367, 3494534-3494569, 3494578, 3494580-3494587, 3494596-3494659, 3494681-3494932, 3494942-3495170, 3495210-3495212, 3495226-3495228 |
| 567 | DOK7 | 4 | 0.15566835871404 | 499 | 591 | 3494534-3494569, 3494578, 3494580-3494587, 3494596-3494659, 3494681-3494932, 3494942-3495079 |
| 568 | EVC2 | 4 | 0.98930481283422 | 42 | 3927 | 5570242, 5578150, 5710029, 5710122-5710160 |
| 569 | EVC | 4 | 0.9795233299765 | 61 | 2979 | 5713110-5713130, 5713178-5713214, 5713256, 5755632, 5755635 |
| 570 | WFS1 | 4 | 0.96745230078563 | 87 | 2673 | 6279213-6279216, 6279241, 6279245-6279257, 6279287-6279299, 6279323-6279330, 6279334-6279347, 6279385-6279397, 6279400, 6292950-6292956, 6293696-6293697, 6293717-6293724, 6302707, 6303451, 6303955 |
| 571 | CNGA1 | 4 | 0.99254385964912 | 17 | 2280 | 47973052-47973068 |
| 572 | CDS1 | 4 | 0.998556998557 | 2 | 1386 | 85504612-85504613 |
| 573 | PKD2 | 4 | 0.97420020639835 | 75 | 2907 | 88928898-88928917, 88928931, 88928943-88928946, 88928950-88928954, 88928958-88928983, 88928998-88929000, 88929083-88929098 |
| 574 | CISD2 | 4 | 0.91911764705882 | 33 | 408 | 103806452-103806454, 103808512-103808522, 103808569-103808587 |
| 575 | HADH | 4 | 0.9989417989418 | 1 | 945 | 108911201 |
| 576 | CFI | 4 | 0.99714611872146 | 5 | 1752 | 110723111-110723115 |
| 577 | FGB | 4 | 0.99728997289973 | 4 | 1476 | 155484202, 155484208, 155484215-155484216 |
| 578 | GK | 4 | 0.96510228640193 | 58 | 1662 | 166199284-166199290, 166199358-166199364, 166199422-166199432, 166199512-166199518, 166199558-166199569, 166199603-166199609, 166200757-166200763 |
| 579 | SLC25A4 | 4 | 0.99888517279822 | 1 | 897 | 186064630 |
| 580 | SDHA | 5 | 0.88872180451128 | 222 | 1995 | 218471, 218480, 218489, 218497-218533, 224630-224636, 231107-231115, 236646-236681, 251108-251149, 251500-251545, 254571-254612 |
| 581 | SLC6A19 | 5 | 0.29396325459318 | 1345 | 1905 | 1201766-1201967, 1208864-1208889, 1208902-1208911, 1208916-1208926, 1208932, 1208935-1208943, 1208951-1208953, 1208955-1208989, 1208995-1209001, 1210559-1210696, 1212418-1212449, 1212462-1212475, 1212479-1212517, 1212546-1212598, 1213578-1213682, 1214068-1214180, 1216673-1216733, 1216759-1216763, 1216771-1216801, 1216904-1216936, 1216948-1216991, 1217007-1217010, 1217021-1217034, 1217043-1217047, 1217060, 1219018-1219111, 1219120-1219167, 1219192-1219222, 1219620-1219646, 1219674-1219779, 1221274-1221297, 1221367-1221369, 1221419-1221428, 1221903, 1221914, 1221922, 1221977-1221978, 1222001 |
| 582 | TERT | 5 | 0.18917328626066 | 2756 | 3399 | 1253843-1253861, 1253889-1253922, 1253929-1253934, 1253943-1253946, 1254483-1254493, 1254509, 1254513, 1254518-1254545, 1254551-1254553, 1254560-1254593, 1254604-1254613, 1254620, 1255410-1255437, 1255459-1255520, 1258713-1258738, 1258745-1258755, 1258760, 1258772-1258773, 1260593-1260628, 1260669-1260685, 1264519-1264624, 1264630-1264651, 1264674-1264685, 1264690, 1264696, 1264707, 1266579-1266633, 1266643-1266650, 1268635, 1268648-1268748, 1271234-1271319, 1272300-1272395, 1278756-1278789, 1278815-1278825, 1278838-1278840, 1278863, 1278878, 1278887, 1278898-1278911, 1279406-1279585, 1280281-1280453, 1282557, 1282574-1282579, 1282584-1282589, 1282603-1282682, 1282711-1282735, 1293428-1293434, 1293437-1293499, 1293510-1293532, 1293556-1293662, 1293672-1293787, 1293796-1293812, 1293819-1293854, 1293872-1294072, 1294082-1294135, 1294149, 1294158, 1294161, 1294176-1294177, 1294184-1294190, 1294203-1294204, 1294213-1294229, 1294248-1294251, 1294258-1294444, 1294452-1294781, 1294886-1295104 |
| 583 | SLC6A3 | 5 | 0.85668276972625 | 267 | 1863 | 1401075-1401089, 1406322-1406339, 1406347-1406360, 1406366-1406373, 1406402, 1409141-1409162, 1409172-1409179, 1409201-1409202, 1409205-1409232, 1409842-1409852, 1409895-1409904, 1409911, 1409916, 1409918, 1409929-1409937, 1409950-1409954, 1409959-1409964, 1411358-1411376, 1411380, 1411385, 1411390, 1414808-1414812, 1414866-1414875, 1420685-1420705, 1420798-1420818, 1422013-1422024, 1422059, 1422071-1422085 |
| 584 | SDHA | 5 | 0.85932721712538 | 46 | 327 | 1594510-1594517, 1594528-1594565 |
| 585 | NDUFS6 | 5 | 0.872 | 48 | 375 | 1801532-1801533, 1801565-1801604, 1801633-1801636, 1801662-1801663 |
| 586 | CCT5 | 5 | 0.99938499384994 | 1 | 1626 | 10250537 |
| 587 | DNAH5 | 5 | 0.99877477477477 | 17 | 13875 | 13916503-13916519 |
| 588 | NDUFAF2 | 5 | 0.98039215686275 | 10 | 510 | 60394822-60394830, 60394835 |
| 589 | SMN2 | 5 | 0.97401129943503 | 23 | 885 | 69362946-69362961, 69372350-69372356 |
| 590 | SMN2 | 5 | 0.9819209039548 | 16 | 885 | 70238370-70238385 |
| 591 | HEXB | 5 | 0.99281867145422 | 12 | 1671 | 73981122-73981126, 73981130-73981133, 73981148-73981150 |
| 592 | RASA1 | 5 | 0.98854961832061 | 36 | 3144 | 86670021-86670056 |
| 593 | GPR98 | 5 | 0.99994714867079 | 1 | 18921 | 90144570 |
| 594 | HSD17B4 | 5 | 0.99954771596563 | 1 | 2211 | 118835134 |
| 595 | LMNB1 | 5 | 0.95173197047132 | 85 | 1761 | 126113201-126113212, 126113263, 126113278, 126113325-126113327, 126113337, 126113362-126113366, 126113403-126113409, 126113445-126113449, 126113460-126113505, 126168413, 126168434-126168436 |
| 596 | SLC22A5 | 5 | 0.97610513739546 | 40 | 1674 | 131705751, 131705823, 131705826, 131705877, 131705913-131705916, 131705937-131705953, 131705958-131705972 |
| 597 | MYOT | 5 | 0.99933199732799 | 1 | 1497 | 137221863 |
| 598 | SIL1 | 5 | 0.98340548340548 | 23 | 1386 | 138282806-138282807, 138282925, 138283022-138283031, 138283106-138283115 |
| 599 | TCOF1 | 5 | 0.95592286501377 | 192 | 4356 | 149737310-149737313, 149737359-149737411, 149748348-149748351, 149748366-149748402, 149755853, 149758845, 149767465-149767471, 149767633-149767651, 149769527-149769528, 149769530-149769532, 149776025-149776061, 149776143-149776165, 149778008 |
| 600 | NIPAL4 | 5 | 0.99643112062812 | 5 | 1401 | 156887228-156887229, 156887234-156887236 |
| 601 | NKX2-5 | 5 | 0.93333333333333 | 65 | 975 | 172659897-172659922, 172660027-172660031, 172660073, 172660084-172660092, 172660130-172660138, 172661864, 172661973-172661986 |
| 602 | MSX2 | 5 | 0.80721393034826 | 155 | 804 | 174151663-174151681, 174151735-174151758, 174151767-174151768, 174151795-174151804, 174151827-174151868, 174151878-174151880, 174151895-174151914, 174151920-174151939, 174151963-174151969, 174151979-174151982, 174156168, 174156252, 174156358-174156359 |
| 603 | F12 | 5 | 0.97250859106529 | 16 | 582 | 176829635-176829639, 176830262-176830264, 176830273, 176830309-176830315 |
| 604 | F12 | 5 | 0.90097402597403 | 183 | 1848 | 176829635-176829639, 176830262-176830264, 176830273, 176830309-176830315, 176830506-176830536, 176830564-176830602, 176830877-176830878, 176830882-176830895, 176830927-176830974, 176831071-176831091, 176831302-176831303, 176831591, 176831594, 176831611, 176831820-176831826 |
| 605 | NHP2 | 5 | 0.92424242424242 | 35 | 462 | 177576714-177576732, 177580494, 177580498-177580499, 177580552, 177580682-177580691, 177580798, 177580818 |
| 606 | GRM6 | 5 | 0.99012908124525 | 26 | 2634 | 178408660-178408665, 178413300-178413306, 178413452-178413454, 178421671-178421680 |
| 607 | SQSTM1 | 5 | 0.78609221466364 | 283 | 1323 | 179247937-179248129, 179248135-179248141, 179250001-179250008, 179250043-179250049, 179250858-179250872, 179250903, 179250943, 179250984-179251016, 179251236, 179251266, 179251292-179251307 |
| 608 | FLT4 | 5 | 0.24046920821114 | 3108 | 4092 | 180030257-180030263, 180038331-180038333, 180038381-180038391, 180038436-180038442, 180039589-180039599, 180040063-180040066, 180043367-180043368, 180043388, 180043394-180043395, 180043433, 180043456-180043489, 180043900-180043911, 180043928-180043986, 180045770-180045920, 180046021-180046109, 180046253-180046366, 180046665-180046769, 180047173-180047308, 180047609-180047715, 180047876-180048007, 180048106-180048252, 180048542-180048633, 180048640-180048647, 180048654-180048719, 180048733-180048784, 180048807-180048904, 180049731-180049839, 180050935-180051061, 180052869-180053031, 180053111-180053265, 180055882-180055999, 180056259-180056427, 180056696-180056835, 180056943-180057105, 180057225-180057337, 180057555-180057799, 180058682-180058778, 180076488-180076545 |
| 609 | FOXC1 | 6 | 0.48074608904934 | 863 | 1662 | 1610681-1610688, 1610718-1610724, 1610736, 1610757-1610808, 1610815-1610895, 1610918-1610923, 1610983-1611020, 1611058-1611075, 1611089-1611109, 1611127-1611219, 1611255-1611261, 1611270-1611310, 1611320-1611321, 1611324-1611345, 1611371-1611435, 1611460-1611464, 1611480-1611524, 1611550, 1611553-1611582, 1611605, 1611625-1611639, 1611649-1611662, 1611666, 1611674-1611675, 1611681-1611682, 1611688-1611732, 1611740-1611746, 1611790-1611828, 1611887-1611902, 1611914-1611926, 1611935-1611936, 1611961-1611977, 1611987-1612065, 1612087, 1612102-1612103, 1612108-1612109, 1612138-1612173, 1612213-1612221, 1612309-1612325 |
| 610 | TUBB2B | 6 | 0.88490284005979 | 154 | 1338 | 3225002-3225004, 3225007, 3225179, 3225241-3225244, 3225267-3225273, 3225283, 3225316, 3225363-3225380, 3225413-3225454, 3225481-3225514, 3225557-3225583, 3225928-3225936, 3227721-3227726 |
| 611 | DSP | 6 | 0.99605385329619 | 34 | 8616 | 7542304-7542305, 7585986-7586017 |
| 612 | GCM2 | 6 | 0.99934253780408 | 1 | 1521 | 10877373 |
| 613 | DTNBP1 | 6 | 0.99810606060606 | 2 | 1056 | 15663070-15663071 |
| 614 | ATXN1 | 6 | 0.95955882352941 | 99 | 2448 | 16327861-16327959 |
| 615 | ALDH5A1 | 6 | 0.99514268366727 | 8 | 1647 | 24495394, 24495530-24495536 |
| 616 | HLA-H | 6 | 0.576 | 318 | 750 | 29855764-29855811, 29855837, 29855849-29855875, 29855881-29855896, 29855901, 29855924-29855929, 29855940-29855947, 29855952, 29855964-29856001, 29856250-29856256, 29856259, 29856271-29856323, 29856347, 29856353, 29856368, 29856424-29856427, 29856439, 29856445, 29856456-29856469, 29856501, 29856505-29856527, 29856530-29856534, 29856546, 29856550, 29856555, 29856565-29856583, 29856611, 29856625-29856626, 29856633, 29856643, 29856665-29856691, 29856696-29856697, 29856718, 29856724, 29856746 |
| 617 | NEU1 | 6 | 0.98637820512821 | 17 | 1248 | 31827504, 31827508, 31829117-31829123, 31829184, 31829936-31829938, 31829965-31829968 |
| 618 | TNXB | 6 | 0.81181959564541 | 363 | 1929 | 31976896-31976929, 31977388-31977394, 31977498-31977533, 31977581-31977629, 31977748, 31977994-31978001, 31978044-31978087, 31978123-31978124, 31978498-31978517, 31979384-31979427, 31979450-31979499, 31979519-31979541, 31979570, 31979574-31979575, 31979623-31979639, 31979942-31979966 |
| 619 | CYP21A2 | 6 | 0.91129032258065 | 132 | 1488 | 32006200-32006204, 32006211-32006238, 32006267-32006276, 32006317, 32006337, 32006341, 32006360-32006390, 32006877-32006884, 32006886, 32006963-32006971, 32007545, 32007551, 32008336-32008361, 32008449, 32008714, 32008729, 32008734, 32008854-32008858 |
| 620 | TNXB | 6 | 0.96401916882709 | 458 | 12729 | 32009648-32009664, 32009803, 32009826-32009828, 32009893-32009899, 32010116-32010139, 32010254, 32010258, 32010344-32010363, 32010479-32010528, 32010590-32010608, 32010728-32010735, 32010778-32010821, 32010857-32010858, 32010961, 32011006, 32011225-32011251, 32011273, 32011636-32011647, 32011859, 32011885, 32012200, 32012205, 32012238-32012244, 32012256-32012288, 32012301-32012336, 32012370-32012383, 32012419, 32012424, 32012428-32012429, 32012477-32012493, 32012796-32012820, 32012901, 32013010-32013040, 32014049-32014065, 32015527-32015537, 32015540, 32023659-32023661, 32025882-32025886, 32026089-32026091, 32035612, 32064029-32064034 |
| 621 | HLA-DQA1 | 6 | 0.93359375 | 51 | 768 | 32609126, 32609130, 32609139-32609153, 32610387-32610406, 32610478, 32610481, 32610487, 32610495, 32610532-32610541 |
| 622 | HLA-DQB1 | 6 | 0.80916030534351 | 150 | 786 | 32629124-32629173, 32629224-32629234, 32632575-32632653, 32632696-32632703, 32632711, 32632717 |
| 623 | COL11A2 | 6 | 0.99769717904433 | 12 | 5211 | 33140138-33140140, 33143379-33143387 |
| 624 | SYNGAP1 | 6 | 0.9796626984127 | 82 | 4032 | 33388042-33388108, 33411456-33411457, 33411547, 33411658-33411669 |
| 625 | RPS10 | 6 | 0.99799196787149 | 1 | 498 | 34392862 |
| 626 | FANCE | 6 | 0.97765363128492 | 36 | 1611 | 35420389-35420397, 35420403-35420404, 35420408-35420411, 35420420-35420431, 35420561-35420569 |
| 627 | MOCS1 | 6 | 0.79120879120879 | 399 | 1911 | 39893422-39893589, 39895068-39895158, 39895167-39895225, 39895237-39895317 |
| 628 | PRPH2 | 6 | 0.99423631123919 | 6 | 1041 | 42672164-42672169 |
| 629 | PEX6 | 6 | 0.98606863744478 | 41 | 2943 | 42935280, 42936706-42936709, 42946396, 42946469-42946470, 42946521, 42946532, 42946651-42946652, 42946655-42946658, 42946712-42946734, 42946747, 42946817 |
| 630 | CUL7 | 6 | 0.99862664312341 | 7 | 5097 | 43008308, 43008314, 43008318, 43016161-43016164 |
| 631 | RSPH9 | 6 | 0.95186522262335 | 40 | 831 | 43612849-43612857, 43612887-43612917 |
| 632 | MUT | 6 | 0.98801597869507 | 27 | 2253 | 49403277, 49409576-49409579, 49409630-49409636, 49427147-49427161 |
| 633 | LMBRD1 | 6 | 0.99753542821935 | 4 | 1623 | 70410761, 70462166-70462168 |
| 634 | RIMS1 | 6 | 0.99862177594015 | 7 | 5079 | 72892076, 72892350-72892353, 72892361, 73001680 |
| 635 | SEC63 | 6 | 0.99255365746824 | 17 | 2283 | 108214770-108214786 |
| 636 | OSTM1 | 6 | 0.9134328358209 | 87 | 1005 | 108395707-108395752, 108395780-108395806, 108395839-108395840, 108395844-108395855 |
| 637 | COL10A1 | 6 | 0.99510523739599 | 10 | 2043 | 116442254-116442256, 116442259, 116442319-116442322, 116442728-116442729 |
| 638 | GJA1 | 6 | 0.96170583115753 | 44 | 1149 | 121768365, 121768401-121768441, 121768708, 121769050 |
| 639 | ENPP1 | 6 | 0.99856011519078 | 4 | 2778 | 132129195, 132129209-132129211 |
| 640 | PEX7 | 6 | 0.98765432098765 | 12 | 972 | 137143898, 137143903, 137143909-137143917, 137143927 |
| 641 | PEX3 | 6 | 0.99465240641711 | 6 | 1122 | 143792117, 143792124, 143792183-143792184, 143792561, 143792584 |
| 642 | TBP | 6 | 0.99607843137255 | 4 | 1020 | 170871055-170871057, 170871061 |
| 643 | LFNG | 7 | 0.056140350877193 | 1076 | 1140 | 2559496-2559927, 2564329-2564377, 2564853-2564952, 2565048-2565201, 2565319, 2565335-2565398, 2565878-2566043, 2566474-2566509, 2566530-2566543, 2566783-2566792, 2566797-2566846 |
| 644 | PMS2 | 7 | 0.91116261104674 | 230 | 2589 | 6013046-6013052, 6013115, 6013150-6013156, 6017292-6017298, 6022498-6022504, 6026390-6026395, 6026441-6026447, 6026507-6026509, 6026594-6026615, 6026653-6026657, 6026905-6026911, 6026968-6027005, 6027154-6027161, 6029431-6029447, 6038860-6038866, 6042138, 6042173-6042215, 6043372-6043408 |
| 645 | TWIST1 | 7 | 0.75369458128079 | 150 | 609 | 19156765-19156789, 19156798-19156917, 19156937, 19156941-19156944 |
| 646 | DNAH11 | 7 | 0.99948423224285 | 7 | 13572 | 21923911-21923917 |
| 647 | HOXA13 | 7 | 0.77206512425021 | 266 | 1167 | 27239082-27239084, 27239153-27239179, 27239190-27239192, 27239207, 27239213, 27239218-27239229, 27239272-27239276, 27239280, 27239288, 27239317-27239346, 27239366-27239425, 27239448-27239522, 27239533-27239578, 27239627 |
| 648 | GARS | 7 | 0.9990990990991 | 2 | 2220 | 30634719, 30634722 |
| 649 | GLI3 | 7 | 0.99283154121864 | 34 | 4743 | 42005264-42005266, 42005322-42005324, 42005541-42005551, 42005587-42005595, 42005654, 42005844-42005849, 42005885 |
| 650 | PGAM2 | 7 | 0.90813648293963 | 70 | 762 | 44102374, 44102475, 44104449-44104451, 44104457-44104476, 44104508-44104522, 44104531-44104533, 44104732-44104733, 44104739-44104740, 44104743, 44104842-44104843, 44104846-44104855, 44104859, 44104862, 44104919-44104921, 44104924-44104925, 44104942, 44105019, 44105094 |
| 651 | GCK | 7 | 0.99143468950749 | 12 | 1401 | 44186112-44186117, 44186120, 44186203, 44191877-44191880 |
| 652 | CCM2 | 7 | 0.85093632958802 | 199 | 1335 | 45039933-45039942, 45113091-45113098, 45113145-45113170, 45113869-45113878, 45113890-45113936, 45113964, 45113968, 45113971-45113976, 45115395-45115408, 45115456-45115482, 45115502, 45115504-45115528, 45115562, 45115604-45115612, 45115644-45115656 |
| 653 | EGFR | 7 | 0.99532067162125 | 17 | 3633 | 55086999-55087001, 55087008, 55087011-55087023 |
| 654 | GUSB | 7 | 0.99335378323108 | 13 | 1956 | 65445267, 65447015, 65447061-65447071 |
| 655 | ASL | 7 | 0.65376344086022 | 483 | 1395 | 65546952-65546971, 65547363-65547382, 65547412-65547438, 65547872-65547887, 65548073, 65548096-65548106, 65548111-65548118, 65548131, 65551621-65551643, 65551731-65551753, 65551793-65551808, 65553794-65553860, 65553873-65553879, 65553885-65553903, 65554078-65554082, 65554097-65554118, 65554138, 65554150, 65554160, 65554263-65554322, 65554599-65554609, 65554633-65554673, 65556993-65557001, 65557069, 65557544-65557553, 65557577-65557598, 65557610, 65557626, 65557635-65557641, 65557822, 65557825, 65557858, 65557872-65557899 |
| 656 | KCTD7 | 7 | 0.88965517241379 | 96 | 870 | 66094064-66094069, 66094074, 66094107-66094195 |
| 657 | SBDS | 7 | 0.99070385126162 | 7 | 753 | 66456158-66456164 |
| 658 | NCF1 | 7 | 0.84363636363636 | 129 | 825 | 72639760, 72639795, 72639812-72639813, 72639983-72639990, 72643627-72643675, 72644233-72644234, 72648676-72648710, 72648720-72648750 |
| 659 | ELN | 7 | 0.63862068965517 | 786 | 2175 | 73442518-73442599, 73455546-73455548, 73455565-73455581, 73456944-73456959, 73456986, 73456998-73457018, 73457322, 73457332-73457349, 73457360-73457364, 73458241-73458242, 73459552-73459565, 73459579-73459597, 73459603-73459623, 73461088, 73461092-73461097, 73462480, 73462839-73462883, 73466080-73466103, 73466111-73466169, 73466254-73466313, 73467589, 73467602, 73469078, 73470684-73470686, 73471992-73471994, 73474216-73474250, 73474262, 73474273-73474351, 73474362, 73474475-73474488, 73474706-73474711, 73474717-73474754, 73474777-73474811, 73477483-73477526, 73477553-73477554, 73477640-73477694, 73477951-73477960, 73477994, 73478001, 73480031-73480049, 73480274-73480287, 73481062-73481066, 73481094 |
| 660 | NCF1 | 7 | 0.6999147485081 | 352 | 1173 | 74188414-74188432, 74191636, 74193603-74193645, 74193659-74193678, 74193698-74193728, 74197294-74197315, 74197348-74197356, 74197955, 74199564, 74202356-74202390, 74202400-74202432, 74202903-74202923, 74202932-74202935, 74202953-74202956, 74202975-74203048, 74203383-74203412, 74203432-74203434, 74203452 |
| 661 | POR | 7 | 0.48017621145374 | 1062 | 2043 | 75608769-75608772, 75608775, 75608797-75608800, 75609657-75609680, 75609706-75609719, 75609739, 75609768-75609783, 75610366-75610380, 75610409-75610418, 75610441-75610459, 75610471-75610490, 75610835-75610871, 75611542-75611555, 75612838-75612885, 75612894-75612902, 75612932-75612951, 75613064-75613097, 75613143-75613174, 75614095-75614104, 75614131-75614276, 75614376-75614525, 75614922-75614947, 75614951-75614953, 75614958, 75614963-75614968, 75614978-75615036, 75615044-75615087, 75615103, 75615106-75615109, 75615116, 75615134, 75615144-75615167, 75615241-75615310, 75615328-75615355, 75615370-75615386, 75615477-75615510, 75615536-75615559, 75615671-75615688, 75615694-75615695, 75615701, 75615706-75615750, 75615757-75615763, 75615773-75615788, 75615798-75615799 |
| 662 | HSPB1 | 7 | 0.9126213592233 | 54 | 618 | 75932256-75932259, 75932269-75932278, 75932349-75932388 |
| 663 | AKAP9 | 7 | 0.99991470487888 | 1 | 11724 | 91714957 |
| 664 | PEX1 | 7 | 0.99766355140187 | 9 | 3852 | 92131225, 92157640-92157646, 92157655 |
| 665 | TFR2 | 7 | 0.99958437240233 | 1 | 2406 | 100230898 |
| 666 | RELN | 7 | 0.9999036330346 | 1 | 10377 | 103151452 |
| 667 | SLC26A4 | 7 | 0.99786598378148 | 5 | 2343 | 107302184, 107302222-107302224, 107302229 |
| 668 | MET | 7 | 0.99976036424635 | 1 | 4173 | 116339591 |
| 669 | CFTR | 7 | 0.99077200090029 | 41 | 4443 | 117188713-117188753 |
| 670 | PAX4 | 7 | 0.99903100775194 | 1 | 1032 | 127251699 |
| 671 | LEP | 7 | 0.99206349206349 | 4 | 504 | 127894476, 127894679-127894681 |
| 672 | IMPDH1 | 7 | 0.925 | 135 | 1800 | 128035307-128035315, 128038481, 128038484, 128038525, 128045838-128045889, 128049810-128049812, 128049836-128049838, 128049850, 128049854-128049859, 128049876-128049878, 128049893-128049920, 128049929-128049955 |
| 673 | FLNC | 7 | 0.92369772560528 | 624 | 8178 | 128470692-128470706, 128470723, 128470733, 128470736-128470738, 128470770-128470781, 128470807, 128470818, 128470832-128470855, 128470873-128470906, 128470915-128470918, 128470927-128470932, 128470959-128471043, 128475381-128475401, 128475470-128475476, 128475605, 128475611, 128475615-128475616, 128477214-128477216, 128477229, 128477233-128477236, 128477240, 128477246-128477247, 128477260-128477281, 128477289-128477311, 128477568, 128477734-128477740, 128477790, 128478344-128478345, 128478365, 128478476-128478480, 128478787, 128478790, 128478807-128478811, 128478821-128478824, 128480638-128480644, 128480897-128480900, 128480914, 128481234-128481240, 128481290, 128481293, 128481533, 128481578, 128481587, 128482285, 128482644-128482659, 128482674-128482676, 128482679-128482712, 128482739-128482741, 128482858-128482862, 128482891, 128482933, 128483368, 128483462-128483473, 128483628-128483631, 128492703-128492716, 128492721, 128493547-128493553, 128493661-128493662, 128493769-128493786, 128493885-128493886, 128494064, 128494094-128494096, 128494099, 128494105, 128494184-128494207, 128494250-128494270, 128494521-128494543, 128494572-128494595, 128494665, 128495346, 128496663, 128496689, 128496969, 128498097-128498120, 128498187-128498220, 128498255-128498263, 128498464, 128498516 |
| 674 | ATP6V0A4 | 7 | 0.99009116131589 | 25 | 2523 | 138394397-138394415, 138394456-138394461 |
| 675 | BRAF | 7 | 0.99521946979574 | 11 | 2301 | 140624404-140624414 |
| 676 | PRSS1 | 7 | 0.94489247311828 | 41 | 744 | 142460332-142460372 |
| 677 | KCNH2 | 7 | 0.92040229885057 | 277 | 3480 | 150654431-150654435, 150654456-150654466, 150655164-150655166, 150655192-150655224, 150655237, 150655270-150655294, 150655377-150655378, 150655511, 150655531, 150655539-150655554, 150671857-150671917, 150671933-150671946, 150671966, 150671974-150671977, 150672007-150672029, 150674926-150675001 |
| 678 | SHH | 7 | 0.3203743700504 | 944 | 1389 | 155595594-155595647, 155595674-155595811, 155595818-155595868, 155595879-155596224, 155596234-155596342, 155596368-155596415, 155598990-155599004, 155599018-155599142, 155599171-155599175, 155604741-155604782, 155604791-155604801 |
| 679 | MNX1 | 7 | 0.38059701492537 | 747 | 1206 | 156798214, 156798236-156798256, 156798264-156798288, 156798379, 156798406-156798446, 156798467-156798469, 156798551-156798557, 156799191, 156799249-156799294, 156799322-156799323, 156802364, 156802367-156802398, 156802428-156802435, 156802448-156802496, 156802519-156802545, 156802549, 156802564-156803044 |
| 680 | CLN8 | 8 | 0.99419279907085 | 5 | 861 | 1719465, 1719517-1719520 |
| 681 | GATA4 | 8 | 0.78179082016554 | 290 | 1329 | 11565827, 11565857, 11565861, 11565866-11565884, 11565909-11565924, 11565970, 11565974-11565981, 11565991-11566007, 11566013-11566015, 11566018-11566019, 11566030, 11566033-11566037, 11566046-11566069, 11566089-11566093, 11566101-11566122, 11566147-11566156, 11566184, 11566187-11566211, 11566220-11566284, 11566293, 11566305-11566307, 11566313-11566337, 11566346, 11566356, 11566359-11566375, 11566393-11566405, 11566407, 11566410 |
| 682 | ANK1 | 8 | 0.98981383912891 | 58 | 5694 | 41530288-41530289, 41552128, 41552131-41552136, 41553904, 41553919-41553929, 41581115-41581151 |
| 683 | THAP1 | 8 | 0.96261682242991 | 24 | 642 | 42693105, 42693109, 42693134-42693139, 42693201, 42693257-42693265, 42698206-42698211 |
| 684 | HGSNAT | 8 | 0.93815513626834 | 118 | 1908 | 42995640-42995757 |
| 685 | CHD7 | 8 | 0.99888814765399 | 10 | 8994 | 61734396, 61765506-61765512, 61777682-61777683 |
| 686 | GDF6 | 8 | 0.95687134502924 | 59 | 1368 | 97157155-97157157, 97157163-97157164, 97157335-97157341, 97157418-97157421, 97157480-97157513, 97157564-97157572 |
| 687 | TG | 8 | 0.99963885879379 | 3 | 8307 | 133912569-133912571 |
| 688 | SLURP1 | 8 | 0 | 312 | 312 | 143822561-143822694, 143823221-143823340, 143823746-143823803 |
| 689 | CYP11B2 | 8 | 0.99801587301587 | 3 | 1512 | 143993951-143993953 |
| 690 | PLEC | 8 | 0.49605122732124 | 7083 | 14055 | 144990361-144990403, 144990413-144990422, 144990513-144990537, 144990598, 144990621-144990622, 144990625, 144990728, 144990771-144990772, 144990783, 144990793, 144991040-144991065, 144991217, 144991303, 144991335-144991340, 144991348, 144991357-144991361, 144991445, 144991754-144991757, 144991800-144991810, 144991877-144991879, 144991892-144991915, 144991978, 144992161-144992166, 144992346-144992348, 144992353-144992368, 144992371, 144992392-144992400, 144992428-144992429, 144992438-144992447, 144992578-144992589, 144992644, 144992683, 144992686-144992703, 144992828-144992837, 144992882-144992884, 144993007, 144993015-144993022, 144993025, 144993049, 144993111-144993112, 144993352-144993358, 144993565-144993577, 144993589, 144993635-144993639, 144993692, 144993700-144993704, 144993727, 144993784-144993786, 144993848-144993874, 144993943, 144993947-144993955, 144993997-144994003, 144994190-144994204, 144994293-144994307, 144994325-144994332, 144994337-144994338, 144994346-144994403, 144994455-144994473, 144994617-144994621, 144994694, 144994747-144994771, 144994834, 144994951-144994957, 144994992-144995004, 144995009-144995014, 144995034, 144995102-144995107, 144995138-144995140, 144995170, 144995374-144995409, 144995481-144995521, 144995529-144995578, 144995608-144995626, 144995638-144995640, 144995738-144995764, 144995781, 144995791, 144995794, 144995801-144995852, 144995867-144995916, 144995936-144995955, 144995985-144995986, 144996024-144996043, 144996117-144996121, 144996165-144996178, 144996194, 144996203-144996206, 144996220-144996266, 144996288, 144996307-144996350, 144996373, 144996382-144996407, 144996427-144996437, 144996443, 144996510-144996563, 144996672-144996697, 144996712, 144996719, 144996724, 144996748, 144996755-144996756, 144996770-144996800, 144996832-144996838, 144996872-144996889, 144996908, 144996937-144997002, 144997057-144997106, 144997133-144997176, 144997185-144997226, 144997238-144997267, 144997282-144997327, 144997387, 144997396, 144997429-144997454, 144997465-144997466, 144997478-144997488, 144997509-144997532, 144997554, 144997558, 144997563-144997566, 144997601-144997636, 144997647-144997665, 144997680-144997713, 144997756, 144997761, 144997828-144997892, 144997900-144997938, 144997954-144997955, 144997975-144997992, 144998003, 144998012-144998100, 144998124-144998131, 144998136-144998138, 144998190, 144998194-144998205, 144998221-144998223, 144998233-144998295, 144998301-144998307, 144998314-144998371, 144998395-144998481, 144998492-144998503, 144998513-144998733, 144998739-144998986, 144999003-144999600, 144999607-144999618, 144999623-144999628, 144999655-145000052, 145000952-145000983, 145000991-145001024, 145001034-145001050, 145001156-145001162, 145001170-145001213, 145001232-145001249, 145001420-145001459, 145001478-145001500, 145001579-145001626, 145001638-145001659, 145001665-145001759, 145001781-145001801, 145001869-145001922, 145002022-145002087, 145002094-145002160, 145003271-145003297, 145003310, 145003316-145003345, 145003357-145003359, 145003368-145003414, 145003427-145003449, 145003582-145003633, 145003642-145003715, 145003721-145003725, 145003735-145003739, 145003814-145003869, 145003898-145003974, 145003980-145003988, 145003995-145003997, 145004104-145004110, 145004117-145004122, 145004131-145004139, 145004148-145004177, 145004191-145004206, 145004213-145004230, 145004312-145004420, 145004444, 145004451-145004466, 145004571-145004585, 145004609-145004657, 145004678-145004680, 145004683-145004686, 145005702-145005730, 145005742-145005757, 145005767-145005774, 145005784-145005827, 145006105-145006200, 145006298-145006402, 145006568-145006729, 145006803-145006880, 145006961-145007094, 145007105-145007112, 145007127-145007141, 145007151-145007154, 145007167-145007226, 145007234-145007243, 145007246-145007256, 145007269-145007279, 145007365-145007443, 145007452-145007456, 145007469-145007519, 145008166-145008259, 145008486-145008490, 145008500-145008518, 145008533-145008536, 145008543-145008553, 145008561-145008591, 145008606, 145008808-145008824, 145008849-145008898, 145008978-145009097, 145009179-145009190, 145009204-145009285, 145009366-145009481, 145010016-145010061, 145010072-145010091, 145010105-145010182, 145011147-145011239, 145011333-145011386, 145011407-145011410, 145012348-145012364, 145012391-145012408, 145012811-145012853, 145024360-145024385, 145024412-145024415, 145024458-145024504, 145024513-145024543, 145024549-145024625, 145024636-145024672, 145024682-145024705, 145024725-145024726, 145024730-145024827, 145024836-145024874 |
| 691 | GPT | 8 | 0.0046948356807511 | 1484 | 1491 | 145729688-145729849, 145729987-145730076, 145730154-145730160, 145730168-145730262, 145730381-145730514, 145730629-145730872, 145731231-145731310, 145731378-145731514, 145731615-145731789, 145731884-145732039, 145732114-145732226, 145732293-145732383 |
| 692 | RECQL4 | 8 | 0.025916735594155 | 3533 | 3627 | 145736814-145736938, 145737064-145737172, 145737294-145737450, 145737527-145737707, 145737775-145737944, 145738025-145738154, 145738230-145738521, 145738601-145738768, 145738770-145738864, 145738955-145739096, 145739312-145739491, 145739573-145739592, 145739599-145739621, 145739632-145739637, 145739640-145739641, 145739648-145739746, 145739833-145739857, 145739869-145739909, 145740320-145740393, 145740404-145740456, 145740534-145740626, 145740710-145740764, 145740770-145740841, 145741150-145741236, 145741247, 145741261-145741274, 145741372-145741591, 145741604-145742148, 145742434-145742574, 145742798-145742892, 145742986-145743019, 145743085-145743168 |
| 693 | DOCK8 | 9 | 0.99365079365079 | 40 | 6300 | 396805-396811, 396826, 396829, 399232-399238, 407006-407018, 446527-446533, 452058-452059, 452097-452098 |
| 694 | VLDLR | 9 | 0.97559115179252 | 64 | 2622 | 2622192-2622243, 2622260-2622271 |
| 695 | GLIS3 | 9 | 0.99964196204798 | 1 | 2793 | 4118208 |
| 696 | SLC1A1 | 9 | 0.99873015873016 | 2 | 1575 | 4490749-4490750 |
| 697 | GLDC | 9 | 0.99216454456415 | 24 | 3063 | 6645318, 6645321, 6645355-6645375, 6645466 |
| 698 | B4GALT1 | 9 | 0.94903926482874 | 61 | 1197 | 33166919-33166941, 33166983-33166987, 33167120-33167152 |
| 699 | GRHPR | 9 | 0.99594731509625 | 4 | 987 | 37424961-37424964 |
| 700 | ROR2 | 9 | 0.98870056497175 | 32 | 2832 | 94486002, 94495439-94495440, 94495575-94495583, 94495617-94495618, 94712193-94712210 |
| 701 | FANCC | 9 | 0.99940369707812 | 1 | 1677 | 97897697 |
| 702 | PTCH1 | 9 | 0.99240331491713 | 33 | 4344 | 98209516-98209518, 98220373-98220375, 98220379, 98270458-98270483 |
| 703 | FOXE1 | 9 | 0.80213903743316 | 222 | 1122 | 100616249-100616252, 100616278-100616286, 100616319, 100616324-100616325, 100616328, 100616539-100616546, 100616618-100616633, 100616682-100616737, 100616785-100616797, 100616863-100616898, 100617096-100617140, 100617149-100617179 |
| 704 | TGFBR1 | 9 | 0.97354497354497 | 40 | 1512 | 101867514, 101867538-101867562, 101867571-101867584 |
| 705 | DFNB31 | 9 | 0.9640234948605 | 98 | 2724 | 117240878-117240879, 117240887, 117241010, 117266855-117266861, 117266918-117266949, 117266993-117267040, 117267071-117267077 |
| 706 | NR5A1 | 9 | 0.84559884559885 | 214 | 1386 | 127245167-127245185, 127253467, 127255315-127255323, 127255327-127255328, 127255352-127255358, 127255404-127255409, 127262435-127262450, 127262490, 127262511-127262515, 127262545-127262554, 127262560, 127262604-127262607, 127262758, 127262768, 127262771, 127262805-127262808, 127262825-127262827, 127265358-127265361, 127265395, 127265401-127265412, 127265456-127265499, 127265573, 127265582-127265609, 127265612-127265639, 127265670-127265674 |
| 707 | LMX1B | 9 | 0.93744414655943 | 70 | 1119 | 129376798-129376839, 129377662-129377689 |
| 708 | ENG | 9 | 0.96408700050582 | 71 | 1977 | 130577965-130577980, 130578245-130578254, 130582278, 130605461-130605474, 130605484, 130605494, 130605501-130605505, 130616568-130616576, 130616586, 130616594, 130616597-130616608 |
| 709 | DOLK | 9 | 0.89919604205318 | 163 | 1617 | 131708082, 131708120-131708136, 131708341-131708345, 131708769, 131708772, 131708802, 131708923, 131708987-131708993, 131709018, 131709024-131709032, 131709034-131709053, 131709058, 131709119, 131709205, 131709278-131709325, 131709385-131709392, 131709486-131709489, 131709513-131709548 |
| 710 | TOR1A | 9 | 0.93293293293293 | 67 | 999 | 132586192-132586235, 132586342-132586364 |
| 711 | ASS1 | 9 | 0.99435028248588 | 7 | 1239 | 133327701-133327706, 133333788 |
| 712 | POMT1 | 9 | 0.99632690541781 | 8 | 2178 | 134396807-134396814 |
| 713 | SETX | 9 | 0.99987552900174 | 1 | 8034 | 135139874 |
| 714 | CEL | 9 | 0.80096873623954 | 452 | 2271 | 135937416, 135937421-135937424, 135937454-135937455, 135946462, 135946466-135946475, 135946481, 135946566-135946572, 135946599-135946999, 135947046-135947049, 135947061, 135947065-135947067, 135947077-135947082, 135947102, 135947126-135947135 |
| 715 | SURF1 | 9 | 0.77076411960133 | 207 | 903 | 136218951, 136218959, 136219320-136219323, 136220624-136220630, 136220655-136220666, 136220691-136220732, 136221741-136221774, 136223124-136223175, 136223276-136223329 |
| 716 | ADAMTS13 | 9 | 0.50723622782446 | 2111 | 4284 | 136288240-136288255, 136289465-136289468, 136290722-136290730, 136291106-136291108, 136291153-136291180, 136291323, 136291369-136291408, 136291433-136291465, 136293754-136293891, 136295059-136295221, 136297735-136297738, 136297741-136297744, 136297780-136297787, 136298521-136298526, 136298532-136298537, 136298543-136298558, 136298598-136298643, 136298782-136298803, 136301951-136301952, 136302026-136302075, 136302895-136302918, 136302921-136302942, 136302958-136302961, 136302967-136302977, 136302991-136303011, 136303368-136303399, 136303444, 136304487-136304492, 136304535-136304536, 136304541, 136304545, 136305497-136305515, 136305545, 136305548-136305550, 136305576, 136305606, 136305612-136305614, 136305619-136305637, 136307522, 136307546, 136307550-136307551, 136307561-136307615, 136307635-136307642, 136307735-136307792, 136307811, 136307820, 136307825-136307844, 136307849-136307864, 136308497-136308522, 136308529, 136308532, 136308542-136308556, 136308606-136308613, 136308619-136308644, 136308665-136308670, 136308676-136308682, 136309984-136309991, 136310022, 136310051, 136310056, 136310062, 136310092-136310094, 136310099-136310122, 136310149-136310173, 136310830-136310930, 136313720-136313726, 136313770-136313802, 136313806-136313807, 136313820-136313849, 136314904-136314917, 136314924-136314930, 136314949, 136314963-136314986, 136315058, 136315061, 136319560-136319576, 136319591, 136319603-136319611, 136319617, 136319620, 136319646-136319684, 136320458-136320519, 136320550-136320698, 136320713-136320725, 136321195-136321216, 136321244-136321266, 136321273-136321337, 136321665-136321711, 136321731-136321809, 136321822-136321824, 136323032-136323195, 136324136-136324167, 136324175-136324209, 136324225-136324264 |
| 717 | DBH | 9 | 0.58899676375405 | 762 | 1854 | 136501494-136501523, 136501561-136501579, 136501582, 136501620-136501631, 136501655, 136501658-136501670, 136501704, 136501720, 136501723-136501749, 136501755-136501758, 136501789-136501797, 136501806-136501807, 136504968-136504984, 136504995-136505003, 136505012-136505064, 136507415-136507430, 136508592-136508614, 136508624-136508657, 136509361-136509410, 136513013, 136513021, 136513051-136513085, 136516756-136516857, 136516887-136516893, 136517386-136517403, 136518097, 136521645-136521772, 136522192-136522201, 136522229-136522286, 136522302-136522351, 136523449, 136523511-136523538 |
| 718 | SARDH | 9 | 0.76822633297062 | 639 | 2757 | 136529061-136529093, 136529102-136529136, 136531857-136531973, 136531984-136531992, 136535706-136535874, 136536657-136536754, 136536777-136536819, 136555535, 136555592, 136559388, 136559417-136559423, 136559452-136559493, 136568039, 136568049-136568052, 136568094, 136573411-136573413, 136573416, 136573436-136573445, 136573542, 136577752-136577753, 136578181, 136578231, 136584085-136584124, 136599207-136599208, 136599273-136599288 |
| 719 | COL5A1 | 9 | 0.70164944716331 | 1646 | 5517 | 137534034-137534142, 137582758-137582807, 137582831, 137582836, 137582846-137582882, 137582897-137582925, 137591755-137591756, 137591766-137591800, 137591819-137591870, 137591878-137591966, 137593017-137593179, 137619171, 137620555, 137620558, 137620595, 137622187-137622206, 137622294-137622302, 137623342-137623348, 137623372, 137623457-137623466, 137623484-137623502, 137623507, 137630320-137630361, 137630629-137630653, 137642388-137642462, 137642636-137642728, 137644435-137644444, 137644451-137644491, 137645696-137645749, 137646134-137646172, 137648611-137648627, 137650092-137650132, 137653771-137653806, 137655546, 137655577-137655583, 137657538-137657539, 137657542-137657543, 137657548-137657549, 137657567-137657575, 137658322-137658324, 137658332-137658334, 137659156-137659166, 137659189-137659192, 137660265, 137664636-137664637, 137664661-137664667, 137666722-137666730, 137666749-137666758, 137671948-137671953, 137671965-137671992, 137674520, 137674525, 137674537-137674540, 137674562-137674564, 137676877-137676883, 137676907-137676942, 137677841-137677889, 137681021-137681022, 137687152-137687161, 137688240-137688264, 137688695, 137688702-137688703, 137690283-137690305, 137693800-137693805, 137694802, 137696822-137696852, 137696889-137696910, 137697029-137697031, 137697043-137697050, 137698117-137698130, 137703361-137703362, 137704309-137704315, 137704492-137704493, 137706701, 137707788-137707794, 137707829-137707834, 137708872-137708883, 137709627, 137709630-137709632, 137709635-137709639, 137710502-137710514, 137710545-137710563, 137710595-137710606, 137710703-137710709, 137710740-137710747, 137711997, 137713964-137713971, 137716684, 137726820-137726858, 137726914-137726924, 137727039-137727050, 137734090 |
| 720 | LHX3 | 9 | 0.35732009925558 | 777 | 1209 | 139089175-139089195, 139089216-139089217, 139089240, 139089275-139089294, 139089307-139089379, 139089385, 139089428-139089432, 139089446-139089477, 139089503-139089539, 139089547-139089589, 139090498-139090510, 139090524-139090548, 139090562-139090563, 139090580-139090606, 139090608, 139090616-139090621, 139090645-139090666, 139090754-139090857, 139090863-139090905, 139091524-139091537, 139091558-139091601, 139091614-139091623, 139091630-139091632, 139091667-139091701, 139091710-139091711, 139091716-139091724, 139091726, 139092428-139092461, 139092474-139092489, 139092510-139092535, 139092566-139092567, 139092581-139092589, 139094792-139094885 |
| 721 | INPP5E | 9 | 0.33850129198966 | 1280 | 1935 | 139324222-139324225, 139324802-139324808, 139325489-139325491, 139325502-139325511, 139325555-139325559, 139326276-139326416, 139326931-139326944, 139326982-139327019, 139327030-139327038, 139327434, 139327439, 139327454-139327459, 139327485-139327516, 139327632-139327693, 139327699-139327721, 139327729-139327731, 139328500-139328523, 139328534-139328535, 139328539-139328545, 139328562-139328581, 139329200-139329229, 139329239-139329240, 139329247, 139329270-139329298, 139329311-139329315, 139333060-139333083, 139333090-139333365, 139333371-139333871 |
| 722 | NOTCH1 | 9 | 0.010693792383933 | 7586 | 7668 | 139390523-139391193, 139391203-139391209, 139391216-139391591, 139391612-139391986, 139391993-139392010, 139393351-139393448, 139393564-139393711, 139395004-139395299, 139396200-139396365, 139396453-139396540, 139396724-139396940, 139397634-139397782, 139399125-139399556, 139399762-139399890, 139399902-139400333, 139400979-139401026, 139401042-139401091, 139401168-139401425, 139401757-139401889, 139402407-139402591, 139402684-139402837, 139403322-139403523, 139404185-139404413, 139405105-139405257, 139405604-139405723, 139407473-139407586, 139407844-139407989, 139408962-139409154, 139409742-139409852, 139409935-139410168, 139410433-139410546, 139411724-139411837, 139412204-139412389, 139412589-139412744, 139413043-139413276, 139413895-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438491, 139438507-139438554, 139440178-139440238 |
| 723 | AGPAT2 | 9 | 0.1816009557945 | 685 | 837 | 139568204-139568224, 139568234, 139568245-139568379, 139569205, 139569225-139569227, 139569258-139569259, 139571037-139571129, 139571413-139571447, 139571457-139571534, 139571546-139571574, 139571581-139571588, 139571875-139571942, 139571953, 139571965-139571981, 139571991-139571993, 139572001-139572008, 139581628-139581809 |
| 724 | SLC34A3 | 9 | 0.043333333333333 | 1722 | 1800 | 140126155-140126221, 140126228-140126239, 140126524-140126564, 140126571-140126613, 140127028-140127029, 140127034-140127106, 140127118-140127155, 140127236-140127379, 140127456-140127566, 140127661-140127856, 140128085-140128165, 140128315-140128393, 140128561-140128728, 140128868-140128984, 140129059-140129061, 140129102-140129183, 140130404-140130868 |
| 725 | EHMT1 | 9 | 0.75032075955863 | 973 | 3897 | 140513481-140513501, 140605432-140605482, 140611078-140611634, 140622870, 140638523, 140638526, 140669561-140669568, 140671117-140671122, 140671260-140671278, 140672345-140672371, 140672433-140672479, 140706010-140706011, 140706058, 140707838-140707848, 140707893, 140707934, 140707937, 140708891-140708903, 140708947-140708960, 140712549, 140728801-140728809, 140728822-140728823, 140728826-140728827, 140728835-140728837, 140728841-140728842, 140728907-140728908, 140728937-140728976, 140729248-140729312, 140729323, 140729327-140729329, 140729334-140729335, 140729338-140729340, 140729343-140729379, 140729388-140729405 |
| 726 | SHOX | X | 0.52787258248009 | 415 | 879 | 591633-591766, 591773-591909, 595353-595367, 595374-595400, 595403, 595424-595481, 595488-595492, 595502-595538, 595555 |
| 727 | CSF2RA | X | 0.31111111111111 | 899 | 1305 | 1401597-1401638, 1401642, 1401660-1401672, 1404671-1404813, 1407468, 1407524-1407526, 1407529, 1407667-1407715, 1407732-1407738, 1407754-1407781, 1409230-1409246, 1409289-1409326, 1409336-1409402, 1413221-1413354, 1414320-1414349, 1419384-1419449, 1419463-1419519, 1422154-1422234, 1422243, 1422248, 1422816-1422847, 1422858-1422866, 1422900-1422912, 1424374-1424414, 1428295-1428317, 1428356 |
| 728 | PHKA2 | X | 0.99973031283711 | 1 | 3708 | 18912374 |
| 729 | ARX | X | 0.98105387803434 | 32 | 1689 | 25031501-25031506, 25031520-25031522, 25031527, 25031533-25031540, 25031658-25031665, 25031677-25031679, 25031777-25031779 |
| 730 | RPGR | X | 0.80803700491472 | 664 | 3459 | 38144894, 38144935, 38144941-38144949, 38145021-38145026, 38145033, 38145061-38145064, 38145067-38145075, 38145190-38145212, 38145252-38145801, 38145828-38145853, 38145933-38145951, 38146040-38146046, 38146051, 38150276-38150277, 38150661-38150665 |
| 731 | NYX | X | 0.8865836791148 | 164 | 1446 | 41332898-41332901, 41333236-41333270, 41333327-41333366, 41333436-41333480, 41333543-41333548, 41333591, 41333600-41333601, 41333605, 41333943-41333972 |
| 732 | CACNA1F | X | 0.99882035726323 | 7 | 5934 | 49061654-49061656, 49067102-49067105 |
| 733 | FOXP3 | X | 0.99691358024691 | 4 | 1296 | 49114888-49114891 |
| 734 | AR | X | 0.99348534201954 | 18 | 2763 | 66765159-66765173, 66766357-66766359 |
| 735 | MED12 | X | 0.99908172635445 | 6 | 6534 | 70361098-70361103 |
| 736 | TAF1 | X | 0.99120028159099 | 50 | 5682 | 70586180-70586229 |
| 737 | PCDH19 | X | 0.99576527525711 | 14 | 3306 | 99663434, 99663437-99663440, 99663560-99663568 |
| 738 | XIAP | X | 0.99531459170013 | 7 | 1494 | 123040945-123040951 |
| 739 | GPC3 | X | 0.99483648881239 | 9 | 1743 | 133119412-133119420 |
| 740 | ZIC3 | X | 0.99287749287749 | 10 | 1404 | 136651141-136651145, 136651178-136651182 |
| 741 | FAM58A | X | 0.98231292517007 | 13 | 735 | 152864491-152864495, 152864498, 152864507-152864513 |
| 742 | SLC6A8 | X | 0.82075471698113 | 342 | 1908 | 152954030-152954189, 152954209-152954231, 152954248-152954291, 152957440, 152957443, 152957500-152957510, 152958926-152958933, 152959470-152959472, 152959690, 152959700-152959701, 152959813-152959833, 152959837, 152959901, 152959992-152960003, 152960174-152960193, 152960255-152960257, 152960260, 152960532-152960560 |
| 743 | ABCD1 | X | 0.92493297587131 | 168 | 2238 | 152990780-152990788, 152990841-152990861, 152990868-152990873, 152990885-152990906, 152991020-152991023, 152991029, 152991032, 152991165-152991173, 152991286-152991295, 152991427-152991446, 152991500-152991504, 153001874, 153008473-153008486, 153008675-153008678, 153008788, 153008944, 153008981-153008987, 153009080-153009086, 153009132-153009155, 153009178 |
| 744 | L1CAM | X | 0.99019607843137 | 37 | 3774 | 153128273-153128276, 153128993, 153129443-153129444, 153130625-153130635, 153133329-153133331, 153133346, 153133781-153133784, 153134995-153134996, 153134999, 153135377-153135380, 153135633, 153135877-153135879 |
| 745 | OPN1MW | X | 0.97168949771689 | 31 | 1095 | 153453337-153453343, 153453443-153453449, 153455586, 153455590, 153455598, 153455668-153455674, 153459077-153459083 |
| 746 | OPN1MW | X | 0.95981735159817 | 44 | 1095 | 153490455-153490461, 153490561-153490567, 153490592-153490614, 153492786-153492792 |
| 747 | FLNA | X | 0.84982376636455 | 1193 | 7944 | 153577305-153577306, 153577373, 153577376-153577377, 153577382, 153577386-153577387, 153577403-153577404, 153577757-153577780, 153577814-153577815, 153577821-153577824, 153577827-153577841, 153577882-153577884, 153577902, 153577921, 153578040-153578044, 153578055-153578056, 153578196-153578212, 153578513-153578514, 153578519-153578520, 153578569, 153579298-153579320, 153579346-153579360, 153579980-153579984, 153580322, 153580615, 153580618-153580629, 153581004-153581007, 153581015-153581043, 153581140-153581147, 153581553-153581572, 153581711-153581715, 153581725-153581726, 153581730, 153581740-153581750, 153582528-153582530, 153582594-153582598, 153582630-153582634, 153582759-153582771, 153582842-153582844, 153585845-153585866, 153585873, 153585878, 153585928-153585939, 153586665-153586671, 153586851-153586856, 153587421-153587424, 153587484-153587518, 153587635-153587639, 153587694-153587714, 153587754-153587755, 153587768-153587770, 153587852-153587861, 153587878, 153587908-153587910, 153587950-153587981, 153588103-153588104, 153588107, 153588145-153588189, 153588388-153588397, 153588407-153588444, 153588469-153588486, 153588508-153588557, 153588598-153588604, 153588643-153588653, 153588828-153588867, 153588904-153588910, 153588950-153588955, 153589844, 153590074-153590079, 153590106-153590112, 153590140, 153590390-153590397, 153590449-153590481, 153590628-153590672, 153590800-153590811, 153590850, 153590854-153590881, 153590925-153590946, 153592440-153592456, 153593004, 153593276-153593279, 153593285, 153593290-153593291, 153593295, 153593531-153593537, 153593717-153593725, 153593744-153593749, 153593752, 153593830-153593854, 153594703-153594704, 153594710-153594711, 153594784-153594790, 153594833-153594835, 153595100-153595128, 153595207-153595218, 153595789-153595790, 153596038-153596051, 153596064-153596065, 153596217-153596258, 153599241, 153599251-153599257, 153599264-153599310, 153599349-153599351, 153599354-153599361, 153599452-153599566, 153599574-153599577 |
| 748 | EMD | X | 0.9437908496732 | 43 | 765 | 153607894-153607910, 153608083-153608093, 153609139, 153609142-153609145, 153609465, 153609504-153609512 |
| 749 | TAZ | X | 0.92522179974651 | 59 | 789 | 153640251-153640259, 153640280-153640289, 153640423-153640437, 153640440, 153640443-153640444, 153640456-153640464, 153640511-153640512, 153640517, 153640525-153640534 |
| Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
|---|---|---|---|---|---|---|
| 5 | DMD-R2937Q | homozygous | 0.957 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 5 | DMD-N2912D | homozygous | 0.031 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.059 (benign), Testable gene in GeneTests with associated GeneReview |
| 5 | DMD-E2910V | homozygous | 0.030 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.77 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 5 | DMD-R1745H | homozygous | 0.336 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 5 | DMD-D882G | homozygous | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 3 | APOE-C130R | het unknown | 0.135 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 2.5 | TSHR-W546* | het unknown | 0.000 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 4 Nonsense mutation, Testable gene in GeneTests |
| 2.5 | TSHR-E727D | homozygous | 0.920 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2.5 | SDHD-G12S | het unknown | 0.008 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | AGRP-A67T | het unknown | 0.030 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.857 (probably damaging) |
| 2 | BRCA2-N372H | homozygous | 0.237 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | BRCA2-I1957V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 2 | BRCA2-V2466A | homozygous | 0.977 | Dominant benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | TP53-P72R | homozygous | 0.628 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview |
| 2 | RNASEL-D541E | homozygous | 0.475 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | RNASEL-R462Q | homozygous | 0.278 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.964 (probably damaging), Testable gene in GeneTests |
| 2 | PCSK9-A53V | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | PCSK9-G670E | homozygous | 0.888 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-S4338N | het unknown | 0.802 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-R3638Q | het unknown | 0.064 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-P2739L | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-I2313V | het unknown | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-H1923R | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-Y1422C | homozygous | 1.000 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-A618V | het unknown | 0.366 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-T98I | het unknown | 0.247 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1.5 | PRNP-M129V | het unknown | 0.340 | Complex/Other protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1.5 | PRF1-A91V | het unknown | 0.033 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.852 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1.5 | SFTPA1-V19A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1.5 | SFTPA1-R219W | het unknown | 0.085 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 1 | SP110-M523T | het unknown | 0.415 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SP110-L425S | het unknown | 0.863 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SP110-G299R | het unknown | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SP110-W112R | het unknown | 0.917 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SP100-V399Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SP100-M826T | het unknown | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | DEFB126-P106Shift | homozygous | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | VSIG10L-Q860Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | VSIG10L-R592Q | homozygous | 0.563 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | VSIG10L-M356I | homozygous | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | VSIG10L-N3T | homozygous | 0.605 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HADHB-T2TT | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | CYP1B1-V432L | homozygous | 0.445 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | CYP1B1-R48G | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ZNF761-L47Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF761-I122S | homozygous | 0.686 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF761-V168I | homozygous | 0.770 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | TTN-A19840P | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-R19629K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-K11752E | het unknown | 0.080 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-E10146EVLPEEEE | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-K7081E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-S3419N | homozygous | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-V3261M | homozygous | 0.893 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-S1295L | homozygous | 0.950 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-K1201E | homozygous | 0.731 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-T811I | het unknown | 0.186 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-V498I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | ZNF167-N494Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | KRTAP7-1-I61S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-S51P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-Y17Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | HLA-DQA1-L8M | het unknown | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-C34Y | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Q57E | homozygous | 0.265 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-A68V | het unknown | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-R70Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-W71L | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-E73L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-S75R | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-K76R | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-G78R | het unknown | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-G79R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-G84F | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-R87T | het unknown | 0.259 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-M89I | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-A92L | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-M99V | het unknown | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-Y103S | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Q152H | het unknown | 0.407 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Q198E | het unknown | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-M230V | homozygous | 0.700 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TNXB-R48P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | FANCE-S204L | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FANCE-A502T | het unknown | 0.152 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | PKHD1-Q4048R | homozygous | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | PKHD1-Q3899R | homozygous | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | PKHD1-L1870V | homozygous | 0.952 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | PKHD1-N830S | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-R8735Q | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-G8323A | het unknown | 0.376 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-A8168S | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-R7772Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | SYNE1-F7302V | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-L5015M | het unknown | 0.808 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-S4596T | het unknown | 0.793 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-K4121R | het unknown | 0.784 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-E4060D | het unknown | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-C4021R | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-A2795V | het unknown | 0.195 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-V2722I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | SYNE1-D1730E | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-V1035A | homozygous | 0.534 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-L885V | het unknown | 0.063 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | RSPH4A-R244H | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | RSPH4A-R556H | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | RSPH4A-L589P | homozygous | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-L1093F | homozygous | 0.731 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-V1951I | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-P1987L | homozygous | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-Y2232C | homozygous | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-N2345S | homozygous | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-N2584S | homozygous | 0.735 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-E3471K | homozygous | 0.758 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-E3867K | homozygous | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-E5344G | homozygous | 0.937 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-V5427M | homozygous | 0.972 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | IL7R-I66T | homozygous | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | IL7R-V138I | homozygous | 0.745 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | IL7R-T244I | het unknown | 0.210 | Unknown protective | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | IL7R-I356V | het unknown | 0.294 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | NPC1-I858V | het unknown | 0.445 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | NPC1-M642I | het unknown | 0.738 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NPC1-H215R | het unknown | 0.296 | Complex/Other protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | KIAA1671-P205T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) | |
| 1 | KIAA1671-K439R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.872 (probably damaging) | |
| 1 | ATXN7-K264R | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.949 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | ATXN7-V862M | het unknown | 0.394 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HTT-G893R | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | HTT-V1064I | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HTT-Y2309H | het unknown | 0.466 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HTT-Y2788* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Nonsense mutation, Testable gene in GeneTests with associated GeneReview | |
| 1 | KDR-C482R | het unknown | 0.021 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 1 | KDR-Q472H | het unknown | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CNGA1-S3F | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | RAI1-G90A | homozygous | 0.415 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | RAI1-P165T | homozygous | 0.339 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | RAI1-Q291Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TGIF1-P83Shift | het unknown | 0.139 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests with associated GeneReview |
| 1 | B3GNT6-L316Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | B3GNT6-L335Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | TYR-S192Y | het unknown | 0.271 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | TYR-R402Q | het unknown | 0.205 | Complex/Other benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | TRIM64-I58T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-V68L | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-R162S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | TRIM64-V238M | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-E242V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-Q358R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-Q405R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | C12orf44-D85Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | VDR-M1T | homozygous | 0.676 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 1 | RAPSN-R205Q | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.852 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | KCNJ11-V337I | het unknown | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | KCNJ11-L270V | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | KCNJ11-K23E | het unknown | 0.738 | Unknown protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | PADI6-R207Q | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | DPYD-R29C | homozygous | 0.714 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | HRNR-S799T | het unknown | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | HRNR-S799T | het unknown | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | HRNR-R664Q | homozygous | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-Q519P | homozygous | 0.059 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-E473G | homozygous | 0.950 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-Q376R | homozygous | 0.950 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-R85H | homozygous | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.078 (benign) |
| 1 | HRNR-M1Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CHIT1-G102S | het unknown | 0.281 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.057 (benign), Testable gene in GeneTests |
| 1 | F5-M1764V | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-K925E | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-H865R | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-K858R | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-Q534R | homozygous | 0.978 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-D107H | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | KRT4-Q230R | het unknown | 0.294 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | KRT4-G160GAGGFGAGFGTGGFG | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | KRT4-A146V | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | CEP290-K838E | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | CEP290-D664G | het unknown | 0.009 | Unknown benign | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | ELAC2-S217L | het unknown | 0.273 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.025 (benign), Testable gene in GeneTests |
| 1 | SLC22A1-L160F | homozygous | 0.838 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SLC22A1-M408V | het unknown | 0.640 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SLC22A1-M420Del | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SLC22A1-G465R | het unknown | 0.019 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.99 (probably damaging) |
| 1 | SEBOX-W10Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | AP1S2-T35A | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | AP1S2-R29P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | KRT10-S518SGGGYGGGSS | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | KRT10-I101SFGGGSFGGGS | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | PIK3R6-L609Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NPRL3-L489Shift | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | HNF1A-I27L | homozygous | 0.260 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | HNF1A-S487N | homozygous | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | HNF1A-S574G | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | FNDC3A-T1017A | homozygous | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 1 | C14orf104-D768G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | C14orf104-E62D | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | SYNE2-R1393W | het unknown | 0.052 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.54 (possibly damaging), Testable gene in GeneTests |
| 1 | SYNE2-M1969T | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
| 1 | SYNE2-A2284V | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests |
| 1 | SYNE2-S2359N | homozygous | 0.769 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
| 1 | SYNE2-A2395T | homozygous | 0.880 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | SYNE2-S2802G | homozygous | 0.914 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 1 | SYNE2-I2942V | homozygous | 0.723 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | SYNE2-D3253H | homozygous | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests |
| 1 | SYNE2-H3309R | homozygous | 0.742 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 1 | SYNE2-P4912A | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 1 | SYNE2-E4913K | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.251 (possibly damaging), Testable gene in GeneTests |
| 1 | SYNE2-L5186M | het unknown | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | GPHB5-F53Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | HSH2D-S223Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | C8orf49-G26R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | C8orf49-I81V | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | C8orf49-C194* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | PLEKHA2-P389Shift | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | CXorf59-R424Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NEFL-S472Shift | homozygous | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 1 | AKAP9-M463I | homozygous | 0.442 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | AKAP9-K921R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | AKAP9-K1335KQ | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | AKAP9-N2792S | homozygous | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | AKAP9-P2979S | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ATG9B-A765Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | PCDH11Y-V917F | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | PCDH11Y-N1012K | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | EFHC2-C57Y | homozygous | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | NR_027444-W159Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | DGKK-L1014Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | OPN1MW-M153L | homozygous | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | USP9Y-E65D | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview | |
| 1 | RPGR-Q456R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | KCP-H313Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.875 | MTRR-I49M | het unknown | 0.451 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.875 | MTRR-S202L | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | CILP-G1166S | homozygous | 0.734 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | CILP-Q979R | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | CILP-K575E | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | CILP-I395T | het unknown | 0.632 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | COMT-V158M | het unknown | 0.448 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | BLMH-I443V | het unknown | 0.285 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | BANK1-R61H | het unknown | 0.283 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | BANK1-A383T | het unknown | 0.295 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.778 (possibly damaging) |
| 0.75 | BANK1-C650R | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | AMPD1-P48L | het unknown | 0.094 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.75 | AMPD1-Q12* | het unknown | 0.093 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Nonsense mutation, Testable gene in GeneTests |
| 0.75 | CST3-A25T | het unknown | 0.171 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | AURKA-I57V | het unknown | 0.836 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | AURKA-F31I | het unknown | 0.188 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | ADD1-G460W | het unknown | 0.157 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.75 | ADD1-S617C | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.625 | FBN1-R2355Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0.625 | FBN1-C472Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | APOH-S107N | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | MIF4GD-F85Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | MIF4GD-Q81* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | ITGB4-L1779P | homozygous | 0.604 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CC2D2B-N64D | het unknown | 0.142 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.168 (benign) |
| 0.5 | CC2D2B-Q401L | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | NRIP3-R160W | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.899 (probably damaging) |
| 0.5 | LIPA-T16P | homozygous | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.5 | GLI3-T183A | homozygous | 0.666 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USP32-V844Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | USP32-L841Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CACNG1-G196S | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | DNAI2-A558T | homozygous | 0.767 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN4A-N1376D | homozygous | 0.602 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN4A-S524G | het unknown | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TUBB3-DDEEES439VDEEDP | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TUBB3-Q447L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ABCC2-Y39F | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DLX4-N44S | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | COL1A1-T1075A | homozygous | 0.971 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FBXW10-R275L | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | MAP2K3-P40T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | MAP2K3-R55T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MAP2K3-S68P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.029 (benign) |
| 0.5 | MAP2K3-R94L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | MAP2K3-R96W | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | MAP2K3-Q102* | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | MAP2K3-L215W | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | MAP2K3-R293H | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.338 (possibly damaging) |
| 0.5 | MAP2K3-V339M | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.815 (possibly damaging) |
| 0.5 | ZFHX4-I2036V | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.077 (benign) |
| 0.5 | ZFHX4-V3033G | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.889 (probably damaging) |
| 0.5 | MYO15A-GS842VP | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | MYO15A-C1977R | het unknown | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO15A-L3160F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | PEX2-C184R | homozygous | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADRB1-S49G | het unknown | 0.137 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ADRB1-G389R | homozygous | 0.681 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ARMS2-R3H | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CALHM1-L86P | homozygous | 0.798 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TG-S734A | het unknown | 0.592 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-M1028V | het unknown | 0.591 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | TG-D1312G | homozygous | 0.456 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-D1838N | homozygous | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
| 0.5 | TG-R1999W | het unknown | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-W2501R | het unknown | 0.614 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.031 (benign), Testable gene in GeneTests |
| 0.5 | TG-R2530Q | het unknown | 0.572 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | UNC45B-V60I | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | UNC45B-I852N | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | GPATCH8-C1161W | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | NSF-V361M | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | NSF-T476M | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.513 (possibly damaging) |
| 0.5 | COL17A1-D1370G | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-M703V | homozygous | 0.715 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-T210M | homozygous | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LIPJ-F200V | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | LIPJ-I210V | homozygous | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | JUP-M697L | homozygous | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GGH-A31T | homozygous | 0.210 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KRT33B-E85K | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.881 (probably damaging) |
| 0.5 | TRIM22-D155N | het unknown | 0.560 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.024 (benign) |
| 0.5 | TRIM22-R242T | het unknown | 0.511 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | TRIM22-R321K | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | USP6-L121S | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | USP6-G125R | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | USP6-R126K | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | USP6-Q128K | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | USP6-R1101W | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | DSG2-I293V | het unknown | 0.063 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DSG2-E713K | het unknown | 0.058 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DSG2-R773K | het unknown | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | METRNL-C188Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | METRNL-P190Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | METRNL-S210P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ZNF480-C3Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ZNF880-N106Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ZNF880-N140NN | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ZNF880-R198S | het unknown | 0.358 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF880-N202H | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF880-K471R | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NLRP7-V319I | homozygous | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | FPR1-E346A | het unknown | 0.799 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-V101L | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-I11T | homozygous | 0.773 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ETFB-T245M | het unknown | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ETFB-P52L | het unknown | 0.061 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZNF114-R244Q | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.917 (probably damaging) |
| 0.5 | EMP3-I125V | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.878 (probably damaging) |
| 0.5 | CCDC7-L77Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ADRB3-W64R | het unknown | 0.085 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NT5C1B-R187Q | het unknown | 0.114 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.5 | NT5C1B-S176* | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | HR-R867H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HR-R620Q | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | HR-S618P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | DYSF-G129E | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRTM2-D161N | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.853 (probably damaging) |
| 0.5 | EIF2AK3-A704S | homozygous | 0.802 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EIF2AK3-Q166R | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TEKT4-H152Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | TEKT4-R344L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | TEKT4-S349L | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.886 (probably damaging) |
| 0.5 | TEKT4-R351W | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | EXO1-N279S | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | EXO1-H354R | homozygous | 0.567 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.119 (benign) |
| 0.5 | EXO1-E670G | homozygous | 0.652 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.025 (benign) |
| 0.5 | EXO1-R723C | homozygous | 0.945 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.512 (possibly damaging) |
| 0.5 | STON1-GTF2A1L-K8N | homozygous | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | STON1-GTF2A1L-R127T | homozygous | 0.330 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | STON1-GTF2A1L-Q607H | homozygous | 0.449 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | STON1-GTF2A1L-T1043A | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | GCKR-L446P | homozygous | 0.679 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ALK-D1529E | homozygous | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-I1461V | homozygous | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CUBN-S2717W | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-C2162Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-S1935G | het unknown | 0.145 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-P1559S | homozygous | 0.743 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-P389T | homozygous | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-F253S | homozygous | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | OPTN-K322E | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SIX5-V693M | het unknown | 0.343 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SIX5-P635S | het unknown | 0.401 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CHAT-V461M | homozygous | 0.961 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-N1349D | homozygous | 0.813 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-A1572T | homozygous | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-V1672I | het unknown | 0.139 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-T1996S | homozygous | 0.414 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCAMP4-P199L | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.958 (probably damaging) |
| 0.5 | STXBP2-I526V | homozygous | 0.675 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP8B1-A1152T | homozygous | 0.999 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO5B-L1055LL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | MYO5B-T126A | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO5B-L59P | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | RP1-N985Y | homozygous | 0.349 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests |
| 0.5 | RP1-C2033Y | homozygous | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests |
| 0.5 | ADAM3A-G372S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ADAM3A-R356W | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ADAM3A-N302S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ADAM3A-R215G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ADAM3A-F185Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | LAMA3-P1208T | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMA3-S2834G | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DSC1-M659T | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ADAMTS10-H1101Q | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC29A3-R18G | homozygous | 0.488 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC29A3-S158F | homozygous | 0.618 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC29A3-V239I | homozygous | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC29A3-I326V | homozygous | 0.893 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AIFM2-R253C | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.862 (probably damaging) |
| 0.5 | PRX-G1132R | homozygous | 0.955 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP2B6-R487C | het unknown | 0.088 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.5 | ERCC2-K751Q | het unknown | 0.319 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ERCC2-D312N | het unknown | 0.235 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FAM125A-D249N | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | MTHFR-A222V | het unknown | 0.272 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests |
| 0.5 | LDLR-A391T | het unknown | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MAN2B1-R337Q | homozygous | 0.373 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MAN2B1-T312I | homozygous | 0.458 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RNASEH2A-L202S | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RNASEH2A-D205E | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NOTCH3-A2223V | homozygous | 0.730 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NOTCH3-V1183M | het unknown | 0.091 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NOTCH3-A1020P | het unknown | 0.112 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NOB1-Y366F | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.834 (possibly damaging) |
| 0.5 | JPH3-T263P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | JPH3-D694V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | FREM2-S745P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FREM2-R1840W | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.5 | FREM2-T2326I | homozygous | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EPSTI1-E395Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | SUCLA2-S199T | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BAAT-R20Q | homozygous | 0.627 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests |
| 0.5 | CSNK1A1L-R170S | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.9 (probably damaging) |
| 0.5 | CSNK1A1L-D42E | het unknown | 0.514 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABCA1-K1587R | homozygous | 0.582 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DLAT-E19Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DLAT-Q209R | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DLAT-V318A | het unknown | 0.502 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KDELC2-P144L | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ATM-H17R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ATM-F858L | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATM-P1054R | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATM-D1853N | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATM-N1983S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | B3GALTL-E370K | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLN5-P21S | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLN5-K368R | het unknown | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DZIP1-C604W | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | FANCM-N655S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | FANCM-V878L | het unknown | 0.189 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCM-N1253S | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCM-I1460V | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCM-P1812A | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCM-N1876S | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ROR2-V819I | homozygous | 0.704 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ROR2-T245A | het unknown | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALG8-I439T | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | AK300656-R11* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | PAX9-A240P | homozygous | 0.311 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCK2-Q121P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FARP1-H644Y | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | COL4A1-T555P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYH6-A1130T | het unknown | 0.083 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYH6-V1101A | het unknown | 0.461 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYH6-G56R | het unknown | 0.083 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | JPH4-A502Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | HPD-T33A | homozygous | 0.902 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SURF6-T311M | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SURF6-T175M | het unknown | 0.257 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SURF6-R163W | het unknown | 0.257 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-L878R | homozygous | 0.809 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-N753S | homozygous | 0.633 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-L618F | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-V361L | homozygous | 0.712 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LRRK2-R50H | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-N551K | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-R1398H | het unknown | 0.093 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-M2397T | het unknown | 0.614 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL2A1-G1405S | het unknown | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL2A1-T9S | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNT10B-P301S | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.418 (possibly damaging) |
| 0.5 | WNK1-T1056P | homozygous | 0.850 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-C1506S | homozygous | 0.985 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-M1808I | het unknown | 0.432 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLCO1B3-S112A | homozygous | 0.718 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLCO1B3-M233I | homozygous | 0.718 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.131 (benign) |
| 0.5 | SLCO1B3-T414I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CACNA2D4-D916N | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.486 (possibly damaging), Testable gene in GeneTests |
| 0.5 | VWF-Q852R | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-T789A | homozygous | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-H484R | het unknown | 0.503 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ACSM4-Q357* | het unknown | 0.060 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | CLECL1-S52Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CDK5RAP2-V1540L | homozygous | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDK5RAP2-E289Q | homozygous | 0.849 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KRT6C-R182Q | homozygous | 0.402 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SH2B3-W262R | homozygous | 0.634 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TRAFD1-E303A | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | RASAL1-R321H | het unknown | 0.766 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RASAL1-T58M | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | DDX54-P822L | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | DDX54-R693Q | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.86 (probably damaging) |
| 0.5 | CD3G-V131F | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.773 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SVEP1-T3559M | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.964 (probably damaging) |
| 0.5 | SVEP1-A2750V | het unknown | 0.366 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SVEP1-D2702G | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | SVEP1-E1810A | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 0.5 | SVEP1-L1648V | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SVEP1-M1444L | het unknown | 0.252 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SVEP1-I1157V | het unknown | 0.183 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.907 (probably damaging) |
| 0.5 | KRT74-E271D | homozygous | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.017 (benign) |
| 0.5 | KRT74-N165K | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | DFNB31-V783A | het unknown | 0.412 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-H752Q | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-M613T | het unknown | 0.492 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-R364H | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LYZ-T88N | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests |
| 0.5 | BEST3-Y43H | het unknown | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | FAM201A-Q115* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | MTHFD1-K134R | homozygous | 0.831 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MTHFD1-P638L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | MTHFD1-R653Q | homozygous | 0.376 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) |
| 0.5 | ABCC6-H632Q | homozygous | 0.448 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OTOA-F15Y | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PEX16-V116I | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC35C1-I227V | homozygous | 0.143 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SNX29-E417K | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.937 (probably damaging) |
| 0.5 | ABAT-Q56R | homozygous | 0.514 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DOCK8-D63N | homozygous | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests |
| 0.5 | SERPING1-V480M | homozygous | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.5 | OR2C1-G16S | het unknown | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | OR2C1-C149W | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | OR2C1-R229H | het unknown | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | OR2C1-F273Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | AK311524-V28A | homozygous | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AK311524-W181Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ALX4-P102S | het unknown | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALX4-R35T | het unknown | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SALL1-V1275I | homozygous | 0.988 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSNAXIP1-R428C | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | RGPD4-D761G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 0.5 | RGPD4-Q1169R | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | HYDIN-E4159Q | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-T4004A | het unknown | 0.432 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-Q3904Shift | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | HYDIN-M3868R | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-V3839L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-V3741I | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-A3738T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-L3315P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-A3290P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-I2693S | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-K2588R | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-D2569N | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-G2557E | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-T2520LEREKAERERL | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HYDIN-L2501S | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-P2454Q | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-N2444I | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-E2305G | het unknown | 0.599 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | HYDIN-R2297G | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | HYDIN-Q2241R | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-V2098M | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-R2086C | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | HYDIN-R1951Q | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.269 (possibly damaging) |
| 0.5 | HYDIN-I1533V | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-P1491H | het unknown | 0.369 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | HYDIN-V1228L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-I1077V | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.082 (benign) |
| 0.5 | HYDIN-N724D | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | HYDIN-T690A | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | HYDIN-G489D | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | HYDIN-M15T | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | SBF2-Q1216E | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH1C-E819D | homozygous | 0.517 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SPTY2D1-R447Q | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.932 (probably damaging) |
| 0.5 | RPGRIP1L-T1143S | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CETP-V422I | homozygous | 0.589 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CCDC135-D51N | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.927 (probably damaging) |
| 0.5 | SLC6A5-G102S | het unknown | 0.369 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-F124S | het unknown | 0.799 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-A162G | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-K457N | het unknown | 0.113 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.051 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-D463N | het unknown | 0.231 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCI-A86V | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCI-C742S | het unknown | 0.287 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCI-I877L | het unknown | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OR10V1-Q123R | homozygous | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | OR10V1-V117A | het unknown | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | OR10V1-A67E | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | SPATA7-V74M | homozygous | 0.416 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO7A-S1666C | homozygous | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KAL1-V534I | homozygous | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IGHMBP2-L201S | homozygous | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IGHMBP2-T671A | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IGHMBP2-T879K | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GALC-T641A | homozygous | 0.959 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-I562T | het unknown | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-R184C | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.746 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | IL11RA-R395W | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | RDH12-R161Q | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.941 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZFYVE26-N1891S | homozygous | 0.942 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZFYVE26-C1457Y | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.5 | ACOT4-A187D | het unknown | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | ACOT4-AY189QS | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MLH3-P844L | het unknown | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MLH3-N826D | homozygous | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZFYVE19-R48Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ZFYVE19-S376A | homozygous | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | MEN1-T546A | homozygous | 0.908 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MS4A14-I56Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | MS4A14-N177Y | het unknown | 0.640 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | MS4A14-G584R | het unknown | 0.574 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | HCN4-K86A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | HCN4-L53T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | GIF-M97T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | GIF-Q23R | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | ADAMTSL3-L290V | het unknown | 0.849 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ADAMTSL3-V661L | het unknown | 0.620 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ADAMTSL3-N1516I | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (probably damaging) |
| 0.5 | HEXA-I436V | homozygous | 0.867 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.5 | STRC-Q84R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DUOX2-S1067L | het unknown | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DUOX2-P982A | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DUOX2-R701Q | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DUOX2-H678R | het unknown | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DUOX2-P138L | het unknown | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ROM1-G118A | homozygous | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests |
| 0.5 | CD6-P105L | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CD6-A257V | het unknown | 0.552 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CD6-T539A | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | ALMS1-S524SP | homozygous | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-V671G | homozygous | 0.881 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-R4029K | homozygous | 0.540 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCCC1-H464P | homozygous | 0.584 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCA4-N1868I | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.77 (possibly damaging), Testable gene in GeneTests |
| 0.5 | ABCA4-H423R | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TERT-V747N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TERT-L725R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | DNAH5-I4450V | het unknown | 0.528 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-T3791I | het unknown | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-L2862F | homozygous | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-I766L | het unknown | 0.518 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-T558A | het unknown | 0.330 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-G24E | het unknown | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-H12Q | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AGA-T149S | homozygous | 0.923 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DBT-S384G | homozygous | 0.858 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FAT4-Q453L | homozygous | 0.464 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.5 | FAT4-A807V | homozygous | 0.464 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.799 (possibly damaging) |
| 0.5 | FAT4-S3873N | homozygous | 0.992 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT4-R4726K | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.956 (probably damaging) |
| 0.5 | MFSD8-A423V | het unknown | 0.072 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.177 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A1-S1547P | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A1-P1335L | het unknown | 0.448 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A1-D46E | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR3C2-V180I | homozygous | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AMACR-E277K | homozygous | 0.756 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AMACR-L201S | homozygous | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AMACR-G175D | homozygous | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AMACR-V9M | homozygous | 0.415 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PLOD3-T629M | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | APC-V1822D | homozygous | 0.826 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LEPR-K109R | het unknown | 0.231 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.026 (benign), Testable gene in GeneTests |
| 0.5 | LEPR-Q223R | homozygous | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests |
| 0.5 | ALDH7A1-K439Q | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FBN2-I2394T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | FBN2-M2311V | het unknown | 0.101 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FBN2-V965I | homozygous | 0.665 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CTH-S403I | homozygous | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCSK1-S690T | het unknown | 0.235 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
| 0.5 | PCSK1-Q665E | het unknown | 0.247 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HEXB-L62S | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HEXB-K121R | het unknown | 0.199 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HEXB-I207V | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.119 (benign), Testable gene in GeneTests |
| 0.5 | AP3B1-K804Del | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AP3B1-V585E | homozygous | 0.932 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEGR1-Y347S | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | CYP3A7-R409T | homozygous | 0.762 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CFI-T300A | homozygous | 0.965 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HADH-L86P | homozygous | 0.847 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HADH-Q152H | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CC2D2A-E229Del | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GSTM1-K173N | het unknown | 0.264 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EDARADD-M9I | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC2A9-P350L | homozygous | 0.378 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC2A9-R294H | het unknown | 0.149 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.5 | SLC2A9-T275M | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.893 (probably damaging), Testable gene in GeneTests |
| 0.5 | SLC2A9-G25R | homozygous | 0.429 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CASQ2-T66A | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLDN16-R55Shift | homozygous | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.5 | CPN2-Q509W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | CPN2-Q509W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | CPN2-L99P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | SH3BP2-A308P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | SH3BP2-E309G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | DOK7-RE52GK | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | DOK7-I104P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | KIT-M541L | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.017 (benign), Testable gene in GeneTests |
| 0.5 | BC032716-Y42Shift | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ADH1B-H48R | homozygous | 0.963 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MTTP-I128T | het unknown | 0.266 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MTTP-H297Q | het unknown | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MTTP-G661S | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MANBA-V253I | homozygous | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | TET2-P363L | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.917 (probably damaging) |
| 0.5 | TET2-L1721W | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.032 (benign) |
| 0.5 | TET2-I1762V | het unknown | 0.313 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | ABCG2-V12M | het unknown | 0.045 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CDS1-L99F | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LPHN3-T659A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.865 (probably damaging) |
| 0.5 | UGT2B15-K523T | het unknown | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UGT2B15-Y85D | homozygous | 0.508 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UGT2B7-Y268H | homozygous | 0.207 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ENAM-P724L | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC22A4-I306T | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SLC22A4-L503F | homozygous | 0.304 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ALG6-S306F | homozygous | 0.738 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PEX6-P939Q | homozygous | 0.430 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CUL7-Q813R | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MUT-I671V | homozygous | 0.608 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MUT-R532H | homozygous | 0.313 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRPH2-D338G | homozygous | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRPH2-R310K | homozygous | 0.931 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRPH2-Q304E | homozygous | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TRERF1-D1187N | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | COL11A2-P894L | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TULP1-K261N | homozygous | 0.844 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TULP1-I259T | het unknown | 0.366 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TULP1-T67R | homozygous | 0.905 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RLF-G957D | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | MOCS1-R439Q | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DDC-M17V | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZC3H12A-P32L | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.946 (probably damaging) |
| 0.5 | ZC3H12A-R33S | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.228 (possibly damaging) |
| 0.5 | DNAH11-E34L | het unknown | 0.368 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-I214V | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-V1023A | het unknown | 0.350 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T1038A | het unknown | 0.816 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-N2641S | homozygous | 0.529 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-R3004Q | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-A3474T | het unknown | 0.350 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-M4172V | homozygous | 0.718 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T4177I | het unknown | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-K4508R | het unknown | 0.072 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNA5-V207M | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.715 (possibly damaging), Testable gene in GeneTests |
| 0.5 | DFNA5-P142T | het unknown | 0.166 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.292 (possibly damaging), Testable gene in GeneTests |
| 0.5 | NPSR1-N107I | het unknown | 0.489 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NPSR1-C197F | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | NPSR1-S241R | homozygous | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.019 (benign) |
| 0.5 | TXNDC3-C208R | het unknown | 0.787 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TXNDC3-I493T | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TBP-Q95QQ | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TBP-Q81R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TBP-Q95QQQQQ | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ALPL-V522A | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LCA5-L24S | homozygous | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | AIM1-C491R | homozygous | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.091 (benign) |
| 0.5 | AIM1-E1196A | homozygous | 0.930 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 0.5 | GJB4-C169W | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.5 | OGDH-H3Y | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.855 (probably damaging) |
| 0.5 | HLA-DQB1-V235I | het unknown | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-T217I | het unknown | 0.179 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-S214N | het unknown | 0.336 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-A172T | het unknown | 0.324 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-G157A | het unknown | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-G157S | het unknown | 0.191 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-V148I | het unknown | 0.180 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-D89V | homozygous | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-A70V | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-Y62H | het unknown | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-L58G | het unknown | 0.132 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-M46L | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-F41Y | homozygous | 0.782 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-L28S | het unknown | 0.375 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-L28S | het unknown | 0.375 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-S27T | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-M24I | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-D12G | het unknown | 0.400 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-A6S | het unknown | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-N4055I | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-G2518E | homozygous | 0.685 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-H1161R | het unknown | 0.477 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CPT2-V368I | homozygous | 0.456 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GEMIN5-R1016C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | GEMIN5-R682Q | homozygous | 0.837 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.151 (benign) |
| 0.5 | GEMIN5-R319G | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | NIPAL4-R213G | homozygous | 0.449 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC26A2-I574T | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PDE6A-H655Y | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NR_027127-W61* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | SRA1-V110RL | homozygous | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADRB2-G16R | het unknown | 0.413 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | ADRB2-E27Q | het unknown | 0.661 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | PARS2-P364R | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | PARS2-N235S | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PARS2-R28S | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.228 (possibly damaging) |
| 0.5 | GABRG2-I215V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | PROP1-N20S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PSORS1C2-P94Shift | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | PSORS1C2-L83P | homozygous | 0.919 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-R29P | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | MICA-G198S | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-G318Shift | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | HSPA1L-E602K | het unknown | 0.237 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HSPA1L-T493M | homozygous | 0.873 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | COL1A2-P549A | homozygous | 0.798 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | POMGNT1-M623V | homozygous | 0.940 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | POMGNT1-LE85RP | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | HLA-L-H17R | het unknown | 0.260 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-L-I30V | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-L-R38Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | HLA-L-A142V | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-L-W144* | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | HLA-L-C172Y | het unknown | 0.253 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GRM6-Q59P | homozygous | 0.616 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NHLRC1-P111L | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FAAH-P129T | homozygous | 0.256 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HLA-G-T282M | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | GNAT2-L107I | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.704 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP6V0A4-V2A | homozygous | 0.735 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CACNA1S-L458H | het unknown | 0.273 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WFDC3-R63L | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | WFDC3-H36D | homozygous | 0.702 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.207 (possibly damaging) |
| 0.5 | ASPM-L2647I | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-S2562G | het unknown | 0.317 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-Y2494H | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPTN-E707G | homozygous | 0.101 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.426 (possibly damaging) |
| 0.5 | RPTN-K163R | homozygous | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | RPTN-S161P | homozygous | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.743 (possibly damaging) |
| 0.5 | RPTN-G159S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | RPTN-R154G | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | COL6A3-T3069I | het unknown | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-A3012P | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-M2988V | het unknown | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-A2960Del | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | COL6A3-M2927T | homozygous | 0.700 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-R1767Q | homozygous | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-Q1578R | homozygous | 0.962 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-R723K | homozygous | 0.827 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-S1400P | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-V1327M | het unknown | 0.445 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-P1004L | homozygous | 0.516 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-P482S | homozygous | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-R171S | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-R304I | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D314H | het unknown | 0.681 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D392G | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-T682N | het unknown | 0.131 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCK1-V184L | homozygous | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCK1-E276K | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GTPBP5-H93R | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.906 (probably damaging) |
| 0.5 | PCNT-T539I | homozygous | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-T879A | homozygous | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests |
| 0.5 | PCNT-R1163C | homozygous | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.5 | PCNT-I1639V | homozygous | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCNT-Q2659H | homozygous | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests |
| 0.5 | PCNT-Q2792R | homozygous | 0.693 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.5 | PRODH-R521Q | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NR_027052-R29H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_027052-T53Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NR_027052-Q90* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | ITGB2-Q354H | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests |
| 0.5 | NDUFV3-R200* | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | NDUFV3-D415N | homozygous | 0.640 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | COL9A3-R103Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | COL9A3-A606T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CLCN1-G118W | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLCN1-P727L | het unknown | 0.424 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KCNE1-S38G | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | STK36-K295R | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.019 (benign) |
| 0.5 | STK36-R477W | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | STK36-R583Q | homozygous | 0.507 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.892 (probably damaging) |
| 0.5 | STK36-G1003D | het unknown | 0.277 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.061 (benign) |
| 0.5 | STK36-R1112Q | het unknown | 0.067 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.124 (benign) |
| 0.5 | CXCR1-R335C | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | CXCR1-M31R | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | NEB-A6277P | het unknown | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-R4389T | het unknown | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K2613N | homozygous | 0.351 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-V1491M | homozygous | 0.660 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-Y1301H | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K1027N | homozygous | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN1A-A1056T | homozygous | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KIAA1715-T159S | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.426 (possibly damaging) |
| 0.5 | MMADHC-K29N | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DL492456-R148H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | DL492456-Y109C | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | DL492456-W104* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | CFC1-W78R | homozygous | 0.966 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | YSK4-Y380H | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.95 (probably damaging) |
| 0.5 | PCNXL2-N2065S | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | PCNXL2-R1984Q | het unknown | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.048 (benign) |
| 0.5 | PCNXL2-S1901N | het unknown | 0.233 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PCNXL2-R1169W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | PDE11A-S921SS | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | PDE11A-Y727C | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PDE11A-R184Q | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DFNB59-R265G | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.645 (possibly damaging), Testable gene in GeneTests |
| 0.5 | CPS1-T344A | homozygous | 0.597 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCA12-S777T | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-E3411A | het unknown | 0.573 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-R2875Q | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.077 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-I2169T | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-I2106T | het unknown | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-I1665T | het unknown | 0.112 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-R1486K | het unknown | 0.607 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-V230M | het unknown | 0.016 | Recessive benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-A125T | homozygous | 0.719 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LBR-S154N | homozygous | 0.704 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EPHX1-Y113H | het unknown | 0.257 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | OBSCN-A908T | homozygous | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) |
| 0.5 | OBSCN-V1508D | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.5 | OBSCN-D2106E | homozygous | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.5 | OBSCN-G3780R | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | OBSCN-G4039R | homozygous | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.932 (probably damaging) |
| 0.5 | OBSCN-H4381R | homozygous | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | OBSCN-C4450R | homozygous | 0.745 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.907 (probably damaging) |
| 0.5 | OBSCN-R4516W | homozygous | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.65 (possibly damaging) |
| 0.5 | OBSCN-S4642C | homozygous | 0.747 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.058 (benign) |
| 0.5 | OBSCN-D4962G | homozygous | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.467 (possibly damaging) |
| 0.5 | OBSCN-LHPRGF6820RHPRGP | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | COL3A1-H1353Q | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRSS38-M204V | homozygous | 0.836 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRSS38-I224N | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | ALS2-V368M | homozygous | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALS2-I94V | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRFIP1-Q275R | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | LRRFIP1-R690T | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | LRRFIP1-H783D | het unknown | 0.275 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | PPARG-P12A | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.979 (probably damaging), Testable gene in GeneTests |
| 0.5 | CNOT10-T348S | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.478 (possibly damaging) |
| 0.5 | SCN5A-H558R | het unknown | 0.246 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CAPN7-A128T | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | XPC-Q939K | homozygous | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | XPC-A499V | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN2-R126H | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KIAA1614-L64P | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIAA1614-P267L | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | KIAA1614-S326F | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.689 (possibly damaging) |
| 0.5 | KIAA1614-R377H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | KIAA1614-N1078D | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FLNB-DRE88Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | FLNB-L1100R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | NR_002144-DDDFE68Del | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_002144-SE75P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_002144-L77Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NR_002144-Q280R | homozygous | 0.858 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NR_002144-Y307H | homozygous | 0.858 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NR_002144-L312R | homozygous | 0.856 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DRD3-G9S | homozygous | 0.533 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | F9-T194A | homozygous | 0.233 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RETNLB-L14Shift | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | RHBG-V143D | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RHBG-G315R | homozygous | 0.458 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RHBG-P424Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | RHBG-H428R | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GBE1-I334V | homozygous | 0.980 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USP21-P91S | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.979 (probably damaging) |
| 0.5 | NR_015394-G45W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_015394-F74S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_015394-T113Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | MAP4-S996F | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.945 (probably damaging) |
| 0.5 | MAP4-V628I | het unknown | 0.388 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.92 (probably damaging) |
| 0.5 | MAP4-S427Y | het unknown | 0.249 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | NCF2-K181R | homozygous | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC5A1-N51S | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.043 (benign), Testable gene in GeneTests |
| 0.5 | SLC5A1-A411T | het unknown | 0.052 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC5A1-H615Q | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SEC14L3-D335E | homozygous | 0.695 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SEC14L3-R214H | het unknown | 0.217 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SEC14L3-I103T | het unknown | 0.361 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | SEC14L3-L88P | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.376 (possibly damaging) |
| 0.5 | SEC14L3-R63W | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ATG7-V471A | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.365 (possibly damaging) |
| 0.5 | ISX-S28G | het unknown | 0.731 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ISX-R83Q | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ISX-T182M | het unknown | 0.083 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | RGL1-S217C | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SEC14L4-E211D | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.94 (probably damaging) |
| 0.5 | KIAA1644-S197L | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ATP7A-E1350K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALG12-I393V | het unknown | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMC2-S733T | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TCN2-F89L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | TCN2-R259P | het unknown | 0.636 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TCN2-R399Q | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests |
| 0.375 | GAA-H199R | het unknown | 0.673 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | GAA-Y458H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | GAA-V780I | het unknown | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | ARSB-V358M | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.117 (benign), Testable gene in GeneTests |
| 0.375 | ARSB-A33V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | SLC3A1-G376S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | SLC3A1-M618I | het unknown | 0.542 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.375 | LAMA2-R619H | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | LAMA2-R826W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | LAMA2-A2585V | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | ADAMTS13-Q448E | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | ADAMTS13-R452W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | CDAN1-R891C | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.375 | CDAN1-Q596R | het unknown | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | CDAN1-R118S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | CDAN1-Q107L | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | PCDH15-N1624S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | PCDH15-S19A | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.375 | PINK1-Q115L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | PINK1-N521T | het unknown | 0.269 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LDLRAP1-S202P | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests |
| 0.25 | DPAGT1-I393V | het unknown | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SEPN1-C108Y | het unknown | 0.788 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SEPN1-N467K | het unknown | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FLG2-S2377* | homozygous | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.25 | FLG2-T2146Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | FLG2-R276Q | homozygous | 0.217 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FLG2-L41F | homozygous | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FMN2-G59Del | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | FMN2-G941Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | FUCA1-Q286R | het unknown | 0.264 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.004 (benign), Testable gene in GeneTests |
| 0.25 | FUCA1-W52G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | H19-G355R | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | H19-V94I | het unknown | 0.361 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | H19-W38R | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CLCNKA-Y315F | het unknown | 0.187 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | NOTCH2-C19W | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | RYR2-Q2958R | het unknown | 0.224 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDA-K27Q | het unknown | 0.262 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GNPAT-D519G | het unknown | 0.168 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.025 (benign), Testable gene in GeneTests |
| 0.25 | HYLS1-C31R | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests |
| 0.25 | HSPG2-V1982M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | HSPG2-A1503V | homozygous | 0.694 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | HSPG2-N765S | homozygous | 0.933 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | HSPG2-M638V | homozygous | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TIRAP-S55N | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | TIRAP-S180L | het unknown | 0.115 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KCNJ5-I275Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | KCNJ5-Q282E | homozygous | 0.987 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PTPN22-W620R | het unknown | 0.934 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ANXA11-R230C | het unknown | 0.341 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.25 | RET-G691S | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | AK094914-K152N | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | AK094914-S14Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CFHR1-H157Y | het unknown | 0.305 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CFHR1-L159V | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FMO2-D36G | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FMO2-S195L | het unknown | 0.384 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LAMB3-M852L | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | USP35-T655Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | USP35-A876P | homozygous | 0.970 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LRP8-R952Q | het unknown | 0.290 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KISS1-*139Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | KISS1-P81R | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TMEM81-F100S | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.25 | TMEM81-R77Q | het unknown | 0.772 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | STIL-A86V | het unknown | 0.595 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BDNF-V148M | het unknown | 0.138 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SCD-M224L | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PTF1A-S263P | het unknown | 0.507 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests |
| 0.25 | C10orf113-D100H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C10orf113-R62G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C10orf113-S22Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | NGF-A35V | het unknown | 0.370 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.123 (benign), Testable gene in GeneTests |
| 0.25 | AGT-M268T | het unknown | 0.561 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ABCC8-A1369S | het unknown | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL9A2-Q326R | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DYNC2H1-Q304L | het unknown | 0.048 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests |
| 0.25 | DYNC2H1-K1413R | het unknown | 0.679 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.063 (benign), Testable gene in GeneTests |
| 0.25 | DYNC2H1-S1785SNS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | DYNC2H1-R2871Q | homozygous | 0.756 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CFH-H402Y | het unknown | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CFH-E936D | het unknown | 0.139 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TAF5-S130A | homozygous | 0.249 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TAF5-S138Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MYO3A-R319H | het unknown | 0.488 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYO3A-I348V | het unknown | 0.680 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYO3A-V369I | het unknown | 0.661 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYO3A-S956N | het unknown | 0.520 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYO3A-T1284S | het unknown | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.25 | MYO3A-R1313S | het unknown | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CR611604-M8T | het unknown | 0.909 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CR611604-T47I | het unknown | 0.922 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CR611604-R51Q | het unknown | 0.875 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CR611604-Q69Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CR611604-M72T | het unknown | 0.906 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CR611604-A330T | het unknown | 0.867 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CR611604-K344E | het unknown | 0.898 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLCO1B1-N130D | het unknown | 0.528 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLCO1B1-P155T | het unknown | 0.135 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | BC144501-R115* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | BC144501-P64T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | BC144501-I45T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | SUMF1-S63N | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
| 0.25 | TCF20-M405V | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.963 (probably damaging) |
| 0.25 | MYH9-I1626V | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CBR3-V244M | het unknown | 0.400 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.014 (benign) |
| 0.25 | HPS4-Q620H | het unknown | 0.868 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | HPS4-H601Y | het unknown | 0.868 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HPS4-V547M | het unknown | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HPS4-E224G | het unknown | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TMEM43-K168N | het unknown | 0.287 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TMEM43-M179T | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CREB3L2-Y318Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CREB3L2-V130I | het unknown | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CREB3L2-T100Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PLD1-A622S | het unknown | 0.179 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CLCN2-T668S | het unknown | 0.594 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CASR-E1011Q | het unknown | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PVRL3-L41Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PVRL3-L47Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CCDC71-K345N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CCDC71-A344* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | CCDC71-W339R | het unknown | 0.599 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CCDC71-Q317L | het unknown | 0.567 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CPOX-N272H | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.037 (benign), Testable gene in GeneTests |
| 0.25 | MYH15-T1125A | het unknown | 0.242 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.007 (benign) |
| 0.25 | MYH15-H504Y | homozygous | 0.715 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
| 0.25 | MYH15-R454Q | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.25 | MMP9-Q279R | het unknown | 0.346 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MMP9-R574P | homozygous | 0.918 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MMP9-R668Q | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF775-R234Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ZNF775-R247D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | LCT-N1639S | het unknown | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | LCT-V219I | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ABCB11-V444A | het unknown | 0.603 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | RAB3GAP1-N598S | het unknown | 0.115 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GLI2-A1156S | het unknown | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GLI2-D1306N | het unknown | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MCEE-R104L | het unknown | 0.189 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MCEE-A76V | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MERTK-R466K | het unknown | 0.635 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MERTK-I518V | het unknown | 0.635 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | NEUROD1-T45A | het unknown | 0.672 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | AOX1-N1135S | het unknown | 0.174 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | AX747124-V24Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | AX747124-Y27C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | AX747124-VH30AC | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | AX747124-H33S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | AX747124-YI35CA | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PANK2-G126A | het unknown | 0.940 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A3-L141P | het unknown | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A3-E162G | het unknown | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A3-D326Y | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC4A3-H157P | het unknown | 0.947 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.25 | SLC4A3-H157P | het unknown | 0.947 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.25 | CTLA4-T17A | het unknown | 0.371 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | CPO-M85I | het unknown | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.196 (benign), Testable gene in GeneTests |
| 0.25 | CPO-S134R | het unknown | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ATIC-T116S | het unknown | 0.248 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | EVC-Y258H | het unknown | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 0.25 | EVC-T449K | het unknown | 0.852 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EVC-R576Q | het unknown | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.25 | WFS1-V333I | het unknown | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | WFS1-R611H | het unknown | 0.400 | Recessive not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | EYS-R2326Q | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-L1419S | het unknown | 0.759 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-L852P | homozygous | 0.642 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-T120M | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FIG4-V654A | het unknown | 0.331 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KIF6-W719R | het unknown | 0.507 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.25 | ABCB1-S893A | het unknown | 0.683 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ALDH5A1-H180Y | het unknown | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDSN-N527D | het unknown | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CDSN-N143S | het unknown | 0.787 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CDSN-M18L | het unknown | 0.188 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ADCY1-LA183RP | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ADCY1-G188Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | EYA4-G277S | het unknown | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | HOXA1-R73H | het unknown | 0.728 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GARS-P42A | het unknown | 0.744 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PMS2-K541E | het unknown | 0.874 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TNRC18-L2525V | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TNRC18-P2393L | het unknown | 0.091 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | TNRC18-N1676D | het unknown | 0.459 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TNRC18-L1396Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TNRC18-A998T | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.075 (benign) |
| 0.25 | CCM2-V120I | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SOD2-V16A | het unknown | 0.476 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC22A2-S270A | het unknown | 0.881 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | F13A1-P565L | het unknown | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GM2A-I59V | het unknown | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GM2A-M69V | het unknown | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | LARP1B-P462R | homozygous | 0.595 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.996 (probably damaging) |
| 0.25 | LARP1B-Y490Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | LARP1B-R660H | homozygous | 0.576 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DCHS2-E1833* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | DCHS2-S1205L | homozygous | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.993 (probably damaging) |
| 0.25 | DCHS2-N897S | homozygous | 0.891 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.25 | DCHS2-S344L | homozygous | 0.982 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CFTR-V470M | het unknown | 0.607 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TLR6-S249P | het unknown | 0.695 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SH3TC1-M1Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | SH3TC1-E682D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | SH3TC1-LAS773PAT | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | TLR1-S602I | het unknown | 0.485 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TLR1-N248S | het unknown | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | FGB-R478K | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SDHA-V657I | het unknown | 0.195 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.011 (benign), Testable gene in GeneTests |
| 0.25 | SH3TC2-A468S | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TCOF1-V887A | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TCOF1-A1353V | het unknown | 0.214 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | C5orf20-R117* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | C5orf20-N97D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C5orf20-T75P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | IL13-Q144R | het unknown | 0.811 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | VCAN-G428D | het unknown | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-K1516R | het unknown | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-R1826H | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-F2301Y | het unknown | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-D2937Y | het unknown | 0.388 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | WDR36-I264V | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | HSD17B4-W511R | het unknown | 0.154 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests |
| 0.25 | HSD17B4-I559V | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.111 (benign), Testable gene in GeneTests |
| 0.25 | LHCGR-N312S | het unknown | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ELMO3-K66Q | homozygous | 0.586 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ELMO3-N423I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ELMO3-Y435Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ELMO3-S712A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | GATM-Q110H | het unknown | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BBS4-I354T | het unknown | 0.529 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC28A2-P22L | het unknown | 0.474 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC28A2-S75R | het unknown | 0.497 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TTBK2-L8P | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GOLGA5-F350L | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GOLGA5-E623Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | SERPINA1-E400D | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SERPINA1-V237A | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LOXL1-G153D | het unknown | 0.221 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.135 (benign) |
| 0.25 | LOXL1-R417Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | SLC28A1-V189I | het unknown | 0.303 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC28A1-D521N | het unknown | 0.360 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GPR56-S281R | het unknown | 0.609 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ABCG8-Y54C | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests |
| 0.25 | ABCG8-V632A | het unknown | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | NOD2-P268S | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CD19-L174V | het unknown | 0.768 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYH11-A1241T | het unknown | 0.207 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SH2B1-T484A | het unknown | 0.343 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TC2N-K151T | het unknown | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | TC2N-K151T | het unknown | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | SIX6-H141N | het unknown | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT1-K633R | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | KRT1-S557G | het unknown | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MMAB-M239K | het unknown | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MMAB-R19Q | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT83-H493Y | het unknown | 0.751 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CELA1-Q243R | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CELA1-R44W | het unknown | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CELA1-Q10H | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.463 (possibly damaging) |
| 0.25 | CELA1-Y5P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CELA1-V3Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | GYS2-Q655H | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | GYS2-M363V | het unknown | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SETX-I2587V | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SETX-T1855A | het unknown | 0.310 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SETX-I1386V | het unknown | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SETX-G1252R | het unknown | 0.690 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SETX-D1192E | het unknown | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FKTN-R203Q | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | NCOR2-A2105G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NCOR2-L2100Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | RPGRIP1-K192E | het unknown | 0.483 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | RPGRIP1-A547S | het unknown | 0.232 | Complex/Other benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | RPGRIP1-E1033Q | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COCH-T352S | het unknown | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TEP1-I2486M | het unknown | 0.287 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TEP1-V2214I | het unknown | 0.276 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TEP1-N307K | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TEP1-S116P | het unknown | 0.385 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-V1140A | het unknown | 0.585 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-R952K | het unknown | 0.575 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-K832R | het unknown | 0.555 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-V456L | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-S406A | het unknown | 0.401 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SGCG-N287S | het unknown | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CENPJ-S879A | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CENPJ-P85T | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.021 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TK2-K30R | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ACOX1-I312M | het unknown | 0.505 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ZNF317-Q19H | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.25 | ZNF317-Q19H | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.25 | ICAM1-K469E | het unknown | 0.349 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | WDR18-Q38* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | WDR18-G43R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | LMAN1-V39A | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GPR20-H230R | het unknown | 0.828 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GPR20-P6Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | FECH-R102Q | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | IL12RB1-G378R | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | IL12RB1-M365T | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ZNF224-M118V | het unknown | 0.872 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF224-H162L | het unknown | 0.879 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging) |
| 0.25 | ZNF224-K640E | het unknown | 0.713 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OTOF-R82C | het unknown | 0.365 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | NAT2-I114T | het unknown | 0.398 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NAT2-R268K | het unknown | 0.581 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TPO-A257S | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CHRNA2-T125A | het unknown | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CD3EAP-K428Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CD3EAP-Q504K | het unknown | 0.259 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.25 | TMEM160-G120S | het unknown | 0.129 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.866 (probably damaging) |
| 0.25 | BCAT2-T186R | het unknown | 0.144 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.548 (possibly damaging), Testable gene in GeneTests |
| 0.25 | SGSH-R456H | het unknown | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | UNK-P83L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | UNK-S450Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MPDU1-A229T | het unknown | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GUCY2D-W21R | het unknown | 0.043 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.033 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | GUCY2D-A52S | het unknown | 0.210 | Recessive benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | GUCY2D-L782H | het unknown | 0.216 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FANCA-T266A | het unknown | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | LRRC50-K393R | het unknown | 0.378 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | LRRC50-P502L | het unknown | 0.301 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | LRRC50-L633S | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LRRC50-L659P | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NQO1-P187S | het unknown | 0.197 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.215 (possibly damaging) |
| 0.25 | DHODH-K7Q | het unknown | 0.542 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.25 | PFAS-P19S | het unknown | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PFAS-H156Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PFAS-L621P | het unknown | 0.686 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | COX10-T62S | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | COX10-R159Q | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | BRCA1-S1634G | het unknown | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BRCA1-K1183R | het unknown | 0.295 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BRCA1-E1038G | het unknown | 0.278 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | BRCA1-P871L | het unknown | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BRIP1-S919P | het unknown | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT14-A94T | het unknown | 0.440 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VPS13B-G3407R | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CNGB3-T298P | het unknown | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CNGB3-C234W | het unknown | 0.880 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0 | MBL2-R52C | het unknown | 0.049 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0 | BSCL2-I326Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0 | MEFV-R202Q | het unknown | 0.178 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview |
| 0 | SIAE-M89V | het unknown | 0.040 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,744,133,665 bases (96.0% of callable positions, 89.1% of total positions)
Coding region coverage: 31,133,276 bases (93.5% of all genes, 94.6% 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, chrY