Variant report for huBEDA0B
- Data source: CGI sample GS00253-DNA_C01_200_37
- This report: evidence.pgp-hms.org/genomes?c210668f253dbc9d5c95e503ebb18a265ec5d1e3
- Person ID: huBEDA0B
- public profile: my.pgp-hms.org/profile/huBEDA0B
- Download: source data, dbSNP and nsSNP report (143 MB)
- Processing status: processing
- Show debugging info
Log file:
| Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
|---|---|---|---|---|---|---|---|
| 1 | ABCA4-P1780A | High | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.000371816 | Reported to have caused Stargardt disease (progressive vision loss and blindness) in a recessive manner when seen in a single compound heterozygous case, but insufficient data makes it impossible to determine the significance of this report. | 1 |
| 2 | LRP5-V667M | High | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.0413646 | This variant has been implicated in causing osteoporosis-pseudoglioma syndrome in a recessive manner. The gene is strongly implicated in causing the disease, but an insufficient number of controls means this variant's observation lacks statistical significance. The condition manifests in childhood with early onset osteoporosis and eye problems. | 1 |
| 3 | C3-R102G | Moderate | Likely | Likely pathogenic Complex/Other, Heterozygous | 0.152073 | This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%. | 1 |
| 4 | COL4A1-Q1334H | Low | Likely | Likely pathogenic Dominant, Heterozygous | 0.324689 | This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%. | 1 |
| 5 | MTRR-I49M | Low | Likely | Likely pathogenic Recessive, Homozygous | 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 |
| 6 | 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 |
| 7 | rs5186 | Low | Likely | Likely pathogenic Unknown, Homozygous | 0.214878 | This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs. | 1 |
| 8 | SCNN1G-E197K | Low | Uncertain | Uncertain pathogenic Dominant, Heterozygous | 0.00641383 | May cause slight increased risk of rare, CFTR-like disease. | 1 |
| 9 | RNASEL-R462Q | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.278026 | Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases. | 1 |
| 10 | LRP5-A1330V | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.110367 | In a study of a UK population this variant was associated with a small increased risk of osteoporosis and osteoporotic bone fractures, with each copy of the variant presumed to have an additive effect. A study in Chinese young men failed to find an association with peak bone density. | 1 |
| 11 | TP53-P72R | Low | Uncertain | Uncertain pathogenic Unknown, Heterozygous | 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 |
| 12 | CLEC7A-Y238X | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.0632088 | This variant has been found to impair homan mucosal antifungal defense and was implicated in vulvovaginal candidiasis and mucocutaneous infections in a Dutch family. | 1 |
| 13 | 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 |
| 14 | ITPA-P32T | Low | Well-established | Well-established pharmacogenetic Recessive, Carrier (Heterozygous) | 0.0609779 | This variant is associated with inosine triphosphate pyrophosphohydrolase deficiency and may be associated with an adverse reaction to thiopurine drugs (which are used as immunosuppressants). Homozygotes have no detectable ITPase activity, individuals compound heterozygous with another less severe mutation also have severely reduced enzyme activity. | 1 |
| 15 | ABCC6-R1268Q | Low | Uncertain | Uncertain pharmacogenetic Unknown, Heterozygous | 0.218907 | This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity. | 1 |
| 16 | rs1544410 | Low | Uncertain | Uncertain pharmacogenetic Unknown, Heterozygous | 0.351562 | rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. | 1 |
| 17 | FUT2-W154X | Moderate | Well-established | Well-established protective Recessive, Carrier (Heterozygous) | 0.490519 | This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors. | 1 |
| 18 | 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 |
| 19 | NPC1-H215R | Low | Likely | Likely protective Complex/Other, Homozygous | 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 |
| 20 | 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 |
| 21 | TTR-T139M | Low | Uncertain | Uncertain protective Dominant, Heterozygous | 0.00241681 | This variant is reported to have a protective effect in carriers of the V30M variant in this gene -- V30M causes familial amyloidosis, but this variant appears to protect against that pathogenic effect. | 1 |
| 22 | TGFB1-T263I | Low | Uncertain | Uncertain protective Dominant, Heterozygous | 0.0205429 | Carriers may be less likely to have cleft lip and palate congenital deformity. | 1 |
| 23 | EFHC1-R182H | Low | Likely | Likely benign Unknown, Heterozygous | 0.0439673 | Probably benign. OMIM appears to incorrectly interpret literature as linking this variant to juvenile myoclonic epilepsy; the authors report it as a polymorphism. | 1 |
| 24 | PMS2-P470S | Low | Likely | Likely benign Unknown, Homozygous | 0.374884 | Benign, common variant. | 1 |
| 25 | CACNA1S-L458H | Low | Likely | Likely benign Unknown, Heterozygous | 0.27282 | Common polymorphism | 1 |
| 26 | FANCA-M717I | Low | Likely | Likely benign Unknown, Heterozygous | 0.0216583 | Rare polymorphism, not considered pathogenic. | 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 | BRCA1-R1347G | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.00427589 | Believed to be a nonpathogenic polymorphism, although Polyphen 2 predicts a damaging effect. | 1 |
| 29 | FLG-H2463D | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.00650678 | Tentatively evaluated as benign. Other, much more severe null mutations cause increased susceptibility ichthyosis vulgaris, atopic eczema, and allergies. | 1 |
| 30 | ALK-L1033P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0078125 | Tentatively evaluated as nonpathogenic, although other disruptive variants are associated with familial neuroblastoma. | 1 |
| 31 | PMS1-Y90Shift | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0078125 | This variant is tentatively evaluated as benign, as the only publications linking mutations in this gene to disease have been contradicted. | 1 |
| 32 | NOTCH3-P496L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.015625 | Presumed benign, seen in two healthy PGP participants. | 1 |
| 33 | LRRK2-N2081D | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0135738 | Reported as a rare, nonpathogenic variant. | 1 |
| 34 | DCTN1-R1049Q | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.00139431 | Although rare and predicted to have a damaging effect, Vilarino-Guell et al. find the variant did not segregate with neurological disease and conclude it is not deleterious. | 1 |
| 35 | COL7A1-P1277L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0407139 | Polymorphism, presumed benign. | 1 |
| 36 | TPCN2-G734E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.286166 | Pigmentation allele. | 1 |
| 37 | PCSK9-G670E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.888269 | This variant is likely benign. | 1 |
| 38 | CBLC-H405Y | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0374605 | Probably benign. | 1 |
| 39 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
| 40 | 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 |
| 41 | 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 |
| 42 | HTRA2-G399S | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.00362521 | Although one group reported this variant as being associated with Parkinson’s disease, their screen lacked statistical significance and later studies have found equal frequencies of this variant in unaffected controls. Knockout of this gene is reported to cause parkinsonianism in mice, but another functional study found no impact on the mitochondrial pathway they implicate as being causal in Parkinson’s. | 1 |
| 43 | GALT-N314D | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.0716676 | This variant has an allele frequency of ~8% and is ancestral to "Duarte" / "Duarte 2" and "Duarte 1"/"Los Angeles" galactosemia variants. This variant is evolutionarily ancestral, and in vitro studies fail to support an impact of this variant on enzyme activity. Carney et al. instead implicate a 4 base deletion on the 5' of the GALT gene as being causal and linked to this variant. Galactosemia is typically screened and detected in infants and causes early, severe but nonspecific symptoms (digestive problems, lethargy, failure to thrive). | 1 |
| 44 | 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 |
| 45 | FKTN-N446D | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.00901654 | Probably benign. | 1 |
| Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
|---|
Exome coverage: 31497005 / 33212919 = 94.83%
| Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
|---|---|---|---|---|---|---|
| 1 | AGRN | 1 | 0.76702508960573 | 1430 | 6138 | 955553-955753, 957758, 970696-970697, 976064-976065, 976074-976080, 976110-976119, 976122, 976135, 976140-976142, 976201-976260, 976553-976777, 976858-976920, 976937-976984, 977020-977067, 977080-977082, 977394-977417, 977486, 977501-977507, 977511-977512, 977527-977528, 978693-978730, 978743-978788, 979023-979064, 979334, 979339, 979379-979380, 979383-979384, 979391, 979394, 981792-981793, 981797, 981811-981826, 981833, 981836-981847, 981850-981888, 981891-981900, 981915-981928, 981931-981933, 981945-981977, 981980, 981985, 981987-981991, 981996, 981998, 982000-982006, 982023-982036, 982045-982052, 982064-982067, 982077-982082, 982276, 983392-983403, 983421-983424, 983428-983431, 983444-983446, 983449-983477, 983485-983493, 983496-983498, 983500, 983503, 983516-983521, 983528, 983565-983745, 984256, 984310, 984335-984342, 984346-984349, 984353-984372, 984381-984386, 984415, 984418-984421, 984428, 984701, 985175, 985340-985345, 985362-985382, 985386, 985417, 985642-985645, 985685-985691, 985703, 985849-985855, 986689, 986692-986693, 986697, 986710, 986833-986856, 986868-986890, 986958, 987128, 989900 |
| 2 | GABRD | 1 | 0.94701986754967 | 72 | 1359 | 1950863-1950930, 1961010-1961011, 1961508, 1961515 |
| 3 | PEX10 | 1 | 0.82976554536188 | 167 | 981 | 2337923-2337937, 2337943-2337958, 2339998, 2340001, 2340004-2340005, 2340008-2340020, 2340200-2340204, 2340211-2340212, 2343830-2343941 |
| 4 | NPHP4 | 1 | 0.97594020088764 | 103 | 4281 | 5923968, 5923972, 5925254-5925256, 5935068-5935098, 5935151-5935154, 5935157-5935158, 5937227, 5937230-5937238, 5937246, 5937249, 5937254-5937261, 5950949, 5950954-5950956, 5950960-5950962, 5950967, 5950973, 5964753-5964761, 6012871-6012877, 6021868-6021882, 6021885 |
| 5 | ESPN | 1 | 0.61052631578947 | 999 | 2565 | 6485016-6485224, 6485243-6485244, 6485255-6485289, 6485295, 6485298-6485302, 6488386-6488392, 6500361-6500394, 6500406-6500440, 6500450-6500486, 6500499, 6500686-6500868, 6501015-6501046, 6501058-6501061, 6505840-6505868, 6505888-6505920, 6505931-6505937, 6505990, 6508701-6508702, 6508720-6508721, 6508732, 6508738, 6508752, 6508803-6509111, 6509135, 6511703-6511709, 6511956, 6520109-6520127 |
| 6 | PLEKHG5 | 1 | 0.86139855754155 | 442 | 3189 | 6528266, 6529183-6529185, 6529702, 6530336-6530352, 6530628-6530633, 6530639, 6530795-6530822, 6530839-6530853, 6530868-6530880, 6530898-6530900, 6531081-6531088, 6531112-6531159, 6531589-6531598, 6531602, 6531621-6531627, 6531825, 6532665-6532671, 6533411, 6533414-6533415, 6533417, 6534073-6534224, 6534511-6534612, 6537672-6537675, 6537680-6537684, 6537687, 6557380-6557383 |
| 7 | KIF1B | 1 | 0.99435347261434 | 30 | 5313 | 10357017-10357026, 10357031-10357040, 10383964-10383965, 10425557-10425564 |
| 8 | PEX14 | 1 | 0.97178130511464 | 32 | 1134 | 10535051-10535059, 10659338, 10659342-10659346, 10684435, 10684438-10684439, 10684443, 10684446-10684451, 10684478-10684483, 10689965 |
| 9 | TARDBP | 1 | 0.99437751004016 | 7 | 1245 | 11082356-11082362 |
| 10 | MASP2 | 1 | 0.99757399320718 | 5 | 2061 | 11094895, 11105499, 11105503-11105504, 11106782 |
| 11 | MTHFR | 1 | 0.99036022323694 | 19 | 1971 | 11853984-11853990, 11854531-11854535, 11861303-11861306, 11863117-11863119 |
| 12 | PLOD1 | 1 | 0.97481684981685 | 55 | 2184 | 11994837-11994878, 11994882, 11994889-11994891, 11994896, 12009874-12009876, 12010467-12010469, 12010475, 12023675 |
| 13 | CTRC | 1 | 0.99504337050805 | 4 | 807 | 15771126-15771127, 15771135, 15771144 |
| 14 | CLCNKA | 1 | 0.96220930232558 | 78 | 2064 | 16349191, 16349194, 16352688-16352691, 16352714, 16353031-16353039, 16353075-16353079, 16353220-16353270, 16355702, 16357064, 16358271, 16358962, 16358965-16358966 |
| 15 | CLCNKB | 1 | 0.99418604651163 | 12 | 2064 | 16375059, 16375063-16375064, 16378793-16378794, 16378851-16378857 |
| 16 | ATP13A2 | 1 | 0.9805249788315 | 69 | 3543 | 17312802, 17313334, 17313343, 17313585-17313630, 17313649-17313654, 17322608-17322617, 17326743, 17332254, 17332257-17332258 |
| 17 | SDHB | 1 | 0.99406880189798 | 5 | 843 | 17354266-17354270 |
| 18 | ALDH4A1 | 1 | 0.99527186761229 | 8 | 1692 | 19202926-19202928, 19228985-19228987, 19228993, 19228998 |
| 19 | PINK1 | 1 | 0.7766323024055 | 390 | 1746 | 20960042-20960428, 20972107-20972108, 20972121 |
| 20 | ALPL | 1 | 0.98539682539683 | 23 | 1575 | 21889635-21889636, 21889641-21889645, 21889654-21889655, 21903910, 21903917-21903919, 21904074-21904079, 21904138-21904141 |
| 21 | HSPG2 | 1 | 0.98087431693989 | 252 | 13176 | 22149818-22149827, 22149956, 22155539, 22155546-22155548, 22155559, 22157506-22157512, 22165387-22165393, 22165416-22165419, 22165437, 22165453, 22165897, 22165914, 22165931-22165933, 22166402-22166408, 22170701, 22176634, 22176942-22176943, 22176966-22176972, 22181416, 22182026, 22182043, 22182048, 22182053, 22183825, 22183828, 22191393, 22191439-22191442, 22191454, 22198700-22198702, 22199113-22199157, 22199166-22199189, 22199508, 22199511, 22199517, 22199523-22199525, 22202231-22202240, 22206999-22207008, 22207013, 22211156-22211160, 22214014-22214026, 22263648-22263710 |
| 22 | WNT4 | 1 | 0.91856060606061 | 86 | 1056 | 22446619-22446621, 22446719, 22446743-22446745, 22446855, 22446858, 22469339-22469415 |
| 23 | RPL11 | 1 | 0.99068901303538 | 5 | 537 | 24022379-24022383 |
| 24 | GALE | 1 | 0.99904489016237 | 1 | 1047 | 24122679 |
| 25 | FUCA1 | 1 | 0.88151320485368 | 166 | 1401 | 24194394-24194398, 24194421-24194428, 24194431-24194437, 24194442, 24194457-24194465, 24194473-24194513, 24194517-24194523, 24194530-24194533, 24194550-24194569, 24194628-24194638, 24194689-24194730, 24194743-24194753 |
| 26 | LDLRAP1 | 1 | 0.90507011866235 | 88 | 927 | 25870190-25870277 |
| 27 | SEPN1 | 1 | 0.89028776978417 | 183 | 1668 | 26126722-26126904 |
| 28 | YARS | 1 | 0.99747952110901 | 4 | 1587 | 33251965-33251968 |
| 29 | HPCA | 1 | 0.92955326460481 | 41 | 582 | 33359162, 33359165, 33359169, 33359370-33359380, 33359392-33359401, 33359412-33359417, 33359424, 33359439-33359447, 33359456 |
| 30 | GJB3 | 1 | 0.99384993849938 | 5 | 813 | 35251075-35251079 |
| 31 | COL9A2 | 1 | 0.97729468599034 | 47 | 2070 | 40766961, 40768394, 40768402, 40769500, 40769504, 40777181-40777182, 40777214, 40777357, 40777360, 40781293-40781302, 40781305, 40782839-40782855, 40782861-40782869 |
| 32 | KCNQ4 | 1 | 0.80842911877395 | 400 | 2088 | 41249766-41250009, 41250052, 41284177-41284199, 41284228, 41284242-41284248, 41284254, 41284266, 41284274-41284352, 41285020-41285022, 41303983-41304005, 41304038-41304042, 41304045, 41304056, 41304066-41304068, 41304133-41304139 |
| 33 | CLDN19 | 1 | 0.97185185185185 | 19 | 675 | 43201551, 43201557, 43201561-43201562, 43201565-43201568, 43201572-43201579, 43201585-43201586, 43205572 |
| 34 | LEPRE1 | 1 | 0.82948891904116 | 377 | 2211 | 43212431-43212435, 43215927-43215933, 43232181-43232227, 43232237-43232468, 43232479-43232538, 43232554-43232577, 43232617, 43232626 |
| 35 | SLC2A1 | 1 | 0.97227856659905 | 41 | 1479 | 43394664, 43395264, 43395273-43395280, 43395285-43395291, 43395295-43395299, 43395654, 43424305-43424322 |
| 36 | MPL | 1 | 0.95649895178197 | 83 | 1908 | 43805648-43805652, 43805711-43805720, 43806157-43806161, 43806172-43806184, 43814514-43814524, 43814527, 43814533-43814534, 43814967, 43814970-43814981, 43814985-43815006, 43815014 |
| 37 | MUTYH | 1 | 0.99235181644359 | 12 | 1569 | 45798071, 45798300, 45798313-45798314, 45798318, 45799222-45799224, 45799233-45799236 |
| 38 | STIL | 1 | 0.99094905611585 | 35 | 3867 | 47737865, 47746791-47746798, 47748075, 47748119-47748125, 47753331-47753332, 47759193-47759197, 47759206-47759207, 47765693-47765700, 47765703 |
| 39 | ORC1 | 1 | 0.99497293116783 | 13 | 2586 | 52850314-52850318, 52850326-52850333 |
| 40 | CPT2 | 1 | 0.97673242286292 | 46 | 1977 | 53662616-53662620, 53662626-53662627, 53662630-53662641, 53662696, 53662702-53662712, 53662716-53662723, 53662760-53662766 |
| 41 | DHCR24 | 1 | 0.85041908446164 | 232 | 1551 | 55319732, 55352562-55352792 |
| 42 | BSND | 1 | 0.98546209761163 | 14 | 963 | 55464860, 55472790-55472802 |
| 43 | PCSK9 | 1 | 0.97402597402597 | 54 | 2079 | 55505526, 55505540-55505545, 55505549-55505554, 55505563-55505572, 55505590-55505597, 55521755-55521760, 55521763-55521765, 55521770-55521773, 55521780, 55524237, 55529198, 55529209-55529215 |
| 44 | LEPR | 1 | 0.99771297884505 | 8 | 3498 | 66058454, 66067265, 66083687, 66083690-66083691, 66083697, 66083700, 66083823 |
| 45 | RPE65 | 1 | 0.99937578027466 | 1 | 1602 | 68904650 |
| 46 | CTH | 1 | 0.99835796387521 | 2 | 1218 | 70881639, 70897817 |
| 47 | ACADM | 1 | 0.98904538341158 | 14 | 1278 | 76198383-76198384, 76205727-76205737, 76228447 |
| 48 | GLMN | 1 | 0.99495798319328 | 9 | 1785 | 92712684-92712690, 92732278, 92732288 |
| 49 | RPL5 | 1 | 0.99440715883669 | 5 | 894 | 93300451, 93307410, 93307413-93307415 |
| 50 | ABCA4 | 1 | 0.99076517150396 | 63 | 6822 | 94461677-94461685, 94473831, 94473842, 94473845-94473846, 94495012-94495018, 94496559, 94497410, 94497413-94497415, 94497490-94497497, 94522166-94522167, 94522178-94522179, 94544146-94544170, 94564505 |
| 51 | DPYD | 1 | 0.98830409356725 | 36 | 3078 | 97770843-97770844, 97847979-97848002, 97848012-97848017, 97915712, 97915722-97915724 |
| 52 | AGL | 1 | 0.99695585996956 | 14 | 4599 | 100361890, 100361903, 100361906-100361907, 100376275-100376278, 100377961, 100377972, 100377975-100377978 |
| 53 | COL11A1 | 1 | 0.96298332417079 | 202 | 5457 | 103354138, 103354154, 103363693-103363699, 103364222-103364248, 103364264-103364303, 103364497, 103364530-103364535, 103364542, 103364549-103364550, 103377766-103377768, 103380273, 103380334, 103388892-103388895, 103412439, 103412448, 103412472-103412478, 103435775-103435780, 103435783, 103435790, 103435803-103435805, 103435812-103435816, 103440423-103440430, 103455096, 103471647, 103471821-103471866, 103471869, 103488310, 103488318, 103488321-103488322, 103488326-103488328, 103496672-103496686, 103544347-103544349 |
| 54 | GSTM1 | 1 | 0.11567732115677 | 581 | 657 | 110230496-110230531, 110230792-110230867, 110231295-110231359, 110231670-110231751, 110231847-110231947, 110232893-110232988, 110233076-110233186, 110235904-110235917 |
| 55 | AMPD1 | 1 | 0.99955436720143 | 1 | 2244 | 115236067 |
| 56 | NGF | 1 | 0.9931129476584 | 5 | 726 | 115828713, 115829258-115829261 |
| 57 | VANGL1 | 1 | 0.99873015873016 | 2 | 1575 | 116226622, 116226630 |
| 58 | CASQ2 | 1 | 0.99666666666667 | 4 | 1200 | 116275522-116275525 |
| 59 | HSD3B2 | 1 | 0.99285075960679 | 8 | 1119 | 119964514-119964521 |
| 60 | PHGDH | 1 | 0.99937578027466 | 1 | 1602 | 120278024 |
| 61 | NOTCH2 | 1 | 0.96750269687163 | 241 | 7416 | 120465326-120465328, 120539665-120539714, 120539739-120539745, 120539778-120539784, 120539913-120539939, 120547962-120547968, 120548022-120548058, 120548091-120548097, 120572544-120572575, 120611948-120611967, 120611977-120612020 |
| 62 | HFE2 | 1 | 0.99531615925059 | 6 | 1281 | 145415747-145415751, 145415825 |
| 63 | PRPF3 | 1 | 0.9995126705653 | 1 | 2052 | 150315905 |
| 64 | FLG | 1 | 0.9976202199245 | 29 | 12186 | 152275367-152275368, 152276255-152276256, 152276267, 152277436, 152278434, 152279210, 152279373, 152279406, 152282128-152282131, 152282305, 152284553-152284565, 152285048 |
| 65 | CHRNB2 | 1 | 0.93306825712392 | 101 | 1509 | 154540521, 154540527, 154540532-154540534, 154540537-154540542, 154540559, 154544122-154544124, 154544349-154544355, 154544361, 154544364, 154544378-154544431, 154544443-154544452, 154544535-154544538, 154544572-154544575, 154544581-154544582, 154544586-154544587, 154544591 |
| 66 | PKLR | 1 | 0.98724637681159 | 22 | 1725 | 155269983, 155269990-155270001, 155270003-155270008, 155270017-155270018, 155270034 |
| 67 | LMNA | 1 | 0.94708994708995 | 30 | 567 | 156105043-156105066, 156105080-156105082, 156105763-156105764, 156106132 |
| 68 | LMNA | 1 | 0.97944862155388 | 41 | 1995 | 156084726-156084728, 156084946, 156084965, 156084982, 156105043-156105066, 156105080-156105082, 156105763-156105764, 156106132, 156108305-156108309 |
| 69 | SEMA4A | 1 | 0.98075240594926 | 44 | 2286 | 156124433-156124447, 156131137-156131161, 156131217-156131218, 156131228, 156131240 |
| 70 | NTRK1 | 1 | 0.94521120869929 | 131 | 2391 | 156830727-156830834, 156830856-156830857, 156830868, 156830871-156830874, 156830900, 156830903-156830906, 156843473-156843476, 156848970-156848974, 156848989-156848990 |
| 71 | KCNJ10 | 1 | 0.99210526315789 | 9 | 1140 | 160012060-160012063, 160012069-160012073 |
| 72 | ATP1A2 | 1 | 0.99902056807052 | 3 | 3063 | 160100303-160100305 |
| 73 | PPOX | 1 | 0.99163179916318 | 12 | 1434 | 161136657-161136662, 161136674-161136678, 161138948 |
| 74 | NDUFS2 | 1 | 0.99568965517241 | 6 | 1392 | 161172214, 161172219, 161180381-161180384 |
| 75 | MPZ | 1 | 0.8970398970399 | 80 | 777 | 161275736-161275742, 161275906-161275908, 161276141-161276165, 161276186-161276187, 161279645-161279649, 161279683-161279720 |
| 76 | DDR2 | 1 | 0.99961059190031 | 1 | 2568 | 162749945 |
| 77 | TBX19 | 1 | 0.99331848552339 | 9 | 1347 | 168282140-168282148 |
| 78 | SLC19A2 | 1 | 0.9330655957162 | 100 | 1494 | 169454829-169454853, 169454862-169454863, 169454866, 169454885-169454888, 169454891-169454892, 169454926-169454991 |
| 79 | F5 | 1 | 0.99880149812734 | 8 | 6675 | 169510337-169510343, 169515815 |
| 80 | MYOC | 1 | 0.99405940594059 | 9 | 1515 | 171605261, 171621203-171621210 |
| 81 | FASLG | 1 | 0.99763593380615 | 2 | 846 | 172628346, 172628349 |
| 82 | DARS2 | 1 | 0.99587203302374 | 8 | 1938 | 173794454-173794461 |
| 83 | NPHS2 | 1 | 0.87847222222222 | 140 | 1152 | 179544785-179544789, 179544819-179544826, 179544865-179544867, 179544870-179544876, 179544883-179544999 |
| 84 | LHX4 | 1 | 0.97442455242967 | 30 | 1173 | 180199665-180199688, 180199698-180199701, 180199706, 180199715 |
| 85 | RNASEL | 1 | 0.98023360287511 | 44 | 2226 | 182555455-182555459, 182555785-182555823 |
| 86 | LAMC2 | 1 | 0.98883305415969 | 40 | 3582 | 183155494-183155505, 183177111-183177117, 183184691, 183205620, 183208602-183208610, 183208619-183208622, 183208629-183208634 |
| 87 | HMCN1 | 1 | 0.99739768157085 | 44 | 16908 | 185704033-185704039, 185970480-185970482, 185970828, 185970832-185970835, 185976312, 185976326, 185976337-185976342, 186008075-186008076, 186052066-186052068, 186052072, 186086648-186086652, 186101491, 186101506-186101508, 186101520, 186101523, 186113766-186113769 |
| 88 | PDC | 1 | 0.9919028340081 | 6 | 741 | 186418586-186418591 |
| 89 | CDC73 | 1 | 0.99874686716792 | 2 | 1596 | 193091332, 193091345 |
| 90 | CFH | 1 | 0.995670995671 | 16 | 3696 | 196642987, 196658695, 196658720-196658722, 196658726-196658730, 196658733-196658737, 196697517 |
| 91 | CFHR5 | 1 | 0.99883040935673 | 2 | 1710 | 196953095, 196963319 |
| 92 | ASPM | 1 | 0.98936170212766 | 111 | 10434 | 197057498-197057505, 197057516-197057526, 197060037, 197065157, 197069712-197069714, 197073811, 197101469, 197101477, 197113135, 197115466-197115511, 197115519-197115555 |
| 93 | CRB1 | 1 | 0.99857853589197 | 6 | 4221 | 197316597, 197325991-197325992, 197411420-197411422 |
| 94 | CACNA1S | 1 | 0.98932764140875 | 60 | 5622 | 201009369, 201009379-201009383, 201009796-201009841, 201081451-201081458 |
| 95 | CHIT1 | 1 | 0.99571734475375 | 6 | 1401 | 203186078, 203192362-203192366 |
| 96 | CD46 | 1 | 0.9875 | 15 | 1200 | 207930926-207930927, 207943666-207943668, 207943687-207943696 |
| 97 | LAMB3 | 1 | 0.98408638817846 | 56 | 3519 | 209788684-209788706, 209788731-209788740, 209790903, 209790906, 209790909-209790915, 209790918-209790920, 209796341, 209796344, 209796363-209796368, 209796384, 209797005, 209797008 |
| 98 | IRF6 | 1 | 0.9957264957265 | 6 | 1404 | 209969811-209969816 |
| 99 | RD3 | 1 | 0.99829931972789 | 1 | 588 | 211652658 |
| 100 | USH2A | 1 | 0.99250432442821 | 117 | 15609 | 215848051, 215848054, 215916519-215916523, 215916559-215916576, 215916597-215916633, 215956200-215956222, 216061814, 216061836, 216138791, 216251454, 216251459-216251464, 216251467, 216251471-216251484, 216251491, 216405362-216405363, 216424376, 216595345, 216595471-216595472 |
| 101 | LBR | 1 | 0.9978354978355 | 4 | 1848 | 225592145, 225592158-225592159, 225607144 |
| 102 | PSEN2 | 1 | 0.99406087602079 | 8 | 1347 | 227071515-227071518, 227071521, 227071525, 227071583-227071584 |
| 103 | ADCK3 | 1 | 0.99331275720165 | 13 | 1944 | 227171795-227171806, 227172354 |
| 104 | GJC2 | 1 | 0.20833333333333 | 1045 | 1320 | 228345460-228345462, 228345470-228345476, 228345481, 228345486-228345490, 228345493, 228345496-228345497, 228345501-228345507, 228345514-228345672, 228345683-228345712, 228345721-228345948, 228345954-228345993, 228346017-228346224, 228346231-228346270, 228346283-228346289, 228346339-228346640, 228346674, 228346680, 228346707-228346708, 228346750 |
| 105 | ACTA1 | 1 | 0.78218694885362 | 247 | 1134 | 229567500, 229567777-229567778, 229567781-229567790, 229567802-229567805, 229567816-229567822, 229567856-229567932, 229568017-229568090, 229568099-229568144, 229568154-229568178, 229568467 |
| 106 | GNPAT | 1 | 0.99118942731278 | 18 | 2043 | 231398476-231398483, 231398488, 231398493-231398501 |
| 107 | LYST | 1 | 0.99544099596703 | 52 | 11406 | 235856772, 235866141-235866143, 235897873, 235944232-235944240, 235944244, 235944258, 235944265, 235944269-235944273, 235944286-235944301, 235950547-235950552, 235950558, 235956827, 235969149-235969150, 235969162, 235969208, 235972294, 235972297 |
| 108 | ACTN2 | 1 | 0.93780260707635 | 167 | 2685 | 236849974-236850099, 236898983-236898985, 236900422-236900426, 236914801-236914809, 236917299-236917302, 236924413-236924432 |
| 109 | MTR | 1 | 0.98578199052133 | 54 | 3798 | 237013694-237013735, 237054569, 237054574-237054578, 237058744, 237058751, 237058754-237058756, 237060343 |
| 110 | RYR2 | 1 | 0.98805689747719 | 178 | 14904 | 237205822-237205869, 237632457-237632458, 237632462-237632463, 237656268-237656282, 237656362, 237656368-237656371, 237664055, 237666741, 237729875, 237791117-237791118, 237791132, 237791136, 237791218-237791230, 237801711-237801714, 237821248, 237821253, 237821256, 237821259-237821264, 237821269-237821289, 237821306-237821309, 237838087, 237863662, 237881765, 237881767, 237881770, 237881776, 237919648-237919654, 237958619-237958631, 237972259-237972280 |
| 111 | FH | 1 | 0.955642530985 | 68 | 1533 | 241661142, 241661163, 241661182-241661183, 241663862-241663871, 241663890, 241669319-241669320, 241672038-241672064, 241675337-241675338, 241676904-241676909, 241676914, 241676918-241676923, 241682892, 241682948-241682950, 241682965-241682968, 241682971 |
| 112 | NET1 | 10 | 0.95309882747069 | 84 | 1791 | 5454656-5454675, 5454694-5454703, 5454705-5454708, 5454711-5454719, 5454735, 5454737-5454740, 5454742-5454752, 5454767-5454775, 5454782-5454783, 5497030-5497042, 5498151 |
| 113 | GATA3 | 10 | 0.96704119850187 | 44 | 1335 | 8097642, 8097680, 8097717-8097722, 8097737, 8097740, 8097839-8097844, 8097851-8097853, 8097857-8097859, 8100539, 8100724, 8100735, 8100740, 8100742-8100752, 8106091-8106097 |
| 114 | OPTN | 10 | 0.99942329873126 | 1 | 1734 | 13151250 |
| 115 | PHYH | 10 | 0.92133726647001 | 80 | 1017 | 13330372-13330373, 13330442-13330444, 13341968-13342042 |
| 116 | DCLRE1C | 10 | 0.999518999519 | 1 | 2079 | 14970033 |
| 117 | CUBN | 10 | 0.9927336276674 | 79 | 10872 | 16878344, 16882329-16882348, 16882357-16882386, 16970242-16970243, 16970248, 16982217-16982219, 16990551, 16990557-16990559, 17085888-17085889, 17085937, 17085946, 17110609, 17142072, 17142093-17142097, 17142114, 17146456-17146461 |
| 118 | PTF1A | 10 | 0.24620060790274 | 744 | 987 | 23481460-23482195, 23482769-23482776 |
| 119 | MYO3A | 10 | 0.99979385693671 | 1 | 4851 | 26500842 |
| 120 | PDSS1 | 10 | 0.91185897435897 | 110 | 1248 | 26986651-26986655, 26986662-26986670, 26986678-26986763, 26986766, 26994265-26994266, 26994314, 27035296-27035297, 27035300-27035303 |
| 121 | RET | 10 | 0.96651718983558 | 112 | 3345 | 43572707-43572779, 43595968-43595972, 43595982, 43596000-43596003, 43596023-43596027, 43596033, 43596036-43596037, 43600588-43600590, 43600593, 43600602-43600611, 43600615, 43600624-43600626, 43600633-43600634, 43606860 |
| 122 | ERCC6 | 10 | 0.98750557786702 | 56 | 4482 | 50667090, 50669478, 50669481, 50691447, 50691459, 50691462-50691464, 50708640, 50738813-50738818, 50738823, 50738828-50738833, 50740797-50740825, 50740839, 50740850-50740853 |
| 123 | CHAT | 10 | 0.88072986203827 | 268 | 2247 | 50822262-50822437, 50822450-50822498, 50827806-50827807, 50833656-50833658, 50833665-50833669, 50833672, 50835775, 50857558-50857586, 50870722, 50872823 |
| 124 | PCDH15 | 10 | 0.98200033961623 | 106 | 5889 | 55582339-55582345, 55582696-55582698, 55587157, 55587191-55587222, 55587231-55587241, 55626458-55626485, 55782822, 55973743-55973765 |
| 125 | EGR2 | 10 | 0.9601677148847 | 57 | 1431 | 64573009-64573014, 64573020-64573026, 64573033-64573040, 64573355-64573368, 64573483-64573504 |
| 126 | KIAA1279 | 10 | 0.997320471597 | 5 | 1866 | 70748708-70748709, 70748712, 70768626, 70768631 |
| 127 | NODAL | 10 | 0.977969348659 | 23 | 1044 | 72201231-72201243, 72201326-72201330, 72201355-72201359 |
| 128 | PRF1 | 10 | 0.98860911270983 | 19 | 1668 | 72358428-72358430, 72358658, 72358891-72358897, 72360333-72360340 |
| 129 | PCBD1 | 10 | 0.99047619047619 | 3 | 315 | 72648288-72648290 |
| 130 | SLC29A3 | 10 | 0.99509803921569 | 7 | 1428 | 73082573, 73082622-73082625, 73111485, 73111488 |
| 131 | CDH23 | 10 | 0.9895584725537 | 105 | 10056 | 73270966, 73326555-73326567, 73375328-73375331, 73462369, 73464764-73464766, 73464781, 73537494-73537524, 73548785-73548799, 73565739-73565740, 73565934, 73565937, 73565942-73565950, 73565962, 73566027-73566031, 73566034-73566035, 73571712-73571713, 73571724-73571726, 73574842-73574849, 73574904-73574905 |
| 132 | PSAP | 10 | 0.99809523809524 | 3 | 1575 | 73587896-73587898 |
| 133 | VCL | 10 | 0.97621145374449 | 81 | 3405 | 75757966, 75757986-75757992, 75758005-75758009, 75758015-75758017, 75758021, 75758028-75758029, 75758038, 75758081, 75758086, 75758089-75758133, 75834510, 75854114, 75854127, 75864953-75864954, 75871683-75871684, 75873961, 75873963-75873968 |
| 134 | RGR | 10 | 0.99774774774775 | 2 | 888 | 86008690-86008691 |
| 135 | LDB3 | 10 | 0.97161172161172 | 62 | 2184 | 88441434, 88476091, 88476113-88476114, 88476152, 88476165-88476190, 88476201-88476205, 88476275, 88476297-88476298, 88476415-88476426, 88476432-88476442 |
| 136 | GLUD1 | 10 | 0.74299344066786 | 431 | 1677 | 88836365, 88854082-88854323, 88854339-88854526 |
| 137 | LIPA | 10 | 0.9975 | 3 | 1200 | 90974620-90974621, 90988044 |
| 138 | LGI1 | 10 | 0.99940262843489 | 1 | 1674 | 95553030 |
| 139 | PLCE1 | 10 | 0.99971052250688 | 2 | 6909 | 95994014, 96006357 |
| 140 | ZFYVE27 | 10 | 0.98867313915858 | 14 | 1236 | 99512876, 99512879-99512882, 99512902, 99512905, 99512909-99512915 |
| 141 | HPS1 | 10 | 0.98528015194682 | 31 | 2106 | 100177360-100177383, 100177386, 100177393-100177396, 100179896, 100190427 |
| 142 | COX15 | 10 | 0.99837793998378 | 2 | 1233 | 101474452, 101480778 |
| 143 | ABCC2 | 10 | 0.9997843898232 | 1 | 4638 | 101557025 |
| 144 | PAX2 | 10 | 0.95842956120092 | 54 | 1299 | 102566307-102566322, 102586766, 102586844, 102587331, 102587334-102587335, 102587345-102587350, 102587352-102587358, 102587400-102587414, 102587418-102587419, 102587429-102587431 |
| 145 | FBXW4 | 10 | 0.77885391444713 | 274 | 1239 | 103371118-103371143, 103371146, 103371149-103371158, 103371161, 103436142, 103436145, 103454138-103454340, 103454354-103454384 |
| 146 | HPS6 | 10 | 0.78865979381443 | 492 | 2328 | 103825232-103825578, 103825596, 103825610-103825611, 103825623-103825627, 103825636-103825643, 103825649-103825659, 103825665-103825668, 103825705-103825732, 103825747, 103825758-103825779, 103825790-103825815, 103825840-103825841, 103826019, 103826024-103826025, 103826065, 103826068-103826072, 103826678, 103826987-103827008, 103827025, 103827253, 103827444 |
| 147 | SUFU | 10 | 0.92646048109966 | 107 | 1455 | 104263910-104264008, 104264034-104264036, 104264087-104264091 |
| 148 | COL17A1 | 10 | 0.99065420560748 | 42 | 4494 | 105798187, 105798196, 105816786, 105816796-105816799, 105816808-105816827, 105816831-105816834, 105816846, 105816864, 105816867, 105816873-105816878, 105816905, 105816916 |
| 149 | SHOC2 | 10 | 0.99942824471126 | 1 | 1749 | 112724765 |
| 150 | HABP2 | 10 | 0.9982174688057 | 3 | 1683 | 115341871-115341873 |
| 151 | EMX2 | 10 | 0.56916996047431 | 327 | 759 | 119302779-119303050, 119303078, 119303090-119303099, 119303113-119303150, 119303175-119303180 |
| 152 | BAG3 | 10 | 0.89409722222222 | 183 | 1728 | 121411188-121411367, 121436741-121436743 |
| 153 | FGFR2 | 10 | 0.9886317498985 | 28 | 2463 | 123274648-123274649, 123274671-123274681, 123274689, 123310883-123310884, 123310914-123310924, 123324981 |
| 154 | ARMS2 | 10 | 0.97530864197531 | 8 | 324 | 124214493-124214499, 124214507 |
| 155 | HTRA1 | 10 | 0.6971586971587 | 437 | 1443 | 124221169-124221592, 124221623-124221635 |
| 156 | ACADSB | 10 | 0.99076212471132 | 12 | 1299 | 124797270, 124800838-124800840, 124800856, 124810661-124810667 |
| 157 | OAT | 10 | 0.98863636363636 | 15 | 1320 | 126100640-126100654 |
| 158 | TALDO1 | 11 | 0.90236686390533 | 99 | 1014 | 747482-747578, 763344-763345 |
| 159 | SLC25A22 | 11 | 0.83230452674897 | 163 | 972 | 791932-791939, 791943, 791949-791953, 792208, 792323-792358, 792562-792568, 792598-792605, 792608-792613, 792616, 792624-792633, 792644-792649, 792652-792655, 792659-792670, 792672-792676, 792684-792726, 792870, 792885, 792902, 792952, 794792, 794809, 794813-794816 |
| 160 | PNPLA2 | 11 | 0.64026402640264 | 545 | 1515 | 819719-819905, 823998-824020, 824095-824096, 824314-824340, 824357-824377, 824395-824436, 824524, 824537-824740, 824754-824755, 824760-824763, 824773-824780, 824788-824793, 824803-824809, 824814-824823, 824857 |
| 161 | CTSD | 11 | 0.88539144471348 | 142 | 1239 | 1774746-1774747, 1774758, 1774820-1774822, 1775033, 1775036-1775041, 1775051-1775056, 1775226-1775270, 1775333, 1775338, 1775349-1775356, 1785022-1785089 |
| 162 | TNNI2 | 11 | 0.95628415300546 | 24 | 549 | 1862065, 1862291, 1862298, 1862308-1862312, 1862318-1862322, 1862324-1862325, 1862332-1862340 |
| 163 | TNNT3 | 11 | 0.98970398970399 | 8 | 777 | 1950368, 1959675-1959681 |
| 164 | H19 | 11 | 0.94677871148459 | 57 | 1071 | 2017412-2017413, 2017415, 2017525, 2017752-2017757, 2017781-2017791, 2017796-2017801, 2017810, 2017825-2017826, 2017836-2017837, 2017847-2017850, 2017967-2017987 |
| 165 | IGF2 | 11 | 0.73417721518987 | 189 | 711 | 2154251-2154254, 2154337, 2154356-2154377, 2161365-2161526 |
| 166 | TH | 11 | 0.84507936507937 | 244 | 1575 | 2186915, 2187710-2187779, 2187863-2187998, 2188709-2188715, 2191038, 2191101, 2191960-2191981, 2191984-2191989 |
| 167 | KCNQ1 | 11 | 0.85622845888725 | 292 | 2031 | 2466329-2466581, 2466600-2466605, 2466615-2466623, 2466637-2466638, 2466648, 2466659-2466663, 2608800-2608803, 2610040-2610043, 2869107-2869110, 2869130-2869133 |
| 168 | CDKN1C | 11 | 0.3322818086225 | 635 | 951 | 2905258, 2905276-2905277, 2905290, 2905344-2905345, 2905348, 2905900-2906429, 2906440, 2906455, 2906468-2906472, 2906475, 2906486-2906532, 2906574-2906576, 2906589, 2906592, 2906623-2906644, 2906696-2906705, 2906709-2906713, 2906715 |
| 169 | SMPD1 | 11 | 0.99103375527426 | 17 | 1896 | 6411928-6411930, 6411935, 6411946-6411948, 6411954-6411960, 6412979-6412981 |
| 170 | TPP1 | 11 | 0.98758865248227 | 21 | 1692 | 6637964-6637984 |
| 171 | SBF2 | 11 | 0.98432432432432 | 87 | 5550 | 9838456-9838460, 9838473-9838474, 9838478-9838479, 9838485-9838490, 9838497, 9871633, 9983631-9983634, 9989888-9989889, 10013986-10013988, 10014085-10014090, 10315562-10315616 |
| 172 | KCNJ11 | 11 | 0.99658994032396 | 4 | 1173 | 17409325-17409328 |
| 173 | ABCC8 | 11 | 0.98061525495154 | 92 | 4746 | 17419273-17419274, 17452427-17452430, 17452434-17452438, 17482138, 17485061-17485064, 17498176-17498182, 17498194, 17498197, 17498234-17498259, 17498269-17498295, 17498298-17498303, 17498306-17498311, 17498314, 17498323 |
| 174 | USH1C | 11 | 0.91481481481481 | 230 | 2700 | 17531122-17531351 |
| 175 | HPS5 | 11 | 0.99439528023599 | 19 | 3390 | 18327022-18327040 |
| 176 | LDHA | 11 | 0.97197197197197 | 28 | 999 | 18422423, 18422426-18422429, 18422433-18422439, 18422487-18422491, 18422506, 18422509, 18424439, 18427010-18427017 |
| 177 | SLC6A5 | 11 | 0.95906432748538 | 98 | 2394 | 20622721-20622724, 20622730-20622745, 20622756, 20622759, 20622779-20622782, 20622795, 20622859-20622878, 20622887, 20622918-20622919, 20622930-20622938, 20622946, 20622954, 20622972-20622985, 20622998-20622999, 20623004-20623007, 20623011, 20623020-20623021, 20623025-20623030, 20623041-20623042, 20623058, 20623149, 20623154-20623156, 20623161 |
| 178 | ANO5 | 11 | 0.99197665937272 | 22 | 2742 | 22242729, 22249049-22249058, 22277003-22277010, 22277013, 22277035, 22277067 |
| 179 | FANCF | 11 | 0.99022222222222 | 11 | 1125 | 22646809, 22646842-22646846, 22646851-22646853, 22647076-22647077 |
| 180 | PAX6 | 11 | 0.99369582348306 | 8 | 1269 | 31811483, 31824271, 31824303-31824308 |
| 181 | WT1 | 11 | 0.71621621621622 | 441 | 1554 | 32449512-32449565, 32456336-32456348, 32456363-32456364, 32456367, 32456372, 32456381-32456382, 32456436-32456437, 32456441-32456443, 32456452-32456454, 32456473, 32456479-32456485, 32456504-32456508, 32456511, 32456515, 32456518-32456525, 32456545-32456606, 32456617-32456891 |
| 182 | PDHX | 11 | 0.96812749003984 | 48 | 1506 | 34938203-34938212, 34938215, 34938219-34938220, 34982035-34982048, 34991742-34991745, 34991756-34991757, 34991773-34991775, 34991778, 34991781, 35016532-35016541 |
| 183 | RAG1 | 11 | 0.99968071519796 | 1 | 3132 | 36595056 |
| 184 | EXT2 | 11 | 0.99814557255447 | 4 | 2157 | 44228379-44228382 |
| 185 | ALX4 | 11 | 0.90695792880259 | 115 | 1236 | 44331147-44331180, 44331228, 44331253, 44331269, 44331274-44331279, 44331295-44331297, 44331300-44331315, 44331357, 44331378-44331412, 44331460, 44331509, 44331512, 44331573-44331581, 44331587-44331588, 44331606-44331608 |
| 186 | SLC35C1 | 11 | 0.94602272727273 | 57 | 1056 | 45827624-45827641, 45827664-45827700, 45827800, 45832694 |
| 187 | PEX16 | 11 | 0.95965417867435 | 42 | 1041 | 45935944, 45935955-45935960, 45935963-45935971, 45937364-45937376, 45937382, 45939272, 45939275-45939282, 45939288-45939290 |
| 188 | F2 | 11 | 0.99571963616907 | 8 | 1869 | 46747514-46747519, 46747548, 46747552 |
| 189 | DDB2 | 11 | 0.99688473520249 | 4 | 1284 | 47237981-47237984 |
| 190 | MADD | 11 | 0.99635922330097 | 18 | 4944 | 47296657, 47311448-47311454, 47311459-47311465, 47311476-47311478 |
| 191 | MYBPC3 | 11 | 0.99895424836601 | 4 | 3825 | 47365052-47365053, 47372096-47372097 |
| 192 | SLC39A13 | 11 | 0.98118279569892 | 21 | 1116 | 47431679, 47431746, 47431749, 47431765, 47433918, 47434962, 47434965, 47434968-47434971, 47434986, 47435028-47435034, 47436851-47436852 |
| 193 | RAPSN | 11 | 0.94511702986279 | 68 | 1239 | 47460339-47460340, 47460392, 47460400, 47460403-47460409, 47463208-47463210, 47463223-47463224, 47463428-47463467, 47464251, 47464260, 47469533-47469535, 47470345, 47470363-47470368 |
| 194 | SERPING1 | 11 | 0.97405189620758 | 39 | 1503 | 57365744-57365771, 57365779-57365784, 57365787-57365790, 57381929 |
| 195 | GIF | 11 | 0.99760765550239 | 3 | 1254 | 59599162, 59599205, 59612880 |
| 196 | TMEM216 | 11 | 0.98863636363636 | 3 | 264 | 61165296-61165297, 61165302 |
| 197 | BEST1 | 11 | 0.97667804323094 | 41 | 1758 | 61719340-61719344, 61719352, 61719357, 61723190-61723193, 61723308, 61723375-61723398, 61724466-61724470 |
| 198 | ROM1 | 11 | 0.99715909090909 | 3 | 1056 | 62380826, 62380829, 62380959 |
| 199 | BSCL2 | 11 | 0.99136069114471 | 12 | 1389 | 62457911-62457922 |
| 200 | SLC22A12 | 11 | 0.98916967509025 | 18 | 1662 | 64367258, 64367261, 64367264-64367269, 64367276-64367284, 64367301 |
| 201 | PYGM | 11 | 0.98971925662317 | 26 | 2529 | 64521054-64521058, 64521076-64521078, 64521086, 64521090, 64521107, 64521111, 64521139-64521148, 64527160-64527163 |
| 202 | MEN1 | 11 | 0.99404761904762 | 11 | 1848 | 64571993, 64571996, 64573141-64573144, 64573163, 64577239, 64577520, 64577523, 64577544 |
| 203 | RNASEH2C | 11 | 0.90707070707071 | 46 | 495 | 65487534, 65487851, 65488164, 65488168-65488195, 65488206-65488220 |
| 204 | EFEMP2 | 11 | 0.99924924924925 | 1 | 1332 | 65637593 |
| 205 | CST6 | 11 | 0.74222222222222 | 116 | 450 | 65779528-65779540, 65779569-65779610, 65779620-65779655, 65779675-65779679, 65779741-65779755, 65780376, 65780411-65780414 |
| 206 | BBS1 | 11 | 0.98989898989899 | 18 | 1782 | 66281906-66281909, 66281913, 66281976-66281978, 66281982, 66298375-66298381, 66299432, 66299505 |
| 207 | SPTBN2 | 11 | 0.9866164784609 | 96 | 7173 | 66453470, 66453476-66453478, 66454989, 66455339-66455345, 66455368-66455371, 66455387, 66457615-66457618, 66457629-66457631, 66457635, 66457639-66457641, 66457708-66457710, 66457721-66457725, 66460736-66460746, 66460836, 66460839, 66461272, 66461275-66461276, 66463756, 66468135, 66468309, 66468320, 66472502-66472533, 66472726-66472729, 66472924, 66473255, 66473294, 66475246 |
| 208 | PC | 11 | 0.99491094147583 | 18 | 3537 | 66618666-66618667, 66620049, 66633658-66633661, 66633678, 66633687, 66633690, 66633693-66633699, 66633818 |
| 209 | CABP4 | 11 | 0.98671497584541 | 11 | 828 | 67225898-67225906, 67225912-67225913 |
| 210 | AIP | 11 | 0.99496475327291 | 5 | 993 | 67257814, 67257823, 67257832-67257834 |
| 211 | NDUFV1 | 11 | 0.99928315412186 | 1 | 1395 | 67379893 |
| 212 | NDUFS8 | 11 | 0.99842022116904 | 1 | 633 | 67803787 |
| 213 | TCIRG1 | 11 | 0.94304051343763 | 142 | 2493 | 67810133-67810139, 67810159-67810204, 67810276-67810277, 67810296-67810298, 67810942-67810945, 67811038, 67811042-67811043, 67811317-67811354, 67811366-67811367, 67811651-67811660, 67815021-67815028, 67816578, 67816582, 67817217-67817223, 67817227-67817231, 67817240-67817244 |
| 214 | LRP5 | 11 | 0.95936468646865 | 197 | 4848 | 68080183-68080273, 68131215-68131246, 68131400-68131408, 68133156, 68133160, 68153789-68153795, 68153805, 68201254-68201258, 68201264-68201279, 68201283, 68201289-68201290, 68207313-68207319, 68207334, 68207341, 68207349, 68207352-68207358, 68207375-68207376, 68207381-68207384, 68216348, 68216449-68216455 |
| 215 | CPT1A | 11 | 0.97717484926787 | 53 | 2322 | 68527712, 68560783-68560824, 68562367-68562376 |
| 216 | IGHMBP2 | 11 | 0.99564050972502 | 13 | 2982 | 68671477, 68682410-68682418, 68701948, 68704340, 68704343 |
| 217 | DHCR7 | 11 | 0.93697478991597 | 90 | 1428 | 71146455-71146456, 71146459, 71146504-71146544, 71146565-71146599, 71146691, 71146822, 71146825-71146831, 71146840-71146841 |
| 218 | MYO7A | 11 | 0.99172683513839 | 55 | 6648 | 76858907-76858908, 76883840, 76883843-76883849, 76885936-76885937, 76890843-76890848, 76890875-76890878, 76890881, 76922287-76922318 |
| 219 | ALG8 | 11 | 0.99873497786211 | 2 | 1581 | 77812169, 77812172 |
| 220 | FZD4 | 11 | 0.97893432465923 | 34 | 1614 | 86665845, 86665851-86665852, 86665857, 86665898-86665900, 86665903, 86665916, 86665926, 86665929, 86666037, 86666048-86666053, 86666079-86666080, 86666099-86666106, 86666114-86666117, 86666126-86666127 |
| 221 | TYR | 11 | 0.99937106918239 | 1 | 1590 | 88911134 |
| 222 | MTMR2 | 11 | 0.97826086956522 | 42 | 1932 | 95582985-95582992, 95657067-95657068, 95657073, 95657076-95657103, 95657109-95657111 |
| 223 | TRPC6 | 11 | 0.97854077253219 | 60 | 2796 | 101362393, 101454154-101454212 |
| 224 | DYNC2H1 | 11 | 0.96848203939745 | 408 | 12945 | 102988390-102988400, 102988504, 102988565-102988587, 102991495-102991512, 102991518-102991526, 102991654-102991655, 102991665-102991668, 102991671, 102991674, 102991741, 103005072-103005074, 103006626-103006627, 103006633, 103006636-103006643, 103006670, 103018505-103018510, 103018537, 103022916, 103024097-103024103, 103024222-103024237, 103025261, 103029516, 103029523-103029533, 103043811-103043861, 103043864, 103043867-103043869, 103043898-103043945, 103043982, 103043990, 103044020-103044030, 103049820-103049825, 103049832-103049840, 103052497-103052503, 103057009-103057012, 103057086-103057099, 103057193-103057201, 103062265-103062268, 103062282, 103062299-103062345, 103070069-103070105, 103074434-103074437, 103093726, 103114520, 103130684, 103157016-103157022, 103157102-103157111 |
| 225 | ACAT1 | 11 | 0.97274143302181 | 35 | 1284 | 107992343-107992352, 107992371-107992383, 107992386-107992389, 108014715-108014718, 108018090-108018093 |
| 226 | ATM | 11 | 0.98102715080144 | 174 | 9171 | 108098363-108098377, 108098384-108098390, 108098560-108098578, 108121730-108121747, 108124761, 108124764-108124765, 108126997, 108127014-108127022, 108127025, 108153441-108153479, 108170605, 108181021-108181024, 108188142, 108188197, 108188200-108188212, 108196070-108196073, 108196078, 108196083, 108199906-108199917, 108202174-108202182, 108202185, 108202191-108202195, 108202201, 108202247, 108202262-108202264, 108202651-108202653, 108235878 |
| 227 | RDX | 11 | 0.99771689497717 | 4 | 1752 | 110108284-110108286, 110126068 |
| 228 | ALG9 | 11 | 0.95424836601307 | 84 | 1836 | 111742086-111742118, 111742129, 111742136-111742145, 111742147-111742179, 111742196-111742202 |
| 229 | DLAT | 11 | 0.99331275720165 | 13 | 1944 | 111896216, 111899587-111899590, 111899600, 111899603, 111899606, 111899616, 111910008-111910011 |
| 230 | PTS | 11 | 0.96803652968037 | 14 | 438 | 112097201-112097207, 112097210, 112097217-112097221, 112097229 |
| 231 | APOA1 | 11 | 0.95273631840796 | 38 | 804 | 116706625, 116706723-116706725, 116706730-116706731, 116706737, 116706749, 116706752, 116706774-116706775, 116706780-116706782, 116706788-116706791, 116706796-116706807, 116706886-116706893 |
| 232 | FXYD2 | 11 | 0.97716894977169 | 10 | 438 | 117693269-117693273, 117693354-117693358 |
| 233 | SLC37A4 | 11 | 0.99531835205993 | 5 | 1068 | 118898414-118898416, 118898423-118898424 |
| 234 | DPAGT1 | 11 | 0.99918500407498 | 1 | 1227 | 118967861 |
| 235 | TECTA | 11 | 0.99056457849961 | 61 | 6465 | 120996292, 121016744-121016754, 121028657-121028698, 121028710-121028716 |
| 236 | SC5DL | 11 | 0.99555555555556 | 4 | 900 | 121174115-121174117, 121174126 |
| 237 | ROBO3 | 11 | 0.97068012496996 | 122 | 4161 | 124738871-124738873, 124739399, 124739410-124739437, 124739440, 124742411, 124745904, 124745910-124745921, 124745965-124745968, 124745990, 124745994-124745997, 124746009, 124746183, 124746186-124746187, 124746249-124746259, 124746263, 124746269-124746273, 124746279, 124746281, 124746286, 124746291, 124746294, 124746297-124746302, 124746308, 124746312-124746328, 124746335-124746344, 124750436-124750440, 124750444 |
| 238 | ACAD8 | 11 | 0.99839743589744 | 2 | 1248 | 134131704-134131705 |
| 239 | WNK1 | 12 | 0.96335151769478 | 262 | 7149 | 862732-862743, 862749, 862782-862821, 862835-862855, 862860-862861, 862893-862939, 862963-862972, 862989-862994, 863146-863155, 863216-863222, 863230-863276, 863293, 968529, 970380, 989120-989121, 989131-989145, 994388, 994400, 994405-994410, 994777-994793, 994800-994808, 994818, 1017851, 1017855-1017856, 1017880 |
| 240 | CACNA2D4 | 12 | 0.99326303456356 | 23 | 3414 | 1902903, 1902906-1902912, 2017077, 2027477-2027480, 2027521-2027522, 2027524-2027527, 2027540-2027543 |
| 241 | CACNA1C | 12 | 0.98841639993903 | 76 | 6561 | 2224444-2224450, 2224493, 2224513-2224516, 2705094-2705107, 2760875-2760894, 2791761-2791767, 2794934-2794940, 2797892, 2797895, 2800298-2800304, 2800306-2800308, 2800336-2800339 |
| 242 | KCNA1 | 12 | 0.99059139784946 | 14 | 1488 | 5020623, 5020656, 5020683-5020685, 5020693, 5020703-5020707, 5020844-5020846 |
| 243 | VWF | 12 | 0.97986259180289 | 170 | 8442 | 6125394-6125398, 6125759, 6128843, 6131926-6131932, 6131955-6131982, 6132003-6132033, 6166047-6166051, 6166063-6166066, 6166069, 6166087, 6166091-6166093, 6166103-6166105, 6166108-6166109, 6166137-6166172, 6166198-6166238, 6184514 |
| 244 | TNFRSF1A | 12 | 0.8172514619883 | 250 | 1368 | 6438478-6438483, 6438493-6438502, 6438508, 6438514-6438518, 6438520, 6438523-6438524, 6438535-6438738, 6438754-6438756, 6438761, 6438770-6438775, 6438785, 6438975-6438977, 6439064-6439067, 6439073, 6450945, 6450949 |
| 245 | SCNN1A | 12 | 0.96799268404207 | 70 | 2187 | 6472671-6472676, 6472683-6472715, 6472745-6472775 |
| 246 | TPI1 | 12 | 0.84666666666667 | 115 | 750 | 6976731-6976845 |
| 247 | ATN1 | 12 | 0.96865379233137 | 112 | 3573 | 7045394, 7045892-7045932, 7045937, 7045989-7045994, 7046368, 7046373, 7046516-7046519, 7046526-7046533, 7046687-7046689, 7046711-7046716, 7046720, 7047047-7047054, 7047067-7047072, 7047139-7047148, 7050609, 7050633-7050635, 7050639-7050649 |
| 248 | PEX5 | 12 | 0.99789029535865 | 4 | 1896 | 7362361-7362364 |
| 249 | AICDA | 12 | 0.99162479061977 | 5 | 597 | 8757460-8757462, 8758028-8758029 |
| 250 | CDKN1B | 12 | 0.99497487437186 | 3 | 597 | 12871108-12871110 |
| 251 | GYS2 | 12 | 0.98532196969697 | 31 | 2112 | 21712028-21712054, 21712084-21712086, 21733406 |
| 252 | ABCC9 | 12 | 0.9952688172043 | 22 | 4650 | 21971151-21971153, 21998562, 21998587, 21998694, 22063769-22063772, 22063864, 22068661-22068668, 22068671-22068673 |
| 253 | KRAS | 12 | 0.99649122807018 | 2 | 570 | 25380232, 25380284 |
| 254 | FGD4 | 12 | 0.99608865710561 | 9 | 2301 | 32793446-32793454 |
| 255 | DNM1L | 12 | 0.97919493441881 | 46 | 2211 | 32832368-32832374, 32832380-32832399, 32890822, 32890825, 32891212, 32895541-32895544, 32895563-32895574 |
| 256 | PKP2 | 12 | 0.97971360381862 | 51 | 2514 | 33049443-33049466, 33049473-33049474, 33049477, 33049526, 33049530-33049536, 33049545-33049551, 33049600-33049602, 33049612, 33049645, 33049652-33049654, 33049657 |
| 257 | KIF21A | 12 | 0.98816686722824 | 59 | 4986 | 39696888, 39709038-39709040, 39725542, 39726466, 39726806, 39756951-39756952, 39760209-39760211, 39760217-39760219, 39836729-39836772 |
| 258 | LRRK2 | 12 | 0.9898470464135 | 77 | 7584 | 40619059, 40619065-40619075, 40643682, 40643723-40643730, 40645053, 40645164, 40646739-40646773, 40687389-40687393, 40692247, 40693005-40693015, 40761493, 40761497 |
| 259 | IRAK4 | 12 | 0.99927693420101 | 1 | 1383 | 44180337 |
| 260 | VDR | 12 | 0.99688473520249 | 4 | 1284 | 48238709, 48238755-48238757 |
| 261 | COL2A1 | 12 | 0.978270609319 | 97 | 4464 | 48369387-48369388, 48373310-48373337, 48377870-48377874, 48377877, 48377889, 48380222, 48380225-48380226, 48389692, 48393809-48393819, 48398060-48398104 |
| 262 | PFKM | 12 | 0.99743918053777 | 6 | 2343 | 48535809, 48535813-48535817 |
| 263 | MLL2 | 12 | 0.96858071505959 | 522 | 16614 | 49420597-49420598, 49420601-49420603, 49420776, 49420781-49420783, 49420940-49420941, 49423255-49423259, 49424130-49424133, 49424155-49424180, 49425176, 49425790, 49425802-49425803, 49425809-49425812, 49426172-49426173, 49426214-49426218, 49426493, 49426500-49426505, 49426554, 49426564, 49426583-49426584, 49426608, 49426626, 49426634-49426639, 49426644-49426645, 49426726-49426801, 49426820-49426845, 49426898-49426902, 49426906-49426908, 49426916, 49426955-49426961, 49427006-49427031, 49427038-49427138, 49427204-49427229, 49427251-49427261, 49427270-49427276, 49427297-49427302, 49427322, 49427326-49427328, 49427420-49427422, 49427543, 49427605, 49427646-49427673, 49431296-49431304, 49431314-49431319, 49431594, 49431597, 49431693-49431695, 49433104-49433105, 49433268, 49433273-49433274, 49433279-49433286, 49433296-49433299, 49433315, 49433323, 49433377, 49433381-49433385, 49433388, 49433762, 49434081-49434082, 49434916-49434948, 49435108-49435109, 49435114, 49435121, 49435132-49435139, 49435141, 49435193-49435199, 49435203-49435205, 49436398-49436400 |
| 264 | DHH | 12 | 0.80688497061293 | 230 | 1191 | 49483646, 49483657, 49483660-49483661, 49483712, 49483715-49483719, 49483734-49483736, 49483740-49483754, 49483757-49483761, 49483784-49483805, 49483840-49483860, 49483862-49483863, 49483868-49483873, 49483883-49483907, 49483913-49483915, 49483922, 49483927, 49483931-49483934, 49483946-49483959, 49483981-49484000, 49484196-49484221, 49484251-49484252, 49488183-49488221, 49488240-49488250 |
| 265 | TUBA1A | 12 | 0.99780701754386 | 1 | 456 | 49522238 |
| 266 | AQP2 | 12 | 0.9656862745098 | 28 | 816 | 50344868-50344869, 50344872-50344897 |
| 267 | ACVRL1 | 12 | 0.98280423280423 | 26 | 1512 | 52306935, 52306938, 52306941, 52307028-52307031, 52307367-52307375, 52307394, 52307459-52307461, 52308255-52308260 |
| 268 | KRT81 | 12 | 0.96640316205534 | 51 | 1518 | 52680272, 52681063, 52682999-52683005, 52683918, 52684021-52684027, 52685067-52685068, 52685073, 52685174-52685204 |
| 269 | KRT86 | 12 | 0.94182067077344 | 85 | 1461 | 52695754-52695779, 52695860-52695867, 52696884-52696917, 52696927-52696933, 52697949-52697955, 52699888, 52699893, 52702196 |
| 270 | KRT83 | 12 | 0.97638326585695 | 35 | 1482 | 52708591-52708602, 52709848, 52709877, 52709880, 52713084-52713092, 52713117-52713126, 52714741 |
| 271 | KRT6B | 12 | 0.95811209439528 | 71 | 1695 | 52842658, 52843578-52843584, 52843632-52843637, 52844255-52844261, 52844375, 52844388, 52845365-52845371, 52845432-52845438, 52845798-52845831 |
| 272 | KRT6C | 12 | 0.92625368731563 | 125 | 1695 | 52862850, 52865295-52865300, 52866019-52866021, 52866028, 52867024-52867069, 52867091-52867109, 52867144-52867150, 52867230-52867236, 52867419, 52867457-52867490 |
| 273 | KRT6A | 12 | 0.91799410029499 | 139 | 1695 | 52882204-52882225, 52885471, 52885474, 52885480-52885481, 52885490-52885492, 52885495-52885499, 52885503, 52886490, 52886542-52886559, 52886598, 52886681-52886728, 52886907-52886942 |
| 274 | KRT5 | 12 | 0.94190637337845 | 103 | 1773 | 52908849, 52908885-52908904, 52908910-52908917, 52911919-52911928, 52911938-52911939, 52911943-52911947, 52912870, 52912880-52912935 |
| 275 | KRT2 | 12 | 0.9984375 | 3 | 1920 | 53040615-53040617 |
| 276 | KRT1 | 12 | 0.95400516795866 | 89 | 1935 | 53069127, 53069130-53069134, 53069223-53069256, 53069260-53069266, 53070121, 53070139-53070140, 53070145-53070156, 53070174, 53070178, 53072490, 53072495-53072512, 53072515-53072519, 53073997 |
| 277 | ITGA7 | 12 | 0.99007589025102 | 34 | 3426 | 56088567-56088569, 56088586-56088592, 56089341-56089342, 56089350-56089354, 56089357, 56090796, 56096943-56096952, 56101459-56101463 |
| 278 | RDH5 | 12 | 0.98223615464995 | 17 | 957 | 56114972, 56114978, 56114983, 56114987-56114988, 56114991, 56115585, 56115603-56115604, 56115613, 56117768, 56117777-56117782 |
| 279 | SUOX | 12 | 0.9981684981685 | 3 | 1638 | 56397740-56397742 |
| 280 | MYO1A | 12 | 0.99872286079183 | 4 | 3132 | 57430794-57430796, 57432274 |
| 281 | KIF5A | 12 | 0.98354307841239 | 51 | 3099 | 57944055-57944068, 57944091-57944119, 57974881-57974886, 57974891-57974892 |
| 282 | CYP27B1 | 12 | 0.99148657498363 | 13 | 1527 | 58158228, 58158231-58158233, 58159792-58159799, 58160779 |
| 283 | GNS | 12 | 0.99276672694394 | 12 | 1659 | 65141663-65141670, 65153018-65153021 |
| 284 | LEMD3 | 12 | 0.90716374269006 | 254 | 2736 | 65563393-65563438, 65563456, 65563461, 65563466-65563468, 65563473, 65563477, 65563497, 65563550-65563571, 65563590-65563637, 65563650-65563672, 65563711-65563712, 65563727-65563737, 65563740-65563774, 65563784-65563787, 65563832-65563833, 65563842, 65563871, 65563875-65563876, 65563887-65563925, 65563977-65563979, 65563982, 65564391, 65564395, 65612390, 65639692-65639694 |
| 285 | TPH2 | 12 | 0.99932111337407 | 1 | 1473 | 72332840 |
| 286 | CEP290 | 12 | 0.97862903225806 | 159 | 7440 | 88448162-88448163, 88471555-88471558, 88471679, 88472919-88472931, 88472947-88472986, 88478401, 88479883, 88481601, 88481606, 88481691-88481697, 88490721, 88504979-88505001, 88505474-88505503, 88513980-88513992, 88513999, 88519054, 88522733-88522741, 88522779, 88522793-88522799, 88530509, 88533294 |
| 287 | HAL | 12 | 0.98277608915907 | 34 | 1974 | 96370225, 96380859-96380881, 96389532-96389533, 96389546-96389553 |
| 288 | TMPO | 12 | 0.94484412470024 | 115 | 2085 | 98909724-98909740, 98909746, 98909753, 98909757, 98909786, 98909794-98909795, 98909798, 98909801-98909825, 98909834-98909837, 98909850-98909876, 98909882-98909916 |
| 289 | SLC25A3 | 12 | 0.99724517906336 | 3 | 1089 | 98987836, 98987865, 98987876 |
| 290 | SLC17A8 | 12 | 0.98474576271186 | 27 | 1770 | 100774559-100774567, 100774575-100774590, 100797882-100797883 |
| 291 | GNPTAB | 12 | 0.99761336515513 | 9 | 3771 | 102224337-102224338, 102224346-102224352 |
| 292 | PAH | 12 | 0.99779249448124 | 3 | 1359 | 103288635-103288637 |
| 293 | UNG | 12 | 0.93418259023355 | 62 | 942 | 109535485-109535520, 109535553, 109535556-109535572, 109535576-109535578, 109536344-109536348 |
| 294 | MVK | 12 | 0.9983207388749 | 2 | 1191 | 110034261, 110034267 |
| 295 | TRPV4 | 12 | 0.99923547400612 | 2 | 2616 | 110232265, 110246170 |
| 296 | ATP2A2 | 12 | 0.9622882710131 | 118 | 3129 | 110719595-110719712 |
| 297 | ATXN2 | 12 | 0.81988838153222 | 710 | 3942 | 111894015-111894016, 111908478, 111908481-111908486, 111924610, 111954039, 112036588-112037256, 112037270-112037286, 112037306-112037318 |
| 298 | PTPN11 | 12 | 0.98540965207632 | 26 | 1782 | 112856916-112856929, 112891138, 112891147-112891151, 112891158, 112891162-112891166 |
| 299 | SDS | 12 | 0.99594731509625 | 4 | 987 | 113830794, 113836579, 113836585-113836586 |
| 300 | TBX5 | 12 | 0.99550417469493 | 7 | 1557 | 114793679, 114804115, 114804118-114804122 |
| 301 | TBX3 | 12 | 0.90188172043011 | 219 | 2232 | 115109684-115109690, 115109844, 115109875-115109882, 115109893, 115109904-115109926, 115109929-115109930, 115110046-115110047, 115111970-115111998, 115112008-115112054, 115112095-115112096, 115112142, 115112226-115112253, 115112267-115112274, 115112278, 115112282, 115112286, 115112296-115112310, 115112322-115112329, 115112386, 115112434-115112439, 115112446-115112464, 115112541, 115112561-115112563, 115112573, 115120871, 115120874, 115120906 |
| 302 | ACADS | 12 | 0.98466505246166 | 19 | 1239 | 121163693-121163701, 121163704, 121163713-121163714, 121163721, 121163730-121163734, 121175211 |
| 303 | HNF1A | 12 | 0.96993670886076 | 57 | 1896 | 121416677, 121434154-121434161, 121434344-121434364, 121435333-121435345, 121437286-121437287, 121437301, 121437308-121437312, 121437382, 121437389-121437390, 121438877-121438879 |
| 304 | EIF2B1 | 12 | 0.99891067538126 | 1 | 918 | 124116920 |
| 305 | ATP6V0A2 | 12 | 0.9949436017114 | 13 | 2571 | 124197113, 124197227-124197229, 124241395-124241401, 124241408-124241409 |
| 306 | PUS1 | 12 | 0.88239875389408 | 151 | 1284 | 132414269-132414301, 132414304-132414308, 132414313-132414315, 132414327-132414341, 132414452-132414530, 132414618-132414624, 132414679, 132425974, 132426240-132426246 |
| 307 | GJB6 | 13 | 0.99363867684478 | 5 | 786 | 20797391-20797395 |
| 308 | SGCG | 13 | 0.99543378995434 | 4 | 876 | 23808790-23808793 |
| 309 | SACS | 13 | 0.98828238719068 | 161 | 13740 | 23915133-23915137, 23915140, 23928848-23928851, 23949258-23949408 |
| 310 | CENPJ | 13 | 0.99875529001743 | 5 | 4017 | 25458600-25458601, 25480457-25480458, 25480575 |
| 311 | PDX1 | 13 | 0.5962441314554 | 344 | 852 | 28494276, 28494329, 28494343-28494376, 28494398-28494477, 28494486-28494495, 28494505-28494507, 28494519, 28494522-28494523, 28494560, 28494573-28494596, 28494599-28494600, 28494629-28494633, 28494639, 28494678-28494681, 28498395, 28498411-28498417, 28498424, 28498427-28498429, 28498435-28498441, 28498461-28498469, 28498473-28498474, 28498482-28498485, 28498510-28498516, 28498577, 28498584, 28498595-28498605, 28498621-28498658, 28498668-28498675, 28498681-28498752, 28498769-28498770, 28498795 |
| 312 | B3GALTL | 13 | 0.9498997995992 | 75 | 1497 | 31774222-31774291, 31822030-31822034 |
| 313 | BRCA2 | 13 | 0.99834259530077 | 17 | 10257 | 32903621, 32905141-32905145, 32906573-32906576, 32906590, 32906601-32906602, 32906610-32906613 |
| 314 | SPG20 | 13 | 0.99100449775112 | 18 | 2001 | 36905638, 36905641, 36909191, 36909448-36909461, 36909465 |
| 315 | FREM2 | 13 | 0.98611987381703 | 132 | 9510 | 39261564-39261595, 39261622, 39261637-39261643, 39261674, 39261678-39261679, 39261684-39261686, 39261791, 39261827-39261862, 39261908-39261910, 39261912, 39261915-39261917, 39261929-39261936, 39261956-39261958, 39262057, 39263225-39263232, 39448659-39448665, 39452271-39452284, 39454875 |
| 316 | SLC25A15 | 13 | 0.99558498896247 | 4 | 906 | 41373275, 41381476-41381478 |
| 317 | TNFSF11 | 13 | 0.93081761006289 | 66 | 954 | 43148440-43148476, 43148494-43148503, 43148506-43148507, 43148513, 43148531-43148545, 43148549 |
| 318 | SUCLA2 | 13 | 0.97341954022989 | 37 | 1392 | 48517539, 48528336-48528342, 48528356, 48528359, 48528366, 48528373, 48528379-48528381, 48542803, 48547472-48547477, 48571027, 48571064-48571070, 48575336, 48575339-48575343, 48575369 |
| 319 | RB1 | 13 | 0.94904915679943 | 142 | 2787 | 48878049-48878056, 48878086-48878185, 48937020-48937031, 48939043-48939045, 48939048-48939053, 48947580, 48947591-48947595, 48947610-48947615, 49051510 |
| 320 | RNASEH2B | 13 | 0.93184238551651 | 64 | 939 | 51484213-51484276 |
| 321 | ATP7B | 13 | 0.99658935879945 | 15 | 4398 | 52518279, 52518287-52518289, 52518357, 52523871-52523880 |
| 322 | CLN5 | 13 | 0.97385620915033 | 32 | 1224 | 77566113-77566119, 77566137-77566152, 77566283, 77566286-77566288, 77566290-77566294 |
| 323 | EDNRB | 13 | 0.92851768246802 | 95 | 1329 | 78474705-78474719, 78474734-78474782, 78475263-78475277, 78475313, 78477739, 78492251-78492257, 78492518-78492524 |
| 324 | SLITRK1 | 13 | 0.98326159732186 | 35 | 2091 | 84453772-84453784, 84453787, 84453790-84453798, 84453804-84453815 |
| 325 | ZIC2 | 13 | 0.49656035021889 | 805 | 1599 | 100634319-100634760, 100634792-100634805, 100634812-100634817, 100634820, 100634883-100634887, 100634936-100634937, 100634940, 100634998-100635001, 100635005-100635016, 100635024-100635025, 100635216, 100637242-100637264, 100637589-100637874, 100637902-100637906, 100637924 |
| 326 | PCCA | 13 | 0.97073616826703 | 64 | 2187 | 100741419-100741460, 100764106, 100764110, 100909889-100909891, 100909896-100909903, 100909913-100909915, 100915027-100915030, 100915048, 100915053 |
| 327 | FGF14 | 13 | 0.99736495388669 | 2 | 759 | 102378987, 102378990 |
| 328 | ERCC5 | 13 | 0.99669733427695 | 14 | 4239 | 103468854, 103504517, 103514605, 103515391-103515400, 103518699 |
| 329 | COL4A1 | 13 | 0.98043912175649 | 98 | 5010 | 110822901-110822904, 110822970, 110864261-110864269, 110959291-110959374 |
| 330 | F7 | 13 | 0.85468164794007 | 194 | 1335 | 113765004-113765164, 113772942-113772948, 113772958-113772960, 113772966-113772967, 113772970-113772973, 113773034-113773043, 113773199-113773205 |
| 331 | F10 | 13 | 0.98704839809134 | 19 | 1467 | 113798221-113798225, 113798233-113798244, 113803536, 113803539 |
| 332 | GRK1 | 13 | 0.95271867612293 | 80 | 1692 | 114322081-114322092, 114322141-114322152, 114325876-114325886, 114325890-114325902, 114325905, 114325923-114325939, 114325945-114325948, 114325952, 114426065-114426066, 114426083-114426085, 114426088, 114426092-114426093, 114435949 |
| 333 | TEP1 | 14 | 0.9978437341451 | 17 | 7884 | 20841536, 20844393-20844395, 20850470-20850473, 20851758-20851762, 20851768, 20851773-20851775 |
| 334 | PNP | 14 | 0.99885057471264 | 1 | 870 | 20942992 |
| 335 | RPGRIP1 | 14 | 0.999740999741 | 1 | 3861 | 21769136 |
| 336 | SLC7A7 | 14 | 0.98958333333333 | 16 | 1536 | 23282118-23282121, 23282125, 23282139-23282149 |
| 337 | PABPN1 | 14 | 0.60477741585233 | 364 | 921 | 23790679-23791029, 23792611, 23793406-23793409, 23793468-23793473, 23793478, 23793481 |
| 338 | MYH6 | 14 | 0.99553264604811 | 26 | 5820 | 23852474, 23852487, 23852515, 23858208-23858223, 23858229-23858230, 23858238, 23858251, 23866258, 23871911, 23871926 |
| 339 | MYH7 | 14 | 0.99259641873278 | 43 | 5808 | 23884848, 23885252-23885254, 23885356, 23885361-23885366, 23885374-23885379, 23886746-23886747, 23886769-23886772, 23888386-23888393, 23888400-23888405, 23894606-23894609, 23897824, 23900839 |
| 340 | NRL | 14 | 0.65126050420168 | 249 | 714 | 24550497, 24550503-24550510, 24550538-24550777 |
| 341 | PCK2 | 14 | 0.99375975039002 | 12 | 1923 | 24563639-24563643, 24566300, 24566306-24566307, 24566310-24566313 |
| 342 | TINF2 | 14 | 0.99778761061947 | 3 | 1356 | 24711536-24711538 |
| 343 | TGM1 | 14 | 0.99918500407498 | 2 | 2454 | 24725270, 24728946 |
| 344 | FOXG1 | 14 | 0.67210884353741 | 482 | 1470 | 29236486-29236960, 29236968-29236971, 29237347, 29237355, 29237797 |
| 345 | COCH | 14 | 0.98064125831821 | 32 | 1653 | 31344269-31344300 |
| 346 | CFL2 | 14 | 0.9940119760479 | 3 | 501 | 35183744-35183746 |
| 347 | NKX2-1 | 14 | 0.44112769485904 | 674 | 1206 | 36986528-36986534, 36986582-36986592, 36986599, 36986604, 36986607, 36986613, 36986662-36986952, 36986961-36986962, 36987030-36987039, 36987048, 36987052, 36987062-36987069, 36987072, 36987080-36987129, 36987153, 36987157, 36987164-36987165, 36987175-36987213, 36988190-36988381, 36988392-36988397, 36988422-36988426, 36988469, 36989261-36989263, 36989276-36989305, 36989323-36989329, 36989333 |
| 348 | PAX9 | 14 | 0.99805068226121 | 2 | 1026 | 37132251, 37132603 |
| 349 | FANCM | 14 | 0.98975109809663 | 63 | 6147 | 45605358-45605385, 45606378, 45623942, 45623954-45623957, 45623974-45623993, 45624583, 45624586, 45644352, 45644458-45644460, 45644518, 45644892, 45667900 |
| 350 | MGAT2 | 14 | 0.984375 | 21 | 1344 | 50088333-50088353 |
| 351 | C14orf104 | 14 | 0.74144789180589 | 650 | 2514 | 50100597-50100605, 50100666, 50100673-50100677, 50100683, 50100688, 50100709-50100739, 50100748-50100839, 50100858-50100910, 50100937-50101162, 50101189, 50101235-50101276, 50101309-50101325, 50101331-50101346, 50101350, 50101360-50101395, 50101402-50101409, 50101433-50101482, 50101496, 50101529-50101570, 50101682, 50101689, 50101693, 50101704-50101707, 50101713-50101722 |
| 352 | ATL1 | 14 | 0.99819494584838 | 3 | 1662 | 51089901-51089902, 51098996 |
| 353 | PYGL | 14 | 0.97759433962264 | 57 | 2544 | 51381464, 51410886-51410891, 51410920, 51410943-51410972, 51411027-51411042, 51411118-51411120 |
| 354 | GCH1 | 14 | 0.78220451527224 | 164 | 753 | 55312513-55312519, 55312523-55312525, 55312528-55312530, 55369039-55369040, 55369080, 55369104, 55369107, 55369110-55369112, 55369118-55369120, 55369214-55369217, 55369226-55369227, 55369232, 55369234-55369236, 55369252-55369381 |
| 355 | OTX2 | 14 | 0.99776286353468 | 2 | 894 | 57268867-57268868 |
| 356 | SIX6 | 14 | 0.96221322537112 | 28 | 741 | 60976201-60976204, 60976212-60976214, 60976222, 60976228-60976236, 60976244-60976249, 60976515-60976516, 60976519-60976521 |
| 357 | SIX1 | 14 | 0.87719298245614 | 105 | 855 | 61115348-61115371, 61115464-61115489, 61115532-61115541, 61115551-61115555, 61115611, 61115614-61115617, 61115788-61115804, 61115811, 61115891-61115907 |
| 358 | SYNE2 | 14 | 0.99396834587917 | 125 | 20724 | 64443281, 64447436-64447438, 64447807, 64457774-64457815, 64469662-64469668, 64488117-64488120, 64488123, 64493405-64493409, 64494407-64494421, 64516424, 64519141-64519155, 64522832, 64522843, 64556372-64556375, 64556382, 64580284-64580289, 64596818, 64634018, 64675589, 64676756, 64676808, 64676812, 64679703-64679711, 64685225, 64692120 |
| 359 | ZFYVE26 | 14 | 0.99619422572178 | 29 | 7620 | 68215260-68215261, 68229046-68229047, 68242683-68242692, 68244315-68244316, 68244319, 68257297-68257303, 68282643, 68282649-68282652 |
| 360 | PSEN1 | 14 | 0.99928774928775 | 1 | 1404 | 73659462 |
| 361 | VSX2 | 14 | 0.89779005524862 | 111 | 1086 | 74706312-74706323, 74706329, 74706332-74706338, 74706344, 74706390-74706391, 74706394, 74706418-74706430, 74706434-74706443, 74706450-74706459, 74706471, 74706474-74706484, 74706487-74706488, 74706504, 74706514-74706522, 74706527-74706531, 74706557-74706569, 74706572-74706573, 74706603-74706607, 74706630-74706634 |
| 362 | EIF2B2 | 14 | 0.93939393939394 | 64 | 1056 | 75470019-75470028, 75471474-75471481, 75471492-75471495, 75471503-75471507, 75471510, 75471519, 75471530-75471550, 75471579-75471580, 75471587-75471596, 75471602-75471603 |
| 363 | MLH3 | 14 | 0.99816597890876 | 8 | 4362 | 75483812, 75506686-75506689, 75506717-75506718, 75509119 |
| 364 | FLVCR2 | 14 | 0.99557242251739 | 7 | 1581 | 76045463-76045469 |
| 365 | TGFB3 | 14 | 0.99273607748184 | 9 | 1239 | 76437550-76437551, 76447001-76447003, 76447005-76447007, 76447009 |
| 366 | ESRRB | 14 | 0.9705304518664 | 45 | 1527 | 76964609, 76964647-76964669, 76964672, 76964675-76964685, 76964709-76964714, 76964782, 76964788, 76964795 |
| 367 | POMT2 | 14 | 0.95073235685752 | 111 | 2253 | 77745193-77745196, 77786782-77786832, 77786840-77786855, 77786871, 77786918-77786919, 77786922, 77786929-77786930, 77786939, 77786944, 77786963-77786987, 77787010-77787016 |
| 368 | TSHR | 14 | 0.99694989106754 | 7 | 2295 | 81422056-81422059, 81610006-81610008 |
| 369 | GALC | 14 | 0.93731778425656 | 129 | 2058 | 88459318-88459396, 88459402-88459448, 88459466, 88459469, 88459473 |
| 370 | SPATA7 | 14 | 0.99722222222222 | 5 | 1800 | 88859807-88859809, 88883122, 88883130 |
| 371 | TTC8 | 14 | 0.99095607235142 | 14 | 1548 | 89307478, 89337902-89337903, 89337906, 89337927, 89337933-89337934, 89343733-89343739 |
| 372 | FBLN5 | 14 | 0.99034892353378 | 13 | 1347 | 92403405-92403417 |
| 373 | ATXN3 | 14 | 0.98158379373849 | 20 | 1086 | 92537354-92537356, 92537360-92537361, 92537364-92537378 |
| 374 | VRK1 | 14 | 0.96053736356003 | 47 | 1191 | 97304118-97304119, 97304122-97304123, 97304128-97304133, 97304139-97304147, 97304151, 97322519-97322544, 97326974 |
| 375 | AMN | 14 | 0.6417033773862 | 488 | 1362 | 103390135-103390139, 103390144, 103390150-103390151, 103394821, 103394842, 103394848, 103395118-103395121, 103395163, 103395166, 103395172, 103395202, 103395248-103395276, 103395284-103395286, 103395299, 103395466, 103395504, 103395507, 103395510-103395539, 103395541-103395543, 103395550, 103395562-103395565, 103395575-103395595, 103395765-103395787, 103395797-103395828, 103395837, 103396013-103396021, 103396039-103396042, 103396045-103396049, 103396271-103396287, 103396364, 103396368, 103396378, 103396389-103396390, 103396406, 103396502-103396664, 103396743-103396830, 103396913-103396918, 103396925-103396928, 103396931-103396932, 103396987-103396989, 103396997, 103397000-103397004, 103397008, 103397013-103397016 |
| 376 | INF2 | 14 | 0.85893333333333 | 529 | 3750 | 105167911-105167913, 105167918, 105167928-105167949, 105167963-105167968, 105168085-105168093, 105169674-105169675, 105169763, 105169765, 105170259-105170261, 105173376-105173382, 105173596-105173599, 105173602, 105173643-105173676, 105173685-105173692, 105173718, 105173758-105173780, 105173783, 105173790-105173795, 105173801, 105173846-105174149, 105174156-105174195, 105174240-105174245, 105174324-105174339, 105177488, 105177491-105177498, 105179614-105179620, 105179633-105179641, 105180565, 105181132-105181134 |
| 377 | NIPA1 | 15 | 0.81919191919192 | 179 | 990 | 23052632, 23086234-23086411 |
| 378 | SNRPN | 15 | 0.98478561549101 | 11 | 723 | 25222953, 25222958-25222960, 25222963-25222968, 25222978 |
| 379 | UBE3A | 15 | 0.98363774733638 | 43 | 2628 | 25615750, 25615877-25615883, 25616251-25616257, 25616280-25616306, 25616409 |
| 380 | OCA2 | 15 | 0.98609455701232 | 35 | 2517 | 28202838-28202840, 28263655, 28263665-28263669, 28263672, 28273161-28273164, 28326860-28326871, 28326909-28326915, 28326978-28326979 |
| 381 | TRPM1 | 15 | 0.99709060681629 | 14 | 4812 | 31318369-31318370, 31320562, 31320582, 31320585, 31320588, 31320598-31320599, 31320602-31320603, 31320608, 31353645-31353646, 31353649 |
| 382 | SLC12A6 | 15 | 0.98551983782218 | 50 | 3453 | 34527485, 34546714-34546745, 34547535-34547547, 34549895-34549896, 34553142, 34553145 |
| 383 | ACTC1 | 15 | 0.97442680776014 | 29 | 1134 | 35086915-35086943 |
| 384 | SPRED1 | 15 | 0.99925093632959 | 1 | 1335 | 38614570 |
| 385 | IVD | 15 | 0.9992193598751 | 1 | 1281 | 40698048 |
| 386 | CHST14 | 15 | 0.79752431476569 | 229 | 1131 | 40763413-40763589, 40763659-40763665, 40763681, 40763782-40763784, 40763796-40763836 |
| 387 | CAPN3 | 15 | 0.99877450980392 | 3 | 2448 | 42652049, 42691731-42691732 |
| 388 | CDAN1 | 15 | 0.87513572204126 | 460 | 3684 | 43017731, 43019895-43019917, 43019934-43019937, 43026524-43026528, 43028579-43028584, 43028592, 43028605-43028609, 43028612-43028624, 43028667-43028978, 43029211-43029300 |
| 389 | TTBK2 | 15 | 0.99625167336011 | 14 | 3735 | 43067840, 43067846-43067850, 43067855-43067856, 43109273-43109275, 43109280-43109281, 43109284 |
| 390 | STRC | 15 | 0.96715465465465 | 175 | 5328 | 43893090, 43896255-43896259, 43896303-43896312, 43900150-43900156, 43902633, 43903367, 43905021-43905043, 43905076, 43905309-43905345, 43907745-43907751, 43908051, 43908541-43908548, 43910420-43910444, 43910863-43910910 |
| 391 | STRC | 15 | 0.99329983249581 | 4 | 597 | 44002829, 44004774, 44004782, 44004808 |
| 392 | STRC | 15 | 0.98717948717949 | 25 | 1950 | 44007198-44007213, 44007513, 44008003-44008010 |
| 393 | SPG11 | 15 | 0.98567921440262 | 105 | 7332 | 44865846, 44876547-44876549, 44876562, 44888982-44888989, 44888992-44888996, 44892757, 44912445-44912486, 44914516-44914519, 44914523, 44914534, 44941133-44941134, 44941140, 44941149, 44941153-44941159, 44943707-44943708, 44955670-44955673, 44955705-44955724, 44955736 |
| 394 | DUOX2 | 15 | 0.9694426511728 | 142 | 4647 | 45391668-45391674, 45391904, 45392373, 45393010, 45393013, 45398348-45398364, 45403384-45403398, 45403582-45403591, 45403602-45403636, 45403656, 45403659, 45403664-45403670, 45403680, 45403684, 45403697-45403701, 45403704-45403705, 45403709-45403717, 45403720, 45403723-45403732, 45403735-45403739, 45403744, 45403752, 45403757-45403758, 45403761, 45403780-45403783, 45404821, 45405191 |
| 395 | GATM | 15 | 0.99292452830189 | 9 | 1272 | 45654339, 45670616-45670620, 45670628, 45670631, 45670651 |
| 396 | FBN1 | 15 | 0.99744661095636 | 22 | 8616 | 48719893-48719895, 48737612-48737615, 48766756-48766759, 48766766, 48766769-48766774, 48788393, 48791209, 48936954, 48936957 |
| 397 | CEP152 | 15 | 0.99496475327291 | 25 | 4965 | 49030500, 49036441-49036443, 49036447, 49036457, 49036521, 49036528-49036530, 49036540, 49044601, 49044605-49044608, 49044611, 49044614, 49044624, 49052370-49052371, 49052376-49052379 |
| 398 | CYP19A1 | 15 | 0.99867724867725 | 2 | 1512 | 51519977, 51520073 |
| 399 | TPM1 | 15 | 0.96959064327485 | 26 | 855 | 63335118-63335130, 63335137-63335142, 63336014-63336016, 63336020-63336021, 63336024, 63349279 |
| 400 | PPIB | 15 | 0.87250384024578 | 83 | 651 | 64455057, 64455065-64455070, 64455076, 64455081-64455084, 64455093-64455157, 64455162-64455167 |
| 401 | CLN6 | 15 | 0.91132478632479 | 83 | 936 | 68521840-68521922 |
| 402 | NR2E3 | 15 | 0.99547101449275 | 5 | 1104 | 72103130, 72103850, 72103854, 72103867, 72103874 |
| 403 | HCN4 | 15 | 0.69158361018826 | 1114 | 3612 | 73614865-73614870, 73614873-73614874, 73614877-73614892, 73614898-73614934, 73615012-73615072, 73615079-73615085, 73615093-73615150, 73615161-73615188, 73615204, 73615224-73615240, 73615288-73615313, 73615419, 73615449-73615498, 73615504-73615534, 73615575-73615615, 73615644-73615652, 73615661, 73615667-73615670, 73615887-73615929, 73616022-73616041, 73616055-73616089, 73616109, 73616124-73616125, 73616135, 73616141-73616146, 73616152, 73616156-73616178, 73616186, 73616526-73616529, 73616567-73616594, 73659861-73659866, 73659977-73659985, 73660074-73660611 |
| 404 | ETFA | 15 | 0.99900199600798 | 1 | 1002 | 76580243 |
| 405 | PSTPIP1 | 15 | 0.99440447641886 | 7 | 1251 | 77325269-77325274, 77325279 |
| 406 | RPS17 | 15 | 0.97549019607843 | 10 | 408 | 82823299, 82823386-82823393, 82824540 |
| 407 | RPS17 | 15 | 0.97794117647059 | 9 | 408 | 83207642, 83207729-83207736 |
| 408 | FANCI | 15 | 0.99849510910459 | 6 | 3987 | 89790940-89790944, 89849346 |
| 409 | POLG | 15 | 0.95913978494624 | 152 | 3720 | 89876428-89876452, 89876501, 89876599, 89876689, 89876694-89876696, 89876699, 89876777-89876853, 89876865-89876867, 89876921-89876957, 89876983-89876985 |
| 410 | MESP2 | 15 | 0.64572864321608 | 423 | 1194 | 90319725-90319727, 90319730, 90319762, 90319772-90319774, 90319777-90319780, 90319783-90319795, 90319805-90320172, 90320222-90320230, 90320239-90320241, 90320277-90320279, 90320282-90320286, 90320372, 90320386-90320387, 90320473-90320479 |
| 411 | BLM | 15 | 0.9974141984015 | 11 | 4254 | 91333910-91333917, 91337578, 91346830, 91346833 |
| 412 | VPS33B | 15 | 0.99892125134844 | 2 | 1854 | 91551142, 91565391 |
| 413 | IGF1R | 15 | 0.97124756335283 | 118 | 4104 | 99192811-99192904, 99472787-99472788, 99473505, 99473516, 99473521-99473534, 99500631-99500635, 99500638 |
| 414 | HBZ | 16 | 0.34731934731935 | 280 | 429 | 203891-204095, 204271-204338, 204393-204399 |
| 415 | HBM | 16 | 0.64788732394366 | 150 | 426 | 216001-216003, 216006-216007, 216013-216021, 216027-216029, 216082, 216274, 216298-216348, 216351-216364, 216377-216392, 216409-216415, 216426-216445, 216449-216471 |
| 416 | HBA2 | 16 | 0.92307692307692 | 33 | 429 | 222913, 222926-222936, 223212-223229, 223267-223269 |
| 417 | GNPTG | 16 | 0.92919389978214 | 65 | 918 | 1401967-1402018, 1402240-1402241, 1402292-1402302 |
| 418 | CLCN7 | 16 | 0.93052109181141 | 168 | 2418 | 1497032, 1497085-1497087, 1497514, 1497517-1497518, 1497561-1497562, 1498979-1498985, 1499075-1499085, 1524835-1524975 |
| 419 | IGFALS | 16 | 0.90527950310559 | 183 | 1932 | 1840601-1840614, 1840618-1840622, 1840633-1840645, 1840967-1841001, 1841040, 1841044-1841050, 1841109-1841117, 1841186-1841192, 1841220, 1841229-1841231, 1841553-1841558, 1841752-1841757, 1841760-1841761, 1841763-1841764, 1841767-1841777, 1841806, 1841999-1842005, 1842017-1842018, 1842064-1842072, 1842079-1842080, 1842083, 1842092-1842101, 1842117-1842118, 1842248-1842250, 1842371-1842389, 1842392, 1842401-1842404 |
| 420 | GFER | 16 | 0.56472491909385 | 269 | 618 | 2034220-2034477, 2034767-2034772, 2034783-2034784, 2034788, 2034791, 2034796 |
| 421 | TSC2 | 16 | 0.98838495575221 | 63 | 5424 | 2103395-2103398, 2103401-2103404, 2103409, 2103413-2103419, 2103428-2103431, 2108767, 2112558, 2112984, 2112987, 2114365-2114395, 2121863, 2121866, 2121924, 2121927, 2134438-2134441 |
| 422 | PKD1 | 16 | 0.83232651796778 | 2165 | 12912 | 2139842-2139847, 2139895-2139908, 2140051-2140052, 2140057, 2140734-2140737, 2140758-2140763, 2140769, 2140772, 2140791-2140795, 2140912-2140924, 2140930-2140932, 2140935, 2140963-2140966, 2140973-2141175, 2141424-2141598, 2141807, 2141810, 2141833-2141845, 2141848-2141849, 2141852, 2142061, 2142509, 2142564-2142569, 2143061, 2143997, 2147157-2147164, 2147191-2147196, 2147203-2147227, 2147940-2147952, 2147968-2147985, 2149730-2149753, 2149962-2149969, 2150047, 2150055, 2150058, 2150067-2150068, 2150470-2150484, 2150518, 2153267-2153313, 2153388, 2153395-2153399, 2153403, 2153447, 2153592-2153598, 2153630, 2153642-2153644, 2153653-2153783, 2153832-2153833, 2154539-2154643, 2155333-2155374, 2155455-2155458, 2155923-2155955, 2155984, 2156250-2156265, 2156399-2156404, 2156416-2156462, 2156481-2156526, 2156597-2156613, 2156666, 2156669, 2156809-2156811, 2156816, 2158257-2158258, 2158310-2158316, 2158410, 2158516-2158519, 2158561-2158563, 2158575-2158578, 2158638, 2158712-2158718, 2158740, 2158745-2158747, 2158794, 2158797, 2159045, 2159098-2159103, 2159227-2159235, 2159311-2159319, 2159389-2159409, 2159484, 2159960-2159966, 2160100-2160144, 2160496, 2160679-2160699, 2160714-2160732, 2160769-2160775, 2161150-2161156, 2161300-2161306, 2161468-2161471, 2161505-2161534, 2161759, 2161791-2161837, 2162944-2162964, 2163173, 2164209-2164218, 2164438-2164444, 2164563-2164569, 2164654-2164686, 2164803-2164812, 2164919-2164925, 2165485-2165487, 2166555, 2166565, 2166847-2166860, 2166907-2166932, 2166976-2166979, 2166988, 2166996, 2167672-2167673, 2167802, 2167807, 2167871-2167878, 2167915-2167976, 2167984-2168001, 2168056-2168080, 2168125-2168202, 2168209-2168229, 2168256-2168266, 2168281-2168307, 2168316-2168427, 2168692-2168719, 2168734, 2168739-2168740, 2168750, 2168772-2168785, 2169379, 2185476-2185690 |
| 423 | ABCA3 | 16 | 0.98044965786901 | 100 | 5115 | 2328957-2328986, 2334307-2334310, 2334953-2334979, 2338028, 2338041, 2338044, 2338063-2338067, 2338069, 2338072-2338076, 2338081-2338089, 2339548-2339549, 2347399-2347400, 2347404-2347408, 2367372-2367378 |
| 424 | MEFV | 16 | 0.95140664961637 | 114 | 2346 | 3304201-3304203, 3304410-3304412, 3304430-3304455, 3304458, 3304460-3304472, 3304495, 3304500-3304506, 3304547, 3304550, 3304556-3304560, 3304565-3304566, 3304621-3304626, 3304647, 3304654, 3304658, 3304661, 3304671-3304700, 3304735-3304743, 3306345-3306346 |
| 425 | SLX4 | 16 | 0.98383287920073 | 89 | 5505 | 3632378-3632380, 3632384-3632389, 3632392-3632397, 3632400-3632408, 3632475-3632489, 3632580-3632589, 3632594-3632595, 3632600-3632606, 3633287-3633288, 3633312-3633321, 3639540-3639542, 3639790, 3639794, 3639993-3639994, 3642813-3642820, 3647899-3647900, 3647903, 3651027 |
| 426 | CREBBP | 16 | 0.89207258834766 | 791 | 7329 | 3777730, 3777748, 3777755-3777758, 3777765-3777768, 3777771-3777775, 3777778-3777786, 3777789-3777801, 3778139, 3778283-3778295, 3778299-3778300, 3778304-3778312, 3778393-3778395, 3778398-3778465, 3778471-3778472, 3778559-3778583, 3778595-3778618, 3778629-3778646, 3778689, 3778790-3778817, 3778839-3778870, 3778878-3778913, 3778933-3778939, 3778953-3778977, 3778998-3779005, 3779014, 3779070-3779096, 3779121-3779127, 3779168-3779175, 3779189-3779237, 3779256-3779295, 3779308-3779316, 3779359-3779498, 3779564-3779570, 3779706-3779719, 3779777-3779787, 3828046-3828049, 3828058, 3831231-3831235, 3831246-3831274, 3831277, 3843532, 3843535, 3843539-3843540, 3900781, 3900794-3900802, 3929833-3929917 |
| 427 | GLIS2 | 16 | 0.88761904761905 | 177 | 1575 | 4384874, 4384877, 4384964-4384968, 4384973, 4386813-4386817, 4386982-4387008, 4387028-4387060, 4387068-4387119, 4387142-4387167, 4387194-4387198, 4387373-4387379, 4387387-4387395, 4387419, 4387439-4387441, 4387458 |
| 428 | ALG1 | 16 | 0.90394265232975 | 134 | 1395 | 5121874, 5121877-5121879, 5121892-5121898, 5121902-5121903, 5122011-5122018, 5128855-5128865, 5128867-5128870, 5130969-5130999, 5131023, 5131034, 5132600-5132639, 5133741-5133758, 5134815-5134821 |
| 429 | ABAT | 16 | 0.99467731204258 | 8 | 1503 | 8829638-8829639, 8829661, 8870236-8870237, 8870311, 8870329-8870330 |
| 430 | MYH11 | 16 | 0.99680134680135 | 19 | 5940 | 15808813, 15811127-15811134, 15811152-15811153, 15835328, 15835331-15835333, 15839087, 15839092-15839094 |
| 431 | ABCC6 | 16 | 0.9813829787234 | 84 | 4512 | 16244034, 16251641, 16251657, 16263541, 16263545, 16263549, 16267200, 16267203, 16291961, 16292020, 16297387-16297391, 16302647-16302651, 16313509-16313515, 16315642-16315682, 16317267-16317268, 16317271-16317283, 16317290 |
| 432 | UMOD | 16 | 0.98439937597504 | 30 | 1923 | 20359861, 20359874-20359875, 20359878-20359886, 20359995-20359998, 20360101, 20360112-20360118, 20360139-20360144 |
| 433 | OTOA | 16 | 0.98304093567251 | 58 | 3420 | 21689921-21689925, 21747630-21747642, 21752092-21752126, 21768442-21768446 |
| 434 | OTOA | 16 | 0.9578313253012 | 42 | 996 | 22568214-22568248, 22584582-22584586, 22584612, 22584644 |
| 435 | SCNN1B | 16 | 0.97347893915757 | 51 | 1923 | 23359923, 23359932-23359936, 23359948-23359955, 23359964, 23359968-23359975, 23359978-23359994, 23382648-23382655, 23391916, 23392080-23392081 |
| 436 | COG7 | 16 | 0.99394725464764 | 14 | 2313 | 23415075-23415082, 23415101, 23415108, 23421626-23421628, 23436121 |
| 437 | PALB2 | 16 | 0.99803426003931 | 7 | 3561 | 23640578-23640579, 23640588, 23646356-23646359 |
| 438 | CLN3 | 16 | 0.99696279422931 | 4 | 1317 | 28497707, 28497718-28497720 |
| 439 | TUFM | 16 | 0.98830409356725 | 16 | 1368 | 28857387, 28857402-28857403, 28857412, 28857418, 28857557-28857565, 28857570-28857571 |
| 440 | ATP2A1 | 16 | 0.99035262807718 | 29 | 3006 | 28895955, 28909380-28909382, 28909391-28909394, 28912110, 28912113-28912120, 28912130-28912141 |
| 441 | CD19 | 16 | 0.99700777977259 | 5 | 1671 | 28946782-28946786 |
| 442 | PHKG2 | 16 | 0.92137592137592 | 96 | 1221 | 30760142-30760231, 30764719, 30764732, 30764737-30764739, 30768309 |
| 443 | VKORC1 | 16 | 0.97560975609756 | 12 | 492 | 31104728-31104730, 31105948-31105953, 31105956-31105958 |
| 444 | FUS | 16 | 0.9493991144845 | 80 | 1581 | 31193846, 31193875-31193877, 31193881-31193885, 31195261-31195268, 31195275, 31195294-31195296, 31195299, 31195308-31195315, 31195559-31195560, 31195565-31195566, 31195576-31195577, 31195581, 31195587-31195589, 31196399-31196438 |
| 445 | SLC5A2 | 16 | 0.91827637444279 | 165 | 2019 | 31499943-31499957, 31500008-31500023, 31500029-31500034, 31500043-31500093, 31500289-31500318, 31500444-31500475, 31500514-31500525, 31501441, 31501746-31501747 |
| 446 | PHKB | 16 | 0.99299207800122 | 23 | 3282 | 47495270-47495271, 47495278-47495280, 47495283, 47622916, 47695634-47695647, 47695654, 47722983 |
| 447 | NOD2 | 16 | 0.99263528658341 | 23 | 3123 | 50745445-50745450, 50745521, 50745525-50745528, 50745798-50745801, 50745807, 50745811, 50745819, 50745825-50745827, 50745929, 50746247 |
| 448 | CYLD | 16 | 0.9937106918239 | 18 | 2862 | 50785589, 50785690, 50785695, 50785699, 50785720, 50785735-50785736, 50785741, 50826565-50826567, 50826573-50826578, 50826602 |
| 449 | SALL1 | 16 | 0.97559748427673 | 97 | 3975 | 51175242-51175256, 51175415-51175424, 51175436-51175439, 51175656-51175689, 51175696-51175701, 51175705, 51185083-51185109 |
| 450 | RPGRIP1L | 16 | 0.99924012158055 | 3 | 3948 | 53691439, 53691442, 53691470 |
| 451 | MMP2 | 16 | 0.96974281391831 | 60 | 1983 | 55513395-55513405, 55513407, 55513414, 55513420, 55513423, 55513428-55513434, 55513444-55513447, 55513449-55513454, 55513458, 55513463-55513477, 55513481, 55513486-55513492, 55513510, 55513528, 55525742, 55530843 |
| 452 | BBS2 | 16 | 0.99953831948292 | 1 | 2166 | 56548476 |
| 453 | SLC12A3 | 16 | 0.99644358228257 | 11 | 3093 | 56901098, 56901106, 56921837-56921842, 56921934, 56921937, 56926883 |
| 454 | COQ9 | 16 | 0.99895506792059 | 1 | 957 | 57481429 |
| 455 | GPR56 | 16 | 0.99903100775194 | 2 | 2064 | 57684213-57684214 |
| 456 | CNGB1 | 16 | 0.99574014909478 | 16 | 3756 | 57918214-57918218, 57918231-57918234, 57918250-57918255, 57918329 |
| 457 | TK2 | 16 | 0.88528138528139 | 106 | 924 | 66583841-66583905, 66583920-66583947, 66583970-66583972, 66584011, 66584014-66584015, 66584022, 66584026-66584031 |
| 458 | HSD11B2 | 16 | 0.73399014778325 | 324 | 1218 | 67465152-67465372, 67465397-67465416, 67469976-67470014, 67470038-67470041, 67470044-67470045, 67470241-67470248, 67470254, 67470257-67470261, 67470539, 67470548-67470550, 67470673-67470683, 67470690-67470698 |
| 459 | LCAT | 16 | 0.98715041572184 | 17 | 1323 | 67976999-67977003, 67977044-67977050, 67977111-67977115 |
| 460 | CDH3 | 16 | 0.97670682730924 | 58 | 2490 | 68679552-68679597, 68679618, 68725812-68725818, 68725825, 68725828-68725829, 68732168 |
| 461 | CDH1 | 16 | 0.98150245375613 | 49 | 2649 | 68771319-68771366, 68857464 |
| 462 | CIRH1A | 16 | 0.99951479864144 | 1 | 2061 | 69173757 |
| 463 | COG8 | 16 | 0.85481239804241 | 267 | 1839 | 69364749-69364761, 69364776-69364800, 69364806-69364868, 69366733-69366735, 69373080-69373165, 69373174-69373183, 69373215-69373268, 69373308-69373310, 69373313, 69373320, 69373328, 69373348-69373354 |
| 464 | AARS | 16 | 0.99931200550396 | 2 | 2907 | 70316655-70316656 |
| 465 | HP | 16 | 0.996723996724 | 4 | 1221 | 72091295, 72091307-72091308, 72091311 |
| 466 | GCSH | 16 | 0.71647509578544 | 148 | 522 | 81129736-81129883 |
| 467 | GAN | 16 | 0.90468227424749 | 171 | 1794 | 81348719-81348885, 81388060-81388061, 81388218-81388219 |
| 468 | MLYCD | 16 | 0.68825910931174 | 462 | 1482 | 83932750-83933126, 83933142-83933143, 83933146, 83933151, 83933157, 83933161-83933177, 83933183, 83933192-83933205, 83933208-83933241, 83933245, 83933256-83933265, 83933267-83933268, 83948777 |
| 469 | LRRC50 | 16 | 0.99449035812672 | 12 | 2178 | 84179082, 84179094-84179099, 84183930, 84199441-84199444 |
| 470 | FOXF1 | 16 | 0.66052631578947 | 387 | 1140 | 86544176-86544238, 86544245-86544251, 86544259-86544324, 86544376, 86544387, 86544414-86544446, 86544505-86544509, 86544514, 86544516-86544519, 86544524-86544525, 86544530-86544536, 86544546-86544547, 86544553, 86544566-86544586, 86544589-86544601, 86544603-86544608, 86544665, 86544668, 86544687-86544716, 86544737-86544738, 86544758, 86544772, 86544789-86544790, 86544854, 86544858-86544866, 86544871-86544932, 86544942-86544956, 86544974-86544984, 86544994-86545003, 86545012-86545018, 86545105 |
| 471 | FOXC2 | 16 | 0.54249667994688 | 689 | 1506 | 86601000, 86601029, 86601032, 86601038, 86601047, 86601088-86601091, 86601143, 86601282, 86601422-86601423, 86601440, 86601448-86601449, 86601469, 86601472, 86601507-86601540, 86601590-86601596, 86601602-86601609, 86601634-86602202, 86602227, 86602261-86602264, 86602271-86602291, 86602341-86602366, 86602425 |
| 472 | JPH3 | 16 | 0.81931464174455 | 406 | 2247 | 87636874-87636876, 87636881-87636886, 87636904, 87636907-87636921, 87636924-87636935, 87637057-87637071, 87678038-87678046, 87678126-87678168, 87678249, 87678255, 87678267-87678306, 87678492, 87678588, 87723273-87723275, 87723317, 87723322-87723327, 87723330, 87723347, 87723355-87723357, 87723360, 87723424-87723426, 87723432-87723434, 87723443, 87723449-87723476, 87723486-87723496, 87723503, 87723507-87723564, 87723570, 87723575-87723583, 87723594-87723624, 87723630-87723691, 87723713-87723716, 87723738-87723750, 87723754-87723768, 87723972, 87723984 |
| 473 | CYBA | 16 | 0.77210884353741 | 134 | 588 | 88709761-88709791, 88709816, 88709876-88709885, 88709888, 88709896-88709901, 88709923-88709971, 88709977, 88712562-88712568, 88712592-88712597, 88712600-88712605, 88717372-88717381, 88717386-88717391 |
| 474 | APRT | 16 | 0.83977900552486 | 87 | 543 | 88878027-88878033, 88878228-88878307 |
| 475 | GALNS | 16 | 0.89165073295092 | 170 | 1569 | 88884451-88884493, 88884500-88884506, 88923166-88923285 |
| 476 | SPG7 | 16 | 0.90745393634841 | 221 | 2388 | 89574826-89575008, 89576898, 89579413-89579423, 89598356, 89598364, 89598367-89598375, 89598395, 89614501-89614514 |
| 477 | FANCA | 16 | 0.97000915750916 | 131 | 4368 | 89805029, 89805032, 89805047, 89837027, 89837033-89837042, 89839742-89839746, 89839751-89839762, 89839768, 89839776-89839777, 89842165-89842172, 89842178-89842179, 89842184-89842187, 89877364, 89877367-89877369, 89882945-89883023 |
| 478 | TUBB3 | 16 | 0.86031042128603 | 189 | 1353 | 89989810-89989866, 90001283, 90001287-90001288, 90001592-90001613, 90001696-90001702, 90001712-90001715, 90001717-90001718, 90001775-90001785, 90001788-90001793, 90001795-90001820, 90001840, 90001896-90001945 |
| 479 | PRPF8 | 17 | 0.99871575342466 | 9 | 7008 | 1561573, 1577176-1577182, 1577185 |
| 480 | ASPA | 17 | 0.9968152866242 | 3 | 942 | 3385041, 3402371-3402372 |
| 481 | CTNS | 17 | 0.99501246882793 | 6 | 1203 | 3559823-3559825, 3560052-3560054 |
| 482 | CHRNE | 17 | 0.93657219973009 | 94 | 1482 | 4802181-4802186, 4802353-4802402, 4802493-4802499, 4802634-4802638, 4802652, 4802766-4802784, 4804091-4804095, 4804427 |
| 483 | GP1BA | 17 | 0.97604166666667 | 46 | 1920 | 4835902-4835911, 4836304, 4837212-4837217, 4837220-4837231, 4837239-4837245, 4837425, 4837478, 4837544, 4837552, 4837756-4837760, 4837779 |
| 484 | ENO3 | 17 | 0.99616858237548 | 5 | 1305 | 4858480, 4858483-4858486 |
| 485 | PITPNM3 | 17 | 0.91555555555556 | 247 | 2925 | 6358660-6358667, 6358669-6358673, 6358675-6358692, 6358697-6358720, 6358731-6358734, 6358741-6358743, 6358746, 6358749, 6358768-6358770, 6358775, 6358785, 6358790, 6358794-6358801, 6358807-6358854, 6358870-6358879, 6358881, 6358889, 6358901-6358963, 6360949-6360952, 6367614, 6374517, 6376024-6376031, 6382018-6382021, 6382024-6382026, 6387070-6387072, 6459705-6459726 |
| 486 | ACADVL | 17 | 0.98526422764228 | 29 | 1968 | 7123316, 7123335-7123344, 7126041, 7127665-7127666, 7127671, 7127675-7127676, 7127698-7127702, 7127823-7127829 |
| 487 | CHRNB1 | 17 | 0.97742363877822 | 34 | 1506 | 7348480, 7348492-7348495, 7348617, 7350167-7350176, 7350183-7350192, 7357656, 7357659, 7357665-7357667, 7359257-7359259 |
| 488 | MPDU1 | 17 | 0.97715053763441 | 17 | 744 | 7490487, 7490497-7490500, 7490508-7490511, 7490525, 7490534-7490540 |
| 489 | GUCY2D | 17 | 0.84027777777778 | 529 | 3312 | 7906366-7906798, 7906805-7906839, 7906846-7906871, 7906899, 7906915, 7906930-7906936, 7906988, 7906996-7907000, 7907170-7907175, 7907184, 7907228, 7907230, 7907353, 7915521-7915522, 7915537, 7915541, 7915873-7915875, 7919807, 7919811, 7919826 |
| 490 | ALOX12B | 17 | 0.97720797720798 | 48 | 2106 | 7976197, 7976222-7976227, 7976265-7976268, 7976633, 7982787, 7982791-7982795, 7983095-7983097, 7983171-7983178, 7984435-7984436, 7984441, 7984449-7984458, 7984461-7984464, 7984467, 7990655 |
| 491 | ALOXE3 | 17 | 0.97799625468165 | 47 | 2136 | 8012574, 8013237-8013273, 8013305-8013306, 8013743, 8013772, 8013775, 8020274-8020277 |
| 492 | HES7 | 17 | 0.27286135693215 | 493 | 678 | 8024889-8025340, 8025661, 8025670, 8025676-8025680, 8025686, 8025692-8025699, 8025710-8025716, 8025731-8025748 |
| 493 | MYH8 | 17 | 0.99294805641555 | 41 | 5814 | 10293857, 10301921, 10302903, 10304643-10304679, 10317738 |
| 494 | MYH2 | 17 | 0.99467902506008 | 31 | 5826 | 10424678-10424685, 10424691-10424700, 10427907-10427913, 10429172, 10429176-10429177, 10429180, 10431096, 10431102 |
| 495 | MYH3 | 17 | 0.991069895243 | 52 | 5823 | 10534928-10534966, 10535255-10535256, 10535901-10535910, 10542698 |
| 496 | SCO1 | 17 | 0.99337748344371 | 6 | 906 | 10600684, 10600687, 10600716-10600719 |
| 497 | ELAC2 | 17 | 0.98589278516727 | 35 | 2481 | 12896192, 12899927-12899929, 12899937-12899939, 12909131-12909132, 12909135-12909137, 12921131-12921136, 12921146, 12921226-12921227, 12921231, 12921234-12921246 |
| 498 | COX10 | 17 | 0.97972972972973 | 27 | 1332 | 14095306-14095312, 14110262, 14110271-14110279, 14110443-14110445, 14110456-14110462 |
| 499 | PMP22 | 17 | 0.93374741200828 | 32 | 483 | 15163967-15163994, 15164004-15164005, 15164022-15164023 |
| 500 | TNFRSF13B | 17 | 0.99773242630385 | 2 | 882 | 16843767, 16843782 |
| 501 | FLCN | 17 | 0.99942528735632 | 1 | 1740 | 17118600 |
| 502 | RAI1 | 17 | 0.9472120258696 | 302 | 5721 | 17696342-17696387, 17696421-17696428, 17696438-17696440, 17696445, 17696454-17696482, 17696733-17696747, 17696767-17696772, 17696783, 17696791-17696801, 17696812-17696816, 17697094-17697138, 17697614, 17697619-17697626, 17697629-17697630, 17697716, 17697790-17697793, 17698037-17698039, 17698054-17698079, 17698082-17698089, 17698778-17698791, 17698797-17698828, 17699624-17699625, 17699641, 17699754, 17699758-17699764, 17699837, 17700013, 17700945-17700952, 17700956, 17701543, 17701555, 17701558, 17701566-17701570, 17701596-17701598 |
| 503 | ATPAF2 | 17 | 0.98850574712644 | 10 | 870 | 17924462, 17924468, 17942218-17942225 |
| 504 | MYO15A | 17 | 0.88700084961767 | 1197 | 10593 | 18022476, 18022563, 18022642-18022643, 18022658-18022659, 18023737, 18023743-18023755, 18023760-18023762, 18023787, 18023802-18023803, 18023825-18023886, 18023892-18023945, 18023982-18024690, 18024707-18024716, 18024724-18024744, 18024755, 18024760-18024765, 18024771-18024816, 18024866, 18024875, 18024898, 18025037-18025062, 18025147-18025169, 18025185, 18046920, 18049333-18049344, 18049356-18049360, 18051411-18051415, 18051426, 18057089-18057210, 18061072, 18061099, 18061103, 18061123-18061127, 18061144-18061146, 18061150-18061154, 18061860, 18064631-18064637, 18065939, 18070933, 18070937, 18070943, 18070949-18070977, 18075050-18075051, 18077204, 18077207, 18077210-18077211 |
| 505 | ALDH3A2 | 17 | 0.99672560576293 | 5 | 1527 | 19552358-19552360, 19554906, 19554909 |
| 506 | UNC119 | 17 | 0.69432918395574 | 221 | 723 | 26875023, 26879356-26879575 |
| 507 | NEK8 | 17 | 0.998556998557 | 3 | 2079 | 27064528, 27064531, 27068000 |
| 508 | SLC6A4 | 17 | 0.99471737982039 | 10 | 1893 | 28543162-28543166, 28543213, 28543216-28543218, 28543221 |
| 509 | NF1 | 17 | 0.98697183098592 | 111 | 8520 | 29422328-29422387, 29483118-29483129, 29509585, 29528439, 29546079-29546081, 29546084, 29546089-29546092, 29546107, 29554255, 29654523-29654530, 29654535, 29654548, 29662006-29662022 |
| 510 | HNF1B | 17 | 0.98148148148148 | 31 | 1674 | 36060999-36061005, 36061064-36061066, 36104657-36104663, 36104831-36104835, 36104838-36104840, 36104851-36104856 |
| 511 | TCAP | 17 | 0.98214285714286 | 9 | 504 | 37821636, 37821639, 37821643, 37821646-37821647, 37821650, 37822209-37822211 |
| 512 | KRT10 | 17 | 0.84843304843305 | 266 | 1755 | 38975096, 38975099-38975100, 38975108-38975110, 38975122, 38975130, 38975138-38975143, 38975152, 38975160-38975410 |
| 513 | KRT13 | 17 | 0.99636891793755 | 5 | 1377 | 39657978, 39658747, 39658755, 39658758, 39658761 |
| 514 | KRT9 | 17 | 0.99839743589744 | 3 | 1872 | 39723599-39723600, 39728201 |
| 515 | KRT14 | 17 | 0.95419309372798 | 65 | 1419 | 39739508-39739515, 39739547-39739562, 39739593-39739604, 39739813, 39741304-39741309, 39742664-39742665, 39742850-39742852, 39742862-39742871, 39742995-39743001 |
| 516 | KRT16 | 17 | 0.93670886075949 | 90 | 1422 | 39766280-39766281, 39766699, 39768490-39768496, 39768622-39768664, 39768740-39768772, 39768816, 39768819, 39768838, 39768842 |
| 517 | KRT17 | 17 | 0.92763664357198 | 94 | 1299 | 39776924, 39776985-39776987, 39777012-39777022, 39777041, 39777044-39777047, 39777974-39777996, 39780414-39780420, 39780447-39780471, 39780555-39780571, 39780650, 39780663 |
| 518 | JUP | 17 | 0.98659517426273 | 30 | 2238 | 39913769-39913785, 39915041-39915042, 39915050-39915053, 39925376-39925381, 39925783 |
| 519 | FKBP10 | 17 | 0.99199542595769 | 14 | 1749 | 39969371-39969374, 39974697-39974706 |
| 520 | STAT5B | 17 | 0.96192893401015 | 90 | 2364 | 40369449, 40370278-40370281, 40370808-40370848, 40371359, 40371368-40371373, 40371379, 40371382-40371388, 40371393, 40371397, 40371424-40371449, 40371806 |
| 521 | STAT3 | 17 | 0.99265023778642 | 17 | 2313 | 40468822-40468824, 40468831-40468833, 40485973-40485976, 40491366-40491372 |
| 522 | NAGLU | 17 | 0.86245519713262 | 307 | 2232 | 40688300-40688302, 40688331-40688597, 40688609-40688619, 40688623, 40688629-40688630, 40688642-40688644, 40688654-40688673 |
| 523 | WNK4 | 17 | 0.96650589496249 | 125 | 3732 | 40932721-40932733, 40932744, 40932748-40932754, 40932757, 40932769, 40932777-40932785, 40932788-40932790, 40932795-40932823, 40932837-40932842, 40932850-40932854, 40932868-40932875, 40932882-40932901, 40932912-40932915, 40932918-40932921, 40932984, 40933083-40933089, 40937364-40937367, 40945723, 40945726 |
| 524 | BRCA1 | 17 | 0.99964633068081 | 2 | 5655 | 41223087-41223088 |
| 525 | SOST | 17 | 0.64797507788162 | 226 | 642 | 41832710-41832718, 41832760-41832763, 41832769, 41832783-41832921, 41832927-41832929, 41832950-41832953, 41832963, 41832974-41833002, 41833013-41833016, 41833021-41833022, 41833030, 41833036-41833044, 41833048-41833066, 41833109 |
| 526 | NAGS | 17 | 0.88598130841121 | 183 | 1605 | 42082032-42082084, 42082093, 42082096, 42082134-42082176, 42082189-42082204, 42082226-42082255, 42082301, 42082305, 42082316, 42082326-42082328, 42083209-42083212, 42083251-42083254, 42083408, 42083522-42083526, 42083982-42083987, 42083992, 42083996-42084001, 42084024-42084029 |
| 527 | SLC4A1 | 17 | 0.99195906432749 | 22 | 2736 | 42328571-42328573, 42331882-42331889, 42332649, 42334898-42334901, 42334904, 42335101-42335104, 42335954 |
| 528 | GRN | 17 | 0.95791245791246 | 75 | 1782 | 42426583, 42426610, 42426614-42426617, 42426644, 42426647, 42427037-42427039, 42427047, 42427824-42427828, 42428803-42428804, 42429076, 42429105, 42429111-42429123, 42429126, 42429423, 42429427, 42429567-42429578, 42429595-42429596, 42429726-42429729, 42429732, 42429739-42429740, 42429893-42429899, 42430049-42430052, 42430062-42430067 |
| 529 | ITGA2B | 17 | 0.97788461538462 | 69 | 3120 | 42452403-42452406, 42452411-42452412, 42452416-42452429, 42452435-42452437, 42452440-42452445, 42452447, 42452465, 42452469, 42453074-42453076, 42457106-42457108, 42457466-42457468, 42457481, 42460949, 42460953-42460966, 42460969, 42461054-42461057, 42462555, 42462671, 42462980-42462981, 42462984, 42463078, 42463196 |
| 530 | GFAP | 17 | 0.99307159353349 | 9 | 1299 | 42988748, 42989123, 42992478-42992479, 42992483-42992484, 42992490-42992492 |
| 531 | PLEKHM1 | 17 | 0.99842321034374 | 5 | 3171 | 43530942, 43531332, 43531362, 43553007, 43555461 |
| 532 | MAPT | 17 | 0.98112398112398 | 44 | 2331 | 44039754-44039764, 44051798-44051805, 44055784-44055785, 44060737-44060744, 44061048, 44061165, 44061170-44061172, 44061212-44061213, 44061243-44061250 |
| 533 | WNT3 | 17 | 0.93445692883895 | 70 | 1068 | 44847180, 44847188-44847189, 44847210-44847211, 44851099, 44851104-44851105, 44851117, 44851123, 44851128-44851129, 44851132, 44851192-44851195, 44851201-44851203, 44851206-44851207, 44851245-44851248, 44851255, 44851259, 44851262, 44851268-44851273, 44895929-44895963 |
| 534 | ITGB3 | 17 | 0.96493451626531 | 83 | 2367 | 45331228-45331306, 45369890-45369893 |
| 535 | PNPO | 17 | 0.98091603053435 | 15 | 786 | 46019042, 46019049-46019062 |
| 536 | SGCA | 17 | 0.99914089347079 | 1 | 1164 | 48247654 |
| 537 | COL1A1 | 17 | 0.96951080773606 | 134 | 4395 | 48265936-48265939, 48265945-48265947, 48265975-48265980, 48267940, 48269189-48269196, 48271797, 48272941-48272964, 48276623, 48276779-48276814, 48276917-48276949, 48277148-48277159, 48277225, 48277305-48277308 |
| 538 | NOG | 17 | 0.36337625178827 | 445 | 699 | 54671585-54671928, 54672080-54672129, 54672138-54672177, 54672188-54672194, 54672219, 54672222-54672224 |
| 539 | MKS1 | 17 | 0.99880952380952 | 2 | 1680 | 56292124, 56296519 |
| 540 | RAD51C | 17 | 0.99911582670203 | 1 | 1131 | 56770067 |
| 541 | TRIM37 | 17 | 0.98411053540587 | 46 | 2895 | 57105890, 57105900, 57105923-57105927, 57105932-57105933, 57105936, 57119185-57119199, 57119205, 57134315-57134321, 57138426, 57158522, 57168667-57168674, 57168682-57168683, 57168690 |
| 542 | AP1S2 | 17 | 0.91185897435897 | 55 | 624 | 58180027-58180029, 58180033, 58180036-58180072, 58180079, 58180084-58180085, 58180088, 58180101-58180102, 58180105-58180112 |
| 543 | CA4 | 17 | 0.93397231096912 | 62 | 939 | 58227396-58227400, 58227404-58227418, 58227424, 58227431, 58227438-58227443, 58236674-58236697, 58236709-58236710, 58236714-58236720, 58236728 |
| 544 | TBX4 | 17 | 0.95177045177045 | 79 | 1638 | 59533894-59533913, 59533922-59533927, 59533933, 59533948, 59533955-59533960, 59533964-59533965, 59533969-59533971, 59533977-59534006, 59534012, 59534024, 59534026, 59534029-59534035 |
| 545 | BRIP1 | 17 | 0.9992 | 3 | 3750 | 59763347, 59793335-59793336 |
| 546 | ACE | 17 | 0.91558275950013 | 331 | 3921 | 61554456-61554704, 61558548, 61561813-61561817, 61561820, 61561833, 61561836-61561841, 61574189-61574197, 61574259, 61574261-61574267, 61574277, 61574280-61574283, 61574286, 61574316, 61574567-61574571, 61574574-61574579, 61574582-61574583, 61574594-61574600, 61574603, 61574643, 61574660, 61574663, 61574667-61574672, 61574685, 61574688, 61574691-61574693, 61574695-61574701, 61574718, 61574725 |
| 547 | TACO1 | 17 | 0.99217002237136 | 7 | 894 | 61678561-61678565, 61678572, 61678576 |
| 548 | SCN4A | 17 | 0.98929413899474 | 59 | 5511 | 62019261-62019265, 62036682-62036683, 62038699-62038731, 62038749-62038761, 62038786-62038791 |
| 549 | POLG2 | 17 | 0.99588477366255 | 6 | 1458 | 62476472, 62476481, 62476484-62476487 |
| 550 | AXIN2 | 17 | 0.97669826224329 | 59 | 2532 | 63533084-63533110, 63533117, 63533163, 63533658, 63533661-63533673, 63533679-63533688, 63533866, 63534335-63534339 |
| 551 | PRKAR1A | 17 | 0.99912739965096 | 1 | 1146 | 66526560 |
| 552 | SOX9 | 17 | 0.78169934640523 | 334 | 1530 | 70117636-70117640, 70117643-70117644, 70117649, 70117653-70117658, 70117694-70117712, 70117751-70117781, 70117800-70117848, 70117874-70117875, 70118874, 70118880, 70118885, 70118907, 70119049-70119057, 70119735-70119736, 70119761, 70119810-70119816, 70119823-70119826, 70119912-70119918, 70119963-70119968, 70119984-70119987, 70119989, 70119991-70119997, 70120007-70120017, 70120036-70120084, 70120104-70120153, 70120210-70120240, 70120364-70120389 |
| 553 | COG1 | 17 | 0.90078151546041 | 292 | 2943 | 71189209-71189497, 71189514, 71199250-71199251 |
| 554 | DNAI2 | 17 | 0.98129812981298 | 34 | 1818 | 72306213-72306246 |
| 555 | USH1G | 17 | 0.96825396825397 | 44 | 1386 | 72915571-72915575, 72915640, 72916062-72916073, 72916184-72916194, 72916211-72916212, 72916485-72916486, 72916493-72916497, 72916506-72916508, 72919044, 72919048, 72919063 |
| 556 | SLC25A19 | 17 | 0.99896157840083 | 1 | 963 | 73279624 |
| 557 | TSEN54 | 17 | 0.86337760910816 | 216 | 1581 | 73512642-73512697, 73512831, 73512834, 73512841-73512849, 73512864-73512877, 73512897-73512970, 73512977-73512991, 73513152-73513153, 73517948-73517949, 73517953-73517956, 73517961-73517972, 73518289-73518290, 73518309, 73518313-73518315, 73518319-73518324, 73518334, 73518339, 73518343, 73518376-73518386 |
| 558 | ITGB4 | 17 | 0.94002559882977 | 328 | 5469 | 73720816, 73723515-73723524, 73726334, 73726437, 73726442, 73726452, 73726476, 73726972-73726973, 73727001-73727004, 73727008, 73727028, 73732680, 73733674, 73733677, 73733685-73733707, 73733714-73733724, 73736518, 73738483, 73738712-73738761, 73738770-73738816, 73746761, 73749864-73749871, 73749910-73750055, 73751807-73751810, 73751851-73751852, 73751866, 73751869-73751873, 73753052 |
| 559 | GALK1 | 17 | 0.93044953350297 | 82 | 1179 | 73754310-73754311, 73754317, 73754324-73754325, 73754680, 73759207-73759208, 73761106, 73761111-73761117, 73761128-73761134, 73761159-73761217 |
| 560 | UNC13D | 17 | 0.987167736022 | 42 | 3273 | 73825060, 73826459, 73826659-73826660, 73826706, 73826710-73826711, 73827366-73827368, 73827375-73827385, 73827396-73827400, 73830758, 73830766-73830773, 73832302, 73832305-73832306, 73836846-73836847, 73839114, 73840385 |
| 561 | ACOX1 | 17 | 0.99596570852244 | 8 | 1983 | 73956353, 73975057-73975063 |
| 562 | SEPT9 | 17 | 0.92049971607041 | 140 | 1761 | 75478414-75478417, 75494605-75494740 |
| 563 | GAA | 17 | 0.97096887023435 | 83 | 2859 | 78078553-78078555, 78078560, 78078709, 78078730-78078737, 78079669, 78081519, 78083758-78083796, 78086679-78086687, 78086693-78086695, 78086710-78086712, 78086716, 78087028-78087030, 78087037, 78087065, 78087068, 78091450-78091451, 78092534-78092536, 78092543, 78092550 |
| 564 | SGSH | 17 | 0.96288933068257 | 56 | 1509 | 78188837, 78188857-78188859, 78190843-78190845, 78190860-78190861, 78194044-78194055, 78194073-78194100, 78194103-78194109 |
| 565 | FSCN2 | 17 | 0.81676808654496 | 271 | 1479 | 79495767-79495792, 79495808-79495813, 79495821-79495827, 79495848-79495861, 79495867, 79495880-79495886, 79495975, 79496005, 79496159, 79503648, 79503901-79504106 |
| 566 | LPIN2 | 18 | 0.99888517279822 | 3 | 2691 | 2951115, 2951124-2951125 |
| 567 | TGIF1 | 18 | 0.99502487562189 | 6 | 1206 | 3452215-3452216, 3452223, 3452233, 3452248, 3452261 |
| 568 | NDUFV2 | 18 | 0.964 | 27 | 750 | 9102750-9102768, 9102774-9102775, 9124916-9124921 |
| 569 | AFG3L2 | 18 | 0.95029239766082 | 119 | 2394 | 12351342, 12358869, 12358892-12358894, 12376968-12377081 |
| 570 | NPC1 | 18 | 0.98305968204326 | 65 | 3837 | 21119927-21119931, 21123472, 21123475, 21124936, 21136369-21136376, 21136382-21136384, 21136391-21136397, 21152038-21152039, 21152049, 21152059, 21166272-21166306 |
| 571 | LAMA3 | 18 | 0.9877024595081 | 123 | 10002 | 21269648-21269707, 21269710-21269714, 21269722, 21269738-21269739, 21269742-21269744, 21269747, 21269749-21269753, 21269764-21269765, 21269768-21269779, 21269783-21269795, 21269878, 21269885, 21269894, 21269907-21269908, 21269919-21269921, 21338438, 21338441, 21343452, 21393021, 21419842, 21426463-21426465, 21483947-21483948, 21483951 |
| 572 | DSC3 | 18 | 0.97324414715719 | 72 | 2691 | 28574191-28574195, 28574277, 28588007, 28588076, 28602390, 28622563-28622625 |
| 573 | DSC2 | 18 | 0.97376201034738 | 71 | 2706 | 28650776, 28669531, 28681866-28681934 |
| 574 | DSG2 | 18 | 0.98599940422997 | 47 | 3357 | 29078215-29078259, 29104432, 29121164 |
| 575 | LOXHD1 | 18 | 0.96639541892706 | 223 | 6636 | 44057584, 44104519-44104549, 44126858-44127021, 44140093-44140096, 44140114-44140115, 44140123, 44140135-44140139, 44140232, 44140235, 44140309-44140310, 44140378-44140388 |
| 576 | MYO5B | 18 | 0.99351000540833 | 36 | 5547 | 47390524, 47429127-47429129, 47480747-47480749, 47489333, 47581738, 47721137-47721163 |
| 577 | SMAD4 | 18 | 0.94394213381555 | 93 | 1659 | 48584511, 48593482-48593510, 48603032-48603093, 48603132 |
| 578 | TCF4 | 18 | 0.99503968253968 | 10 | 2016 | 52928734, 52946809-52946817 |
| 579 | FECH | 18 | 0.94496124031008 | 71 | 1290 | 55217950, 55247370-55247372, 55253786-55253852 |
| 580 | ATP8B1 | 18 | 0.98269435569755 | 65 | 3756 | 55315767, 55315776-55315777, 55315782, 55315854-55315871, 55315874, 55315880-55315882, 55322543, 55328520-55328522, 55328529-55328545, 55328556-55328557, 55328560, 55328683-55328685, 55328694, 55334392-55334399, 55364864-55364866 |
| 581 | RAX | 18 | 0.5581171950048 | 460 | 1041 | 56936246-56936255, 56936261, 56936295-56936328, 56936355, 56936359-56936391, 56936395, 56936406-56936409, 56936423, 56936429-56936436, 56936448-56936450, 56936455-56936456, 56936468-56936628, 56936733, 56939780-56939818, 56939826-56939834, 56940150-56940177, 56940183-56940211, 56940217-56940235, 56940249, 56940257, 56940259-56940286, 56940289, 56940294, 56940300, 56940307-56940313, 56940326-56940330, 56940348-56940353, 56940362, 56940365-56940374, 56940393-56940400, 56940403-56940408 |
| 582 | LMAN1 | 18 | 0.97325505544684 | 41 | 1533 | 57000417-57000419, 57000446, 57000454-57000461, 57020511-57020515, 57020533, 57026381, 57026400-57026411, 57026419-57026428 |
| 583 | CCBE1 | 18 | 0.94676494676495 | 65 | 1221 | 57134058-57134060, 57134063, 57134067-57134068, 57134072-57134073, 57134079, 57134082-57134105, 57364521-57364552 |
| 584 | TNFRSF11A | 18 | 0.88492706645057 | 213 | 1851 | 59992586-59992660, 60051990-60051992, 60052083-60052152, 60052166-60052200, 60052225-60052234, 60052240-60052259 |
| 585 | CTDP1 | 18 | 0.87733887733888 | 354 | 2886 | 77439952-77440240, 77457914, 77457964-77457966, 77464789-77464791, 77464796-77464806, 77464820, 77464900-77464902, 77474749-77474754, 77474761, 77474764-77474772, 77474777, 77474780-77474781, 77475085-77475086, 77475509-77475512, 77475522-77475523, 77496456-77496459, 77496463, 77496466-77496469, 77496482-77496487, 77513721 |
| 586 | ELANE | 19 | 0.70646766169154 | 236 | 804 | 852876-852889, 852903-852941, 852949-852976, 853262-853403, 856152-856164 |
| 587 | KISS1R | 19 | 0.29239766081871 | 847 | 1197 | 917503-917746, 918544-918562, 918583-918622, 918628-918668, 919563, 919568, 919578, 919874-919913, 919926-919953, 919969-919974, 919980-919985, 920009, 920050, 920084-920106, 920290-920476, 920486-920531, 920540-920631, 920641-920646, 920670-920715, 920727-920744 |
| 588 | STK11 | 19 | 0.92703533026114 | 95 | 1302 | 1207026-1207036, 1219409-1219412, 1220638-1220639, 1220643-1220645, 1226567-1226609, 1226615-1226646 |
| 589 | NDUFS7 | 19 | 0.9595015576324 | 26 | 642 | 1383933-1383941, 1387826, 1387831, 1387834-1387846, 1388573-1388574 |
| 590 | GAMT | 19 | 0.78395061728395 | 175 | 810 | 1398709, 1401295-1401332, 1401340-1401475 |
| 591 | RAX2 | 19 | 0.78378378378378 | 120 | 555 | 3770636, 3770639-3770679, 3770690-3770699, 3770711, 3770745-3770791, 3770907-3770926 |
| 592 | MAP2K2 | 19 | 0.92352452202826 | 92 | 1203 | 4123781-4123872 |
| 593 | TUBB4 | 19 | 0.93483146067416 | 87 | 1335 | 6495233-6495237, 6495363-6495370, 6495437-6495438, 6495631-6495633, 6495639-6495645, 6495655-6495660, 6495676-6495679, 6502167, 6502173-6502223 |
| 594 | C3 | 19 | 0.97395833333333 | 130 | 4992 | 6707087-6707094, 6707102-6707112, 6707120-6707127, 6707144-6707150, 6707158-6707164, 6707185, 6707205-6707206, 6707217, 6707232-6707241, 6707244, 6707817-6707818, 6707822-6707826, 6707837, 6707842-6707843, 6709698-6709705, 6709794, 6709798-6709804, 6709827, 6709830, 6709844, 6711173, 6713262, 6713266, 6713276-6713284, 6713504-6713507, 6720572-6720600 |
| 595 | INSR | 19 | 0.97469269703543 | 105 | 4149 | 7184497-7184499, 7184537, 7184540, 7293803-7293902 |
| 596 | MCOLN1 | 19 | 0.97934595524957 | 36 | 1743 | 7589894, 7594000, 7594515-7594526, 7595261-7595271, 7595281-7595291 |
| 597 | PNPLA6 | 19 | 0.95682730923695 | 172 | 3984 | 7606524-7606530, 7606916-7606918, 7607459-7607460, 7607469-7607472, 7615884, 7615900, 7615903, 7615916-7615918, 7615926-7615934, 7615937-7615938, 7615949-7615954, 7615957-7615961, 7615968, 7615993, 7616298-7616299, 7619106, 7619145-7619147, 7619514-7619532, 7619850, 7619911-7619951, 7620165-7620200, 7620216-7620229, 7620250, 7620614-7620615, 7620620-7620621, 7620631-7620632, 7622074-7622075 |
| 598 | STXBP2 | 19 | 0.97586980920314 | 43 | 1782 | 7702036-7702046, 7702056-7702065, 7702069-7702072, 7706658, 7706662, 7706670-7706671, 7706676, 7706683-7706685, 7706696-7706702, 7711148, 7711153-7711154 |
| 599 | ADAMTS10 | 19 | 0.9417270531401 | 193 | 3312 | 8645782, 8645786, 8649836-8649871, 8649893-8649901, 8650016-8650021, 8650042-8650050, 8650102-8650112, 8650118, 8650121-8650123, 8650152-8650157, 8650165-8650178, 8650184, 8650187-8650189, 8650341, 8650345, 8650359-8650360, 8650363-8650365, 8650371, 8650409-8650414, 8650453-8650496, 8654159, 8654174-8654190, 8654247-8654248, 8654337, 8656929, 8660757, 8660780, 8669931, 8670108-8670109, 8670131, 8670136-8670140, 8670570 |
| 600 | TYK2 | 19 | 0.95426487093154 | 163 | 3564 | 10463134-10463173, 10463197, 10463210, 10463213, 10463623-10463625, 10463630, 10463652-10463698, 10463709-10463712, 10463719-10463726, 10463756, 10464206-10464219, 10464234, 10464237-10464245, 10468453, 10475291-10475292, 10475295, 10476266-10476284, 10476320, 10476354, 10476361-10476366, 10488944 |
| 601 | DNM2 | 19 | 0.9345579793341 | 171 | 2613 | 10828919-10829079, 10939825-10939827, 10939931-10939932, 10939936, 10940864-10940866, 10941667 |
| 602 | LDLR | 19 | 0.9961285327139 | 10 | 2583 | 11200269-11200278 |
| 603 | PRKCSH | 19 | 0.98361688720857 | 26 | 1587 | 11557969-11557975, 11558275, 11558341-11558348, 11558360, 11558537-11558542, 11558551, 11558554, 11559960 |
| 604 | MAN2B1 | 19 | 0.97397891963109 | 79 | 3036 | 12758103-12758106, 12758348, 12758355-12758357, 12758381-12758384, 12758411-12758412, 12758989-12758992, 12759047-12759048, 12759066, 12759072-12759074, 12759078-12759083, 12759205, 12760783, 12761001, 12767857, 12768273-12768286, 12768291-12768299, 12768302-12768313, 12768328, 12768332-12768336, 12769322, 12776600, 12777457, 12777462 |
| 605 | RNASEH2A | 19 | 0.99888888888889 | 1 | 900 | 12917613 |
| 606 | GCDH | 19 | 0.98025816249051 | 26 | 1317 | 13002128-13002137, 13002146-13002151, 13002156, 13002765-13002772, 13006872 |
| 607 | CACNA1A | 19 | 0.78899082568807 | 1587 | 7521 | 13318127-13318128, 13318153-13318867, 13319570-13319582, 13319592-13319615, 13319621-13319665, 13319678-13319726, 13320173, 13320184-13320188, 13325051, 13409369-13409431, 13409442-13409451, 13409458-13409748, 13409773-13409777, 13409785-13409841, 13409855-13409857, 13409879-13409886, 13409900, 13409981, 13616746-13617038 |
| 608 | NOTCH3 | 19 | 0.86692506459948 | 927 | 6966 | 15271511-15271542, 15271832-15271852, 15271878-15271882, 15271887-15271899, 15271907-15271913, 15271936-15271940, 15271945, 15271992, 15272017-15272025, 15272047-15272048, 15272051-15272055, 15272058-15272060, 15272130, 15272144, 15272194-15272225, 15272234-15272235, 15272519-15272525, 15276680-15276722, 15278149-15278151, 15281166-15281169, 15281179-15281192, 15281220-15281222, 15281252, 15281292, 15281298-15281364, 15281484-15281486, 15281523, 15284910, 15285061-15285065, 15285080, 15285083-15285091, 15285099, 15285102, 15285110, 15288349-15288403, 15288505-15288512, 15288552-15288894, 15291839-15291846, 15295764-15295813, 15296107-15296139, 15298100, 15298789-15298790, 15303061, 15308311-15308321, 15311608-15311716 |
| 609 | CYP4F22 | 19 | 0.99937343358396 | 1 | 1596 | 15648395 |
| 610 | JAK3 | 19 | 0.93007407407407 | 236 | 3375 | 17940917-17940919, 17940929-17941001, 17941024-17941027, 17941312-17941313, 17941321-17941328, 17941331, 17941336-17941340, 17941353-17941406, 17941413-17941421, 17942140-17942149, 17942185-17942190, 17942197-17942209, 17945471, 17945490, 17945494-17945495, 17945500-17945501, 17949124, 17949131-17949134, 17950310-17950313, 17950379-17950383, 17953141-17953145, 17953303-17953306, 17953310, 17953315, 17953319-17953321, 17953860, 17953868-17953872, 17953878-17953885 |
| 611 | SLC5A5 | 19 | 0.98550724637681 | 28 | 1932 | 17983253, 17983276, 17983283-17983285, 17983357, 17983360, 17984947, 17984963, 17984972-17984980, 17984991, 17984996, 17985004-17985009, 17994520-17994521 |
| 612 | IL12RB1 | 19 | 0.98692810457516 | 26 | 1989 | 18171985, 18177476, 18179261, 18191782, 18191795-18191798, 18197570-18197587 |
| 613 | COMP | 19 | 0.77440633245383 | 513 | 2274 | 18895138-18895142, 18896483-18896512, 18896521-18896559, 18896570-18896580, 18897091, 18897094, 18899042, 18899053, 18899063, 18899118-18899128, 18899221-18899263, 18899274-18899282, 18899312-18899316, 18899404-18899416, 18899430, 18899437-18899464, 18899467-18899475, 18899482-18899507, 18899514-18899553, 18899693-18899699, 18899969-18899972, 18899986-18900003, 18900014-18900060, 18900082, 18900106, 18900751-18900833, 18900851-18900857, 18900865-18900911, 18900918-18900923, 18901659-18901673, 18901678, 18901696 |
| 614 | CEBPA | 19 | 0.22098421541318 | 839 | 1077 | 33792246-33792247, 33792251-33792280, 33792288-33792290, 33792348, 33792353-33792358, 33792376-33792381, 33792385-33792388, 33792393, 33792400, 33792504, 33792513, 33792527-33792528, 33792531, 33792541-33793320 |
| 615 | SCN1B | 19 | 0.94795539033457 | 42 | 807 | 35521725-35521764, 35524790, 35524794 |
| 616 | HAMP | 19 | 0.99607843137255 | 1 | 255 | 35775902 |
| 617 | MAG | 19 | 0.94683678894205 | 100 | 1881 | 35790493, 35790522, 35790554, 35790602-35790616, 35790633-35790658, 35790736, 35790750, 35791098-35791101, 35791104, 35791107, 35791110, 35791113-35791159 |
| 618 | PRODH2 | 19 | 0.97889509621353 | 34 | 1611 | 36290981-36290982, 36293943, 36297485-36297488, 36303275-36303289, 36303306, 36303309-36303313, 36303316, 36303331, 36303334-36303337 |
| 619 | NPHS1 | 19 | 0.94793344068706 | 194 | 3726 | 36326637, 36333133, 36336323-36336333, 36336342-36336344, 36336434, 36336437-36336440, 36336578-36336589, 36336599-36336697, 36336910-36336919, 36337045-36337086, 36339029, 36339565-36339572, 36340214 |
| 620 | TYROBP | 19 | 0.99705014749263 | 1 | 339 | 36399081 |
| 621 | SDHAF1 | 19 | 0.59195402298851 | 142 | 348 | 36486177-36486180, 36486186-36486187, 36486194, 36486197-36486206, 36486223-36486251, 36486258-36486266, 36486319-36486326, 36486335-36486383, 36486395-36486422, 36486438, 36486445 |
| 622 | WDR62 | 19 | 0.98884514435696 | 51 | 4572 | 36545874-36545883, 36579998, 36590347, 36590357-36590367, 36594488-36594490, 36594493-36594496, 36595861-36595865, 36595908-36595912, 36595918-36595928 |
| 623 | RYR1 | 19 | 0.94191969306079 | 878 | 15117 | 38931385-38931390, 38931397-38931445, 38931501, 38943617, 38943620, 38943636-38943638, 38943641-38943643, 38943651-38943654, 38948815, 38954150-38954164, 38956790-38956792, 38964323, 38964328-38964329, 38964332-38964339, 38964345-38964349, 38968465, 38968508-38968510, 38976346-38976354, 38976358-38976364, 38976674, 38976678-38976685, 38976793-38976794, 38980872-38980876, 38985103-38985109, 38985117-38985121, 38987506-38987519, 38987532, 38990345-38990376, 38993181-38993191, 38993210-38993215, 38993227, 38993231, 38993233-38993235, 38993242, 38993245, 38993313-38993337, 38993520-38993521, 38993529, 38993547, 38993554, 38997480-38997490, 38998379-38998392, 38998401-38998436, 39008208-39008243, 39013668, 39037099, 39037106-39037112, 39037156-39037166, 39055705, 39055723, 39055736, 39055739-39055740, 39055757-39056239, 39056277-39056280, 39056290-39056297, 39056306-39056313, 39056388 |
| 624 | ACTN4 | 19 | 0.9608918128655 | 107 | 2736 | 39138424, 39138427-39138437, 39138442-39138450, 39138464, 39138472-39138479, 39138482-39138495, 39138506, 39138512, 39138516-39138522, 39138540-39138541, 39138544-39138547, 39214577-39214601, 39214623-39214629, 39214847-39214849, 39214852-39214857, 39214862, 39216469-39216473, 39219644 |
| 625 | DLL3 | 19 | 0.78621432417878 | 397 | 1857 | 39993457-39993470, 39993473-39993478, 39993481-39993482, 39993485, 39993496-39993505, 39993508, 39993511, 39993527-39993669, 39993674, 39993680-39993683, 39993692-39993694, 39997723-39997732, 39997768-39997771, 39997779-39997917, 39997931-39997941, 39997950, 39997964, 39997972-39997978, 39997990, 39997997-39997998, 39998001-39998003, 39998009-39998022, 39998118-39998119, 39998122-39998127, 39998137-39998139, 39998180, 39998250-39998255 |
| 626 | PRX | 19 | 0.97127222982216 | 126 | 4386 | 40900730, 40900865, 40901110-40901114, 40901313-40901316, 40903027-40903030, 40903035-40903036, 40903043-40903048, 40903425-40903432, 40903435, 40903440-40903441, 40903451-40903459, 40903475, 40903630, 40909613-40909618, 40909627-40909630, 40909639-40909646, 40909668-40909671, 40909682-40909686, 40909703-40909706, 40909712-40909723, 40909728-40909759, 40909762-40909765, 40909769, 40913824 |
| 627 | TGFB1 | 19 | 0.91133844842285 | 104 | 1173 | 41837013-41837014, 41837019-41837028, 41837035-41837037, 41837048-41837058, 41837061-41837084, 41854232, 41854248-41854258, 41854285-41854291, 41858658, 41858697-41858706, 41858709, 41858714, 41858800, 41858805, 41858808-41858810, 41858914-41858918, 41858921, 41858928-41858938 |
| 628 | BCKDHA | 19 | 0.97384155455904 | 35 | 1338 | 41903748, 41903788-41903806, 41916553, 41916557-41916558, 41916561, 41916569, 41929012-41929013, 41930478-41930485 |
| 629 | ATP1A3 | 19 | 0.95622620989668 | 161 | 3678 | 42470787-42470817, 42470966, 42470971, 42470993-42470995, 42470999-42471004, 42471010, 42471018, 42471029-42471030, 42471046, 42471050, 42471109, 42471166-42471167, 42471177-42471181, 42471254, 42471314, 42471317-42471337, 42471341-42471344, 42471347, 42471355-42471363, 42471368-42471374, 42480568-42480603, 42480617, 42480621, 42480664-42480670, 42480713-42480718, 42489294, 42489333-42489334, 42490359, 42498223-42498228 |
| 630 | ETHE1 | 19 | 0.98562091503268 | 11 | 765 | 44011012, 44031268-44031269, 44031277-44031282, 44031289, 44031298 |
| 631 | BCAM | 19 | 0.95283518812931 | 89 | 1887 | 45312395-45312396, 45312399-45312407, 45312423, 45312427-45312435, 45314510-45314511, 45317454, 45321840, 45321849-45321853, 45321872, 45321878, 45322116, 45322419, 45322941-45322953, 45323974, 45323980-45323981, 45324031-45324050, 45324060-45324069, 45324075-45324079, 45324173, 45324176-45324178 |
| 632 | APOE | 19 | 0.62264150943396 | 360 | 954 | 45411061-45411063, 45411066-45411071, 45411077-45411078, 45411790-45411836, 45411865-45411911, 45411933-45411971, 45411982-45411984, 45412034-45412060, 45412072-45412183, 45412197-45412203, 45412208, 45412227-45412231, 45412233-45412249, 45412251-45412257, 45412260, 45412345-45412350, 45412360-45412368, 45412374, 45412467-45412471, 45412493-45412507 |
| 633 | BLOC1S3 | 19 | 0.48932676518883 | 311 | 609 | 45682575, 45682581-45682585, 45682595, 45682607-45682611, 45682758-45683011, 45683032, 45683046-45683047, 45683050-45683055, 45683060, 45683064-45683098 |
| 634 | ERCC2 | 19 | 0.96276828734122 | 85 | 2283 | 45856390-45856394, 45856397, 45856400, 45860610, 45867083-45867101, 45867112-45867115, 45867119-45867120, 45867295-45867322, 45867341-45867362, 45873484, 45873487 |
| 635 | OPA3 | 19 | 0.94106813996317 | 32 | 543 | 46032380-46032390, 46032394-46032401, 46032405-46032406, 46032412-46032418, 46032423-46032425, 46087936 |
| 636 | SIX5 | 19 | 0.72252252252252 | 616 | 2220 | 46268966-46268975, 46268982, 46269301, 46269686, 46269703, 46269716-46269750, 46270009-46270015, 46270147-46270167, 46270178-46270186, 46270215-46270216, 46270222, 46271410-46271440, 46271447-46271494, 46271535-46271541, 46271561-46271623, 46271687-46271689, 46271701-46271702, 46271708-46271719, 46271722-46271724, 46271726-46271728, 46271731, 46271749-46272102 |
| 637 | DMPK | 19 | 0.92116402116402 | 149 | 1890 | 46273776-46273777, 46273783-46273787, 46273794, 46274284-46274286, 46274289, 46274296, 46274305, 46274317, 46280769, 46281430-46281432, 46285470-46285475, 46285487-46285610 |
| 638 | FKRP | 19 | 0.53091397849462 | 698 | 1488 | 47258783-47258789, 47258814-47258839, 47259060-47259073, 47259077, 47259090-47259126, 47259130-47259132, 47259135-47259145, 47259150-47259157, 47259160, 47259169-47259177, 47259180-47259189, 47259229-47259541, 47259548-47259580, 47259593-47259708, 47259717-47259761, 47259775, 47259835-47259843, 47260044-47260089, 47260113-47260119, 47260166 |
| 639 | CRX | 19 | 0.96 | 36 | 900 | 48342627-48342653, 48342658, 48342662, 48342670, 48342789, 48342792-48342796 |
| 640 | DBP | 19 | 0.63394683026585 | 358 | 978 | 49134183-49134188, 49136879, 49138837-49139158, 49139170, 49139221-49139223, 49139228-49139230, 49139238-49139242, 49140190-49140204, 49140210, 49140213 |
| 641 | BCAT2 | 19 | 0.99830364715861 | 2 | 1179 | 49314249-49314250 |
| 642 | GYS1 | 19 | 0.99909665763324 | 2 | 2214 | 49473889, 49473915 |
| 643 | MED25 | 19 | 0.94786096256684 | 117 | 2244 | 50321616-50321620, 50321623, 50321626-50321632, 50333140, 50333146-50333148, 50333154-50333157, 50333442-50333445, 50333776-50333778, 50333781, 50333785, 50333793, 50334075-50334080, 50334083-50334084, 50334091-50334108, 50334111-50334112, 50334124-50334144, 50335404-50335406, 50338414-50338421, 50339193, 50339493, 50339504, 50339545, 50339548, 50339553, 50339557-50339558, 50340121, 50340124-50340125, 50340129-50340141, 50340148, 50340151 |
| 644 | PNKP | 19 | 0.92401021711367 | 119 | 1566 | 50364891-50364926, 50365029-50365044, 50365135, 50365348, 50365358-50365362, 50365632-50365640, 50365647-50365661, 50365831, 50365833-50365845, 50365849-50365854, 50365857, 50365860-50365861, 50365864, 50365961, 50365985-50365995 |
| 645 | MYH14 | 19 | 0.96187203403698 | 233 | 6111 | 50713623-50713692, 50713709-50713715, 50713895, 50714001, 50714014, 50714019, 50747510-50747517, 50747520, 50753869, 50762401-50762419, 50762436, 50762439, 50764746, 50764764-50764765, 50764787-50764814, 50764852-50764871, 50766581, 50766588, 50766592-50766594, 50770147, 50770211-50770213, 50770218-50770219, 50770222-50770228, 50770264-50770265, 50779409, 50780104-50780112, 50780137-50780145, 50780153, 50781442-50781444, 50785024-50785026, 50785036, 50785039, 50789902-50789906, 50789917-50789925, 50795558-50795564, 50796494 |
| 646 | KCNC3 | 19 | 0.53518029903254 | 1057 | 2274 | 50823503-50823606, 50823991, 50824010-50824013, 50824026, 50826276-50826277, 50826287, 50826290, 50826300, 50826343-50826377, 50826399, 50826404, 50826418, 50826421-50826422, 50826432, 50826439, 50826442-50826449, 50826459-50826468, 50826473-50826479, 50826498, 50826546-50826560, 50826564-50826565, 50826571, 50826645, 50826885, 50826903-50826910, 50831470-50831477, 50831481, 50831483-50831484, 50831489-50831490, 50831502-50832072, 50832078-50832339 |
| 647 | KLK4 | 19 | 0.93464052287582 | 50 | 765 | 51411857, 51412508, 51412519-51412524, 51412602, 51412607, 51412614-51412619, 51412624-51412629, 51412634-51412646, 51412652-51412666 |
| 648 | ETFB | 19 | 0.97502401536984 | 26 | 1041 | 51850194-51850207, 51856432-51856443 |
| 649 | NLRP12 | 19 | 0.98305084745763 | 54 | 3186 | 54297305-54297308, 54304518, 54312876, 54312878-54312883, 54312893, 54312897, 54313093, 54313206, 54313341-54313348, 54313645-54313649, 54313660-54313667, 54313851, 54314083-54314090, 54314098, 54314380-54314381, 54314389, 54314436-54314439 |
| 650 | PRKCG | 19 | 0.87058261700096 | 271 | 2094 | 54385749-54385782, 54385788, 54385791-54385798, 54385802, 54385808-54385820, 54385829-54385835, 54385838-54385848, 54385858, 54385876, 54385884, 54387484-54387485, 54387488-54387491, 54392893, 54392899, 54392904-54392907, 54392931-54392966, 54392972-54392983, 54393140-54393271, 54410071 |
| 651 | PRPF31 | 19 | 0.988 | 18 | 1500 | 54627880-54627881, 54629921, 54631549-54631563 |
| 652 | TSEN34 | 19 | 0.80707395498392 | 180 | 933 | 54695216-54695293, 54695306, 54695310-54695314, 54695317, 54695326-54695351, 54695354-54695356, 54695360-54695362, 54695375-54695381, 54695385, 54695396-54695440, 54696066-54696068, 54696071, 54696074, 54696080, 54696083-54696085, 54696097 |
| 653 | NLRP7 | 19 | 0.99229287090559 | 24 | 3114 | 55450767, 55450950-55450956, 55450959, 55451050, 55451167-55451173, 55453058-55453064 |
| 654 | TNNT1 | 19 | 0.89733840304183 | 81 | 789 | 55648479, 55648565-55648580, 55652266-55652273, 55652296-55652328, 55656917, 55657810-55657818, 55657830, 55657834, 55658052-55658057, 55658063-55658067 |
| 655 | TNNI3 | 19 | 0.97701149425287 | 14 | 609 | 55667585, 55667601-55667605, 55667614, 55667631-55667633, 55667688-55667691 |
| 656 | AURKC | 19 | 0.99247311827957 | 7 | 930 | 57742641-57742647 |
| 657 | TPO | 2 | 0.87972876516774 | 337 | 2802 | 1480866-1480867, 1480872-1480882, 1480902-1480921, 1480942-1480961, 1480964-1480965, 1480972-1480987, 1480998-1481004, 1481033-1481082, 1481088-1481106, 1481114-1481125, 1481132-1481141, 1481158-1481159, 1481164-1481175, 1481185-1481190, 1481196, 1481200, 1481213-1481274, 1481285, 1481291-1481293, 1481314-1481354, 1481369-1481376, 1488411-1488430, 1520710-1520720 |
| 658 | RPS7 | 2 | 0.88034188034188 | 70 | 585 | 3623205-3623274 |
| 659 | KLF11 | 2 | 0.97141000649773 | 44 | 1539 | 10183844-10183885, 10188461, 10188529 |
| 660 | LPIN1 | 2 | 0.996632996633 | 9 | 2673 | 11955323-11955330, 11955345 |
| 661 | MYCN | 2 | 0.70465949820789 | 412 | 1395 | 16082322, 16082377-16082404, 16082440-16082445, 16082559-16082935 |
| 662 | MATN3 | 2 | 0.85010266940452 | 219 | 1461 | 20212174-20212392 |
| 663 | APOB | 2 | 0.99225825299445 | 106 | 13692 | 21255269-21255291, 21265270, 21266736-21266817 |
| 664 | POMC | 2 | 0.66915422885572 | 266 | 804 | 25384127-25384162, 25384207-25384253, 25384354-25384364, 25384392-25384398, 25384404-25384531, 25384585-25384621 |
| 665 | HADHB | 2 | 0.98947368421053 | 15 | 1425 | 26486327-26486328, 26507771-26507772, 26507817-26507825, 26508341, 26508344 |
| 666 | OTOF | 2 | 0.95045045045045 | 297 | 5994 | 26695387-26695394, 26696968, 26697381-26697433, 26697442-26697459, 26697490-26697493, 26697496, 26697527-26697535, 26699100, 26699138-26699139, 26699759-26699911, 26700042, 26700045, 26700053-26700056, 26700063, 26700105-26700106, 26700109, 26700114-26700144, 26702468-26702473 |
| 667 | EIF2B4 | 2 | 0.9969362745098 | 5 | 1632 | 27592858-27592861, 27592864 |
| 668 | C2orf71 | 2 | 0.98319110421515 | 65 | 3867 | 29287933, 29293616-29293645, 29293652-29293669, 29293920-29293929, 29294059-29294060, 29294103, 29296531-29296533 |
| 669 | ALK | 2 | 0.94838577010076 | 251 | 4863 | 29419636-29419668, 29451755-29451792, 29754864, 29754870, 29754888, 29754893-29754899, 29754908-29754913, 30143233-30143278, 30143308-30143314, 30143382-30143431, 30143441-30143490, 30143501-30143511 |
| 670 | XDH | 2 | 0.99950024987506 | 2 | 4002 | 31560602, 31572976 |
| 671 | SRD5A2 | 2 | 0.99212598425197 | 6 | 762 | 31805839, 31805879-31805880, 31805883-31805885 |
| 672 | SPAST | 2 | 0.79956780118855 | 371 | 1851 | 32288902, 32288945-32288951, 32288959-32288962, 32288972, 32288975, 32288994-32289315, 32341207-32341236, 32341241, 32362217, 32379500-32379501, 32379503 |
| 673 | CYP1B1 | 2 | 0.83946078431373 | 262 | 1632 | 38301489, 38301513, 38301679, 38301769-38301775, 38301852-38301858, 38301868, 38301878-38301889, 38301963-38301977, 38301985, 38301993, 38301998-38302003, 38302013-38302018, 38302023-38302025, 38302029-38302035, 38302039-38302045, 38302055-38302071, 38302082-38302104, 38302127, 38302141-38302157, 38302164-38302173, 38302177, 38302197-38302199, 38302208-38302209, 38302212-38302213, 38302219-38302225, 38302231-38302235, 38302291-38302300, 38302321, 38302324, 38302337-38302338, 38302361-38302398, 38302406-38302451 |
| 674 | SOS1 | 2 | 0.99250374812594 | 30 | 4002 | 39222434, 39239344-39239348, 39239357-39239362, 39283993-39283995, 39347542-39347545, 39347550-39347560 |
| 675 | ABCG5 | 2 | 0.9739263803681 | 51 | 1956 | 44055148, 44058929-44058942, 44058947-44058956, 44058966-44058971, 44058978-44058982, 44059165-44059168, 44059194-44059204 |
| 676 | ABCG8 | 2 | 0.99604352126607 | 8 | 2022 | 44079621-44079625, 44102367-44102369 |
| 677 | LRPPRC | 2 | 0.98016726403823 | 83 | 4185 | 44128618, 44145164-44145176, 44161353-44161360, 44203293-44203294, 44207056, 44222942, 44222946-44222948, 44222955-44222957, 44222989, 44223009-44223048, 44223069-44223078 |
| 678 | SLC3A1 | 2 | 0.99902818270165 | 2 | 2058 | 44507996, 44547338 |
| 679 | SIX3 | 2 | 0.75775775775776 | 242 | 999 | 45169244-45169268, 45169280, 45169300-45169399, 45169422-45169442, 45169445-45169450, 45169521-45169528, 45169531, 45169534, 45169540-45169545, 45169567, 45169572-45169575, 45169588-45169591, 45169624, 45169636, 45169641, 45169649, 45169653, 45169673-45169680, 45170033, 45171749-45171757, 45171771-45171774, 45171781-45171782, 45171785-45171791, 45171802-45171803, 45171826-45171838, 45171842, 45171844, 45171868-45171878 |
| 680 | EPCAM | 2 | 0.99047619047619 | 9 | 945 | 47596653, 47596656-47596658, 47596666, 47596687-47596688, 47601097-47601098 |
| 681 | MSH2 | 2 | 0.98930481283422 | 30 | 2805 | 47639583-47639587, 47639645-47639655, 47641481-47641487, 47693891-47693897 |
| 682 | MSH6 | 2 | 0.93607641440118 | 261 | 4083 | 48010373-48010632, 48032757 |
| 683 | LHCGR | 2 | 0.95428571428571 | 96 | 2100 | 48982650-48982686, 48982733-48982788, 48982806, 48982809-48982810 |
| 684 | NRXN1 | 2 | 0.94689265536723 | 235 | 4425 | 50149144-50149147, 50149305, 50280432, 50758479, 50765553-50765554, 50765565, 50765571, 51254657-51254659, 51254667, 51254691, 51254706-51254707, 51254751-51254757, 51254793-51254801, 51254896-51254902, 51254911-51254952, 51255043-51255074, 51255083-51255131, 51255147-51255158, 51255222-51255233, 51255252-51255256, 51255264-51255267, 51255278-51255293, 51255343-51255344, 51255350-51255352, 51255356, 51255359-51255367, 51255388-51255391, 51255398, 51255403, 51255406 |
| 685 | EFEMP1 | 2 | 0.97705802968961 | 34 | 1482 | 56094250-56094251, 56094255-56094263, 56094273-56094274, 56094282, 56102125, 56102128-56102129, 56103758-56103766, 56103790-56103796, 56144945 |
| 686 | FANCL | 2 | 0.99113475177305 | 10 | 1128 | 58390196-58390197, 58390200, 58392891-58392897 |
| 687 | ATP6V1B1 | 2 | 0.99221789883268 | 12 | 1542 | 71163097-71163101, 71163105-71163110, 71190384 |
| 688 | MCEE | 2 | 0.99058380414313 | 5 | 531 | 71337100-71337104 |
| 689 | DYSF | 2 | 0.99622641509434 | 24 | 6360 | 71693973-71693983, 71694004-71694007, 71694012-71694015, 71801441-71801444, 71894577 |
| 690 | SPR | 2 | 0.61832061068702 | 300 | 786 | 73114562-73114861 |
| 691 | ALMS1 | 2 | 0.99144273832374 | 107 | 12504 | 73613023-73613032, 73613035, 73613037-73613046, 73613049, 73613052-73613071, 73613074, 73613082-73613083, 73613086-73613099, 73613110-73613115, 73613276-73613281, 73651699-73651718, 73676492, 73679729-73679732, 73746944, 73786122-73786123, 73786131, 73828339-73828345 |
| 692 | DGUOK | 2 | 0.99880095923261 | 1 | 834 | 74166130 |
| 693 | SLC4A5 | 2 | 0.99677797305214 | 11 | 3414 | 74479384, 74480113, 74489323, 74513014-74513021 |
| 694 | DCTN1 | 2 | 0.99087829033099 | 35 | 3837 | 74590479, 74590511-74590520, 74590529-74590535, 74593669, 74595120-74595121, 74595159, 74598129, 74598131-74598135, 74598763, 74598765-74598766, 74598790-74598792, 74605372 |
| 695 | MOGS | 2 | 0.97494033412888 | 63 | 2514 | 74688451, 74689086, 74690043, 74692126-74692132, 74692135-74692136, 74692143-74692148, 74692157, 74692191-74692192, 74692256-74692258, 74692261-74692263, 74692295, 74692299-74692305, 74692331-74692336, 74692349-74692353, 74692357-74692373 |
| 696 | HTRA2 | 2 | 0.88307915758896 | 161 | 1377 | 74757139-74757147, 74757158-74757192, 74757230-74757232, 74757240, 74757267, 74757272, 74757275, 74757306, 74757309, 74757348, 74757351-74757352, 74757355-74757367, 74757370-74757371, 74757376-74757388, 74757397-74757421, 74757431-74757479, 74757547-74757548, 74757568 |
| 697 | SUCLG1 | 2 | 0.98270893371758 | 18 | 1041 | 84660499, 84668423, 84668430, 84668437-84668440, 84670459, 84686314, 84686318-84686320, 84686324-84686325, 84686329, 84686335-84686337 |
| 698 | GGCX | 2 | 0.97716293368467 | 52 | 2277 | 85778710, 85780557-85780558, 85781396-85781397, 85781404, 85781416-85781424, 85783376-85783377, 85785672, 85788518-85788551 |
| 699 | SFTPB | 2 | 0.9869109947644 | 15 | 1146 | 85889190, 85890530, 85892790-85892793, 85895262, 85895268-85895272, 85895277-85895278, 85895287 |
| 700 | REEP1 | 2 | 0.94719471947195 | 32 | 606 | 86564602-86564633 |
| 701 | EIF2AK3 | 2 | 0.92599224112205 | 248 | 3351 | 88926485-88926514, 88926541-88926575, 88926582-88926713, 88926721-88926770, 88926792 |
| 702 | RPIA | 2 | 0.98076923076923 | 18 | 936 | 88991268-88991270, 88991277-88991287, 88991290-88991292, 88991295 |
| 703 | TMEM127 | 2 | 0.86889818688982 | 94 | 717 | 96930893, 96930913-96930935, 96930973-96930975, 96930981-96930985, 96930988-96930993, 96930996-96931001, 96931012-96931013, 96931040-96931041, 96931047-96931056, 96931084-96931119 |
| 704 | SNRNP200 | 2 | 0.99890812665731 | 7 | 6411 | 96950245, 96950977, 96950984, 96955047-96955048, 96967352, 96967356 |
| 705 | ZAP70 | 2 | 0.93763440860215 | 116 | 1860 | 98340608, 98340635, 98340722-98340725, 98340747-98340793, 98340814-98340857, 98340870, 98340873-98340875, 98341659-98341662, 98349666-98349675, 98349763 |
| 706 | RANBP2 | 2 | 0.98025839793282 | 191 | 9675 | 109336063, 109336069-109336077, 109336084, 109336089-109336091, 109336111-109336113, 109336117, 109345588-109345589, 109352606-109352636, 109357110-109357116, 109363192-109363194, 109363200, 109363214, 109363227, 109363232-109363233, 109367984-109367989, 109368074-109368110, 109369454-109369469, 109371714, 109378557, 109378581, 109378622-109378624, 109378630, 109382787-109382793, 109383268-109383274, 109383315-109383321, 109383971-109383998, 109384628-109384634, 109388261, 109399087, 109399236 |
| 707 | NPHP1 | 2 | 0.98574237954769 | 29 | 2034 | 110917732-110917737, 110917743-110917753, 110922638-110922640, 110922653, 110922661, 110936034-110936040 |
| 708 | MERTK | 2 | 0.97066666666667 | 88 | 3000 | 112656313-112656373, 112740491-112740492, 112740495-112740505, 112740509-112740520, 112740523, 112786439 |
| 709 | PAX8 | 2 | 0.97856614929786 | 29 | 1353 | 113999219-113999224, 113999247-113999269 |
| 710 | GLI2 | 2 | 0.80487292585591 | 929 | 4761 | 121555009-121555044, 121708998, 121709013, 121712922-121712960, 121713001-121713005, 121726296, 121726304, 121726307, 121726447, 121726486, 121728025-121728026, 121728090-121728104, 121728126-121728154, 121728161-121728182, 121729591-121729634, 121745789, 121745815-121745822, 121745833-121745852, 121745856, 121745863, 121745874-121745884, 121745903, 121745910, 121745913-121745915, 121745970, 121745988-121745995, 121746013-121746563, 121746607, 121746630-121746637, 121746653-121746656, 121746698-121746721, 121746770, 121746793-121746836, 121747051-121747056, 121747164-121747171, 121747184-121747185, 121747323-121747329, 121747429, 121747660-121747663, 121747668-121747673, 121747687-121747693 |
| 711 | BIN1 | 2 | 0.98989898989899 | 18 | 1782 | 127808394, 127808401, 127808415, 127808767-127808770, 127808773, 127808776, 127808781, 127808795, 127808805, 127809889, 127816632, 127816638-127816640, 127834203 |
| 712 | PROC | 2 | 0.87518037518038 | 173 | 1386 | 128178935-128178940, 128180493-128180517, 128180610-128180745, 128180925-128180926, 128180962, 128183792, 128183797, 128186172 |
| 713 | CFC1 | 2 | 0.75892857142857 | 162 | 672 | 131279062-131279065, 131279648, 131279673, 131280363-131280477, 131280777, 131280781, 131280784, 131280809-131280834, 131285310-131285319, 131285322, 131285428 |
| 714 | RAB3GAP1 | 2 | 0.99626612355737 | 11 | 2946 | 135815595, 135878464, 135887585, 135922173-135922180 |
| 715 | LCT | 2 | 0.99930843706777 | 4 | 5784 | 136558243, 136562357, 136562362, 136594649 |
| 716 | MCM6 | 2 | 0.98053527980535 | 48 | 2466 | 136615468-136615469, 136616920-136616957, 136616964, 136633886-136633889, 136633903-136633905 |
| 717 | ZEB2 | 2 | 0.97997256515775 | 73 | 3645 | 145274845-145274917 |
| 718 | MMADHC | 2 | 0.99551066217733 | 4 | 891 | 150436093-150436094, 150436097, 150438687 |
| 719 | NEB | 2 | 0.99734655051567 | 53 | 19974 | 152387533, 152417761-152417762, 152421558, 152432743-152432744, 152432794-152432812, 152432827-152432829, 152432845-152432850, 152432854-152432855, 152470903-152470905, 152512957, 152563421-152563425, 152582067-152582074 |
| 720 | CACNB4 | 2 | 0.9532949456174 | 73 | 1563 | 152698474-152698477, 152698527-152698531, 152732991, 152955463-152955525 |
| 721 | ACVR1 | 2 | 0.99477124183007 | 8 | 1530 | 158636914, 158636923-158636929 |
| 722 | SCN2A | 2 | 0.98438019275507 | 94 | 6018 | 166170575, 166170579, 166171981-166172011, 166198821-166198827, 166211135-166211174, 166221714, 166223848-166223849, 166234115, 166237618, 166237621-166237622, 166237644-166237648, 166237671-166237672 |
| 723 | GALNT3 | 2 | 0.99737118822292 | 5 | 1902 | 166621432, 166621447-166621450 |
| 724 | SCN1A | 2 | 0.99666499916625 | 20 | 5997 | 166866314-166866316, 166866321-166866323, 166901785, 166903303, 166915126-166915137 |
| 725 | SCN9A | 2 | 0.99747219413549 | 15 | 5934 | 167060973-167060974, 167083169, 167083178, 167083197, 167089916, 167089945-167089948, 167134756, 167134776, 167145142, 167168086, 167168093 |
| 726 | SLC25A12 | 2 | 0.99312714776632 | 14 | 2037 | 172671699-172671701, 172750713-172750715, 172750717-172750724 |
| 727 | ITGA6 | 2 | 0.94444444444444 | 182 | 3276 | 173292517-173292698 |
| 728 | CHRNA1 | 2 | 0.99854439592431 | 2 | 1374 | 175618393, 175618396 |
| 729 | CHN1 | 2 | 0.99347826086957 | 9 | 1380 | 175689225, 175869623-175869627, 175869638-175869640 |
| 730 | HOXD13 | 2 | 0.73352713178295 | 275 | 1032 | 176957619-176957841, 176957858-176957868, 176957876, 176957879-176957880, 176957891-176957909, 176957920, 176957961-176957971, 176957977, 176957980, 176957984, 176957987-176957989, 176958149 |
| 731 | AGPS | 2 | 0.94790085988872 | 103 | 1977 | 178257528-178257537, 178257561-178257564, 178257602-178257607, 178257610-178257613, 178257617-178257627, 178257640-178257643, 178257705-178257708, 178257716-178257717, 178257721, 178257725-178257729, 178257733-178257734, 178257737-178257740, 178257744-178257747, 178257752-178257754, 178346831-178346851, 178362438-178362440, 178362445-178362447, 178362478-178362483, 178362490, 178364346, 178364349-178364352 |
| 732 | PRKRA | 2 | 0.92144373673036 | 74 | 942 | 179312263-179312271, 179315693-179315757 |
| 733 | TTN | 2 | 0.99855358710398 | 145 | 100248 | 179392339, 179392342-179392347, 179392354, 179404338, 179404341, 179412742-179412746, 179416410, 179418658, 179419441-179419444, 179422666-179422667, 179425481-179425482, 179434375, 179434389-179434394, 179434406, 179437163-179437166, 179446827-179446829, 179446845, 179446850-179446856, 179447804, 179447817, 179464015-179464017, 179466797, 179468900-179468902, 179471917-179471919, 179499108-179499109, 179502106, 179502129, 179514898-179514905, 179516429, 179517222, 179538383-179538390, 179543150, 179565848, 179575878, 179585675, 179597396, 179633493-179633494, 179634440, 179639658-179639664, 179643637-179643672, 179648803, 179656833, 179659663, 179659677, 179659680-179659686, 179659857 |
| 734 | CERKL | 2 | 0.99249530956848 | 12 | 1599 | 182409467-182409468, 182430841, 182521513, 182521602, 182521607, 182521612, 182521615-182521618, 182521668 |
| 735 | COL3A1 | 2 | 0.97341513292434 | 117 | 4401 | 189849934, 189849937, 189850459-189850462, 189853339, 189853342, 189854135-189854164, 189858999-189859003, 189859009-189859010, 189859524-189859526, 189860448, 189860460-189860462, 189860465, 189860499, 189860851-189860875, 189861200, 189861210, 189867765, 189871136-189871142, 189871663-189871681, 189872613, 189872616-189872617, 189872623-189872627, 189872632 |
| 736 | COL5A2 | 2 | 0.97111111111111 | 130 | 4500 | 189906408-189906415, 189909948-189909952, 189910540-189910544, 189910572-189910578, 189910608-189910611, 189914122, 189915376, 189916095-189916107, 189916156-189916194, 189916921-189916927, 189925480, 189929311-189929314, 189932775-189932803, 189932952-189932956, 189933577 |
| 737 | SLC40A1 | 2 | 0.99941724941725 | 1 | 1716 | 190426719 |
| 738 | PMS1 | 2 | 0.99285459092533 | 20 | 2799 | 190670397-190670404, 190718752, 190718782, 190719086, 190719110, 190719637, 190728722, 190728728-190728730, 190732562, 190732568-190732569 |
| 739 | STAT1 | 2 | 0.99067909454061 | 21 | 2253 | 191841740-191841741, 191843651-191843652, 191859787, 191859799, 191859893-191859901, 191859908-191859913 |
| 740 | HSPD1 | 2 | 0.97502903600465 | 43 | 1722 | 198351801-198351843 |
| 741 | CASP8 | 2 | 0.99257884972171 | 12 | 1617 | 202131205-202131207, 202149625-202149627, 202149653-202149657, 202149664 |
| 742 | ALS2 | 2 | 0.99396863691194 | 30 | 4974 | 202574733-202574745, 202589099-202589105, 202614486-202614492, 202626390-202626392 |
| 743 | BMPR2 | 2 | 0.99615014436959 | 12 | 3117 | 203332254-203332257, 203332339, 203379661, 203407124, 203424597-203424601 |
| 744 | ICOS | 2 | 0.99833333333333 | 1 | 600 | 204820453 |
| 745 | NDUFS1 | 2 | 0.99679487179487 | 7 | 2184 | 206992589-206992592, 207017209-207017211 |
| 746 | FASTKD2 | 2 | 0.99109235818097 | 19 | 2133 | 207652746-207652747, 207652749-207652752, 207652755-207652763, 207652810-207652811, 207652814, 207652869 |
| 747 | ACADL | 2 | 0.9922660479505 | 10 | 1293 | 211089911, 211089925-211089928, 211089931-211089935 |
| 748 | CPS1 | 2 | 0.99844548079058 | 7 | 4503 | 211456649, 211456651-211456652, 211459323, 211504782-211504783, 211507223 |
| 749 | ABCA12 | 2 | 0.99165382639959 | 65 | 7788 | 215797419-215797427, 215798870-215798876, 215798879, 215798889-215798895, 215812245, 215840543-215840555, 215843075, 215848559-215848566, 215851288-215851290, 215854180-215854184, 215854340, 215880338-215880344, 215884330, 215901742 |
| 750 | SMARCAL1 | 2 | 0.99057591623037 | 27 | 2865 | 217297474, 217315612-217315618, 217315633, 217329366-217329368, 217340078, 217347550-217347557, 217347564-217347569 |
| 751 | PNKD | 2 | 0.98963730569948 | 12 | 1158 | 219204553-219204555, 219204563-219204571 |
| 752 | BCS1L | 2 | 0.99365079365079 | 8 | 1260 | 219527278, 219527282, 219527290, 219527293, 219527322-219527325 |
| 753 | CYP27A1 | 2 | 0.98997493734336 | 16 | 1596 | 219646966-219646972, 219647060, 219647108-219647114, 219679740 |
| 754 | WNT10A | 2 | 0.75358851674641 | 309 | 1254 | 219745720-219745724, 219745740-219745767, 219745771-219745773, 219745783, 219745787-219745795, 219745799-219745800, 219745804-219745825, 219757511-219757549, 219757555-219757569, 219757578-219757584, 219757594, 219757597-219757599, 219757605, 219757614-219757616, 219757619, 219757623-219757631, 219757660-219757743, 219757752-219757789, 219757839-219757843, 219757845, 219757857-219757860, 219757866-219757882, 219757897-219757907 |
| 755 | DES | 2 | 0.7721160651097 | 322 | 1413 | 220283185-220283189, 220283195-220283460, 220283569-220283599, 220283620, 220283646, 220283651, 220283662, 220283674, 220283703, 220283707-220283717, 220283724, 220283735, 220283738 |
| 756 | OBSL1 | 2 | 0.80249516780882 | 1124 | 5691 | 220416266-220416271, 220416277-220416323, 220416332-220416340, 220416348-220416349, 220416352, 220416386, 220416396-220416467, 220416482-220416499, 220416834, 220416837, 220416864-220416867, 220416872-220416873, 220417258-220417419, 220417593, 220417598, 220417602-220417623, 220417627, 220417634-220417655, 220417674, 220417683, 220417715, 220417718, 220420950, 220421434-220421435, 220423016, 220432921-220432927, 220434974-220434977, 220434980-220434989, 220434999, 220435004-220435005, 220435007, 220435069-220435073, 220435081-220435084, 220435105, 220435247-220435954 |
| 757 | PAX3 | 2 | 0.99209486166008 | 12 | 1518 | 223096932, 223161889, 223163261-223163270 |
| 758 | COL4A4 | 2 | 0.99624802527646 | 19 | 5064 | 227872849-227872850, 227886801-227886809, 227886815, 227920722-227920725, 227942652, 227942679-227942680 |
| 759 | COL4A3 | 2 | 0.97267105525633 | 137 | 5013 | 228029451-228029471, 228029481-228029497, 228029501, 228029507, 228029510, 228102698, 228102702-228102708, 228102711-228102713, 228128583, 228137719, 228137722-228137724, 228142248-228142269, 228147142, 228153924-228153955, 228153963-228153964, 228163438-228163446, 228163461-228163464, 228163474, 228163483, 228163487, 228163512-228163518 |
| 760 | CHRND | 2 | 0.99099099099099 | 14 | 1554 | 233390934, 233394702, 233398682, 233398685-233398691, 233398702-233398705 |
| 761 | CHRNG | 2 | 0.98262548262548 | 27 | 1554 | 233407653, 233409245-233409257, 233409267-233409270, 233409277, 233409533-233409537, 233409592, 233409595-233409596 |
| 762 | UGT1A1 | 2 | 0.97940074906367 | 33 | 1602 | 234668950-234668954, 234668957-234668959, 234668963-234668970, 234668975, 234668981-234668983, 234669075-234669087 |
| 763 | COL6A3 | 2 | 0.98982588630166 | 97 | 9534 | 238244864-238244868, 238244877-238244878, 238244888-238244894, 238244963, 238244967, 238249095-238249101, 238249108, 238249717, 238250795, 238274422-238274428, 238277223, 238280474-238280477, 238280485, 238283089-238283094, 238283103-238283110, 238283113, 238283427-238283436, 238283444-238283457, 238287527, 238287538-238287554, 238287566 |
| 764 | AGXT | 2 | 0.94826123833757 | 61 | 1179 | 241808343-241808370, 241816968-241817000 |
| 765 | D2HGDH | 2 | 0.77777777777778 | 348 | 1566 | 242674640-242674654, 242674662-242674666, 242674670-242674677, 242674687-242674689, 242674695-242674698, 242674710-242674792, 242674800-242674806, 242674843-242674871, 242674924-242674925, 242674928, 242689578-242689596, 242707164-242707186, 242707193-242707240, 242707259, 242707262, 242707286-242707384 |
| 766 | C20orf54 | 20 | 0.99716312056738 | 4 | 1410 | 741717, 744345-744346, 745977 |
| 767 | AVP | 20 | 0.24242424242424 | 375 | 495 | 3063276-3063448, 3063623-3063824 |
| 768 | PANK2 | 20 | 0.75539988324577 | 419 | 1713 | 3869792, 3869865-3869913, 3869919-3870040, 3870064, 3870069-3870110, 3870128-3870140, 3870155-3870158, 3870179-3870323, 3870342-3870375, 3888609-3888616 |
| 769 | FERMT1 | 20 | 0.992133726647 | 16 | 2034 | 6088207-6088211, 6088219-6088220, 6088226-6088233, 6100145 |
| 770 | JAG1 | 20 | 0.96992070002734 | 110 | 3657 | 10639301, 10653561-10653567, 10653587-10653601, 10653609-10653614, 10654098-10654178 |
| 771 | C20orf7 | 20 | 0.98651252408478 | 14 | 1038 | 13782172, 13782240, 13782269-13782280 |
| 772 | THBD | 20 | 0.68171296296296 | 550 | 1728 | 23028978, 23029127, 23029188, 23029201-23029204, 23029274-23029323, 23029329, 23029332-23029336, 23029385, 23029388-23029389, 23029392-23029393, 23029403-23029415, 23029419, 23029443-23029491, 23029497-23029775, 23029785, 23029795, 23029810-23029866, 23029874-23029883, 23029901-23029912, 23029955, 23029961, 23029964-23029976, 23030015-23030018, 23030024-23030032, 23030045-23030055, 23030060, 23030106-23030124 |
| 773 | SNTA1 | 20 | 0.82542819499341 | 265 | 1518 | 32031145-32031148, 32031166-32031426 |
| 774 | GSS | 20 | 0.99859649122807 | 2 | 1425 | 33533850-33533851 |
| 775 | GDF5 | 20 | 0.95683930942895 | 65 | 1506 | 34022381-34022417, 34022431-34022437, 34025115-34025118, 34025126, 34025132-34025133, 34025138, 34025272-34025284 |
| 776 | SAMHD1 | 20 | 0.97873471557682 | 40 | 1881 | 35545163, 35547884-35547886, 35579852-35579879, 35579883, 35579902-35579906, 35579959, 35579966 |
| 777 | HNF4A | 20 | 0.99789473684211 | 3 | 1425 | 43043283, 43043286, 43052777 |
| 778 | ADA | 20 | 0.96153846153846 | 42 | 1092 | 43257768-43257776, 43280216-43280248 |
| 779 | CTSA | 20 | 0.98864395457582 | 17 | 1497 | 44520217, 44520236-44520240, 44520249-44520258, 44523642 |
| 780 | SLC2A10 | 20 | 0.99323493234932 | 11 | 1626 | 45338376-45338379, 45354882, 45354885-45354886, 45354891-45354894 |
| 781 | SALL4 | 20 | 0.97501581277672 | 79 | 3162 | 50407692, 50408352-50408356, 50408359, 50418818-50418845, 50418852-50418895 |
| 782 | PCK1 | 20 | 0.9983948635634 | 3 | 1869 | 56137876-56137878 |
| 783 | VAPB | 20 | 0.90846994535519 | 67 | 732 | 56964516-56964573, 57014071-57014079 |
| 784 | STX16 | 20 | 0.98977505112474 | 10 | 978 | 57244451-57244456, 57244459, 57246232, 57246235-57246236 |
| 785 | GNAS | 20 | 0.9810298102981 | 14 | 738 | 57415323-57415330, 57415344, 57415688-57415691, 57415694 |
| 786 | GNAS | 20 | 0.88278741168915 | 365 | 3114 | 57428958, 57429085-57429086, 57429094, 57429273, 57429334, 57429394-57429398, 57429401-57429402, 57429409-57429416, 57429425-57429426, 57429430, 57429464-57429502, 57429614-57429658, 57429673-57429698, 57429703-57429704, 57429717-57429795, 57429814-57429840, 57429854, 57429856-57429861, 57429948-57429956, 57429972, 57429980-57429986, 57429997, 57429999, 57430004-57430006, 57430049-57430060, 57430071-57430119, 57430143-57430152, 57430161, 57430167-57430172, 57430174, 57430185, 57430251-57430256, 57430285-57430286, 57430328-57430331, 57430362, 57430375 |
| 787 | COL9A3 | 20 | 0.92652068126521 | 151 | 2055 | 61448417-61448494, 61448938-61448943, 61448949-61448965, 61448968, 61448978-61448981, 61453965-61453967, 61456327-61456354, 61461713, 61468477, 61468558-61468560, 61468569-61468571, 61468604-61468608, 61471949 |
| 788 | CHRNA4 | 20 | 0.92515923566879 | 141 | 1884 | 61978139-61978140, 61981172, 61981227, 61981275, 61981318, 61981321, 61981326-61981334, 61981385, 61981452-61981453, 61981536, 61981540, 61981569, 61981578, 61981916-61981949, 61982236-61982247, 61987420, 61992442-61992512 |
| 789 | KCNQ2 | 20 | 0.82168766704849 | 467 | 2619 | 62037997-62038012, 62038015, 62038055, 62038156, 62038162-62038164, 62038271-62038280, 62038283, 62038288, 62038314, 62038330-62038351, 62038412-62038413, 62038416-62038417, 62038421, 62038535-62038572, 62038588-62038621, 62038728, 62046277-62046283, 62046383, 62046421-62046427, 62059771, 62059774-62059776, 62073762-62073763, 62073766-62073771, 62076661-62076665, 62078187-62078190, 62103521-62103816 |
| 790 | SOX18 | 20 | 0.063203463203463 | 1082 | 1155 | 62679519-62679523, 62679535-62679569, 62679580-62679624, 62679630-62679672, 62679712, 62679721-62680315, 62680512-62680869 |
| 791 | APP | 21 | 0.96714223951578 | 76 | 2313 | 27253981, 27264034-27264050, 27284162, 27394178-27394179, 27484449-27484463, 27542883-27542887, 27542890-27542917, 27542928-27542934 |
| 792 | BACH1 | 21 | 0.99954771596563 | 1 | 2211 | 30715041 |
| 793 | SOD1 | 21 | 0.87741935483871 | 57 | 465 | 33032083-33032093, 33032103-33032142, 33039596, 33039602-33039606 |
| 794 | IFNGR2 | 21 | 0.92800788954635 | 73 | 1014 | 34775850-34775922 |
| 795 | KCNE2 | 21 | 0.99731182795699 | 1 | 372 | 35742835 |
| 796 | KCNE1 | 21 | 0.9974358974359 | 1 | 390 | 35821827 |
| 797 | RCAN1 | 21 | 0.66139657444005 | 257 | 759 | 35895898-35895902, 35987059-35987310 |
| 798 | RUNX1 | 21 | 0.82605682605683 | 251 | 1443 | 36164432-36164477, 36164509, 36164546-36164558, 36164575-36164613, 36164693-36164711, 36259186-36259219, 36259225-36259229, 36259239-36259242, 36259245, 36259274, 36259302-36259306, 36259311-36259393 |
| 799 | CLDN14 | 21 | 0.98888888888889 | 8 | 720 | 37833280-37833281, 37833292, 37833307, 37833818-37833821 |
| 800 | HLCS | 21 | 0.99862448418157 | 3 | 2181 | 38308831, 38308841-38308842 |
| 801 | CBS | 21 | 0.9987922705314 | 2 | 1656 | 44492251-44492252 |
| 802 | CSTB | 21 | 0.77777777777778 | 66 | 297 | 45196085-45196150 |
| 803 | AIRE | 21 | 0.83638583638584 | 268 | 1638 | 45705890-45706021, 45706450-45706451, 45706977-45706981, 45706999, 45712884, 45712890, 45712963-45712964, 45712968-45712979, 45712990-45713002, 45713005-45713019, 45713024, 45713033-45713058, 45713726, 45713786-45713789, 45714284-45714297, 45714337-45714349, 45714353, 45714356-45714379 |
| 804 | ITGB2 | 21 | 0.92640692640693 | 170 | 2310 | 46308608-46308739, 46308745-46308764, 46308788-46308792, 46308806-46308810, 46320359-46320365, 46321412 |
| 805 | COL18A1 | 21 | 0.92022792022792 | 420 | 5265 | 46875472-46875476, 46875479, 46875487-46875497, 46876196-46876227, 46876303, 46876306, 46876474, 46876552-46876557, 46876560-46876562, 46876570, 46876580, 46876645-46876665, 46876673-46876719, 46876728-46876735, 46888213-46888216, 46888234-46888238, 46888328-46888335, 46888389-46888392, 46888413, 46888652-46888655, 46888667-46888671, 46900769, 46906777, 46906817-46906840, 46911224, 46913483, 46913487-46913489, 46923961-46923968, 46925159-46925162, 46925286-46925294, 46925336-46925345, 46925759-46925760, 46925872, 46929310-46929315, 46929432-46929437, 46929441-46929450, 46929467, 46929494, 46929990, 46930014-46930039, 46930057-46930066, 46930070-46930080, 46930101-46930175, 46931040-46931046, 46931061-46931091 |
| 806 | COL6A1 | 21 | 0.93909944930353 | 188 | 3087 | 47401768, 47401772, 47401783-47401794, 47401799-47401811, 47401817, 47401828-47401832, 47401837-47401839, 47407539-47407548, 47407551, 47410172-47410188, 47410196-47410198, 47419592-47419606, 47420247, 47420673-47420678, 47422200, 47422545-47422550, 47423305-47423351, 47423399-47423400, 47423447-47423453, 47423483-47423497, 47423509, 47423514-47423518, 47423684-47423698 |
| 807 | COL6A2 | 21 | 0.91176470588235 | 270 | 3060 | 47531453-47531456, 47531471, 47531893-47531927, 47532278-47532313, 47532339-47532345, 47540446, 47540453, 47545390, 47545699-47545726, 47545767-47545776, 47545820-47545829, 47545866-47545873, 47545933-47545981, 47552031-47552051, 47552068-47552083, 47552165-47552167, 47552240-47552242, 47552326-47552360, 47552466 |
| 808 | COL6A2 | 21 | 0.82163742690058 | 61 | 342 | 47552240-47552242, 47552326-47552360, 47552466-47552472, 47552474-47552478, 47552481-47552491 |
| 809 | FTCD | 21 | 0.87453874538745 | 204 | 1626 | 47565340-47565365, 47565378-47565400, 47565412-47565454, 47565463-47565492, 47565732-47565803, 47565831, 47571631, 47571635, 47571641, 47572931, 47572938, 47572947, 47574195-47574197 |
| 810 | PCNT | 21 | 0.96713615023474 | 329 | 10011 | 47744143-47744196, 47766843, 47773197, 47775428, 47783666-47783711, 47786623, 47808674-47808677, 47811149, 47811152, 47817938, 47817992-47818002, 47818007-47818017, 47822341, 47822344-47822346, 47822352-47822357, 47831297-47831298, 47831309-47831311, 47831351, 47831359, 47831365, 47831369, 47831376-47831377, 47831399-47831408, 47831417-47831427, 47831449-47831461, 47831465-47831472, 47831667, 47831699-47831710, 47831718-47831726, 47831731-47831736, 47831749-47831756, 47831760-47831764, 47831775-47831785, 47831788-47831796, 47831800, 47831805-47831807, 47831809-47831810, 47832864-47832883, 47832898-47832906, 47836653, 47836699-47836703, 47848356-47848358, 47850517, 47850520, 47851679-47851687, 47851842-47851844, 47858095, 47863826-47863829, 47863834, 47863837-47863844 |
| 811 | PEX26 | 22 | 0.88888888888889 | 102 | 918 | 18561194-18561249, 18561257-18561264, 18561291-18561321, 18561339, 18561342-18561344, 18561371, 18566320, 18570784 |
| 812 | PRODH | 22 | 0.83638380476983 | 295 | 1803 | 18904414, 18905879-18905902, 18905940-18905941, 18905945, 18923534-18923800 |
| 813 | GP1BB | 22 | 0.08695652173913 | 567 | 621 | 19711377-19711395, 19711398-19711405, 19711412-19711413, 19711422-19711940, 19711950-19711968 |
| 814 | TBX1 | 22 | 0.37163978494624 | 935 | 1488 | 19748428-19748803, 19753305-19753311, 19753341-19753342, 19753345, 19753430-19753441, 19753448, 19753451-19753455, 19753461-19753525, 19753912-19754367, 19754381-19754390 |
| 815 | SMARCB1 | 22 | 0.91882556131261 | 94 | 1158 | 24129357-24129449, 24175810 |
| 816 | UPB1 | 22 | 0.99393939393939 | 7 | 1155 | 24906773, 24906776-24906781 |
| 817 | HPS4 | 22 | 0.98484848484848 | 32 | 2112 | 26849241, 26849249, 26849252, 26849278-26849297, 26859915-26859920, 26859930, 26860374-26860375 |
| 818 | CHEK2 | 22 | 0.92788188529245 | 127 | 1761 | 29083905-29083919, 29083932-29083965, 29085135-29085171, 29091778-29091796, 29091837-29091844, 29126457, 29126530-29126536, 29130674-29130679 |
| 819 | NF2 | 22 | 0.98042505592841 | 35 | 1788 | 30000018-30000043, 30067828, 30069280-30069286, 30074306 |
| 820 | SLC5A1 | 22 | 0.99097744360902 | 18 | 1995 | 32487718-32487721, 32495184-32495186, 32495195, 32495198-32495206, 32495209 |
| 821 | TIMP3 | 22 | 0.9685534591195 | 20 | 636 | 33198011-33198012, 33198018, 33198024-33198034, 33198051-33198056 |
| 822 | MYH9 | 22 | 0.98980112187659 | 60 | 5883 | 36688072-36688104, 36688113-36688117, 36696277-36696297, 36697701 |
| 823 | TRIOBP | 22 | 0.95562130177515 | 315 | 7098 | 38109232, 38109247-38109248, 38109259-38109260, 38109263, 38111842-38111850, 38111856-38111857, 38111860-38111863, 38119742-38119774, 38119798-38119804, 38119856-38119862, 38119879-38119921, 38120038-38120068, 38120150-38120199, 38120297-38120303, 38120394-38120440, 38120480-38120486, 38121989, 38122056, 38129322-38129323, 38129413-38129419, 38130908-38130912, 38153933-38153943, 38161723, 38161739, 38161742, 38165155-38165186 |
| 824 | SOX10 | 22 | 0.84225553176303 | 221 | 1401 | 38369915-38369959, 38379378-38379402, 38379476-38379480, 38379484, 38379487, 38379490-38379495, 38379518-38379519, 38379522-38379528, 38379536-38379537, 38379592, 38379666-38379791 |
| 825 | PLA2G6 | 22 | 0.99876084262701 | 3 | 2421 | 38511602, 38531021-38531022 |
| 826 | ADSL | 22 | 0.9979381443299 | 3 | 1455 | 40745969-40745970, 40745977 |
| 827 | EP300 | 22 | 0.98688750862664 | 95 | 7245 | 41489085-41489096, 41523638-41523651, 41527587, 41527592, 41546090, 41546107-41546113, 41546131-41546135, 41572898, 41573169, 41573182, 41573390, 41574178-41574200, 41574207-41574232, 41574497 |
| 828 | TNFRSF13C | 22 | 0.41621621621622 | 324 | 555 | 42322115-42322176, 42322183-42322199, 42322218-42322237, 42322242-42322258, 42322264-42322335, 42322642-42322777 |
| 829 | CYB5R3 | 22 | 0.97350993377483 | 24 | 906 | 43032850-43032852, 43045301-43045321 |
| 830 | ATXN10 | 22 | 0.92156862745098 | 112 | 1428 | 46067944-46068055 |
| 831 | TRMU | 22 | 0.95813586097946 | 53 | 1266 | 46731693-46731737, 46751374-46751381 |
| 832 | ALG12 | 22 | 0.97205180640763 | 41 | 1467 | 50297497, 50297991-50297993, 50297998, 50298078, 50303622-50303624, 50307358-50307389 |
| 833 | MLC1 | 22 | 0.92416225749559 | 86 | 1134 | 50502469-50502470, 50502478-50502483, 50502501-50502521, 50502572-50502627, 50523274 |
| 834 | SCO2 | 22 | 0.99750312109863 | 2 | 801 | 50962332, 50962559 |
| 835 | TYMP | 22 | 0.58178053830228 | 606 | 1449 | 50964199-50964347, 50964430-50964570, 50964675-50964905, 50965005-50965011, 50965026-50965027, 50965044, 50965062-50965086, 50965116-50965120, 50965131-50965164, 50965167, 50967650-50967655, 50967665-50967668 |
| 836 | ARSA | 22 | 0.96719160104987 | 50 | 1524 | 51063624, 51063638-51063643, 51063656-51063658, 51063664, 51063668-51063675, 51063679-51063680, 51063718-51063722, 51063766, 51063771-51063773, 51063848-51063849, 51064038, 51064044, 51064047-51064050, 51065140-51065144, 51065749, 51065822, 51066163, 51066168, 51066172-51066173, 51066176 |
| 837 | SHANK3 | 22 | 0.59496567505721 | 2124 | 5244 | 51113070-51113132, 51113476-51113508, 51113527-51113570, 51113601-51113604, 51113607, 51117781, 51135671-51135683, 51135694-51135718, 51135951-51136143, 51137168-51137173, 51137177-51137178, 51143232, 51143235-51143248, 51143265, 51143269, 51143272, 51144568-51144569, 51158612-51158614, 51158617, 51158621-51158624, 51158627-51158632, 51158657-51158660, 51158681-51158719, 51158726-51159385, 51159412-51159503, 51159601-51159632, 51159664-51159709, 51159734-51159740, 51159751-51159796, 51159799-51159811, 51159820, 51159829-51159831, 51159870-51159891, 51159900-51159969, 51160000, 51160183-51160218, 51160239-51160245, 51160255-51160258, 51160269-51160270, 51160281, 51160536-51160537, 51160555, 51160558, 51160565, 51160575-51160576, 51160766-51160789, 51160822, 51169149-51169248, 51169254-51169740 |
| 838 | SUMF1 | 3 | 0.99644444444444 | 4 | 1125 | 4458905, 4508732, 4508760, 4508777 |
| 839 | ITPR1 | 3 | 0.99704905938768 | 24 | 8133 | 4726848-4726849, 4726853-4726855, 4726859, 4878497-4878514 |
| 840 | CAV3 | 3 | 0.99780701754386 | 1 | 456 | 8787514 |
| 841 | FANCD2 | 3 | 0.99773550724638 | 10 | 4416 | 10114941-10114947, 10132040, 10132065-10132066 |
| 842 | VHL | 3 | 0.88317757009346 | 75 | 642 | 10183649, 10183659, 10183664-10183665, 10183671-10183680, 10183693-10183741, 10183773-10183774, 10183809-10183818 |
| 843 | TSEN2 | 3 | 0.99928469241774 | 1 | 1398 | 12544793 |
| 844 | RAF1 | 3 | 0.99280945043657 | 14 | 1947 | 12647791-12647798, 12660115-12660120 |
| 845 | WNT7A | 3 | 0.98380952380952 | 17 | 1050 | 13860746, 13860749, 13860765-13860766, 13860786, 13860850-13860853, 13896258, 13921246-13921251, 13921272 |
| 846 | XPC | 3 | 0.99397803754871 | 17 | 2823 | 14187448-14187449, 14188871-14188879, 14220007, 14220013, 14220032, 14220036-14220038 |
| 847 | COLQ | 3 | 0.99926900584795 | 1 | 1368 | 15507850 |
| 848 | TGFBR2 | 3 | 0.99718943226532 | 5 | 1779 | 30648382, 30648419, 30648429, 30648435-30648436 |
| 849 | GLB1 | 3 | 0.96165191740413 | 78 | 2034 | 33099696-33099698, 33138503-33138577 |
| 850 | CRTAP | 3 | 0.60945273631841 | 471 | 1206 | 33155570-33156040 |
| 851 | MLH1 | 3 | 0.98678996036988 | 30 | 2271 | 37067162, 37067188-37067213, 37067218, 37070419, 37090502 |
| 852 | SCN5A | 3 | 0.99133978604177 | 51 | 5889 | 38592029-38592065, 38597166-38597177, 38622683, 38648182 |
| 853 | ABHD5 | 3 | 0.95142857142857 | 51 | 1050 | 43732485-43732531, 43740823-43740825, 43756536 |
| 854 | TMIE | 3 | 0.67538126361656 | 149 | 459 | 46742860-46742967, 46742991-46742994, 46743006-46743008, 46743024-46743029, 46743043-46743070 |
| 855 | TMIE | 3 | 0.90658174097665 | 44 | 471 | 46742991-46742994, 46743006-46743008, 46743024-46743029, 46743043-46743070, 46751074-46751076 |
| 856 | TREX1 | 3 | 0.97837837837838 | 24 | 1110 | 48508031-48508033, 48508036, 48508046-48508063, 48508542, 48508920 |
| 857 | COL7A1 | 3 | 0.98313525749859 | 149 | 8835 | 48602630-48602633, 48604435-48604436, 48607338, 48612511-48612518, 48612819-48612821, 48612846-48612852, 48612858-48612859, 48612862-48612863, 48612872-48612873, 48612876, 48612887-48612893, 48612901-48612906, 48612912, 48612915-48612922, 48619177, 48625764-48625772, 48627085-48627095, 48627116-48627151, 48627690, 48627693-48627696, 48629643, 48629653, 48629656-48629660, 48629665-48629667, 48629824-48629825, 48630551, 48630559, 48632531-48632542, 48632544-48632548, 48632566-48632567 |
| 858 | LAMB2 | 3 | 0.98906800074115 | 59 | 5397 | 49159457, 49160375, 49162019, 49162024-49162028, 49162309-49162311, 49162726-49162731, 49162736-49162738, 49162784-49162800, 49162806-49162812, 49162888, 49163205, 49163222, 49163233-49163237, 49163574-49163576, 49166132-49166134, 49166137 |
| 859 | AMT | 3 | 0.98762376237624 | 15 | 1212 | 49456489-49456503 |
| 860 | GNAT1 | 3 | 0.84520417853751 | 163 | 1053 | 50231186-50231199, 50231211-50231258, 50231527-50231567, 50231605-50231651, 50232198, 50232261-50232267, 50232316-50232320 |
| 861 | RFT1 | 3 | 0.95633456334563 | 71 | 1626 | 53138085-53138087, 53138102, 53156421-53156463, 53156540-53156546, 53157771-53157778, 53157781-53157789 |
| 862 | TKT | 3 | 0.93856837606838 | 115 | 1872 | 53263035-53263039, 53263151-53263153, 53289852-53289958 |
| 863 | HESX1 | 3 | 0.97849462365591 | 12 | 558 | 57232232, 57232249-57232252, 57232259-57232260, 57233810, 57233869-57233870, 57233878-57233879 |
| 864 | FLNB | 3 | 0.99487770521193 | 40 | 7809 | 57994397-57994416, 58109161-58109162, 58109364, 58116609, 58133966, 58133969-58133976, 58145363, 58145371-58145376 |
| 865 | PDHB | 3 | 0.92962962962963 | 76 | 1080 | 58416470-58416494, 58416501-58416510, 58416513, 58416566, 58419359, 58419369-58419396, 58419402-58419411 |
| 866 | ATXN7 | 3 | 0.87420718816068 | 357 | 2838 | 63898275-63898599, 63982035-63982051, 63982054-63982062, 63982065, 63982070-63982074 |
| 867 | MITF | 3 | 0.98464491362764 | 24 | 1563 | 69788749-69788761, 69928413, 69928416-69928424, 69928454 |
| 868 | PROK2 | 3 | 0.91282051282051 | 34 | 390 | 71834144-71834176, 71834186 |
| 869 | ROBO2 | 3 | 0.99564902102973 | 18 | 4137 | 77530336, 77530343-77530345, 77530350, 77600009, 77684105-77684116 |
| 870 | GBE1 | 3 | 0.99668089141773 | 7 | 2109 | 81630362, 81643088-81643089, 81692039, 81698075, 81754598-81754599 |
| 871 | POU1F1 | 3 | 0.99685534591195 | 3 | 954 | 87313561-87313563 |
| 872 | PROS1 | 3 | 0.98473658296406 | 31 | 2031 | 93595868-93595869, 93595931-93595939, 93595959-93595971, 93605260-93605261, 93615446, 93629531-93629532, 93692564, 93692569 |
| 873 | ARL13B | 3 | 0.98368298368298 | 21 | 1287 | 93761883-93761884, 93762032-93762038, 93762041-93762044, 93762053, 93762056-93762058, 93768339-93768342 |
| 874 | CPOX | 3 | 0.81025641025641 | 259 | 1365 | 98311881, 98311884-98311886, 98311909-98311911, 98311914, 98311931-98311957, 98311965-98311972, 98312024, 98312027, 98312076, 98312111-98312323 |
| 875 | IQCB1 | 3 | 0.99888703394546 | 2 | 1797 | 121526203-121526204 |
| 876 | CASR | 3 | 0.97250540624035 | 89 | 3237 | 122003102, 122003327-122003329, 122003336, 122003431, 122003434, 122003446-122003494, 122003505-122003532, 122003600-122003604 |
| 877 | GP9 | 3 | 0.99250936329588 | 4 | 534 | 128780961, 128781057, 128781067, 128781116 |
| 878 | RHO | 3 | 0.99140401146132 | 9 | 1047 | 129251378, 129251383-129251390 |
| 879 | ATP2C1 | 3 | 0.99894736842105 | 3 | 2850 | 130660520, 130698161-130698162 |
| 880 | NPHP3 | 3 | 0.93638868019033 | 254 | 3993 | 132405159-132405160, 132409435-132409443, 132435669-132435672, 132435675-132435676, 132435691-132435692, 132435695-132435699, 132435719, 132435723, 132438558-132438564, 132438581-132438582, 132438603, 132438619-132438620, 132438628-132438633, 132438652-132438663, 132438668-132438674, 132440821-132440827, 132440941, 132440987-132440988, 132440993-132440995, 132440998, 132441023-132441199 |
| 881 | FOXL2 | 3 | 0.24933687002653 | 849 | 1131 | 138664464, 138664484, 138664540-138665086, 138665092-138665100, 138665113-138665137, 138665141-138665142, 138665158, 138665161, 138665175-138665425, 138665432-138665433, 138665442-138665446, 138665479, 138665526, 138665531, 138665551 |
| 882 | PLOD2 | 3 | 0.99341238471673 | 15 | 2277 | 145791095, 145791101-145791102, 145799623-145799628, 145804645, 145820614, 145828154, 145828157-145828159 |
| 883 | HPS3 | 3 | 0.98673300165837 | 40 | 3015 | 148847545-148847556, 148847592, 148847668, 148847671, 148863309-148863333 |
| 884 | GFM1 | 3 | 0.99645390070922 | 8 | 2256 | 158362441-158362442, 158362445, 158362453, 158362458, 158399852-158399854 |
| 885 | IFT80 | 3 | 0.99742268041237 | 6 | 2328 | 160099348, 160099477-160099481 |
| 886 | PLD1 | 3 | 0.99875968992248 | 4 | 3225 | 171379940-171379943 |
| 887 | GHSR | 3 | 0.99636693914623 | 4 | 1101 | 172166073, 172166080, 172166087, 172166106 |
| 888 | DNAJC19 | 3 | 0.95441595441595 | 16 | 351 | 180702468-180702471, 180702480-180702489, 180702497-180702498 |
| 889 | SOX2 | 3 | 0.68658280922432 | 299 | 954 | 181430149-181430152, 181430175-181430245, 181430258-181430284, 181430287, 181430293-181430298, 181430308-181430317, 181430322-181430344, 181430352, 181430355-181430360, 181430366-181430369, 181430387-181430409, 181430417-181430448, 181430513-181430517, 181430520-181430524, 181430527-181430532, 181430535-181430546, 181430557-181430604, 181430723-181430727, 181430746, 181430830-181430837, 181430939 |
| 890 | MCCC1 | 3 | 0.99862258953168 | 3 | 2178 | 182790249, 182804525, 182817208 |
| 891 | EIF2B5 | 3 | 0.99815327793167 | 4 | 2166 | 183853225, 183853272, 183853276, 183860305 |
| 892 | ALG3 | 3 | 0.99240698557327 | 10 | 1317 | 183960398-183960400, 183963013, 183963016, 183966626-183966627, 183966633, 183966636, 183966724 |
| 893 | CLCN2 | 3 | 0.99888765294772 | 3 | 2697 | 184064786, 184071903, 184075432 |
| 894 | TP63 | 3 | 0.99657366617719 | 7 | 2043 | 189584516-189584522 |
| 895 | CLDN16 | 3 | 0.99891067538126 | 1 | 918 | 190126230 |
| 896 | CCDC50 | 3 | 0.99930986887509 | 1 | 1449 | 191097966 |
| 897 | OPA1 | 3 | 0.98884514435696 | 34 | 3048 | 193343947-193343950, 193354989-193354993, 193355039-193355063 |
| 898 | PDE6B | 4 | 0.98401559454191 | 41 | 2565 | 619537-619544, 619553-619555, 619563-619567, 629738, 629745-629746, 652741-652756, 656916-656919, 659111, 663886 |
| 899 | IDUA | 4 | 0.67329255861366 | 641 | 1962 | 980873-981002, 981635, 981639-981641, 981647, 981673-981677, 995775-995777, 995815-995820, 995863-995869, 995925, 995947-995949, 996058, 996064-996065, 996155-996175, 996221-996273, 996520-996732, 996824-996945, 997133-997200, 997900 |
| 900 | FGFR3 | 4 | 0.87803873094355 | 296 | 2427 | 1795662-1795700, 1795709-1795715, 1795720, 1795723, 1795726-1795731, 1795747, 1795754, 1800999-1801003, 1801045, 1801203, 1803094-1803099, 1803112-1803146, 1803347-1803361, 1803365-1803366, 1803370-1803378, 1803396-1803402, 1803462-1803465, 1803568, 1803571-1803572, 1803575-1803578, 1803597-1803601, 1803629-1803631, 1803660, 1803751-1803752, 1804673-1804674, 1804678-1804685, 1806634-1806635, 1806653, 1806657, 1808359, 1808556-1808602, 1808611, 1808617, 1808622-1808627, 1808630, 1808644, 1808646-1808654, 1808659-1808661, 1808858-1808870, 1808885-1808887, 1808908-1808909, 1808918-1808931, 1808935, 1808940-1808948, 1808974-1808981, 1808987-1808989 |
| 901 | SH3BP2 | 4 | 0.89876144318794 | 188 | 1857 | 2819951-2820117, 2822467, 2826431-2826435, 2831380, 2831383-2831387, 2831570-2831576, 2834749, 2834752 |
| 902 | HTT | 4 | 0.95121433874218 | 460 | 9429 | 3076553-3076603, 3076604-3076812, 3105578, 3123036-3123037, 3123041-3123042, 3123070-3123093, 3123096-3123104, 3136154, 3149828, 3208347, 3213777-3213813, 3227406-3227419, 3227422, 3234890-3234910, 3234948-3234955, 3234960, 3234968-3234975, 3237386-3237389, 3240301, 3240305-3240306, 3240310-3240316, 3240632, 3240643-3240684, 3241680-3241683, 3241699, 3241713-3241719 |
| 903 | DOK7 | 4 | 0.79405940594059 | 312 | 1515 | 3465103-3465156, 3465233-3465278, 3475193, 3475197, 3475221-3475224, 3478077, 3478086, 3478104, 3478152-3478153, 3478156-3478157, 3478205, 3494541-3494542, 3494551-3494553, 3494557, 3494607-3494670, 3494677, 3494680-3494682, 3494751-3494787, 3494842-3494884, 3494956, 3495002-3495032, 3495060-3495061, 3495067, 3495079, 3495092-3495094, 3495133, 3495138-3495140, 3495149 |
| 904 | DOK7 | 4 | 0.67851099830795 | 190 | 591 | 3494541-3494542, 3494551-3494553, 3494557, 3494607-3494670, 3494677, 3494680-3494682, 3494751-3494787, 3494842-3494884, 3494956, 3495002-3495032, 3495060-3495061, 3495067, 3495079 |
| 905 | MSX1 | 4 | 0.65021929824561 | 319 | 912 | 4861627-4861879, 4861897-4861898, 4861904-4861915, 4861920-4861943, 4861961-4861962, 4861966-4861970, 4864428-4864432, 4864503, 4864506-4864516, 4864741, 4864749, 4864762, 4864797 |
| 906 | EVC2 | 4 | 0.96893302775656 | 122 | 3927 | 5570253-5570254, 5570263-5570268, 5570272-5570275, 5570277, 5570279-5570286, 5578107-5578128, 5710045-5710047, 5710054, 5710065, 5710101, 5710106-5710128, 5710131-5710134, 5710139-5710142, 5710146-5710147, 5710150, 5710177, 5710203-5710240 |
| 907 | EVC | 4 | 0.90768714333669 | 275 | 2979 | 5713108-5713279, 5743463, 5754653, 5754722-5754768, 5785442, 5795417, 5795420, 5795423-5795424, 5795427-5795435, 5795440-5795441, 5800368-5800375, 5800385, 5800430-5800431, 5800439, 5800443, 5803730-5803737, 5806560-5806568, 5809967-5809969, 5809986-5809990 |
| 908 | WFS1 | 4 | 0.97268986157875 | 73 | 2673 | 6293691, 6293696, 6293701-6293705, 6296862, 6302667, 6302670, 6302996-6303005, 6303010-6303020, 6303022, 6303025, 6303313-6303323, 6303346-6303354, 6303527, 6303601, 6303605, 6303612, 6303776-6303777, 6303780, 6303794-6303797, 6303879-6303881, 6303888-6303889, 6303892, 6303967, 6303974, 6303977 |
| 909 | SLC2A9 | 4 | 0.9581022797289 | 68 | 1623 | 9828101-9828102, 9922093-9922094, 9982238, 9982245-9982250, 10020646-10020674, 10022946-10022956, 10022967-10022970, 10022973-10022985 |
| 910 | CC2D2A | 4 | 0.99794365617931 | 10 | 4863 | 15556783, 15569002-15569003, 15569009-15569011, 15569018, 15591206, 15591210, 15591264 |
| 911 | PROM1 | 4 | 0.9949961508853 | 13 | 2598 | 16077471-16077483 |
| 912 | QDPR | 4 | 0.90204081632653 | 72 | 735 | 17513578-17513592, 17513601-17513603, 17513624-17513677 |
| 913 | CNGA1 | 4 | 0.93421052631579 | 150 | 2280 | 47954628-47954639, 47954648-47954650, 47954654, 47954663-47954666, 47954671, 47954678-47954687, 47954691-47954693, 47972913-47972937, 47972960-47972984, 47973001-47973036, 47973045-47973051, 47973056-47973057, 47973095-47973115 |
| 914 | SGCB | 4 | 0.91849529780564 | 78 | 957 | 52895872-52895915, 52896029, 52904393-52904425 |
| 915 | PDGFRA | 4 | 0.99418960244648 | 19 | 3270 | 55127359-55127370, 55127466, 55127470-55127475 |
| 916 | KIT | 4 | 0.99078812691914 | 27 | 2931 | 55524182, 55524187, 55524190-55524199, 55524203, 55524217-55524219, 55524228-55524233, 55524237, 55524240-55524241, 55569911, 55598110 |
| 917 | SLC4A4 | 4 | 0.9972602739726 | 9 | 3285 | 72306441-72306449 |
| 918 | ALB | 4 | 0.99672131147541 | 6 | 1830 | 74274379, 74274384-74274386, 74280794, 74280798 |
| 919 | COQ2 | 4 | 0.8034632034632 | 227 | 1155 | 84188847-84188849, 84193289, 84205698-84205915, 84205928-84205930, 84205935-84205936 |
| 920 | CDS1 | 4 | 0.97763347763348 | 31 | 1386 | 85504557, 85504563-85504564, 85504567, 85504592, 85504598-85504610, 85504614-85504616, 85556479, 85560086, 85562029, 85569740-85569745, 85569750 |
| 921 | DMP1 | 4 | 0.99866131191432 | 2 | 1494 | 88583946-88583947 |
| 922 | PKD2 | 4 | 0.8015135878913 | 577 | 2907 | 88928886-88929448, 88929456-88929457, 88973232-88973234, 88973255, 88973259, 88983122-88983127, 88987003 |
| 923 | SNCA | 4 | 0.99763593380615 | 1 | 423 | 90749327 |
| 924 | MTTP | 4 | 0.99739292364991 | 7 | 2685 | 100529975, 100529980, 100529984-100529986, 100530048-100530049 |
| 925 | MANBA | 4 | 0.98219696969697 | 47 | 2640 | 103610738-103610739, 103611805, 103611846-103611851, 103635636-103635637, 103644074, 103644113, 103681997-103682030 |
| 926 | CISD2 | 4 | 0.90441176470588 | 39 | 408 | 103806567-103806574, 103808511-103808522, 103808569-103808587 |
| 927 | TACR3 | 4 | 0.99785407725322 | 3 | 1398 | 104512727, 104640727, 104640744 |
| 928 | HADH | 4 | 0.94285714285714 | 54 | 945 | 108911125-108911150, 108911192-108911218, 108955449 |
| 929 | CFI | 4 | 0.99657534246575 | 6 | 1752 | 110670426-110670427, 110673644, 110723109, 110723112-110723113 |
| 930 | GAR1 | 4 | 0.9954128440367 | 3 | 654 | 110737411, 110743522-110743523 |
| 931 | PITX2 | 4 | 0.99282051282051 | 7 | 975 | 111539762-111539764, 111542422-111542425 |
| 932 | ANK2 | 4 | 0.99831564763348 | 20 | 11874 | 114120238-114120239, 114161705-114161714, 114232476, 114232496, 114251498, 114274354-114274358 |
| 933 | BBS7 | 4 | 0.987895716946 | 26 | 2148 | 122747117, 122749815, 122754426-122754431, 122754439-122754442, 122756413, 122766738-122766739, 122766749-122766751, 122775923, 122775936, 122775940-122775943, 122782810, 122784404 |
| 934 | MFSD8 | 4 | 0.99293513166346 | 11 | 1557 | 128851853, 128851883, 128851896, 128851900, 128859960-128859965, 128859993 |
| 935 | SMAD1 | 4 | 0.99356223175966 | 9 | 1398 | 146463764-146463772 |
| 936 | NR3C2 | 4 | 0.99323181049069 | 20 | 2955 | 149075965-149075970, 149075976-149075984, 149075993-149075997 |
| 937 | FGA | 4 | 0.97078046905037 | 76 | 2601 | 155507611-155507680, 155507945-155507946, 155507950-155507953 |
| 938 | FGG | 4 | 0.9992657856094 | 1 | 1362 | 155533562 |
| 939 | LRAT | 4 | 0.998556998557 | 1 | 693 | 155665918 |
| 940 | CTSO | 4 | 0.90890269151139 | 88 | 966 | 156863601, 156874871-156874875, 156874879-156874881, 156874890-156874892, 156874896-156874905, 156874908-156874913, 156874919-156874927, 156874937-156874972, 156874985-156874999 |
| 941 | GLRB | 4 | 0.96586345381526 | 51 | 1494 | 158041708-158041746, 158060012, 158060015-158060023, 158091794, 158091797 |
| 942 | GK | 4 | 0.94283995186522 | 95 | 1662 | 166199146, 166199361, 166199389-166199390, 166199423-166199432, 166199563-166199569, 166199723-166199766, 166200757-166200786 |
| 943 | AGA | 4 | 0.99231508165226 | 8 | 1041 | 178357489-178357496 |
| 944 | SLC25A4 | 4 | 0.87625418060201 | 111 | 897 | 186064527-186064637 |
| 945 | F11 | 4 | 0.99840255591054 | 3 | 1878 | 187195376, 187208888-187208889 |
| 946 | SDHA | 5 | 0.94987468671679 | 100 | 1995 | 218471-218489, 218499-218510, 218513-218533, 226096, 233689-233696, 236673-236681, 251107-251114, 251562-251583 |
| 947 | SLC6A19 | 5 | 0.98425196850394 | 30 | 1905 | 1201772-1201779, 1208943-1208948, 1208951, 1208964, 1213624-1213628, 1213634-1213637, 1213654, 1213668, 1217001, 1219685-1219686 |
| 948 | TERT | 5 | 0.80670785525154 | 657 | 3399 | 1253911, 1254590, 1254593, 1254605-1254606, 1255402-1255408, 1271303, 1280366-1280369, 1280377, 1280380-1280384, 1280393, 1280396, 1282721-1282722, 1293449-1293452, 1293725-1293726, 1293789, 1294074-1294077, 1294086, 1294090, 1294107, 1294267, 1294273, 1294279-1294282, 1294324-1294370, 1294380-1294388, 1294397, 1294412-1294420, 1294425-1294454, 1294467-1294471, 1294478-1294485, 1294500-1294781, 1294886-1295104 |
| 949 | SLC6A3 | 5 | 0.98389694041868 | 30 | 1863 | 1406346-1406356, 1414811, 1414814-1414823, 1414832-1414839 |
| 950 | SDHA | 5 | 0.79510703363914 | 67 | 327 | 1593261-1593267, 1594510-1594569 |
| 951 | NDUFS6 | 5 | 0.992 | 3 | 375 | 1801583-1801585 |
| 952 | MTRR | 5 | 0.98989898989899 | 22 | 2178 | 7869262-7869269, 7883323, 7897006-7897017, 7897319 |
| 953 | DNAH5 | 5 | 0.98097297297297 | 264 | 13875 | 13721219-13721230, 13771066, 13810178-13810252, 13810265-13810276, 13810288-13810333, 13810343, 13820491, 13830832-13830835, 13862707, 13862736, 13862844-13862845, 13865919, 13885287, 13894893-13894895, 13894898-13894900, 13894910-13894911, 13894915, 13894926, 13901464-13901466, 13901469-13901473, 13901478-13901479, 13916457-13916460, 13916476-13916481, 13916492-13916544, 13916563-13916564, 13919291-13919311 |
| 954 | ANKH | 5 | 0.98444895199459 | 23 | 1479 | 14749286-14749289, 14749296-14749297, 14749300-14749301, 14769273-14769283, 14769287-14769290 |
| 955 | FAM134B | 5 | 0.80589022757697 | 290 | 1494 | 16475088-16475093, 16477865-16477871, 16477893-16477897, 16478986, 16483472, 16483476-16483477, 16616774-16616783, 16616792-16616801, 16616821-16616834, 16616837-16616850, 16616853-16616857, 16616866-16617080 |
| 956 | AMACR | 5 | 0.92254134029591 | 89 | 1149 | 33989349-33989351, 33989354-33989358, 33989387-33989389, 33998768, 33998774, 33998778, 33998836-33998842, 34007881-34007884, 34007906-34007946, 34007994-34008016 |
| 957 | NIPBL | 5 | 0.98110516934046 | 159 | 8415 | 36962325, 36972116, 37000575, 37002841-37002842, 37016211-37016225, 37024753-37024760, 37036481-37036589, 37048630, 37048648, 37048657-37048663, 37048705-37048707, 37048715, 37051940-37051942, 37064014-37064018, 37064051 |
| 958 | LIFR | 5 | 0.99180327868852 | 27 | 3294 | 38482726, 38490368, 38493795-38493801, 38502861-38502865, 38506164-38506176 |
| 959 | OXCT1 | 5 | 0.99936020473448 | 1 | 1563 | 41862787 |
| 960 | ITGA2 | 5 | 0.98364354201918 | 58 | 3546 | 52285299-52285303, 52285309-52285346, 52351383-52351389, 52351402-52351403, 52351935, 52386361, 52386367-52386368, 52386421-52386422 |
| 961 | MOCS2 | 5 | 0.99647266313933 | 2 | 567 | 52394496-52394497 |
| 962 | NDUFS4 | 5 | 0.99810606060606 | 1 | 528 | 52942133 |
| 963 | ERCC8 | 5 | 0.96137699412259 | 46 | 1191 | 60170442-60170449, 60170464, 60186727-60186728, 60186731, 60186874-60186887, 60200630-60200635, 60200648, 60200659, 60200665, 60200681-60200686, 60200689, 60217898-60217900, 60217903 |
| 964 | NDUFAF2 | 5 | 0.94901960784314 | 26 | 510 | 60448593, 60448658-60448661, 60448714-60448719, 60448728-60448741, 60448763 |
| 965 | SMN2 | 5 | 0.99774011299435 | 2 | 885 | 69345545, 69362949 |
| 966 | SMN2 | 5 | 0.99661016949153 | 3 | 885 | 70220963-70220964, 70238373 |
| 967 | HEXB | 5 | 0.93237582286056 | 113 | 1671 | 73981087-73981091, 73981096-73981104, 73981115-73981120, 73981123-73981133, 73981138-73981153, 73981213, 73981218-73981221, 73981224-73981226, 73981229-73981231, 73981234-73981252, 73981256-73981258, 73981270, 73981273-73981282, 73981321, 73981323-73981324, 73981327, 73981339-73981342, 73981346, 73981349-73981356, 73981360, 73981379, 73981382-73981383, 73985215 |
| 968 | AP3B1 | 5 | 0.98995433789954 | 33 | 3285 | 77311334-77311338, 77311347-77311350, 77477372, 77523974, 77523981, 77536690, 77536726-77536729, 77536741-77536748, 77536759, 77563413-77563419 |
| 969 | ARSB | 5 | 0.79962546816479 | 321 | 1602 | 78181543-78181551, 78280760-78281071 |
| 970 | VCAN | 5 | 0.99803748405456 | 20 | 10191 | 82786162-82786164, 82786171-82786186, 82786194 |
| 971 | RASA1 | 5 | 0.94083969465649 | 186 | 3144 | 86564328, 86564541-86564544, 86564547-86564549, 86564556, 86564577, 86633830, 86645125, 86645128-86645129, 86669980-86670137, 86672327-86672337, 86672348-86672350 |
| 972 | MEF2C | 5 | 0.96272855133615 | 53 | 1422 | 88024391-88024437, 88027713-88027718 |
| 973 | GPR98 | 5 | 0.98921832884097 | 204 | 18921 | 89854713-89854716, 89910686-89910692, 89914962, 89925146, 89925158-89925159, 89933602-89933608, 89933611-89933614, 89939647-89939650, 89948229-89948238, 89948258, 89948264-89948266, 89979584, 89979589, 89981635-89981641, 89981705-89981706, 89981715-89981716, 90012377-90012382, 90015989, 90015992-90015994, 90049596-90049599, 90049612-90049615, 90052271-90052273, 90052959-90052978, 90074294-90074295, 90074298, 90074312-90074361, 90074805-90074806, 90098624, 90098681-90098683, 90124767-90124791, 90144550, 90144566-90144568, 90144578, 90144581, 90144597-90144604, 90144607-90144610, 90261253-90261254, 90445944, 90449084 |
| 974 | WDR36 | 5 | 0.99264705882353 | 21 | 2856 | 110436323, 110436408-110436420, 110438086, 110456704, 110459606, 110459619-110459621, 110461327 |
| 975 | APC | 5 | 0.99824191279887 | 15 | 8532 | 112162812, 112176657-112176670 |
| 976 | HSD17B4 | 5 | 0.9692446856626 | 68 | 2211 | 118811533, 118835056-118835059, 118835062-118835063, 118835075, 118835082, 118835094-118835134, 118861673, 118861680, 118861696-118861703, 118861713, 118867013-118867019 |
| 977 | HSD17B4 | 5 | 0.96099290780142 | 11 | 282 | 118861673, 118861680, 118861696-118861703, 118861713 |
| 978 | ALDH7A1 | 5 | 0.99135802469136 | 14 | 1620 | 125894962-125894963, 125894977-125894979, 125930825-125930833 |
| 979 | LMNB1 | 5 | 0.8869960249858 | 199 | 1761 | 126113201-126113227, 126113235-126113250, 126113256-126113291, 126113303, 126113309, 126113370-126113385, 126113407-126113421, 126113431-126113501, 126113508, 126113514, 126168480-126168493 |
| 980 | FBN2 | 5 | 0.9784872411031 | 188 | 8739 | 127614426-127614483, 127614492-127614497, 127614514, 127614517, 127645000, 127645706-127645712, 127681189, 127702070, 127702073-127702077, 127702090-127702093, 127713476, 127863652-127863655, 127873046-127873061, 127873069-127873071, 127873074, 127873079, 127873083, 127873092-127873097, 127873111-127873135, 127873146-127873188, 127873276-127873277 |
| 981 | SLC22A5 | 5 | 0.92413381123059 | 127 | 1674 | 131705666, 131705686, 131705695, 131705743-131705744, 131705747-131705751, 131705758-131705830, 131705872, 131705917-131705924, 131705948-131705966, 131721138, 131721141-131721143, 131721146, 131726586-131726596 |
| 982 | TGFBI | 5 | 0.95808966861598 | 86 | 2052 | 135364745-135364765, 135364773-135364779, 135364790-135364829, 135364839-135364855, 135364878 |
| 983 | MYOT | 5 | 0.98463593854375 | 23 | 1497 | 137206560-137206563, 137206569, 137213259-137213263, 137213271, 137213276, 137221747, 137221805, 137221814-137221815, 137221821-137221822, 137221876, 137223071-137223074 |
| 984 | SIL1 | 5 | 0.97402597402597 | 36 | 1386 | 138282892-138282925, 138463510-138463511 |
| 985 | MATR3 | 5 | 0.98663522012579 | 34 | 2544 | 138643136, 138643146, 138643149-138643156, 138643169, 138643193-138643194, 138651823, 138651847-138651850, 138651853-138651854, 138651858-138651860, 138651871, 138658507, 138658510-138658513, 138658517, 138658544, 138658547-138658549 |
| 986 | SRA1 | 5 | 0.9985935302391 | 1 | 711 | 139931636 |
| 987 | DIAPH1 | 5 | 0.94998690756743 | 191 | 3819 | 140907262, 140953305-140953310, 140953364-140953371, 140953374, 140953377, 140953395-140953426, 140953437-140953482, 140953527-140953547, 140953553, 140953562-140953566, 140953569-140953574, 140953582-140953601, 140958693-140958696, 140958699, 140960422-140960425, 140960428-140960429, 140998425, 140998444-140998474 |
| 988 | POU4F3 | 5 | 0.99705014749263 | 3 | 1017 | 145718787, 145718792, 145719149 |
| 989 | SPINK5 | 5 | 0.99908675799087 | 3 | 3285 | 147466095, 147475386, 147513448 |
| 990 | SH3TC2 | 5 | 0.99922420480993 | 3 | 3867 | 148384418-148384419, 148407708 |
| 991 | PDE6A | 5 | 0.99922570654278 | 2 | 2583 | 149240530, 149264084 |
| 992 | SLC26A2 | 5 | 0.9963963963964 | 8 | 2220 | 149361214-149361221 |
| 993 | TCOF1 | 5 | 0.99012855831038 | 43 | 4356 | 149737310-149737313, 149737321-149737326, 149737362, 149737387-149737391, 149737395, 149737402-149737411, 149753918-149753919, 149753923, 149754323, 149755452, 149755456-149755461, 149755466, 149776018-149776021 |
| 994 | GM2A | 5 | 0.99828178694158 | 1 | 582 | 150632819 |
| 995 | SGCD | 5 | 0.99885057471264 | 1 | 870 | 156184612 |
| 996 | ITK | 5 | 0.98926462694579 | 20 | 1863 | 156670719-156670738 |
| 997 | NIPAL4 | 5 | 0.93433261955746 | 92 | 1401 | 156887188, 156887228-156887232, 156887238, 156887281-156887365 |
| 998 | IL12B | 5 | 0.96555217831814 | 34 | 987 | 158747416-158747417, 158749409, 158749430, 158749433-158749445, 158749448-158749464 |
| 999 | GABRA1 | 5 | 0.99927060539752 | 1 | 1371 | 161324213 |
| 1000 | NKX2-5 | 5 | 0.91692307692308 | 81 | 975 | 172659688, 172659736, 172660061-172660078, 172660095, 172660123-172660132, 172661877-172661879, 172661883-172661908, 172661914, 172661917, 172661999-172662017 |
| 1001 | MSX2 | 5 | 0.74626865671642 | 204 | 804 | 174151690-174151798, 174151823-174151826, 174151831-174151837, 174151848-174151927, 174152019, 174152027, 174152031, 174156560 |
| 1002 | NSD1 | 5 | 0.99987640588308 | 1 | 8091 | 176719158 |
| 1003 | F12 | 5 | 0.98453608247423 | 9 | 582 | 176830313-176830321 |
| 1004 | F12 | 5 | 0.95616883116883 | 81 | 1848 | 176830313-176830321, 176830543-176830546, 176830551-176830557, 176830875-176830906, 176830936-176830948, 176830959-176830971, 176831256-176831258 |
| 1005 | PROP1 | 5 | 0.9985315712188 | 1 | 681 | 177422876 |
| 1006 | NHP2 | 5 | 0.99350649350649 | 3 | 462 | 177580739-177580740, 177580743 |
| 1007 | GRM6 | 5 | 0.81473044798785 | 488 | 2634 | 178413889-178413890, 178415994-178416009, 178416014-178416016, 178416032, 178421447-178421448, 178421453, 178421483-178421945 |
| 1008 | SQSTM1 | 5 | 0.8442932728647 | 206 | 1323 | 179247937-179248141, 179260654 |
| 1009 | FLT4 | 5 | 0.95136852394917 | 199 | 4092 | 180038357-180038362, 180038366, 180038373-180038375, 180045869, 180045887, 180045902, 180045914-180045915, 180046021-180046109, 180046272, 180046340-180046342, 180048148-180048171, 180048577-180048580, 180048698, 180051055, 180057023-180057024, 180057228, 180076488-180076545 |
| 1010 | FOXC1 | 6 | 0.20517448856799 | 1321 | 1662 | 1610681-1610834, 1610841-1610917, 1610938-1610987, 1610993-1611090, 1611094-1611107, 1611134-1611145, 1611162, 1611167, 1611180-1611222, 1611266-1612071, 1612108-1612112, 1612124-1612165, 1612187-1612203, 1612314 |
| 1011 | TUBB2B | 6 | 0.94170403587444 | 78 | 1338 | 3225000-3225004, 3225026, 3225035-3225044, 3225132-3225155, 3225391-3225393, 3225409, 3225452-3225455, 3225458-3225461, 3225474-3225475, 3225481-3225497, 3225573, 3227755, 3227758, 3227766, 3227769-3227771 |
| 1012 | DSP | 6 | 0.99744661095636 | 22 | 8616 | 7542225-7542230, 7542251, 7542256, 7556007, 7556031, 7567605-7567609, 7568014-7568018, 7581283, 7583879 |
| 1013 | TFAP2A | 6 | 0.96499238964992 | 46 | 1314 | 10398780-10398781, 10398788, 10404744-10404779, 10404816-10404819, 10410299, 10410360, 10410535 |
| 1014 | DTNBP1 | 6 | 0.94412878787879 | 59 | 1056 | 15627624-15627626, 15663045-15663100 |
| 1015 | ATXN1 | 6 | 0.95343137254902 | 114 | 2448 | 16306886, 16306890, 16306893-16306897, 16327403, 16327572-16327573, 16327584-16327595, 16327852-16327930, 16327933, 16327936-16327947 |
| 1016 | NHLRC1 | 6 | 0.91582491582492 | 100 | 1188 | 18122353, 18122466-18122470, 18122600-18122630, 18122647-18122664, 18122694-18122735, 18122822-18122824 |
| 1017 | ALDH5A1 | 6 | 0.84335154826958 | 258 | 1647 | 24495266, 24495290-24495294, 24495304-24495450, 24495463, 24495469-24495477, 24495480-24495482, 24495485-24495576 |
| 1018 | HFE | 6 | 0.99522445081184 | 5 | 1047 | 26087725, 26087728, 26087733-26087734, 26091775 |
| 1019 | HLA-H | 6 | 0.84533333333333 | 116 | 750 | 29855837, 29855845-29855846, 29855849, 29855854-29855865, 29855871-29855889, 29855978, 29856271, 29856311-29856314, 29856318, 29856330, 29856347, 29856353, 29856369-29856372, 29856376, 29856386-29856405, 29856415-29856428, 29856431-29856439, 29856512, 29856516, 29856523-29856534, 29856546, 29856550, 29856584-29856586, 29856596, 29856611, 29856686, 29856693 |
| 1020 | NEU1 | 6 | 0.98878205128205 | 14 | 1248 | 31830524-31830537 |
| 1021 | CFB | 6 | 0.99973691133912 | 1 | 3801 | 31895821 |
| 1022 | TNXB | 6 | 0.92223950233281 | 150 | 1929 | 31976391, 31976397, 31976403, 31976899, 31976916, 31976926, 31977387-31977394, 31977525-31977555, 31977835-31977841, 31977994-31978002, 31978498-31978517, 31978580-31978587, 31978782-31978788, 31979444-31979482, 31979963, 31980000, 31980130-31980142 |
| 1023 | CYP21A2 | 6 | 0.93951612903226 | 90 | 1488 | 32006215-32006217, 32006220-32006223, 32006238-32006247, 32006337, 32006530, 32006966-32006974, 32007787-32007793, 32007846-32007852, 32008730-32008733, 32008764, 32008865-32008907 |
| 1024 | TNXB | 6 | 0.98216670594705 | 227 | 12729 | 32009126, 32009631-32009664, 32010122-32010129, 32010269-32010275, 32010569-32010575, 32010728-32010736, 32011235, 32011248, 32011313-32011321, 32011641-32011647, 32012298-32012336, 32012814-32012820, 32012984-32013029, 32025870, 32035443, 32046827, 32050067-32050068, 32063937, 32064098, 32064124-32064131, 32064134-32064136, 32064141-32064146, 32064299-32064300, 32064313, 32064316-32064320, 32064331-32064336, 32064423, 32064495, 32064507-32064514, 32064632-32064634 |
| 1025 | HLA-DQA1 | 6 | 0.92317708333333 | 59 | 768 | 32609166-32609169, 32609173, 32609181, 32609189-32609192, 32609195, 32609207, 32609213, 32609216, 32609221-32609224, 32609227, 32609231, 32609236, 32609264, 32609271, 32609276-32609279, 32609286, 32609299, 32609312, 32609870, 32609873-32609874, 32609965, 32610007-32610009, 32610387-32610406, 32610436, 32610513 |
| 1026 | HLA-DQB1 | 6 | 0.63486005089059 | 287 | 786 | 32628022, 32629124-32629173, 32629761-32629767, 32629809, 32629844-32629908, 32629932-32629959, 32632608-32632647, 32632661-32632667, 32632680, 32632683, 32632687-32632738, 32632744, 32632749-32632758, 32632770, 32632777, 32632780-32632787, 32632791, 32634300-32634302, 32634306, 32634311-32634315, 32634331, 32634345-32634346 |
| 1027 | COL11A2 | 6 | 0.96622529265016 | 176 | 5211 | 33132657-33132662, 33135241-33135244, 33138112-33138119, 33138137-33138146, 33139546, 33139834, 33139838-33139840, 33139845, 33139855, 33140066-33140071, 33140080-33140081, 33140085-33140093, 33140112-33140138, 33140141-33140146, 33140352-33140358, 33140375-33140412, 33141492-33141493, 33141651, 33141681-33141702, 33141952-33141956, 33141962, 33145942-33145951, 33146883, 33147227, 33147496, 33159984, 33159987 |
| 1028 | SYNGAP1 | 6 | 0.86731150793651 | 535 | 4032 | 33388042-33388108, 33393575-33393680, 33399978-33399987, 33399997-33400008, 33400012-33400016, 33405742, 33405784, 33405787, 33405796-33405801, 33405818-33405834, 33405837, 33410271, 33410898, 33410909, 33410922-33410923, 33411140, 33411177-33411183, 33411230-33411246, 33411312, 33411456-33411462, 33411471-33411698, 33411720-33411723, 33411726, 33419579-33419615 |
| 1029 | FANCE | 6 | 0.90689013035382 | 150 | 1611 | 35420332-35420455, 35420475-35420489, 35420497-35420498, 35420537, 35420559, 35423860, 35425347, 35425358-35425361, 35426135 |
| 1030 | TULP1 | 6 | 0.97360343769184 | 43 | 1629 | 35479514-35479521, 35479529-35479550, 35479560-35479563, 35479570, 35479963, 35479990, 35479994, 35480005, 35480019, 35480039, 35480043, 35480437 |
| 1031 | MOCS1 | 6 | 0.99790685504971 | 4 | 1911 | 39874274, 39874297, 39877596, 39877632 |
| 1032 | GUCA1B | 6 | 0.99502487562189 | 3 | 603 | 42152579-42152581 |
| 1033 | PRPH2 | 6 | 0.96445725264169 | 37 | 1041 | 42672105-42672120, 42672151-42672171 |
| 1034 | PEX6 | 6 | 0.92456676860347 | 222 | 2943 | 42946086-42946087, 42946090, 42946105, 42946109, 42946355-42946361, 42946375-42946377, 42946413, 42946416-42946436, 42946453-42946464, 42946470-42946471, 42946474-42946480, 42946490, 42946523-42946528, 42946538-42946542, 42946590, 42946594-42946595, 42946601-42946721, 42946730, 42946736, 42946738-42946744, 42946747-42946749, 42946785, 42946793, 42946797-42946804, 42946808, 42946816, 42946821-42946824 |
| 1035 | CUL7 | 6 | 0.99803806160487 | 10 | 5097 | 43008760, 43008768, 43008781-43008782, 43015934-43015935, 43016144, 43020336, 43020342, 43020371 |
| 1036 | RSPH9 | 6 | 0.86883273164862 | 109 | 831 | 43612836-43612880, 43612887-43612888, 43612891-43612898, 43612903-43612929, 43612938-43612941, 43612948, 43612971-43612973, 43612985-43612992, 43613027, 43613033, 43613039-43613047 |
| 1037 | RUNX2 | 6 | 0.86781609195402 | 207 | 1566 | 45390330-45390535, 45399674 |
| 1038 | CD2AP | 6 | 0.99479166666667 | 10 | 1920 | 47471064-47471072, 47563689 |
| 1039 | MUT | 6 | 0.96316023080337 | 83 | 2253 | 49403275-49403276, 49403282, 49409576-49409601, 49409618-49409636, 49421334-49421335, 49421382-49421385, 49421423-49421442, 49423918, 49423923-49423924, 49423936-49423941 |
| 1040 | PKHD1 | 6 | 0.99566462167689 | 53 | 12225 | 51484057, 51484200-51484218, 51618109, 51768416-51768419, 51768422, 51889732-51889738, 51929753-51929771, 51929831 |
| 1041 | EYS | 6 | 0.98717541070482 | 121 | 9435 | 64430546, 64431099-64431101, 64431108, 64694420-64694428, 64940569-64940583, 65146083-65146129, 65149134-65149136, 65149162, 65523347-65523354, 65523411, 65523431, 65596662, 65707520, 66112371-66112383, 66115120-66115126, 66204615, 66204761-66204768 |
| 1042 | LMBRD1 | 6 | 0.97843499691929 | 35 | 1623 | 70410740, 70410752-70410755, 70423560-70423562, 70451735, 70506730-70506750, 70506754-70506758 |
| 1043 | COL9A1 | 6 | 0.99855386840202 | 4 | 2766 | 70981388-70981391 |
| 1044 | RIMS1 | 6 | 0.9212443394369 | 400 | 5079 | 72596747-72596753, 72678686, 72678696-72678712, 72889481-72889482, 72889485, 72889502-72889503, 72892035-72892045, 72892049-72892052, 72892061-72892073, 72892114, 72892122-72892123, 72892236, 72892239-72892240, 72892243, 72892282-72892284, 72892290-72892298, 72892309-72892310, 72892316-72892392, 72892406-72892473, 72892511-72892513, 72892518, 72892521, 72892528, 72892531, 72892548-72892549, 72892565-72892612, 72892693-72892727, 72892774-72892797, 72952086, 73001695, 73108702-73108705, 73108743-73108796 |
| 1045 | SLC17A5 | 6 | 0.93615591397849 | 95 | 1488 | 74348176, 74363516-74363609 |
| 1046 | MYO6 | 6 | 0.99922239502333 | 3 | 3858 | 76580391, 76617326, 76623850 |
| 1047 | LCA5 | 6 | 0.99522445081184 | 10 | 2094 | 80196764, 80202335-80202343 |
| 1048 | ELOVL4 | 6 | 0.94179894179894 | 55 | 945 | 80656926-80656955, 80656972-80656996 |
| 1049 | BCKDHB | 6 | 0.95928753180662 | 48 | 1179 | 80881070-80881076, 80881098-80881107, 80982857-80982887 |
| 1050 | SLC35A1 | 6 | 0.99704142011834 | 3 | 1014 | 88187224, 88210377-88210378 |
| 1051 | RARS2 | 6 | 0.99942429476108 | 1 | 1737 | 88265180 |
| 1052 | SIM1 | 6 | 0.99956540634507 | 1 | 2301 | 100868759 |
| 1053 | PDSS2 | 6 | 0.99916666666667 | 1 | 1200 | 107780274 |
| 1054 | SEC63 | 6 | 0.95575996495839 | 101 | 2283 | 108243102, 108243106-108243112, 108279090-108279092, 108279124-108279213 |
| 1055 | OSTM1 | 6 | 0.83383084577114 | 167 | 1005 | 108395463, 108395539-108395545, 108395568-108395570, 108395575-108395585, 108395588, 108395591-108395596, 108395627-108395660, 108395683-108395721, 108395738-108395760, 108395772, 108395782-108395798, 108395808-108395815, 108395831-108395840, 108395848-108395853 |
| 1056 | FIG4 | 6 | 0.99596182085169 | 11 | 2724 | 110059556, 110064439, 110064446-110064447, 110081478-110081481, 110112656, 110112665, 110146413 |
| 1057 | WISP3 | 6 | 0.9982126899017 | 2 | 1119 | 112382313, 112389426 |
| 1058 | COL10A1 | 6 | 0.99706314243759 | 6 | 2043 | 116442003-116442006, 116442365, 116446576 |
| 1059 | RSPH4A | 6 | 0.99767549976755 | 5 | 2151 | 116938047-116938051 |
| 1060 | GJA1 | 6 | 0.970409051349 | 34 | 1149 | 121768922-121768945, 121769101-121769102, 121769106-121769113 |
| 1061 | LAMA2 | 6 | 0.99327138737584 | 63 | 9363 | 129204464, 129371215-129371233, 129486812, 129513885-129513896, 129513901-129513907, 129513946-129513952, 129513964-129513973, 129635886, 129635889, 129635893, 129635899, 129635912, 129670506 |
| 1062 | ENPP1 | 6 | 0.93160547156228 | 190 | 2778 | 132129176-132129292, 132129308-132129310, 132129350-132129361, 132129368, 132129373-132129375, 132129392-132129394, 132185696, 132186074, 132186077, 132203485-132203507, 132203557-132203559, 132203568-132203569, 132203572-132203577, 132203582-132203595 |
| 1063 | EYA4 | 6 | 0.99583333333333 | 8 | 1920 | 133767838, 133769270, 133769276, 133777762, 133777768-133777770, 133777774 |
| 1064 | AHI1 | 6 | 0.99582289055973 | 15 | 3591 | 135732646-135732647, 135759549, 135759576-135759582, 135759590-135759594 |
| 1065 | PEX7 | 6 | 0.86316872427984 | 133 | 972 | 137143839-137143933, 137147568, 137167250-137167285, 137191047 |
| 1066 | PEX3 | 6 | 0.96880570409982 | 35 | 1122 | 143792098-143792116, 143792206-143792217, 143792221-143792222, 143792550, 143792575 |
| 1067 | PLAGL1 | 6 | 0.97844827586207 | 30 | 1392 | 144263243-144263247, 144263250, 144263561-144263583, 144263608 |
| 1068 | STX11 | 6 | 0.85069444444444 | 129 | 864 | 144507806-144507836, 144507945-144507975, 144508054-144508055, 144508153, 144508243-144508245, 144508354-144508374, 144508390-144508427, 144508569-144508570 |
| 1069 | EPM2A | 6 | 0.68574297188755 | 313 | 996 | 145948792-145948796, 145956420-145956426, 146056334-146056634 |
| 1070 | IYD | 6 | 0.98275862068966 | 15 | 870 | 150710527-150710538, 150713501-150713502, 150719262 |
| 1071 | SYNE1 | 6 | 0.99522618776995 | 126 | 26394 | 152451870, 152461142, 152461214, 152462441, 152477151, 152532692, 152545793-152545797, 152558015-152558055, 152560716-152560717, 152599284, 152599351, 152614793-152614800, 152623027, 152631002-152631009, 152642394, 152642399, 152644689, 152644733, 152644737, 152646290, 152665258, 152665261, 152674777-152674778, 152680559, 152694303, 152702369-152702383, 152702387-152702389, 152708398-152708399, 152728173, 152728224-152728226, 152740810, 152763273-152763279, 152763292-152763299, 152774766 |
| 1072 | PARK2 | 6 | 0.94062947067239 | 83 | 1398 | 161969931-161969991, 161970013-161970032, 162683633, 162683639 |
| 1073 | TBP | 6 | 0.92254901960784 | 79 | 1020 | 170871010-170871017, 170871021-170871037, 170871040, 170871043-170871046, 170871049, 170871056-170871066, 170871070-170871086, 170871088-170871091, 170871094-170871102, 170871106, 170871110, 170871123-170871124, 170871130, 170871144, 170871147 |
| 1074 | LFNG | 7 | 0.64298245614035 | 407 | 1140 | 2559496-2559830, 2559839, 2559846, 2559850-2559853, 2559864-2559901, 2564368, 2564891, 2565088, 2565098-2565106, 2565117-2565119, 2565122, 2565939, 2565946, 2565949-2565952, 2566006-2566010, 2566016 |
| 1075 | PMS2 | 7 | 0.9837775202781 | 42 | 2589 | 6018309, 6022475-6022497, 6038855-6038856, 6042094-6042101, 6045523-6045530 |
| 1076 | TWIST1 | 7 | 0.38752052545156 | 373 | 609 | 19156572-19156944 |
| 1077 | DNAH11 | 7 | 0.98983200707339 | 138 | 13572 | 21582932, 21582963-21582964, 21583026-21583060, 21630573-21630578, 21630620, 21630903-21630966, 21630979-21630985, 21678669, 21726759-21726773, 21788266-21788267, 21788270, 21893972-21893973, 21893993 |
| 1078 | FAM126A | 7 | 0.99425287356322 | 9 | 1566 | 23000873, 23016960-23016965, 23017905-23017906 |
| 1079 | KLHL7 | 7 | 0.99659284497445 | 6 | 1761 | 23205520-23205522, 23205529, 23205534-23205535 |
| 1080 | DFNA5 | 7 | 0.99128101945003 | 13 | 1491 | 24742429, 24742432-24742436, 24742440-24742442, 24758795, 24784260-24784262 |
| 1081 | HOXA1 | 7 | 0.98214285714286 | 18 | 1008 | 27135376-27135380, 27135391-27135397, 27135403-27135406, 27135413-27135414 |
| 1082 | HOXA13 | 7 | 0.55612682090831 | 518 | 1167 | 27239083-27239095, 27239099, 27239110-27239114, 27239143, 27239175, 27239200-27239696 |
| 1083 | GARS | 7 | 0.98963963963964 | 23 | 2220 | 30634578-30634590, 30634593-30634595, 30634600, 30634652, 30634655, 30634661, 30634701, 30634722, 30640743 |
| 1084 | GHRHR | 7 | 0.99764150943396 | 3 | 1272 | 31008473-31008475 |
| 1085 | RP9 | 7 | 0.76126126126126 | 159 | 666 | 33134994-33134995, 33136953-33136957, 33148833-33148984 |
| 1086 | BBS9 | 7 | 0.98611111111111 | 37 | 2664 | 33185872, 33303920-33303953, 33313555, 33573767 |
| 1087 | TXNDC3 | 7 | 0.99434069043577 | 10 | 1767 | 37916444-37916449, 37934207-37934210 |
| 1088 | GLI3 | 7 | 0.94138730761122 | 278 | 4743 | 42005043, 42005105, 42005123, 42005154, 42005207-42005209, 42005233-42005239, 42005253, 42005276-42005279, 42005290, 42005295, 42005451, 42005535, 42005545-42005547, 42005567-42005613, 42005621-42005630, 42005717-42005741, 42005787-42005858, 42005871-42005875, 42005890-42005902, 42005929, 42005935, 42005956-42005962, 42006018-42006019, 42006025-42006043, 42006081-42006124, 42012029, 42064954, 42064957, 42065930, 42187898-42187899 |
| 1089 | GCK | 7 | 0.98929336188437 | 15 | 1401 | 44185212-44185216, 44185236-44185240, 44191873, 44192923-44192926 |
| 1090 | CCM2 | 7 | 0.9752808988764 | 33 | 1335 | 45039933-45039962, 45077978-45077980 |
| 1091 | DDC | 7 | 0.97851697851698 | 31 | 1443 | 50597002-50597032 |
| 1092 | GRB10 | 7 | 0.99887955182073 | 2 | 1785 | 50682559-50682560 |
| 1093 | EGFR | 7 | 0.96559317368566 | 125 | 3633 | 55086971-55087058, 55214372-55214378, 55214393, 55214407, 55220261, 55220267-55220268, 55220271-55220285, 55220289-55220294, 55220297, 55220300, 55240788, 55273039 |
| 1094 | GUSB | 7 | 0.97137014314928 | 56 | 1956 | 65446961-65446980, 65446990-65447025 |
| 1095 | ASL | 7 | 0.97992831541219 | 28 | 1395 | 65551808, 65554078-65554083, 65554097, 65554103, 65554113-65554118, 65554133, 65554136, 65554141-65554144, 65554277-65554278, 65554281, 65554284, 65554293, 65554299, 65554310 |
| 1096 | KCTD7 | 7 | 0.83448275862069 | 144 | 870 | 66094052-66094195 |
| 1097 | SBDS | 7 | 0.99070385126162 | 7 | 753 | 66456158-66456164 |
| 1098 | NCF1 | 7 | 0.91757575757576 | 68 | 825 | 72639982-72639989, 72640033-72640039, 72643704-72643723, 72644230-72644245, 72648734-72648750 |
| 1099 | ELN | 7 | 0.96275862068966 | 81 | 2175 | 73442518, 73442523-73442548, 73442561-73442577, 73449694-73449700, 73456983, 73462845-73462851, 73466275-73466278, 73466284-73466294, 73467503-73467505, 73471985-73471987, 73480276 |
| 1100 | NCF1 | 7 | 0.75873827791986 | 283 | 1173 | 74188399-74188405, 74193624-74193645, 74193664-74193672, 74197911-74197917, 74202421-74202432, 74202911-74202956, 74202967-74202979, 74202987-74203048, 74203383-74203404, 74203412-74203419, 74203430-74203504 |
| 1101 | POR | 7 | 0.92511013215859 | 153 | 2043 | 75614211-75614244, 75614265-75614270, 75614384-75614410, 75614420-75614491, 75614523-75614525, 75615159-75615161, 75615271-75615278 |
| 1102 | HSPB1 | 7 | 0.73948220064725 | 161 | 618 | 75932041-75932047, 75932061-75932062, 75932066-75932067, 75932171-75932181, 75932190, 75932193-75932196, 75932238-75932244, 75932251-75932327, 75932343-75932344, 75932352-75932363, 75932369-75932385, 75932389-75932392, 75933301-75933315 |
| 1103 | CD36 | 7 | 0.99013389711064 | 14 | 1419 | 80302116, 80303395-80303404, 80303459-80303460, 80303463 |
| 1104 | HGF | 7 | 0.96753543667124 | 71 | 2187 | 81388072, 81388088-81388095, 81388101-81388105, 81399225-81399272, 81399279-81399287 |
| 1105 | ABCB4 | 7 | 0.9890625 | 42 | 3840 | 87031472-87031495, 87037380, 87037417-87037427, 87037460, 87047853-87047856, 87069084 |
| 1106 | AKAP9 | 7 | 0.99078812691914 | 108 | 11724 | 91609612-91609642, 91645560-91645567, 91651594-91651607, 91682222, 91690655, 91714898-91714914, 91714920-91714926, 91722471-91722492, 91727449-91727453, 91731986-91731987 |
| 1107 | KRIT1 | 7 | 0.97829036635007 | 48 | 2211 | 91852180, 91852184-91852185, 91852191, 91852227, 91855893, 91867017-91867057, 91867069 |
| 1108 | PEX1 | 7 | 0.98805815160955 | 46 | 3852 | 92119154-92119157, 92122421, 92134099, 92134107-92134113, 92134123-92134124, 92134128-92134129, 92134132-92134136, 92140302, 92140977-92140984, 92141007-92141009, 92157621-92157627, 92157640, 92157643, 92157647-92157648, 92157653 |
| 1109 | COL1A2 | 7 | 0.98439405023165 | 64 | 4101 | 94030898-94030899, 94030919-94030920, 94037652, 94049545-94049555, 94049566, 94049569, 94049572-94049573, 94049576-94049577, 94049886, 94049919-94049938, 94049950, 94055337, 94056349, 94058694, 94058702-94058711, 94058718, 94058721-94058726 |
| 1110 | SGCE | 7 | 0.97713864306785 | 31 | 1356 | 94248114, 94252653, 94252656, 94252689-94252709, 94259069, 94259076, 94285329-94285331, 94285334-94285335 |
| 1111 | SLC25A13 | 7 | 0.99015263417036 | 20 | 2031 | 95751289-95751306, 95951267-95951268 |
| 1112 | TFR2 | 7 | 0.93474646716542 | 157 | 2406 | 100218631-100218650, 100218655-100218666, 100224480-100224526, 100224954-100224961, 100224972-100224983, 100228633-100228636, 100230657, 100230663, 100230670, 100230673, 100230685, 100230719-100230720, 100230905, 100231109-100231118, 100231124-100231125, 100231128-100231129, 100231132, 100238636, 100238640-100238644, 100238647-100238650, 100238655, 100238701-100238708, 100239121-100239132 |
| 1113 | SLC26A5 | 7 | 0.9834451901566 | 37 | 2235 | 103014976-103014977, 103015002, 103017259-103017261, 103017265-103017272, 103017281-103017285, 103017298-103017309, 103029484-103029488, 103050917 |
| 1114 | RELN | 7 | 0.99248337669847 | 78 | 10377 | 103136258, 103136291, 103155723, 103155726-103155728, 103162533-103162539, 103191622, 103191625-103191629, 103234903-103234904, 103234909, 103234915, 103236984-103236989, 103244828-103244837, 103244843-103244845, 103244853-103244854, 103244910, 103341411-103341414, 103417013-103417025, 103417028, 103629723-103629724, 103629730, 103629733-103629736, 103629772-103629775, 103629800-103629803 |
| 1115 | SLC26A4 | 7 | 0.99615877080666 | 9 | 2343 | 107302095-107302096, 107315470, 107355870-107355875 |
| 1116 | SLC26A3 | 7 | 0.99782135076253 | 5 | 2295 | 107432275, 107432284, 107432354-107432355, 107432366 |
| 1117 | DLD | 7 | 0.99869281045752 | 2 | 1530 | 107555974, 107555983 |
| 1118 | IFRD1 | 7 | 0.95870206489676 | 56 | 1356 | 112090793-112090837, 112101965-112101971, 112102169-112102172 |
| 1119 | MET | 7 | 0.99976036424635 | 1 | 4173 | 116340124 |
| 1120 | CFTR | 7 | 0.96218771100608 | 168 | 4443 | 117120188, 117188713-117188753, 117188760-117188800, 117188847-117188877, 117199666-117199672, 117232049, 117235036-117235052, 117235065-117235090, 117246759, 117250636, 117306999 |
| 1121 | AASS | 7 | 0.99640417116145 | 10 | 2781 | 121719693, 121755153, 121755193-121755194, 121769463, 121769474, 121769488-121769489, 121769526, 121769552 |
| 1122 | PAX4 | 7 | 0.99612403100775 | 4 | 1032 | 127251673-127251676 |
| 1123 | LEP | 7 | 0.98611111111111 | 7 | 504 | 127894800-127894806 |
| 1124 | IMPDH1 | 7 | 0.86333333333333 | 246 | 1800 | 128035311, 128045821-128045919, 128049810-128049955 |
| 1125 | FLNC | 7 | 0.99192956713133 | 66 | 8178 | 128470692, 128470723-128470724, 128470769, 128470873-128470875, 128470879, 128470886-128470891, 128470904, 128470907-128470912, 128477279-128477282, 128477292-128477297, 128477539-128477541, 128477544, 128477547, 128477550, 128482662, 128482745, 128489398-128489400, 128492770-128492771, 128494159-128494163, 128494170-128494177, 128494183-128494189, 128494269-128494270 |
| 1126 | ATP6V0A4 | 7 | 0.98374950455807 | 41 | 2523 | 138394372-138394373, 138394379-138394384, 138394387, 138394393-138394395, 138394400-138394405, 138394493-138394511, 138394521-138394523, 138437416 |
| 1127 | BRAF | 7 | 0.961321164711 | 89 | 2301 | 140453170, 140477805, 140477809, 140494186-140494191, 140494198-140494200, 140507771-140507777, 140549941, 140624397, 140624400, 140624403-140624416, 140624421-140624430, 140624446, 140624462-140624503 |
| 1128 | PRSS1 | 7 | 0.79704301075269 | 151 | 744 | 142458406-142458454, 142459625-142459629, 142459664-142459682, 142459833, 142460313, 142460335, 142460339, 142460366-142460397, 142460741-142460782 |
| 1129 | CLCN1 | 7 | 0.98483316481294 | 45 | 2967 | 143013455-143013456, 143017827, 143018550, 143039026, 143039029-143039033, 143042691-143042694, 143042697-143042699, 143042777-143042780, 143043307-143043314, 143043316-143043330, 143043714 |
| 1130 | CNTNAP2 | 7 | 0.98098098098098 | 76 | 3996 | 145813973-145813988, 145813992, 145813994-145813995, 145813997-145814002, 145814006-145814008, 145814014, 145814031-145814039, 146471410, 146741005, 146741126, 146825822-146825823, 146825827, 146825841, 147092799, 147844707, 147844728, 147844742, 147914481-147914485, 147914520-147914541 |
| 1131 | KCNH2 | 7 | 0.71896551724138 | 978 | 3480 | 150644419-150644420, 150644431, 150644441-150644442, 150644464-150644472, 150644480-150644486, 150644489, 150644543-150644550, 150644559-150644576, 150644580-150644590, 150644596-150644602, 150644694-150644833, 150644883-150644886, 150644891-150644892, 150644895, 150644911, 150644914-150644926, 150644930-150644935, 150644938-150644940, 150645533-150645568, 150645577-150645608, 150648671-150648673, 150648878, 150648891-150648893, 150648898-150648900, 150648903, 150648908, 150648920, 150649718-150649719, 150655147-150655166, 150655209-150655522, 150655529-150655564, 150671808-150672019, 150672029, 150674926-150675001 |
| 1132 | PRKAG2 | 7 | 0.95906432748538 | 70 | 1710 | 151329155-151329224 |
| 1133 | SHH | 7 | 0.57235421166307 | 594 | 1389 | 155595594-155596159, 155596191-155596214, 155596303-155596306 |
| 1134 | MNX1 | 7 | 0.27777777777778 | 871 | 1206 | 156798214-156798417, 156798429-156798435, 156798442-156798470, 156798474, 156798494, 156798561-156798567, 156799258-156799301, 156799317-156799323, 156802374-156802381, 156802389, 156802400-156802402, 156802405-156802407, 156802435-156802442, 156802452, 156802459-156802463, 156802466-156802479, 156802484, 156802487, 156802501, 156802504, 156802521-156803044 |
| 1135 | CLN8 | 8 | 0.98722415795587 | 11 | 861 | 1728477-1728484, 1728706, 1728712, 1728717 |
| 1136 | MCPH1 | 8 | 0.98883572567783 | 28 | 2508 | 6264189-6264210, 6338358, 6479007-6479011 |
| 1137 | GATA4 | 8 | 0.59894657637321 | 533 | 1329 | 11565841-11565869, 11565878-11565937, 11565943-11566370, 11566384-11566386, 11566393, 11566396-11566400, 11566407, 11607687-11607692 |
| 1138 | TUSC3 | 8 | 0.83954154727794 | 168 | 1047 | 15397940-15398075, 15480615-15480640, 15480675-15480679, 15601063 |
| 1139 | ASAH1 | 8 | 0.99494949494949 | 6 | 1188 | 17915075, 17924734, 17924739, 17941521-17941523 |
| 1140 | LPL | 8 | 0.99649859943978 | 5 | 1428 | 19810866-19810868, 19810875, 19810878 |
| 1141 | NEFL | 8 | 0.92218137254902 | 127 | 1632 | 24813132-24813140, 24813143-24813144, 24813149-24813152, 24813156-24813169, 24813177, 24813230-24813232, 24813412-24813413, 24813416-24813437, 24813443, 24813497-24813505, 24813519, 24813524-24813527, 24813581, 24813586, 24813590, 24813593-24813603, 24813653, 24813656-24813665, 24813668, 24813672-24813677, 24813682-24813701, 24813704, 24813710, 24813713 |
| 1142 | CHRNA2 | 8 | 0.99433962264151 | 9 | 1590 | 27320602-27320604, 27320643, 27321073-27321075, 27321169, 27321269 |
| 1143 | ESCO2 | 8 | 0.99612403100775 | 7 | 1806 | 27633930-27633932, 27633992, 27646420-27646421, 27650277 |
| 1144 | ADAM9 | 8 | 0.98252032520325 | 43 | 2460 | 38854641-38854646, 38854651-38854661, 38854669-38854678, 38876421-38876423, 38880779, 38959404, 38959419, 38959426-38959435 |
| 1145 | ANK1 | 8 | 0.97646645591851 | 134 | 5694 | 41530223, 41552201, 41553921, 41583331-41583333, 41583441, 41583444, 41753873-41753998 |
| 1146 | THAP1 | 8 | 0.97196261682243 | 18 | 642 | 42693205-42693209, 42693214-42693218, 42693235-42693240, 42693243-42693244 |
| 1147 | HGSNAT | 8 | 0.93815513626834 | 118 | 1908 | 42995640-42995757 |
| 1148 | RP1 | 8 | 0.99690928759079 | 20 | 6471 | 55533624, 55533629-55533631, 55533649-55533659, 55533902-55533904, 55533926, 55537294 |
| 1149 | CHD7 | 8 | 0.99610851678897 | 35 | 8994 | 61734386, 61734583-61734591, 61749499, 61764671-61764677, 61777672-61777676, 61777687, 61777695-61777700, 61777852-61777854, 61777869, 61778102 |
| 1150 | TTPA | 8 | 0.79091995221027 | 175 | 837 | 63998382, 63998387, 63998393, 63998409-63998580 |
| 1151 | CYP7B1 | 8 | 0.922419460881 | 118 | 1521 | 65527658, 65527666, 65527669, 65527681, 65528473, 65528587-65528595, 65528666, 65528749, 65528754, 65711030-65711033, 65711036-65711039, 65711052-65711144 |
| 1152 | TMEM70 | 8 | 0.90676883780332 | 73 | 783 | 74888517-74888525, 74888541-74888571, 74888595, 74888598, 74888600-74888604, 74888610-74888618, 74888640-74888648, 74888689-74888696 |
| 1153 | GDAP1 | 8 | 0.99907149489322 | 1 | 1077 | 75276279 |
| 1154 | CA2 | 8 | 0.95657726692209 | 34 | 783 | 86376311-86376344 |
| 1155 | CNGB3 | 8 | 0.99835390946502 | 4 | 2430 | 87591070, 87591464, 87679302-87679303 |
| 1156 | NBN | 8 | 0.99337748344371 | 15 | 2265 | 90947822-90947829, 90960113, 90996761-90996766 |
| 1157 | DECR1 | 8 | 0.99900793650794 | 1 | 1008 | 91057177 |
| 1158 | TMEM67 | 8 | 0.99230254350736 | 23 | 2988 | 94770757, 94777832, 94777836, 94777846, 94777852, 94793110-94793112, 94793141, 94794638, 94811925-94811929, 94811942, 94811945, 94827590, 94828603, 94828606, 94828629-94828631 |
| 1159 | GDF6 | 8 | 0.44883040935673 | 754 | 1368 | 97156946, 97156996-97156997, 97157037-97157039, 97157097-97157099, 97157151-97157466, 97157472-97157679, 97157734-97157737, 97157746-97157751, 97172564-97172576, 97172668-97172695, 97172698-97172701, 97172713-97172714, 97172744-97172780, 97172786-97172848, 97172857-97172920 |
| 1160 | VPS13B | 8 | 0.99408037352009 | 71 | 11994 | 100050675-100050681, 100050752, 100123385-100123393, 100123398-100123405, 100123412-100123413, 100123458-100123494, 100123504-100123507, 100513925, 100513928, 100831088 |
| 1161 | GRHL2 | 8 | 0.99627263045793 | 7 | 1878 | 102555604-102555610 |
| 1162 | RRM2B | 8 | 0.99905303030303 | 1 | 1056 | 103238213 |
| 1163 | DPYS | 8 | 0.83076923076923 | 264 | 1560 | 105478885-105479148 |
| 1164 | TRPS1 | 8 | 0.9966537966538 | 13 | 3885 | 116599445-116599456, 116599462 |
| 1165 | TNFRSF11B | 8 | 0.99917081260365 | 1 | 1206 | 119938782 |
| 1166 | KIAA0196 | 8 | 0.99913793103448 | 3 | 3480 | 126073355, 126085406-126085407 |
| 1167 | KCNQ3 | 8 | 0.92936235204276 | 185 | 2619 | 133492561, 133492566-133492574, 133492576-133492620, 133492625, 133492628, 133492634-133492635, 133492642-133492646, 133492659-133492779 |
| 1168 | TG | 8 | 0.99759239195859 | 20 | 8307 | 133879248-133879249, 133879262-133879265, 133879274, 133882071, 133900637-133900644, 133912572, 133920562, 134031851, 134034385 |
| 1169 | NDRG1 | 8 | 0.99831223628692 | 2 | 1185 | 134251218, 134274315 |
| 1170 | CYP11B1 | 8 | 0.90674603174603 | 141 | 1512 | 143956374-143956396, 143956406-143956430, 143956534-143956542, 143957129, 143957142-143957143, 143957209-143957236, 143958475, 143958513-143958533, 143958572-143958602 |
| 1171 | CYP11B2 | 8 | 0.91071428571429 | 135 | 1512 | 143993946-143993977, 143993983-143993985, 143993988, 143994026-143994032, 143994057-143994089, 143994099-143994109, 143994701-143994702, 143994706, 143996536-143996556, 143998608-143998630, 143999128 |
| 1172 | PLEC | 8 | 0.68402703664176 | 4441 | 14055 | 144990356-144990359, 144990368-144990369, 144990379, 144990403, 144990408, 144990412, 144990469-144990519, 144990525-144990548, 144990594-144990638, 144990737-144990777, 144990814-144990838, 144990871-144990877, 144991176, 144991576-144991582, 144991838, 144991855, 144991861, 144991864-144991868, 144991964-144992000, 144992074, 144992078-144992079, 144992083-144992085, 144992174, 144992249-144992275, 144992378-144992387, 144992407-144992417, 144992548-144992585, 144992594-144992627, 144992687, 144992706, 144992720, 144992724-144992726, 144992792-144992795, 144992811-144992816, 144992821, 144992828-144992832, 144992943-144992978, 144993056, 144993377, 144993383-144993387, 144993407-144993412, 144993554-144993557, 144993583-144993584, 144993590-144993598, 144993705-144993742, 144993813-144993834, 144993916-144993922, 144993927-144993947, 144994025, 144994028, 144994063-144994075, 144994349-144994353, 144994373-144994375, 144994381-144994403, 144994407-144994412, 144994450-144994485, 144994508-144994517, 144994806-144994809, 144994956-144994963, 144994979-144995018, 144995042, 144995054-144995057, 144995060-144995062, 144995159-144995166, 144995349-144995383, 144995483-144995515, 144995544, 144995579, 144995583-144995587, 144995672-144995719, 144995732-144995762, 144995780, 144995786-144995787, 144995791, 144995795-144995808, 144995813-144995824, 144995831, 144995847-144995849, 144995889-144995907, 144995957-144995980, 144996029, 144996034, 144996040, 144996043, 144996064-144996065, 144996163-144996165, 144996171-144996177, 144996180, 144996185-144996193, 144996203-144996212, 144996220-144996295, 144996374-144996379, 144996383-144996384, 144996387-144996388, 144996401, 144996408, 144996469-144996471, 144996505-144996508, 144996514-144996515, 144996517-144996549, 144996677-144996710, 144996754-144996760, 144996763, 144996773-144996775, 144996779-144996784, 144996820-144996840, 144996859-144996890, 144996959, 144996993-144997022, 144997065-144997106, 144997184, 144997190-144997192, 144997208-144997212, 144997214, 144997223-144997229, 144997237, 144997240, 144997251-144997262, 144997309-144997320, 144997373, 144997400-144997406, 144997430-144997432, 144997435, 144997439-144997444, 144997468-144997546, 144997559-144997589, 144997623, 144997627-144997634, 144997645, 144997656-144997669, 144997677-144997705, 144997745-144997814, 144997823-144998041, 144998057-144998065, 144998073-144998115, 144998125, 144998128-144998131, 144998144-144998313, 144998329-144998406, 144998414-144998428, 144998442-144998516, 144998529-144999706, 144999723-144999728, 144999738-144999867, 144999874-144999884, 144999889, 144999905-144999921, 144999955-144999958, 144999961-144999987, 144999997, 145000008-145000023, 145000030-145000052, 145001200, 145001493-145001499, 145001502, 145001588, 145001619-145001628, 145001677-145001684, 145001712, 145001721, 145001724-145001734, 145001772, 145001784-145001788, 145001834-145001837, 145001840-145001847, 145001882-145001916, 145002060, 145002070, 145003277, 145003309-145003363, 145003372-145003414, 145003582-145003585, 145003591-145003636, 145003656-145003685, 145003814-145003855, 145003864, 145003870-145003871, 145003896-145003913, 145003931-145003979, 145004160, 145004224-145004230, 145004312-145004314, 145004324-145004330, 145004341-145004359, 145004372-145004401, 145004458, 145004462-145004463, 145004581-145004606, 145004616-145004638, 145005720-145005728, 145006155, 145006167-145006171, 145006181-145006200, 145006298-145006349, 145006358, 145006375-145006402, 145006581-145006582, 145006585, 145006589-145006591, 145006595-145006602, 145006606, 145006690-145006696, 145006726, 145006803-145006805, 145006810-145006811, 145006814-145006815, 145006976, 145007110, 145007120, 145007150-145007155, 145007163-145007190, 145008166-145008184, 145008259, 145009063-145009094, 145024370-145024374, 145024573-145024575, 145024578-145024579, 145024586-145024590, 145024596, 145024723, 145024775-145024779, 145024808-145024847, 145024856-145024874 |
| 1173 | GPT | 8 | 0.78672032193159 | 318 | 1491 | 145730656-145730658, 145730661-145730663, 145730715-145730742, 145730816, 145730819, 145730871-145730872, 145731231-145731310, 145731449, 145731452, 145731457-145731480, 145731488, 145731508-145731514, 145731654-145731696, 145731703-145731725, 145731886-145731893, 145731899, 145731906, 145731913-145731932, 145731938, 145731941, 145731943-145731944, 145731999-145732039, 145732122, 145732319-145732342 |
| 1174 | RECQL4 | 8 | 0.86104218362283 | 504 | 3627 | 145737387-145737432, 145738282, 145738321, 145738325-145738343, 145738350-145738357, 145738506-145738509, 145738629-145738670, 145738684-145738694, 145738733-145738755, 145738768, 145738955-145739019, 145739074-145739096, 145739398-145739431, 145739446-145739452, 145739692, 145741982-145741986, 145741991-145742002, 145742500-145742505, 145742798-145742862, 145742871-145742879, 145742890-145742892, 145742986-145743019, 145743085-145743168 |
| 1175 | DOCK8 | 9 | 0.98396825396825 | 101 | 6300 | 214977-215029, 332427-332439, 371519, 371538, 377128-377134, 379824-379828, 382566-382575, 386331-386332, 429778, 433966, 433969, 439371, 452063-452067 |
| 1176 | VLDLR | 9 | 0.96834477498093 | 83 | 2622 | 2622190-2622271, 2652945 |
| 1177 | KCNV2 | 9 | 0.89255189255189 | 176 | 1638 | 2718010-2718030, 2718113, 2718243-2718248, 2718307-2718350, 2718400-2718404, 2718407, 2718463-2718464, 2718469, 2718597-2718618, 2718692, 2718728, 2718735-2718741, 2718767, 2718785-2718794, 2718930-2718979, 2718992-2718994 |
| 1178 | GLIS3 | 9 | 0.91836734693878 | 228 | 2793 | 3856050, 4117830-4117852, 4117936-4117942, 4117968-4117986, 4118039-4118044, 4118099-4118135, 4118176-4118216, 4118224, 4118228-4118233, 4118244-4118276, 4118309-4118329, 4118351-4118355, 4118363-4118372, 4118381-4118382, 4118407-4118416, 4118448-4118449, 4118453, 4118463-4118464, 4118469 |
| 1179 | SLC1A1 | 9 | 0.99111111111111 | 14 | 1575 | 4490750-4490756, 4490760, 4490765-4490770 |
| 1180 | JAK2 | 9 | 0.99029126213592 | 33 | 3399 | 5066756-5066759, 5077469-5077475, 5077478-5077484, 5077487, 5077495-5077499, 5077507, 5077525-5077527, 5077576-5077580 |
| 1181 | GLDC | 9 | 0.96212863206007 | 116 | 3063 | 6645358-6645391, 6645395-6645406, 6645418, 6645421, 6645423-6645490 |
| 1182 | CDKN2A | 9 | 0.84925690021231 | 71 | 471 | 21971019, 21971164, 21971175-21971176, 21971180-21971182, 21974715-21974740, 21974755-21974792 |
| 1183 | CDKN2A | 9 | 0.85632183908046 | 75 | 522 | 21971019, 21971164, 21971175-21971176, 21971180-21971182, 21994151, 21994212, 21994215, 21994221-21994222, 21994225, 21994321-21994338, 21994352-21994395 |
| 1184 | TOPORS | 9 | 0.99012109623964 | 31 | 3138 | 32550784, 32550787-32550808, 32550815-32550818, 32550826, 32550935, 32550959-32550960 |
| 1185 | APTX | 9 | 0.99319727891156 | 7 | 1029 | 32973532, 32973552-32973557 |
| 1186 | B4GALT1 | 9 | 0.86382623224728 | 163 | 1197 | 33166872-33166884, 33166908-33166939, 33166952, 33166965-33166967, 33166980-33166981, 33166992-33167039, 33167077-33167090, 33167097, 33167100-33167106, 33167114-33167125, 33167128-33167130, 33167136-33167142, 33167148-33167167 |
| 1187 | DNAI1 | 9 | 0.99714285714286 | 6 | 2100 | 34491539-34491544 |
| 1188 | GALT | 9 | 0.98947368421053 | 12 | 1140 | 34646755, 34646759, 34647545-34647547, 34647558-34647564 |
| 1189 | VCP | 9 | 0.99958694754234 | 1 | 2421 | 35061119 |
| 1190 | FANCG | 9 | 0.98234349919743 | 33 | 1869 | 35074400, 35075030-35075033, 35076014, 35076754, 35079196-35079213, 35079218-35079225 |
| 1191 | TPM2 | 9 | 0.99883040935673 | 1 | 855 | 35685670 |
| 1192 | NPR2 | 9 | 0.99713740458015 | 9 | 3144 | 35792452, 35792651-35792657, 35807113 |
| 1193 | GNE | 9 | 0.99646330680813 | 8 | 2262 | 36217411, 36217416-36217418, 36217425, 36217437, 36217460, 36233995 |
| 1194 | GRHPR | 9 | 0.99898682877406 | 1 | 987 | 37428528 |
| 1195 | FXN | 9 | 0.78357030015798 | 137 | 633 | 71650717-71650762, 71650776-71650863, 71668104-71668105, 71687604 |
| 1196 | TMC1 | 9 | 0.9951817783618 | 11 | 2283 | 75315449, 75369759, 75403384, 75450872-75450879 |
| 1197 | TRPM6 | 9 | 0.99340912835723 | 40 | 6069 | 77401018-77401025, 77411674, 77411680, 77454960-77454989 |
| 1198 | VPS13A | 9 | 0.98236220472441 | 168 | 9525 | 79792655, 79820233-79820236, 79820898, 79820917-79820919, 79820930-79820933, 79820960, 79841415-79841420, 79841431-79841441, 79841480-79841483, 79841493-79841496, 79841510, 79843073-79843075, 79875070, 79891042, 79896801, 79896835, 79896838-79896842, 79908356, 79908366, 79908372, 79908419-79908421, 79910516-79910517, 79930317, 79930320-79930321, 79931210-79931214, 79931224, 79931235-79931241, 79931249-79931254, 79932522-79932543, 79933151-79933170, 79934488-79934498, 79936156, 79937983-79937990, 79952241-79952242, 79952247-79952248, 79952253-79952254, 79974315, 79996909, 79996913-79996914, 79996919-79996932 |
| 1199 | AUH | 9 | 0.92156862745098 | 80 | 1020 | 94087618-94087625, 94124084, 94124094-94124095, 94124098, 94124104-94124171 |
| 1200 | ROR2 | 9 | 0.96468926553672 | 100 | 2832 | 94486010, 94486084, 94486393-94486401, 94486688, 94486819, 94488888-94488890, 94495405-94495428, 94495587, 94495590-94495598, 94495608, 94495618-94495621, 94495716-94495718, 94712185-94712187, 94712207-94712245 |
| 1201 | SPTLC1 | 9 | 0.9929676511955 | 10 | 1422 | 94871107-94871116 |
| 1202 | FANCC | 9 | 0.99880739415623 | 2 | 1677 | 97873784, 97897745 |
| 1203 | PTCH1 | 9 | 0.93070902394107 | 301 | 4344 | 98209527-98209530, 98209623, 98209630, 98209670, 98209692, 98220364-98220368, 98239907-98239910, 98268689-98268776, 98268851-98268881, 98270466-98270516, 98270525-98270535, 98270541-98270643 |
| 1204 | XPA | 9 | 0.97931873479319 | 17 | 822 | 100451858, 100459431, 100459434-100459448 |
| 1205 | FOXE1 | 9 | 0.14081996434938 | 964 | 1122 | 100616197-100617158, 100617183-100617184 |
| 1206 | TGFBR1 | 9 | 0.93452380952381 | 99 | 1512 | 101867488-101867584, 101908767-101908768 |
| 1207 | ALG2 | 9 | 0.94164668265388 | 73 | 1251 | 101980225, 101983910-101983955, 101984061-101984072, 101984074-101984077, 101984089-101984097, 101984175 |
| 1208 | INVS | 9 | 0.97967479674797 | 65 | 3198 | 102988367-102988373, 102988437-102988461, 103015356-103015359, 103046714-103046717, 103046726-103046740, 103046747-103046756 |
| 1209 | ALDOB | 9 | 0.99817351598174 | 2 | 1095 | 104187203, 104189766 |
| 1210 | ABCA1 | 9 | 0.99852637783672 | 10 | 6786 | 107553250-107553256, 107556790-107556791, 107576470 |
| 1211 | FKTN | 9 | 0.98629148629149 | 19 | 1386 | 108337354-108337357, 108370210-108370212, 108380320-108380331 |
| 1212 | MUSK | 9 | 0.99348659003831 | 17 | 2610 | 113449486, 113530275, 113530288-113530291, 113530302, 113547809-113547810, 113547814, 113547857-113547863 |
| 1213 | DFNB31 | 9 | 0.90895741556535 | 248 | 2724 | 117186727, 117186730, 117186737-117186746, 117266685-117266708, 117266752, 117266783, 117266808-117266902, 117266916-117266922, 117266934-117266937, 117266940, 117266945-117266953, 117266965-117267044, 117267052-117267063, 117267070, 117267079 |
| 1214 | CDK5RAP2 | 9 | 0.99454417458641 | 31 | 5682 | 123163097-123163103, 123171418-123171424, 123199732-123199738, 123253655-123253663, 123342206 |
| 1215 | GSN | 9 | 0.9416773094934 | 137 | 2349 | 124062144-124062280 |
| 1216 | NR5A1 | 9 | 0.83838383838384 | 224 | 1386 | 127245147-127245182, 127255400-127255401, 127255405, 127262458-127262461, 127262608, 127262775-127262776, 127262780-127262782, 127262787, 127262790, 127262855, 127265358, 127265367-127265377, 127265387-127265429, 127265440, 127265450-127265456, 127265460, 127265463-127265471, 127265473-127265485, 127265490-127265495, 127265573-127265603, 127265610-127265643, 127265652-127265662, 127265668, 127265672-127265674 |
| 1217 | LMX1B | 9 | 0.75335120643432 | 276 | 1119 | 129376836, 129376839, 129376857, 129377662-129377848, 129455587, 129456028-129456079, 129456089-129456090, 129458140, 129458168-129458180, 129458188-129458192, 129458216-129458222, 129458227, 129458230-129458233 |
| 1218 | STXBP1 | 9 | 0.97958057395143 | 37 | 1812 | 130374683-130374719 |
| 1219 | ENG | 9 | 0.97268588770865 | 54 | 1977 | 130578038, 130616573-130616614, 130616621-130616631 |
| 1220 | GLE1 | 9 | 0.98712446351931 | 27 | 2097 | 131267155-131267166, 131267170, 131267178, 131287653, 131289735-131289746 |
| 1221 | DOLK | 9 | 0.99257884972171 | 12 | 1617 | 131709015-131709022, 131709033-131709034, 131709552-131709553 |
| 1222 | TOR1A | 9 | 0.88888888888889 | 111 | 999 | 132586187-132586191, 132586210-132586218, 132586259-132586295, 132586301-132586360 |
| 1223 | ASS1 | 9 | 0.99354317998386 | 8 | 1239 | 133327618-133327625 |
| 1224 | POMT1 | 9 | 0.98760330578512 | 27 | 2178 | 134382789-134382812, 134394827, 134394834, 134394837 |
| 1225 | SETX | 9 | 0.99178491411501 | 66 | 8034 | 135139872-135139896, 135139901, 135140212, 135153545-135153552, 135153561-135153567, 135153578-135153579, 135153604-135153606, 135158736-135158737, 135187148-135187151, 135187159-135187163, 135203588-135203595 |
| 1226 | TTF1 | 9 | 0.99889624724062 | 3 | 2718 | 135263553-135263555 |
| 1227 | TSC1 | 9 | 0.99914163090129 | 3 | 3495 | 135771934, 135802623, 135802630 |
| 1228 | CEL | 9 | 0.79480405107882 | 466 | 2271 | 135944521-135944527, 135944583-135944589, 135945994-135946018, 135946486-135946489, 135946590-135946592, 135946597-135946599, 135946628-135947044 |
| 1229 | SURF1 | 9 | 0.87596899224806 | 112 | 903 | 136221779-136221785, 136223125-136223175, 136223276-136223329 |
| 1230 | ADAMTS13 | 9 | 0.93534080298786 | 277 | 4284 | 136287665-136287666, 136293754-136293891, 136295059-136295079, 136295110-136295119, 136295171, 136295174, 136295177-136295181, 136295203-136295209, 136295212, 136295217, 136295221, 136298547, 136301949-136301975, 136301996-136302031, 136302047-136302067, 136302074-136302075, 136308669, 136308677 |
| 1231 | DBH | 9 | 0.94714131607335 | 98 | 1854 | 136522234-136522249, 136522254-136522262, 136522274-136522310, 136522337-136522351, 136523489-136523495, 136523499-136523502, 136523529, 136523535-136523543 |
| 1232 | SARDH | 9 | 0.96880667392093 | 86 | 2757 | 136535736-136535746, 136535751-136535758, 136535765, 136550385, 136550388, 136561474, 136573412, 136573514, 136597672-136597723, 136599266, 136599271, 136599289-136599295 |
| 1233 | COL5A1 | 9 | 0.97716150081566 | 126 | 5517 | 137534034-137534142, 137623485-137623490, 137642726, 137645698-137645699, 137726877, 137726934-137726940 |
| 1234 | LHX3 | 9 | 0.77171215880893 | 276 | 1209 | 139089303-139089305, 139089335, 139089338, 139089352, 139089500-139089514, 139090507, 139090515-139090517, 139090754-139090905, 139091613, 139091668-139091671, 139094792-139094885 |
| 1235 | INPP5E | 9 | 0.74470284237726 | 494 | 1935 | 139326284, 139326306-139326314, 139326364-139326373, 139327010-139327031, 139327035-139327038, 139327703, 139327719-139327721, 139329284, 139333063, 139333067, 139333136-139333137, 139333144, 139333148-139333190, 139333208-139333210, 139333305-139333389, 139333405, 139333422, 139333436, 139333469-139333498, 139333502-139333513, 139333539-139333568, 139333585, 139333590-139333591, 139333594, 139333622-139333682, 139333691-139333698, 139333713-139333871 |
| 1236 | NOTCH1 | 9 | 0.91379760041732 | 661 | 7668 | 139390546-139390552, 139390571-139390613, 139390842, 139390845, 139390908-139390932, 139390962-139391038, 139391280-139391286, 139391307-139391342, 139391415-139391423, 139391507-139391509, 139391518-139391519, 139391534-139391549, 139391615-139391639, 139391660-139391668, 139391803, 139391808, 139391811-139391858, 139391866-139391876, 139391898-139391900, 139391905-139391906, 139391914-139391917, 139391942-139391949, 139391967, 139391970-139391971, 139391977-139391996, 139391999-139392008, 139395184, 139395200-139395204, 139395223-139395224, 139396834-139396835, 139396879-139396884, 139396892-139396893, 139396906-139396916, 139399216, 139399219-139399220, 139399223-139399224, 139399248-139399281, 139399405-139399434, 139399870-139399876, 139400166-139400172, 139400183-139400188, 139400194-139400197, 139400290, 139400293, 139401090, 139401302-139401306, 139402745-139402752, 139403322-139403350, 139407477-139407478, 139409803, 139411764-139411795, 139412375-139412386, 139412632, 139417492, 139417561-139417565, 139417573, 139417589-139417594, 139440178-139440238 |
| 1237 | AGPAT2 | 9 | 0.76224611708483 | 199 | 837 | 139571070-139571074, 139571950-139571960, 139571963, 139581628-139581809 |
| 1238 | SLC34A3 | 9 | 0.80388888888889 | 353 | 1800 | 140127034-140127035, 140127051, 140127053-140127054, 140127059-140127065, 140127069, 140127138-140127155, 140127705, 140127708, 140127763-140127767, 140127799-140127800, 140127803-140127808, 140128085, 140128088, 140128126-140128172, 140128322-140128365, 140128367-140128373, 140128380, 140128386, 140128390, 140128561-140128652, 140128884-140128900, 140128930-140128948, 140128958-140128963, 140128967, 140130496-140130539, 140130700, 140130704, 140130736, 140130747-140130754, 140130785, 140130856-140130868 |
| 1239 | EHMT1 | 9 | 0.95535026943803 | 174 | 3897 | 140513481-140513501, 140605431, 140605442-140605446, 140605457-140605459, 140605462-140605464, 140605475, 140611216-140611254, 140637823-140637824, 140638502-140638504, 140638508, 140638511, 140638518-140638520, 140638524, 140638532, 140672415-140672418, 140708896-140708902, 140708926, 140708943, 140728806, 140728939-140728940, 140728954, 140728961-140728969, 140729269, 140729275, 140729286-140729342, 140729348-140729350, 140729353 |
| 1240 | SHOX | X | 0.71786120591581 | 248 | 879 | 591763-591769, 591772-591775, 595465, 595476-595477, 595487-595500, 595503-595504, 595511, 595514-595535, 595547-595549, 595553, 605149-605160, 605180-605204, 605218-605371 |
| 1241 | CSF2RA | X | 0.97777777777778 | 29 | 1305 | 1422172-1422200 |
| 1242 | ARSE | X | 0.99943502824859 | 1 | 1770 | 2876436 |
| 1243 | NLGN4X | X | 0.99428804569563 | 14 | 2451 | 5821338, 5821341-5821349, 5821352, 5821359-5821361 |
| 1244 | KAL1 | X | 0.90993636808615 | 184 | 2043 | 8504816, 8667747, 8699871-8699872, 8699884-8699885, 8699892-8699896, 8699899-8699901, 8699908-8700077 |
| 1245 | GPR143 | X | 0.86745098039216 | 169 | 1275 | 9728777-9728780, 9733608-9733755, 9733794-9733796, 9733804-9733806, 9733809-9733814, 9733822, 9733825-9733828 |
| 1246 | MID1 | X | 0.99600798403194 | 8 | 2004 | 10427715-10427722 |
| 1247 | TRAPPC2 | X | 0.98581560283688 | 6 | 423 | 13732537-13732541, 13732552 |
| 1248 | OFD1 | X | 0.99802566633761 | 6 | 3039 | 13767583, 13781898-13781901, 13786343 |
| 1249 | FANCB | X | 0.99573643410853 | 11 | 2580 | 14877313, 14877357, 14877407, 14882930, 14883607-14883613 |
| 1250 | CDKL5 | X | 0.99709020368574 | 9 | 3093 | 18646678, 18646683-18646688, 18646699, 18646707 |
| 1251 | RS1 | X | 0.98518518518519 | 10 | 675 | 18660143, 18660146-18660148, 18660156-18660159, 18660169, 18660173 |
| 1252 | PHKA2 | X | 0.99973031283711 | 1 | 3708 | 18917317 |
| 1253 | PDHA1 | X | 0.99914748508099 | 1 | 1173 | 19362201 |
| 1254 | RPS6KA3 | X | 0.98830409356725 | 26 | 2223 | 20174317-20174319, 20179797, 20205984, 20205991, 20206647-20206652, 20284682-20284688, 20284697, 20284735-20284737, 20284743-20284745 |
| 1255 | SMS | X | 0.95549500454133 | 49 | 1101 | 21958943-21958991 |
| 1256 | PHEX | X | 0.99955555555556 | 1 | 2250 | 22186499 |
| 1257 | ARX | X | 0.45411486086442 | 922 | 1689 | 25022841, 25022906-25022909, 25022914-25022916, 25022920, 25022925-25022935, 25022956-25023003, 25025295-25025318, 25025320-25025324, 25025352-25025364, 25025367-25025383, 25025397-25025484, 25025488-25025490, 25025502, 25025505-25025513, 25025519, 25025524-25025530, 25025543-25025546, 25031075-25031077, 25031085-25031086, 25031092-25031095, 25031112-25031113, 25031116, 25031133, 25031141-25031147, 25031152, 25031158-25031166, 25031216-25031227, 25031249-25031312, 25031322-25031416, 25031428-25031900, 25033691, 25033697, 25033702-25033705, 25033714, 25033720 |
| 1258 | NR0B1 | X | 0.91578202406228 | 119 | 1413 | 30326583-30326641, 30326653-30326659, 30326803-30326808, 30326844, 30327074-30327093, 30327130-30327142, 30327227-30327228, 30327231-30327234, 30327292-30327293, 30327314, 30327322, 30327384-30327386 |
| 1259 | DMD | X | 0.98616386326641 | 153 | 11058 | 31164456-31164467, 31165477-31165494, 31366719, 31462703, 31893372-31893375, 31893379, 31893386-31893388, 31893392-31893394, 31986497-31986499, 32305708-32305716, 32305727-32305728, 32305734-32305743, 32366564-32366567, 32398669, 32398672-32398673, 32472819, 32481644, 32486793-32486810, 32509419-32509428, 32509456-32509485, 32613946, 32613971, 32613984, 32827659, 32827666-32827679, 32867882 |
| 1260 | CYBB | X | 0.99649737302977 | 6 | 1713 | 37642752, 37642762, 37665697, 37665700-37665702 |
| 1261 | RPGR | X | 0.8800231280717 | 415 | 3459 | 38145312-38145713, 38145725, 38145731, 38163973-38163975, 38182691, 38186603-38186609 |
| 1262 | OTC | X | 0.99906103286385 | 1 | 1065 | 38226647 |
| 1263 | TSPAN7 | X | 0.93466666666667 | 49 | 750 | 38525375-38525394, 38546860-38546888 |
| 1264 | BCOR | X | 0.99202733485194 | 42 | 5268 | 39911479-39911480, 39921564-39921565, 39923008-39923009, 39923021, 39923026, 39923637-39923648, 39931873-39931879, 39932152-39932159, 39932480, 39933586-39933589, 39934105-39934106 |
| 1265 | NYX | X | 0.42600276625173 | 830 | 1446 | 41332744-41333555, 41333647-41333663, 41333706 |
| 1266 | CASK | X | 0.99530007230658 | 13 | 2766 | 41394150-41394151, 41401983-41401992, 41782240 |
| 1267 | MAOA | X | 0.99810606060606 | 3 | 1584 | 43571983-43571985 |
| 1268 | NDP | X | 0.97761194029851 | 9 | 402 | 43809156-43809157, 43809160-43809166 |
| 1269 | ZNF674 | X | 0.99198167239404 | 14 | 1746 | 46360432-46360445 |
| 1270 | RP2 | X | 0.99620132953466 | 4 | 1053 | 46696589, 46739173-46739175 |
| 1271 | UBA1 | X | 0.99905571293673 | 3 | 3177 | 47062095, 47069391-47069392 |
| 1272 | SYN1 | X | 0.64825306893296 | 745 | 2118 | 47433436-47433438, 47433441-47433442, 47433448-47433449, 47433454, 47433457, 47433490, 47433516-47433521, 47433527, 47433530-47433532, 47433543-47433547, 47433557-47433875, 47433900-47433945, 47433955-47433970, 47434091-47434101, 47434104-47434138, 47434158-47434165, 47436856-47436857, 47436869-47436873, 47436885-47436892, 47478764-47478766, 47478777-47478779, 47478785, 47478814-47478840, 47478843-47478848, 47478854-47478889, 47478934-47479127 |
| 1273 | CFP | X | 0.99148936170213 | 12 | 1410 | 47485828, 47488923-47488926, 47488932, 47488936-47488938, 47488941, 47488986, 47489232 |
| 1274 | FTSJ1 | X | 0.99494949494949 | 5 | 990 | 48341139-48341140, 48341145-48341147 |
| 1275 | PORCN | X | 0.99278499278499 | 10 | 1386 | 48371008-48371017 |
| 1276 | EBP | X | 0.995670995671 | 3 | 693 | 48382318-48382320 |
| 1277 | WAS | X | 0.87077534791252 | 195 | 1509 | 48547076-48547116, 48547150, 48547166-48547167, 48547171-48547173, 48547183-48547253, 48547263-48547265, 48547285-48547329, 48547369-48547373, 48547716-48547739 |
| 1278 | GATA1 | X | 0.98872785829308 | 14 | 1242 | 48649648, 48649661-48649664, 48649686, 48649690, 48650525-48650531 |
| 1279 | PQBP1 | X | 0.98997493734336 | 8 | 798 | 48755794, 48755809, 48760288, 48760291-48760295 |
| 1280 | SYP | X | 0.96709129511677 | 31 | 942 | 49048087-49048091, 49056620-49056645 |
| 1281 | CACNA1F | X | 0.99612403100775 | 23 | 5934 | 49061599, 49065118-49065120, 49067107-49067108, 49075000, 49075164-49075169, 49075836, 49086985, 49087028, 49087035-49087038, 49087049, 49087325, 49087328 |
| 1282 | FOXP3 | X | 0.97145061728395 | 37 | 1296 | 49107797-49107812, 49107818-49107830, 49108210-49108212, 49110480, 49110490-49110491, 49110496, 49114875 |
| 1283 | CLCN5 | X | 0.99918400652795 | 2 | 2451 | 49806952, 49846409 |
| 1284 | KDM5C | X | 0.98953662182362 | 49 | 4683 | 53222155, 53222167-53222171, 53222445-53222466, 53223591-53223610, 53225898 |
| 1285 | SMC1A | X | 0.99972987574284 | 1 | 3702 | 53410112 |
| 1286 | HSD17B10 | X | 0.99236641221374 | 6 | 786 | 53460785-53460790 |
| 1287 | FGD1 | X | 0.93104643104643 | 199 | 2886 | 54494254-54494261, 54496755-54496793, 54497111-54497149, 54497831, 54521739-54521749, 54521752, 54521766-54521865 |
| 1288 | ARHGEF9 | X | 0.9993552546744 | 1 | 1551 | 62857992 |
| 1289 | AR | X | 0.90119435396308 | 273 | 2763 | 66765125-66765132, 66765135-66765229, 66765237-66765265, 66765436, 66765446, 66765579, 66765582-66765586, 66765599-66765604, 66765866, 66765875-66765877, 66765902-66765907, 66765957-66765963, 66766118, 66766125-66766128, 66766172-66766179, 66766188-66766192, 66766196, 66766200, 66766202-66766225, 66766241-66766252, 66766353-66766399, 66766407, 66766419-66766423, 66766466 |
| 1290 | OPHN1 | X | 0.99667911996679 | 8 | 2409 | 67283815, 67283818, 67293099-67293104 |
| 1291 | EFNB1 | X | 0.99519692603266 | 5 | 1041 | 68049702-68049703, 68059884, 68060275, 68060317 |
| 1292 | EDA | X | 0.95748299319728 | 50 | 1176 | 68836188, 68836192-68836204, 68836236-68836237, 68836240-68836250, 68836254, 68836272-68836274, 68836316-68836329, 68836388-68836389, 69253325-69253327 |
| 1293 | DLG3 | X | 0.94132029339853 | 144 | 2454 | 69665052-69665082, 69665090-69665147, 69665159-69665179, 69665192-69665193, 69665222-69665223, 69665227-69665231, 69665239-69665245, 69665254-69665261, 69665278-69665282, 69665339, 69665358-69665359, 69669620, 69670133 |
| 1294 | MED12 | X | 0.96311600857055 | 241 | 6534 | 70338605-70338689, 70338692-70338694, 70344016-70344035, 70354258-70354262, 70354992, 70356265, 70356270, 70356346, 70356354, 70360596-70360615, 70360636-70360642, 70360644, 70360656-70360662, 70360669, 70360686-70360695, 70361089-70361091, 70361094, 70361097, 70361100, 70361103, 70361107-70361117, 70361120-70361127, 70361130, 70361133-70361142, 70361145, 70361151, 70361154, 70361160, 70361164-70361165, 70361193-70361204, 70361207-70361208, 70361212-70361216, 70361749, 70361756-70361760, 70361771-70361779 |
| 1295 | NLGN3 | X | 0.99959790912746 | 1 | 2487 | 70389653 |
| 1296 | GJB1 | X | 0.99882629107981 | 1 | 852 | 70444384 |
| 1297 | TAF1 | X | 0.96814501935938 | 181 | 5682 | 70586165-70586344, 70626538 |
| 1298 | PHKA1 | X | 0.99863834422658 | 5 | 3672 | 71870284-71870287, 71870295 |
| 1299 | SLC16A2 | X | 0.8327904451683 | 308 | 1842 | 73641251-73641252, 73641290-73641495, 73641523-73641524, 73641544-73641553, 73641556-73641564, 73641569, 73641645, 73641654-73641662, 73641666-73641676, 73641683-73641684, 73641721-73641755, 73641760, 73641768-73641777, 73641780, 73641784-73641785, 73641792-73641795, 73641875-73641876 |
| 1300 | KIAA2022 | X | 0.99978026807295 | 1 | 4551 | 73964264 |
| 1301 | ABCB7 | X | 0.99690539345712 | 7 | 2262 | 74280112-74280115, 74280123, 74290292, 74291510 |
| 1302 | ATRX | X | 0.99532022997727 | 35 | 7479 | 76763915, 76764059, 76764062, 76813025, 76813028, 76813034, 76813094, 76845306-76845311, 76845315, 76875938, 76912106-76912112, 76912131, 76918976, 76919006-76919015, 76938076 |
| 1303 | PGK1 | X | 0.99441786283892 | 7 | 1254 | 77369394-77369396, 77369555, 77369580-77369581, 77378800 |
| 1304 | TBX22 | X | 0.99552143314139 | 7 | 1563 | 79277847-79277853 |
| 1305 | BRWD3 | X | 0.99131077833241 | 47 | 5409 | 79947620, 79965011-79965012, 79965018-79965020, 79965023, 79973164-79973166, 79991528, 79991584, 79999673-79999675, 80049174, 80064940-80064970 |
| 1306 | POU3F4 | X | 0.99539594843462 | 5 | 1086 | 82763826, 82764040-82764042, 82764081 |
| 1307 | ZNF711 | X | 0.98993875765529 | 23 | 2286 | 84519402-84519403, 84525067-84525070, 84525079, 84525711-84525717, 84525723-84525731 |
| 1308 | CHM | X | 0.99592252803262 | 8 | 1962 | 85128131, 85166305-85166307, 85211269, 85211280, 85236772, 85236779 |
| 1309 | PCDH19 | X | 0.97096188747731 | 96 | 3306 | 99657687, 99662354-99662360, 99662998, 99663041, 99663054, 99663058-99663061, 99663153, 99663324-99663346, 99663368, 99663371, 99663382, 99663391, 99663411-99663445, 99663560-99663570, 99663576, 99663587, 99663591-99663595 |
| 1310 | SRPX2 | X | 0.99928469241774 | 1 | 1398 | 99920547 |
| 1311 | GLA | X | 0.9968992248062 | 4 | 1290 | 100655671-100655674 |
| 1312 | COL4A5 | X | 0.98873072360617 | 57 | 5058 | 107821526-107821528, 107834395-107834402, 107834410-107834445, 107845144-107845145, 107909753-107909754, 107909763-107909765, 107925093-107925095 |
| 1313 | ACSL4 | X | 0.99672284644195 | 7 | 2136 | 108917637-108917639, 108917695, 108921282-108921284 |
| 1314 | PAK3 | X | 0.99598393574297 | 7 | 1743 | 110406842, 110406846, 110406850-110406851, 110406859, 110406864, 110435787 |
| 1315 | LAMP2 | X | 0.96601941747573 | 42 | 1236 | 119562389, 119562457-119562481, 119582899-119582908, 119590511, 119590574-119590578 |
| 1316 | CUL4B | X | 0.96425966447848 | 98 | 2742 | 119681064, 119693990, 119694068-119694101, 119694110-119694140, 119694434-119694464 |
| 1317 | XIAP | X | 0.99866131191432 | 2 | 1494 | 123025118, 123025140 |
| 1318 | OCRL | X | 0.98891352549889 | 30 | 2706 | 128674426-128674455 |
| 1319 | ZDHHC9 | X | 0.99908675799087 | 1 | 1095 | 128940385 |
| 1320 | GPC3 | X | 0.99082042455536 | 16 | 1743 | 133119387-133119389, 133119429-133119432, 133119458-133119460, 133119463-133119468 |
| 1321 | PHF6 | X | 0.99908925318761 | 1 | 1098 | 133512067 |
| 1322 | HPRT1 | X | 0.95890410958904 | 27 | 657 | 133594342-133594368 |
| 1323 | SLC9A6 | X | 0.93162393162393 | 144 | 2106 | 135067679-135067682, 135067686, 135067694-135067719, 135067774, 135067828, 135067840-135067843, 135067850, 135067865-135067875, 135067882-135067898, 135067926-135067977, 135106616-135106617, 135122239-135122240, 135122245-135122256, 135122266-135122275 |
| 1324 | ZIC3 | X | 0.89387464387464 | 149 | 1404 | 136648875-136648885, 136648906, 136648910-136648912, 136648917, 136648989-136648992, 136649001-136649011, 136649272-136649282, 136649287-136649290, 136649683-136649685, 136649688-136649690, 136651063-136651076, 136651095-136651105, 136651109, 136651115-136651169, 136651180-136651186, 136651194-136651199, 136651202, 136651223, 136652054 |
| 1325 | SOX3 | X | 0.33333333333333 | 894 | 1341 | 139585885-139586546, 139586588-139586615, 139586622-139586633, 139586639-139586640, 139586657-139586666, 139586672-139586691, 139586698-139586703, 139586710-139586712, 139586714-139586719, 139586725, 139586731, 139586738-139586740, 139586743-139586747, 139586753, 139586756-139586778, 139586788-139586793, 139586798-139586809, 139586814-139586844, 139586853-139586862, 139586876-139586909, 139586922-139586924, 139587106, 139587168-139587174, 139587217-139587223 |
| 1326 | FMR1 | X | 0.99736703528173 | 5 | 1899 | 147014260-147014264 |
| 1327 | AFF2 | X | 0.99161585365854 | 33 | 3936 | 147582654-147582660, 147582663, 147919188-147919197, 147919201-147919211, 147924521, 147924524-147924526 |
| 1328 | MTM1 | X | 0.99613686534216 | 7 | 1812 | 149826369-149826375 |
| 1329 | FAM58A | X | 0.86394557823129 | 100 | 735 | 152864420-152864480, 152864483-152864521 |
| 1330 | SLC6A8 | X | 0.75786163522013 | 462 | 1908 | 152954030-152954291, 152957499-152957500, 152959394-152959403, 152959629-152959651, 152959687-152959709, 152959799-152959860, 152960261-152960299, 152960318-152960338, 152960547-152960553, 152960657-152960669 |
| 1331 | ABCD1 | X | 0.85656836461126 | 321 | 2238 | 152990764-152990766, 152990769-152990770, 152990772-152990775, 152990888-152990895, 152990906-152990915, 152990953-152990962, 152990975, 152991016, 152991089-152991137, 152991232, 152991294-152991300, 152991385-152991391, 152991412-152991442, 152991457, 152991466, 152991470, 152991473-152991474, 152991478, 152991488-152991490, 153006138-153006144, 153008473-153008486, 153008516-153008525, 153008675-153008678, 153008705-153008734, 153008981-153008987, 153009014-153009057, 153009083-153009124, 153009137-153009156 |
| 1332 | L1CAM | X | 0.9912559618442 | 33 | 3774 | 153128152-153128163, 153130612-153130614, 153133337, 153141269-153141285 |
| 1333 | AVPR2 | X | 0.98028673835125 | 22 | 1116 | 153171397, 153172053-153172056, 153172061-153172071, 153172085-153172090 |
| 1334 | MECP2 | X | 0.9124916499666 | 131 | 1497 | 153295951-153295964, 153295967, 153295996, 153296051, 153296184-153296217, 153297799-153297804, 153297820-153297822, 153297826-153297829, 153297876, 153297884-153297887, 153363061-153363122 |
| 1335 | OPN1LW | X | 0.9296803652968 | 77 | 1095 | 153409780, 153416206-153416212, 153418453-153418471, 153418511-153418544, 153420105-153420120 |
| 1336 | OPN1MW | X | 0.94977168949772 | 55 | 1095 | 153455583-153455593, 153455641-153455668, 153457235-153457250 |
| 1337 | OPN1MW | X | 0.95799086757991 | 46 | 1095 | 153492759-153492786, 153494353-153494368, 153496106, 153496121 |
| 1338 | FLNA | X | 0.97079556898288 | 232 | 7944 | 153577824-153577825, 153577827-153577834, 153577837, 153581459-153581460, 153581500-153581501, 153581734, 153588411, 153588596-153588599, 153593775, 153593853-153593854, 153594930-153594950, 153599265, 153599276-153599280, 153599283, 153599286-153599321, 153599330-153599340, 153599354-153599355, 153599362-153599426, 153599436-153599440, 153599452-153599453, 153599461, 153599464-153599469, 153599483, 153599494-153599500, 153599546-153599584, 153599593, 153599596-153599598, 153599601 |
| 1339 | EMD | X | 0.78300653594771 | 166 | 765 | 153607845-153607926, 153608050-153608117, 153608126-153608132, 153608141-153608147, 153609432, 153609435 |
| 1340 | TAZ | X | 0.99239543726236 | 6 | 789 | 153640215-153640218, 153640289, 153649054 |
| 1341 | GDI1 | X | 0.97395833333333 | 35 | 1344 | 153665602-153665608, 153665621-153665645, 153668412, 153668433, 153668486 |
| 1342 | G6PD | X | 0.94871794871795 | 84 | 1638 | 153760226, 153760254, 153760273-153760280, 153760288, 153760428, 153760437, 153760603-153760608, 153760615-153760617, 153760673, 153760916-153760922, 153762711, 153775033-153775085 |
| 1343 | IKBKG | X | 0.87704918032787 | 180 | 1464 | 153780321-153780322, 153786752-153786771, 153788622-153788763, 153792557-153792572 |
| 1344 | IKBKG | X | 0.96728016359918 | 16 | 489 | 153868355-153868370 |
| 1345 | DKC1 | X | 0.99935275080906 | 1 | 1545 | 153993782 |
| Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
|---|---|---|---|---|---|---|
| 5 | SCNN1G-E197K | het unknown | 0.008 | Dominant pathogenic | Low clinical importance, uncertain | May cause slight increased risk of rare, CFTR-like disease. |
| 3 | TTR-G26S | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 3 | TTR-T139M | het unknown | 0.008 | Dominant protective | Low clinical importance, uncertain | This variant is reported to have a protective effect in carriers of the V30M variant in this gene -- V30M causes familial amyloidosis, but this variant appears to protect against that pathogenic effect. |
| 3 | TGFB1-T263I | het unknown | 0.031 | Dominant protective | Low clinical importance, uncertain | Carriers may be less likely to have cleft lip and palate congenital deformity. |
| 2.5 | PRF1-A91V | het unknown | 0.024 | Complex/Other pathogenic | Low clinical importance, likely | 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. |
| 2.5 | COL4A1-Q1334H | het unknown | 0.292 | Dominant pathogenic | Low clinical importance, likely | This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%. |
| 2.5 | COL4A1-T555P | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | C3-R102G | het unknown | 0.053 | Complex/Other pathogenic | Moderate clinical importance, likely | This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%. |
| 2 | CILP-G1166S | homozygous | 0.766 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | CILP-Q979R | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | CILP-K575E | homozygous | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | CILP-I395T | homozygous | 0.491 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 2 | CHIT1-A442G | homozygous | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | CHIT1-G102S | homozygous | 0.268 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.057 (benign), Testable gene in GeneTests |
| 2 | MTRR-I49M | homozygous | 0.313 | Recessive pathogenic | Low clinical importance, likely | This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V. |
| 2 | MTRR-S202L | het unknown | 0.285 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | NEFL-S472Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 1.875 | LRP5-V667M | het unknown | 0.007 | Recessive pathogenic | High clinical importance, uncertain | This variant has been implicated in causing osteoporosis-pseudoglioma syndrome in a recessive manner. The gene is strongly implicated in causing the disease, but an insufficient number of controls means this variant's observation lacks statistical significance. The condition manifests in childhood with early onset osteoporosis and eye problems. |
| 1.875 | LRP5-A1330V | het unknown | 0.120 | Complex/Other pathogenic | Low clinical importance, uncertain | In a study of a UK population this variant was associated with a small increased risk of osteoporosis and osteoporotic bone fractures, with each copy of the variant presumed to have an additive effect. A study in Chinese young men failed to find an association with peak bone density. |
| 1.5 | NPC1-I858V | homozygous | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview |
| 1.5 | NPC1-M642I | homozygous | 0.863 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.5 | NPC1-H215R | homozygous | 0.222 | Complex/Other protective | Low clinical importance, likely | This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). |
| 1.5 | ABCA4-P1780A | het unknown | 0.008 | Recessive pathogenic | High clinical importance, uncertain | Reported to have caused Stargardt disease (progressive vision loss and blindness) in a recessive manner when seen in a single compound heterozygous case, but insufficient data makes it impossible to determine the significance of this report. |
| 1.5 | ABCA4-G1578R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1.25 | TP53-P72R | het unknown | 0.550 | Unknown pathogenic | Low clinical importance, uncertain | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. |
| 1.25 | PRODH-R521Q | homozygous | 0.887 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1.25 | PRODH-R431H | het unknown | 0.035 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1.25 | RNASEL-D541E | het unknown | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1.25 | RNASEL-R462Q | het unknown | 0.208 | Complex/Other pathogenic | Low clinical importance, uncertain | Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases. |
| 1.25 | SP110-M523T | homozygous | 0.319 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.25 | SP110-L425S | het unknown | 0.875 | Unknown pathogenic | Low clinical importance, uncertain | This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect. |
| 1.25 | SP110-G299R | het unknown | 0.822 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.25 | SP110-W112R | het unknown | 0.945 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | UMPS-G213A | homozygous | 0.170 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | DSC3-N239S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | DSC3-R102K | het unknown | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | DSC3-S78T | het unknown | 0.478 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | CCDC66-D5Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CCDC66-Q383R | homozygous | 0.934 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CCDC66-R460Q | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 1 | CCDC66-E592K | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) | |
| 1 | CCDC66-S606SS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF167-N494Shift | homozygous | 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 | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | VSIG10L-N3T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ALMS1-R392C | homozygous | 0.409 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ALMS1-V671G | homozygous | 0.857 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ALMS1-G1414A | homozygous | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ALMS1-I1875V | homozygous | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ALMS1-I2070T | homozygous | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ALMS1-S2111R | homozygous | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ALMS1-R2284P | homozygous | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ALMS1-R2826S | homozygous | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ALMS1-N2856S | homozygous | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | DSG2-I293V | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | DSG2-E713K | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | DSG2-R773K | het unknown | 0.221 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | HSH2D-S223Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | ABCA12-D2365N | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.86 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | ABCA12-S777T | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | C19orf55-G398Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | BLMH-I443V | het unknown | 0.241 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | TTN-I32964T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-T26971Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-A19840P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-S3419N | homozygous | 0.850 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-V3261M | homozygous | 0.840 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-S1295L | homozygous | 0.881 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-K1201E | homozygous | 0.519 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-T811I | homozygous | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | PIKFYVE-R572Q | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 1 | PIKFYVE-S696N | homozygous | 0.992 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PIKFYVE-L932S | homozygous | 0.900 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PIKFYVE-T998S | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PIKFYVE-Q1183K | homozygous | 0.898 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CD226-S307G | homozygous | 0.423 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | AGXT-P11L | homozygous | 0.142 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | AGXT-I340M | homozygous | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HTT-Y2309H | homozygous | 0.459 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HTT-V2786I | homozygous | 0.193 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SEBOX-L207S | homozygous | 0.913 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SEBOX-W10Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | VDR-M1T | homozygous | 0.687 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 1 | KRT6B-G97R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | EYS-R2326Q | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | EYS-N1902I | homozygous | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | EYS-L1748F | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | EYS-L1419S | het unknown | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | EYS-L852P | homozygous | 0.655 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | EYS-E641V | het unknown | 0.112 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | EYS-T120M | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | CUL7-Q813R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | CLECL1-S52Shift | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | KCP-K395E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KCP-H313Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CELP-Q180* | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | CELP-L184P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ABCC2-Y39F | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ABCC2-V1188E | het unknown | 0.086 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ABCC2-C1515Y | het unknown | 0.095 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | MS4A14-I56Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | MS4A14-N177Y | homozygous | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
| 1 | MS4A14-G584R | homozygous | 0.513 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 1 | PLEKHA2-P389Shift | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | NOP10-D12H | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.932 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | TLR3-L412F | homozygous | 0.200 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 1 | SPG7-T503A | het unknown | 0.095 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | SPG7-R688Q | het unknown | 0.072 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | ZNF480-C3Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ENO3-N71S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | ENO3-V85A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | PIK3R6-L609Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CYBA-Y72H | homozygous | 0.649 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ADH1B-H48R | homozygous | 0.678 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | NPRL3-L489Shift | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | NPRL3-N184H | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | BBS12-V7I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | BBS12-R386Q | homozygous | 0.515 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | BBS12-D467N | homozygous | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NR_027242-Q97Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027242-L22P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | BANK1-R61H | het unknown | 0.221 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | BANK1-C650R | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | BC144350-Q193Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | MTHFR-R594Q | het unknown | 0.064 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | MTHFR-E429A | het unknown | 0.243 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.099 (benign), Testable gene in GeneTests |
| 1 | MTHFR-A222V | het unknown | 0.250 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests |
| 1 | KRTAP7-1-I61S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-S51P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-Y17Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NDUFS2-P352A | homozygous | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 1 | ALG6-S306F | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | EPHX1-Y113H | homozygous | 0.290 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging) |
| 1 | EPHX1-H139R | het unknown | 0.210 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | PVRL4-P104T | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 1 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | DGKK-L1014Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | F5-L1285I | homozygous | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-Q534R | homozygous | 0.991 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | PTPN22-W620R | homozygous | 0.970 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | ZNF761-L47Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF761-I122S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-V168I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-G528S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-E603Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | COL18A1-PGP1362Del | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | HRNR-R2761Q | homozygous | 0.600 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-S799T | homozygous | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-F669S | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-E473G | homozygous | 0.951 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-G427D | homozygous | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-Q376R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-H273Q | homozygous | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-R85H | homozygous | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.078 (benign) |
| 1 | HRNR-M1Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.75 | ABCC6-R1268Q | het unknown | 0.142 | Unknown pharmacogenetic | Low clinical importance, uncertain | This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity. |
| 0.75 | ABCC6-M848V | homozygous | 0.954 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | ABCC6-H632Q | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | ABCC6-V614A | homozygous | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | PRNP-M129V | het unknown | 0.258 | Complex/Other protective | Low clinical importance, well-established | This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. |
| 0.5 | DOPEY1-R2266W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CASP8AP2-T1567Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CASP8AP2-S1568Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | THEMIS-I192V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.956 (probably damaging) |
| 0.5 | AIM1-Q293P | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AIM1-E1196A | het unknown | 0.935 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.015 (benign) |
| 0.5 | ZBTB24-R49Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | AHI1-R548H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.771 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMA2-A2585V | het unknown | 0.594 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LAMA2-R2784C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC22A2-S270A | homozygous | 0.876 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PMS2-K541E | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PMS2-P470S | homozygous | Unknown benign | Low clinical importance, likely | Benign, common variant. | |
| 0.5 | DNAH11-V1023A | het unknown | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T1038A | homozygous | 0.747 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-N2641S | het unknown | 0.367 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-A3474T | het unknown | 0.501 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-M4172V | homozygous | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-A4322T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-K4508R | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HSPG2-V3640I | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-R1919C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-N765S | homozygous | 0.896 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-M638V | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE1-G8323A | homozygous | 0.310 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-A8168S | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-F7302V | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-L5015M | homozygous | 0.866 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-S4596T | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-K4121R | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-S3346Y | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LCA5-G656D | het unknown | 0.377 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LCA5-D26A | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LCA5-L24S | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | BCLAF1-T888N | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.31 (possibly damaging) |
| 0.5 | BCLAF1-S209C | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | BCLAF1-G66A | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FUCA1-Q286R | het unknown | 0.205 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.004 (benign), Testable gene in GeneTests |
| 0.5 | FUCA1-R2W | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests |
| 0.5 | IL20RA-L382F | het unknown | 0.221 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.481 (possibly damaging) |
| 0.5 | IL20RA-V259I | homozygous | 0.705 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | IL20RA-S177Y | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.935 (probably damaging) |
| 0.5 | ZNF451-P597L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | COL9A1-Q621R | homozygous | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL9A1-S339P | homozygous | 0.507 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPX5-L85P | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ZFP57-R313G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-H-C238S | homozygous | 0.729 | 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 | 0.936 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MSX2-M129T | homozygous | 0.716 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CCDC99-R20Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | CCDC99-Y508H | homozygous | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CCDC99-L586S | homozygous | 0.641 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPINK5-D106N | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-A335V | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-S368N | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-D386N | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-K420E | het unknown | 0.380 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-R711Q | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-H1002R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | PDE6A-H655Y | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC26A2-I574T | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KIF4B-R580L | homozygous | 0.685 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIF4B-I834Shift | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | HSPA1L-E602K | het unknown | 0.225 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.5 | HSPA1L-T493M | homozygous | 0.868 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.5 | TNXB-G2518E | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-G2495S | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-V2127M | het unknown | 0.141 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-S921A | het unknown | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-A173T | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AARS2-V730M | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | AARS2-I339V | homozygous | 0.863 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PLA2G7-V379A | homozygous | 0.721 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.816 (possibly damaging) |
| 0.5 | PLA2G7-R92H | het unknown | 0.252 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PLA2G7-R82H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PKHD1-Q4048R | het unknown | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-Q3899R | het unknown | 0.546 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-L1870V | homozygous | 0.905 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-A1262V | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-R760C | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ANLN-R185K | het unknown | 0.599 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ANLN-R695G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | SEPN1-T103A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PEX6-P939Q | het unknown | 0.339 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PEX6-R928H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-L8M | het unknown | 0.457 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Y48F | homozygous | 0.116 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-G79R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-DQA1-G84F | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-M230V | homozygous | 0.782 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-F41Y | homozygous | 0.789 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-V15A | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-D12G | het unknown | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TULP1-K261N | homozygous | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TULP1-I259T | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TULP1-T67R | homozygous | 0.877 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BAI2-R1032H | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | DNAH8-I573V | homozygous | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DNAH8-G807E | homozygous | 0.457 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DNAH8-E1202K | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DNAH8-I1531Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | DNAH8-T4440M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.334 (possibly damaging) |
| 0.5 | MUC17-K227Q | het unknown | 0.212 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC17-G272E | het unknown | 0.097 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC17-A427T | het unknown | 0.401 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC17-P571L | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC17-S861T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | MUC17-R942S | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC17-T1006I | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.31 (possibly damaging) |
| 0.5 | MUC17-G1040E | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | MUC17-S1097R | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.897 (probably damaging) |
| 0.5 | MUC17-I1130T | homozygous | 0.966 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.024 (benign) |
| 0.5 | MUC17-S1242T | het unknown | 0.154 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC17-T1262S | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC17-T1305S | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MUC17-G1307S | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC17-L1348P | het unknown | 0.215 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC17-S1493T | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.914 (probably damaging) |
| 0.5 | MUC17-S1846T | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC17-A2081D | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC17-A2096T | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC17-R2159G | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC17-S3285G | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC17-S3299N | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MUC17-R4333Q | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TNS3-L1098V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | TOPORS-N749D | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.334 (possibly damaging), Testable gene in GeneTests |
| 0.5 | DNAI1-A8S | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | UNC13B-F1096L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | ROR2-V819I | homozygous | 0.798 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DOCK8-A22V | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 0.5 | DOCK8-D63N | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests |
| 0.5 | DOCK8-P97T | het unknown | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests |
| 0.5 | DOCK8-N413S | het unknown | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.19 (benign), Testable gene in GeneTests |
| 0.5 | RECQL4-R1005Q | homozygous | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RECQL4-E267D | homozygous | 0.471 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RECQL4-S92P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC30A8-R325W | het unknown | 0.225 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ATAD2-C1362R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | GPAA1-K621N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | GPT-H14N | homozygous | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ECM2-P155L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) | |
| 0.5 | ECM2-Q56P | homozygous | 0.768 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.891 (probably damaging) |
| 0.5 | SUSD3-K136E | het unknown | 0.296 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SUSD3-R137W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | SETX-I2547T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-I1386V | homozygous | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-G1252R | homozygous | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-D1192E | homozygous | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MMEL1-G612R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) | |
| 0.5 | MMEL1-M518T | het unknown | 0.538 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNAPC4-R729Q | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | GTPBP4-R248C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | POMT1-R713C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GLE1-R316Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MORN1-R253W | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | MURC-M61V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | DFNB31-V783A | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-H752Q | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-M613T | het unknown | 0.487 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-R364H | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PGD-M22I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | PKHD1L1-T1349N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | PKHD1L1-D3437G | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.78 (possibly damaging) |
| 0.5 | VPS13B-A2343G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | VPS13B-A3691T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | SVOPL-F385C | homozygous | 0.445 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | SVOPL-R170* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | AF035281-S47Shift | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | AF035281-Q119R | homozygous | 0.697 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NOS3-D298E | homozygous | 0.844 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | TMUB1-R174S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | FLNC-R1567Q | het unknown | 0.074 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.676 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RNF133-H290R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | AKAP9-M463I | het unknown | 0.376 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AKAP9-K1335KQ | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | AKAP9-N2792S | het unknown | 0.271 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CYP3A7-R409T | homozygous | 0.669 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | EIF4G3-P496A | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | RLF-G957D | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | MCPH1-R171S | homozygous | 0.865 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D314H | homozygous | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D392G | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-A761V | het unknown | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-P828S | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DEFA6-Q41* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | RP1-N985Y | homozygous | 0.206 | Unknown benign | Low clinical importance, uncertain | Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant. |
| 0.5 | RP1-C2033Y | homozygous | 0.186 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests |
| 0.5 | PEX2-C184R | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CNGB3-T298P | homozygous | 0.681 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NBN-L574I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.178 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NBN-E185Q | homozygous | 0.338 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNFRSF1B-M196R | het unknown | 0.206 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | PXDNL-D1452E | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PXDNL-R1399K | homozygous | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PXDNL-M981V | homozygous | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PXDNL-F94S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | HR-R620Q | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SFTPC-T138N | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SFTPC-A172G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | SFTPC-P173L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | SFTPC-S186N | het unknown | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CROCC-R7G | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CROCC-R347W | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | CROCC-A439V | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | CLCNKB-R27L | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-L155V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-A287V | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-M562T | homozygous | 0.856 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-K578E | het unknown | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CHRNA2-T125A | homozygous | 0.644 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FBN2-V965I | homozygous | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCDHB11-Q4R | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PCDHB11-P449A | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | KAT2B-R653W | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.864 (probably damaging) |
| 0.5 | GPA33-V119F | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
| 0.5 | CNOT10-Y541F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | IL6R-D358A | het unknown | 0.266 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.911 (probably damaging) |
| 0.5 | BTD-P391S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IRAK2-S47Y | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | IRAK2-D431E | het unknown | 0.832 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | IRAK2-T508M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.5 | COL6A3-T3069I | het unknown | 0.364 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-A3012P | homozygous | 0.843 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-M2988V | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DARS2-G338E | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.091 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SELP-V640L | homozygous | 0.295 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SELP-D603N | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PASK-E796K | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.952 (probably damaging) |
| 0.5 | PASK-V250I | het unknown | 0.228 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | CCBP2-V41A | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | CCBP2-P222Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ANO10-R462Q | homozygous | 0.602 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ANO10-R263H | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | SLC9A10-F986L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SLC9A10-G826S | homozygous | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.023 (benign) |
| 0.5 | SLC9A10-S768I | homozygous | 0.322 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.735 (possibly damaging) |
| 0.5 | SLC9A10-Q732K | homozygous | 0.789 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | SLC9A10-T705I | homozygous | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.5 | SLC9A10-T424A | homozygous | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.239 (possibly damaging) |
| 0.5 | SLC9A10-I364V | homozygous | 0.624 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC9A10-I348M | homozygous | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIAA1407-E696D | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.941 (probably damaging) |
| 0.5 | KIAA1407-H84N | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | DRD3-G9S | homozygous | 0.482 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CASR-R990G | het unknown | 0.199 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests |
| 0.5 | CASR-E1011Q | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NR_015394-T113Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | GBE1-I334V | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RNF123-R387Q | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | ZMYND10-R369W | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | FLG-Q2717K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | FLG-H2463D | het unknown | 0.008 | Unknown benign | Low clinical importance, uncertain | Tentatively evaluated as benign. Other, much more severe null mutations cause increased susceptibility ichthyosis vulgaris, atopic eczema, and allergies. |
| 0.5 | FLG-S805F | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KBTBD8-F179L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) | |
| 0.5 | ATG16L1-D121E | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | ATG16L1-T300A | het unknown | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | TOR1AIP1-M146T | het unknown | 0.583 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TOR1AIP1-P276R | het unknown | 0.572 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.982 (probably damaging) |
| 0.5 | TOR1AIP1-Q293H | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.874 (probably damaging) |
| 0.5 | GCKR-L446P | het unknown | 0.673 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ALK-D1529E | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-K1491R | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-I1461V | homozygous | 0.982 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-L1033P | het unknown | 0.008 | Unknown benign | Low clinical importance, uncertain | Tentatively evaluated as nonpathogenic, although other disruptive variants are associated with familial neuroblastoma. |
| 0.5 | CYP1B1-V432L | het unknown | 0.547 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LYST-T1982I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | OTOF-D304Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | OTOF-F303L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | OTOF-R82C | het unknown | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HADHB-T2TT | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AX746649-W43* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | EDARADD-M9I | homozygous | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | APOB-A4481T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-S4338N | het unknown | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-P2739L | het unknown | 0.346 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-I2313V | het unknown | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-Y1422C | homozygous | 0.994 | Unknown benign | Low clinical importance, uncertain | This position is almost certainly an error in the HG18 reference sequence. |
| 0.5 | APOB-A618V | homozygous | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ATAD2B-M415T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | ATAD2B-Q207R | homozygous | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NEB-I6534V | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-A6277P | het unknown | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-R4389T | het unknown | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K2613N | het unknown | 0.138 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-V1491M | homozygous | 0.453 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-Y1301H | homozygous | 0.668 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K1027N | homozygous | 0.476 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN1A-A1056T | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ANKZF1-R59S | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.472 (possibly damaging) |
| 0.5 | ANKZF1-R585Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | LAMC2-T124M | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMC2-S733T | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-Q1578R | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-E1365D | homozygous | 0.723 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-R723K | het unknown | 0.770 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-R368C | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-G43R | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-L141P | homozygous | 0.760 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-E162G | homozygous | 0.764 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-D326Y | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-P574L | het unknown | 0.358 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-Y2494H | homozygous | 0.992 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OPTC-I182T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | COL3A1-A698T | homozygous | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL3A1-H1353Q | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HECW2-R796C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging) |
| 0.5 | ALS2-V368M | homozygous | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-M3868V | het unknown | 0.131 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-E3411A | het unknown | 0.638 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-I2169T | homozygous | 0.575 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-I2106T | het unknown | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC41A3-L501Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | SLC41A3-T62A | homozygous | 0.982 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ACAD9-A326T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.975 (probably damaging), Testable gene in GeneTests |
| 0.5 | WWC2-R979C | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | LRP8-R952Q | het unknown | 0.130 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | TOE1-R341H | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | DEM1-G172V | het unknown | 0.573 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DEM1-R344Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ACOT11-R20H | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.938 (probably damaging) |
| 0.5 | CAMK2D-P444S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | DNAJC6-V575M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.024 (benign) |
| 0.5 | DNAJC6-T839K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.987 (probably damaging) |
| 0.5 | HADH-L86P | homozygous | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFI-T300A | homozygous | 0.957 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALPK1-G565D | het unknown | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ALPK1-H642R | het unknown | 0.663 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ALPK1-M732I | het unknown | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ALPK1-M861T | het unknown | 0.664 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ALPK1-R1084Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | DNAH5-I4450V | homozygous | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-A4134V | homozygous | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-Q2463R | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-T558A | het unknown | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-H12Q | het unknown | 0.896 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IL7R-I66T | homozygous | 0.597 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IL7R-V138I | homozygous | 0.689 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IL7R-T244I | het unknown | 0.150 | Unknown protective | Low clinical importance, likely | The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000). |
| 0.5 | IL7R-I356V | het unknown | 0.214 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC22A4-I306T | het unknown | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SLC22A4-L503F | het unknown | 0.142 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | IL13-Q144R | het unknown | 0.766 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 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 | AX746964-G175Shift | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | AX746964-K166I | het unknown | 0.628 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | COL9A2-L335V | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GIN1-T239M | homozygous | 0.267 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
| 0.5 | GIN1-P139R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.916 (probably damaging) |
| 0.5 | AGGF1-D589Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | AP3B1-V585E | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-L1093F | het unknown | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N2584S | het unknown | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E3471K | het unknown | 0.834 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-S3646P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E3867K | het unknown | 0.356 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E5344G | homozygous | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V5427M | homozygous | 0.918 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V5876I | het unknown | 0.424 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LIX1-P21L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (probably damaging) |
| 0.5 | LEPR-K109R | homozygous | 0.332 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.026 (benign), Testable gene in GeneTests |
| 0.5 | LEPR-Q223R | homozygous | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests |
| 0.5 | GLMN-K53Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests |
| 0.5 | KCNA2-F365S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | CPN2-Q509R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | CPN2-Q509R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | FGFR3-P451S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | COL11A1-P1335L | het unknown | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A1-D46E | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BCL6-A493T | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | BCL6-R459C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | BCL6-E164D | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | USP13-R759G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | TOPBP1-N1042S | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TOPBP1-K457Q | homozygous | 0.709 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TOPBP1-R309C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.928 (probably damaging) | |
| 0.5 | PPP2R3A-G78R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.941 (probably damaging) |
| 0.5 | PPP2R3A-A171S | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SEC22B-D70Y | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SEC22B-T81K | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SEC22B-R107Q | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SEC22B-C129R | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SEC22B-R131* | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | SEC22B-R180H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | SEC22B-H189R | het unknown | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TRIM45-M496T | het unknown | 0.445 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TRIM45-G436E | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | TRIM45-C375Y | het unknown | 0.189 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | DBT-S384G | homozygous | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DPYD-R29C | homozygous | 0.731 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | UGT2A1-V391I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.032 (benign) | |
| 0.5 | UGT2A1-E380K | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | UGT2A1-L197S | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.791 (possibly damaging) |
| 0.5 | UGT2A1-Y188H | het unknown | 0.087 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.021 (benign) |
| 0.5 | UGT2A1-R75K | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ENAM-S1107N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AFM-R549S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | FGF5-W81C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
| 0.5 | SPATA18-I57F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | SPATA18-S227P | homozygous | 0.311 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.27 (possibly damaging) |
| 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 | EVC-Y258H | homozygous | 0.721 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 0.5 | EVC-T449K | het unknown | 0.871 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZNF518B-S523N | homozygous | 0.985 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF518B-H266Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.987 (probably damaging) |
| 0.5 | ZNF518B-G262A | homozygous | 0.183 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | CLNK-P31L | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | PITRM1-Q1037R | homozygous | 0.730 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PITRM1-L883F | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | PITRM1-V621I | het unknown | 0.087 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.782 (possibly damaging) |
| 0.5 | PITRM1-A397V | homozygous | 0.630 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PITRM1-I328V | homozygous | 0.635 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PITRM1-F169S | het unknown | 0.131 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.939 (probably damaging) |
| 0.5 | PITRM1-L145V | het unknown | 0.054 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ALG2-V367A | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALG2-S11P | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1-M32K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.634 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1-P96Q | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1-K192E | homozygous | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1-A547S | het unknown | 0.164 | Complex/Other benign | Low clinical importance, uncertain | Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal. |
| 0.5 | RPGRIP1-E1033Q | homozygous | 0.256 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TUBB1-Q43P | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.877 (probably damaging) |
| 0.5 | GNAS-A269T | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KIAA1755-R1045W | het unknown | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | KIAA1755-R510* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | ADAMTSL3-H146R | het unknown | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.5 | ADAMTSL3-L290V | homozygous | 0.833 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ADAMTSL3-V661L | het unknown | 0.711 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ADAMTSL3-G713R | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | ADAMTSL3-L869F | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.148 (benign) |
| 0.5 | ADAMTSL3-T1660I | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | ETFA-T171I | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.5 | FBN1-C472Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.5 | HEXA-I436V | homozygous | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYCP2-M1003T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SYCP2-T751I | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | BLM-P868L | het unknown | 0.057 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.595 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | BLM-V1321I | het unknown | 0.052 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IGF1R-N284Y | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.535 (possibly damaging), Testable gene in GeneTests |
| 0.5 | CD19-L174V | homozygous | 0.876 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SALL1-V1275I | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1L-T1143S | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC5A11-F36L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | EEF2K-Q361R | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EEF2K-D609N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | CHTF18-K244R | het unknown | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CHTF18-R565W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.9 (probably damaging) |
| 0.5 | CHTF18-P928L | het unknown | 0.152 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | GFER-F166L | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRSS21-Y211Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | SLX4-A1221V | het unknown | 0.058 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.263 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLX4-P1122L | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLX4-A952M | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLX4-L671S | het unknown | 0.058 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLX4-N457K | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLX4-M386V | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLX4-R204C | het unknown | 0.064 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC28A2-P22L | homozygous | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC28A2-S75R | homozygous | 0.253 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | TAF4-Q479H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | CYP2A7-V479G | homozygous | 0.787 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP2A7-R381W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CYP2A7-M368T | het unknown | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | CYP2A7-R311C | homozygous | 0.472 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CYP2A7-H274R | homozygous | 0.852 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.5 | CYP2A7-S153A | homozygous | 0.540 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP2A7-C64R | homozygous | 0.557 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP2A7-F61I | homozygous | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RDH12-R161Q | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.941 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | BRWD1-L1699P | homozygous | 0.848 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BRWD1-Q1175* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | SYNE2-M1969T | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2284V | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-S2359N | homozygous | 0.676 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2395T | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-S2802G | homozygous | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-I2942V | homozygous | 0.622 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-D3253H | homozygous | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-L5186M | het unknown | 0.708 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | UMODL1-R447Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.991 (probably damaging) | |
| 0.5 | UMODL1-R447Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.991 (probably damaging) | |
| 0.5 | UMODL1-M559T | het unknown | 0.746 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | UMODL1-Q665* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | UMODL1-R691G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | UMODL1-T741P | het unknown | 0.371 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UMODL1-I767T | homozygous | 0.734 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UMODL1-D1336N | het unknown | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AKAP6-E892K | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | AKAP6-A1492V | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AKAP6-N2035D | homozygous | 0.756 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.025 (benign) |
| 0.5 | AKAP6-F2171Y | het unknown | 0.294 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.5 | FANCM-L526V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.792 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RRP1-R323H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) | |
| 0.5 | WDHD1-P638A | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | CBR3-V244M | homozygous | 0.398 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.014 (benign) |
| 0.5 | ZFYVE26-N1891S | homozygous | 0.900 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZFYVE26-T898S | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests |
| 0.5 | THBS1-N700S | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | COL9A3-P296L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 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 | GTPBP5-G47S | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GTPBP5-H262Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ZGPAT-S61R | homozygous | 0.961 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZGPAT-R334* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | LIME1-L250P | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | MLH3-P844L | het unknown | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MLH3-N826D | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KCNE1-S38G | homozygous | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-T641A | homozygous | 0.892 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-I562T | homozygous | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TPTE-L470P | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TPTE-K386E | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TPTE-R229* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | TPTE-R195Q | het unknown | 0.346 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FHOD1-P533L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | TMEM90B-P129L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.859 (probably damaging) |
| 0.5 | LOXHD1-R1090Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | MYO5B-K307N | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO5B-T126A | homozygous | 0.945 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ATP8B1-A1152T | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMA3-S2834G | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LPIN2-D885L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ITGB4-L1779P | homozygous | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SEPT9-P145L | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.926 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USP36-KK959Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | USP36-R828C | het unknown | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | USP36-Q806R | het unknown | 0.563 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | USP36-V271I | het unknown | 0.326 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | USP36-H200N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | CARD14-M752Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CTDP1-T340M | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | JSRP1-D313Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | JSRP1-G150A | het unknown | 0.323 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.831 (possibly damaging) |
| 0.5 | FCHO1-R186Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (probably damaging) |
| 0.5 | COPE-D105H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.971 (probably damaging) |
| 0.5 | PRODH2-P91R | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests |
| 0.5 | CEACAM5-A46T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | CEACAM5-K398E | het unknown | 0.881 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UNC13A-L1121P | homozygous | 0.992 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UNC13A-A447T | homozygous | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UNC13A-A53Shift | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | STXBP2-I526V | homozygous | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BCAM-R77H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests |
| 0.5 | BCAM-V196I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | BCAM-T539A | homozygous | 0.261 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | TYK2-P1104A | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.5 | TYK2-V362F | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | MAN2B1-R337Q | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MAN2B1-T312I | het unknown | 0.324 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MAN2B1-L278V | homozygous | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN54-K347N | homozygous | 0.430 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN54-A437V | homozygous | 0.515 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GGA3-E219G | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.969 (probably damaging) |
| 0.5 | CTNS-T260I | homozygous | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO15A-E1433K | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | MYO15A-C1977R | homozygous | 0.746 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PNKP-P20S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.471 (possibly damaging), Testable gene in GeneTests |
| 0.5 | MYH14-A1250E | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | PTPRH-I1076V | het unknown | 0.402 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | PTPRH-R1038Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PTPRH-K823E | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTPRH-V243I | het unknown | 0.097 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.02 (benign) |
| 0.5 | ZDHHC1-R124Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.905 (probably damaging) |
| 0.5 | CRNKL1-Q111H | het unknown | 0.709 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | CRNKL1-R52W | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.854 (probably damaging) |
| 0.5 | CRNKL1-F51L | het unknown | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.497 (possibly damaging) |
| 0.5 | CRNKL1-G35R | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RANBP10-V615A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.974 (probably damaging) |
| 0.5 | CRLS1-P193L | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | GPR179-P1977H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.614 (possibly damaging) |
| 0.5 | GPR179-K1150E | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GPR179-R884W | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | MED1-C1266S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.858 (probably damaging) |
| 0.5 | SCN4A-N1376D | homozygous | 0.604 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN4A-M897I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | SCN4A-S524G | homozygous | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COG1-N392S | homozygous | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SIX5-V693M | homozygous | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SIX5-L556V | homozygous | 0.833 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAI2-A558T | homozygous | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAI2-P572L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.79 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | EMP3-I125V | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.878 (probably damaging) |
| 0.5 | FUT2-W154* | het unknown | 0.364 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | FUT2-G258S | het unknown | 0.390 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.954 (probably damaging) |
| 0.5 | KRT14-C63Y | homozygous | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HSD17B14-R130W | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | BCAT2-P215R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.5 | COL1A1-T1075A | homozygous | 0.961 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MTHFD1-K134R | homozygous | 0.846 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MTHFD1-R653Q | het unknown | 0.320 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign) |
| 0.5 | VWF-Q852R | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-T789A | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-H484R | het unknown | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-N318K | het unknown | 0.230 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | BC112980-K147Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | OR5A1-I52V | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.974 (probably damaging) |
| 0.5 | OR5A1-D183N | het unknown | 0.607 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | TMEM132A-R278Q | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | TMEM132A-E825K | het unknown | 0.453 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TMEM132A-A970V | het unknown | 0.432 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PEX16-V116I | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC35A2-P15T | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.891 (probably damaging) |
| 0.5 | ARR3-P351R | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ZDHHC13-K99R | homozygous | 0.579 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZDHHC13-Y392C | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | CLCN5-R309C | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AHNAK-G5242R | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.963 (probably damaging) |
| 0.5 | AHNAK-Q3003K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MEN1-T546A | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDON-I1221N | homozygous | 0.844 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CDON-E242K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | CDON-V75I | homozygous | 0.577 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | WNK1-T665I | het unknown | 0.067 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-T1056P | homozygous | 0.838 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-C1506S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-T1706A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-M1808I | homozygous | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NDUFA9-P294L | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | DMD-R2937Q | het unknown | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-D882G | homozygous | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATM-N1983S | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC25A45-R285C | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.987 (probably damaging) |
| 0.5 | SLC25A45-M224V | homozygous | 0.942 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TSGA10IP-R302* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | TSGA10IP-M520V | homozygous | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAM86C-V70A | homozygous | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAM86C-C129R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) | |
| 0.5 | FAM86C-G141R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.679 (possibly damaging) |
| 0.5 | DYNC2H1-N1576K | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DYNC2H1-R2871Q | homozygous | 0.705 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | INSC-R36H | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.319 (possibly damaging) |
| 0.5 | INSC-D333N | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | INSC-Q462R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.854 (probably damaging) |
| 0.5 | TRIM22-D155N | het unknown | 0.435 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.024 (benign) |
| 0.5 | TRIM22-R321K | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | GABRE-P153L | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | GABRE-S102A | homozygous | 0.660 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.902 (probably damaging) |
| 0.5 | UNC5B-V381M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.956 (probably damaging) |
| 0.5 | CDH23-S494N | homozygous | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-N1349D | homozygous | 0.772 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-A1572T | homozygous | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-R1801Q | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-E2041K | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-R2355Q | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-P2377L | het unknown | 0.338 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CHAT-A120T | het unknown | 0.149 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CHAT-V461M | homozygous | 0.927 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PPYR1-V276M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.889 (probably damaging) | |
| 0.5 | PTCHD3-*768Q | homozygous | 0.570 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-I584M | homozygous | 0.963 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-M521T | homozygous | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-D473G | homozygous | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.849 (possibly damaging) |
| 0.5 | PTCHD3-C407G | het unknown | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PTCHD3-S309Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | KIAA1462-R957G | homozygous | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.109 (benign) |
| 0.5 | KIAA1462-E24K | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | SPRY3-E179A | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | FAM58A-E242G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | FAM58A-T238A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | IDS-V223I | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.594 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MAGEC1-T221S | het unknown | 0.368 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MAGEC1-S223R | het unknown | 0.341 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MAGEC1-F225S | het unknown | 0.341 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MAGEC1-L424F | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MAGEC1-A434T | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MAGEC1-R917W | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | KNDC1-E436G | homozygous | 0.378 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KNDC1-P867L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.913 (probably damaging) |
| 0.5 | NOX1-D360N | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | ATP7A-E1350K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MKI67-I2101T | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.02 (benign) |
| 0.5 | MKI67-R123H | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | MKI67-N104S | het unknown | 0.618 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.417 (possibly damaging) |
| 0.5 | ARMS2-R38* | homozygous | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation, Testable gene in GeneTests |
| 0.5 | CYP2C8-I264M | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.951 (probably damaging) |
| 0.5 | F9-T194A | het unknown | 0.144 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | F9-R449W | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HABP2-T50M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | WDR11-E988K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | MYO7A-S1666C | homozygous | 0.610 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO7A-L1954I | homozygous | 0.552 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RAPGEF3-Y457C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | RAPGEF3-G374S | het unknown | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.293 (possibly damaging) |
| 0.5 | RAPGEF3-R193G | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RAPGEF3-A16P | homozygous | 0.247 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.14 (benign) |
| 0.5 | GNB3-G272S | het unknown | 0.027 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.184 (benign) |
| 0.5 | HPS4-Q620H | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-H601Y | homozygous | 0.807 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-V547M | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-E224G | homozygous | 0.779 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BEST3-Y43H | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | GLT8D2-M273V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | KRT72-D366E | het unknown | 0.176 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.042 (benign) |
| 0.5 | KRT72-E127K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | KRT71-R305C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | KRT71-E122K | homozygous | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.038 (benign) |
| 0.5 | KRT71-V107I | homozygous | 0.180 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SEC14L3-D335E | homozygous | 0.828 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SEC14L3-R214H | het unknown | 0.233 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SEC14L3-I103T | homozygous | 0.465 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | SEC14L3-L88P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.376 (possibly damaging) |
| 0.5 | SEC14L3-R63W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | SLC11A2-S66N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | KRT83-H493Y | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT83-I279M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | KRT5-G543S | homozygous | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CMKLR1-I62S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.954 (probably damaging) | |
| 0.5 | SLC24A6-C559Y | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.942 (probably damaging) |
| 0.5 | FNDC3A-T1017A | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | ARL11-G65V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ARL11-C148R | homozygous | 0.251 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.153 (benign) |
| 0.5 | NR_028064-G139Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NR_028064-H49Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_028064-H41Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | TEP1-I2486M | het unknown | 0.373 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-V2214I | het unknown | 0.326 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-S1195P | homozygous | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-R1055C | homozygous | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-N307K | het unknown | 0.369 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-S116P | homozygous | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SEZ6L-W185L | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | SEZ6L-P199A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.881 (probably damaging) |
| 0.5 | SEZ6L-M430I | het unknown | 0.205 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.712 (possibly damaging) |
| 0.5 | B3GALTL-E370K | homozygous | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SDS-K21T | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CCDC60-R131C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | ZNF84-K550R | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (probably damaging) |
| 0.5 | SACS-N232K | het unknown | 0.083 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HELB-L191P | het unknown | 0.503 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HELB-D506G | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | HELB-E522Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CAPRIN2-M519V | homozygous | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | CAPRIN2-P114S | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | BAIAP2L2-R529C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | SEC14L4-E211D | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.94 (probably damaging) |
| 0.5 | SEC14L4-S3G | het unknown | 0.185 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CELSR1-R2326W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | CELSR1-C1126R | homozygous | 0.937 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CELSR1-S664W | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.673 (possibly damaging) |
| 0.5 | SHANK3-I245T | homozygous | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTLL12-V464M | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.932 (probably damaging) |
| 0.5 | TTLL12-L318F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | TTLL12-V297M | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TTLL12-N95S | het unknown | 0.091 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | TTLL12-P93L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | PUS7L-V197L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.899 (probably damaging) |
| 0.5 | LRRK2-R50H | homozygous | 0.927 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-N2081D | het unknown | 0.024 | Unknown benign | Low clinical importance, uncertain | Reported as a rare, nonpathogenic variant. |
| 0.375 | NAT2-I114T | het unknown | 0.220 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.375 | NAT2-R268K | het unknown | 0.675 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | CASQ2-T66A | het unknown | 0.427 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | C20orf186-R138* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | C20orf186-I268V | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C20orf186-N320T | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PLOD1-A99T | het unknown | 0.313 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KCNQ4-H455Q | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | KAL1-V534I | het unknown | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | AGL-P1067S | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ZNF224-M118V | het unknown | 0.793 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF224-H162L | het unknown | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging) |
| 0.25 | ZNF224-K640E | het unknown | 0.593 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | LRP2-I4210L | het unknown | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.993 (probably damaging) |
| 0.25 | LRP2-K4094E | het unknown | 0.744 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | LRP2-R3646H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.016 (benign) |
| 0.25 | LRP2-A2872T | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LRP2-N83S | homozygous | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | CACNA1S-R1658H | het unknown | 0.111 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CACNA1S-L458H | het unknown | Unknown benign | Low clinical importance, likely | Common polymorphism | |
| 0.25 | ZNF804A-Y4Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ZNF804A-Q261L | het unknown | 0.611 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF804A-E542K | het unknown | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF804A-T697TT | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ZNF804A-T707K | het unknown | 0.455 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF804A-H747R | het unknown | 0.729 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | STIL-H985R | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | STIL-A86V | het unknown | 0.633 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FRZB-R324G | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.993 (probably damaging) |
| 0.25 | FRZB-A30S | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.16 (benign) |
| 0.25 | ARSE-G424S | het unknown | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CPT2-V368I | het unknown | 0.477 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PCNT-T539I | het unknown | 0.147 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 0.25 | PCNT-G704E | het unknown | 0.855 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-T879A | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests |
| 0.25 | PCNT-V1038A | het unknown | 0.847 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-R1163C | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.25 | PCNT-I1639V | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-Q2659H | het unknown | 0.572 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests |
| 0.25 | PCNT-Q2792R | het unknown | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.25 | FMO3-E158K | het unknown | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FMO3-E308G | het unknown | 0.104 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | C1orf173-V1528M | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C1orf173-L1056V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C1orf173-L851Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | C1orf173-P264A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ASTN1-H934Q | het unknown | 0.817 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ASTN1-H924R | het unknown | 0.824 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ASTN1-W458C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ASTN1-W458Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MCEE-A76V | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PINK1-N521T | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | RYR2-Q2958R | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TRIOBP-S217N | het unknown | 0.413 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests |
| 0.25 | TRIOBP-N863K | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.25 | TRIOBP-F1187L | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests |
| 0.25 | TRIOBP-H1300R | homozygous | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.25 | TRIOBP-E1372D | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests |
| 0.25 | TRIOBP-W1377R | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.084 (benign), Testable gene in GeneTests |
| 0.25 | FPR1-E346A | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FPR1-N192K | het unknown | 0.516 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FPR1-V101L | het unknown | 0.336 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FPR1-I11T | het unknown | 0.831 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | TRIB3-Q84R | het unknown | 0.188 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | PCNXL2-R1984Q | homozygous | 0.219 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.048 (benign) |
| 0.25 | PCNXL2-S1901N | homozygous | 0.183 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PCNXL2-A15Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | XIAP-Q423P | het unknown | 0.277 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | GLI2-A1156S | het unknown | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GLI2-D1306N | het unknown | 0.595 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDA-K27Q | het unknown | 0.190 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | COL6A2-S399N | het unknown | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CD3EAP-Q504K | het unknown | 0.284 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign) |
| 0.25 | SULT1C4-D5E | het unknown | 0.371 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | UGT2B15-K523T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | UGT2B15-Y85D | het unknown | 0.500 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | NIPAL4-R213G | het unknown | 0.505 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | NPSR1-N107I | het unknown | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | PLG-D472N | het unknown | 0.151 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | SOD2-V16A | het unknown | 0.362 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | TXNDC3-C208R | het unknown | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TXNDC3-I493T | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | GLI3-P998L | het unknown | 0.444 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL1A2-P549A | het unknown | 0.907 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLCO1B3-S112A | het unknown | 0.646 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | SLCO1B3-M233I | het unknown | 0.659 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.131 (benign) |
| 0.25 | SLCO1B1-N130D | het unknown | 0.663 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | SLC22A16-M409T | het unknown | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.25 | SLC22A16-V252A | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.609 (possibly damaging) |
| 0.25 | SLC22A16-H49R | het unknown | 0.333 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MUT-R532H | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MUT-A499T | het unknown | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TRIM15-E84Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.553 (possibly damaging) |
| 0.25 | TRIM15-S324N | het unknown | 0.155 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | ATXN1-P753S | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PRX-V882A | het unknown | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SIX6-H141N | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CYP21A2-R103K | het unknown | 0.216 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SUCLA2-S199T | het unknown | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-V1140A | het unknown | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-R952K | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-K832R | het unknown | 0.455 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-V456L | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-S406A | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL11A2-E276K | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | PON2-S311C | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PON2-A148G | het unknown | 0.257 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | NR_002144-DDDFE68Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NR_002144-SE75P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NR_002144-L77Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | NR_002144-Q280R | homozygous | 0.858 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NR_002144-Y307H | homozygous | 0.858 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NR_002144-L312R | homozygous | 0.856 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PLCE1-R548L | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.25 | CALHM1-L86P | het unknown | 1.000 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | TRPM6-K1584E | het unknown | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests |
| 0.25 | PDE6C-S270T | het unknown | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDK5RAP2-V1540L | het unknown | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDK5RAP2-E289Q | het unknown | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DBH-A211T | het unknown | 0.115 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | RET-G691S | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | PCDH15-D440A | het unknown | 0.343 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PCDH15-S19A | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL17A1-M703V | het unknown | 0.672 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL17A1-T210M | het unknown | 0.557 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | H19-G355R | het unknown | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | DPAGT1-I393V | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CLCN1-G118W | het unknown | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SNX19-L878R | het unknown | 0.808 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | SNX19-N753S | het unknown | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SNX19-L618F | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SNX19-V361L | het unknown | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PTPRJ-Q276P | het unknown | 0.173 | Complex/Other not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.007 (benign) |
| 0.25 | PTPRJ-R326Q | het unknown | 0.249 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.25 | SLC35C1-I227V | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PLEC-H1459R | het unknown | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TG-S734A | het unknown | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TG-M1028V | het unknown | 0.696 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.25 | TG-D1312G | homozygous | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TG-D1838N | het unknown | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
| 0.25 | TG-R1999W | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | USH1C-E819D | het unknown | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TMEM67-I604V | het unknown | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PROP1-A142T | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SPATA7-V74M | het unknown | 0.412 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BC033456-K101E | homozygous | 0.969 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | BC033456-Q54Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | HGD-Q80H | het unknown | 0.742 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | XYLT2-P418L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.137 (benign) |
| 0.25 | XYLT2-T801R | het unknown | 0.225 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | BRCA1-S1634G | het unknown | 0.292 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BRCA1-R1347G | het unknown | 0.006 | Unknown benign | Low clinical importance, uncertain | Believed to be a nonpathogenic polymorphism, although Polyphen 2 predicts a damaging effect. |
| 0.25 | BRCA1-K1183R | het unknown | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BRCA1-E1038G | het unknown | 0.265 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | BRCA1-P871L | het unknown | 0.555 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FAM83G-D819DH | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | FAM83G-E20* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | LRRC50-K393R | het unknown | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | LRRC50-P502L | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | LRRC50-L633S | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LRRC50-L659V | het unknown | 0.112 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | LRRC50-L659P | het unknown | 0.352 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LRRC50-S675T | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FANCA-M717I | het unknown | 0.016 | Unknown benign | Low clinical importance, likely | Rare polymorphism, not considered pathogenic. |
| 0.25 | FANCA-G501S | het unknown | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NR_027336-P160L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NR_027336-W23* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | MYH15-T1125A | het unknown | 0.180 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.007 (benign) |
| 0.25 | MYH15-H504Y | homozygous | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
| 0.25 | MYH15-R454Q | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.25 | FLNB-V1471M | het unknown | 0.607 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATIC-T116S | het unknown | 0.184 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.25 | CPS1-T344A | het unknown | 0.583 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CASP10-L522I | het unknown | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NOTCH3-A2223V | het unknown | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NOTCH3-P496L | het unknown | 0.023 | Unknown benign | Low clinical importance, uncertain | Presumed benign, seen in two healthy PGP participants. |
| 0.25 | COL4A4-S1400P | het unknown | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A4-V1327M | het unknown | 0.464 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A4-P1004L | het unknown | 0.528 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A4-P482S | het unknown | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PLXNB1-L2135Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PLXNB1-D2134G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | GAA-H199R | het unknown | 0.574 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GAA-V780I | het unknown | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | XPC-A499V | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ZNF317-Q19H | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.25 | ZNF317-Q19H | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.25 | WFS1-V333I | het unknown | 0.889 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC28A1-L140LV | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | SLC28A1-D521N | het unknown | 0.226 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | APC-V1822D | het unknown | 0.887 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BBS4-I354T | het unknown | 0.399 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-K1516R | het unknown | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-R1826H | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-F2301Y | het unknown | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-D2937Y | het unknown | 0.352 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SPG11-F463S | het unknown | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | ATXN3-V212M | het unknown | 0.358 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SERPINA1-E400D | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SERPINA1-V237A | het unknown | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SERPINA1-R125H | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDAN1-R891C | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDAN1-Q596R | het unknown | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GHR-I544L | het unknown | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.25 | TLR6-S249P | het unknown | 0.855 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | FANCI-C742S | het unknown | 0.234 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PKD1L2-M2313I | homozygous | 0.883 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-S2207R | homozygous | 0.985 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-S2137F | homozygous | 0.870 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-L2117I | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Y2079Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PKD1L2-A2054T | het unknown | 0.185 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-M1866V | homozygous | 0.957 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-G1847R | het unknown | 0.373 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Q1701H | het unknown | 0.294 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-S1665Y | het unknown | 0.114 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-K1575* | het unknown | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.25 | PKD1L2-N1330D | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-S1326P | homozygous | 0.734 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Q999H | homozygous | 0.266 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-R998C | homozygous | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-L711P | homozygous | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-P512L | homozygous | 0.751 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-K416Q | homozygous | 0.788 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-P301A | homozygous | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-R252W | het unknown | 0.560 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-E221G | homozygous | 0.708 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Q220* | het unknown | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.25 | PKD1L2-V183I | het unknown | 0.212 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-G129D | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Q120L | het unknown | 0.451 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-W73R | het unknown | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-V20A | het unknown | 0.548 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC2A9-P350L | homozygous | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SLC2A9-R294H | het unknown | 0.296 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.25 | DHODH-K7Q | het unknown | 0.560 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.004 (benign) |
| 0.25 | PTF1A-S263P | het unknown | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests |
| 0.25 | PIGQ-R27Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PIGQ-D4Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MYH11-A1241T | het unknown | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0 | CLEC7A-Y238* | het unknown | 0.043 | Recessive pathogenic | Low clinical importance, uncertain | This variant has been found to impair homan mucosal antifungal defense and was implicated in vulvovaginal candidiasis and mucocutaneous infections in a Dutch family. |
| 0 | ITPA-P32T | het unknown | 0.084 | Recessive pharmacogenetic | Low clinical importance, well-established | This variant is associated with inosine triphosphate pyrophosphohydrolase deficiency and may be associated with an adverse reaction to thiopurine drugs (which are used as immunosuppressants). Homozygotes have no detectable ITPase activity, individuals compound heterozygous with another less severe mutation also have severely reduced enzyme activity. |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,717,226,388 bases (95.9% of callable positions, 89.9% of total positions)
Coding region coverage: 31,497,005 bases (94.8% of all genes, 96.0% 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