hu43860C - GET-Evidence variant report

Variant report for hu43860C

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1SERPINA1-E366KHighWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
0.0117122This is also called the "Pi Z" or "Z" allele. When homozygous (acting in a recessive manner) this variant is the major cause of severe alpha-1-antitrypsin deficiency (95% of cases) which often leads to emphysema or chronic obstructive pulmonary disease (COPD) and liver disease in adults and children. Heterozygosity for this variant may also be associated with increased rate of lung or liver problems, especially when combined with another variant with reduced function (compound heterozygous).1
2BBS7-D412GHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0019564Predicted to have damaging effect, other mutations in this gene have been implicated in causing Bardet-Biedl syndrome in a recessive manner.1
3C3-R102GModerateLikelyLikely pathogenic

Complex/Other, Heterozygous
0.152073This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%.1
4WFS1-C426YModerateUncertainUncertain pathogenic

Dominant, Heterozygous
0.0012084Reported in a single case of familial depression, but no linkage data and no statistical significance.1
5MYO1A-S797FModerateUncertainUncertain pathogenic

Dominant, Heterozygous
0.00474066Although reported to cause dominant, early-onset sensorineural hearing loss, this variant has been reported in the genome of an unaffected PGP participant.1
6SIAE-M89VModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0400632This variant was reported to be associated with autoimmune disease when homozygous. However, a later publication has contradicted this result, finding no significant association between this variant and autoimmune disease in a very large cohort.1
7FIG4-K278ShiftModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0078125This variant is predicted to cause a frameshift and may cause Charcot-Marie-Tooth Disease Type 4J in an autosomal recessive manner. Other variants in this gene which cause frameshift and premature termination have been implicated in causing this disease when compound heterozygous with another FIG4 variant.1
8SERPINA1-E288VLowWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
0.0304889This variant represents the PiS variant in alpha-1-antitrypsin deficiency where a homozygous individual has 60% enzymatic activity. This variant alone is unlikely to much effect, but 3-4% of heterozygotes are compound heterozygous with the more severe PiZ variant, which is associated with an increased risk of emphysema and COPD.1
9MTRR-I49MLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.451199This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.1
10TLR5-R392XLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.0439673This variant is believed to impair the ability to generate an immune response to the flagella of the bacteria. It is weakly associated with an increased incidence of Legionnaires' Disease, p = 0.085, increased lifetime risk of disease ~0.88% (about twice average). The variant is also weakly associated with a reduced incidence of systemic lupus erythematosus, p = 0.165.1
11RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.278026Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.1
12WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Carrier (Heterozygous)
0.400446This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.).1
13ACAD8-S171CLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.018312This variant (a.k.a S149C) was found as a compound heterozygote (with M130T) in a male newborn of European descent with isobutyryl-CoA dehydrogenase deficiency (identified by newborn screening). Lack of controls means that significance cannot be established and allele frequency cannot be estimated. Oglesbee et al. comment that IBD-deficiency may be relatively benign, most cases identified by newborn screening have remained asymptomatic, but Ferreira et al. report a symptomatic individual homozygous for this variant.1
14SP110-L425SLowUncertainUncertain pathogenic

Unknown, Homozygous
0.863357This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.1
15HFE-H63DLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.109965There have been some hypotheses that this variant contributes to causing hereditary hemochromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles.1
16CYP2C9-R144CModerateWell-establishedWell-established pharmacogenetic

Unknown, Heterozygous
0.0970982This variant, also called CYP2C9*2, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is associated with Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant.1
17rs1544410LowUncertainUncertain pharmacogenetic

Unknown, Homozygous
0.351562rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. 1
18FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Carrier (Heterozygous)
0.490519This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors.1
19IL7R-T244ILowLikelyLikely protective

Unknown, Heterozygous
0.210169The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000).1
20KCNJ11-K23ELowLikelyLikely protective

Unknown, Homozygous
0.738148This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.1
21LIG4-A3VLowUncertainUncertain protective

Dominant, Heterozygous
0.035843One report has associated this with a decreased risk of multiple myeloma.1
22DTNBP1-P272SLowUncertainUncertain protective

Recessive, Carrier (Heterozygous)
0.0351366Possibly a slight protective effect against colorectal cancer if homozygous.1
23ARSA-N350SLowWell-establishedWell-established benign

Unknown, Heterozygous
0.183199This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability.1
24ADA-K80RLowLikelyLikely benign

Recessive, Carrier (Heterozygous)
0.0635806This variant has a 3.5% allele frequency in 1000 genomes data. Although OMIM links this to disease, the paper they reference uses in vitro data to conclude that this is a functionally neutral polymorphism.1
25RYR2-G1885ELowLikelyLikely benign

Recessive, Carrier (Heterozygous)
0.0179176Hypothesized to cause arrhythmogenic right ventricular cardiomyopathy when compound heterozygous with G1886S. However, this variant is quite common (2.4% in Europeans), as is G1886S (3.1% in Europeans), and about 1 in 700 are compound heterozygous. This is highly discordant with a disease prevalence of 1 in 2500 to 5000, and notably G1886S is reported in ClinVar as benign. We should consider the original hypothesis disproven.1
26MSH2-G322DLowLikelyLikely benign

Unknown, Heterozygous
0.0110615Although other variants in this mismatch repair gene are associated with cancer, most publications dismiss this variant as a polymorphism (HapMap allele frequency of 1.6%).1
27FANCI-P55LLowLikelyLikely benign

Unknown, Heterozygous
0.0507529Probably benign.1
28CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
29COL9A2-T246MLowLikelyLikely benign

Unknown, Heterozygous
0.0252835Probably benign.1
30PKD1-A4059VLowLikelyLikely benign

Unknown, Heterozygous
0.0570413Probably benign.1
31COL5A2-P460SLowUncertainUncertain benign

Unknown, Heterozygous
0.0400632Tentatively benign. Although predicted to be damaging by Polyphen 2, this variant is seen in 2 out of 62 PGP & public genomes. OMIM lists other more disruptive variants (frameshift & nonsense) as reported to cause Ehlers-Danlos syndrome when homozygous.1
32TCIRG1-R56WLowUncertainUncertain benign

Unknown, Heterozygous
0.0441778Probably benign. One publication implicates the variant in causing osteopetrosis, but this is contradicted by the relatively high allele frequency for the variant in Caucasians (5%, 1 in 400 homozygous) while that disease is extremely rare (1 in 250,000).1
33TXNDC3-I338TLowUncertainUncertain benign

Unknown, Homozygous
0.0377604Tentatively classified as benign, but predicted to be damaging and other variants in this gene are implicated in causing primary ciliary dyskinesia (situs inversus, chronic sinusitis, and bronchiectasis).1
34TYR-S192YLowUncertainUncertain benign

Unknown, Homozygous
0.270682This 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
35TPCN2-G734ELowUncertainUncertain benign

Unknown, Homozygous
0.286166Pigmentation allele.1
36PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
37MAPT-R370WLowUncertainUncertain benign

Unknown, Homozygous
0.155549Probably benign.1
38LYST-R159KLowUncertainUncertain benign

Unknown, Heterozygous
0.0078125Rare and unreported, tentatively evaluated as benign. Some severe mutations in this gene cause Chediak-Higashi syndrome (a severe genetic disorder causing albinism, neuropathy, and life-threatening susceptibility to bacterial infections), but this disease is rare and there are many other genomes with rare missense polymorphisms.1
39DSP-R1537CLowUncertainUncertain benign

Unknown, Heterozygous
0.0104109Probably benign / nonpathogenic.1
40MUSK-T100MLowUncertainUncertain benign

Unknown, Heterozygous
0.023413Probably benign.1
41PKP2-L366PLowUncertainUncertain benign

Unknown, Heterozygous
0.221231This variant is a benign polymorphism. 1
42APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
43RP1-N985YLowUncertainUncertain benign

Unknown, Homozygous
0.348671Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.1
44CASP8-M1TLowUncertainUncertain benign

Unknown, Heterozygous
0.0310451Probably benign. Although start codons can be extremely disruptive and this gene is implicated in a rare disease (autoimmune lymphoproliferative syndrome), the allele frequency for this variant (2-3%) is high enough to contradict such a strong pathogenic effect. This may be because the gene has many other transcripts that do not include this position as exonic.1
45SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31423435 / 33282720 = 94.41%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.718800912349317266138955553-955753, 957646, 957793, 976051-976103, 976106-976111, 976125-976164, 976169-976173, 976178-976180, 976193-976260, 976553-976777, 976858-976871, 976889-976891, 976894-976896, 976911-976949, 977024, 977028, 977041, 977050-977082, 977353-977387, 977428-977429, 977529, 978709, 978719-978720, 978762, 978935-978936, 978939, 978952-978956, 978961, 979205, 979345-979383, 979398-979403, 979554, 981589, 981630, 981633-981641, 981777-982051, 982061, 982074-982076, 982200-982209, 982243-982256, 982264-982280, 982307-982309, 982324, 983247, 983397, 983406-983433, 983437-983439, 983444-983449, 983465-983468, 983472-983519, 983550-983745, 984316-984319, 984340-984349, 984368-984370, 984380, 984423-984439, 984631-984632, 984679-984684, 984692-984696, 984738-984750, 984949-984951, 985014-985057, 985077, 985108, 985111, 985116, 985120-985121, 985367-985404, 985621, 985630-985633, 985668-985670, 985684-985687, 985847, 986180-986191, 986209-986217, 986653, 986663-986688, 986691, 986738-986739, 986833-986862, 986884-986920, 986957-986959, 986963-986965, 986984-986985, 987120, 990246-990248, 990257-990261, 990270-990275, 990279-990280
2GABRD10.9256806475349510113591950863-1950930, 1956774, 1957002, 1957005-1957008, 1957019, 1957037, 1959666, 1959669, 1959709, 1961050, 1961185, 1961189-1961191, 1961429-1961437, 1961470, 1961491-1961494, 1961501-1961503
3PEX1010.799184505606521979812337923-2337933, 2337939-2337947, 2337989-2337995, 2339891-2339918, 2340009-2340018, 2340037-2340043, 2340156-2340158, 2340166-2340170, 2340200, 2340204, 2340219-2340221, 2343830-2343941
4NPHP410.9745386591917810942815923973-5923975, 5934531-5934535, 5934934-5934944, 5935059-5935078, 5935113-5935123, 5935127, 5935134, 5935147-5935154, 5935160, 5937255, 5937258, 5937270-5937272, 5937277-5937290, 5937293, 5951003-5951005, 5969224-5969230, 5969233-5969234, 5969241-5969245, 5969261-5969262, 5969267-5969269, 6007273, 6012890, 6021941-6021943, 6021965
5ESPN10.6366471734892893225656485016-6485224, 6485235-6485245, 6485252-6485291, 6488378-6488392, 6500376, 6500392-6500393, 6500427-6500475, 6500482-6500488, 6500686-6500868, 6505814-6505820, 6505844-6505872, 6505900, 6508718, 6508721, 6508733-6508734, 6508737, 6508741-6508766, 6508775-6508792, 6508800-6509065, 6509072-6509114, 6509124, 6509129, 6509134-6509140, 6520062-6520069, 6520096, 6520103, 6520125
6PLEKHG510.835998745688352331896527937, 6527975-6527976, 6527994-6527997, 6528088, 6528091-6528099, 6528161, 6528164-6528166, 6528169, 6528172-6528173, 6528176, 6528189-6528190, 6528229, 6528235, 6528242, 6529284, 6529450, 6529705-6529712, 6530334-6530352, 6530360-6530367, 6530373, 6530611-6530640, 6530692-6530694, 6530802-6530839, 6530856-6530927, 6531160, 6531578, 6531595-6531597, 6531606, 6531651-6531688, 6532654-6532655, 6534073-6534109, 6534121, 6534133-6534202, 6534210-6534224, 6534511-6534647, 6537680, 6537693, 6557380-6557383
7KIF1B10.9951063429324326531310357016, 10357022-10357027, 10357036-10357043, 10381810-10381811, 10425557-10425558, 10425584-10425590
8PEX1410.9735449735449730113410659348-10659349, 10683122-10683125, 10684414, 10684454, 10689700, 10689790, 10690002-10690005, 10690007, 10690014-10690017, 10690025, 10690029-10690035, 10690038-10690040
9MASP210.9791363415817643206111094886-11094894, 11106757-11106790
10MTHFR10.9868087265347526197111861327-11861339, 11861432-11861438, 11863118-11863123
11PLOD110.973901098901157218411994837-11994876, 12018646-12018650, 12018658-12018660, 12023610-12023614, 12023665, 12023668, 12023673, 12024235
12MFN210.999560246262091227412067137
13CTRC10.98141263940521580715767012-15767017, 15767028-15767033, 15767065, 15771129, 15771138
14CLCNKA10.94912790697674105206416353219-16353224, 16353229, 16353232, 16353242, 16353244, 16353249-16353250, 16353253, 16353261, 16353264-16353270, 16355311, 16356493, 16356956-16356958, 16357003, 16357006, 16357012, 16357018, 16357028-16357031, 16357087-16357114, 16358724-16358734, 16358754-16358774, 16358784-16358786, 16360141-16360148
15CLCNKB10.9646317829457473206416371036-16371039, 16371053, 16371058, 16371064-16371070, 16374533, 16375058-16375059, 16375063-16375064, 16375074, 16378794, 16382957-16383002, 16383399-16383405
16ATP13A210.93282528930285238354317312743, 17312801, 17312815-17312816, 17312996-17313018, 17313317-17313320, 17313329, 17313343, 17313348, 17313375, 17313427, 17313589, 17313598, 17313602-17313609, 17313612, 17313617-17313637, 17313654, 17313700, 17314719, 17314963-17314969, 17318749, 17318769-17318770, 17318773-17318774, 17318803-17318804, 17320222-17320250, 17322562-17322573, 17322581-17322620, 17322935-17322945, 17322973-17322991, 17323561-17323564, 17323631, 17323642, 17326537-17326538, 17326548-17326581
17ALDH4A110.9479905437352288169219200957-19200975, 19202907, 19202913, 19202917, 19202922-19202926, 19202929, 19203936-19203946, 19203974-19203976, 19208199-19208201, 19208204-19208205, 19228956-19228963, 19228983-19229015
18PINK110.77835051546392387174620960042-20960428
19ALPL10.994285714285719157521903897-21903899, 21904073, 21904079, 21904082-21904085
20HSPG210.980722525804492541317622149838, 22149975, 22154583-22154586, 22155555-22155556, 22156529, 22157493, 22157513, 22157516-22157517, 22163429-22163430, 22165419, 22165450, 22165453-22165456, 22165459, 22170754-22170758, 22175457-22175460, 22181104-22181116, 22181252, 22181412-22181476, 22181813-22181815, 22182034-22182059, 22183821-22183823, 22183828, 22183838, 22186334-22186335, 22191482-22191484, 22191491, 22191551-22191557, 22198708-22198710, 22198769, 22199148-22199154, 22199158-22199159, 22199167, 22201205-22201208, 22206646, 22206657-22206663, 22206673-22206674, 22206997-22206998, 22207012, 22207019, 22207021, 22213957, 22263648-22263710
21WNT410.88541666666667121105622446725-22446743, 22446748, 22446842-22446859, 22447704-22447706, 22447996-22447998, 22469339-22469415
22GALE10.997134670487113104724122662, 24122672, 24124263
23HMGCL10.9918200408998897824134743, 24134769-24134775
24FUCA110.89793004996431143140124194389, 24194395, 24194401, 24194404, 24194409, 24194421-24194447, 24194460-24194478, 24194488-24194537, 24194544-24194545, 24194548, 24194704-24194710, 24194725-24194756
25LDLRAP110.898597626752979492725870190-25870277, 25890267-25890272
26SEPN110.88968824940048184166826126722-26126904, 26135114
27HPCA10.821305841924410458233359150-33359174, 33359197-33359230, 33359392-33359419, 33359430-33359435, 33359440-33359445, 33359451, 33359454-33359455, 33359458-33359459
28GJB310.99876998769988181335251011
29PPT110.99891422366992192140562823
30COL9A210.94444444444444115207040766955, 40769210, 40769222-40769243, 40773390, 40777337-40777340, 40777343, 40781264-40781310, 40781320-40781323, 40782795-40782806, 40782839, 40782844-40782857, 40782863-40782869
31KCNQ410.80842911877395400208841249766-41249971, 41249983-41249988, 41249999-41250003, 41250011-41250012, 41250024-41250060, 41284177-41284180, 41284187, 41284195-41284199, 41284216-41284217, 41284236-41284352, 41285119, 41289905, 41296953, 41296963, 41303411, 41303984, 41303986, 41304063, 41304081, 41304084, 41304095, 41304100, 41304109, 41304126, 41304142
32CLDN1910.933333333333334567543201549, 43201552, 43201558-43201562, 43201565-43201567, 43201639-43201673
33LEPRE110.86748077792854293221143212431, 43232182-43232185, 43232196, 43232206, 43232210, 43232213-43232218, 43232248-43232250, 43232258-43232266, 43232271-43232286, 43232294-43232305, 43232323-43232531, 43232566-43232569, 43232572, 43232575-43232581, 43232592, 43232595-43232597, 43232604-43232605, 43232612-43232617, 43232624, 43232627-43232631
34SLC2A110.9722785665990541147943393360, 43395283, 43395286, 43395291, 43395295-43395298, 43395338-43395345, 43395656-43395662, 43424305-43424322
35MPL10.9701257861635257190843803893, 43806162-43806169, 43806179-43806181, 43814522, 43814534, 43814935-43814950, 43814967, 43814971-43814975, 43814979, 43814993-43815004, 43815008-43815015
36UROD10.99456521739136110445478810-45478813, 45478817, 45478820
37MUTYH10.9764181007010837156945797160-45797178, 45798312, 45798315, 45799219-45799234
38MMACHC10.99411071849234584945973984-45973988
39POMGNT110.996974281391836198346660263-46660267, 46660590
40ORC110.999613302397531258652849568
41CPT210.990389479008619197753662624-53662626, 53662640, 53662642-53662644, 53662650-53662655, 53662672-53662674, 53662695-53662696, 53662700
42DHCR2410.84977433913604233155155319770-55319771, 55352562-55352792
43BSND10.99896157840083196355470712
44PCSK910.95093795093795102207955505546-55505578, 55505586-55505588, 55521703, 55521715-55521721, 55521728, 55521741, 55521744-55521753, 55521766-55521768, 55521773, 55521775-55521777, 55521792-55521802, 55521819, 55524257, 55524260-55524267, 55524271-55524272, 55524279-55524282, 55529187, 55529195, 55529204-55529206, 55529212-55529218
45LEPR10.9971412235563210349866083685-66083694
46RPE6510.998127340823973160268897197, 68914359, 68914378
47RPL510.99664429530201389493307364, 93307377, 93307388
48ABCA410.9906185869246664682294461681-94461686, 94461706-94461711, 94461714, 94467428-94467430, 94473845, 94497408-94497417, 94497420-94497425, 94497512-94497541, 94543409
49DPYD10.997400909681618307897700515-97700522
50AGL10.99130245705588404599100340292, 100340753-100340791
51COL11A110.966648341579621825457103363696-103363699, 103363706, 103363710-103363712, 103364222-103364301, 103364497-103364498, 103380291, 103380297-103380309, 103380312-103380321, 103380331-103380332, 103405919, 103405925, 103412426-103412428, 103412455-103412483, 103427444-103427450, 103431058-103431059, 103435775-103435783, 103435802-103435805, 103471841-103471842, 103471860, 103474019-103474020, 103488485-103488489
52GSTM110.092846270928463596657110230496-110230531, 110230792-110230867, 110231295-110231318, 110231327, 110231343-110231346, 110231349-110231354, 110231357-110231358, 110231670-110231751, 110231847-110231947, 110232893-110232988, 110233076-110233186, 110235861-110235917
53NRAS10.996491228070182570115256536-115256537
54HSD3B210.996425379803441119119964840-119964843
55NOTCH210.973975188781011937416120458054, 120458552-120458554, 120458565-120458580, 120468319, 120539668, 120539687, 120539691, 120539711, 120539739-120539745, 120539778-120539785, 120539913-120539955, 120547962-120547968, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120611949-120611991, 120611999-120612017
56HFE210.999219359875111281145415798
57PRPF310.99415204678363122052150315791-150315794, 150318545-150318552
58FLG10.8931560807484130212186152276112, 152276131-152276152, 152276279-152276322, 152276383-152276389, 152276427-152276469, 152276487-152276493, 152276580-152276633, 152276657-152276674, 152276696-152276729, 152276761-152276762, 152276770, 152276772, 152276777, 152276782, 152276859-152276866, 152276871, 152277011-152277058, 152277081-152277109, 152277134-152277177, 152277315-152277348, 152277367-152277405, 152277422-152277430, 152277713-152277720, 152277881-152277887, 152278047-152278049, 152278090-152278115, 152278552-152278558, 152278665-152278692, 152278811-152278817, 152278853-152278879, 152279016-152279022, 152279062-152279087, 152279375-152279409, 152279524-152279530, 152279743, 152279799-152279805, 152280029-152280035, 152280164-152280189, 152280303-152280329, 152280347, 152280372, 152280468-152280474, 152280556-152280562, 152280570-152280617, 152280643-152280652, 152280682-152280694, 152280733-152280762, 152280782, 152280788, 152280864, 152280900, 152280999-152281042, 152281287-152281307, 152281479, 152281520-152281537, 152281578-152281605, 152281621-152281649, 152281663-152281714, 152281758, 152281771, 152281872-152281878, 152281918-152281921, 152281931, 152282011-152282033, 152282119-152282136, 152283155, 152283236, 152283273-152283286, 152283427-152283433, 152283972-152283978, 152284077, 152284149-152284155, 152284364-152284398, 152284421-152284453, 152284475-152284481, 152284803-152284817, 152284850-152284857, 152284882-152284918, 152284958-152284964, 152285172-152285220
59HAX110.998809523809521840154245952
60CHRNB210.93704440026508951509154540525, 154540530-154540532, 154540536-154540539, 154540544-154540545, 154540555-154540566, 154543865-154543871, 154543932-154543933, 154544089-154544118, 154544285-154544286, 154544365-154544367, 154544377-154544382, 154544391, 154544394-154544395, 154544400-154544402, 154544405-154544411, 154544415, 154544421-154544428, 154544478
61GBA10.9941520467836371197155184364-155184370
62GBA10.9956548727498471611155205005-155205011
63PKLR10.9895652173913181725155264424, 155269979, 155269984, 155269989-155269996, 155270005-155270009, 155270015, 155270045
64LMNA10.998236331569661567156106142
65LMNA10.96842105263158631995156084710-156084711, 156084722-156084732, 156084736-156084737, 156084753-156084777, 156084896-156084902, 156084998-156085011, 156106142, 156108301
66SEMA4A10.98293963254593392286156124440, 156131137-156131145, 156131200, 156131214, 156131224-156131228, 156131290, 156145414, 156146505-156146510, 156146516-156146519, 156146534-156146537, 156146540-156146543, 156146546-156146547
67NTRK110.944374738603091332391156830727-156830820, 156830840-156830847, 156830854, 156830857-156830862, 156830865-156830866, 156830868-156830870, 156837948-156837951, 156843578, 156843595-156843607, 156843610
68KCNJ1010.9991228070175411140160012032
69ATP1A210.9977146588312173063160085654-160085659, 160105040
70PPOX10.9993026499302611434161136649
71MPZ10.9395109395109447777161275752, 161275909-161275911, 161279641-161279646, 161279664, 161279672, 161279678-161279685, 161279696-161279722
72DDR210.9968847352024982568162688866-162688869, 162688892-162688895
73SLC19A210.97523427041499371494169439222, 169454835-169454841, 169454863, 169454945, 169454949-169454955, 169454965-169454979, 169454982-169454986
74F510.99760299625468166675169497297, 169510337-169510343, 169510475, 169510607-169510613
75FMO310.9943714821763691599171061851-171061859
76FASLG10.982269503546115846172628370, 172628373-172628378, 172628388-172628392, 172628404, 172628413, 172628679
77NPHS210.844618055555561791152179528877-179528892, 179544817-179544821, 179544842-179544999
78LHX410.97953964194373241173180199665-180199678, 180199685-180199687, 180199701-180199707
79RNASEL10.98966756513926232226182555088-182555092, 182555110, 182555119-182555126, 182555132-182555133, 182555202, 182555269-182555273, 182555283
80LAMC210.99497487437186183582183155488-183155505
81HMCN110.999349420392711116908185897754-185897757, 185897761, 185897768, 185958658, 185984522, 185987446, 186024706, 186094817
82CDC7310.9993734335839611596193091336
83CFH10.9994588744588723696196659203, 196706674
84ASPM10.997028943837453110434197057498-197057504, 197062329, 197062340, 197069865-197069869, 197069872-197069876, 197070048-197070049, 197115274-197115275, 197115302, 197115481, 197115489, 197115496, 197115505-197115508
85CACNA1S10.99768765563856135622201009803-201009804, 201009807-201009808, 201022710, 201022715, 201038650, 201047075, 201047091, 201060919-201060920, 201081382, 201081395
86PKP110.99037138927098212181201286771-201286775, 201286789-201286794, 201286800, 201286805-201286813
87TNNT210.990990990990998888201333468, 201333494-201333500
88LAMB310.98351804489912583519209796340-209796357, 209799316-209799347, 209800266-209800273
89IRF610.99715099715141404209969821-209969824
90RD310.986394557823138588211652652, 211652655-211652661
91USH2A10.998334294317382615609215848208-215848211, 215916583-215916584, 216061836, 216061852, 216061855-216061858, 216138774-216138777, 216251486-216251489, 216251495, 216251498, 216496838, 216496866, 216496902, 216595487
92PSEN210.9970304380103941347227071476-227071478, 227071615
93ADCK310.9979423868312841944227152883, 227152919-227152921
94GJC210.1053030303030311811320228345460-228345967, 228345974-228346300, 228346308-228346316, 228346323-228346632, 228346643-228346669
95ACTA110.837742504409171841134229567486, 229567495, 229567547-229567548, 229567568, 229567771-229567794, 229567812, 229567847-229567879, 229567887-229567932, 229568017-229568045, 229568078-229568089, 229568118, 229568129-229568130, 229568160-229568178, 229568398, 229568452, 229568455-229568464
96AGT10.99314128943759101458230838897, 230838900-230838902, 230845753-230845754, 230845757, 230845789-230845790, 230845983
97LYST10.99938628791864711406235866143, 235896984, 235944238, 235944243, 235973058-235973060
98ACTN210.950465549348231332685236849974-236850099, 236907951, 236908004-236908007, 236917299, 236925844
99MTR10.99657714586625133798236988672, 236988675, 236988680, 237013720, 237057696-237057699, 237058768-237058772
100RYR210.993894256575429114904237205827-237205869, 237619968, 237619971, 237619975-237619977, 237619980, 237666686-237666687, 237713934, 237713946, 237729873-237729876, 237729880, 237729891, 237729975-237729978, 237729987, 237774147-237774150, 237791271-237791278, 237821253, 237821299-237821300, 237821305, 237942010, 237947244-237947248, 237955537, 237955543-237955546
101FH10.9856490541422221533241667460, 241672049-241672051, 241672062-241672064, 241672067, 241682935-241682939, 241682953, 241682956, 241682963-241682964, 241682967-241682971
102NLRP310.99357119897139203111247582106, 247582118, 247582133, 247582320-247582328, 247587967, 247588289, 247588375, 247588378, 247588550-247588553
103NET1100.957565605806817617915454673-5454714, 5454745-5454748, 5454754-5454783
104GATA3100.945318352059937313358097635-8097642, 8097650-8097654, 8097662-8097666, 8097718-8097719, 8097726-8097732, 8097740-8097743, 8097767, 8097772, 8097776, 8097786, 8097789-8097805, 8097836-8097837, 8097846-8097854, 8100548, 8100741-8100749
105PHYH100.9321533923303869101713341968-13342035, 13342042
106DCLRE1C100.9923039923039916207914950967-14950968, 14976411-14976417, 14981847-14981853
107CUBN100.989422369389261151087216882334-16882356, 16882362, 16882365-16882372, 16893370-16893373, 16957073, 16970217-16970224, 16990545, 17032455-17032484, 17032513-17032514, 17085855-17085861, 17085897, 17085918-17085926, 17085939, 17142035-17142036, 17142051-17142054, 17142064-17142068, 17142094, 17142110-17142116
108PTF1A100.2735562310030471798723481460-23481710, 23481727-23482187, 23482634-23482635, 23482638-23482640
109MYO3A100.99711399711414485126359085-26359097, 26500841
110PDSS1100.89102564102564136124826986641-26986769, 26994275-26994281
111RET100.95575485799701148334543572707-43572779, 43595968, 43596030-43596034, 43596037-43596039, 43598033-43598035, 43598051, 43598070-43598076, 43600449-43600456, 43600551, 43600634, 43601942-43601963, 43606870, 43606877, 43606881-43606886, 43609936-43609937, 43609991, 43609994, 43614995-43614997, 43615029, 43615046, 43615097-43615100, 43619166-43619167
112ERCC6100.9908522980812141448250708684-50708685, 50708691-50708693, 50740780-50740785, 50740792-50740821
113CHAT100.88696039163329254224750822269-50822436, 50822455-50822460, 50822468-50822469, 50822472, 50822476-50822487, 50822491-50822503, 50822506, 50827886, 50827894, 50827934, 50830143-50830160, 50833657-50833684, 50857573-50857574
114PCDH15100.9938869077941936588955582238-55582239, 55582244-55582246, 55587201, 55587212-55587223, 55587234-55587244, 55591200, 55626421-55626424, 55782705, 56128908
115EGR2100.960167714884757143164573006, 64573335-64573336, 64573340-64573347, 64573352, 64573356, 64573365, 64573369, 64573467-64573506, 64573787-64573788
116NODAL100.994252873563226104472201242-72201246, 72201297
117PRF1100.9898081534772217166872358251-72358257, 72358284, 72358466-72358468, 72358472-72358475, 72358577, 72358656
118PCBD1100.99047619047619331572648288-72648290
119CDH23100.993138424821691005673464779-73464784, 73464798, 73464808-73464810, 73464871-73464872, 73464876, 73464887, 73490281, 73537500-73537513, 73544648-73544649, 73544663, 73544669-73544677, 73550117, 73550126-73550129, 73565736-73565742, 73565937, 73565940, 73565944, 73565953, 73572548, 73574752-73574759, 73574833, 73574836-73574837
120VCL100.96916299559471105340575757975-75758004, 75758017-75758022, 75758040-75758045, 75758060-75758070, 75758084, 75758088-75758105, 75758114-75758126, 75854124, 75854165-75854180, 75867069, 75873951, 75873964
121LDB3100.9633699633699680218488441366-88441369, 88441377-88441380, 88441383-88441385, 88441388-88441395, 88466338, 88476101-88476103, 88476119, 88476123-88476125, 88476147, 88476150-88476184, 88476243-88476244, 88476297, 88476300-88476303, 88476435-88476438, 88476467-88476471, 88476483
122BMPR1A100.995622263914957159988683220-88683226
123GLUD1100.73822301729278439167788854082-88854323, 88854330-88854526
124LIPA100.9916666666666710120090987998, 90988108, 91007322-91007324, 91007339, 91007399-91007402
125ANKRD1100.99479166666667596092678656-92678660
126PLCE1100.998697351280949690996006355, 96022344-96022347, 96076367-96076370
127ZFYVE27100.9902912621359212123699510176, 99511174-99511176, 99512808, 99512813-99512817, 99512839, 99512879
128HPS1100.97198480531814592106100177338-100177339, 100177372-100177388, 100177410-100177415, 100177424-100177427, 100183568, 100186985-100186986, 100186994-100186996, 100186999, 100191010-100191012, 100193810-100193829
129COX15100.9967558799675641233101491720-101491723
130ABCC2100.999353169469634638101558977-101558978, 101610380
131PAX2100.98614318706697181299102510455, 102586769, 102587321-102587325, 102587332-102587333, 102587338-102587340, 102587355-102587358, 102587413-102587414
132C10orf2100.9980535279805442055102748486-102748489
133FBXW4100.807909604519772381239103371105-103371106, 103371119-103371140, 103371143, 103371407, 103371411, 103372185, 103372213, 103454138-103454341, 103454358-103454360, 103454388, 103454396
134HPS6100.69630584192447072328103825232-103825600, 103825621-103825645, 103825654-103825820, 103825845-103825893, 103826005-103826026, 103826039-103826069, 103826240-103826243, 103826643-103826645, 103826784, 103826803, 103826958-103826963, 103826966, 103827000-103827027
135SUFU100.94158075601375851455104263910-104263949, 104263966-104263967, 104263973-104263978, 104263988-104263993, 104264004-104264008, 104264032-104264033, 104264046, 104264052, 104264070-104264091
136CYP17A1100.98559266535691221527104592301-104592310, 104592400-104592410, 104595078
137COL17A1100.98664886515354604494105794398, 105794406-105794411, 105794423-105794427, 105798220-105798221, 105798243, 105798246-105798247, 105816777-105816782, 105816787-105816811, 105816838-105816841, 105816907, 105816916, 105817905, 105817913-105817917
138SHOC2100.9994282447112611749112724539
139HABP2100.99346405228758111683115341869-115341879
140EMX2100.61264822134387294759119302779-119303069, 119303077, 119303119-119303120
141BAG3100.894097222222221831728121411188-121411367, 121432009, 121432012, 121436362
142FGFR2100.9967519285424382463123244970, 123274677-123274683
143HTRA1100.70339570339574281443124221169-124221516, 124221522-124221542, 124221552-124221581, 124221588-124221589, 124221598, 124221603-124221610, 124221620-124221634, 124266208-124266209, 124266215
144ACADSB100.98768283294842161299124768575, 124768579, 124797263-124797274, 124810701-124810702
145OAT100.9992424242424211320126097205
146UROS100.996240601503763798127503630-127503632
147HRAS110.996491228070182570534213-534214
148TALDO1110.896449704142011051014747482-747578, 763418, 763442-763447, 763450
149SLC25A22110.79218106995885202972791940-791946, 792006-792032, 792173-792202, 792598-792613, 792619-792629, 792652-792681, 792688, 792691-792698, 792870-792889, 792947, 792970-792973, 792979, 792983-792986, 794776-794787, 794793-794806, 794812-794817, 794892-794901
150PNPLA2110.627062706270635651515819719-819905, 821693-821696, 823577-823587, 823739, 823783-823812, 823838-823841, 823847, 823998-824064, 824093-824130, 824314-824336, 824359-824362, 824389-824432, 824523-824537, 824546-824551, 824562-824564, 824572, 824575-824579, 824614, 824623-824645, 824656, 824667-824672, 824675, 824683-824688, 824703-824706, 824712-824716, 824724-824744, 824761-824763, 824769-824771, 824789, 824792-824793, 824803-824808, 824825-824862
151CTSD110.8248587570621521712391774822, 1775033-1775048, 1775057-1775106, 1775239, 1775244, 1775248, 1775261, 1775292-1775368, 1778613, 1785022-1785089
152TNNI2110.786885245901641175491861633-1861648, 1861658, 1861663-1861666, 1861669-1861671, 1861760, 1861765, 1861773, 1861778, 1861794, 1861799-1861800, 1861804, 1861819, 1861843, 1862049-1862091, 1862098-1862105, 1862309, 1862317-1862337, 1862359-1862366, 1862689, 1862696
153TNNT3110.95366795366795367771946341-1946342, 1955049-1955055, 1955661-1955662, 1959668-1959692
154H19110.8674136321195114210712017327, 2017411-2017419, 2017758-2017770, 2017773, 2017780-2017782, 2017791-2017793, 2017802, 2017826, 2017829, 2017835-2017837, 2017840-2017844, 2017857, 2017941-2017957, 2017968-2018020, 2018061, 2018084-2018089, 2018102-2018105, 2018152, 2018155-2018158, 2018161-2018163, 2018227, 2018239-2018247, 2018447
155IGF2110.741209563994371847112154253, 2154340-2154341, 2154347-2154352, 2154355, 2154374-2154380, 2154383-2154384, 2154391-2154392, 2154398, 2154401-2154402, 2161365-2161367, 2161370-2161526
156TH110.8146031746031729215752186592-2186594, 2187710-2187779, 2187863-2187924, 2187931-2187983, 2187997-2187998, 2188135, 2188173-2188181, 2188198-2188200, 2188203, 2190992-2191057, 2191951, 2191959-2191963, 2191970-2191974, 2191977-2191979, 2191985-2191990, 2191997-2191998
157KCNQ1110.8222550467749936120312466329-2466653, 2466663, 2466666, 2466674-2466680, 2466683, 2606518, 2606524-2606526, 2606536-2606537, 2608830, 2608867, 2608883, 2610025-2610038, 2799237, 2869209, 2869226
158CDKN1C110.0977917981072558589512905234-2905249, 2905266-2905306, 2905336-2905364, 2905900-2906532, 2906540-2906543, 2906549-2906552, 2906555-2906557, 2906560-2906623, 2906630, 2906635-2906641, 2906647-2906654, 2906665-2906673, 2906681-2906719
159HBD110.995495495495524445255623-5255624
160SMPD1110.948839662447269718966411832, 6411935-6411941, 6411949, 6411955-6411966, 6411969-6411975, 6412740-6412767, 6412772, 6412775-6412779, 6412867-6412878, 6412994-6413001, 6413009, 6413099-6413100, 6413211-6413212, 6414591, 6415810-6415814, 6415825-6415828
161SBF2110.987927927927936755509838400, 9838413, 9838422-9838427, 9838496-9838498, 9838563, 10315562-10315616
162KCNJ11110.9897698209718712117317408762, 17409065-17409066, 17409076, 17409089-17409096
163ABCC8110.991361146228441474617419270, 17419279, 17434262, 17449854, 17449857-17449859, 17449865, 17483309, 17483333, 17498263, 17498267-17498282, 17498285, 17498290-17498296, 17498298-17498302, 17498323
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180MYBPC3110.997908496732038382547362779-47362786
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194EFEMP2110.993993993993998133265639784-65639790, 65639795
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198PC110.96579021769861121353766617279-66617280, 66617284-66617285, 66618330, 66618381-66618394, 66619988, 66619991-66619992, 66620024-66620068, 66620256, 66620261-66620266, 66620753, 66633658-66633660, 66633664-66633682, 66633693-66633698, 66633736-66633740, 66633743-66633755
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205CPT1A110.997416020671836232268527693-68527695, 68527749, 68549340, 68571484
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207DHCR7110.92366946778711109142871146421, 71146456-71146480, 71146517-71146536, 71146557-71146562, 71146571, 71146576-71146577, 71146594-71146621, 71146644-71146647, 71146658-71146676, 71146724, 71146734, 71146842
208LRTOMT110.974885844748862287671819762-71819778, 71819787-71819791
209MYO7A110.9897713598074668664876858897-76858902, 76858907-76858910, 76890108, 76890792, 76890816-76890823, 76890870, 76909560-76909575, 76914105-76914108, 76914114-76914126, 76914230, 76922283, 76922292-76922297, 76922301, 76922305-76922309
210ALG8110.999367488931061158177812222
211FZD4110.93556381660471104161486665845, 86665861, 86665864, 86665907, 86665925-86665948, 86665952-86665959, 86666021, 86666040-86666041, 86666044, 86666052-86666054, 86666067-86666127
212TYR110.987421383647820159089018067-89018077, 89028390-89028392, 89028407-89028411, 89028416
213MTMR2110.9792960662525940193295657051-95657056, 95657072-95657074, 95657076, 95657082-95657087, 95657089-95657111, 95657114
214TRPC6110.99391988555079172796101454153-101454157, 101454163-101454167, 101454175, 101454178-101454183
215DYNC2H1110.996987253765933912945102991258, 102991473, 102991492, 102991498, 103014079, 103040913-103040921, 103043812, 103043815, 103043826, 103043832-103043833, 103043846-103043848, 103052515, 103052539, 103052542, 103059371-103059377, 103092810-103092816
216ACAT1110.9929906542056191284107992346, 107992356-107992358, 107992362-107992366
217ATM110.9989096063679109171108098353-108098358, 108196252, 108236194-108236196
218ALG9110.97930283224401381836111742104-111742120, 111742129-111742130, 111742136-111742137, 111742141, 111742145, 111742150, 111742159-111742161, 111742164-111742169, 111742176, 111742180-111742183
219DLAT110.99485596707819101944111896335, 111896342-111896343, 111896356-111896359, 111896986, 111909976, 111910012
220PTS110.933789954337929438112097210-112097238
221DRD2110.98798798798799161332113281449-113281455, 113281472-113281480
222APOA1110.9601990049751232804116706625-116706629, 116706633, 116706644-116706648, 116706725, 116706783-116706784, 116706786, 116706789-116706802, 116706866, 116706888, 116706892
223FXYD2110.997716894977171438117693418
224SCN4B110.9723435225618619687118023357-118023375
225CD3G110.987249544626597549118221309-118221315
226HMBS110.9981583793738521086118962230, 118962233
227DPAGT1110.9983700081499621227118971409, 118972316
228TECTA110.99814385150812126465121000471-121000477, 121016738-121016741, 121028719
229ROBO3110.933669790915652764161124735528, 124735604, 124738798, 124738839-124738885, 124738896-124738951, 124739419, 124742371, 124742389, 124742415, 124745467-124745468, 124745543, 124745932-124745951, 124745954-124745960, 124745975, 124745978-124745979, 124745983-124745985, 124745994, 124745997, 124746017, 124746171-124746174, 124746186-124746191, 124746194-124746215, 124746252-124746253, 124746258, 124746278-124746280, 124746288, 124746291, 124746302-124746334, 124746344, 124747974-124747977, 124749436-124749471, 124749770-124749773, 124749824-124749831, 124750440
230ACAD8110.96153846153846481248134123514-134123554, 134123600-134123603, 134131675-134131677
231WNK1120.973982375157361867149862732-862753, 862770-862774, 862783, 862788, 862791-862793, 862829-862870, 862926-862934, 862980, 862988-862991, 863082-863105, 863128-863134, 863137-863141, 863151-863164, 863174, 863182-863186, 863211-863228, 863262-863266, 863291, 863294-863296, 994378, 994798-994799, 1005585-1005586, 1017055, 1017070-1017071, 1017795, 1017801, 1017842-1017846
232CACNA2D4120.98799062683074134141902902-1902905, 1906644-1906649, 1906655-1906659, 1906665, 1906669-1906675, 1906679, 1909588, 1920864-1920865, 1949950, 1994227, 2022274-2022281, 2027494, 2027536, 2027539-2027540
233CACNA1C120.9678402682517921165612224480, 2224483, 2773998, 2774004, 2775877-2775887, 2788714, 2788725, 2788728, 2791825-2791827, 2791837, 2795332-2795370, 2797718, 2797747, 2797786-2797843, 2800195-2800225, 2800251-2800257, 2800307-2800350, 2800358-2800365
234KCNA1120.955645161290326614885020612-5020658, 5020953-5020971
235VWF120.9616204690831632484426058297-6058300, 6122717, 6122727-6122729, 6125338-6125344, 6127532-6127538, 6127637-6127661, 6127782-6127788, 6127888-6127894, 6127916-6127947, 6128064-6128087, 6128339-6128345, 6128554-6128560, 6131925-6131932, 6131955-6131982, 6132009-6132033, 6140621-6140663, 6140740-6140744, 6155900-6155903, 6166029, 6166046-6166049, 6166066, 6166068, 6166077, 6166081-6166083, 6166092-6166100, 6166105, 6166110-6166111, 6166116-6166117, 6166137-6166142, 6166148-6166169, 6166208-6166213, 6166217, 6166220, 6166224-6166238, 6167021, 6167037, 6167115, 6184593
236TNFRSF1A120.8896198830409415113686438496-6438505, 6438509-6438523, 6438595-6438596, 6438602-6438661, 6438667, 6438671-6438674, 6438693-6438702, 6438706-6438717, 6438721-6438722, 6438725-6438726, 6438735-6438737, 6438767-6438788, 6438981, 6450945-6450950, 6450953
237SCNN1A120.94695930498411621876457054, 6457402-6457409, 6464576, 6472613-6472653, 6472664-6472666, 6472676, 6472680-6472685, 6472717-6472725, 6472732-6472776, 6472865
238TPI1120.846666666666671157506976731-6976845
239ATN1120.9389868457878521835737043378, 7045888-7045942, 7045951-7045989, 7046336-7046379, 7046505, 7046574-7046599, 7046622-7046623, 7046698-7046702, 7046711-7046721, 7047126, 7047141-7047143, 7050626, 7050629-7050631, 7050634, 7050647, 7050651, 7050660-7050682
240AICDA120.9865996649916285978757434-8757441
241CDKN1B120.99664991624791259712870830, 12871111
242MGP120.99679487179487131215035907
243GYS2120.995738636363649211221716230-21716238
244ABCC9120.9922580645161336465021971121-21971133, 21981892-21981900, 21997435-21997441, 22068722-22068728
245DNM1L120.9882406151062926221132832377-32832399, 32883955, 32890809, 32890825
246PKP2120.95346062052506117251433049443-33049445, 33049451-33049491, 33049503-33049542, 33049552-33049553, 33049558, 33049562, 33049637-33049665
247KIF21A120.9867629362214266498639726743-39726757, 39730971-39730977, 39836729-39836772
248LRRK2120.999604430379753758440687430, 40728901, 40761494
249VDR120.9742990654205633128448238607-48238610, 48238761-48238766, 48249479-48249482, 48249491, 48249494-48249499, 48249564-48249565, 48250971-48250974, 48251359, 48251362, 48251386-48251389
250COL2A1120.9816308243727682446448369784-48369785, 48371169, 48371172, 48377870-48377879, 48377885-48377888, 48379572-48379575, 48391416, 48393731, 48393738, 48398048-48398104
251MLL2120.94095341278449811661449420111-49420118, 49420780-49420803, 49420823-49420826, 49420857, 49420894, 49424176-49424183, 49424186, 49424534, 49425095, 49425101, 49425149-49425155, 49425429-49425434, 49425444-49425446, 49425689-49425690, 49425788-49425793, 49425797-49425800, 49425804, 49425809, 49425813, 49426138-49426143, 49426367, 49426384-49426388, 49426476, 49426633-49426638, 49426644-49426650, 49426656-49426683, 49426690-49426696, 49426734-49426735, 49426738-49426739, 49426743-49426753, 49426755, 49426770-49426796, 49426807, 49426841-49427067, 49427073-49427111, 49427119-49427171, 49427191-49427195, 49427212, 49427216-49427219, 49427223-49427224, 49427230-49427234, 49427247-49427290, 49427296-49427330, 49427395, 49427399-49427404, 49427411-49427418, 49427472-49427478, 49427512-49427553, 49427579-49427607, 49427633-49427642, 49427649-49427662, 49427665, 49431304-49431308, 49431324-49431332, 49431338, 49431342-49431344, 49431495-49431499, 49431514-49431516, 49431520-49431526, 49431537-49431538, 49431553, 49431586-49431587, 49431602-49431604, 49431701-49431704, 49431765, 49431768, 49431824-49431831, 49431839-49431883, 49433289-49433292, 49433313-49433314, 49433366-49433370, 49433617-49433654, 49434035-49434059, 49434076-49434083, 49434096-49434101, 49434106, 49434110, 49434113, 49434503-49434525, 49434890-49434897, 49435015-49435016, 49435118-49435128, 49435145-49435150, 49435197-49435199, 49435207-49435209, 49435214, 49435223, 49438638-49438641, 49446045, 49446772-49446779
252DHH120.86649874055416159119149483642, 49483645, 49483648-49483664, 49483674-49483677, 49483724-49483768, 49483774-49483804, 49483821, 49483836-49483838, 49483845-49483846, 49483854-49483857, 49483864-49483865, 49483868-49483872, 49483875-49483879, 49483890, 49483905-49483908, 49483921, 49483963, 49483975, 49483987-49483988, 49483992, 49483996, 49484001-49484002, 49484114, 49484117-49484118, 49484124, 49484142, 49484165, 49484208-49484212, 49488186-49488187, 49488192, 49488195-49488197, 49488257-49488263
253TUBA1A120.89692982456144745649522195-49522241
254AQP2120.985294117647061281650344895-50344898, 50344903, 50344942-50344948
255ACVRL1120.995370370370377151252308239-52308242, 52312867, 52312870-52312871
256KRT81120.9479578392621979151852680114, 52680141, 52680180, 52680195-52680200, 52680206, 52682231, 52684021-52684045, 52685061-52685078, 52685088, 52685091, 52685096, 52685164, 52685176-52685180, 52685187, 52685190-52685197, 52685204, 52685218-52685223
257KRT86120.9623545516769355146152695749, 52695813, 52695851-52695891, 52696024, 52696051, 52696055, 52696927-52696933, 52702189, 52702326
258KRT83120.9514170040485872148252709840-52709850, 52709861-52709864, 52709880, 52713122, 52714897-52714914, 52714925-52714927, 52714931, 52714937-52714941, 52715007-52715026, 52715035-52715042
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262KRT5120.90693739424704165177352908726-52908760, 52908770-52908892, 52908918-52908921, 52910509, 52910570, 52912900
263KRT2120.997395833333335192053040650-53040653, 53045893
264KRT1120.9757105943152547193553069096-53069103, 53069223-53069243, 53070145, 53070151-53070167
265KRT4120.997759103641464178553201495, 53201498, 53201514, 53201525
266ITGA7120.9912434325744330342656078913, 56078916-56078917, 56078932-56078934, 56086673, 56086693-56086694, 56086703-56086714, 56088280, 56088575, 56092549-56092551, 56094096, 56094099, 56096916, 56096919
267SUOX120.9908424908424915163856398122-56398136
268MYO1A120.999361430395912313257431771, 57431778
269KIF5A120.978380122620267309957944055-57944060, 57944069-57944072, 57944076, 57944093-57944131, 57944160-57944176
270CYP27B1120.996070726915526152758158238, 58158915, 58158970, 58159859-58159860, 58159883
271TSFM120.983640081799591697858176603-58176607, 58176622-58176625, 58176628-58176634
272GNS120.9813140446051831165965152880, 65152897-65152899, 65152907-65152911, 65152979-65152989, 65153013-65153023
273LEMD3120.9250730994152205273665563405-65563411, 65563520-65563556, 65563604-65563618, 65563620-65563632, 65563635-65563648, 65563658-65563659, 65563712, 65563726-65563729, 65563740-65563773, 65563789-65563792, 65563814, 65563833-65563851, 65563866, 65563879-65563880, 65563888-65563915, 65563941-65563943, 65563952, 65563962-65563971, 65563993-65563998, 65564004-65564006
274CEP290120.999596774193553744088519038, 88532968, 88533304
275HAL120.9863221884498527197496374344, 96380954-96380957, 96389625-96389629, 96389633-96389641, 96389647-96389648, 96389651-96389653, 96389659, 96389664-96389665
276TMPO120.956834532374190208598909761, 98909783-98909786, 98909795-98909797, 98909807-98909834, 98909849-98909875, 98909878-98909891, 98909897-98909903, 98909907-98909909, 98909912-98909914
277SLC25A3120.999081726354451108998987874
278SLC17A8120.98813559322034211770100774493, 100774543-100774544, 100774596, 100774601-100774605, 100797827-100797833, 100797880-100797882, 100797895-100797896
279GNPTAB120.99124900556881333771102179812-102179813, 102224337-102224360, 102224381-102224387
280IGF1120.998299319727891588102813444
281UNG120.9469214437367350942109535523-109535570, 109536348, 109536358
282MMAB120.989375830013288753109998868, 110011225, 110011232, 110011238-110011240, 110011244-110011245
283MVK120.9974811083123431191110032875, 110034232, 110034256
284TRPV4120.98967889908257272616110232140-110232146, 110236424, 110236591, 110236713-110236717, 110238530-110238536, 110238551, 110252435-110252437, 110252440-110252441
285ATP2A2120.961968680089491193129110719595-110719712, 110782711
286MYL2120.998003992015971501111348881
287ATXN2120.815068493150687293942111895057, 112036588-112037315
288PTPN11120.99158249158249151782112856916-112856929, 112893754
289SDS120.998986828774061987113831780
290TBX5120.9961464354527961557114793487, 114793800, 114793803, 114841632-114841634
291TBX3120.907706093189962062232115109844, 115109862-115109866, 115109873-115109891, 115110040, 115111970-115111972, 115111975-115111979, 115111983-115111997, 115112020-115112025, 115112036-115112037, 115112045-115112056, 115112071-115112073, 115112081, 115112084, 115112095, 115112100-115112107, 115112110-115112112, 115112131-115112166, 115112190, 115112233, 115112252-115112253, 115112257, 115112263-115112265, 115112274-115112284, 115112299-115112302, 115112313, 115112322-115112323, 115112329-115112330, 115112333, 115112346, 115112350-115112360, 115112362-115112391, 115112441, 115112543, 115112554-115112556, 115120847-115120851, 115120895, 115120927, 115120937
292ACADS120.97578692493947301239121163689-121163693, 121163705-121163713, 121163717-121163719, 121175684, 121176437-121176448
293HNF1A120.946729957805911011896121416589, 121416616-121416622, 121416693-121416697, 121434191, 121434194, 121434350-121434364, 121434367, 121434371-121434376, 121435323-121435331, 121435355-121435392, 121437300-121437305, 121437308, 121437356, 121437371-121437376, 121437379, 121437382, 121437395
294EIF2B1120.9749455337690623918124106313, 124106319, 124106327-124106347
295ATP6V0A2120.98288603656165442571124197154-124197156, 124197165-124197197, 124197226-124197229, 124241401, 124241404, 124242474-124242475
296PUS1120.92367601246106981284132414268-132414309, 132414317, 132414320-132414325, 132414333, 132414336-132414341, 132414452, 132414458-132414460, 132414486-132414494, 132414503-132414524, 132414527, 132414533, 132414539, 132414601, 132414620, 132426244, 132426249
297GJB6130.99872773536896178620797360
298SACS130.987918486171761661374023908070-23908082, 23928748, 23929330, 23949258-23949408
299CENPJ130.999253174010463401725480459-25480460, 25486084
300PDX1130.5845070422535235485228494276-28494297, 28494320, 28494346-28494376, 28494395-28494421, 28494427-28494428, 28494432-28494441, 28494460, 28494486-28494490, 28494494, 28494503-28494601, 28494614-28494616, 28494622, 28494626, 28498393-28498447, 28498501-28498529, 28498565, 28498587-28498588, 28498594-28498597, 28498600, 28498608-28498622, 28498676, 28498683-28498705, 28498708, 28498716-28498718, 28498742-28498745, 28498766, 28498770-28498775, 28498791, 28498800, 28498803, 28498810
301B3GALTL130.9532398129592570149731774222-31774291
302BRCA2130.99873257287706131025732906636-32906648
303SPG20130.999500249875061200136909455
304FREM2130.98769716088328117951039261550-39261570, 39261579-39261584, 39261626, 39261639, 39261683-39261715, 39261792, 39261796-39261799, 39261842-39261847, 39261857-39261859, 39261907-39261941, 39262057, 39343885-39343886, 39343913, 39343920, 39343923
305TNFSF11130.938155136268345995443148442-43148445, 43148452-43148454, 43148457, 43148475-43148478, 43148484-43148493, 43148510-43148517, 43148526-43148543, 43180892-43180902
306SUCLA2130.996408045977015139248542779, 48575327-48575329, 48575343
307RB1130.9684248295658488278748878098-48878185
308RNASEH2B130.931842385516516493951484213-51484276
309ATP7B130.9954524783992720439852518372, 52520471, 52520476, 52520481-52520485, 52520496-52520507
310CLN5130.9517973856209159122477566128-77566133, 77566143-77566151, 77566159-77566163, 77566189, 77566194, 77566272-77566299, 77566303, 77566305, 77566395, 77566401-77566406
311SLITRK1130.9894787183165922209184453773-84453778, 84453787-84453789, 84453795-84453806, 84455615
312GPC6130.999400479616311166893879834
313ZIC2130.502188868042537961599100634319-100634833, 100634860, 100634863-100634864, 100634922-100634923, 100634943-100634948, 100634964-100634967, 100635007-100635016, 100635020-100635022, 100635032-100635045, 100635049-100635064, 100635175-100635192, 100635202-100635205, 100635210, 100637346-100637348, 100637577-100637589, 100637631, 100637637, 100637647-100637648, 100637651-100637652, 100637695-100637697, 100637702-100637865, 100637885-100637888, 100637907-100637913
314PCCA130.98445358939186342187100741415-100741419, 100741437-100741445, 100741462-100741465, 100909907-100909922
315ERCC5130.99528190610993204239103514586-103514589, 103514597-103514608, 103518698-103518701
316COL4A1130.98183632734531915010110814722-110814725, 110822895, 110822898, 110864225, 110959291-110959374
317F7130.832209737827722241335113765004-113765136, 113765147-113765156, 113765160-113765164, 113770019-113770025, 113772948-113772988, 113773029, 113773035, 113773038-113773043, 113773055-113773060, 113773150, 113773153, 113773174-113773177, 113773189, 113773192, 113773301-113773303, 113773306-113773308
318F10130.94751192910702771467113777172-113777205, 113777213-113777226, 113798223-113798226, 113798374-113798398
319GRK1130.895390070921991771692114321808-114321857, 114321918-114321946, 114322034-114322036, 114322045-114322049, 114322057-114322060, 114322133-114322181, 114322208-114322214, 114325864-114325872, 114325883-114325888, 114325894-114325898, 114426052, 114426074-114426080, 114426083-114426084
320TEP1140.9934043632673852788420844387-20844391, 20848531, 20850074, 20850105, 20850472, 20850475, 20851758-20851784, 20851788-20851791, 20852378-20852384, 20854676-20854678, 20854698
321RPGRIP1140.99507899507919386121769192-21769195, 21769206-21769219, 21819302
322SLC7A7140.99023437515153623282110, 23282117-23282119, 23282122-23282128, 23282132-23282134, 23282155
323PABPN1140.6145494028230235592123790679-23791029, 23793489-23793490, 23793495-23793496
324MYH6140.9876288659793872582023852465-23852474, 23855192-23855196, 23855199-23855200, 23855203-23855207, 23855224-23855227, 23855235, 23858209-23858215, 23858228-23858234, 23858241, 23858254-23858261, 23871906-23871925, 23872008, 23872646
325MYH7140.97761707988981130580823883216-23883239, 23884643, 23884686, 23885243, 23885257-23885259, 23885264, 23885393, 23886748, 23886751, 23886765, 23886879-23886890, 23887421-23887429, 23887433, 23887522-23887569, 23887578, 23887581, 23887584-23887587, 23889199, 23894058-23894063, 23894217, 23894221, 23894226, 23894501, 23894604-23894610, 23898994
326NRL140.6540616246498624771424550525-24550769, 24551813, 24551816
327PCK2140.9901196047841919192324563631-24563643, 24566271, 24566275, 24566297-24566300
328TGM1140.997147514262437245424727506-24727512
329FOXG1140.63605442176871535147029236486-29236989, 29237201, 29237204-29237205, 29237215-29237225, 29237263, 29237334-29237337, 29237347-29237355, 29237627-29237629
330COCH140.9758015728977640165331344262-31344300, 31355452
331CFL2140.9940119760479350135183744-35183746
332NKX2-1140.35986733001658772120636986483, 36986532-36986562, 36986573-36986663, 36986669-36986937, 36986943-36986949, 36986953, 36986991, 36987006-36987025, 36987032, 36987049-36987057, 36987061-36987063, 36987065-36987078, 36987086-36987103, 36987113-36987154, 36987165, 36987168, 36987198, 36987201, 36988190-36988202, 36988223-36988243, 36988253-36988281, 36988296-36988402, 36988410-36988416, 36988448-36988470, 36989269-36989277, 36989284-36989334
333PAX9140.993177387914237102637132401, 37132412, 37135740-37135744
334FANCM140.999511957052223614745605352, 45605357, 45623949
335MGAT2140.9791666666666728134450088053, 50088112-50088130, 50088136, 50088141-50088146, 50088230
336C14orf104140.67541766109785816251450100359, 50100362-50100363, 50100596-50100609, 50100619-50100646, 50100668-50100703, 50100714-50100752, 50100758-50100909, 50100917-50101110, 50101129-50101174, 50101184-50101228, 50101252-50101254, 50101258-50101259, 50101263-50101268, 50101280-50101294, 50101304, 50101334-50101436, 50101450-50101490, 50101520-50101524, 50101533-50101558, 50101569-50101570, 50101609, 50101618-50101623, 50101747, 50101792-50101812, 50101833-50101858
337L2HGDH140.996408045977015139250778831-50778835
338PYGL140.9929245283018918254451410885, 51410948, 51410956, 51410959-51410970, 51410994, 51411109, 51411112
339GCH1140.7636122177954817875355312516, 55312522-55312523, 55326408, 55369109, 55369118, 55369210-55369381
340OTX2140.966442953020133089457272078-57272107
341SIX6140.931174089068835174160976137, 60976224-60976225, 60976363, 60976418, 60976672-60976673, 60977810, 60977819, 60977859-60977900
342SIX1140.927485380116966285561113084-61113086, 61115366, 61115382-61115394, 61115412, 61115416, 61115423, 61115429, 61115432-61115438, 61115537, 61115546, 61115550-61115552, 61115660, 61115722-61115748, 61115800
343SYNE2140.994547384674771132072464447776, 64469553, 64469556-64469557, 64580270, 64587750, 64591811, 64593117, 64675590-64675626, 64676214-64676217, 64676691-64676739, 64676817-64676818, 64676822, 64676825, 64676836, 64676841-64676842, 64692062, 64692105, 64692115-64692118, 64692123-64692124
344ZFYVE26140.9968503937007924762068215225-68215226, 68229046-68229052, 68238783, 68242692-68242694, 68250172-68250178, 68272202, 68274116-68274117, 68274553
345PSEN1140.99857549857552140473678600, 73678616
346VSX2140.83701657458564177108674706295-74706297, 74706317, 74706340-74706348, 74706353, 74706356-74706361, 74706372, 74706415-74706440, 74706448-74706483, 74706491-74706497, 74706505, 74706510, 74706513, 74706547-74706575, 74706582-74706634, 74727399, 74727484
347EIF2B2140.9857954545454515105675470027-75470039, 75471508, 75471545
348FLVCR2140.9917773561037313158176091055-76091067
349TGFB3140.994350282485887123976447213-76447214, 76447218-76447219, 76447230-76447232
350ESRRB140.90700720366732142152776957947, 76957950, 76964632-76964657, 76964665-76964778
351POMT2140.9587217043941493225377745162-77745183, 77745187-77745197, 77786792, 77786869-77786898, 77786906, 77786909-77786912, 77786925, 77786938-77786940, 77786967-77786968, 77786973, 77786984, 77786988-77786989, 77786999-77787001, 77787005, 77787014-77787023
352VIPAR140.9757085020242936148277900224, 77900228-77900232, 77900244-77900245, 77902211-77902212, 77902223-77902230, 77902235-77902238, 77917530-77917543
353TSHR140.998692810457523229581422052, 81422066, 81534631
354GALC140.94363459669582116205888434759-88434769, 88434790-88434793, 88459321-88459324, 88459332, 88459335-88459389, 88459396, 88459399, 88459410-88459411, 88459417, 88459420, 88459426-88459436, 88459438, 88459441-88459457, 88459479-88459484
355SPATA7140.999444444444441180088895795
356TTC8140.9928940568475511154889343645-89343655
357FBLN5140.994060876020798134792357603-92357610
358ATXN3140.997237569060773108692537355-92537357
359VRK1140.9806884970612923119197304101-97304123
360AMN140.504405286343616751362103390133, 103394778, 103394800, 103394803, 103394819-103394823, 103395121, 103395151-103395174, 103395184-103395190, 103395195-103395197, 103395203-103395205, 103395240-103395284, 103395290-103395312, 103395473-103395478, 103395487-103395546, 103395556-103395562, 103395573-103395595, 103395765-103395769, 103395787-103395789, 103395807-103395839, 103396014, 103396073-103396074, 103396274, 103396277, 103396306-103396346, 103396387-103396423, 103396502-103396664, 103396743-103396825, 103396913-103396932, 103396944-103397017
361INF2140.82646513750105167717-105167727, 105167734-105167739, 105167742, 105167749-105167756, 105167761-105167762, 105167778-105167786, 105167789-105167796, 105167807, 105167862, 105167966, 105167979, 105168074-105168093, 105169639-105169646, 105169758-105169762, 105170253-105170286, 105172401, 105172416-105172423, 105172451, 105173602, 105173608-105173633, 105173643-105173650, 105173653-105173654, 105173671-105173677, 105173742-105173792, 105173855-105174196, 105174233-105174235, 105174249-105174251, 105174257-105174265, 105174269-105174277, 105174289, 105174295-105174297, 105174300, 105174324, 105174339, 105174809, 105174825-105174830, 105174906, 105175618-105175625, 105177479-105177486, 105177489-105177500, 105177502-105177516, 105179857, 105181132-105181135, 105181138
362NIPA1150.7585858585858623999023048989-23049003, 23049011-23049042, 23052632-23052645, 23086234-23086411
363SNRPN150.99723374827109272325222124, 25223407
364UBE3A150.999619482496191262825601969
365OCA2150.99483512117613251728263549, 28263667, 28263672, 28326956, 28326959, 28326972-28326979
366TRPM1150.9860764754779767481231294347-31294349, 31320559-31320577, 31332424, 31342630-31342673
367ACTC1150.9744268077601429113435086892-35086907, 35086921-35086933
368IVD150.996877439500394128140703815-40703818
369CHST14150.79929266136163227113140763413-40763589, 40763643-40763646, 40763649, 40763661-40763670, 40763673, 40763677-40763688, 40763693-40763696, 40763779, 40763783, 40763795-40763803, 40763806-40763808, 40763822, 40763942, 40764322, 40764440
370CAPN3150.999183006535952244842652066, 42703955
371CDAN1150.85803474484256523368443017735-43017736, 43017760-43017763, 43018332-43018358, 43019901-43019906, 43019912-43019917, 43021429-43021438, 43021452, 43021461-43021474, 43021780, 43021784, 43021796, 43026437, 43026468-43026469, 43026474, 43026482-43026485, 43026490-43026491, 43028500-43028521, 43028580-43028586, 43028609, 43028628, 43028632-43028637, 43028666-43028978, 43029211-43029300
372TTBK2150.9967871485943812373543038125, 43103895, 43103908-43103914, 43103944, 43103953-43103954
373STRC150.95495495495495240532843896219-43896241, 43896277, 43896641-43896642, 43903362, 43903365-43903368, 43903411-43903432, 43903709-43903735, 43905033-43905057, 43905293-43905302, 43906203, 43906208, 43906212, 43907778-43907804, 43908079-43908101, 43908184-43908186, 43908193-43908195, 43910095-43910105, 43910217, 43910221, 43910349, 43910863-43910914
374STRC150.949748743718593059744003171-44003197, 44004760, 44004764, 44004814
375STRC150.9635897435897471195044007240-44007266, 44007541-44007563, 44007646-44007648, 44007655-44007657, 44009557-44009567, 44009600, 44009679, 44009683, 44009811
376SPG11150.9983633387888712733244864892-44864895, 44864975, 44955687-44955688, 44955691, 44955694-44955696, 44955699
377DUOX2150.96642995480955156464745392419-45392423, 45392999, 45398483, 45401055-45401060, 45403582-45403586, 45403592-45403632, 45403639-45403674, 45403691-45403747, 45403766, 45403783, 45404850-45404851
378GATM150.9457547169811369127245670583-45670651
379SLC12A1150.9836363636363654330048527121-48527174
380FBN1150.998955431754879861648936954-48936962
381CEP152150.9911379657603244496549036469-49036487, 49061160-49061164, 49076227, 49090187-49090205
382RAB27A150.9984984984985166655522621
383TPM1150.945029239766084785563335029-63335033, 63335069-63335072, 63335077-63335079, 63335918, 63335938, 63335942, 63335990-63335996, 63336006-63336030
384PPIB150.864823348694328865164455093-64455128, 64455134-64455185
385MAP2K1150.993231810490698118266727546-66727553
386CLN6150.899572649572659493668500478-68500488, 68521840-68521922
387NR2E3150.86865942028986145110472103137-72103141, 72103825-72103827, 72103838-72103873, 72103901-72103940, 72104106-72104108, 72104116-72104119, 72104134, 72104153-72104194, 72104320, 72104384-72104387, 72104401, 72104406, 72105852-72105855
388HEXA150.9880503144654119159072668132-72668135, 72668149, 72668153, 72668261-72668270, 72668280-72668281, 72668284
389BBS4150.9878205128205119156073016991, 73023666-73023668, 73023671, 73023674-73023685, 73023693-73023694
390HCN4150.581672203765231511361273614834, 73614845, 73614861-73614940, 73615020-73615081, 73615089-73615094, 73615102-73615176, 73615199-73615206, 73615227-73615324, 73615337-73615338, 73615364-73615440, 73615454-73615541, 73615559-73615659, 73615669-73615680, 73615703-73615747, 73615760-73615780, 73615873-73615894, 73615926, 73615929, 73615948-73615951, 73615973-73615979, 73616004-73616005, 73616032-73616074, 73616080-73616093, 73616138-73616198, 73616209-73616210, 73616226-73616230, 73616240-73616241, 73616430-73616455, 73616514-73616515, 73616546-73616548, 73616562-73616565, 73616570, 73616587, 73622029-73622031, 73624491-73624494, 73624504, 73624548, 73659827-73659830, 73659839-73659850, 73659861-73659864, 73659982-73660004, 73660024-73660064, 73660072-73660611
391MPI150.997641509433963127275188658-75188660
392ETFA150.993013972055897100276603691, 76603695-76603698, 76603706, 76603711
393FAH150.9849206349206319126080445446-80445450, 80445457-80445461, 80445469-80445477
394RPS17150.973039215686271140882821209-82821211, 82824440, 82824443-82824445, 82824537-82824540
395RPS17150.973039215686271140883205552-83205554, 83208783, 83208786-83208788, 83208880-83208883
396FANCI150.999749184850771398789790928
397POLG150.96451612903226132372089866721-89866728, 89876465-89876485, 89876661, 89876738, 89876781-89876791, 89876798, 89876810-89876811, 89876815, 89876821-89876862, 89876866-89876869, 89876911-89876918, 89876930-89876961
398MESP2150.78140703517588261119490319694, 90319736, 90319756, 90319759-90319761, 90319777-90319819, 90319822, 90319827-90319830, 90319841, 90319872, 90319877, 90319888-90319889, 90319895-90319907, 90319924-90320073, 90320081-90320082, 90320106-90320112, 90320119, 90320135-90320146, 90320161, 90320231, 90320278, 90320389-90320390, 90320393-90320399, 90320445, 90320448-90320449, 90320459, 90320478
399VPS33B150.994066882416411185491565385-91565392, 91565431, 91565436, 91565444
400IGF1R150.96466861598441145410499192811-99192904, 99473517-99473522, 99500429-99500437, 99500442-99500446, 99500500, 99500638-99500640, 99500645-99500671
401HBZ160.36130536130536274429203891-204095, 204271-204315, 204322-204345
402HBM160.72535211267606117426216002-216007, 216033-216034, 216076, 216079-216081, 216267-216270, 216280-216282, 216304-216311, 216335-216361, 216363-216366, 216370-216372, 216374-216375, 216383-216391, 216395, 216398-216399, 216402-216436, 216446-216452
403HBA2160.76456876456876101429222920-222961, 222967-223006, 223198, 223216, 223224-223231, 223235, 223240, 223255-223261
404GNPTG160.9400871459695559181401967-1402018, 1402291-1402293
405CLCN7160.8999172870140624224181497054, 1497393-1497401, 1497422-1497448, 1497550-1497551, 1497554-1497555, 1497563, 1497568, 1497677-1497678, 1497706-1497713, 1500501-1500527, 1500616-1500618, 1500634, 1501624-1501625, 1502851, 1509175-1509188, 1524835-1524975
406IGFALS160.7613871635610846119321840622-1840663, 1840687-1840711, 1840730, 1840734-1840735, 1840746-1840753, 1840762, 1840765, 1840770-1840771, 1840797, 1840874-1840893, 1840935-1840943, 1840979-1840989, 1841016, 1841077-1841079, 1841131-1841135, 1841169, 1841182-1841185, 1841195, 1841204-1841208, 1841283-1841301, 1841336, 1841341-1841343, 1841346, 1841401-1841403, 1841419-1841430, 1841439-1841443, 1841496-1841497, 1841502-1841503, 1841554-1841557, 1841560, 1841564, 1841571-1841572, 1841581-1841584, 1841605-1841655, 1841736, 1841762-1841785, 1841806-1841848, 1841886-1841933, 1841943-1841944, 1841955-1841973, 1841976-1841989, 1841995, 1842009-1842015, 1842069-1842105, 1842246-1842248, 1842298, 1842315-1842316, 1842323-1842325, 1842393, 1842488
407GFER160.559870550161812726182034220-2034477, 2034782-2034784, 2034791-2034798, 2034853-2034854, 2034859
408TSC2160.9717920353982315354242103358-2103387, 2103398-2103401, 2103405, 2103448, 2106210, 2106213, 2106217-2106222, 2106225, 2106233, 2106655, 2106662-2106663, 2112549, 2112979, 2112985-2112990, 2114407, 2121551-2121557, 2121842, 2121869-2121870, 2121878, 2121891-2121896, 2121901, 2121904, 2121917-2121924, 2121930-2121935, 2124273, 2124368, 2124371-2124372, 2130207, 2130216, 2133707-2133714, 2134395, 2136202-2136203, 2136260-2136297, 2136326, 2136344, 2136367-2136371
409PKD1160.748528500619583247129122139728-2139738, 2139800-2139848, 2139862-2139871, 2139880, 2139883-2139888, 2139894, 2139905, 2140095-2140105, 2140133-2140166, 2140300-2140302, 2140390, 2140454, 2140680-2140681, 2140743-2140775, 2140791-2140809, 2140907-2140945, 2140956-2141175, 2141424-2141517, 2141524-2141536, 2141541-2141542, 2141560-2141564, 2141571, 2141593-2141598, 2141785-2141786, 2141794-2141797, 2141803, 2141812, 2141828-2141861, 2141870, 2142568, 2143070, 2143080, 2143949, 2147173, 2147186-2147198, 2147204-2147212, 2147410-2147416, 2147469-2147470, 2147484-2147485, 2147488-2147498, 2147914-2147954, 2149749, 2149873-2149921, 2149933-2149972, 2150056-2150072, 2150208, 2150212, 2150227, 2150241, 2150248, 2150281, 2150478-2150521, 2150554-2150567, 2152086-2152092, 2153267-2153275, 2153295-2153311, 2153365-2153395, 2153613-2153624, 2153652-2153748, 2153755-2153796, 2153837-2153838, 2153850-2153851, 2153870-2153875, 2154569-2154643, 2155323-2155327, 2155333-2155388, 2155453, 2155949-2155996, 2156018-2156025, 2156109-2156126, 2156195, 2156254-2156256, 2156259-2156260, 2156427-2156478, 2156494-2156526, 2156600, 2156610, 2156656-2156678, 2156820-2156853, 2156926-2156941, 2158289, 2158296-2158305, 2158382-2158422, 2158511, 2158524-2158525, 2158529, 2158537-2158539, 2158552-2158560, 2158565, 2158570, 2158576-2158578, 2158591, 2158679-2158686, 2158691, 2158696-2158729, 2158737-2158744, 2158747-2158749, 2158751-2158758, 2158763-2158770, 2158834-2158856, 2158873-2158900, 2158921-2158961, 2159075-2159130, 2159162-2159194, 2159224-2159299, 2159311-2159319, 2159355, 2159391-2159394, 2159398, 2159413, 2159416, 2159453-2159488, 2159608, 2159629, 2159635-2159637, 2159792-2159798, 2159960-2159999, 2160134-2160149, 2160316, 2160466, 2160471-2160473, 2160686-2160729, 2160772, 2160775, 2161220-2161222, 2161299, 2161313, 2161362-2161372, 2161465-2161479, 2161599, 2161673, 2161745-2161750, 2161759-2161764, 2161772-2161790, 2161801-2161818, 2161829, 2162379, 2162461, 2162789-2162805, 2162828-2162873, 2162952-2162964, 2163162-2163165, 2163174-2163181, 2163268-2163274, 2164218-2164220, 2164224, 2164294, 2164324, 2164400-2164436, 2164492-2164493, 2164698-2164704, 2164789-2164832, 2165386-2165407, 2165441-2165468, 2165483-2165507, 2165522, 2165535-2165536, 2165540, 2166542-2166543, 2166834-2166838, 2166842-2166843, 2166867-2166876, 2166885-2166887, 2166897-2166904, 2166914, 2166919, 2166930, 2166957, 2166973-2167001, 2167027, 2167560-2167580, 2167658-2167673, 2167798-2167818, 2167829-2167861, 2167868-2167905, 2167914-2168001, 2168037-2168097, 2168115-2168217, 2168233-2168255, 2168271-2168419, 2168443-2168445, 2168448, 2168711, 2168714-2168715, 2168735, 2168740, 2169371-2169379, 2185476-2185690
410ABCA3160.983773216031288351152328988, 2333194-2333195, 2334334, 2334339, 2334937-2334939, 2334953-2334955, 2334983-2334984, 2334989, 2334992, 2334997-2334998, 2335452-2335455, 2338077, 2338086-2338094, 2338102-2338116, 2339610, 2339614, 2339618-2339620, 2358590, 2367687-2367708, 2367749, 2369654-2369661
411MEFV160.965473145780058123463297077, 3304405-3304411, 3304500, 3304525-3304528, 3304540, 3304542-3304543, 3304549, 3304554-3304558, 3304573, 3304592-3304632, 3304654, 3304676-3304683, 3304724-3304725, 3304752-3304754, 3306346-3306347, 3306362
412SLX4160.9783832879200711955053632384, 3632395, 3632483, 3632488-3632495, 3632500-3632502, 3632505-3632510, 3632518-3632520, 3632527, 3632566, 3632587, 3632590-3632596, 3632600, 3632603, 3632608, 3633281-3633282, 3639139, 3639260, 3639274-3639276, 3639445-3639449, 3639455-3639458, 3639494, 3639501, 3639506, 3639515-3639516, 3639777, 3639780-3639782, 3639785-3639804, 3639815, 3639821-3639823, 3639842, 3639902, 3639907, 3639946-3639953, 3639964, 3639973-3639977, 3642801-3642804, 3642808, 3646339-3646343, 3647842-3647844, 3647848, 3647863, 3647870, 3651029
413CREBBP160.902578796561671473293777719-3777735, 3777745-3777770, 3778090, 3778211, 3778249-3778255, 3778289, 3778298-3778299, 3778303-3778305, 3778312-3778318, 3778331-3778334, 3778353, 3778366-3778367, 3778386-3778464, 3778483-3778489, 3778538-3778581, 3778623-3778646, 3778734-3778753, 3778777-3778781, 3778787-3778793, 3778800-3778813, 3778822-3778858, 3778868-3778872, 3778881, 3778887, 3778932-3778936, 3778938, 3778948-3778949, 3778960-3778983, 3778987, 3778993-3778996, 3779022-3779025, 3779037, 3779076, 3779082, 3779128-3779154, 3779160, 3779164-3779171, 3779173-3779185, 3779192-3779193, 3779203-3779222, 3779234-3779281, 3779361-3779364, 3779380-3779387, 3779403-3779410, 3779423-3779499, 3779705-3779732, 3820595-3820598, 3820601, 3820772, 3820796, 3828046-3828060, 3900795-3900796, 3900824, 3929833-3929917
414GLIS2160.8641269841269821415754384809, 4384862, 4385071-4385078, 4385188, 4386750, 4386808, 4386811, 4386976, 4386993-4387023, 4387031, 4387034, 4387042, 4387045-4387054, 4387074, 4387078-4387081, 4387084-4387088, 4387144-4387180, 4387186-4387214, 4387250-4387254, 4387258, 4387364-4387377, 4387385-4387417, 4387439-4387453, 4387455-4387465
415ALG1160.8681003584229418413955121870, 5121876, 5121896, 5121902-5121908, 5121912-5121914, 5121922-5121923, 5121932, 5127911-5127917, 5128799, 5128809, 5128815-5128819, 5128832-5128834, 5128848-5128863, 5128866-5128871, 5128878-5128879, 5129071, 5130959-5130999, 5131028-5131057, 5132636, 5132657-5132659, 5133741-5133758, 5134751-5134782, 5134818
416ABAT160.99800399201597315038829650, 8870207, 8870210
417PMM2160.94197031039136437418891747-8891788, 8891801
418MYH11160.996296296296322594015808851, 15809032, 15809041, 15809051-15809052, 15809107, 15811123-15811137, 15835737
419ABCC6160.9818262411347582451216244041, 16244048, 16244051, 16248830, 16248850, 16263535, 16267142-16267145, 16276715-16276716, 16276724, 16276728-16276729, 16276743-16276761, 16313412, 16313416-16313423, 16315610, 16315617-16315618, 16317256-16317291
420UMOD160.9745189807592349192320344659, 20344668, 20355367, 20357479-20357484, 20359860, 20359862-20359874, 20359876-20359880, 20359884, 20359945-20359946, 20359950-20359957, 20360135, 20360138-20360140, 20360149-20360154
421OTOA160.9894736842105336342021696590, 21696603-21696610, 21696614, 21742158-21742182, 21768446
422SCNN1G160.999487179487181195023200799
423SCNN1B160.9776391055642243192323359961-23359977, 23359981-23359986, 23360063-23360070, 23391907, 23391915-23391919, 23392071-23392072, 23392078-23392081
424COG7160.9835711197578938231323415046-23415050, 23415060-23415081, 23436137, 23436153-23436158, 23436174-23436176, 23464157
425CLN3160.983295368261222131728493657-28493665, 28497681, 28497695, 28497702-28497707, 28497712-28497716
426TUFM160.9568713450292459136828857332, 28857343, 28857346-28857348, 28857359, 28857370, 28857393-28857427, 28857555-28857570, 28857581
427ATP2A1160.9833666001330750300628911946-28911961, 28911965-28911968, 28911972-28911989, 28912017, 28912020-28912021, 28912030-28912033, 28912150, 28912155, 28912160, 28913609, 28914726
428CD19160.996409335727116167128948362-28948364, 28948999-28949001
429PHKG2160.90745290745291113122130760142-30760236, 30768138-30768139, 30768312-30768313, 30768324-30768330, 30768340-30768346
430VKORC1160.959349593495932049231102655, 31104731, 31104735-31104740, 31105919, 31105950-31105955, 31105976-31105977, 31105980-31105981, 31105984
431FUS160.9348513598988103158131195282-31195287, 31195292, 31195310-31195321, 31195551, 31195589-31195628, 31195676-31195717, 31196436
432SLC5A2160.94353640416048114201931497562, 31499741, 31500016-31500024, 31500034-31500039, 31500060-31500071, 31500080-31500085, 31500233-31500237, 31500291-31500319, 31500326-31500369, 31500638
433PHKB160.999085923217553328247695674-47695675, 47698837
434NOD2160.9855907780979845312350744765-50744768, 50744843, 50744996-50744997, 50745199, 50745366-50745367, 50745370-50745375, 50745386-50745392, 50745482-50745488, 50745541-50745542, 50745803-50745807, 50745817-50745823, 50746250
435CYLD160.999650593990221286250785719
436SALL1160.96075471698113156397551175414-51175423, 51175451-51175493, 51175519, 51175528-51175533, 51175537, 51175640-51175700, 51175706-51175727, 51175793, 51175802, 51185092-51185100, 51185114
437RPGRIP1L160.9931610942249227394853656214-53656236, 53679651, 53691443-53691445
438MMP2160.94503277861826109198355513392-55513396, 55513404-55513405, 55513419, 55513422, 55513425-55513467, 55513476, 55513480, 55513492-55513496, 55513498-55513499, 55513503-55513505, 55513507-55513544, 55525744-55525747, 55530848, 55530879, 55530884
439BBS2160.996306555863348216656536346-56536353
440SLC12A3160.9922405431619824309356899260, 56901025, 56904584-56904588, 56913046, 56921839, 56921926-56921940
441CETP160.997975708502023148257003346-57003348
442COQ9160.957157784743994195757481418-57481437, 57481446-57481459, 57481477-57481483
443GPR56160.9854651162790730206457684243, 57689416-57689442, 57695721, 57697465
444CNGB1160.9904153354632636375657918189-57918196, 57918201, 57918233-57918236, 57918326-57918345, 57921791-57921792, 57957186
445TK2160.952380952380954492466583848-66583856, 66583876, 66583897-66583910, 66583923-66583927, 66583970, 66584027-66584031, 66584037-66584045
446HSD11B2160.73809523809524319121867465152-67465374, 67465387, 67465394, 67465402, 67469666, 67469965-67469970, 67469972, 67469987, 67469990-67470005, 67470009-67470010, 67470022-67470027, 67470029-67470034, 67470045, 67470501, 67470531-67470532, 67470536-67470574, 67470596, 67470599, 67470671, 67470675-67470679, 67470681, 67470687, 67470705
447LCAT160.90325018896447128132367973960, 67973979-67973981, 67973986-67973992, 67973998, 67974004, 67976455, 67976459, 67976480-67976482, 67976484-67976490, 67976574-67976581, 67976610-67976616, 67976772, 67976776, 67976841, 67976848-67976852, 67976866-67976869, 67976878-67976879, 67976972-67977022, 67977088-67977093, 67977097-67977108, 67977985, 67977988-67977991
448CDH3160.971887550200870249068679542-68679561, 68679567-68679593, 68679603-68679612, 68679616-68679617, 68679621-68679624, 68679632, 68679640-68679642, 68725749-68725751
449CDH1160.9796149490373754264968771319-68771366, 68772278-68772280, 68863594-68863596
450COG8160.88254486133768216183969364750, 69364765-69364768, 69364772-69364782, 69364787-69364790, 69364801-69364810, 69364830-69364836, 69366733-69366736, 69368833-69368844, 69369098, 69373088-69373094, 69373118-69373138, 69373141-69373144, 69373149-69373154, 69373209-69373275, 69373285-69373316, 69373328-69373332, 69373335-69373337, 69373341-69373347, 69373352-69373354, 69373361-69373362, 69373368, 69373408, 69373412-69373414
451HP160.9975429975433122172088552-72088554
452GCSH160.821839080459779352281129761-81129762, 81129773-81129778, 81129799-81129883
453GAN160.90635451505017168179481348719-81348885, 81391467
454MLYCD160.65384615384615513148283932750-83933253, 83933259-83933262, 83933265, 83933271, 83948766, 83948771-83948772
455LRRC50160.9935720844811814217884179080, 84179095-84179100, 84179144, 84179169, 84199440-84199444
456FOXF1160.55513114086544176-86544310, 86544357-86544392, 86544402-86544433, 86544444-86544492, 86544517-86544541, 86544554, 86544562-86544564, 86544567-86544572, 86544577, 86544579-86544636, 86544689-86544698, 86544704-86544705, 86544708-86544712, 86544717-86544733, 86544736, 86544745-86544748, 86544763, 86544774, 86544872, 86544878, 86544884-86544885, 86544888-86544889, 86544900-86545002, 86545101-86545104, 86545111-86545115, 86545121, 86545126-86545130, 86546606, 86546690
457FOXC2160.45152722443559826150686600987-86600993, 86601024, 86601027, 86601033-86601035, 86601042, 86601053-86601116, 86601319-86601325, 86601339-86601373, 86601384, 86601389, 86601417-86601431, 86601436-86601441, 86601452-86601456, 86601462, 86601472-86601526, 86601566, 86601584-86601586, 86601596-86602201, 86602273-86602284, 86602442
458JPH3160.82153983088563401224787636854-87636858, 87636862, 87636868-87636882, 87636923-87636925, 87636928, 87637060-87637061, 87678037-87678038, 87678041-87678046, 87678136-87678137, 87678144, 87678156-87678161, 87678255, 87678463-87678471, 87678541-87678563, 87678574-87678582, 87717838, 87723252-87723263, 87723326-87723344, 87723353-87723361, 87723365-87723371, 87723419-87723459, 87723469-87723472, 87723489-87723495, 87723519-87723586, 87723593-87723613, 87723636-87723641, 87723665-87723670, 87723674-87723684, 87723690-87723693, 87723706-87723716, 87723721-87723768, 87723771-87723773, 87723888-87723906, 87723969, 87723981-87723982, 87723986, 87724013-87724019, 87724097-87724103
459CYBA160.6411564625850321158888709761-88709787, 88709794-88709801, 88709827-88709830, 88709837, 88709849-88709979, 88712574-88712580, 88712584, 88712587, 88712589, 88712592-88712594, 88712603, 88717364-88717375, 88717377-88717388, 88717392, 88717400
460APRT160.837937384898718854388876234-88876248, 88876529-88876530, 88878027, 88878049-88878050, 88878230-88878276, 88878287-88878307
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563MYO5B180.98034973859744109554747373605-47373612, 47379934-47379944, 47421334-47421365, 47429017, 47429020-47429022, 47429117-47429125, 47429129-47429132, 47429136, 47429141, 47429156-47429157, 47432947, 47432950, 47480721-47480724, 47480727, 47500836-47500838, 47721137-47721163
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565FECH180.9302325581395390129055238701, 55238706-55238707, 55247367-55247386, 55253786-55253852
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578MAP2K2190.9127182044887810512034099199-4099208, 4102375-4102377, 4123781-4123872
579NDUFA11190.9859154929577564265896493-5896496, 5896578, 5896584
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582INSR190.9744516751024310641497122943, 7174619, 7184424, 7184513, 7184518, 7184521, 7293803-7293902
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595CYP4F22190.99686716791985159615636267, 15636327, 15651504-15651506
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600SLC7A9190.999316939890711146433350764
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602SCN1B190.950433705080554080735521725-35521764
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607TYROBP190.99115044247788333936398452, 36398476-36398477
608SDHAF1190.6063218390804613734836486177-36486208, 36486212-36486213, 36486216, 36486219-36486223, 36486226-36486236, 36486257-36486266, 36486311-36486314, 36486319-36486321, 36486333-36486370, 36486399-36486427, 36486444-36486445
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614TGFB1190.86104006820119163117341837012-41837019, 41837028-41837077, 41837084, 41837099-41837107, 41838179-41838180, 41854247, 41854250-41854256, 41854282-41854287, 41858639-41858659, 41858717, 41858720-41858736, 41858739-41858741, 41858743, 41858751-41858753, 41858868-41858870, 41858873, 41858908-41858935, 41858944
615BCKDHA190.9865470852017918133841903791, 41903801, 41928628, 41930450-41930459, 41930465-41930469
616ATP1A3190.90619902120718345367842470806, 42470922-42470925, 42470974-42470985, 42470996, 42471010-42471057, 42471079-42471086, 42471105-42471114, 42471126, 42471129-42471130, 42471289-42471346, 42471355-42471394, 42471425-42471472, 42479851-42479852, 42479864-42479867, 42479875-42479882, 42479893-42479895, 42480568-42480626, 42480643-42480651, 42480671-42480674, 42480694, 42480701-42480703, 42480712-42480718, 42482099, 42482339, 42489086-42489088, 42489263, 42498223-42498228
617ETHE1190.941176470588244576544011009, 44012096-44012113, 44030778, 44031256, 44031271-44031273, 44031279-44031287, 44031295-44031300, 44031303-44031304, 44031310-44031313
618BCAM190.89719130895601194188745312387-45312447, 45315620, 45317499, 45321849-45321850, 45321859-45321868, 45321871-45321876, 45322132-45322138, 45322959-45322961, 45323963-45323968, 45323980-45324028, 45324038-45324079, 45324173-45324178
619APOE190.4350104821802953995445411066-45411070, 45411074-45411077, 45411194, 45411790-45411798, 45411872, 45411876-45411885, 45411894-45411898, 45411905-45411906, 45411923, 45411945, 45411951, 45411956-45411976, 45411987-45412023, 45412031-45412080, 45412097-45412270, 45412277-45412291, 45412306-45412507
620APOC2190.98366013071895530645451976-45451980
621BLOC1S3190.4039408866995136360945682564-45682589, 45682695-45682696, 45682703-45682727, 45682732, 45682734-45682737, 45682743, 45682758-45682761, 45682776, 45682778-45682782, 45682786-45682789, 45682831-45683117, 45683131, 45683140, 45683157
622ERCC2190.9526938239159108228345854956-45854960, 45856389-45856391, 45867014-45867015, 45867036-45867037, 45867084-45867103, 45867108, 45867113-45867118, 45867122, 45867146-45867169, 45867250-45867251, 45867303, 45867310-45867312, 45867316, 45867320-45867329, 45867333-45867337, 45867351-45867356, 45867364, 45867532, 45867574, 45867580-45867586, 45873480, 45873794-45873798
623OPA3190.952117863720072654346032399, 46032403-46032406, 46032427, 46032527-46032541, 46087904-46087908
624SIX5190.69369369369369680222046268862-46268865, 46269217, 46269232, 46269259, 46269306, 46269313, 46269690-46269691, 46270121, 46270124-46270126, 46270131-46270154, 46270160, 46270163-46270167, 46270366-46270369, 46271300-46271301, 46271322-46271324, 46271340-46271349, 46271378-46271379, 46271392-46271402, 46271405, 46271422-46271444, 46271453-46271461, 46271466-46271467, 46271470, 46271484-46271490, 46271496-46271498, 46271501-46271503, 46271535-46271536, 46271540-46271542, 46271547-46271551, 46271559-46272102
625DMPK190.89365079365079201189046273754-46273755, 46273761, 46273778-46273781, 46273888-46273898, 46274252-46274254, 46274262-46274266, 46274270, 46274273, 46274278-46274280, 46274304, 46274311-46274318, 46280658, 46285451-46285610
626FKRP190.54771505376344673148847258791-47258795, 47258806-47258810, 47258819-47258821, 47258841, 47258929, 47258940, 47258974-47258976, 47259005, 47259014-47259015, 47259019, 47259026-47259030, 47259042, 47259047, 47259054-47259077, 47259084-47259087, 47259116-47259118, 47259122-47259126, 47259136-47259140, 47259152-47259557, 47259601-47259686, 47259694, 47259696-47259700, 47259711-47259716, 47259719, 47259721, 47259724-47259742, 47259748, 47259758-47259762, 47259765, 47259843, 47259858, 47259900-47259901, 47259925, 47259929-47259933, 47260027-47260033, 47260052-47260089, 47260134-47260136, 47260139, 47260145-47260148, 47260151, 47260161-47260162, 47260170-47260172, 47260177
627CRX190.99990048342631-48342635, 48342643, 48342668-48342670
628DBP190.6625766871165633097849138837-49139097, 49139109-49139112, 49139115-49139120, 49139132-49139181, 49139232-49139236, 49139239, 49140175, 49140201, 49140217
629BCAT2190.995759117896525117949303514, 49314250-49314251, 49314255, 49314262
630GYS1190.996838301716357221449473864, 49473874-49473879
631MED25190.9024064171123219224450321619-50321635, 50321671, 50321699, 50321841-50321847, 50333047, 50333100-50333102, 50333108-50333116, 50333121-50333122, 50333125-50333131, 50333196-50333197, 50333427-50333447, 50333780-50333784, 50333791-50333794, 50333797-50333802, 50334046-50334047, 50334064-50334065, 50334071, 50334076-50334077, 50334090-50334096, 50334117-50334144, 50335404-50335405, 50335411-50335414, 50338409-50338420, 50338423-50338434, 50338809-50338857, 50339029, 50339174, 50339537, 50339540-50339548
632PNKP190.87994891443167188156650364512-50364514, 50364523, 50364532, 50364881-50364882, 50364890-50364895, 50364942, 50365029-50365033, 50365036-50365038, 50365041-50365043, 50365132-50365138, 50365308, 50365320-50365330, 50365361, 50365476-50365519, 50365631-50365677, 50365807-50365812, 50365827, 50365830-50365832, 50365835, 50365838-50365842, 50365852, 50365855, 50365858-50365865, 50365947-50365969, 50365993-50365995
633MYH14190.95925380461463249611150713645-50713663, 50713666-50713680, 50713687-50713708, 50713713, 50713730-50713735, 50713820-50713830, 50713884, 50713927, 50713982, 50714009, 50728843, 50753890-50753892, 50753918, 50753934, 50758556, 50762408, 50762418, 50762432-50762437, 50764831, 50766620, 50770174-50770179, 50770199-50770263, 50779274, 50779277, 50779427-50779431, 50780080-50780087, 50780109-50780113, 50780134-50780155, 50781450-50781454, 50784857-50784872, 50784918, 50784925, 50789920, 50789923-50789925, 50792712-50792721, 50812930-50812932, 50812936
634KCNC3190.503078276165351130227450823503-50823606, 50824002-50824004, 50824010-50824039, 50826284-50826285, 50826293, 50826337, 50826342-50826368, 50826373-50826375, 50826379-50826383, 50826399-50826400, 50826405-50826419, 50826426-50826427, 50826430-50826435, 50826438, 50826441-50826478, 50826495-50826499, 50826545, 50826636-50826639, 50826644-50826645, 50826648, 50826651-50826654, 50826670-50826672, 50831470-50832339
635KLK4190.882352941176479076551410328, 51412520-51412523, 51412533-51412544, 51412562, 51412599-51412670
636ETFB190.9817483189241119104151850197-51850204, 51856433-51856434, 51857407-51857414, 51857564
637NLRP12190.94538606403013174318654297305-54297307, 54297348, 54299144-54299151, 54304620-54304623, 54312878-54312884, 54313180-54313208, 54313510, 54313556-54313573, 54313587, 54313625-54313672, 54313849-54313877, 54313973, 54314080-54314083, 54314087-54314091, 54314094-54314099, 54314102, 54314106-54314110, 54314381, 54314385, 54314436
638PRKCG190.80276981852913413209454385749-54385918, 54387483-54387497, 54392917-54392951, 54392961-54392962, 54392968-54393002, 54393140-54393271, 54401834-54401845, 54403971-54403975, 54409599, 54410002, 54410009-54410012, 54410036
639PRPF31190.9926666666666711150054627142, 54627145, 54627156, 54627166, 54627169, 54627878, 54627889-54627892, 54632441
640TSEN34190.8553054662379413593354695216-54695240, 54695280-54695341, 54695348-54695349, 54695362-54695401, 54695410, 54695427, 54695432, 54695439, 54695749, 54696094
641NLRP7190.9833012202954452311455450693-55450699, 55450723-55450749, 55451043-55451045, 55451050, 55451083, 55451167-55451173, 55451204, 55451216-55451219, 55451222
642TNNT1190.7465145754119120078955644322, 55648477, 55648513-55648580, 55652251-55652316, 55652322-55652328, 55657802-55657831, 55658049-55658075
643TNNI3190.7865353037766813060955667569-55667576, 55667579-55667636, 55667649-55667700, 55668010-55668012, 55668426-55668432, 55668435, 55668442
644AURKC190.981720430107531793057744960-57744976
645TPO20.9050678087080726628021480866, 1480869-1480889, 1480892-1480900, 1480913-1480933, 1480939-1480957, 1480961-1480974, 1480982-1481045, 1481057, 1481062, 1481065, 1481074-1481082, 1481090-1481091, 1481103-1481107, 1481115-1481130, 1481134-1481135, 1481146-1481150, 1481154, 1481159-1481161, 1481188-1481205, 1481224-1481251, 1481269-1481275, 1481285, 1481295-1481297, 1481326-1481334, 1481342, 1481361-1481364
646RPS720.95384615384615275853623230-3623237, 3623240, 3623246, 3623258-3623274
647KLF1120.9623131903833758153910183844-10183885, 10188182-10188187, 10188204-10188205, 10188208, 10188212-10188218
648LPIN120.985035540591140267311911751-11911766, 11911787-11911805, 11935600, 11955323, 11955327-11955329
649MYCN20.68745519713262436139516082187-16082197, 16082301-16082303, 16082316-16082317, 16082392-16082396, 16082399, 16082405-16082408, 16082454-16082459, 16082465-16082466, 16082469, 16082473-16082475, 16082482-16082486, 16082492-16082498, 16082538-16082920, 16085848-16085849, 16086019
650MATN320.8590006844627206146120212179-20212186, 20212195-20212392
651APOB20.99393806602396831369221255301, 21266736-21266817
652POMC20.804726368159215780425384140-25384164, 25384175, 25384179-25384180, 25384191, 25384200, 25384203, 25384250, 25384302-25384327, 25384342-25384364, 25384374-25384383, 25384387-25384390, 25384410, 25384412-25384417, 25384422-25384432, 25384437-25384441, 25384443-25384448, 25384456, 25384460, 25384464-25384493, 25384513
653HADHA20.999563699825481229226417502
654OTOF20.92976309642976421599426684951-26684955, 26684963-26684966, 26684974, 26685031-26685032, 26685035-26685041, 26688548, 26696891-26696895, 26696898, 26696903-26696912, 26696917-26696920, 26696923-26696926, 26696929, 26696964-26696970, 26697386-26697391, 26697394, 26697399, 26697411-26697428, 26697444-26697450, 26697454-26697491, 26697529-26697542, 26698835-26698841, 26699110-26699129, 26699153-26699185, 26699759-26699911, 26700062-26700065, 26700087, 26700096, 26700109-26700114, 26700117-26700156, 26700302-26700308, 26700315-26700317, 26700334-26700335, 26700338, 26702464, 26703677, 26712606-26712608, 26750763
655EIF2B420.996323529411766163227591910, 27592857, 27592860-27592863
656C2orf7120.9886216705456444386729287880, 29293524, 29293638-29293642, 29293644-29293645, 29293648, 29293652-29293657, 29293660-29293663, 29293669, 29293837, 29293881-29293895, 29293985-29293988, 29294055, 29294883, 29295458
657ALK20.9843717869627876486329462638, 29462666, 29754865, 29754885-29754891, 29754895, 29754904, 30143045, 30143131, 30143170, 30143191, 30143208, 30143211, 30143215, 30143237-30143242, 30143252, 30143264-30143267, 30143373, 30143377-30143378, 30143402-30143431, 30143458-30143460, 30143470, 30143480-30143483, 30143493-30143495, 30143499, 30143524
658XDH20.999250374812593400231560613, 31588860, 31598404
659SRD5A220.942257217847774476231805706, 31805769, 31805775, 31805778, 31805802, 31805816, 31805828-31805864, 31805874
660SPAST20.79524581307401379185132288904-32288911, 32288938-32288951, 32288957-32288962, 32288972-32289315, 32312563, 32341196-32341201
661CYP1B120.78860294117647345163238301670-38301676, 38301918-38301920, 38301930, 38301936, 38301958-38302059, 38302066-38302103, 38302122-38302127, 38302135, 38302138-38302221, 38302229-38302235, 38302238-38302240, 38302260-38302262, 38302292-38302293, 38302297-38302298, 38302303, 38302309-38302315, 38302318, 38302321-38302333, 38302338-38302346, 38302390-38302392, 38302403-38302408, 38302411, 38302416-38302418, 38302421, 38302425-38302426, 38302463-38302498, 38302530-38302531
662SOS120.999250374812593400239347478, 39347543, 39347546
663ABCG520.9754601226993948195644055135, 44055143, 44058953-44058954, 44058961, 44058978-44058990, 44059103, 44059107-44059115, 44059126, 44059129-44059131, 44059196-44059203, 44059209, 44059213-44059218, 44059222
664ABCG820.999505440158261202244102396
665LRPPRC20.9949820788530521418544115759, 44222946, 44222949, 44222954-44222956, 44222963, 44222997, 44223002, 44223006, 44223012, 44223045-44223048, 44223061, 44223068, 44223072-44223075
666SLC3A120.9917395529640417205844502827-44502836, 44502844-44502849, 44539745
667SIX320.6886886886886931199945169244-45169282, 45169300-45169304, 45169329-45169340, 45169347-45169348, 45169361-45169441, 45169445-45169448, 45169459, 45169501-45169509, 45169523, 45169527-45169529, 45169533-45169591, 45169635-45169637, 45169645-45169654, 45169763-45169803, 45170029-45170033, 45171738-45171744, 45171747, 45171751-45171762, 45171772-45171773, 45171777, 45171790-45171793, 45171798-45171803, 45171842, 45171849-45171850
668EPCAM20.975661375661382394547596667-47596681, 47596690-47596692, 47596709, 47596712, 47601100-47601102
669MSH220.997147950089138280547630451-47630452, 47630458, 47630475-47630476, 47630479, 47630513, 47641543
670MSH620.93607641440118261408348010373-48010632, 48033689
671LHCGR20.955238095238194210048982672-48982711, 48982733, 48982736, 48982738-48982758, 48982762-48982776, 48982786-48982791, 48982797-48982805, 48982810
672FSHR20.998084291187744208849190506-49190508, 49190527
673NRXN120.91841807909605361442551254678-51254684, 51254760-51254766, 51254780-51254816, 51254831-51254841, 51254882, 51254916-51254932, 51254947-51254991, 51255023, 51255032-51255034, 51255038, 51255050-51255051, 51255083-51255132, 51255149-51255189, 51255211-51255226, 51255250-51255298, 51255315, 51255318, 51255322-51255323, 51255343-51255411
674EFEMP120.9892037786774616148256103758, 56103761, 56103836, 56144967-56144974, 56144989-56144993
675PEX1320.999174917491751121261258872
676ATP6V1B120.9675745784695250154271163085-71163090, 71163126, 71163133, 71163149, 71163153, 71163185-71163186, 71163192, 71170802, 71188051-71188085, 71192139
677MCEE20.99811676082863153171337211
678DYSF20.9911949685534656636071693973-71693975, 71693991-71694004, 71694033-71694038, 71753363, 71753428, 71753456-71753476, 71827921-71827930
679SPR20.6424936386768428178673114562-73114839, 73114855-73114857
680ALMS120.988483685220731441250473612999-73613003, 73613022-73613023, 73613027-73613031, 73613038-73613042, 73613053-73613105, 73613139-73613169, 73613302, 73675603, 73675983-73675987, 73676160, 73676493-73676494, 73676505-73676508, 73676529-73676531, 73676534, 73676873-73676874, 73677584-73677587, 73678496, 73679413, 73679535, 73786114-73786116, 73786126, 73786130-73786133, 73827996-73828002, 73828342
681SLC4A520.9868189806678445341474460622, 74466475-74466481, 74474274-74474279, 74479411, 74513010-74513029, 74531616-74531625
682DCTN120.9867083659108751383774590512-74590515, 74590520, 74590526-74590532, 74593119, 74593123, 74596545, 74596548, 74597935-74597941, 74598123, 74598760-74598768, 74598771, 74598774-74598781, 74598787-74598795
683MOGS20.9685759745425679251474688809, 74692117, 74692122-74692131, 74692145-74692147, 74692168-74692172, 74692178, 74692245-74692283, 74692301-74692309, 74692357, 74692361-74692364, 74692370-74692374
684HTRA220.89905591866376139137774757134-74757145, 74757155-74757163, 74757172-74757177, 74757185-74757210, 74757222-74757223, 74757242-74757244, 74757254-74757259, 74757268, 74757272-74757273, 74757285-74757288, 74757295, 74757300-74757302, 74757312-74757315, 74757336-74757339, 74757349-74757355, 74757359-74757371, 74757384-74757387, 74757400, 74757407-74757408, 74757411, 74757421, 74757431-74757437, 74757447-74757462, 74757537, 74757579-74757581
685SUCLG120.993275696445737104184686325, 84686328-84686330, 84686333-84686335
686GGCX20.9907773386034321227785785670-85785672, 85785675, 85788001, 85788521-85788524, 85788528-85788534, 85788537-85788541
687SFTPB20.999127399650961114685895295
688REEP120.947194719471953260686564602-86564633
689EIF2AK320.95374515070128155335188926485-88926506, 88926620-88926705, 88926718-88926720, 88926723-88926735, 88926738-88926765, 88926774-88926775, 88926791
690RPIA20.979700854700851993688991257-88991263, 88991266-88991268, 88991281, 88991291-88991295, 88991298, 88991307, 88991310
691TMEM12720.8312412831241312171796930886-96930911, 96930920-96930927, 96930965-96930974, 96930977-96930985, 96930991-96930995, 96931008-96931013, 96931047-96931050, 96931053, 96931068-96931119
692SNRNP20020.9981282171268112641196940879-96940881, 96947642-96947646, 96947656-96947659
693ZAP7020.8741935483871234186098340555-98340568, 98340601-98340642, 98340655-98340693, 98340724, 98340730-98340774, 98340785-98340799, 98340809-98340884, 98350986, 98351171
694RANBP220.979741602067181969675109336063-109336068, 109336070, 109336073-109336083, 109336117-109336134, 109347317-109347341, 109352632-109352638, 109357110-109357116, 109367984-109367989, 109368104-109368110, 109369604-109369615, 109370289-109370295, 109370398, 109371385-109371391, 109383268-109383274, 109383315-109383321, 109383354-109383371, 109383769-109383798, 109383971-109383977, 109397773, 109398761, 109399136, 109399233-109399241
695MERTK20.96733333333333983000112656313-112656373, 112786292-112786319, 112786353, 112786357, 112786411-112786414, 112786425-112786426, 112786430
696PAX820.95787139689579571353113994202-113994213, 113999210-113999254
697GLI220.817055240495698714761121555009-121555044, 121708979-121709019, 121712962, 121713004, 121726309, 121726339-121726341, 121726363-121726366, 121726479-121726491, 121727997-121728001, 121728013-121728018, 121728097-121728099, 121728172-121728182, 121729602-121729639, 121745822-121745827, 121745851-121745852, 121745858-121745866, 121745904-121745909, 121745918-121745923, 121745932-121745936, 121745946, 121745989-121745995, 121746006-121746010, 121746018-121746029, 121746045-121746046, 121746071-121746516, 121746531-121746538, 121746547-121746552, 121746581, 121746605-121746635, 121746657-121746663, 121746678-121746715, 121746797, 121746801, 121746830-121746847, 121746889, 121746969, 121746972-121746975, 121747005, 121747019, 121747032, 121747044-121747046, 121747050, 121747058-121747059, 121747168, 121747190, 121747242, 121747337-121747346, 121747379-121747385, 121747429, 121747461-121747465, 121747474, 121747480, 121747651-121747690, 121747696-121747702
698BIN120.96071829405163701782127808387-127808422, 127808488, 127808776, 127808790-127808791, 127808812, 127811583-127811588, 127816587-127816596, 127816632, 127828351, 127834211-127834213, 127864450-127864457
699PROC20.862914862914861901386128178898-128178899, 128178953-128178959, 128180493-128180502, 128180512-128180517, 128180610-128180747, 128180850-128180860, 128180881, 128180884-128180887, 128180898-128180901, 128180917-128180923
700CFC120.49255952380952341672131279058-131279076, 131279397, 131279621-131279627, 131279646, 131279650, 131279668, 131280363-131280477, 131280747-131280785, 131280792-131280832, 131280843, 131285285, 131285303-131285346, 131285374-131285443
701LCT20.998789764868675784136566527, 136567440, 136567450, 136590682, 136590689-136590691
702MCM620.9882400648824292466136616935-136616947, 136626364, 136633885-136633886, 136633889-136633899, 136633905, 136633909
703ZEB220.97997256515775733645145274845-145274917
704MMADHC20.997755331088662891150438664, 150438698
705NEB20.997646941023334719974152411472-152411482, 152417760, 152417763-152417764, 152432846-152432848, 152432863-152432868, 152497146-152497152, 152500439-152500446, 152512812, 152521314, 152584308-152584314
706CACNB420.96481126039667551563152698524-152698527, 152954867, 152955463-152955512
707SCN2A20.98969757394483626018166170441-166170454, 166170488-166170517, 166171981-166171982, 166171988-166171992, 166171999-166172002, 166172007, 166188052, 166210783, 166210786-166210789
708GALNT320.99263932702419141902166621496-166621497, 166621500, 166621503-166621511, 166621514-166621515
709SCN1A20.9994997498749435997166848400, 166848850, 166903297
710SCN9A20.999494438827135934167089955, 167141132-167141133
711SLC25A1220.99410898379971122037172750713-172750724
712ITGA620.944139194139191833276173292517-173292698, 173339813
713CHN120.98623188405797191380175869622-175869640
714HOXD1320.66569767441863451032176957619-176957921, 176957933, 176957942-176957949, 176957959-176957977, 176957983, 176957987, 176957990, 176958003, 176958013, 176958252-176958260
715AGPS20.97167425392008561977178257523-178257529, 178257570-178257580, 178257588-178257595, 178257604-178257609, 178257655-178257656, 178257661, 178257705-178257714, 178257727-178257728, 178257734, 178257737-178257742, 178257748, 178362475
716PRKRA20.9660297239915132942179315693, 179315703-179315710, 179315717-179315726, 179315732-179315740, 179315754-179315757
717DFNB5920.9962228517469341059179320842-179320845
718TTN20.99899249860346101100248179392322-179392365, 179392373-179392379, 179410768-179410771, 179414420-179414422, 179418361-179418362, 179418868, 179433952-179433955, 179466838-179466839, 179501284-179501291, 179578693-179578699, 179597760-179597761, 179629489, 179647735-179647737, 179647740, 179664294, 179664447-179664454, 179665141-179665143
719CERKL20.98248905565979281599182521530, 182521585, 182521588-182521605, 182521611, 182521615-182521621
720COL3A120.9918200408998364401189850412, 189850423, 189850444, 189850447-189850448, 189850453, 189854158, 189860449, 189860462-189860466, 189860860-189860864, 189860872-189860876, 189860893, 189867746, 189871127, 189871665-189871666, 189871670-189871675, 189871679, 189872267
721COL5A220.99688888888889144500189910591-189910596, 189933580, 189950487-189950493
722SLC40A120.9994172494172511716190428332
723PMS120.996784565916492799190656609-190656616, 190717493
724STAT120.97869507323569482253191859787-191859815, 191859873-191859874, 191859888-191859892, 191859900-191859905, 191873748-191873749, 191873752-191873755
725CASP1020.996813256851551569202050675-202050677, 202050679-202050680
726CASP820.98082869511441311617202149612, 202149615-202149617, 202149635-202149648, 202149651-202149652, 202149655-202149657, 202149665-202149668, 202149672-202149673, 202149726, 202149735
727ALS220.9989947728186654974202622403-202622406, 202626389
728BMPR220.9996791786974713117203242227
729NDUFS120.9995421245421212184207018366
730FASTKD220.9915611814346182133207652744-207652746, 207652752-207652759, 207652770-207652771, 207652776-207652778, 207652816, 207652819
731ACADL20.9961330239752551293211089911-211089915
732CPS120.9988896291361354503211455571, 211455574, 211455596-211455598
733ABCA1220.9931946584489537788215797420, 215809784, 215809823, 215812260, 215854117, 215854149-215854161, 215854165-215854166, 215854172, 215854175-215854181, 215854287-215854292, 215854300-215854305, 216002884-216002896
734SMARCAL120.99441535776614162865217297459, 217297464-217297467, 217297473-217297474, 217297478, 217315618, 217315621-217315622, 217347564-217347568
735PNKD20.9594127806563471158219204516-219204526, 219204529, 219204559, 219204563, 219204569-219204571, 219204592-219204621
736BCS1L20.9976190476190531260219526571-219526573
737CYP27A120.98558897243108231596219646920-219646923, 219646926, 219646945-219646956, 219646962-219646964, 219647042, 219647059, 219647105
738WNT10A20.779106858054232771254219745718-219745792, 219745814-219745819, 219754965-219754966, 219754972-219754973, 219757521-219757531, 219757545-219757557, 219757568-219757572, 219757577-219757578, 219757587, 219757606-219757607, 219757616, 219757620, 219757623, 219757638, 219757641, 219757658-219757693, 219757699, 219757702, 219757706-219757726, 219757731-219757742, 219757750-219757755, 219757761-219757802, 219757812-219757817, 219757830, 219757843-219757847, 219757857-219757861, 219757871, 219757887-219757890, 219757896-219757898, 219757902-219757904, 219757919, 219757922-219757926
739DES20.803963198867662771413220283185, 220283194-220283199, 220283222-220283288, 220283300, 220283305-220283307, 220283327-220283452, 220283460-220283465, 220283468, 220283510, 220283524, 220283532, 220283582-220283587, 220283592-220283612, 220283618, 220283623, 220283691-220283724
740OBSL120.7982779827798311485691220416256-220416259, 220416266-220416267, 220416277-220416281, 220416286-220416323, 220416326-220416333, 220416346-220416347, 220416350, 220416400-220416444, 220416452-220416501, 220416837-220416841, 220416863-220416875, 220416879, 220417266, 220417292-220417304, 220417307-220417331, 220417344, 220417355-220417361, 220417366-220417419, 220417613-220417615, 220417619-220417628, 220417634-220417651, 220417669, 220417720-220417743, 220420785, 220420885, 220420888-220420890, 220420893-220420895, 220420905, 220421221, 220421316-220421341, 220424082-220424083, 220431631, 220433016-220433017, 220434978-220435007, 220435062, 220435066, 220435069-220435071, 220435075, 220435084, 220435204-220435240, 220435246-220435270, 220435278-220435954
741PAX320.99143610013175131518223096854-223096864, 223161786-223161787
742COL4A420.99782780410742115064227906900, 227920719, 227920748, 227942694-227942695, 227942708, 227942712-227942715, 227983463
743COL4A320.977458607620191135013228029443-228029456, 228029462-228029523, 228137786-228137789, 228137805-228137806, 228137810, 228142250, 228148535, 228163410, 228163419-228163420, 228163425-228163427, 228163434-228163438, 228163476-228163492
744SLC19A320.99329309188464101491228563534, 228563694-228563696, 228563970-228563971, 228563980, 228563985-228563987
745CHRND20.97812097812098341554233390931-233390937, 233390942, 233390948-233390952, 233394651-233394660, 233394669-233394679
746CHRNG20.94723294723295821554233404462, 233404473, 233404476-233404495, 233405312-233405330, 233405387-233405398, 233405413, 233407646, 233409230-233409236, 233409241-233409244, 233409248, 233409258, 233409274-233409283, 233409588-233409590, 233409593
747SAG20.999178981937611218234243643
748UGT1A120.99001248439451161602234668951-234668954, 234668957-234668959, 234681010-234681018
749COL6A320.99601426473673389534238244864-238244866, 238244872-238244875, 238274536-238274539, 238277573, 238280449, 238280461-238280464, 238280738-238280744, 238283439, 238283446-238283447, 238285720, 238287556, 238303521-238303525, 238303537, 238303552-238303554
750AGXT20.98388464800679191179241808295-241808308, 241808397-241808401
751D2HGDH20.731162196679444211566242674640-242674652, 242674664-242674680, 242674700-242674792, 242674803, 242674809-242674818, 242674828-242674836, 242674839-242674840, 242674847-242674859, 242674862, 242674866-242674869, 242674904, 242689581-242689582, 242689591, 242689595-242689601, 242689677-242689697, 242695409, 242695412-242695418, 242707125-242707136, 242707145-242707146, 242707151, 242707161-242707329, 242707340, 242707343, 242707353-242707384
752C20orf54200.93900709219858861410741816-741817, 744357, 744375, 744513-744521, 745954, 745957-745980, 746305-746352
753IDH3B200.99913644214162111582641124
754AVP200.242424242424243754953063276-3063448, 3063623-3063824
755PANK2200.6818447168709954517133869755-3869792, 3869818, 3869821-3869825, 3869835-3869836, 3869844-3870055, 3870075-3870168, 3870183-3870375
756PRNP200.9986876640419917624680094
757FERMT1200.9960668633235820346077559-6077566
758JAG1200.9732020782061898365710639302, 10653370-10653375, 10653457, 10653548, 10653566-10653569, 10653602, 10653607, 10653653-10653654, 10654098-10654178
759C20orf7200.9884393063583812103813782209-13782213, 13782221-13782226, 13782272
760THBD200.70833333333333504172823028638-23028642, 23028660, 23028667-23028669, 23028702, 23028948, 23028970, 23029028-23029029, 23029032, 23029035-23029036, 23029039-23029042, 23029143, 23029165, 23029249, 23029267-23029271, 23029275-23029276, 23029283-23029285, 23029299-23029315, 23029325-23029329, 23029360-23029429, 23029451, 23029465, 23029488-23029788, 23029815-23029816, 23029822-23029824, 23029827-23029828, 23029849-23029852, 23029884-23029894, 23029897-23029900, 23029940, 23029996, 23030043-23030085, 23030098-23030100, 23030103
761SNTA1200.80171277997365301151832000149-32000156, 32000219, 32000222, 32005607, 32005610, 32031123, 32031139-32031426
762GDF5200.953519256308170150634021801-34021804, 34022387, 34022392-34022394, 34025107-34025137, 34025148-34025173, 34025366, 34025579, 34025621-34025623
763SAMHD1200.9489633173843796188135579843-35579868, 35579877-35579884, 35579890, 35579894-35579904, 35579923-35579972
764HNF4A200.999298245614041142543030013
765ADA200.9239926739926783109243249666-43249668, 43251264-43251292, 43251673-43251686, 43254294-43254296, 43255166, 43280216-43280248
766CTSA200.975283901135637149744520229-44520259, 44520284, 44520328, 44520331-44520332, 44520336, 44520339
767CD40200.99040767386091883444751285-44751288, 44751306-44751308, 44757586
768SLC2A10200.995079950799518162645338376-45338379, 45353776, 45354159-45354160, 45354694
769SALL4200.9879822896900738316250406617-50406620, 50406985, 50407102, 50408024, 50408321, 50408324, 50408336-50408340, 50408345-50408348, 50418818-50418826, 50418829-50418834, 50418840-50418841, 50418882, 50418920, 50418933
770PCK1200.999464954521131186956136533
771VAPB200.913934426229516373256964516-56964573, 57014077-57014081
772STX16200.988752556237221197857244383, 57244386-57244393, 57244404, 57244441
773GNAS200.884823848238488573857415196-57415197, 57415233-57415267, 57415274, 57415354-57415389, 57415575, 57415580-57415581, 57415584, 57415695, 57415698-57415700, 57415706-57415708
774GNAS200.81727681438664569311457428918, 57428924-57428928, 57429079-57429120, 57429133-57429153, 57429217, 57429411-57429414, 57429463-57429464, 57429477, 57429481-57429483, 57429487, 57429496-57429515, 57429531, 57429557-57429561, 57429587-57429607, 57429613-57429614, 57429618-57429623, 57429636-57429696, 57429722-57429774, 57429786-57429889, 57429905, 57429919-57430010, 57430038, 57430053-57430060, 57430063, 57430076-57430120, 57430134, 57430155-57430163, 57430168-57430174, 57430187-57430191, 57430277-57430313, 57430375-57430382
775EDN3200.99302649930265571757876637-57876640, 57876643
776COL9A3200.89586374695864214205561448417-61448494, 61448919-61448987, 61452542-61452552, 61455830-61455837, 61456334-61456373, 61457198-61457201, 61457607, 61467284, 61468502, 61472022
777CHRNA4200.88747346072187212188461978100, 61981104, 61981172, 61981178, 61981236-61981237, 61981240-61981251, 61981259-61981261, 61981364, 61981448-61981450, 61981532, 61981536, 61981554, 61981563, 61981590, 61981593, 61981613-61981617, 61981643-61981682, 61981718-61981749, 61981872-61981873, 61981918-61981920, 61981931-61981933, 61981944-61981947, 61981971, 61982237, 61982250, 61987723-61987732, 61987755-61987756, 61991029, 61992442-61992517
778KCNQ2200.79381443298969540261962038022, 62038054, 62038068-62038069, 62038150, 62038153, 62038264-62038269, 62038277, 62038285, 62038290-62038293, 62038339-62038384, 62038406-62038442, 62038493-62038505, 62038542-62038582, 62038627-62038658, 62038703, 62039820, 62039827, 62044892, 62046386, 62046394, 62046400, 62046404-62046409, 62046437-62046438, 62051012, 62059745, 62059749, 62059753, 62059758-62059759, 62059762, 62059769-62059771, 62059776, 62076654-62076660, 62078108-62078131, 62103521-62103816
779SOX18200.116883116883121020115562679519-62679538, 62679585, 62679628-62679635, 62679640-62679644, 62679665, 62679668-62679669, 62679677-62679685, 62679694-62679698, 62679705-62680315, 62680512-62680869
780APP210.974924340683158231327484425, 27542882-27542938
781BACH1210.9923111714156517221130714896, 30715022-30715030, 30715043, 30715069-30715073, 30715078
782SOD1210.956989247311832046533032110-33032129
783IFNGR2210.9280078895463573101434775850-34775922
784RCAN1210.6679841897233225275935987059-35987310
785RUNX1210.87456687456687181144336164432-36164476, 36164503-36164524, 36164557, 36164560, 36164594, 36164597-36164605, 36164697-36164698, 36164704, 36164712, 36164772, 36259186, 36259231, 36259246-36259252, 36259288-36259309, 36259322-36259355, 36259362-36259393
786CLDN14210.99027777777778772037833987-37833993
787HLCS210.999541494727191218138309509
788TMPRSS3210.994871794871797136543809142-43809148
789CBS210.99577294685997165644483181-44483184, 44486400-44486402
790CSTB210.777777777777786629745196085-45196150
791AIRE210.76862026862027379163845705890-45706021, 45706501, 45706967-45706969, 45708336, 45709545, 45709906, 45709908-45709910, 45709913-45709914, 45709918, 45712192, 45712881-45712948, 45712966-45712996, 45713003-45713025, 45713040-45713058, 45713729, 45713766-45713793, 45714287-45714304, 45714323, 45714328, 45714332-45714336, 45714339-45714351, 45714356-45714357, 45714361, 45714364, 45714367-45714386, 45716287
792ITGB2210.90692640692641215231046308608-46308810, 46309398-46309400, 46309403-46309408, 46323440, 46330640-46330641
793COL18A1210.87920227920228636526546875472-46875476, 46875485-46875491, 46875495-46875501, 46875518, 46875591, 46875862-46875863, 46876045-46876051, 46876244-46876250, 46876310-46876316, 46876373, 46876398-46876400, 46876412-46876414, 46876446-46876448, 46876458, 46876471-46876508, 46876529-46876565, 46876571, 46876586, 46876608, 46876666-46876673, 46876676, 46876704, 46876711, 46876715, 46876718, 46876722-46876723, 46888159, 46888210-46888240, 46888248-46888251, 46888417, 46888441, 46888503, 46888533-46888537, 46888584-46888590, 46888649-46888655, 46899859-46899860, 46900670, 46900716-46900720, 46900727, 46900730-46900735, 46906784-46906817, 46906828, 46906831-46906833, 46906847-46906849, 46906853-46906858, 46906864-46906865, 46906874-46906877, 46906885, 46910251-46910252, 46911179-46911189, 46911196-46911228, 46913089, 46913092-46913094, 46913101, 46915275, 46923949, 46923955, 46924384, 46924393, 46924426-46924437, 46925086-46925134, 46925294-46925314, 46925331-46925334, 46925794-46925795, 46925806-46925810, 46929270-46929287, 46929304-46929305, 46929313, 46929335-46929348, 46929353, 46929359-46929364, 46929370, 46929372, 46929392, 46929397-46929399, 46929445-46929491, 46929989, 46930035-46930069, 46930094, 46930113-46930175, 46931059-46931064, 46931075-46931080, 46931125, 46932198-46932201
794COL6A1210.89925494007127311308747401765-47401814, 47401846, 47407530, 47407541, 47407545, 47410172-47410198, 47410310-47410317, 47410324, 47410328-47410331, 47410699, 47412277-47412283, 47418843-47418844, 47418863, 47419106, 47419110-47419113, 47419125-47419132, 47419572-47419573, 47419580-47419606, 47420253-47420258, 47420673-47420681, 47421171-47421172, 47421249-47421267, 47421918, 47422172, 47422181-47422184, 47422193-47422197, 47422304-47422315, 47422514-47422517, 47422530, 47422537-47422539, 47423331-47423349, 47423360, 47423399-47423408, 47423416, 47423431-47423436, 47423442, 47423445, 47423453-47423462, 47423484-47423513, 47423627-47423642, 47423734, 47423810
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1001CFB60.999473822678242380131895785, 31895791
1002TNXB60.87869362363919234192931976407, 31976899, 31976916, 31976926, 31977388-31977394, 31977525-31977555, 31977835-31977841, 31977994-31978001, 31978080, 31978498-31978517, 31978780-31978815, 31979046-31979052, 31979382-31979427, 31979439-31979482, 31979626-31979639, 31979963, 31980000, 31980130-31980136
1003CYP21A260.92204301075269116148832006209, 32006216-32006222, 32006235-32006237, 32006250, 32006276, 32006317, 32006337, 32006886, 32006948, 32006954-32006955, 32006964, 32006967-32006968, 32007846-32007852, 32008195-32008201, 32008293-32008299, 32008676, 32008686-32008739, 32008751, 32008760, 32008766, 32008815-32008829
1004TNXB60.967868646397994091272932009126, 32009631-32009664, 32010123-32010129, 32010269-32010278, 32010569-32010575, 32010728-32010735, 32010814, 32011219, 32011235, 32011248, 32011644, 32012216, 32012238-32012281, 32012292-32012336, 32012483, 32012490, 32012814-32012820, 32012984-32012990, 32013048, 32018034, 32021293-32021299, 32023757, 32024557-32024563, 32032630, 32032633, 32047095, 32056705-32056711, 32063554-32063560, 32063746-32063771, 32063955-32063958, 32064098, 32064113-32064117, 32064127-32064130, 32064141-32064149, 32064159-32064167, 32064233-32064278, 32064284-32064307, 32064320-32064322, 32064333, 32064382-32064414, 32064559-32064590
1005HLA-DQA160.8541666666666711276832609147, 32609192, 32609195, 32609204-32609209, 32609212-32609217, 32609220-32609246, 32609249, 32609264, 32609271, 32609286, 32609312, 32609949-32609977, 32609998-32610012, 32610387-32610406, 32610535
1006HLA-DQB160.5712468193384233778632628022, 32629124-32629173, 32629224-32629234, 32629761, 32629764, 32629809, 32629844-32629908, 32629932-32629958, 32632575-32632598, 32632604-32632647, 32632667-32632669, 32632689-32632692, 32632696-32632704, 32632719-32632729, 32632734-32632794, 32634279-32634291, 32634300-32634308, 32634341, 32634350
1007COL11A260.95624640184226228521133132635, 33132640-33132641, 33135204, 33135276-33135282, 33138120-33138156, 33138347, 33139548, 33139555, 33140066, 33140103-33140148, 33140317-33140325, 33140335-33140378, 33140390-33140404, 33140407-33140414, 33140870, 33141679, 33141696-33141697, 33145943, 33153497-33153532, 33159961-33159964, 33159999-33160000, 33160011-33160017
1008SYNGAP160.88095238095238480403233388042-33388108, 33393575-33393680, 33399970-33399971, 33399982-33399988, 33399994, 33405797, 33405803-33405808, 33405811-33405812, 33410896-33410897, 33410921, 33410925-33410930, 33410962-33410969, 33410975, 33410986, 33411135, 33411139, 33411159-33411185, 33411191-33411192, 33411312, 33411378, 33411460-33411461, 33411468-33411470, 33411484-33411698, 33411720-33411722, 33419560, 33419611-33419621, 33419628
1009RPS1060.9859437751004749834392952-34392958
1010FANCE60.91185599006828142161135420323-35420415, 35420418-35420421, 35420424, 35420439, 35420467-35420470, 35420475-35420477, 35420481-35420487, 35420496-35420498, 35420528-35420532, 35420542-35420546, 35420555, 35420559-35420560, 35423662, 35423747-35423753, 35426129-35426132, 35426135
1011TULP160.9668508287292854162935473901, 35479550, 35479566-35479569, 35479574-35479583, 35479957-35479958, 35479961-35479965, 35479972-35479974, 35479982-35479985, 35480003, 35480006-35480016, 35480429-35480440
1012LHFPL560.98787878787879866035773448-35773454, 35773725
1013MOCS160.995290423861859191139874268, 39874329, 39893551-39893552, 39893555-39893558, 39893572
1014GUCA1A60.99174917491749560642147128-42147132
1015PRPH260.995196926032665104142666044, 42666054, 42672171-42672173
1016PEX660.91267414203194257294342936652-42936653, 42936669-42936673, 42946075-42946076, 42946107, 42946372-42946410, 42946416-42946453, 42946460, 42946464-42946472, 42946483-42946490, 42946520, 42946523-42946524, 42946527-42946529, 42946549-42946558, 42946587-42946681, 42946700-42946712, 42946715-42946738, 42946745-42946747, 42946763
1017CUL760.994114184814630509743006361, 43008323, 43008335-43008349, 43008358, 43015952-43015963
1018RSPH960.8411552346570413283143612850, 43612853-43612862, 43612865, 43612870, 43612885-43612891, 43612896-43612897, 43612900, 43612909-43612928, 43612930-43612932, 43612939-43612942, 43612947-43612949, 43612955-43612957, 43612966-43612976, 43612985-43613024, 43613038-43613062
1019RUNX260.86015325670498219156645390330-45390537, 45390554, 45390641-45390649, 45515005
1020CD2AP60.9916666666666716192047576957-47576972
1021MUT60.9778073679538450225349403299, 49403302, 49419354-49419385, 49419413, 49427147-49427161
1022PKHD160.99820040899796221222551484090-51484096, 51497435, 51890818-51890824, 51890829, 51892964-51892966, 51923368, 51923372, 51924803
1023EYS60.999258081611027943565523274, 65523334, 65523352, 66205242-66205245
1024LMBRD160.998151571164513162370506735, 70506754, 70506773
1025COL9A160.997830802603046276670926637-70926639, 70972958, 70981390, 70990710
1026RIMS160.94762748572554266507972596743-72596745, 72596759, 72596763, 72889516-72889518, 72892053, 72892060-72892064, 72892069, 72892196, 72892280-72892282, 72892292-72892298, 72892300-72892306, 72892309-72892310, 72892325-72892417, 72892425-72892456, 72892470-72892493, 72892514-72892531, 72892546-72892550, 72892571-72892579, 72892601-72892604, 72892608, 72892613-72892616, 72892621-72892622, 72892657-72892659, 72892662-72892664, 72892672, 72892688-72892692, 72892697-72892704, 72892841, 72945424-72945425, 73001668, 73001672-73001677, 73001691-73001695, 73001701-73001703, 73108751
1027SLC17A560.9368279569892594148874363516-74363609
1028ELOVL460.986243386243391394580656904-80656915, 80656929
1029BCKDHB60.9872773536895715117980982886-80982900
1030SLC35A160.991124260355039101488182722-88182723, 88182732-88182737, 88210378
1031RARS260.995394358088668173788299661-88299668
1032NDUFAF460.977272727272731252897339096, 97339100-97339110
1033SIM160.998696219035232301100897508, 100897511-100897512
1034PDSS260.98333333333333201200107780266-107780275, 107780285-107780293, 107780297
1035SEC6360.947437582128781202283108279090-108279209
1036OSTM160.789054726368162121005108395525-108395564, 108395587-108395649, 108395735-108395762, 108395771-108395851
1037COL10A160.98384728340675332043116441296-116441299, 116441746-116441747, 116442333, 116442344-116442345, 116442363-116442365, 116442388-116442392, 116442464, 116442799, 116443066-116443079
1038RSPH4A60.9958158995815992151116938372, 116938375, 116938384, 116938394-116938399
1039LAMA260.99765032575029229363129204463-129204466, 129475770, 129635875, 129635937, 129670480-129670481, 129670485-129670493, 129670505, 129670511, 129674408, 129674411
1040ENPP160.926565874730022042778132129176-132129284, 132129299, 132129302, 132129339, 132129348-132129352, 132129364-132129370, 132129374, 132129379, 132168916-132168917, 132203485-132203525, 132203558-132203566, 132203570-132203571, 132203587-132203610
1041EYA460.99322916666667131920133769267-133769276, 133769287, 133769293, 133769296
1042AHI160.9963798384851133591135754379-135754391
1043PEX760.89300411522634104972137143830-137143933
1044PLAGL160.998563218390821392144262671, 144262694
1045STX1160.9687527864144507787, 144507793, 144507808, 144507811, 144507814, 144507925, 144507929-144507931, 144507946, 144508374, 144508398, 144508419-144508423, 144508491, 144508585-144508590, 144508601-144508603
1046EPM2A60.69779116465863301996146056334-146056634
1047IYD60.9022988505747185870150719231-150719274, 150719280-150719320
1048SYNE160.9945821019928814326394152454465, 152457820-152457832, 152461124-152461170, 152464857, 152527398, 152527412, 152545722-152545732, 152545743-152545746, 152545765-152545767, 152545773, 152545788-152545790, 152553314, 152553355-152553361, 152576872-152576879, 152599282, 152603073-152603080, 152614744, 152615241, 152644681, 152644685, 152644691, 152644707, 152644714, 152646294-152646296, 152650899-152650900, 152665297, 152694281, 152702390, 152702440, 152720872, 152722285-152722288, 152819877-152819887
1049PARK260.97210300429185391398161771216, 161771219, 161969948-161969949, 161969959-161969973, 162683625, 162683645-162683656, 163148694-163148700
1050TBP60.91666666666667851020170870879-170870885, 170871025-170871034, 170871038-170871072, 170871076, 170871078-170871082, 170871085-170871091, 170871094-170871095, 170871098-170871110, 170871126, 170876014-170876016, 170876064
1051LFNG70.6228070175438643011402559496-2559903, 2564869, 2565060, 2565091, 2565095, 2565102-2565105, 2565114, 2565999-2566004, 2566014, 2566025-2566030
1052PMS270.994592506759371425896029454, 6045523-6045535
1053TWIST170.3103448275862142060919156431-19156436, 19156439, 19156442-19156444, 19156524-19156538, 19156550-19156944
1054DNAH1170.99580017683466571357221582903, 21582941, 21582984, 21582998, 21583005, 21583034-21583041, 21583044, 21583056, 21583186-21583214, 21630920-21630930, 21630935, 21678582
1055DFNA570.9879275653923518149124742425-24742442
1056HOXA170.9513888888888949100827135293, 27135306, 27135314, 27135317-27135319, 27135374-27135415, 27135469
1057HOXA1370.48843187660668597116727238859-27238865, 27238983, 27239068-27239125, 27239143-27239178, 27239192-27239209, 27239220-27239696
1058GARS70.9824324324324339222030634570, 30634574-30634576, 30634583-30634585, 30634670, 30634677-30634689, 30634697-30634702, 30634710-30634719, 30634725, 30634756
1059GHRHR70.99371069182398127231008678-31008682, 31008685, 31008702, 31009537
1060RP970.7717717717717715266633148833-33148984
1061BBS970.999624624624621266433545222
1062TXNDC370.999434069043581176737901737
1063GLI370.89647902171621491474342004657, 42004714, 42004721-42004727, 42004842, 42004905, 42004914, 42005112-42005123, 42005142-42005144, 42005152-42005157, 42005211-42005217, 42005222-42005227, 42005230, 42005234-42005235, 42005238-42005243, 42005248-42005257, 42005267-42005299, 42005316-42005320, 42005323, 42005489, 42005506, 42005514, 42005532-42005544, 42005551-42005559, 42005562, 42005572-42005599, 42005614-42005756, 42005814-42005815, 42005844-42005850, 42005857-42005881, 42005894, 42005905, 42005914, 42005924-42005965, 42005980, 42005991-42006040, 42006046-42006068, 42006074-42006100, 42064958, 42065800, 42079683-42079689, 42085063
1064GCK70.9757316202712334140144184870, 44185263-44185283, 44186066-44186069, 44186079, 44186084, 44186102, 44186123, 44193044, 44193060-44193062
1065CCM270.9408239700374579133545039933-45039962, 45077983-45077985, 45113092-45113134, 45113905, 45115378, 45115427
1066DDC70.993762993762999144350597003-50597009, 50597018-50597019
1067GRB1070.998879551820732178550682488, 50685792
1068EGFR70.97082301128544106363355086971-55087058, 55220287-55220288, 55220292-55220298, 55220308, 55273051, 55273055-55273061
1069GUSB70.9790388548057341195665432835-65432841, 65440043, 65445281, 65445289, 65446986-65447013, 65447110-65447112
1070ASL70.9397849462365684139565551764-65551767, 65553882-65553900, 65553903, 65554078-65554079, 65554140-65554142, 65554149, 65554156-65554160, 65554266-65554311, 65554321-65554322, 65554658
1071KCTD770.8333333333333314587066094052-66094195, 66104006
1072NCF170.947878787878794382572639983-72639989, 72640033-72640039, 72643704-72643710, 72648707, 72648730-72648750
1073ELN70.9793103448275945217573442518-73442543, 73442549, 73442563, 73442575, 73456957, 73456963-73456965, 73457019, 73466266-73466272, 73466279, 73466282-73466283, 73474825
1074NCF170.82267689684569208117374193642, 74193668, 74202387, 74202410-74202432, 74202903-74202956, 74202962-74203048, 74203402-74203424, 74203454-74203471
1075POR70.91581008321096172204375610449, 75610454-75610460, 75610467, 75614179-75614218, 75614224-75614276, 75614429-75614481, 75614484, 75614500-75614507, 75614520-75614525, 75614925, 75614953
1076HSPB170.8236245954692610961875932036, 75932062-75932096, 75932180-75932184, 75932190-75932194, 75932208-75932210, 75932218, 75932235-75932240, 75932250-75932260, 75932268-75932273, 75932283-75932297, 75932299-75932300, 75932303-75932310, 75932339, 75932357, 75933174-75933182
1077HGF70.995884773662559218781399253, 81399280-81399287
1078ABCB470.999739583333331384087031482
1079AKAP970.99812350733538221172491609633, 91609641-91609647, 91631299, 91631364, 91660907-91660908, 91714837, 91714911, 91726327-91726333, 91727487
1080KRIT170.9895974672094123221191843931-91843946, 91852257-91852263
1081PEX170.9854620976116356385292157641-92157687, 92157702-92157710
1082COL1A270.9761033894172298410194030912-94030914, 94033911-94033912, 94038091, 94047059-94047061, 94047065, 94047068, 94047083-94047087, 94047092, 94049547-94049565, 94049568-94049571, 94049906-94049937, 94049947-94049960, 94052290, 94052380, 94056500-94056508, 94056941
1083SGCE70.9926253687315610135694252653, 94252660, 94285323, 94285326, 94285372, 94285386-94285390
1084SLC25A1370.9793205317577542203195750972-95750991, 95751295-95751309, 95799365-95799366, 95906580, 95951254-95951257
1085TFR270.96425602660017862406100218650-100218654, 100218659, 100224426-100224427, 100224444, 100224501, 100224510-100224522, 100224957, 100224975, 100225016-100225022, 100225031, 100225113-100225114, 100225398, 100228595, 100228633, 100230651-100230652, 100230715-100230722, 100230883-100230885, 100231047-100231053, 100231078-100231079, 100231093, 100231101-100231107, 100238630-100238634, 100238636, 100238640, 100238644, 100238656-100238662, 100238664, 100238667, 100238712
1086SERPINE170.98759305210918151209100771820-100771833, 100771844
1087SLC26A570.9964205816554882235103020949-103020956
1088RELN70.997398091934092710377103191605-103191615, 103191669, 103230098-103230104, 103230237, 103234887, 103244904, 103244908, 103629800-103629803
1089SLC26A470.97524541186513582343107302098, 107302105, 107302115, 107302192-107302202, 107323647-107323658, 107323919-107323950
1090SLC26A370.99302832244009162295107414419, 107423452-107423453, 107432358-107432370
1091IFRD170.95575221238938601356112090790-112090797, 112090811-112090813, 112090820-112090826, 112090829-112090830, 112090835-112090837, 112102060, 112102108-112102110, 112102134-112102137, 112102151, 112102156-112102159, 112102164, 112102171-112102180, 112102187-112102199
1092CFTR70.97299122214721204443117188713-117188753, 117188760-117188800, 117188847-117188853, 117235064-117235094
1093AASS70.9996404171161512781121755188
1094IMPDH170.857777777777782561800128035060-128035062, 128035070-128035073, 128035297, 128035303, 128035306, 128036746, 128045821-128045919, 128049810-128049955
1095FLNC70.96563952066522818178128470692-128470736, 128470748, 128470753, 128470765, 128470769, 128470781, 128470818-128470850, 128470867-128470910, 128470936-128470964, 128470987-128470990, 128470993-128471008, 128471015-128471026, 128477279-128477308, 128477742, 128481244-128481246, 128482632, 128482641, 128482663, 128487908, 128487911, 128488669, 128489245, 128489248, 128489392-128489395, 128494159-128494201, 128494596-128494598, 128498080
1096ATP6V0A470.99048751486326242523138394404, 138394417, 138394420, 138394454-138394457, 138394487, 138394491, 138394499-138394511, 138437384, 138437441
1097BRAF70.96523250760539802301140624367, 140624400-140624443, 140624461-140624473, 140624482-140624503
1098PRSS170.79569892473118152744142458409-142458454, 142459676-142459682, 142459826-142459827, 142459831, 142459835-142459837, 142459863-142459878, 142460313, 142460335, 142460339, 142460366-142460397, 142460741-142460782
1099CLCN170.99359622514324192967143013458, 143013461, 143013469, 143013472, 143018901-143018904, 143020412, 143042697-143042699, 143043325-143043326, 143047485, 143047489-143047492
1100CNTNAP270.97922922922923833996145813977-145814029, 147092862-147092868, 147815244-147815265, 147914506
1101KCNH270.663218390804611723480150644099, 150644102, 150644426-150644436, 150644443, 150644446, 150644452, 150644460-150644480, 150644489-150644494, 150644540-150644602, 150644694-150644853, 150644880-150644896, 150644905-150644945, 150645532-150645537, 150645544, 150645553, 150645564-150645574, 150645582-150645596, 150645601, 150645605, 150646074, 150647478, 150648572-150648587, 150648672, 150648690, 150648707, 150648856, 150648863-150648866, 150648875-150648891, 150648903-150648907, 150648910-150648913, 150648922-150648923, 150649775-150649777, 150654429, 150654451, 150654454, 150654532-150654534, 150655147-150655588, 150671799-150672029, 150674926-150675001
1102PRKAG270.94795321637427891710151329155-151329224, 151478307-151478325
1103SHH70.58459323254145771389155595594-155596110, 155596140-155596146, 155596149, 155596154-155596165, 155596182-155596220, 155596234
1104MNX170.233830845771149241206156798214-156798508, 156799251-156799291, 156799297, 156802384-156802415, 156802434-156802478, 156802493-156802499, 156802516-156802547, 156802558, 156802562, 156802565-156802566, 156802578-156803044
1105CLN880.97096399535424258611719514, 1728546-1728556, 1728682-1728694
1106MCPH180.991626794258372125086264191-6264210, 6478981
1107GATA480.58690744920993549132911565822-11565838, 11565840-11565849, 11565858-11565869, 11565877-11565925, 11565963-11565974, 11565985-11566378, 11566395-11566437, 11612555-11612566
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1109ASAH180.994949494949496118817924731-17924732, 17927327, 17941521-17941522, 17941526
1110LPL80.9810924369747927142819810858-19810884
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1114ESCO280.9778516057585840180627634192-27634205, 27634452-27634477
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1120RP180.9967547519703321647155533909, 55534701, 55542007-55542012, 55542328-55542340
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1122TTPA80.7562724014336920483763998377-63998580
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1124EYA180.996065205171447177972211341-72211345, 72211355, 72211358
1125TMEM7080.937420178799494978374888517-74888556, 74888642, 74888647, 74888650, 74888664, 74888674-74888675, 74888689-74888690, 74888693
1126CA280.956577266922093478386376311-86376344
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1131DPYS80.848076923076922371560105478885-105479117, 105479133-105479134, 105479141, 105479146
1132TRPS180.998970398970443885116426562-116426565
1133EXT180.9995537706381112241118819555
1134TNFRSF11B80.9925373134328491206119938823, 119941113-119941116, 119964040-119964042, 119964057
1135KIAA019680.99597701149425143480126079909, 126088624-126088636
1136KCNQ380.90492554410082492619133492445-133492446, 133492449, 133492517-133492548, 133492557-133492651, 133492661-133492779
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1139SLURP180.987179487179494312143822600-143822602, 143822614
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1143GPT80.744466800804833811491145730629-145730668, 145730707-145730749, 145730796-145730798, 145730871-145730872, 145731239-145731252, 145731278-145731284, 145731289, 145731292-145731310, 145731386-145731391, 145731450, 145731452-145731455, 145731466-145731471, 145731481-145731486, 145731490-145731495, 145731506-145731509, 145731615-145731632, 145731668-145731674, 145731690-145731699, 145731707-145731709, 145731720-145731745, 145731754-145731758, 145731765, 145731776-145731780, 145731783-145731789, 145731884-145731941, 145731955-145731979, 145731992-145732039, 145732153-145732156, 145732305, 145732334
1144RECQL480.890543148607663973627145737069, 145737373-145737376, 145737381, 145737402, 145737816, 145737918, 145738230-145738234, 145738280, 145738404-145738432, 145738441, 145738444, 145738518-145738521, 145738601, 145738631-145738632, 145738662-145738701, 145738724, 145738747-145738753, 145738768, 145738770-145738772, 145738778-145738783, 145738792-145738830, 145738955-145738961, 145738969-145738988, 145738996-145739004, 145739008-145739009, 145739038, 145739080, 145739083-145739085, 145739451, 145740446-145740447, 145741550-145741558, 145741625-145741645, 145741702, 145741780-145741782, 145741805, 145741898-145741900, 145741904, 145741909-145741917, 145742468-145742469, 145742514, 145742523-145742524, 145742799-145742803, 145742806-145742807, 145742826, 145742833-145742848, 145742874, 145742877-145742879, 145742891-145742892, 145742986-145743019, 145743085-145743168
1145DOCK890.981269841269841186300214977-215029, 371522-371536, 382565, 382576, 382581, 407007-407027, 446586, 446590, 452027-452043, 452063, 452066-452071
1146VLDLR90.968726163234178226222622190-2622271
1147KCNV290.8937728937728917416382717968-2717975, 2717982-2718028, 2718054, 2718065, 2718086, 2718308-2718311, 2718319-2718328, 2718344-2718347, 2718389-2718397, 2718405-2718407, 2718414-2718416, 2718428, 2718442-2718446, 2718451-2718454, 2718460, 2718467-2718470, 2718511-2718528, 2718551-2718556, 2718567, 2718578, 2718646, 2718663-2718667, 2718730-2718731, 2718737-2718739, 2718749, 2718752-2718756, 2718940, 2718949-2718958, 2718963-2718974, 2718983, 2718992
1148GLIS390.8879341210168331327934117768-4117770, 4117813-4117814, 4117822, 4117851-4117859, 4117928, 4117945, 4117965, 4117970, 4118003-4118031, 4118051-4118054, 4118060-4118070, 4118091-4118097, 4118100-4118134, 4118139-4118144, 4118171-4118177, 4118185-4118208, 4118217-4118283, 4118291-4118331, 4118340-4118341, 4118344, 4118353, 4118356-4118358, 4118362, 4118375, 4118399-4118441, 4118492, 4118764, 4118769-4118770, 4286307-4286313
1149SLC1A190.956190476190486915754490730-4490736, 4490744-4490770, 4566056-4566089, 4583139
1150JAK290.988526037069733933995066757-5066758, 5066768, 5069942, 5077492, 5077496, 5077500, 5077503-5077517, 5077565-5077577, 5080321, 5089819-5089820, 5090851
1151GLDC90.9324191968658220730636553426, 6587155-6587156, 6589283, 6610193-6610196, 6610217-6610221, 6645306-6645499
1152TYRP190.996282527881046161412694337-12694342
1153CDKN2A90.7579617834394911447121971032-21971033, 21971040-21971047, 21971051-21971053, 21971056-21971059, 21971113, 21971162-21971176, 21971184, 21971187-21971188, 21974710-21974711, 21974735-21974774, 21974785-21974820
1154CDKN2A90.7835249042145611352221971032-21971033, 21971040-21971047, 21971051-21971053, 21971056-21971059, 21971113, 21971162-21971176, 21971184, 21971187-21971188, 21994154, 21994205-21994214, 21994217, 21994223-21994224, 21994311-21994314, 21994337-21994375, 21994386-21994395, 21994418-21994427
1155TOPORS90.9910771191841928313832550785-32550796, 32550805-32550809, 32550815-32550818, 32550885, 32550888, 32550893, 32550920-32550922, 32550953
1156APTX90.9679300291545233102932973511-32973515, 32973518, 32973527-32973549, 32973556-32973559
1157B4GALT190.9348370927318378119733166814-33166820, 33166889-33166894, 33166909-33166910, 33166915-33166918, 33166981-33166985, 33167032, 33167037, 33167041-33167044, 33167052, 33167057, 33167078, 33167082, 33167097-33167111, 33167118-33167125, 33167138, 33167148-33167167
1158DNAI190.997619047619055210034506625-34506629
1159GALT90.996491228070184114034646741, 34646745, 34646756, 34647207
1160VCP90.9929781082197417242135072334-35072350
1161FANCG90.99839486356343186935077082, 35078299, 35078316
1162NPR290.9707379134860192314435792410-35792426, 35792455-35792457, 35792469, 35792507, 35792539-35792542, 35792545, 35792551-35792555, 35792646-35792651, 35792693-35792724, 35792749-35792770
1163GRHPR90.99696048632219398737422815, 37422823, 37424860
1164FXN90.7377567140600316663371650699-71650863, 71668104
1165TRPM690.998681825671458606977390875, 77390902, 77403619-77403622, 77415321-77415322
1166VPS13A90.9976902887139122952579820229-79820233, 79841389-79841391, 79841402, 79896800, 79928912, 79930340-79930342, 79931134, 79931189, 79932591, 80030910-80030914
1167AUH90.9411764705882460102094123979, 94124032-94124037, 94124046, 94124094-94124125, 94124132-94124137, 94124139, 94124148, 94124155, 94124161-94124171
1168ROR290.90748587570621262283294486321, 94486809, 94487066, 94495404-94495437, 94495447-94495456, 94495461-94495466, 94495475-94495481, 94495487-94495506, 94495518-94495549, 94495564-94495587, 94495594-94495627, 94495658, 94495665, 94495682, 94712157-94712245
1169SPTLC190.99718706047824142294877644-94877647
1170FBP190.9754178957718825101797401439-97401446, 97401540-97401556
1171FANCC90.9916517590936214167797897771-97897784
1172PTCH190.92219152854512338434498211530, 98220383, 98220386, 98231333-98231345, 98239955, 98268689-98268776, 98268805-98268807, 98268818-98268870, 98270467-98270643
1173XPA90.99635036496353822100459447-100459449
1174FOXE190.116755793226389911122100616197-100617147, 100617164-100617188, 100617217, 100617238, 100617269-100617281
1175TGFBR190.93584656084656971512101867488-101867584
1176ALG290.94164668265388731251101983913-101983929, 101983940-101983941, 101983950-101983956, 101984051, 101984064, 101984090, 101984093-101984097, 101984130-101984135, 101984144-101984176
1177INVS90.99562226391495143198102992096-102992104, 102992107-102992108, 103046746-103046748
1178ALDOB90.997260273972631095104187211, 104189770-104189771
1179ABCA190.9997052755673426786107576481-107576482
1180IKBKAP90.9992498124531133999111640293, 111640303, 111656326
1181MUSK90.9996168582375512610113547930
1182ALAD90.998992950654581993116153900
1183DFNB3190.896108663729812832724117185705, 117186729, 117186779, 117240865, 117240868, 117266680, 117266684-117266685, 117266690, 117266700, 117266770, 117266773-117266774, 117266786, 117266813-117267081
1184CDK5RAP290.99630411826822215682123156871-123156884, 123171428, 123171431, 123249662, 123342211, 123342226, 123342255-123342256
1185GSN90.96764580672627762349124062151-124062179, 124062189-124062199, 124062205, 124062218-124062237, 124062243-124062248, 124062256-124062258, 124062261-124062264, 124062273, 124062276
1186NR5A190.748196248196253491386127245156-127245190, 127253491-127253493, 127253505-127253507, 127255325, 127255398, 127255405-127255407, 127255412-127255414, 127255422, 127262437, 127262458-127262463, 127262506, 127262537, 127262586-127262616, 127262688-127262705, 127262742, 127262760-127262762, 127262768-127262769, 127262793, 127262810, 127262841-127262843, 127262868-127262870, 127265358-127265401, 127265408-127265499, 127265573-127265663
1187LMX1B90.681858802502233561119129376833-129376867, 129377662-129377848, 129453127-129453128, 129453334-129453347, 129455525, 129455548, 129455587, 129455820, 129455859-129455864, 129456025-129456026, 129456031, 129456034-129456041, 129456045, 129456059-129456060, 129456071-129456091, 129458118-129458119, 129458157-129458184, 129458187-129458196, 129458210, 129458214-129458245
1188STXBP190.97516556291391451812130374683-130374719, 130415994-130415998, 130416009-130416010, 130422365
1189ENG90.9711684370258571977130578250, 130587553-130587563, 130587983-130587984, 130587987, 130588010-130588013, 130588019, 130588024-130588025, 130588051-130588052, 130588070-130588075, 130588840-130588849, 130616589-130616590, 130616597-130616604, 130616610-130616616
1190GLE190.99380066762041132097131267137, 131267164-131267167, 131271283, 131286045-131286048, 131287479-131287480, 131287485
1191DOLK90.98886827458256181617131709004-131709008, 131709028-131709033, 131709375-131709380, 131709491
1192TOR1A90.9129129129129187999132586187-132586227, 132586274-132586282, 132586285-132586304, 132586306, 132586309-132586310, 132586323-132586328, 132586337-132586343, 132586361
1193POMT190.99219467401286172178134382787-134382790, 134394320, 134394834, 134397439-134397448, 134398394
1194SETX90.99551904406273368034135139848-135139856, 135139860, 135139866-135139871, 135139882, 135139884, 135139894-135139899, 135153487, 135153521-135153523, 135153533-135153538, 135153605, 135205314
1195TTF190.9977924944812462718135276842-135276844, 135276849, 135276855, 135276859
1196TSC190.9862660944206483495135772592-135772599, 135772602, 135772725, 135772913, 135777000-135777036
1197CEL90.752531924262445622271135937453-135937455, 135942264, 135942497-135942500, 135944583-135944589, 135945994-135946018, 135946483, 135946487, 135946524-135946564, 135946572-135946598, 135946635-135947043, 135947049-135947087, 135947098, 135947104-135947105, 135947139
1198SURF190.9014396456256989903136223124, 136223129-136223130, 136223132-136223133, 136223135-136223154, 136223161, 136223164-136223172, 136223276-136223329
1199ADAMTS1390.950513538748832124284136289473, 136293754-136293891, 136295059, 136295062, 136295133-136295143, 136295149, 136295163, 136295169, 136295173-136295178, 136298539-136298544, 136298595, 136298598, 136298602, 136301982, 136302007, 136302015, 136302032, 136302061, 136303438, 136303443, 136307854-136307861, 136308634, 136308638, 136308661-136308664, 136319575-136319595
1200DBH90.9848975188781281854136516774-136516775, 136521735, 136522239-136522240, 136522250, 136522279-136522282, 136522345-136522346, 136522348-136522350, 136523514, 136523524-136523533, 136523541-136523542
1201SARDH90.97352194414218732757136535737-136535745, 136535814-136535825, 136550327, 136568067, 136568111, 136597555-136597561, 136597606-136597609, 136597618, 136597630-136597636, 136597647-136597650, 136597692-136597703, 136599111-136599120, 136599202, 136599275-136599277
1202COL5A190.95051658510062735517137534034-137534142, 137623360-137623365, 137623374-137623376, 137623463-137623505, 137642396-137642398, 137642404-137642405, 137642408-137642410, 137694787, 137698066-137698070, 137701029-137701059, 137703353-137703354, 137705843, 137705873-137705875, 137706683, 137706687, 137710547-137710556, 137710559-137710562, 137710565-137710579, 137716506-137716525, 137726876-137726878, 137726928, 137726931, 137726942, 137726945-137726948
1203LHX390.635235732009934411209139089205-139089206, 139089295-139089371, 139089414-139089444, 139089481, 139089484-139089488, 139089499-139089500, 139089555, 139089579, 139090508-139090510, 139090559-139090574, 139090602-139090628, 139090644-139090647, 139090650-139090663, 139090754-139090905, 139091545-139091550, 139091619-139091620, 139091724-139091726, 139094792-139094885
1204INPP5E90.694573643410855911935139324130-139324156, 139326276-139326280, 139326297-139326345, 139326358-139326371, 139327030, 139327034, 139327717-139327718, 139328586, 139333060-139333069, 139333133, 139333139, 139333142-139333146, 139333150-139333152, 139333159-139333166, 139333177-139333182, 139333207-139333211, 139333214, 139333259, 139333303-139333551, 139333590-139333592, 139333609, 139333621-139333627, 139333635-139333665, 139333682, 139333692-139333698, 139333708-139333715, 139333721-139333730, 139333739-139333871
1205NOTCH190.904147104851337357668139390832-139390846, 139390854-139390859, 139390875-139390877, 139390899, 139390902, 139390912, 139390917-139390918, 139390928-139390934, 139390945-139390947, 139390952-139391001, 139391031-139391033, 139391042, 139391059-139391062, 139391088-139391092, 139391159, 139391177, 139391242-139391253, 139391280-139391286, 139391291-139391328, 139391346-139391349, 139391382-139391388, 139391440-139391449, 139391467-139391470, 139391515-139391521, 139391544-139391548, 139391550-139391551, 139391572, 139391575, 139391584, 139391593-139391595, 139391634, 139391724-139391735, 139391763-139391832, 139391847-139391898, 139391934-139391938, 139391945-139391946, 139391958-139391965, 139391969-139391971, 139391983-139392010, 139395081-139395115, 139395125-139395127, 139396303-139396311, 139396459, 139396823-139396832, 139396836-139396837, 139396842, 139396846-139396848, 139396851-139396852, 139396899-139396902, 139396916-139396918, 139399129, 139399184-139399194, 139399203-139399243, 139399257-139399280, 139399410, 139399554-139399556, 139399871, 139399951-139399954, 139399996-139400005, 139400008-139400024, 139400149, 139400173, 139400244-139400245, 139400274-139400280, 139400291, 139400295, 139402720, 139402731, 139402744-139402745, 139402748-139402750, 139403327, 139403336-139403337, 139403369-139403371, 139403377-139403381, 139403391-139403399, 139403432-139403439, 139403442-139403445, 139403453-139403454, 139407497-139407506, 139409991, 139409995, 139411724-139411735, 139411765-139411768, 139411794, 139411809-139411810, 139411816, 139411820-139411822, 139411834, 139417311-139417312, 139417390-139417396, 139417543, 139417582, 139440178-139440238
1206AGPAT290.67622461170848271837139568307-139568333, 139571110, 139571523, 139571529, 139571539-139571545, 139571557-139571559, 139571570-139571573, 139571576, 139571875, 139571878, 139571881-139571892, 139571913, 139571918, 139571923-139571944, 139571956-139571960, 139571988, 139581628-139581809
1207SLC34A390.7554411800140127027-140127064, 140127086-140127090, 140127135-140127140, 140127240, 140127339, 140127456-140127465, 140127738-140127766, 140127795-140127810, 140128089, 140128114-140128174, 140128315-140128393, 140128561-140128591, 140128615-140128620, 140128623-140128627, 140128630-140128651, 140128657-140128658, 140128685-140128722, 140128879-140128883, 140128892-140128895, 140128900, 140128905, 140128913-140128916, 140128920-140128932, 140128957-140128958, 140129136, 140130432, 140130435-140130436, 140130616, 140130701-140130703, 140130743-140130793, 140130846
1208EHMT190.973569412368491033897140513481-140513501, 140605444, 140605447, 140605456-140605462, 140605469-140605477, 140611195-140611200, 140611436, 140611439-140611445, 140638521-140638522, 140669698, 140671264, 140672362, 140672395, 140672418-140672420, 140706046, 140706051, 140706055, 140707934, 140708929-140708930, 140708934, 140708938-140708945, 140729275, 140729278-140729284, 140729308-140729312, 140729327, 140729356-140729361, 140729378-140729380, 140729384-140729385, 140729392
1209SHOXX0.75085324232082219879595479-595540, 595548-595554, 605135-605162, 605187-605198, 605231-605233, 605251-605261, 605267-605271, 605281-605371
1210CSF2RAX0.99540229885057613051419479, 1422816-1422820
1211KAL1X0.96524718551157120438699926-8699943, 8699954-8699957, 8699971-8699992, 8700000, 8700003-8700013, 8700024-8700032, 8700056-8700061
1212GPR143X0.948235294117656612759728798-9728799, 9733610-9733615, 9733625-9733626, 9733644, 9733670-9733724
1213RPS6KA3X0.996851102114267222320222158, 20284703, 20284725, 20284737, 20284741-20284743
1214SMSX0.9554950045413349110121958943-21958991
1215ARXX0.65956187092954575168925022978-25022987, 25025297-25025340, 25025348, 25025351-25025356, 25025378-25025404, 25025414-25025420, 25025477-25025481, 25025493, 25025501-25025510, 25025535-25025538, 25031043-25031047, 25031053, 25031176-25031183, 25031295-25031296, 25031322-25031326, 25031350-25031379, 25031394-25031396, 25031415-25031425, 25031437-25031812, 25031819-25031828, 25031866, 25031880-25031884, 25031890-25031892
1216NR0B1X0.9808917197452227141330326609-30326618, 30326808-30326814, 30326876-30326877, 30326880-30326885, 30326898-30326899
1217RPGRX0.88956345764672382345938145310-38145633, 38145646-38145667, 38145677-38145712
1218BCORX0.999810174639331526839923647
1219NYXX0.55878284923928638144641332759-41332766, 41332777-41332788, 41332825-41333328, 41333341-41333354, 41333360-41333394, 41333414, 41333439-41333475, 41333499-41333500, 41333521-41333526, 41333601-41333610, 41333789-41333790, 41333946-41333952
1220MAOAX0.999368686868691158443587520
1221SYN1X0.84513692162417328211847433564, 47433589-47433595, 47433604, 47433617-47433769, 47433791-47433798, 47433807-47433810, 47433834-47433841, 47433849-47433855, 47434106-47434112, 47434122-47434139, 47434145, 47478793-47478818, 47478839-47478845, 47478936-47478939, 47478942, 47478947-47478949, 47478958, 47479008-47479015, 47479043-47479051, 47479057-47479068, 47479086-47479127
1222CFPX0.996453900709225141047488923-47488926, 47488977
1223WASX0.9628893306825756150948547097, 48547102-48547106, 48547109, 48547192-48547193, 48547200, 48547221-48547227, 48547236-48547274
1224GATA1X0.998389694041872124248651669, 48651672
1225PQBP1X0.99749373433584279848760266-48760267
1226SYPX0.99893842887473194249056638
1227CACNA1FX0.9974721941354915593449087331-49087342, 49087348, 49087353-49087354
1228FOXP3X0.999228395061731129649107823
1229FGD1X0.9757449757449870288654494248-54494254, 54496772-54496774, 54496777-54496784, 54497067-54497081, 54521583-54521588, 54521745, 54521753-54521765, 54521775-54521779, 54521797, 54521855-54521865
1230ARX0.95801664857039116276366765149-66765152, 66765155-66765222, 66765234, 66765247, 66765987, 66766010-66766012, 66766195-66766200, 66766208-66766209, 66766213-66766216, 66766244-66766245, 66766339-66766344, 66766359, 66766362, 66766378-66766382, 66766390-66766397, 66766400, 66766405-66766406
1231EFNB1X0.992315081652268104168060296-68060303
1232EDAX0.9872448979591815117668836192-68836194, 68836197-68836198, 68836202-68836204, 68836207, 68836235, 68836319-68836323
1233DLG3X0.9832925835370841245469665052-69665069, 69665103, 69665110, 69665113-69665122, 69665156-69665157, 69665160-69665161, 69665172-69665173, 69665189-69665193
1234MED12X0.9872972145699483653470338605-70338609, 70338620-70338648, 70338651, 70338657-70338662, 70338667, 70361124-70361163, 70361214
1235GJB1X0.99178403755869785270444383-70444389
1236TAF1X0.97958465329109116568270586165-70586215, 70586226-70586231, 70586248, 70586255-70586268, 70586278-70586284, 70586308-70586344
1237SLC16A2X0.90499457111835175184273641328-73641364, 73641370-73641418, 73641432-73641437, 73641448-73641478, 73641536-73641545, 73641549, 73641553-73641563, 73641567, 73641621, 73641633-73641634, 73641652, 73641690-73641704, 73641735, 73641743-73641744, 73641756, 73641857-73641862
1238ATRXX0.999866292285061747976912085
1239BRWD3X0.9953780735810725540980064946-80064970
1240PCDH19X0.9957652752571114330699663435-99663436, 99663450-99663454, 99663466, 99663573-99663576, 99663579, 99663582
1241GLAX0.99147286821705111290100655677-100655687
1242OCRLX0.9988913525498932706128674428-128674429, 128674447
1243GPC3X0.99311531841652121743133119389-133119391, 133119396-133119403, 133119460
1244HPRT1X0.9589041095890427657133594342-133594368
1245SLC9A6X0.96628679962013712106135067690-135067716, 135067841-135067842, 135067906-135067911, 135067921-135067926, 135067937-135067942, 135067963-135067986
1246ZIC3X0.925213675213681051404136648877, 136648898-136648915, 136649007-136649010, 136649266, 136651065-136651145
1247SOX3X0.489932885906046841341139585885-139586491, 139586507-139586513, 139586627-139586632, 139586647-139586649, 139586678, 139586737-139586741, 139586751-139586771, 139586859-139586892
1248FAM58AX0.9333333333333349735152864446, 152864472-152864480, 152864483-152864521
1249SLC6A8X0.830712788259963231908152954030-152954291, 152959833-152959874, 152960241-152960246, 152960332-152960344
1250ABCD1X0.98346738159071372238152990963, 152990995, 152991099, 152991102-152991103, 152991254, 153008480-153008486, 153009017, 153009020, 153009030, 153009063-153009064, 153009137-153009155
1251L1CAMX0.9989401165871843774153130624-153130626, 153135381
1252MECP2X0.95858383433534621497153363061-153363122
1253OPN1LWX0.97808219178082241095153418521-153418544
1254OPN1MWX0.95799086757991461095153453337-153453343, 153455581-153455601, 153455651-153455668
1255OPN1MWX0.9662100456621371095153492701-153492719, 153492769-153492786
1256FLNAX0.9991188318227677944153599345-153599351
1257EMDX0.9385620915032747765153607897-153607926, 153608073-153608076, 153608082, 153608087, 153608098-153608102, 153608108-153608110, 153608137-153608139
1258GDI1X0.9828869047619231344153665611-153665614, 153665617-153665626, 153665634-153665642
1259G6PDX0.97741147741148371638153760222-153760239, 153760243-153760244, 153760288, 153760634, 153775038-153775048, 153775060-153775063
1260IKBKGX0.95491803278689661464153788642-153788678, 153788705, 153788708, 153788716, 153788735-153788760
1261USP9YY0.999869587897761766814898688
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
4WFS1-V333Ihomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
4WFS1-C426Yhet unknown0.008Dominant
pathogenic
Moderate clinical importance,
uncertain
Reported in a single case of familial depression, but no linkage data and no statistical significance.
4WFS1-R611Hhet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
4MYO1A-S797Fhet unknown0.008Dominant
pathogenic
Moderate clinical importance,
uncertain
Although reported to cause dominant, early-onset sensorineural hearing loss, this variant has been reported in the genome of an unaffected PGP participant.
2.5C3-P314Lhet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview
2.5C3-R102Ghet unknown0.053Complex/Other
pathogenic
Moderate clinical importance,
likely
This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%.
2.5SERPINA1-E366Khet unknown0.008Recessive
pathogenic
High clinical importance,
well-established
This is also called the "Pi Z" or "Z" allele. When homozygous (acting in a recessive manner) this variant is the major cause of severe alpha-1-antitrypsin deficiency (95% of cases) which often leads to emphysema or chronic obstructive pulmonary disease (COPD) and liver disease in adults and children. Heterozygosity for this variant may also be associated with increased rate of lung or liver problems, especially when combined with another variant with reduced function (compound heterozygous).
2.5SERPINA1-E288Vhet unknown0.047Recessive
pathogenic
Low clinical importance,
well-established
This variant represents the PiS variant in alpha-1-antitrypsin deficiency where a homozygous individual has 60% enzymatic activity. This variant alone is unlikely to much effect, but 3-4% of heterozygotes are compound heterozygous with the more severe PiZ variant, which is associated with an increased risk of emphysema and COPD.
2.5SERPINA1-V237Ahet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SP110-M523Thet unknown0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SP110-L425Shomozygous0.875Unknown
pathogenic
Low clinical importance,
uncertain
This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.
2.5SP110-G299Rhet unknown0.822Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SP110-A206Vhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SP110-W112Rhomozygous0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5TLR5-F822Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2.5TLR5-F616Lhomozygous0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
2.5TLR5-R392*het unknown0.035Complex/Other
pathogenic
Low clinical importance,
uncertain
This variant is believed to impair the ability to generate an immune response to the flagella of the bacteria. It is weakly associated with an increased incidence of Legionnaires' Disease, p = 0.085, increased lifetime risk of disease ~0.88% (about twice average). The variant is also weakly associated with a reduced incidence of systemic lupus erythematosus, p = 0.165.
2.5TLR5-Q181Khet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
2LIG4-T9Ihet unknown0.132Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.966 (probably damaging)
2LIG4-A3Vhet unknown0.023Dominant
protective
Low clinical importance,
uncertain
One report has associated this with a decreased risk of multiple myeloma.
2NEFL-S472ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1.5CYP2C9-R144Chet unknown0.027Unknown
pharmacogenetic
Moderate clinical importance,
well-established
This variant, also called CYP2C9*2, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is associated with Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant.
1.5KCNJ11-V337Ihomozygous0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5KCNJ11-K23Ehomozygous0.711Unknown
protective
Low clinical importance,
likely
This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.
1.375FIG4-K278Shifthet unknown0.008Recessive
pathogenic
Moderate clinical importance,
uncertain
This variant is predicted to cause a frameshift and may cause Charcot-Marie-Tooth Disease Type 4J in an autosomal recessive manner. Other variants in this gene which cause frameshift and premature termination have been implicated in causing this disease when compound heterozygous with another FIG4 variant.
1.375FIG4-V654Ahet unknown0.467Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25RYR2-S1400Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview
1.25RYR2-G1885Ehet unknown0.024Recessive
pathogenic
High clinical importance,
uncertain
Reported to cause arrhythmogenic right ventricular cardiomyopathy when compound heterozygous with G1886S, although this finding is weakened after correcting for multiple hypotheses and it is unclear what penetrance such a genotype might have, if it is causal.
1.25RYR2-Q2958Rhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25RNASEL-D541Ehomozygous0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1.25RNASEL-R462Qhet unknown0.208Complex/Other
pathogenic
Low clinical importance,
uncertain
Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AKAP10-I646Vhet unknown0.434Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1AKAP10-R249Hhet unknown0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1VSIG10L-N3ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1F5-Q534Rhomozygous0.991Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1IL13-Q144Rhomozygous0.766Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1ATG9B-A765ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ICAM1-G241Rhet unknown0.060Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.948 (probably damaging)
1ICAM1-K469Ehet unknown0.297Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ENO3-N71ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ENO3-V85AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AIM1-Q293Phet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1AIM1-E1196Ahomozygous0.935Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.015 (benign)
1AIM1-C1395Yhet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
1TTN-A19840PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R13163Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-P9631Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S3419Nhomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V3261Mhomozygous0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S1295Lhomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-K1201Ehomozygous0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-T811Ihomozygous0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-E190Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1MAPT-P202Lhomozygous0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
1MAPT-R370Whomozygous0.116Unknown
benign
Low clinical importance,
uncertain
Probably benign.
1MAPT-S447Phomozygous0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SEBOX-L207Shet unknown0.913Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MYH8-E1838Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.595 (possibly damaging), Testable gene in GeneTests
1MYH8-A636Vhomozygous0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MYH8-N565Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.406 (possibly damaging), Testable gene in GeneTests
1PIK3R6-L609ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CLECL1-S52Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RSPH4A-T149Shomozygous0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
1RSPH4A-L589Phomozygous0.707Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AKAP9-M463Ihomozygous0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-K1335KQhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-N2792Shomozygous0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1CCDC66-D5ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CCDC66-Q383Rhomozygous0.934Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CCDC66-RR460Q*het unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
1CCDC66-E592Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
1CCDC66-S606SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CYP1B1-N453Shet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1CYP1B1-V432Lhomozygous0.547Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SPG7-T503Ahet unknown0.095Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1SPG7-R688Qhet unknown0.072Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MLXIPL-F376Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging)
1MLXIPL-A358Vhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.345 (possibly damaging)
1MLXIPL-Q241Hhet unknown0.090Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging)
1CYP2B6-R22Chet unknown0.044Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.639 (possibly damaging)
1CYP2B6-Q172Hhet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign)
1CYP2B6-K262Rhet unknown0.298Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PTCHD3-*768Qhomozygous0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PTCHD3-I584Mhomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PTCHD3-M521Thomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PTCHD3-D473Ghomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
1PTCHD3-C407Ghomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
1PTCHD3-S309Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AK094914-K152NhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1AK094914-M25Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AK094914-A13ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ARSF-D59Hhomozygous0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KIF24-W218Lhomozygous0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1SEPN1-C108Yhomozygous0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SEPN1-N467KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1EGFL6-G114Rhomozygous0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
1BC112980-K147ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1H2BFM-Q73*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1HTR2C-C23Shomozygous0.191Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign)
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATP7A-V767Lhomozygous0.332Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DGKK-L1014ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SSX7-D182Ehomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
1HSPG2-V4332Ihomozygous0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HSPG2-A1503Vhomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1HSPG2-N765Shomozygous0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1HSPG2-M638Vhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1HABP2-T50MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRTAP7-1-Y17ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AK094577-C82Shifthomozygous0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ADAMTSL3-H146Rhet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
1ADAMTSL3-L290Vhomozygous0.833Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ADAMTSL3-V661Lhomozygous0.711Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1ADAMTSL3-L869Fhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.148 (benign)
1CILP-G1166Shomozygous0.766Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-K575Ehomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-I395Thet unknown0.491Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1HRNR-Q2781Hhet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H2772Rhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-L2688Shomozygous0.939Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-S799Thet unknown0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R664Qhet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Q519Phet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Y517Chet unknown0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-E473Ghomozygous0.951Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Q376Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhet unknown0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1IL6R-R232Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1IL6R-D358Ahomozygous0.266Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.911 (probably damaging)
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-V168Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.75MTHFR-E429Ahet unknown0.243Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.75MTHFR-A222Vhet unknown0.250Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
0.625MTRR-I49Mhet unknown0.313Recessive
pathogenic
Low clinical importance,
likely
This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.
0.625MTRR-S202Lhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625MTRR-K377Rhet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625MTRR-H622Yhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALDH7A1-K439Qhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MICA-L145Vhomozygous0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-G198Shomozygous0.337Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-I236Thomozygous0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-R274Qhomozygous0.538Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5APC-V1822Dhomozygous0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-V965Ihomozygous0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-R347Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERAP2-K392Nhomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ERAP2-N501Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC22A4-I306Thet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SLC22A4-L503Fhet unknown0.142Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HLA-DQA1-L8Mhet unknown0.457Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A11Thet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-C34Yhet unknown0.547Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-F41Shet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G84Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-IM98SLhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-T130Ihet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q152Hhet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q152Hhet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M230Vhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V235Ihet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-F41Yhomozygous0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-Q3848Khet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R2597Qhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2495Shet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-V2127Mhet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhomozygous0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-S921Ahet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA0947-C391Shet unknown0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.038 (benign)
0.5KIAA0947-V901Ihet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.445 (possibly damaging)
0.5KIAA0947-T1054Ahet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5KIAA0947-G1058Dhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.509 (possibly damaging)
0.5KIAA0947-C1388Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5PSORS1C2-P94Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PSORS1C2-L83Phet unknown0.936Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HSPA1L-E602Khet unknown0.225Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.868Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5COL11A2-P894Lhet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MDC1-R1883Qhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5GPR98-L1093Fhet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihet unknown0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-N1985Dhet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-L2004Fhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.841 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shet unknown0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-G3248Dhet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khet unknown0.834Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihomozygous0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SLIT3-G1518Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5SLIT3-P1107Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.157 (benign)
0.5SLIT3-G618Shet unknown0.587Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLIT3-V371Ahomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IL7R-I66Thomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-V138Ihomozygous0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-T244Ihet unknown0.150Unknown
protective
Low clinical importance,
likely
The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000).
0.5IL7R-I356Vhet unknown0.214Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MSX2-M129Thomozygous0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAD17-L557Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5POLK-G403Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SLC26A2-I574Thomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AP3B1-K804Delhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AP3B1-V585Ehomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5FAT2-P4117Lhet unknown0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-M3631Ihomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.129 (benign)
0.5FAT2-L3514Shomozygous0.765Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-A2907Thet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FAT2-F2428Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-G1515Shet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-V1462Mhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-Y1181Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-P248Shet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
0.5FAM105A-F319Lhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.916 (probably damaging)
0.5AX746964-G175Shifthet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AX746964-K166Ihet unknown0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FLT4-R1324Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLT4-T494Ahet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5HUS1B-D268Yhomozygous0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HUS1B-H130Qhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5HLA-H-Q61Rhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-L145Rhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-A147Vhet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-SP182WShet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-SP182WShet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-C238Shomozygous0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BC040901-C89Whet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-P93Shet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-A106Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ADAMTS2-P1177Shet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ADAMTS2-R827Qhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.876 (probably damaging)
0.5ADAMTS2-V245Ihomozygous0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5DNAH5-I766Lhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMEM173-E304Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TMEM173-H232Rhomozygous0.882Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PROP1-A142Thet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GHRHR-T6Ihet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLPS-R109Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.977 (probably damaging)
0.5RP1-N985Yhomozygous0.206Unknown
benign
Low clinical importance,
uncertain
Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.
0.5RP1-C2033Yhomozygous0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.5PEX2-C184Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNGB3-T298Phet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.939Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CSMD3-L3488Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.025 (benign)
0.5CSMD3-R1228Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CSMD3-I219Mhet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.5HGSNAT-A615Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MCPH1-R171Shomozygous0.865Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhet unknown0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-S801Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.746 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-P828Shet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLNC-R1567Qhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.676 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5FAM180A-D122Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5CLCN1-G118Whomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AF035281-S47Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZFAT-S470Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.94 (probably damaging)
0.5ZC3H3-P857Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5ZC3H3-S452Ghet unknown0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZC3H3-I6Mhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SVEP1-A2750Vhomozygous0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SVEP1-D2702Ghet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5SVEP1-L1648Vhomozygous0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SVEP1-M1444Lhomozygous0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SVEP1-I1157Vhomozygous0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.907 (probably damaging)
0.5SVEP1-R843Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SVEP1-Q581Hhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5SVEP1-R229Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5DFNB31-H752Qhomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thet unknown0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-V1540Lhet unknown0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-R1045Thet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-G1022Ehet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GSN-V179Mhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.564 (possibly damaging), Testable gene in GeneTests
0.5TMC1-E81Khet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TMC1-M486Thet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TAF1L-M371Vhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5SHARPIN-R365Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5GPT-H14Nhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPT-R107Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview
0.5MEGF6-G1137Ahet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.292 (possibly damaging)
0.5MEGF6-P1135Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5MEGF6-R916Lhet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.114 (benign)
0.5MEGF6-A313Vhet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.389 (possibly damaging)
0.5MEGF6-S131Ghomozygous0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TOPORS-S25Whet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FAM154A-A422Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5FAM154A-K345Rhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5FAM154A-C313Whet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.087 (benign)
0.5FAM154A-P63Shet unknown0.764Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM154A-K27Ehomozygous0.438Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.387 (possibly damaging)
0.5PTPRZ1-S913Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PTPRZ1-D1431Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PNPLA8-I447Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5COL9A1-Q621Rhomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A1-S339Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASP8AP2-T1567Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CASP8AP2-S1568Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ALDH8A1-P401Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.903 (probably damaging)
0.5BCLAF1-E582Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5BCLAF1-S209Chet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5BCLAF1-G66Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PHF3-K148Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5PKHD1-Q4048Rhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhomozygous0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chomozygous0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX6-P939Qhet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX6-A809Vhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUL7-Q813Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUL9-G213Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5CUL9-H2058Phet unknown0.423Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CLIC5-P257Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.915 (probably damaging)
0.5SYNE1-G8323Ahomozygous0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhet unknown0.866Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thet unknown0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhet unknown0.539Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-A2795Vhet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahet unknown0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-R843Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.25 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SLC22A2-S270Ahomozygous0.876Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EGFR-R521Khet unknown0.259Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PION-D484Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.952 (probably damaging)
0.5PION-H47Rhomozygous0.922Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL1A2-P549Ahomozygous0.907Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP3A7-R409Thomozygous0.669Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CCM2-V120Ihet unknown0.091Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5OGDH-H3Yhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.855 (probably damaging)
0.5PHF14-G414*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5DNAH11-E34Lhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-Q639Rhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-S654Chet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.747Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shet unknown0.367Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thet unknown0.501Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhomozygous0.452Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GARS-P42Ahomozygous0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_024390-W43*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FAT1-K4059Nhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-S3554Ahet unknown0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-Q2933Phet unknown0.695Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-T1585Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5FAT1-R1268Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5FAT1-R1064Ghomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-V862Lhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-F614Lhomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-V482Ihomozygous0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-S404Rhomozygous0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5A4GNT-R266*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5A4GNT-A218Dhomozygous0.655Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TLR3-P880Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5EDARADD-M9Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OR2T11-Q309Rhomozygous0.948Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5OR2T11-M203Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5OR2T11-C119Rhomozygous0.843Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5APOB-S4338Nhomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-I2313Vhet unknown0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-Y1422Chomozygous0.994Unknown
benign
Low clinical importance,
uncertain
This position is almost certainly an error in the HG18 reference sequence.
0.5APOB-T98Ihet unknown0.149Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OTOF-D304Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OTOF-F303Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OTOF-R82Chet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5URB2-V778Ghet unknown0.581Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5URB2-R1408Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5EPHX1-Y113Hhet unknown0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5LAMC2-D247Ehet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.328 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CFHR2-E199*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ASPM-L2647Ihomozygous0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghomozygous0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-E3411Ahomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thomozygous0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khet unknown0.646Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thet unknown0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHIT1-V357V*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
0.5GCKR-L446Phet unknown0.673Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ALK-D1529Ehomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EIF2AK3-A704Shet unknown0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-D566Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhet unknown0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-S136Chet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TEKT4-S349Lhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.886 (probably damaging)
0.5VWA3B-R181Whet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5VWA3B-I513Thet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5VWA3B-L677Vhomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWA3B-V885Mhomozygous0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWA3B-R1245Khet unknown0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MFSD9-G188Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5KDM3A-I212Vhomozygous0.853Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KDM3A-V1131Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5PTCD3-L16Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PTCD3-V70Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.92 (probably damaging)
0.5FSHR-S680Nhet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FSHR-A307Thet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FSHR-R162Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CEP68-G74Shet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CEP68-L397Phet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5APLF-I100Vhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5APLF-S224Thet unknown0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5APLF-Q433Khet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5ALMS1-R392Chet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.857Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-G1414Ahet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I1875Vhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2111Rhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2284Phet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2826Shet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-N2856Shet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khet unknown0.527Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD207-F317Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5TOR1AIP1-Q293Hhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.874 (probably damaging)
0.5FMO3-E158Khomozygous0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FMO3-E308Ghet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview
0.5COL9A2-Q326Rhomozygous0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A2-T246Mhet unknown0.023Unknown
benign
Low clinical importance,
likely
Probably benign.
0.5MUTYH-Q311Hhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.017 (benign), Testable gene in GeneTests
0.5MUTYH-V8Mhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FAAH-P129Thet unknown0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign)
0.5CYP4A22-R126Whet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-G130Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CYP4A22-N152Yhet unknown0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-C231Rhet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-L428Phet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RLF-G957Dhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5GJA4-R132Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5GJA4-P319Shet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NPHP4-P1160Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.439 (possibly damaging), Testable gene in GeneTests
0.5ARHGEF19-R633Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5RNF186-P208Thet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
0.5SYTL1-G365Dhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SYTL1-Q444Rhet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GRHL3-T454Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ORC1-S269Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.825 (possibly damaging), Testable gene in GeneTests
0.5CPT2-V368Ihet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPT2-M647Vhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SEC22B-D70Yhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SEC22B-T81Khet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC22B-C129Rhet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC22B-R131*het unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SEC22B-H189Rhet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FLG-V3179Ghet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-E2976Dhet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-G2545Rhet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-H2507Qhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-L2481Shet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-S2366Thet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.967 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLG-EK1871DEhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-A1805Vhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1699Chet unknown0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1684Hhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-S1482Yhet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-A1167Ghet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-E755Khet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-P478Shet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-T454Ahet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.075 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-G444Rhet unknown0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLG-G332Vhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CRABP2-G105Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DUSP27-E265Dhet unknown0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DUSP27-D877Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.168 (benign)
0.5DUSP27-D1067Nhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.868 (probably damaging)
0.5DUSP27-T1124Nhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5DUSP27-Q1153Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.183 (benign)
0.5MAEL-R133Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5LRIG2-V491Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5COL11A1-S1547Phomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhomozygous0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACOT11-R256Whet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ACOT11-R314Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5INADL-R130Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5INADL-E362Ahet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5INADL-I870Mhomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5INADL-G1178Shet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EFCAB7-T248Ihet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.054 (benign)
0.5EFCAB7-M262Thet unknown0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EFCAB7-V324Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5DBT-S384Ghomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LPHN2-P456Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5RANBP2-G2692Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZC3H8-K287Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PCCB-C291Yhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.954 (probably damaging), Testable gene in GeneTests
0.5POMT1-V305Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5POMT1-D411Ehet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GFM1-V215Ihet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5GFM1-V664Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.384 (possibly damaging), Testable gene in GeneTests
0.5EIF2B5-I587Vhomozygous0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC41A3-L501Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC41A3-T62Ahomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HGD-Q80Hhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5POC1A-V85Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.909 (probably damaging)
0.5ATXN7-K264Rhet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.949 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ATXN7-V862Mhomozygous0.485Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-I334Vhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_015394-G45Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DCBLD2-I144Mhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5EVC-Q74Phet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-Y258Hhomozygous0.721Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BST1-R125Hhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CFI-T300Ahomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BBS12-R386Qhet unknown0.515Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5BBS12-D467Nhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TLR2-P631Hhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5GALNT7-P50Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.906 (probably damaging)
0.5DCHS2-S2117Ahet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.963 (probably damaging)
0.5DCHS2-V2007Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DCHS2-S1205Lhet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.993 (probably damaging)
0.5DCHS2-N897Shomozygous0.832Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5DCHS2-P870Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5DCHS2-S344Lhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DCHS2-H174Rhet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.317 (possibly damaging)
0.5DCHS2-V153Ahet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.227 (possibly damaging)
0.5HADH-K28Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HADH-L86Phomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TBCK-Q266Ehomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TBCK-P51Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.939 (probably damaging)
0.5TMPRSS11F-D365Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.5UGT2B15-K523Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5UGT2B15-Y85Dhomozygous0.500Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5UGT2A1-V391Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.032 (benign)
0.5UGT2A1-Y192*het unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5UGT2A1-R75Khomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADH1B-H48Rhet unknown0.678Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FAM175A-D373Nhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5USP19-K176Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.947 (probably damaging)
0.5EXOG-G277Vhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SESTD1-S391Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5SSFA2-P836Lhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5COL3A1-P602Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-A698Thet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL5A2-P460Shet unknown0.016Unknown
benign
Low clinical importance,
uncertain
Tentatively benign. Although predicted to be damaging by Polyphen 2, this variant is seen in 2 out of 62 PGP & public genomes. OMIM lists other more disruptive variants (frameshift & nonsense) as reported to cause Ehlers-Danlos syndrome when homozygous.
0.5COL5A2-M361Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LRP2-I4210Lhomozygous0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehomozygous0.744Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-N83Shomozygous0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SCN1A-A1056Thomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN1A-E289Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL1RN-S21*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5GLI2-A1156Shomozygous0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-D1306Nhomozygous0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MMADHC-K29Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
0.5GALNT5-D678Ahet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5NEB-I6534Vhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phet unknown0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thet unknown0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhomozygous0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.668Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RFTN2-V76Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.952 (probably damaging)
0.5CASP10-L522Ihomozygous0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-G43Rhomozygous0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-L141Phomozygous0.760Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.764Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhomozygous0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SH3BP4-P169Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SH3BP4-M178Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KCNH8-R495Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5KCNH8-Q893Rhet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5DCLK3-E633Dhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5CMTM6-T91Ahet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5OBSL1-Q1578Rhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhet unknown0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IGFBP5-R138Whet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5ALS2CR11-H1716Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ALS2CR11-S1141*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ALS2CR11-C1039Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALS2CR11-H376Qhomozygous0.478Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALS2-V368Mhomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPS1-T344Ahomozygous0.583Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ATIC-T116Shet unknown0.184Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5ATIC-F265Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABCA12-S777Thomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA12-S459Thet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5DOCK8-P97Thet unknown0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5DOCK8-N413Shet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.19 (benign), Testable gene in GeneTests
0.5DOCK8-A1970Phet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5CTAGE5-V6Ahomozygous0.946Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CTAGE5-I699Vhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CTAGE5-R715Ghet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CTAGE5-G738Rhet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPR56-S281Rhet unknown0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR56-Q306Hhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNGB1-A961Vhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB1-G238Shet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB1-R100Hhet unknown0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CES3-T224Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5NQO1-P187Shet unknown0.283Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.215 (possibly damaging)
0.5SLC12A3-R928Chet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SALL1-V1275Ihomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DCI-T76Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5ZNF205-P279Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5MYH11-V1296Ahet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNRC6A-Q1112Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5ABCC6-M848Vhomozygous0.954Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-H632Qhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DHODH-K7Qhomozygous0.560Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign)
0.5ZFHX3-Q2014Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5ZFHX3-S72Ahet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH9-Q445Rhomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH9-M604Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5DNAH9-N2195Shet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.174 (benign)
0.5DNAH9-M4374Ihet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.659 (possibly damaging)
0.5UNC45B-I852Nhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5STARD3-R117Qhomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.145 (benign)
0.5STARD3-R352Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5JUP-M697Lhomozygous0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT14-C63Yhomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH3-A1752Thet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYH3-A1192Thet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYH3-A1003Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.019 (benign), Testable gene in GeneTests
0.5MFSD6L-R486Hhet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.913 (probably damaging)
0.5MFSD6L-I339Thet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5MFSD6L-L85Ihet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5MBTPS1-V735Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5CYBA-Y72Hhet unknown0.649Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SNAI3-V7Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5NLRP1-Q533Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5ALOX15-Y139Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PKD1-A4059Vhet unknown0.048Unknown
benign
Low clinical importance,
likely
Probably benign.
0.5PKD1-A3512Vhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5PKD1-F3066Lhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CACNA1H-V664Ahomozygous0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.038 (benign)
0.5CACNA1H-T1842Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5CACNA1H-A2299Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HEATR4-R191Chet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MLH3-P844Lhomozygous0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-T641Ahomozygous0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5NM_001080841-V80Ahet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_001080841-R85Chet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_001080841-R102*het unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5MAP3K9-G503Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5VTI1B-R176Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5C14orf104-D768Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C14orf104-E62Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KLHDC2-Y247Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5TRIM9-L653Fhomozygous0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRIM9-V338Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.877 (probably damaging)
0.5PLEKHH1-P257Hhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5PLEKHH1-H735Rhet unknown0.463Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLEKHH1-R1348*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5WDHD1-P638Ahet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5WDHD1-I235Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AVEN-E243Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5SPTBN5-A3240Ghet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-Y2922Hhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-Q2827Rhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-T2678Ihet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-R1848*het unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SPTBN5-R1310Hhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-V1025Ihet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-C1000Rhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-Q960Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SPTBN5-H398Rhomozygous0.870Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LCTL-S31Phet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.954 (probably damaging)
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5HEXA-I436Vhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC28A1-V189Ihomozygous0.313Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC28A1-Q237Khet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A1-D521Nhet unknown0.226Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ETFA-T171Ihet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5SETX-I1386Vhomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CGNL1-H322Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CGNL1-T380Phomozygous0.987Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CGNL1-S459Fhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CGNL1-L1101Vhet unknown0.315Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DUOX2-S1067Lhet unknown0.662Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P982Ahet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-R701Qhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-H678Rhet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhet unknown0.926Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SHF-P299Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SHF-R288*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SHF-A177Phomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRPM7-T1482Ihet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.017 (benign)
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-S1634Ghomozygous0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-K1183Rhomozygous0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-E1038Ghomozygous0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5BRCA1-P871Lhomozygous0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NPEPPS-M241Thet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5NPEPPS-G322Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DEFB126-Q55Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DEFB126-P106Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FASTKD5-I288Thet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5CSRP2BP-V400Ghomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CSRP2BP-P600Rhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PIGT-D257Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5LILRA1-V5Lhet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRA1-R12Ghet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRA1-S153Ghet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRA1-L220Phet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRA1-GE261WGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LILRA1-Y301Hhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRA1-V387Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5CACNG6-C252Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CEACAM19-P269Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.944 (probably damaging)
0.5FUT2-W154*het unknown0.364Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FUT2-G258Shet unknown0.390Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.954 (probably damaging)
0.5DHDH-S66Nhet unknown0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-V247Ahet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-E294Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ETFB-P94Shifthet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5NUP62-T235Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.868 (probably damaging)
0.5NUP62-T138Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5TPTE-L470Phomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TPTE-K386Ehomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TPTE-R229*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5TPTE-R222Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TPTE-R195Qhet unknown0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CBR3-C4Yhomozygous0.391Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign)
0.5ARFGAP3-M431Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5NUP50-R45Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CSF2RA-A17Ghomozygous0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.168 (benign), Testable gene in GeneTests
0.5CSF2RA-R84Hhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.777 (possibly damaging), Testable gene in GeneTests
0.5ATRX-Q929Ehomozygous0.565Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R2937Qhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCF20-I1649Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.92 (probably damaging)
0.5TCF20-G57Shomozygous0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HPS4-Q620Hhomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.807Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNMT3L-R271Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.882 (probably damaging)
0.5LRRC3-R227Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SLC19A1-H27Rhomozygous0.447Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign)
0.5NR_027052-R29Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027052-T53Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_027052-Y63Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5COL6A2-S399Nhomozygous0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A2-R680Hhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ZNF224-M118Vhomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-K640Ehomozygous0.593Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PRX-G1132Rhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5RNF157-T476Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5TGIF1-P292Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP8B1-A1152Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD226-S307Ghet unknown0.423Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ITGB4-L1779Phomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-K347Nhomozygous0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhomozygous0.515Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5OSBPL7-S587Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PCTP-C63Yhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SEPT4-E311Vhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.856 (probably damaging)
0.5DNAI2-A558Thomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-N1376Dhomozygous0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-V730Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.334 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA7-E188Ghet unknown0.307Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.239 (possibly damaging)
0.5ABCA7-R1349Qhet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCA7-F1390Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5ABCA7-G1527Ahet unknown0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCSK4-T267Mhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5PGLYRP2-R476Whet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PGLYRP2-M270Khomozygous0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.2 (possibly damaging)
0.5PGLYRP2-T46Ahomozygous0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NCAN-R214Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5ZNF737-Y369Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ZNF737-C78Ghet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5WDR62-L850Shomozygous0.677Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-Q1310Lhet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-G1375Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-L1390Fhet unknown0.736Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FXYD3-K60Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.901 (probably damaging)
0.5AKAP8-R206Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5IL27RA-P181Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5IL27RA-L188Phet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.761 (possibly damaging)
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shomozygous0.910Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ZNF317-Q19Hhomozygous0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ZNF317-Q19Hhomozygous0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5KANK2-Q201Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.854 (probably damaging)
0.5MAN2B1-R337Qhomozygous0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-T312Ihomozygous0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-L278Vhet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF563-R353*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5APH1B-T27Ihet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5KRT6C-V481Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAD52-R396Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.959 (probably damaging)
0.5VWF-T1381Ahet unknown0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T789Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phomozygous0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-L2348Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhomozygous0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhomozygous0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMBT1-P42Thomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.941 (probably damaging)
0.5DMBT1-S54Lhomozygous0.692Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.84 (possibly damaging)
0.5DMBT1-H1084Yhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DMBT1-S1095Phet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.754 (possibly damaging)
0.5ARMS2-A69Shet unknown0.294Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FAM45A-R151*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SLCO1B3-S112Ahomozygous0.646Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.659Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.131 (benign)
0.5SLCO1B1-N130Dhet unknown0.663Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLCO1B1-P155Thet unknown0.071Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MYOF-R1783Qhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5KRT83-H493Yhet unknown0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP2C8-K399Rhet unknown0.061Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5CYP2C8-R139Khet unknown0.078Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.015 (benign)
0.5MLL2-T1246Mhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLL2-P1191Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BDNF-V148Mhet unknown0.208Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LRRK2-R50Hhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-N551Khet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R1398Hhet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VDR-M1Thet unknown0.687Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5SNX19-L878Rhomozygous0.808Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SNX19-N753Shet unknown0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-V361Lhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MKI67-K3217Ehet unknown0.426Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.017 (benign)
0.5MKI67-P2608Lhet unknown0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5MKI67-N2363Shet unknown0.426Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MKI67-R1389Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MKI67-G1226Vhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5MKI67-K1144Ehet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.129 (benign)
0.5MKI67-A872Vhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MKI67-W238Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MKI67-R123Hhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SBF2-E679Khet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MS4A14-I56Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MS4A14-N177Yhomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5MS4A14-G584Rhet unknown0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5INSC-D333Nhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5INSC-N444Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5ABCC8-A1369Shomozygous0.755Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-K457Nhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.051 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-D463Nhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH1C-E819Dhomozygous0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VPS37C-L198Shet unknown0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VPS37C-V182Dhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.243 (possibly damaging)
0.5VPS37C-T8Nhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5UCP3-R282Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5NPAT-N999Khet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5NPAT-V575Ihet unknown0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK160367-D257Ehomozygous0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK160367-M356Vhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK160367-V377Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ATM-N1983Shomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TH-V108Mhomozygous0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAT3-Q1726Rhet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5FAT3-I2755Vhet unknown0.848Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT3-T3011Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.5FAT3-S3812Ghomozygous0.829Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYO7A-S1666Chomozygous0.610Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L1954Ihomozygous0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-Q1964Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1195Phet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-K368Rhet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S116Phet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRPM5-A364Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5TRPM5-V254Ahet unknown0.794Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRPM5-N235Shet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KAZALD1-G236Dhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.967 (probably damaging)
0.5ATP7B-V1140Ahomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-R952Khomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-K832Rhomozygous0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SUCLA2-S199Thomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IRAK3-H57Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5IRAK3-I147Vhomozygous0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCDC62-T646Mhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5LLPH-M75Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CDH23-N1349Dhomozygous0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R1434Qhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRIG3-A258Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ARHGAP22-R28Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SVIL-A2041Vhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.028 (benign)
0.5SVIL-S1688Phet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SVIL-P1235Ahet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5SVIL-R632Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SVIL-V422Ihomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SVIL-V189Ahet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CENPJ-S879Ahet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5CENPJ-P85Thet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.021 (benign), Testable gene in GeneTests with associated GeneReview
0.5NEBL-K60Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5BMPR1A-P2Thomozygous0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AKAP11-E902Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.952 (probably damaging)
0.5SH2B3-W262Rhet unknown0.768Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HNF1A-I27Lhet unknown0.311Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-V133Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S487Nhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CHAT-A120Thet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IDI2-W144*het unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5AAAS-R434Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5COL4A1-T555Phomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT4-G160GAGGFGAGFGTGGFGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SDCCAG3-V379Mhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5SDCCAG3-R304Qhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5SDCCAG3-S123Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5ERBB3-R1077Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.887 (probably damaging)
0.5ANXA11-R230Chet unknown0.382Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ANXA11-R191Qhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SLC39A12-S36Ghet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC39A12-V304Ihomozygous0.677Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC39A12-Q342Rhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5HOXC6-R67Whet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.375HPS1-Q604Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375HPS1-P491Rhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.983 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.375FMO2-D71DDhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.375FMO2-F81Shet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375FMO2-V113Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.375FMO2-S195Lhet unknown0.465Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.375FMO2-N413Khet unknown0.149Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.375NAT2-I114Thet unknown0.220Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.375NAT2-R268Khet unknown0.675Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25STXBP2-I526Vhet unknown0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KIAA1383-D325Ghet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25KIAA1383-S328Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25IKBKAP-P1158Lhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-C1072Shet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AGT-M268Thet unknown0.733Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TSC1-M322Thet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOS3-D298Ehet unknown0.844Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NOTCH3-A2223Vhet unknown0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HEATR1-N1694Shet unknown0.697Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HEATR1-D1570Ehet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.181 (benign)
0.25HEATR1-S1559Nhet unknown0.218Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HEATR1-Y1433Chet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HEATR1-I1102Thet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HEATR1-A580Thet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HEATR1-H348Rhet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PINK1-N521Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC13A4-E51Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC13A4-A45Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC13A4-T44Ahet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PNPLA3-I148Mhet unknown0.268Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.778 (possibly damaging)
0.25PNPLA3-K434Ehet unknown0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SHANK3-I245Thet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFTR-V470Mhet unknown0.621Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DENND5A-V324Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DENND5A-E224Qhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SFTPC-T138Nhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SFTPC-S186Nhet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LDLRAP1-S202Phet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.25LDLRAP1-S243Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25VPS13B-G3407Rhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TMEM67-I604Vhet unknown0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25STIL-H985Rhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25STIL-A86Vhet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MKKS-G532Vhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview
0.25MKKS-R517Chet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25DPYD-R29Chet unknown0.731Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COL9A3-A435Ehet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.568 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25MMP9-Q279Rhet unknown0.477Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LEPR-K109Rhet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.25LEPR-Q223Rhet unknown0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.25KCNE1-S38Ghet unknown0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25NLRP12-S441Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NLRP12-G39Vhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.25GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-I81Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-V159Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-C194*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25LAMB3-M852Lhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25NPHS1-E117Khet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25MYH9-I1626Vhet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DLL3-L218Phet unknown0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C10orf113-D100Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-S22Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PCDH15-D440Ahet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FPR1-E346Ahet unknown0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-R190Whet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-V101Lhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-I11Thet unknown0.831Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SIX5-V693Mhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview
0.25SIX5-P635Shet unknown0.533Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25STX6-L127Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25STX6-A126Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BRIP1-S919Phet unknown0.652Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C12orf60-K65Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf60-N103Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf60-M184Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25HTT-Y2309Hhet unknown0.459Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HTR3C-N163Khet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.034 (benign)
0.25HTR3C-P342Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25HTR3C-G405Ahet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.127 (benign)
0.25KRT6B-I365Vhet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25BBS4-I354Thet unknown0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TLR6-S249Phet unknown0.855Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TLR1-S602Ihet unknown0.727Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-L210Shifthet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CELA1-M59Vhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MUT-I671Vhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOD2-P268Shet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NOD2-L663Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PON1-L55Mhet unknown0.230Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25LMBRD1-D469Ehet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25DRD3-G9Shet unknown0.482Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DST-A5546Thet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DST-M3317Ihet unknown0.812Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DST-T3230Ahet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DST-R2795Hhet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DST-Q1812Rhet unknown0.345Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DST-L855Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25IQCB1-C434Yhet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25TULP1-K261Nhet unknown0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TULP1-I259Thet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ITGA7-R655Hhet unknown0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ITGA7-VI299ALhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLN5-R2Chet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SIX6-H141Nhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25NIPAL4-R213Ghet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25C5orf20-R117*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C5orf20-N97Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf20-T75Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TCOF1-V887Ahet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TCOF1-P1139Rhet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SYNE2-M1969Thet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.25SYNE2-A2284Vhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.25SYNE2-S2359Nhet unknown0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.25SYNE2-A2395Thet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SYNE2-S2802Ghet unknown0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.25SYNE2-I2942Vhet unknown0.622Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SYNE2-D3253Hhet unknown0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.25SYNE2-H3309Rhet unknown0.647Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25SYNE2-W4001Qhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SYNE2-L5186Mhomozygous0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SACS-V3369Ahet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SPG11-F463Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC28A2-P22Lhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A2-S75Rhet unknown0.253Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TTBK2-L8Phet unknown0.560Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDAN1-R891Chet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q596Rhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SPATA7-V74Mhet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25XRCC3-T241Mhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.188 (benign)
0.25LCA5-L24Shet unknown0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25BBS9-A455Thet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25INTS2-N768Hhomozygous0.984Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25INTS2-K163Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DL492456-R148Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DL492456-Y109ChomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DL492456-W104*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ALG8-N222Shet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25GLI3-T183Ahet unknown0.663Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NPSR1-N107Ihet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25NPSR1-Q344Rhet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ITGA6-A380Thet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SULT1C4-D5Ehet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25UNC13D-K867Ehet unknown0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MOGS-P293Shet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MOGS-D239Nhet unknown0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
0.25ALX4-R35Thet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25DSC3-R102Khet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSC3-S78Thet unknown0.478Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25LAMA3-N2815Khet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCB1-S893Ahet unknown0.625Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GAA-H199Rhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-R223Hhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-V780Ihet unknown0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TXNDC3-R43Khet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TXNDC3-I338Thomozygous0.031Unknown
benign
Low clinical importance,
uncertain
Tentatively classified as benign, but predicted to be damaging and other variants in this gene are implicated in causing primary ciliary dyskinesia (situs inversus, chronic sinusitis, and bronchiectasis).
0.25TXNDC3-I493Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.25PLG-D472Nhet unknown0.151Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PMS2-K541Ehet unknown0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ERBB2-I655Vhet unknown0.121Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.18 (benign)
0.25ERBB2-P1170Ahomozygous0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.983 (probably damaging)
0.25PARK2-V380Lhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-T266Ahet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CTNS-T260Ihet unknown0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HYLS1-C31Rhet unknown0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.25ATG16L1-T300Ahet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25COL6A3-A3012Phet unknown0.843Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A3-M2927Thet unknown0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SOD2-V16Ahet unknown0.362Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRRC50-K393Rhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-P502Lhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L633Shet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L659Phet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC50-S675Thet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25AHR-R554Khet unknown0.315Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CTLA4-T17Ahet unknown0.463Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.25VWDE-F1485Chomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-K1273Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25VWDE-Q1256Khet unknown0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-T1032Mhet unknown0.773Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-S607Fhet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-G340Dhet unknown0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-F292Ihet unknown0.615Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-S142Fhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0DTNBP1-P272Shet unknown0.022Recessive
protective
Low clinical importance,
uncertain
Possibly a slight protective effect against colorectal cancer if homozygous.
0HFE-H63Dhet unknown0.086Recessive
pathogenic
Low clinical importance,
uncertain
There have been some hypotheses that this variant contributes to causing hereditary hemachromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles.
0SIAE-M89Vhet unknown0.034Recessive
pathogenic
Moderate clinical importance,
uncertain
This variant, which has a 3.4% allele frequency in 1000 genomes data, is reported to be associated with autoimmune disease when homozygous. The statistical significance of the findings is unclear. Assuming it is pathogenic, we estimate that the relative risk of autoimmune disease in homozygous individuals is around 4x (8% risk vs. an average of 2% risk).
0ACAD8-S171Chet unknown0.023Recessive
pathogenic
Low clinical importance,
uncertain
This variant (a.k.a S149C) was found as a compound heterozygote (with M130T) in a male newborn of European descent with isobutyryl-CoA dehydrogenase deficiency (identified by newborn screening). Lack of controls means that significance cannot be established and allele frequency cannot be estimated. Oglesbee et al. comment that IBD-deficiency may be relatively benign, most cases identified by newborn screening have remained asymptomatic, but Ferreira et al. report a symptomatic individual homozygous for this variant.
0BBS7-D412Ghet unknown0.008Recessive
pathogenic
High clinical importance,
uncertain
Predicted to have damaging effect, other mutations in this gene have been implicated in causing Bardet-Biedl syndrome in a recessive manner.

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,762,654,906 bases (96.7% of callable positions, 89.7% of total positions)

Coding region coverage: 31,423,435 bases (94.4% of all genes, 95.7% of genes with clinical testing available)

Chromosomes: chr1, chr10, chr11, chr12, chr13, chr14, chr15, chr16, chr17, chr18, chr19, chr2, chr20, chr21, chr22, chr3, chr4, chr5, chr6, chr7, chr8, chr9, chrM, chrX, chrY

Gene search

"GENE" or "GENE A123C":

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