Variant report for hu14ECAE
- Data source: hu14ECAE: var-GS000039600-ASM.tsv.bz2
- This report: evidence.pgp-hms.org/genomes?3b020ae30cc265bf5857adacfcf14d37b822925d
- Person ID: hu14ECAE
- public profile: my.pgp-hms.org/profile/hu14ECAE
- Download: source data, dbSNP and nsSNP report (118 MB)
- Show debugging info
Log file:
| Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
|---|---|---|---|---|---|---|---|
| 1 | COL4A1-Q1334H | Low | Likely | Likely pathogenic Dominant, Heterozygous | 0.324689 | This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%. | 1 |
| 2 | rs5186 | Low | Likely | Likely pathogenic Unknown, Heterozygous | 0.214878 | This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs. | 1 |
| 3 | MTRR-I49M | Low | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.451199 | This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V. | 1 |
| 4 | MBL2-G54D | Low | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.103923 | This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C). | 1 |
| 5 | APOA5-S19W | Low | Likely | Likely pathogenic Unknown, Heterozygous | 0.0646151 | This variant, also known as APOA5*3, is associated with higher plasma triglyceride concentrations but no significant correlation with coronary artery disease itself has been found. | 1 |
| 6 | TGIF1-P83Shift | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.138889 | Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own. | 1 |
| 7 | ELAC2-S217L | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.273471 | Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total). | 1 |
| 8 | TP53-P72R | Low | Uncertain | Uncertain pathogenic Unknown, Homozygous | 0.627743 | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. | 1 |
| 9 | SP110-L425S | Low | Uncertain | Uncertain pathogenic Unknown, Homozygous | 0.863357 | This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect. | 1 |
| 10 | WFS1-R611H | Low | Uncertain | Uncertain not reviewed Recessive, Carrier (Heterozygous) | 0.400446 | This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.). | 1 |
| 11 | CPN1-G178D | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.0356014 | This rare variant (around 1% allele frequency) is hypothesized to cause carboxypeptidase N deficiency in a recessive manner, especially if combined with a more severe variant. However the findings lack statistical sigificance: only a single case study of an affected individual links this variant to causing the disease. There aren’t any follow-up in vitro studies testing whether this variant affects protein function. | 1 |
| 12 | H6PD-R453Q | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.308886 | This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease). | 1 |
| 13 | DPYD-M166V | High | Likely | Likely pharmacogenetic Unknown, Heterozygous | 0.0778955 | Associated with DPYD deficiency and poor prognosis for chemotherapy w/ 5-flurorouracil. | 1 |
| 14 | ITPA-P32T | Low | Well-established | Well-established pharmacogenetic Recessive, Carrier (Heterozygous) | 0.0609779 | This variant is associated with inosine triphosphate pyrophosphohydrolase deficiency and may be associated with an adverse reaction to thiopurine drugs (which are used as immunosuppressants). Homozygotes have no detectable ITPase activity, individuals compound heterozygous with another less severe mutation also have severely reduced enzyme activity. | 1 |
| 15 | ABCC6-R1268Q | Low | Uncertain | Uncertain pharmacogenetic Unknown, Heterozygous | 0.218907 | This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity. | 1 |
| 16 | NPC1-H215R | Low | Likely | Likely protective Complex/Other, Heterozygous | 0.295687 | This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). | 1 |
| 17 | KCNJ11-K23E | Low | Likely | Likely protective Unknown, Homozygous | 0.738148 | This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant. | 1 |
| 18 | LPL-S474X | Low | Uncertain | Uncertain protective Unknown, Heterozygous | 0.0844953 | This variant actually increases LPL enzyme activity despite creating a termination codon (see Rip J et al). It appears to be a protective variant, associated with lower triglyceride levels--although the effect is quite weak and explains only 0.5-1% of triglyceride variation. | 1 |
| 19 | MSH6-V878A | Low | Likely | Likely benign Unknown, Heterozygous | 0.00576315 | In a screen of 288 individuals suspected of having HNPCC, Wu et al. 2001 found this variant in one individual who also had a rare MLH3 variant. The publication was mainly investigating a role for MLH3 (and not this gene), and merely refers to this variant as a MSH6 (without additional evidence). These observations match the variant's general allele frequency: over 1% of individuals are carriers. Although this has been listed in Clinvar as pathogenic, if it caused this disease with high penetrance it would be extremely well-established (since the variant is relatively common). Since this is not the case, that hypothesis is effectively disproven. | 1 |
| 20 | CACNA1S-L458H | Low | Likely | Likely benign Unknown, Heterozygous | 0.27282 | Common polymorphism | 1 |
| 21 | NEFL-S472Shift | Low | Likely | Likely benign Unknown, Homozygous | Although a frameshift in this gene would be predicted to cause Charcot-Marie Neuropathy, this particular position appears to reflect a single base insertion error/mutation in the reference genome (in other words, normal individuals are always homozygous for a deletion at this position relative to reference). See chr8:24,811,060-24,811,080 annotations on UCSC. | 1 | |
| 22 | OCA2-R419Q | Low | Likely | Likely benign Unknown, Heterozygous | 0.0565161 | This variant is associated with eye color, as is OCA2 R305W. Individuals with this variant are reported to be more likely to have green/hazel eyes as opposed to blue/gray eyes. Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes). | 1 |
| 23 | MLH1-I219V | Low | Uncertain | Uncertain benign Dominant, Heterozygous | 0.239822 | Computational evidence, functional assays, and case/control studies suggest this variant is probably benign. | 1 |
| 24 | RPGRIP1-A547S | Low | Uncertain | Uncertain benign Complex/Other, Heterozygous | 0.232202 | Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal. | 1 |
| 25 | TYR-S192Y | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.270682 | This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3). | 1 |
| 26 | PCSK9-G670E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.888269 | This variant is likely benign. | 1 |
| 27 | FMO3-V257M | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0570738 | This common variant (HapMap allele frequency of 9.2%) appears to have no functional effect. OMIM has recorded it as having been seen homozygously in an individual with Trimethylaminuria, but Treacy et al. 1998 conclude it is a polymorphism. | 1 |
| 28 | F5-M413T | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0580963 | Presumed benign. This variant is not particularly rare and has not been reported to cause disease. | 1 |
| 29 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
| 30 | PKP2-L366P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.221231 | This variant is a benign polymorphism. | 1 |
| 31 | SLC45A2-L374F | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.691764 | Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma. | 1 |
| 32 | TAS2R38-I296V | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.463376 | This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC. | 1 |
| 33 | SPTA1-A970D | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0373134 | This variant, also called alpha-IIa, has been seen frequently in individuals with recessive Hereditary spherocytosis. This appears to be the result of linkage to alpha-LEPRA (a C>T substitution at position -99 of intron 30); A970D is later reported as functionally neutral. | 1 |
| 34 | TXNDC3-I338T | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0377604 | 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). | 1 |
| Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
|---|
Exome coverage: 30729135 / 33282720 = 92.33%
| Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
|---|---|---|---|---|---|---|
| 1 | AGRN | 1 | 0.076735092864125 | 5667 | 6138 | 955553-955753, 957581-957842, 970657-970704, 976045-976260, 976553-976777, 976858-977001, 977020-977063, 977075-977082, 977336-977394, 977401-977542, 978619-978837, 978918-979112, 979203-979403, 979489-979637, 979714-979716, 979734, 979740-979743, 979759-979819, 980541-980573, 980590-980609, 980617-980620, 980625, 980641, 980648-980657, 980746-980770, 980798-980829, 980849-980903, 981113-981125, 981141-981256, 981344-981456, 981540-981632, 981640-981645, 981777-982115, 982200-982253, 982264-982337, 982708-982818, 982834, 982953-982954, 982957-983033, 983043, 983056-983067, 983156-983275, 983392-983437, 983441-983455, 983465-983745, 984247-984366, 984379, 984396-984439, 984616-984818, 984826-984831, 984946-985029, 985044-985055, 985058-985069, 985080, 985090-985175, 985295-985417, 985613-985633, 985640-985709, 985807-985919, 985950-985971, 986106-986217, 986633-986749, 986833-987025, 987108-987195, 989133, 989136-989153, 989158-989161, 989180-989246, 989261-989325, 989351-989357, 989828-989874, 989889-989923, 990204-990361 |
| 2 | GABRD | 1 | 0.373804267844 | 851 | 1359 | 1950863-1950930, 1956381-1956392, 1956414-1956421, 1956432, 1956444-1956479, 1956773-1956777, 1956822-1956826, 1956979-1957092, 1957113-1957177, 1959016-1959019, 1959034-1959073, 1959594-1959595, 1959604, 1959623-1959625, 1959669-1959672, 1959685-1959686, 1959689, 1959699-1959720, 1960550-1960640, 1960652, 1960673-1960705, 1960990-1961019, 1961038-1961052, 1961071-1961111, 1961119-1961125, 1961142-1961201, 1961422-1961551, 1961564, 1961589, 1961598-1961599, 1961604, 1961627-1961655, 1961706-1961721 |
| 3 | PEX10 | 1 | 0.63710499490316 | 356 | 981 | 2337205-2337210, 2337265-2337273, 2337923-2337937, 2337955-2337983, 2337991-2338001, 2338159-2338162, 2338168-2338183, 2338256, 2338260-2338262, 2338266-2338272, 2338302-2338309, 2338324-2338329, 2339944, 2339947, 2339962-2339970, 2339974-2340021, 2340061-2340065, 2340079-2340082, 2340116, 2340147-2340156, 2340162-2340166, 2340176, 2340182-2340184, 2340195, 2340200, 2340229-2340231, 2340235-2340240, 2340268-2340297, 2343830-2343941 |
| 4 | NPHP4 | 1 | 0.91310441485634 | 372 | 4281 | 5923964-5923984, 5924410, 5924417, 5924443, 5924452, 5924456, 5924571, 5935047, 5935066-5935069, 5947369-5947370, 5947375-5947379, 5947454-5947462, 5947497-5947526, 5950969-5950972, 5950985, 6027366-6027407, 6029160-6029172, 6029200, 6029287, 6038330-6038473, 6046215-6046239, 6046252, 6046263-6046291, 6046296-6046307, 6046318-6046320, 6046331-6046348 |
| 5 | ESPN | 1 | 0.48810916179337 | 1313 | 2565 | 6485016-6485309, 6488293-6488346, 6488374-6488413, 6488428-6488437, 6488449-6488469, 6500319, 6500328-6500330, 6500352-6500375, 6500385-6500455, 6500461-6500489, 6500686-6500812, 6500836-6500867, 6500994-6500997, 6501007-6501013, 6501023-6501025, 6501036, 6501044, 6501054-6501055, 6501057, 6501067-6501073, 6501085-6501087, 6501100-6501103, 6501111, 6501115-6501124, 6505726-6505757, 6505813-6505940, 6508730-6508758, 6508789-6508802, 6508843-6508854, 6508859-6508872, 6508876, 6508885, 6508893, 6508922-6508941, 6508968-6508983, 6509022-6509024, 6509030, 6509100-6509106, 6511709-6511738, 6511763-6511799, 6511896-6511935, 6511944-6511992, 6512045-6512047, 6512050-6512053, 6512065-6512074, 6512110-6512148, 6517286-6517292, 6520064, 6520067, 6520070, 6520102-6520140, 6520171, 6520185-6520206 |
| 6 | PLEKHG5 | 1 | 0.39448102853559 | 1931 | 3189 | 6527630, 6527885-6527917, 6527961-6528076, 6528091-6528099, 6528109-6528160, 6528173, 6528183, 6528187-6528264, 6528278, 6528281, 6528291, 6528294, 6528318-6528360, 6528392-6528404, 6528470-6528490, 6528517-6528596, 6528621-6528643, 6528646, 6529115-6529133, 6529172-6529223, 6529236-6529268, 6529395-6529423, 6529431-6529471, 6529604-6529622, 6529681-6529700, 6529710-6529721, 6529725-6529736, 6530296-6530321, 6530335-6530337, 6530341-6530344, 6530347-6530356, 6530363, 6530566-6530593, 6530618, 6530624-6530647, 6530658, 6530661, 6530674-6530687, 6530799-6530853, 6530870, 6530900-6530944, 6531050-6531056, 6531081, 6531084-6531160, 6531548, 6531561-6531680, 6531689-6531697, 6531833-6531868, 6532595-6532642, 6532656-6532662, 6532666, 6533065-6533110, 6533144-6533145, 6533160-6533212, 6533331-6533332, 6533340-6533389, 6533402-6533429, 6533493-6533514, 6534074-6534124, 6534130-6534143, 6534172-6534205, 6534511-6534557, 6534568-6534597, 6534626-6534647, 6535107-6535117, 6535125-6535131, 6535134-6535141, 6535144-6535150, 6535181-6535198, 6535552-6535554, 6535558, 6535999-6536054, 6536091-6536096, 6537590-6537591, 6537597, 6537617-6537645, 6537653-6537718, 6556553-6556629, 6557380-6557383 |
| 7 | PEX14 | 1 | 0.62081128747795 | 430 | 1134 | 10683159-10683171, 10684418-10684419, 10684425-10684494, 10687359-10687381, 10687415, 10689604-10689645, 10689669-10689750, 10689762-10689768, 10689807-10689818, 10689853-10689929, 10689944-10690044 |
| 8 | TARDBP | 1 | 0.93172690763052 | 85 | 1245 | 11082258-11082298, 11082339-11082362, 11082519-11082538 |
| 9 | MASP2 | 1 | 0.70014556040757 | 618 | 2061 | 11090841, 11094885-11094894, 11094935, 11097776-11097814, 11102949-11103019, 11103396-11103571, 11103581-11103592, 11105465-11105527, 11105538-11105540, 11105549-11105555, 11106620-11106650, 11106666, 11106678, 11106763, 11106770-11106775, 11106778-11106782, 11106785, 11106948-11107017, 11107029-11107035, 11107040, 11107065-11107108, 11107115-11107176, 11107260-11107264 |
| 10 | MTHFR | 1 | 0.98274987316083 | 34 | 1971 | 11853982-11853999, 11854132-11854134, 11855259-11855269, 11861394, 11863018 |
| 11 | PLOD1 | 1 | 0.67948717948718 | 700 | 2184 | 11994837-11994860, 11994868-11994885, 12008033-12008052, 12009921, 12010495-12010499, 12012731, 12012734, 12014887-12014892, 12014921, 12014927, 12017071, 12017986, 12017990, 12018587-12018610, 12018678, 12020718-12020726, 12020757-12020758, 12020763, 12020796-12020802, 12020822, 12023597, 12023625, 12023628-12023636, 12023639, 12023671-12023680, 12024232-12024247, 12024252, 12024278-12024320, 12024325-12024329, 12024334-12024336, 12024339-12024340, 12024351-12024357, 12024701-12024749, 12024767, 12024774-12024789, 12024822-12024842, 12025537-12025545, 12025551-12025555, 12025577-12025612, 12025628-12025634, 12026308-12026373, 12027052-12027058, 12027088, 12027094, 12027100-12027102, 12027140-12027148, 12030727-12030873, 12032929, 12032972, 12032980, 12033008-12033018, 12034715, 12034733-12034808, 12034839, 12034851-12034855 |
| 12 | MFN2 | 1 | 0.99296394019349 | 16 | 2274 | 12049395-12049399, 12065906-12065907, 12065912-12065915, 12065980-12065982, 12065987-12065988 |
| 13 | CLCNKA | 1 | 0.53972868217054 | 950 | 2064 | 16350342-16350344, 16350350-16350352, 16350357, 16351266-16351281, 16351319, 16351362-16351383, 16352674, 16352677, 16353244, 16353820, 16353824-16353827, 16353830-16353834, 16353871-16353917, 16354362-16354397, 16354513-16354515, 16354527, 16354564-16354582, 16354590-16354614, 16355256-16355283, 16355291, 16355294, 16355308-16355332, 16355621-16355644, 16355650-16355683, 16355705-16355740, 16355781-16355783, 16355789-16355794, 16356259, 16356262, 16356268-16356293, 16356487-16356489, 16356495-16356570, 16356956-16357023, 16357030-16357130, 16357139-16357169, 16358216, 16358240-16358314, 16358320-16358338, 16358698-16358744, 16358751-16358786, 16358938-16358951, 16358959-16358994, 16359010, 16359667-16359699, 16359707-16359710, 16359729, 16360106-16360116, 16360137-16360153 |
| 14 | CLCNKB | 1 | 0.70639534883721 | 606 | 2064 | 16371002-16371035, 16371052-16371087, 16372053-16372072, 16372094-16372096, 16372099-16372100, 16372110-16372113, 16372130, 16372164-16372170, 16373030-16373050, 16373124, 16374420, 16374430, 16374434, 16374438, 16374441, 16374463, 16374533, 16374851, 16375031-16375033, 16375038-16375053, 16375056-16375064, 16376142, 16376407-16376409, 16377023, 16377027, 16377043, 16377047, 16377079-16377084, 16377088, 16377370-16377383, 16377419-16377447, 16377459-16377492, 16377978-16377992, 16378009, 16378012, 16378015-16378020, 16378025, 16378205-16378238, 16378307-16378315, 16378693-16378713, 16378730-16378782, 16378792, 16378796-16378801, 16378807-16378812, 16378884-16378906, 16380173, 16380189-16380215, 16380222-16380226, 16380243-16380244, 16380252-16380267, 16381930-16381943, 16381972-16382018, 16382170-16382185, 16382222-16382231, 16382237-16382253, 16382961, 16383396-16383411 |
| 15 | ATP13A2 | 1 | 0.82895850973751 | 606 | 3543 | 17312743, 17312752-17312763, 17312767-17312776, 17312803-17312841, 17312992, 17312997, 17313000-17313003, 17313008, 17313090-17313091, 17313099-17313100, 17313302-17313307, 17313343, 17313377-17313390, 17313397-17313400, 17313587-17313595, 17313604-17313608, 17313618-17313629, 17313646, 17313654, 17313656-17313675, 17313689-17313698, 17313715, 17314704-17314729, 17314907, 17314932-17314934, 17314942, 17314945-17314950, 17316386-17316392, 17318609-17318624, 17318841-17318856, 17319011, 17320124-17320125, 17320168-17320173, 17320273-17320279, 17320311-17320330, 17322471-17322494, 17322536, 17322573-17322618, 17322632, 17322790-17322795, 17322881-17322898, 17322908-17322926, 17322952-17322953, 17322964-17322991, 17323549-17323600, 17323616, 17323624, 17323627-17323637, 17326506-17326529, 17326541-17326566, 17326750-17326792, 17327017, 17328539-17328552, 17331227-17331233, 17332046-17332047, 17338224-17338233 |
| 16 | ALPL | 1 | 0.99238095238095 | 12 | 1575 | 21889661-21889664, 21890544-21890551 |
| 17 | HSPG2 | 1 | 0.92956891317547 | 928 | 13176 | 22149835, 22149838-22149849, 22149897-22149901, 22149928-22149954, 22150199-22150202, 22150662-22150669, 22150829-22150838, 22151030-22151061, 22151267-22151271, 22154356-22154358, 22154529-22154535, 22154568-22154604, 22155398, 22155466-22155473, 22155502-22155520, 22155883-22155889, 22155918-22155930, 22155937, 22155955-22155958, 22155982-22156006, 22165460-22165463, 22167605-22167607, 22167653-22167657, 22167757-22167778, 22168101-22168130, 22168842-22168856, 22169289-22169293, 22170754-22170792, 22172729-22172748, 22172957, 22174515-22174521, 22175193-22175198, 22175284, 22175516-22175524, 22176933-22176961, 22178155, 22178189, 22179535-22179536, 22181410-22181428, 22181445, 22182034-22182038, 22186059-22186066, 22186338-22186341, 22186384-22186393, 22186417-22186421, 22186451-22186461, 22190688, 22191394-22191398, 22191447-22191460, 22192213, 22192241-22192248, 22198840-22198852, 22199113-22199114, 22199156-22199157, 22199159-22199164, 22199208-22199228, 22199490-22199528, 22200899-22200923, 22200960-22200978, 22200984-22200985, 22200989, 22200994, 22202148-22202152, 22203007-22203009, 22206613, 22206699-22206715, 22206878-22206880, 22207021, 22207171-22207175, 22207250-22207290, 22207865, 22207917, 22211087-22211106, 22211163-22211167, 22211266-22211272, 22211285, 22211409-22211411, 22211603, 22211829, 22211874-22211885, 22211916-22211932, 22213708-22213721, 22213965-22213967, 22214018, 22214110, 22214114-22214115, 22214126-22214127, 22214458-22214486, 22216620, 22216930-22216932, 22216957, 22216960-22216965, 22217078-22217082, 22263648-22263710 |
| 18 | WNT4 | 1 | 0.83522727272727 | 174 | 1056 | 22456117-22456121, 22456148, 22456151, 22456153-22456179, 22456221-22456264, 22456321, 22456327-22456344, 22469339-22469415 |
| 19 | HMGCL | 1 | 0.96932515337423 | 30 | 978 | 24134720-24134721, 24134755-24134777, 24151873, 24151889, 24151900-24151902 |
| 20 | FUCA1 | 1 | 0.96859386152748 | 44 | 1401 | 24186345-24186347, 24186354, 24189723, 24194453-24194472, 24194508, 24194511, 24194679, 24194718-24194720, 24194727-24194732, 24194737-24194742, 24194773 |
| 21 | LDLRAP1 | 1 | 0.92880258899676 | 66 | 927 | 25870217-25870277, 25889632, 25889635-25889637, 25893430 |
| 22 | SEPN1 | 1 | 0.87410071942446 | 210 | 1668 | 26126722-26126904, 26136176, 26136290-26136303, 26139251-26139262 |
| 23 | KCNQ4 | 1 | 0.85153256704981 | 310 | 2088 | 41249766-41249979, 41249993-41250073, 41250076-41250079, 41284253-41284257, 41284306-41284309, 41284314, 41296972 |
| 24 | CLDN19 | 1 | 0.99111111111111 | 6 | 675 | 43201557-43201562 |
| 25 | LEPRE1 | 1 | 0.97014925373134 | 66 | 2211 | 43212390-43212396, 43212402-43212403, 43213952, 43213956-43213969, 43215922-43215929, 43215947, 43215990-43216007, 43218230, 43232402-43232409, 43232498-43232499, 43232602-43232605 |
| 26 | SLC2A1 | 1 | 0.99053414469236 | 14 | 1479 | 43424305-43424318 |
| 27 | MUTYH | 1 | 0.9993626513703 | 1 | 1569 | 45797193 |
| 28 | MMACHC | 1 | 0.99882214369847 | 1 | 849 | 45974831 |
| 29 | STIL | 1 | 0.99974140160331 | 1 | 3867 | 47767947 |
| 30 | DHCR24 | 1 | 0.99097356544165 | 14 | 1551 | 55352762-55352775 |
| 31 | BSND | 1 | 0.99896157840083 | 1 | 963 | 55464860 |
| 32 | PCSK9 | 1 | 0.94083694083694 | 123 | 2079 | 55505520-55505531, 55505553-55505555, 55505668, 55505705-55505709, 55509666-55509682, 55512284-55512314, 55518038, 55521693-55521699, 55521728-55521731, 55521735, 55521738, 55521743, 55521754-55521757, 55521829-55521851, 55524221, 55524232-55524235, 55524237, 55524259, 55524277, 55524289-55524292 |
| 33 | CTH | 1 | 0.9991789819376 | 1 | 1218 | 70895510 |
| 34 | ABCA4 | 1 | 0.9997068308414 | 2 | 6822 | 94528169-94528170 |
| 35 | COL11A1 | 1 | 0.99376947040498 | 34 | 5457 | 103363700, 103364236-103364268 |
| 36 | GSTM1 | 1 | 0.53120243531202 | 308 | 657 | 110230496-110230531, 110230792-110230797, 110230854, 110230867, 110231295-110231316, 110231353, 110231688-110231694, 110231714, 110231721-110231728, 110231749-110231750, 110231854-110231947, 110232923-110232948, 110232959-110232988, 110233076-110233143, 110233155, 110233159-110233161, 110233173 |
| 37 | VANGL1 | 1 | 0.99809523809524 | 3 | 1575 | 116226649, 116228057-116228058 |
| 38 | NOTCH2 | 1 | 0.98705501618123 | 96 | 7416 | 120539665-120539714, 120539778-120539784, 120539913-120539939, 120548025, 120548051, 120548055, 120548091-120548097, 120572547, 120572572 |
| 39 | PRPF3 | 1 | 0.98879142300195 | 23 | 2052 | 150307614-150307615, 150307618-150307623, 150312944, 150315906, 150315919-150315928, 150318575, 150318581, 150325396 |
| 40 | FLG | 1 | 0.96799606105367 | 390 | 12186 | 152276487-152276493, 152277432, 152278431-152278437, 152279378-152279410, 152280151-152280152, 152280358-152280381, 152280601, 152280608, 152280614, 152281122-152281123, 152281322, 152281350-152281356, 152281953-152281954, 152282093, 152282097-152282105, 152282114, 152282258-152282261, 152282271, 152282286-152282287, 152282293, 152282871-152282877, 152283131, 152283198, 152283233-152283275, 152283502-152283536, 152284004-152284051, 152284239, 152284500-152284527, 152285053-152285055, 152285209-152285255, 152285292-152285294, 152285302, 152285575, 152286026-152286032, 152286126-152286137, 152286144-152286182, 152286191-152286193, 152286329, 152286465 |
| 41 | CHRNB2 | 1 | 0.9688535453943 | 47 | 1509 | 154543955-154543959, 154544174-154544175, 154544178, 154544342-154544373, 154544397, 154544407-154544412 |
| 42 | GBA | 1 | 0.99916457811195 | 1 | 1197 | 155184416 |
| 43 | PKLR | 1 | 0.98550724637681 | 25 | 1725 | 155269907, 155269913, 155269973-155269984, 155269987-155269992, 155270038-155270042 |
| 44 | LMNA | 1 | 0.95943562610229 | 23 | 567 | 156104997-156105004, 156105045, 156105903-156105912, 156106155-156106158 |
| 45 | LMNA | 1 | 0.97092731829574 | 58 | 1995 | 156084739-156084744, 156084995-156084997, 156104319, 156104744-156104745, 156104997-156105004, 156105045, 156105903-156105912, 156106155-156106158, 156107533-156107534, 156108299, 156108316, 156108325-156108343 |
| 46 | NTRK1 | 1 | 0.9715600167294 | 68 | 2391 | 156830740-156830742, 156830747, 156830756-156830759, 156830792, 156834167, 156843441-156843477, 156843615-156843625, 156843663-156843668, 156846212-156846215 |
| 47 | NDUFS2 | 1 | 0.9992816091954 | 1 | 1392 | 161176290 |
| 48 | F5 | 1 | 0.9923595505618 | 51 | 6675 | 169510269-169510275, 169510337-169510343, 169510377-169510383, 169510475, 169510499-169510527 |
| 49 | DARS2 | 1 | 0.99896800825593 | 2 | 1938 | 173807396-173807397 |
| 50 | RNASEL | 1 | 0.99955076370171 | 1 | 2226 | 182555105 |
| 51 | CFH | 1 | 0.99972943722944 | 1 | 3696 | 196712596 |
| 52 | CFHR1 | 1 | 0.99093655589124 | 9 | 993 | 196797204, 196797214, 196797238, 196797244, 196797292, 196799637, 196799679, 196801005, 196801023 |
| 53 | CACNA1S | 1 | 0.98648167911775 | 76 | 5622 | 201081316-201081323, 201081366-201081433 |
| 54 | PKP1 | 1 | 0.99495644199908 | 11 | 2181 | 201282643-201282653 |
| 55 | LAMB3 | 1 | 0.99801079852231 | 7 | 3519 | 209791804-209791810 |
| 56 | PSEN2 | 1 | 0.9977728285078 | 3 | 1347 | 227071444, 227071525, 227071569 |
| 57 | ADCK3 | 1 | 0.97942386831276 | 40 | 1944 | 227152913, 227152916-227152928, 227153428-227153429, 227169804-227169805, 227169840-227169849, 227171796-227171807 |
| 58 | GJC2 | 1 | 0.072727272727273 | 1224 | 1320 | 228345460-228345462, 228345474-228345531, 228345567-228345584, 228345589-228345606, 228345611-228345653, 228345656-228345691, 228345705-228345765, 228345770-228345788, 228345792-228345824, 228345838-228346489, 228346497-228346779 |
| 59 | ACTA1 | 1 | 0.90740740740741 | 105 | 1134 | 229567561-229567564, 229567843, 229567846, 229567905, 229567920, 229567927-229567932, 229568018-229568026, 229568037, 229568050-229568101, 229568116, 229568120, 229568126-229568129, 229568160-229568166, 229568170-229568178, 229568327-229568330, 229568345, 229568356-229568357 |
| 60 | GNPAT | 1 | 0.9985315712188 | 3 | 2043 | 231402136-231402138 |
| 61 | RYR2 | 1 | 0.99966451959206 | 5 | 14904 | 237729971-237729972, 237982450-237982452 |
| 62 | IL2RA | 10 | 0.96459096459096 | 29 | 819 | 6060061, 6063442-6063463, 6063572, 6063614-6063618 |
| 63 | GATA3 | 10 | 0.99700374531835 | 4 | 1335 | 8100743-8100746 |
| 64 | PTF1A | 10 | 0.68996960486322 | 306 | 987 | 23481460, 23481513-23481543, 23481578-23481600, 23481652-23481653, 23481656-23481667, 23481695-23481730, 23481737-23481786, 23481808-23481878, 23481894-23481910, 23481916-23481918, 23481932-23481952, 23481975-23481979, 23481991-23481992, 23482010, 23482093-23482121, 23482154, 23482170 |
| 65 | PDSS1 | 10 | 0.99919871794872 | 1 | 1248 | 26986669 |
| 66 | RET | 10 | 0.90642750373692 | 313 | 3345 | 43572707-43572775, 43595937-43595938, 43595957-43595968, 43596001-43596002, 43596039-43596051, 43596143, 43597849, 43597852, 43597856, 43597914, 43598003-43598005, 43598033-43598062, 43600400-43600404, 43600442, 43600565-43600608, 43600624-43600641, 43601898-43601899, 43601912, 43601926, 43604490-43604496, 43606672, 43606687, 43606851-43606861, 43609932-43609957, 43610119, 43610147, 43614979, 43614983, 43614991, 43615018, 43615021-43615024, 43615027-43615028, 43615062-43615065, 43615145-43615178, 43619119-43619122, 43619239-43619243 |
| 67 | CHAT | 10 | 0.98531375166889 | 33 | 2247 | 50822354-50822375, 50822414-50822417, 50857576-50857582 |
| 68 | PCDH15 | 10 | 0.99932076753269 | 4 | 5889 | 55973696-55973699 |
| 69 | NODAL | 10 | 0.99904214559387 | 1 | 1044 | 72201407 |
| 70 | SLC29A3 | 10 | 0.99579831932773 | 6 | 1428 | 73082560-73082563, 73082706-73082707 |
| 71 | CDH23 | 10 | 0.96708432776452 | 331 | 10056 | 73439193-73439205, 73442256-73442257, 73455220, 73455273, 73461779-73461792, 73461887, 73461967-73461968, 73462306-73462314, 73462363-73462373, 73462400-73462429, 73462440-73462451, 73464748-73464781, 73464795-73464797, 73464807-73464810, 73464868-73464887, 73466712-73466714, 73466788-73466789, 73466796-73466798, 73468914-73468943, 73472506-73472509, 73472559, 73490322-73490324, 73490330-73490332, 73492127-73492132, 73494092, 73494095, 73494098, 73500668, 73500675, 73501466, 73501487, 73501565-73501578, 73501584, 73501587, 73501620-73501625, 73501628-73501633, 73501637-73501640, 73501648, 73501666, 73537484-73537509, 73537540-73537552, 73537556-73537563, 73537568-73537569, 73537595, 73537946-73537947, 73550111-73550127, 73571156-73571158, 73572560-73572565 |
| 72 | PSAP | 10 | 0.98666666666667 | 21 | 1575 | 73579570-73579590 |
| 73 | RPS24 | 10 | 0.99195402298851 | 7 | 870 | 79795367-79795373 |
| 74 | LDB3 | 10 | 0.98672161172161 | 29 | 2184 | 88441513-88441520, 88466338, 88466347-88466352, 88476170-88476171, 88476214, 88476475-88476485 |
| 75 | BMPR1A | 10 | 0.99812382739212 | 3 | 1599 | 88683474-88683476 |
| 76 | GLUD1 | 10 | 0.99582587954681 | 7 | 1677 | 88854401-88854402, 88854450-88854454 |
| 77 | PLCE1 | 10 | 0.99985526125344 | 1 | 6909 | 96005994 |
| 78 | HPS1 | 10 | 0.93969610636277 | 127 | 2106 | 100177326-100177429, 100177942-100177954, 100178005-100178014 |
| 79 | CPN1 | 10 | 0.98910675381264 | 15 | 1377 | 101802206-101802220 |
| 80 | C10orf2 | 10 | 0.97372262773723 | 54 | 2055 | 102748120-102748126, 102749414-102749424, 102749456-102749469, 102749495-102749503, 102750244-102750255, 102750258 |
| 81 | FBXW4 | 10 | 0.96933010492333 | 38 | 1239 | 103371141-103371145, 103371157, 103371452-103371464, 103371498, 103372172, 103454301-103454306, 103454318-103454325, 103454358-103454360 |
| 82 | HPS6 | 10 | 0.99570446735395 | 10 | 2328 | 103825404-103825412, 103825483 |
| 83 | SUFU | 10 | 0.99037800687285 | 14 | 1455 | 104352418, 104357036-104357042, 104359224-104359229 |
| 84 | CYP17A1 | 10 | 0.98231827111984 | 27 | 1527 | 104590459-104590461, 104590573-104590582, 104590695-104590696, 104592295, 104592795-104592797, 104592800-104592805, 104595102, 104596860 |
| 85 | COL17A1 | 10 | 0.9971072541166 | 13 | 4494 | 105816897-105816909 |
| 86 | EMX2 | 10 | 0.98945981554677 | 8 | 759 | 119302946-119302953 |
| 87 | BAG3 | 10 | 0.98842592592593 | 20 | 1728 | 121411201-121411205, 121411212, 121411341-121411354 |
| 88 | HTRA1 | 10 | 0.83160083160083 | 243 | 1443 | 124221169-124221264, 124221304-124221317, 124221328-124221329, 124221332-124221333, 124221344-124221396, 124221411-124221418, 124221467-124221517, 124266221-124266233, 124266350-124266353 |
| 89 | ACADSB | 10 | 0.99923017705928 | 1 | 1299 | 124768547 |
| 90 | OAT | 10 | 0.99924242424242 | 1 | 1320 | 126086516 |
| 91 | UROS | 10 | 0.98872180451128 | 9 | 798 | 127477437-127477445 |
| 92 | HRAS | 11 | 0.45087719298246 | 313 | 570 | 532636-532666, 532669-532676, 532707-532755, 533453-533494, 533500-533511, 533538-533576, 533766-533767, 533784, 533812-533858, 533861, 533937, 534212-534228, 534239-534250, 534262-534310, 534320-534321 |
| 93 | TALDO1 | 11 | 0.70315581854043 | 301 | 1014 | 747482-747518, 747527-747578, 755981, 755984, 760175-760191, 763344-763456, 763475, 763813-763814, 763829, 763839-763840, 763845-763853, 763891-763944, 764335-764345 |
| 94 | SLC25A22 | 11 | 0.32098765432099 | 660 | 972 | 791915-791959, 792004-792037, 792051-792068, 792142-792154, 792189-792217, 792304-792458, 792559-792727, 792870-792952, 792967-792988, 793529-793556, 793563, 793583-793585, 794458, 794463-794466, 794776-794794, 794799, 794824, 794865, 794880, 794884, 794891-794901, 794987-795006 |
| 95 | PNPLA2 | 11 | 0.4950495049505 | 765 | 1515 | 819719-819752, 819760-819905, 821670, 821678, 821682-821694, 821714-821742, 821958-821963, 821987-822019, 822444, 822481-822483, 822501-822502, 822505, 822571-822598, 823576-823587, 823694-823697, 823704-823716, 823727, 823742-823743, 823746-823751, 823786-823798, 823809-823852, 823998-824011, 824019, 824034-824038, 824043, 824068-824069, 824072-824073, 824089-824130, 824314-824341, 824354-824374, 824393-824397, 824409-824411, 824417-824436, 824523-824565, 824590-824594, 824598-824600, 824618, 824628-824703, 824726, 824729, 824732-824736, 824740, 824762-824806, 824816-824862 |
| 96 | CTSD | 11 | 0.22356739305892 | 962 | 1239 | 1774733-1774787, 1774806, 1774809-1774810, 1774834, 1774848-1774900, 1775033-1775104, 1775117-1775131, 1775224-1775368, 1776143-1776147, 1776211-1776218, 1776242-1776258, 1778554-1778703, 1778724-1778733, 1778758-1778766, 1778770-1778786, 1780199-1780207, 1780230-1780247, 1780257-1780304, 1780746-1780827, 1780837-1780869, 1782539-1782673, 1782683-1782698, 1785022-1785069, 1785077-1785089 |
| 97 | TNNI2 | 11 | 0.76684881602914 | 128 | 549 | 1861635-1861664, 1861758-1861763, 1861774, 1861790-1861797, 1861844-1861858, 1862051-1862073, 1862087-1862089, 1862261-1862266, 1862321-1862327, 1862344-1862348, 1862370, 1862380-1862387, 1862425-1862437, 1862709, 1862712 |
| 98 | TNNT3 | 11 | 0.25868725868726 | 576 | 777 | 1944118-1944119, 1944787-1944802, 1946329-1946336, 1946342-1946346, 1947925-1947939, 1950350-1950373, 1951040-1951058, 1953727, 1953731, 1954951-1955067, 1955161-1955168, 1955174-1955238, 1955562-1955675, 1955797-1955800, 1955813-1955885, 1956059-1956071, 1956076-1956078, 1956108, 1956128-1956149, 1958193-1958206, 1958218, 1958221, 1959668-1959716 |
| 99 | H19 | 11 | 0.88702147525677 | 121 | 1071 | 2017748-2017787, 2017801, 2017828-2017849, 2017948-2017957, 2017989-2018027, 2018078-2018081, 2018336, 2018353, 2018361-2018363 |
| 100 | IGF2 | 11 | 0.035161744022503 | 686 | 711 | 2154217-2154453, 2154747-2154871, 2154886-2154895, 2156597-2156759, 2161365-2161515 |
| 101 | TH | 11 | 0.07047619047619 | 1464 | 1575 | 2185463-2185622, 2186462-2186595, 2186898-2186993, 2187232-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188262, 2188665-2188715, 2189096-2189163, 2189321-2189373, 2189390-2189409, 2189721-2189883, 2189893-2189895, 2190880-2190946, 2190967-2191101, 2191920-2192000, 2192927-2192949, 2192982 |
| 102 | KCNQ1 | 11 | 0.78188084687346 | 443 | 2031 | 2466329-2466434, 2466442-2466714, 2593255-2593311, 2593338, 2594187-2594190, 2790102, 2869216 |
| 103 | CDKN1C | 11 | 0.026288117770768 | 926 | 951 | 2905234-2905273, 2905279, 2905300-2905364, 2905900-2906719 |
| 104 | HBD | 11 | 0.98423423423423 | 7 | 444 | 5255652-5255658 |
| 105 | SMPD1 | 11 | 0.99367088607595 | 12 | 1896 | 6411936-6411947 |
| 106 | SBF2 | 11 | 0.99873873873874 | 7 | 5550 | 9868508-9868514 |
| 107 | ABCC8 | 11 | 0.99009692372524 | 47 | 4746 | 17498266-17498308, 17498320-17498323 |
| 108 | USH1C | 11 | 0.99962962962963 | 1 | 2700 | 17565840 |
| 109 | WT1 | 11 | 0.91763191763192 | 128 | 1554 | 32449519, 32456371, 32456590-32456598, 32456615-32456662, 32456678-32456690, 32456697-32456747, 32456752-32456754, 32456760, 32456763 |
| 110 | ALX4 | 11 | 0.99676375404531 | 4 | 1236 | 44286712-44286715 |
| 111 | SLC35C1 | 11 | 0.98579545454545 | 15 | 1056 | 45827465, 45827825-45827826, 45827829, 45832500-45832506, 45832567-45832568, 45832825-45832826 |
| 112 | PEX16 | 11 | 0.51777137367915 | 502 | 1041 | 45931640-45931669, 45931673-45931675, 45931679, 45931687-45931690, 45931718-45931728, 45932449-45932503, 45935403-45935442, 45935682-45935689, 45935719-45935741, 45935867-45935875, 45935902-45935995, 45936155-45936162, 45937071-45937114, 45937254-45937256, 45937267-45937270, 45937299-45937312, 45937354-45937387, 45937803-45937820, 45939009-45939023, 45939026-45939031, 45939253-45939301, 45939334-45939362 |
| 113 | F2 | 11 | 0.99250936329588 | 14 | 1869 | 46747467, 46747481, 46747484-46747486, 46747497-46747499, 46748057-46748062 |
| 114 | MYBPC3 | 11 | 0.85045751633987 | 572 | 3825 | 47355145-47355147, 47357519-47357520, 47364204, 47367825-47367834, 47367848-47367874, 47367893, 47367920-47367921, 47368178-47368195, 47368981-47369002, 47369210-47369231, 47369408-47369411, 47369432-47369450, 47370004-47370023, 47370041-47370042, 47370047-47370092, 47371325-47371347, 47371398-47371445, 47371565-47371663, 47372053-47372063, 47372105-47372166, 47372790-47372807, 47372831-47372833, 47372861, 47372872-47372884, 47372933-47372944, 47372971-47373033, 47373056, 47374180-47374198 |
| 115 | SLC39A13 | 11 | 0.86111111111111 | 155 | 1116 | 47431763-47431764, 47431819-47431826, 47431842, 47433916-47433918, 47434966-47434999, 47435005-47435017, 47435237, 47435996-47436016, 47436328-47436331, 47436398-47436444, 47436596-47436611, 47436693-47436696, 47436871 |
| 116 | RAPSN | 11 | 0.73123486682809 | 333 | 1239 | 47459526-47459570, 47459581-47459590, 47460283-47460292, 47460306, 47460317-47460347, 47460369-47460416, 47460440-47460450, 47462762-47462763, 47463177-47463178, 47463238-47463268, 47463403-47463405, 47463408-47463409, 47463427-47463457, 47463465-47463473, 47464241-47464296, 47469536, 47469541, 47469550, 47469573-47469574, 47469592-47469594, 47469671, 47470325-47470330, 47470412-47470415, 47470429-47470430, 47470440-47470450, 47470490-47470497, 47470507 |
| 117 | SERPING1 | 11 | 0.99467731204258 | 8 | 1503 | 57381930-57381937 |
| 118 | BEST1 | 11 | 0.99943117178612 | 1 | 1758 | 61719340 |
| 119 | SLC22A12 | 11 | 0.59987966305656 | 665 | 1662 | 64359030-64359032, 64359094-64359133, 64359146-64359153, 64359159, 64359165, 64359216-64359223, 64359286, 64359349-64359365, 64359382-64359384, 64359392-64359400, 64359410-64359415, 64360258-64360333, 64360877-64360885, 64360921-64360933, 64360936-64360939, 64360956-64360967, 64361025, 64361029, 64361108-64361123, 64361130, 64361160-64361174, 64361179-64361185, 64361196-64361243, 64361274-64361275, 64365988-64366009, 64366014, 64366018-64366034, 64366052-64366068, 64366098-64366111, 64366280-64366282, 64366308-64366315, 64366321, 64366340, 64366344, 64366371-64366377, 64367148-64367340, 64367349-64367352, 64367361-64367362, 64367853-64367895, 64368240, 64368246, 64368253, 64368264-64368287, 64368292, 64368297 |
| 120 | PYGM | 11 | 0.70660340055358 | 742 | 2529 | 64514216, 64514219-64514220, 64517911, 64517914-64517922, 64517938, 64517975, 64517987-64517988, 64517991-64517992, 64518850, 64518896-64518906, 64519076, 64519396-64519410, 64519453-64519454, 64519458, 64520545-64520569, 64520582-64520590, 64520593-64520597, 64520991-64521070, 64521081-64521118, 64521127-64521134, 64521351-64521353, 64521366-64521371, 64521379, 64521414-64521421, 64521437-64521438, 64521452-64521461, 64521489-64521492, 64521495-64521497, 64521725-64521750, 64521759-64521804, 64522199-64522205, 64522241-64522273, 64522296, 64522300-64522308, 64522811, 64522941, 64523005-64523030, 64525251-64525275, 64525280, 64525284-64525285, 64525311-64525317, 64525335, 64525721-64525722, 64525743-64525821, 64525920-64525921, 64525926, 64525954-64525957, 64526075-64526104, 64526129-64526176, 64527128-64527167, 64527188-64527224, 64527276, 64527282-64527307, 64527323-64527356 |
| 121 | MEN1 | 11 | 0.88311688311688 | 216 | 1848 | 64572037, 64572044, 64572106, 64572118-64572131, 64572134-64572138, 64572189-64572216, 64572239-64572240, 64572279, 64572540, 64572557, 64572561, 64572586, 64572590-64572591, 64572602, 64572615, 64572619, 64573162-64573168, 64573174, 64573206, 64573221, 64573723, 64575024-64575027, 64575030, 64577170, 64577175-64577177, 64577236-64577282, 64577310-64577355, 64577376-64577380, 64577451-64577453, 64577457-64577473, 64577489, 64577502, 64577559, 64577564, 64577570-64577581 |
| 122 | EFEMP2 | 11 | 0.93093093093093 | 92 | 1332 | 65634504-65634528, 65635860-65635892, 65636091-65636095, 65637625, 65638014-65638016, 65638645-65638646, 65638714, 65639773-65639778, 65639804-65639808, 65639815-65639825 |
| 123 | BBS1 | 11 | 0.95398428731762 | 82 | 1782 | 66278139-66278148, 66281920-66281923, 66287088-66287089, 66287143-66287145, 66287182-66287186, 66291195-66291227, 66291332-66291342, 66298433-66298446 |
| 124 | SPTBN2 | 11 | 0.81095775826014 | 1356 | 7173 | 66453401-66453404, 66453490, 66453505-66453515, 66454617-66454620, 66460833-66460838, 66468005-66468015, 66468051-66468096, 66468141-66468142, 66468151-66468247, 66468271-66468315, 66468327-66468332, 66468367, 66468370-66468374, 66468388-66468390, 66468399-66468400, 66468455-66468477, 66468518-66468534, 66468576-66468585, 66468602, 66468698-66468704, 66468736-66468753, 66469095-66469122, 66469155-66469180, 66472069-66472082, 66472138-66472144, 66472155-66472197, 66472225-66472243, 66472267-66472327, 66472373-66472375, 66472391, 66472403, 66472438-66472467, 66472492-66472547, 66472611-66472638, 66472658-66472671, 66472704-66472725, 66472745-66472747, 66472760-66472765, 66472768, 66472847, 66472851, 66472864-66472868, 66472878-66472896, 66473155-66473179, 66473238-66473245, 66475027-66475062, 66475076, 66475086-66475143, 66475155-66475165, 66475192-66475238, 66475633, 66475642-66475750, 66475764-66475770, 66476376-66476403, 66476432-66476451, 66476467-66476490, 66478053-66478098, 66478128-66478134, 66478168-66478170, 66478193-66478240, 66478419-66478455, 66478464-66478481, 66481118-66481142, 66481169-66481173, 66481215-66481217, 66481787-66481796, 66481822-66481840, 66482745-66482749, 66483321-66483323, 66483356-66483389, 66483426-66483434 |
| 125 | PC | 11 | 0.82131750070681 | 632 | 3537 | 66616406-66616408, 66616473-66616474, 66616542, 66617229-66617248, 66617271, 66617288-66617289, 66617292, 66617326, 66617430-66617464, 66617691-66617710, 66617760, 66617861-66617863, 66618170, 66618191, 66618196-66618197, 66618251-66618258, 66618264-66618298, 66618325, 66618373-66618388, 66618528, 66618535-66618544, 66618563-66618583, 66618652-66618659, 66619382-66619385, 66619981, 66620009-66620053, 66620067-66620073, 66620076-66620084, 66620095-66620106, 66620131, 66620247-66620284, 66620847, 66620850, 66631248-66631295, 66631330-66631347, 66631371-66631391, 66633673-66633711, 66636330, 66637806, 66637810-66637841, 66638600-66638609, 66638653-66638668, 66638807-66638829, 66638844-66638853, 66638907, 66638942-66638951, 66639162-66639163, 66639172, 66639190-66639239, 66639303-66639305, 66639503-66639534, 66639605 |
| 126 | CABP4 | 11 | 0.43115942028986 | 471 | 828 | 67222895-67222899, 67222948, 67222976-67222986, 67223021-67223025, 67223031, 67223061-67223139, 67223156-67223223, 67223243-67223259, 67223659-67223689, 67223783-67223813, 67223845-67223878, 67223887, 67223890-67223913, 67225095-67225141, 67225842-67225882, 67225893-67225902, 67225905, 67225912-67225948, 67225974-67225989, 67226120-67226130 |
| 127 | AIP | 11 | 0.1570996978852 | 837 | 993 | 67250630-67250660, 67250700-67250706, 67254477-67254487, 67254503-67254507, 67254544, 67254549-67254573, 67254596-67254637, 67254649-67254656, 67256738-67256874, 67256880-67256924, 67257509-67257685, 67257787-67257928, 67258259-67258464 |
| 128 | NDUFS8 | 11 | 0.39020537124803 | 386 | 633 | 67799627-67799676, 67799770-67799803, 67800390-67800421, 67800438, 67800453-67800467, 67800578-67800602, 67800650-67800736, 67803720-67803743, 67803765, 67803784-67803823, 67803831-67803833, 67803838-67803848, 67803937-67803948, 67803974-67803979, 67804010, 67804017-67804060 |
| 129 | TCIRG1 | 11 | 0.40553549939832 | 1482 | 2493 | 67808739-67808740, 67808749-67808752, 67808761, 67808768-67808820, 67808823, 67808842, 67808850, 67809222-67809248, 67809275-67809278, 67809294, 67810110-67810186, 67810195-67810315, 67810413-67810418, 67810442-67810449, 67810463-67810498, 67810838-67810876, 67810885-67810899, 67810914-67810937, 67810943-67810955, 67810962, 67811038, 67811042-67811054, 67811062-67811068, 67811081-67811084, 67811089, 67811095-67811102, 67811304-67811374, 67811599-67811612, 67811622-67811660, 67811711-67811808, 67812435-67812439, 67812451, 67812464-67812488, 67812492-67812494, 67812515-67812519, 67812529-67812535, 67812544-67812552, 67812556, 67812568-67812569, 67814901-67814920, 67814930-67814931, 67814942-67814945, 67814958, 67814979, 67815004-67815039, 67815141-67815146, 67815151, 67815210-67815215, 67815229-67815271, 67815349-67815400, 67815430-67815438, 67816387-67816433, 67816548-67816588, 67816604-67816638, 67816669, 67816676-67816680, 67816691, 67816698, 67816704-67816707, 67816713-67816716, 67816741-67816761, 67817130-67817255, 67817429-67817437, 67817461-67817462, 67817475-67817484, 67817489-67817495, 67817509, 67817522-67817523, 67817604-67817721, 67817968-67818011, 67818015-67818016, 67818029-67818030, 67818039-67818046, 67818052-67818058, 67818076-67818092, 67818102-67818104, 67818110, 67818119-67818131, 67818208-67818218, 67818230, 67818245, 67818269-67818275 |
| 130 | LRP5 | 11 | 0.86509900990099 | 654 | 4848 | 68080183-68080273, 68131253-68131269, 68131304-68131312, 68131346-68131351, 68131360-68131394, 68131402-68131409, 68171024-68171047, 68171107-68171136, 68171146-68171150, 68174091-68174094, 68174139-68174140, 68174185, 68174219-68174221, 68174229, 68174238-68174240, 68174246-68174257, 68177382-68177390, 68177471-68177475, 68177478, 68177511, 68177554-68177566, 68178906-68178913, 68178919, 68178993, 68178996, 68179021-68179038, 68179070-68179086, 68181232-68181239, 68181256, 68181267, 68181308, 68181429-68181430, 68181445-68181457, 68191075-68191122, 68192571-68192579, 68192666-68192670, 68197157, 68201216-68201241, 68201305-68201306, 68204408-68204410, 68204417, 68204433, 68204439-68204446, 68206016-68206069, 68207248-68207266, 68207307-68207313, 68207336, 68207340-68207384, 68213931, 68213953-68213961, 68213970, 68216277-68216284, 68216324, 68216330, 68216336, 68216341-68216342, 68216345, 68216366-68216372, 68216403-68216430, 68216452-68216453, 68216464-68216469, 68216479-68216480, 68216511, 68216523 |
| 131 | CPT1A | 11 | 0.99698535745047 | 7 | 2322 | 68527722-68527728 |
| 132 | IGHMBP2 | 11 | 0.99429912810194 | 17 | 2982 | 68671474-68671487, 68673637, 68703959, 68707189 |
| 133 | DHCR7 | 11 | 0.97058823529412 | 42 | 1428 | 71146578-71146597, 71146652-71146656, 71146667-71146679, 71146842-71146845 |
| 134 | LRTOMT | 11 | 0.99657534246575 | 3 | 876 | 71819120-71819122 |
| 135 | MYO7A | 11 | 0.74684115523466 | 1683 | 6648 | 76867096-76867097, 76867992, 76883796, 76883799-76883858, 76883884, 76883887-76883910, 76883914, 76883925-76883931, 76885802-76885810, 76885817-76885864, 76885873-76885960, 76886418-76886510, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892635, 76892997-76893200, 76893469-76893645, 76894113-76894182, 76894193-76894202, 76895658, 76895686-76895696, 76895722-76895725, 76895759-76895760, 76900389-76900406, 76900416, 76900420, 76900461-76900462, 76900468-76900470, 76900493, 76900513, 76901065-76901069, 76901077, 76901101-76901146, 76901151-76901158, 76901174-76901177, 76901852, 76903224-76903255, 76903270-76903279, 76903284-76903300, 76909567 |
| 136 | ALG8 | 11 | 0.99557242251739 | 7 | 1581 | 77820561, 77823724-77823729 |
| 137 | TRPC6 | 11 | 0.9964234620887 | 10 | 2796 | 101359770-101359771, 101454167-101454173, 101454215 |
| 138 | ALG9 | 11 | 0.99945533769063 | 1 | 1836 | 111742156 |
| 139 | DRD2 | 11 | 0.99324324324324 | 9 | 1332 | 113281449-113281452, 113283315, 113283481, 113283486, 113295130, 113295135 |
| 140 | APOA1 | 11 | 0.76865671641791 | 186 | 804 | 116706524-116706549, 116706599-116706635, 116706689, 116706692, 116706718-116706800, 116706811-116706820, 116706825-116706831, 116706880-116706890, 116706892, 116706900, 116706942, 116707720-116707721, 116707732, 116708061-116708064 |
| 141 | SCN4B | 11 | 0.94032023289665 | 41 | 687 | 118014549, 118015854, 118023337-118023375 |
| 142 | HMBS | 11 | 0.98987108655617 | 11 | 1086 | 118955755-118955765 |
| 143 | DPAGT1 | 11 | 0.99755501222494 | 3 | 1227 | 118967854-118967856 |
| 144 | ROBO3 | 11 | 0.99759673155491 | 10 | 4161 | 124735551-124735557, 124738891-124738893 |
| 145 | ACAD8 | 11 | 0.98878205128205 | 14 | 1248 | 134131677-134131684, 134134810-134134815 |
| 146 | WNK1 | 12 | 0.98825010490978 | 84 | 7149 | 862747-862749, 863149-863197, 994395-994421, 994806-994810 |
| 147 | CACNA1C | 12 | 0.99390336838897 | 40 | 6561 | 2676766-2676771, 2676916-2676925, 2690928-2690934, 2705111, 2716292, 2788879, 2794934-2794940, 2795425-2795431 |
| 148 | VWF | 12 | 0.96541104003791 | 292 | 8442 | 6122647-6122650, 6125328-6125375, 6125722-6125728, 6125813-6125819, 6127532-6127538, 6127655-6127661, 6127726-6127744, 6128064-6128070, 6128257-6128263, 6128339-6128357, 6128449-6128451, 6128476-6128508, 6128544-6128560, 6128630-6128656, 6128784-6128790, 6131925-6131932, 6131955-6131982, 6132003-6132033, 6172129-6172134 |
| 149 | TNFRSF1A | 12 | 0.99195906432749 | 11 | 1368 | 6438538-6438544, 6438581-6438583, 6438597 |
| 150 | SCNN1A | 12 | 0.99634202103338 | 8 | 2187 | 6457318-6457320, 6464578-6464582 |
| 151 | TPI1 | 12 | 0.948 | 39 | 750 | 6976805-6976807, 6976837-6976845, 6978146-6978147, 6978456-6978462, 6979461-6979478 |
| 152 | ATN1 | 12 | 0.98432689616569 | 56 | 3573 | 7045892-7045912, 7047223, 7050584-7050605, 7050639, 7050647-7050657 |
| 153 | PKP2 | 12 | 0.98568019093079 | 36 | 2514 | 33049447, 33049463-33049469, 33049611-33049638 |
| 154 | LRRK2 | 12 | 0.99512130801688 | 37 | 7584 | 40745433-40745445, 40745493, 40757313-40757314, 40760849, 40761535-40761554 |
| 155 | VDR | 12 | 0.99766355140187 | 3 | 1284 | 48251345-48251347 |
| 156 | COL2A1 | 12 | 0.99820788530466 | 8 | 4464 | 48377870-48377871, 48393858-48393859, 48398080, 48398099-48398101 |
| 157 | MLL2 | 12 | 0.91206211628747 | 1461 | 16614 | 49420757-49420774, 49421883, 49422624, 49422630-49422633, 49424084-49424107, 49424146, 49424149, 49424165, 49424400, 49424404-49424412, 49424443, 49425136-49425183, 49425245, 49425294, 49425456-49425486, 49425718-49425760, 49425776-49425779, 49425786-49425795, 49425806-49425840, 49425918-49425920, 49425947-49425948, 49425955-49425957, 49426029-49426035, 49426072-49426167, 49426207-49426229, 49426358-49426365, 49426486, 49426497-49426498, 49426562-49426665, 49426671-49426699, 49426708-49426755, 49426856-49426928, 49426955-49426962, 49427022-49427095, 49427139-49427140, 49427144-49427148, 49427194-49427202, 49427227, 49427240-49427295, 49427307-49427335, 49427406-49427411, 49427434-49427441, 49427661, 49427664, 49427674-49427678, 49427717-49427719, 49427869-49427872, 49428023-49428026, 49430908-49430933, 49430957-49430967, 49431000-49431026, 49431104-49431107, 49431217-49431223, 49431268-49431324, 49431339-49431384, 49431415-49431418, 49431421-49431424, 49431436-49431468, 49431495-49431501, 49431522-49431566, 49431580-49431654, 49431675, 49431709-49431717, 49431729-49431760, 49431771-49431816, 49431851-49431863, 49431870, 49431873, 49431878-49431880, 49431890-49431893, 49431902-49431924, 49431988-49432005, 49432073, 49432464-49432471, 49432509-49432510, 49432557, 49432610-49432614, 49432621-49432622, 49433313-49433314, 49433330, 49433374-49433375, 49433726-49433743, 49433928, 49433932, 49433935-49433943, 49433995-49434008, 49434061-49434093, 49434099-49434106, 49434271, 49434277-49434281 |
| 158 | DHH | 12 | 0.96389588581024 | 43 | 1191 | 49483884-49483890, 49484110-49484145 |
| 159 | TUBA1A | 12 | 0.87061403508772 | 59 | 456 | 49522210-49522241, 49522269, 49522303-49522320, 49522386, 49522411, 49522457, 49522468, 49522575, 49522578, 49522585, 49522605 |
| 160 | KRT81 | 12 | 0.89196310935441 | 164 | 1518 | 52683883, 52683916, 52683943-52683964, 52684021-52684060, 52684881-52684913, 52685075-52685087, 52685125-52685140, 52685156-52685193 |
| 161 | KRT86 | 12 | 0.88090349075975 | 174 | 1461 | 52695739-52695774, 52695805-52695837, 52696038, 52696053-52696069, 52696895-52696934, 52696990-52697031, 52702188-52702192 |
| 162 | KRT83 | 12 | 0.99527665317139 | 7 | 1482 | 52715026-52715032 |
| 163 | KRT6B | 12 | 0.9882005899705 | 20 | 1695 | 52845432-52845438, 52845531, 52845574, 52845677-52845686, 52845801 |
| 164 | KRT6C | 12 | 0.9693215339233 | 52 | 1695 | 52867094, 52867105, 52867187-52867193, 52867230-52867264, 52867324, 52867457-52867463 |
| 165 | KRT6A | 12 | 0.9811209439528 | 32 | 1695 | 52886542-52886559, 52886708-52886714, 52886908-52886914 |
| 166 | KRT5 | 12 | 0.99210377890581 | 14 | 1773 | 52908872, 52908889-52908901 |
| 167 | AAAS | 12 | 0.9945155393053 | 9 | 1641 | 53703050-53703053, 53708157, 53708175-53708177, 53708212 |
| 168 | RDH5 | 12 | 0.99895506792059 | 1 | 957 | 56114969 |
| 169 | KIF5A | 12 | 0.97547595998709 | 76 | 3099 | 57957299-57957301, 57957975-57957976, 57960912-57960920, 57961393-57961397, 57963092-57963104, 57963130-57963151, 57963361, 57963881, 57965956-57965971, 57966481-57966484 |
| 170 | CDK4 | 12 | 0.99451754385965 | 5 | 912 | 58142969, 58142974-58142976, 58142980 |
| 171 | CYP27B1 | 12 | 0.93189259986902 | 104 | 1527 | 58158635-58158642, 58158912-58158934, 58158963-58158979, 58158982, 58159185-58159227, 58159801-58159807, 58159817-58159821 |
| 172 | CEP290 | 12 | 0.99784946236559 | 16 | 7440 | 88524075-88524090 |
| 173 | TRPV4 | 12 | 0.92469418960245 | 197 | 2616 | 110221438-110221455, 110221511-110221512, 110224535, 110224632-110224642, 110226223-110226260, 110226305, 110230593-110230610, 110230615, 110236477-110236481, 110236503-110236536, 110236711, 110238502, 110240796-110240800, 110240948, 110246102-110246103, 110246112, 110246167-110246168, 110246172, 110246184, 110246209-110246225, 110246235-110246267, 110252218-110252219, 110252573 |
| 174 | ATXN2 | 12 | 0.8285134449518 | 676 | 3942 | 111891495-111891501, 111894006-111894020, 111895102-111895107, 111902480-111902482, 111908415-111908416, 111908424, 111908429, 112036588-112036827, 112036866-112036869, 112036871-112036919, 112036925-112036929, 112036943-112037126, 112037146-112037290, 112037305-112037318 |
| 175 | SDS | 12 | 0.92198581560284 | 77 | 987 | 113830940, 113830950, 113835093-113835138, 113836333-113836350, 113836542, 113836545-113836546, 113836562, 113836590-113836595, 113836930 |
| 176 | TBX5 | 12 | 0.99871547848426 | 2 | 1557 | 114804082, 114804088 |
| 177 | TBX3 | 12 | 0.99775985663082 | 5 | 2232 | 115112244-115112246, 115112304, 115112307 |
| 178 | HNF1A | 12 | 0.95147679324895 | 92 | 1896 | 121416583, 121416604, 121416611, 121416738-121416763, 121434196, 121434442-121434454, 121435310-121435316, 121437364-121437371, 121437382, 121437395, 121437404-121437420, 121438956-121438959, 121438985-121438995 |
| 179 | HPD | 12 | 0.86040609137056 | 165 | 1182 | 122277838-122277861, 122281684-122281692, 122284958-122284963, 122284999-122285025, 122285091, 122286905-122286940, 122287654-122287674, 122287690-122287696, 122294230-122294260, 122294521, 122295709, 122296605 |
| 180 | PUS1 | 12 | 0.94704049844237 | 68 | 1284 | 132414268, 132414278-132414279, 132414324-132414341, 132414503-132414506, 132414509-132414511, 132414514, 132414596-132414624, 132414677-132414679, 132426429-132426434, 132426451 |
| 181 | GJB2 | 13 | 0.99559471365639 | 3 | 681 | 20763247, 20763253-20763254 |
| 182 | SACS | 13 | 0.99919941775837 | 11 | 13740 | 23908430-23908440 |
| 183 | B3GALTL | 13 | 0.96927187708751 | 46 | 1497 | 31774222-31774260, 31774272-31774278 |
| 184 | BRCA2 | 13 | 0.99931753924149 | 7 | 10257 | 32893440, 32910718, 32910723-32910724, 32912466-32912467, 32913471 |
| 185 | FREM2 | 13 | 0.99800210304942 | 19 | 9510 | 39261568-39261570, 39261673, 39261682-39261690, 39261787-39261791, 39262342 |
| 186 | SLC25A15 | 13 | 0.99227373068433 | 7 | 906 | 41382658-41382664 |
| 187 | RB1 | 13 | 0.99964119124507 | 1 | 2787 | 48878114 |
| 188 | ATP7B | 13 | 0.99454297407913 | 24 | 4398 | 52508953-52508973, 52509084-52509085, 52509817 |
| 189 | SLITRK1 | 13 | 0.99665231946437 | 7 | 2091 | 84453755, 84453758, 84453770-84453774 |
| 190 | ZIC2 | 13 | 0.85741088180113 | 228 | 1599 | 100634319-100634338, 100634384-100634414, 100634527, 100634558-100634609, 100634703, 100634712-100634714, 100635008-100635013, 100637715-100637717, 100637723-100637758, 100637769, 100637805-100637865, 100637871-100637877, 100637906-100637911 |
| 191 | PCCA | 13 | 0.99954275262917 | 1 | 2187 | 100741432 |
| 192 | F7 | 13 | 0.24119850187266 | 1013 | 1335 | 113760156-113760198, 113760202, 113760216-113760219, 113765037-113765093, 113765115-113765145, 113765154-113765163, 113768205-113768242, 113768265-113768266, 113769974-113770048, 113770057-113770114, 113771087, 113771140-113771189, 113771787-113771818, 113771832-113771896, 113771904-113771910, 113772728-113772928, 113772934-113773069, 113773109-113773263, 113773276-113773322 |
| 193 | F10 | 13 | 0.94751192910702 | 77 | 1467 | 113777184-113777214, 113777217, 113777221-113777224, 113777228-113777239, 113798271-113798278, 113803298, 113803308-113803316, 113803336-113803341, 113803698-113803702 |
| 194 | GRK1 | 13 | 0.8031914893617 | 333 | 1692 | 114321722-114321726, 114321758, 114321765-114321774, 114321798-114321872, 114321882-114321888, 114321926-114321929, 114321959, 114322034-114322043, 114322135-114322154, 114322168, 114322363-114322390, 114324022-114324029, 114325858, 114325869, 114325872-114325906, 114325954-114325958, 114325964-114325971, 114426047-114426094, 114426103, 114434200-114434248, 114435945-114435948, 114436027, 114436035-114436043, 114436050 |
| 195 | TEP1 | 14 | 0.99974632166413 | 2 | 7884 | 20851757-20851758 |
| 196 | PABPN1 | 14 | 0.99348534201954 | 6 | 921 | 23790700-23790702, 23791005, 23791020, 23791028 |
| 197 | MYH6 | 14 | 0.99312714776632 | 40 | 5820 | 23853686, 23858218-23858221, 23859444, 23862888-23862891, 23863308-23863311, 23868060, 23868127, 23868131-23868133, 23869541-23869545, 23869548, 23869551-23869556, 23869957, 23869964, 23870095, 23871952-23871957 |
| 198 | MYH7 | 14 | 0.9965564738292 | 20 | 5808 | 23884876, 23885278-23885279, 23887469-23887474, 23887477, 23887526, 23887533-23887536, 23887550-23887554 |
| 199 | NRL | 14 | 0.9047619047619 | 68 | 714 | 24550475-24550494, 24550548-24550593, 24550643-24550644 |
| 200 | PCK2 | 14 | 0.99739989599584 | 5 | 1923 | 24572434-24572436, 24572440, 24572454 |
| 201 | TGM1 | 14 | 0.96291768541157 | 91 | 2454 | 24723378-24723398, 24723881-24723883, 24724246-24724251, 24724349-24724353, 24724387-24724401, 24725203-24725209, 24725214-24725225, 24725277-24725283, 24729846-24729847, 24729852-24729857, 24731415-24731417, 24731440-24731442, 24731447 |
| 202 | FOXG1 | 14 | 0.82857142857143 | 252 | 1470 | 29236620-29236730, 29236747, 29236754-29236760, 29236778-29236837, 29236864, 29236873-29236926, 29236929-29236946 |
| 203 | NKX2-1 | 14 | 0.84825870646766 | 183 | 1206 | 36986583, 36986590, 36986600, 36986659-36986684, 36986691-36986755, 36986826-36986842, 36986856, 36986859, 36986870-36986915, 36986954-36986955, 36988190, 36988371-36988390, 36989297 |
| 204 | MGAT2 | 14 | 0.99181547619048 | 11 | 1344 | 50088125-50088132, 50088469-50088471 |
| 205 | C14orf104 | 14 | 0.99005568814638 | 25 | 2514 | 50100573, 50100751-50100758, 50101057, 50101261, 50101353-50101358, 50101479, 50101556-50101557, 50101560-50101563, 50101682 |
| 206 | PYGL | 14 | 0.99213836477987 | 20 | 2544 | 51379779-51379790, 51410941-51410948 |
| 207 | GCH1 | 14 | 0.81274900398406 | 141 | 753 | 55369084-55369110, 55369193-55369270, 55369280-55369282, 55369285-55369295, 55369298-55369308, 55369351-55369361 |
| 208 | SYNE2 | 14 | 0.99995174676703 | 1 | 20724 | 64685220 |
| 209 | PSEN1 | 14 | 0.99501424501425 | 7 | 1404 | 73637660-73637662, 73673165-73673168 |
| 210 | VSX2 | 14 | 0.97421731123389 | 28 | 1086 | 74706340-74706343, 74706392, 74706401-74706423 |
| 211 | FLVCR2 | 14 | 0.99936748893106 | 1 | 1581 | 76045879 |
| 212 | ESRRB | 14 | 0.94302554027505 | 87 | 1527 | 76957792, 76957804, 76957808-76957812, 76957887, 76957905, 76957925-76957938, 76957942-76957944, 76958012-76958014, 76958021, 76964622-76964640, 76964668-76964703, 76964747-76964748 |
| 213 | POMT2 | 14 | 0.96005326231691 | 90 | 2253 | 77786820-77786885, 77786973, 77786979-77786980, 77786995-77787014, 77787018 |
| 214 | ATXN3 | 14 | 0.98618784530387 | 15 | 1086 | 92537317-92537327, 92537355-92537357, 92560130 |
| 215 | AMN | 14 | 0.04625550660793 | 1299 | 1362 | 103389026-103389068, 103390057, 103390065, 103390079-103390085, 103390089, 103390091-103390099, 103390103-103390104, 103390110-103390163, 103390284-103390314, 103394763-103394850, 103395095-103395117, 103395123-103395312, 103395458-103395595, 103395765-103395873, 103395992-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017 |
| 216 | INF2 | 14 | 0.059466666666667 | 3527 | 3750 | 105167703-105167812, 105167827-105167894, 105167908-105168093, 105169442-105169557, 105169632-105169686, 105169709-105169791, 105170253-105170286, 105172372-105172513, 105173261-105173290, 105173296, 105173299, 105173322-105173388, 105173590-105173610, 105173617-105173821, 105173827-105174339, 105174773-105174783, 105174792-105174924, 105175008-105175069, 105175618-105175626, 105175635-105175663, 105175671-105175720, 105175957-105176005, 105176013-105176035, 105176041-105176042, 105176425-105176495, 105176501-105176525, 105177274-105177344, 105177416-105177523, 105177966-105177995, 105178005-105178036, 105178770-105178837, 105178843-105178890, 105179165-105179329, 105179544-105179646, 105179782-105179900, 105179914-105179943, 105180540-105180800, 105180813-105180871, 105180881-105180882, 105180893-105180969, 105180981-105181193, 105181621-105181665 |
| 217 | NIPA1 | 15 | 0.76969696969697 | 228 | 990 | 23049004-23049053, 23086234-23086411 |
| 218 | CHST14 | 15 | 0.92749778956676 | 82 | 1131 | 40763419, 40763444, 40763447-40763470, 40763479, 40763509-40763540, 40763707-40763709, 40763786, 40763802-40763820 |
| 219 | CAPN3 | 15 | 0.99754901960784 | 6 | 2448 | 42691790-42691795 |
| 220 | CDAN1 | 15 | 0.99755700325733 | 9 | 3684 | 43028650-43028653, 43028720-43028724 |
| 221 | STRC | 15 | 0.9923048048048 | 41 | 5328 | 43910863-43910903 |
| 222 | DUOX2 | 15 | 0.98493651818377 | 70 | 4647 | 45403582-45403599, 45403621, 45403755-45403783, 45403985-45404004, 45405199-45405200 |
| 223 | GATM | 15 | 0.98899371069182 | 14 | 1272 | 45670618-45670630, 45670637 |
| 224 | FBN1 | 15 | 0.99918755803157 | 7 | 8616 | 48791194-48791200 |
| 225 | CLN6 | 15 | 0.93269230769231 | 63 | 936 | 68500487-68500492, 68521853-68521889, 68521901, 68521904-68521922 |
| 226 | NR2E3 | 15 | 0.99909420289855 | 1 | 1104 | 72105808 |
| 227 | BBS4 | 15 | 0.99935897435897 | 1 | 1560 | 73023781 |
| 228 | HCN4 | 15 | 0.81672203765227 | 662 | 3612 | 73614834, 73614877, 73614883, 73615170, 73615676, 73616447, 73659827-73659828, 73659869, 73659959-73660611 |
| 229 | PSTPIP1 | 15 | 0.047961630695444 | 1191 | 1251 | 77310489-77310507, 77310516-77310589, 77310798-77310872, 77317625-77317659, 77317839-77317945, 77320193-77320255, 77320895-77320993, 77321870-77321875, 77321892-77321915, 77322843-77322922, 77323521-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517 |
| 230 | RPS17 | 15 | 0.98039215686275 | 8 | 408 | 82823386-82823393 |
| 231 | RPS17 | 15 | 0.8578431372549 | 58 | 408 | 83207665, 83207729-83207736, 83208732-83208756, 83208818, 83208840, 83208862-83208883 |
| 232 | POLG | 15 | 0.98897849462366 | 41 | 3720 | 89876824-89876864 |
| 233 | MESP2 | 15 | 0.80737018425461 | 230 | 1194 | 90319589-90319594, 90319602-90319603, 90319620-90319637, 90319682, 90319697, 90319806, 90319823-90319889, 90319924, 90319936-90319941, 90319966-90319993, 90320116-90320164, 90320170-90320188, 90320242, 90320300, 90320351-90320379 |
| 234 | BLM | 15 | 0.99717912552891 | 12 | 4254 | 91337458-91337463, 91337475-91337480 |
| 235 | VPS33B | 15 | 0.98112189859763 | 35 | 1854 | 91542229, 91543001-91543002, 91543005-91543010, 91543014-91543017, 91548927-91548935, 91548986, 91565389-91565400 |
| 236 | HBZ | 16 | 0.30536130536131 | 298 | 429 | 202909-202930, 202956-202975, 202988-203003, 203893, 203896, 203900-203901, 203906, 203918-203941, 203949-203992, 204001-204095, 204271-204323, 204330-204338, 204341-204350 |
| 237 | HBM | 16 | 0.99765258215962 | 1 | 426 | 216031 |
| 238 | HBA2 | 16 | 0.3962703962704 | 259 | 429 | 222912-223006, 223124-223153, 223199-223208, 223236, 223240-223247, 223257-223258, 223264, 223275-223321, 223472-223501, 223511, 223532-223565 |
| 239 | GNPTG | 16 | 0.78758169934641 | 195 | 918 | 1401967-1402018, 1402103-1402127, 1402140-1402160, 1402240-1402307, 1412074, 1412250-1412251, 1412266, 1412277-1412300, 1413030 |
| 240 | CLCN7 | 16 | 0.27708850289495 | 1748 | 2418 | 1496632-1496718, 1497007-1497087, 1497393-1497569, 1497656-1497715, 1498356-1498485, 1498682-1498767, 1498967-1499094, 1499277-1499328, 1500498-1500667, 1501624-1501712, 1502756-1502894, 1503835-1503895, 1504412-1504466, 1505135-1505251, 1505732-1505737, 1505759-1505796, 1506114-1506150, 1506158-1506166, 1506194-1506207, 1507255-1507261, 1507290-1507296, 1507695-1507721, 1507735, 1507743-1507744, 1507747-1507757, 1509108-1509109, 1509123, 1509135-1509147, 1509182-1509184, 1509187-1509188, 1510431-1510456, 1510516-1510518, 1510870-1510874, 1510912-1510939, 1510946, 1524835, 1524873-1524922, 1524932-1524937, 1524960-1524975 |
| 241 | IGFALS | 16 | 0.15579710144928 | 1631 | 1932 | 1840616-1840713, 1840722-1840763, 1840773-1840774, 1840790-1840926, 1840947-1840982, 1840998-1841087, 1841097-1841109, 1841112-1841113, 1841118, 1841131-1841271, 1841296-1841297, 1841299-1841320, 1841323-1841324, 1841341-1841364, 1841374-1841381, 1841389, 1841397, 1841405-1841427, 1841452-1841706, 1841728-1841865, 1841874, 1841877, 1841884-1841896, 1841904-1842095, 1842115-1842116, 1842134-1842198, 1842209-1842310, 1842316-1842516, 1843638-1843653 |
| 242 | GFER | 16 | 0.092233009708738 | 561 | 618 | 2034220-2034477, 2034748-2034852, 2034860-2034900, 2034909-2034910, 2034935-2034937, 2035867-2035952, 2035964-2036029 |
| 243 | TSC2 | 16 | 0.17643805309735 | 4467 | 5424 | 2098618-2098621, 2098647-2098685, 2098692, 2098704-2098754, 2100401-2100437, 2103343-2103345, 2103386-2103420, 2103427-2103431, 2103439-2103441, 2103452-2103453, 2104297-2104301, 2104362, 2104426-2104431, 2105515, 2106198-2106225, 2106244, 2106674-2106687, 2106753, 2108748-2108751, 2108765-2108804, 2108810, 2108813, 2108825-2108826, 2108829, 2108859-2108864, 2108871-2108874, 2110671-2110814, 2111872-2111890, 2111897-2111908, 2111911-2111915, 2111945, 2112005-2112009, 2112500-2112505, 2112517-2112526, 2112545-2112601, 2112973-2113043, 2114273-2114283, 2114336, 2114341-2114342, 2114350-2114362, 2114367, 2114370-2114371, 2114386-2114428, 2115520-2115576, 2115585-2115597, 2115600-2115604, 2115607-2115617, 2120457-2120497, 2120505-2120579, 2121511-2121617, 2121787-2121935, 2122242-2122254, 2122262-2122364, 2122850-2122967, 2122975, 2122979-2122984, 2124201-2124390, 2125800-2125893, 2126069-2126171, 2126492-2126586, 2127599-2127727, 2129033-2129197, 2129277-2129429, 2129558-2129670, 2130166-2130378, 2131596-2131799, 2132437-2132505, 2133696-2133817, 2134229-2134716, 2134952-2135027, 2135231-2135323, 2136194-2136380, 2136733-2136872, 2137864-2137942, 2138049-2138140, 2138228-2138326, 2138447-2138611 |
| 244 | PKD1 | 16 | 0 | 12912 | 12912 | 2139728-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142593, 2142955-2143094, 2143545-2143739, 2143812-2144014, 2144093-2144211, 2147149-2147242, 2147320-2147504, 2147729-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168846, 2169115-2169186, 2169308-2169379, 2185476-2185690 |
| 245 | ABCA3 | 16 | 0.744477028348 | 1307 | 5115 | 2326675-2326693, 2326702-2326753, 2327598-2327599, 2327659, 2327880-2327881, 2327929-2327944, 2327952-2327953, 2327968-2327977, 2327982-2327995, 2328025, 2328069-2328070, 2328315-2328326, 2328343, 2328376-2328384, 2328388, 2328391-2328393, 2328397-2328404, 2328439, 2328442, 2329004-2329040, 2331028-2331039, 2331043-2331066, 2331090-2331119, 2331142, 2331146-2331148, 2331151-2331202, 2331214-2331222, 2331407-2331466, 2331495-2331510, 2333187-2333272, 2333297-2333320, 2333331-2333359, 2334282-2334290, 2334303-2334322, 2334345, 2334351-2334357, 2334399-2334415, 2334780-2334784, 2334803-2334804, 2334807-2334814, 2334905-2334908, 2334920-2334999, 2335473-2335477, 2335481-2335491, 2335503-2335508, 2335515-2335555, 2335618-2335647, 2336695-2336706, 2336744-2336747, 2336756, 2336762, 2336767, 2336781-2336787, 2336919-2336932, 2338029-2338032, 2338036, 2338039, 2338064-2338095, 2338127-2338131, 2338142-2338143, 2338166, 2338269, 2339471-2339482, 2339544-2339563, 2339592-2339621, 2342206-2342207, 2345596, 2345600, 2345603, 2345645-2345648, 2345669, 2345740, 2347348, 2347353-2347363, 2347371, 2347407, 2347435-2347440, 2347483-2347501, 2347514-2347516, 2347528-2347540, 2347770-2347803, 2347812-2347855, 2347921-2347922, 2348387-2348400, 2348419-2348444, 2348506-2348540, 2349448-2349470, 2349475-2349478, 2350009-2350011, 2350014-2350030, 2350057, 2354074, 2358560-2358568, 2358585-2358613, 2367745-2367756, 2369669-2369676, 2369744-2369748, 2369778-2369800, 2369825, 2374465-2374477, 2376052, 2376072 |
| 246 | MEFV | 16 | 0.98976982097187 | 24 | 2346 | 3293218, 3293290, 3293635, 3297047-3297054, 3297060, 3297078, 3304516-3304520, 3304573, 3306343, 3306366, 3306371-3306372, 3306414 |
| 247 | SLX4 | 16 | 0.98873751135332 | 62 | 5505 | 3632377, 3632385, 3632524, 3632527-3632529, 3632533, 3632558-3632564, 3633326, 3634795, 3639369, 3639768, 3639993-3639994, 3642765-3642768, 3647900-3647917, 3650987-3650998, 3651017-3651024 |
| 248 | CREBBP | 16 | 0.93437030972848 | 481 | 7329 | 3777794-3777801, 3777858, 3777989-3777995, 3778034-3778057, 3778159, 3778223-3778229, 3778294-3778320, 3778385-3778386, 3778388, 3778393-3778398, 3778419, 3778439-3778455, 3778560, 3778571-3778573, 3778589, 3778600-3778652, 3778788-3778811, 3778836-3778842, 3778890-3778961, 3779008-3779019, 3779062-3779088, 3779106-3779112, 3779139, 3779148, 3779154-3779175, 3779207-3779221, 3779251-3779272, 3779297, 3779301-3779321, 3779356-3779370, 3779404-3779414, 3779420-3779421, 3779452-3779482, 3779703-3779728, 3790401, 3819202, 3819242-3819243 |
| 249 | GLIS2 | 16 | 0.023492063492063 | 1538 | 1575 | 4382282-4382453, 4383348-4383441, 4383466-4383483, 4383490-4383520, 4384802-4384911, 4384919-4384978, 4385061-4385194, 4385276-4385394, 4386726-4387525 |
| 250 | ALG1 | 16 | 0.80430107526882 | 273 | 1395 | 5127519, 5127967, 5127994-5128018, 5128775-5128794, 5128822-5128873, 5129065-5129089, 5129749-5129754, 5129792, 5130959-5131006, 5131019-5131052, 5132633-5132663, 5134815-5134837, 5134877-5134882 |
| 251 | ABAT | 16 | 0.99667332002661 | 5 | 1503 | 8873397-8873401 |
| 252 | MYH11 | 16 | 0.99276094276094 | 43 | 5940 | 15797925-15797932, 15797935, 15820753, 15826511-15826521, 15829233-15829245, 15833971, 15835350, 15839034, 15847251-15847255, 15869970 |
| 253 | ABCC6 | 16 | 0.7415780141844 | 1166 | 4512 | 16244040, 16244487-16244490, 16244544-16244552, 16253339, 16253355, 16253380-16253394, 16255295-16255327, 16255340-16255341, 16255350-16255379, 16256850-16256914, 16256950-16256971, 16257012-16257028, 16259480-16259611, 16259620-16259657, 16259692-16259727, 16259739, 16259750, 16259755-16259784, 16259790, 16263503-16263710, 16267141-16267261, 16269768-16269843, 16271309-16271322, 16271335-16271389, 16271402-16271407, 16271417-16271470, 16271473, 16272655-16272665, 16272670, 16272673-16272676, 16272695-16272700, 16272703-16272704, 16272707, 16272732-16272743, 16272746-16272752, 16272758, 16272769-16272771, 16272821-16272822, 16276269-16276302, 16276411-16276415, 16276714-16276725, 16276757-16276775, 16282748-16282753, 16284036-16284065, 16317256-16317291 |
| 254 | UMOD | 16 | 0.99687987519501 | 6 | 1923 | 20359853-20359854, 20359890, 20360073-20360074, 20360312 |
| 255 | COG7 | 16 | 0.99610894941634 | 9 | 2313 | 23403752-23403755, 23436108-23436111, 23464230 |
| 256 | PALB2 | 16 | 0.99803426003931 | 7 | 3561 | 23634388-23634392, 23641367-23641368 |
| 257 | CLN3 | 16 | 0.92331055429005 | 101 | 1317 | 28493482, 28493497-28493501, 28497672-28497675, 28497698-28497705, 28497712, 28497732, 28497735-28497740, 28498816, 28498837, 28498849-28498851, 28498858-28498862, 28499014-28499015, 28499027-28499042, 28499912-28499936, 28500611-28500613, 28500658-28500676 |
| 258 | TUFM | 16 | 0.94590643274854 | 74 | 1368 | 28857337, 28857375-28857421, 28857551-28857576 |
| 259 | ATP2A1 | 16 | 0.95143047238856 | 146 | 3006 | 28893819, 28893844, 28895915-28895921, 28895962-28895976, 28898519-28898520, 28898574-28898580, 28898746-28898753, 28898930-28898946, 28900143-28900191, 28900258-28900269, 28909744, 28912007, 28912137-28912159, 28914715-28914716 |
| 260 | PHKG2 | 16 | 0.98443898443898 | 19 | 1221 | 30760146, 30760156-30760164, 30760179, 30760183-30760185, 30760188, 30762568, 30762600, 30764720, 30768335 |
| 261 | VKORC1 | 16 | 0.96138211382114 | 19 | 492 | 31102624, 31102646-31102649, 31102653-31102663, 31105889, 31105896, 31105950 |
| 262 | FUS | 16 | 0.96204933586338 | 60 | 1581 | 31191536, 31193959, 31195295-31195306, 31195676-31195717, 31196403-31196405, 31196471 |
| 263 | SLC5A2 | 16 | 0.77761267954433 | 449 | 2019 | 31494495-31494507, 31494518-31494562, 31496045-31496065, 31496140-31496159, 31497128-31497145, 31497513-31497519, 31498868-31498869, 31498914, 31499026-31499079, 31499359-31499374, 31499399-31499412, 31499416, 31499449-31499474, 31499798-31499803, 31499943-31499964, 31499974-31500003, 31500040-31500089, 31500201-31500241, 31500272-31500286, 31500361-31500369, 31500544-31500547, 31501730-31501763 |
| 264 | PHKB | 16 | 0.99939061547837 | 2 | 3282 | 47627467-47627468 |
| 265 | SALL1 | 16 | 0.99924528301887 | 3 | 3975 | 51175656-51175658 |
| 266 | MMP2 | 16 | 0.99747856782653 | 5 | 1983 | 55513392-55513396 |
| 267 | SLC12A3 | 16 | 0.85224700937601 | 457 | 3093 | 56899208-56899209, 56899220-56899231, 56899413-56899418, 56901045-56901055, 56901059-56901065, 56901089-56901096, 56901102, 56901107-56901108, 56906370, 56906645-56906650, 56906659-56906661, 56906670, 56911989-56911997, 56912985-56913004, 56913026, 56913109, 56913120-56913139, 56913499-56913546, 56914042, 56914046, 56914049-56914052, 56914129, 56914146-56914147, 56914154-56914165, 56918026, 56918065, 56918101-56918103, 56919245, 56919276, 56920276-56920310, 56920363, 56920865-56920866, 56920908-56920950, 56920965-56920981, 56920989-56921000, 56921837-56921943, 56924186-56924222, 56926042, 56926070-56926072, 56926954-56926958, 56926962-56926963, 56928548-56928549, 56928553, 56933446, 56947300 |
| 268 | GPR56 | 16 | 0.82364341085271 | 364 | 2064 | 57684200-57684216, 57684232-57684237, 57685138-57685147, 57685186-57685224, 57685273-57685291, 57687898-57687911, 57689311-57689370, 57689411-57689425, 57689834-57689841, 57689876-57689899, 57690464-57690465, 57690506-57690513, 57691285-57691313, 57693325-57693345, 57693351-57693371, 57693460-57693468, 57693485, 57693498, 57693528, 57693531, 57694760, 57694771, 57695629-57695635, 57695661-57695663, 57695674-57695683, 57695734-57695738, 57695748-57695760, 57695763-57695769, 57697422-57697432 |
| 269 | CNGB1 | 16 | 0.9933439829606 | 25 | 3756 | 57957177-57957191, 57992320, 58001035-58001040, 58001077, 58001117, 58001125 |
| 270 | TK2 | 16 | 0.95887445887446 | 38 | 924 | 66583880, 66583913-66583949 |
| 271 | HSD11B2 | 16 | 0.82183908045977 | 217 | 1218 | 67465152-67465364, 67465384, 67465401, 67465405, 67470001 |
| 272 | LCAT | 16 | 0.67724867724868 | 427 | 1323 | 67973807-67973819, 67973837, 67973862-67973894, 67973921-67973943, 67973962-67974009, 67974027-67974033, 67974089-67974172, 67974304-67974308, 67974338-67974342, 67974347-67974348, 67976277, 67976412-67976413, 67976461, 67976469-67976490, 67976587-67976625, 67976633-67976640, 67976648-67976669, 67976772-67976781, 67976787, 67976868-67976869, 67976959-67976993, 67977040-67977051, 67977884-67977885, 67977931, 67977957-67978004 |
| 273 | CDH3 | 16 | 0.92369477911647 | 190 | 2490 | 68679283-68679293, 68679323-68679327, 68712173-68712177, 68716264-68716265, 68716332, 68716340-68716342, 68718605-68718609, 68718633, 68719126-68719174, 68719240-68719247, 68721441-68721474, 68721591-68721598, 68721639, 68725742-68725786, 68725794-68725800, 68725825-68725829 |
| 274 | CDH1 | 16 | 0.98867497168743 | 30 | 2649 | 68771326-68771355 |
| 275 | COG8 | 16 | 0.89070146818923 | 201 | 1839 | 69364742-69364743, 69364771-69364877, 69364956-69364957, 69364985, 69370410-69370413, 69370482-69370483, 69373079-69373102, 69373126-69373143, 69373181-69373201, 69373203, 69373215-69373220, 69373227-69373235, 69373414, 69373427, 69373441, 69373444 |
| 276 | AARS | 16 | 0.99724802201582 | 8 | 2907 | 70299495-70299501, 70303580 |
| 277 | HP | 16 | 0.92219492219492 | 95 | 1221 | 72092155-72092178, 72092190-72092237, 72093014-72093036 |
| 278 | GCSH | 16 | 0.88122605363985 | 62 | 522 | 81129739-81129760, 81129786-81129799, 81129810, 81129850-81129874 |
| 279 | GAN | 16 | 0.99442586399108 | 10 | 1794 | 81348730-81348731, 81348738, 81348748, 81348762-81348767 |
| 280 | MLYCD | 16 | 0.67273954116059 | 485 | 1482 | 83932750-83932912, 83932919-83932963, 83932970-83933039, 83933049-83933149, 83933159-83933161, 83933166, 83933180-83933186, 83933203-83933234, 83933257-83933277, 83941801-83941807, 83945880-83945882, 83945908, 83948761-83948763, 83948844, 83948849, 83948860-83948861, 83948922-83948945 |
| 281 | LRRC50 | 16 | 0.97612488521579 | 52 | 2178 | 84199433-84199435, 84199440-84199441, 84199535-84199536, 84203713-84203719, 84203896, 84203939-84203940, 84205952-84205956, 84209651, 84209858-84209885, 84211383 |
| 282 | FOXF1 | 16 | 0.8219298245614 | 203 | 1140 | 86544179-86544183, 86544207-86544217, 86544221-86544226, 86544232, 86544246, 86544256-86544257, 86544262-86544268, 86544295-86544315, 86544339-86544351, 86544583-86544602, 86544697-86544716, 86544770-86544771, 86544839-86544881, 86544891-86544924, 86545029, 86546658-86546673 |
| 283 | FOXC2 | 16 | 0.8472775564409 | 230 | 1506 | 86601097-86601098, 86601107, 86601341, 86601344-86601346, 86601349, 86601423-86601433, 86601505-86601514, 86601592-86601607, 86601657-86601687, 86601696-86601699, 86601708-86601728, 86601790-86601796, 86601802-86601804, 86601849-86601850, 86601865, 86601868-86601872, 86601967-86601984, 86602067, 86602075-86602077, 86602080, 86602116-86602144, 86602160-86602193, 86602246, 86602314-86602337 |
| 284 | JPH3 | 16 | 0.37427681352915 | 1406 | 2247 | 87636753-87636754, 87636836-87636888, 87636910-87636912, 87636929-87636933, 87637028, 87637084-87637085, 87637106-87637134, 87677891-87677991, 87678025-87678054, 87678094-87678113, 87678144, 87678153-87678195, 87678211, 87678217-87678222, 87678271-87678282, 87678290, 87678307-87678327, 87678340-87678362, 87678370-87678372, 87678384-87678408, 87678427-87678486, 87678502-87678523, 87678551-87678641, 87717748-87717872, 87723252-87723510, 87723518-87723627, 87723641-87723811, 87723822, 87723866-87723932, 87723956-87724043, 87724052, 87724085-87724099, 87724119-87724132 |
| 285 | CYBA | 16 | 0.16666666666667 | 490 | 588 | 88709761-88709979, 88712524-88712605, 88713163-88713191, 88713206, 88713230-88713246, 88713509-88713553, 88713563-88713569, 88714453-88714464, 88714485-88714504, 88717364-88717421 |
| 286 | APRT | 16 | 0.046040515653775 | 518 | 543 | 88876106-88876235, 88876244-88876248, 88876478-88876556, 88876831-88876885, 88876903-88876964, 88877958-88878064, 88878228-88878307 |
| 287 | GALNS | 16 | 0.40535372848948 | 933 | 1569 | 88880847-88880933, 88884415-88884532, 88888997-88889118, 88891175-88891277, 88893110-88893152, 88893163-88893164, 88893176-88893208, 88898406-88898439, 88898465-88898476, 88901621-88901633, 88901646-88901648, 88901663, 88901749-88901760, 88902144-88902146, 88902164-88902167, 88902178, 88902188, 88902193, 88902206, 88902609, 88902618, 88904030-88904032, 88904043-88904051, 88904078, 88904083, 88904087, 88907400-88907459, 88907474, 88907493-88907502, 88908305-88908374, 88909114-88909153, 88909182-88909200, 88909208, 88909211, 88923166-88923285 |
| 288 | SPG7 | 16 | 0.84087102177554 | 380 | 2388 | 89574826-89574843, 89574910-89574959, 89574983-89574994, 89598344-89598346, 89598414-89598416, 89613126, 89613163, 89614411-89614418, 89614439-89614464, 89614474, 89614484-89614516, 89616986-89617010, 89619431-89619478, 89620303-89620304, 89620339, 89620343-89620368, 89620906-89620907, 89623372-89623424, 89623430-89623489, 89623495-89623501 |
| 289 | FANCA | 16 | 0.90407509157509 | 419 | 4368 | 89805021-89805052, 89805055-89805059, 89805078-89805091, 89805102, 89805541-89805549, 89805589, 89805931-89805956, 89806435, 89806440-89806441, 89806452-89806454, 89806468, 89807226-89807248, 89807274, 89809209-89809218, 89809221, 89809300, 89811378, 89811430, 89811433-89811435, 89815124-89815144, 89818598, 89831347-89831354, 89836270, 89836972-89836993, 89837000-89837042, 89838094-89838105, 89839679-89839706, 89839750-89839757, 89842150, 89842155-89842180, 89842188, 89842203, 89842206-89842215, 89842219-89842223, 89845220-89845245, 89880991-89880993, 89882303-89882315, 89882945-89882956, 89882977-89883010, 89883017-89883023 |
| 290 | TUBB3 | 16 | 0.5410199556541 | 621 | 1353 | 89989811-89989821, 89989835-89989866, 89998995-89998997, 89999038, 89999043-89999045, 89999048-89999054, 89999058-89999060, 89999877-89999883, 89999957, 89999968, 90001182, 90001226-90001264, 90001282-90001314, 90001341, 90001346-90001350, 90001382-90001497, 90001523-90001526, 90001547, 90001558-90001594, 90001630-90001714, 90001725-90001816, 90001839, 90001842, 90001845, 90001856-90001858, 90001863, 90001869, 90001874-90001894, 90001936-90001949, 90001958, 90001974-90002003, 90002041-90002064, 90002121-90002123, 90002130-90002133, 90002138, 90002141, 90002156-90002157, 90002172-90002199, 90002212 |
| 291 | PRPF8 | 17 | 0.99543378995434 | 32 | 7008 | 1586878-1586887, 1587766-1587787 |
| 292 | CTNS | 17 | 0.66251039068994 | 406 | 1203 | 3550781, 3552187, 3558557-3558560, 3558630-3558634, 3559781-3559825, 3559831-3559859, 3559874, 3559877-3559880, 3559976-3560011, 3560021-3560024, 3560040-3560089, 3561299-3561325, 3561334, 3561351-3561377, 3561419-3561421, 3561424, 3563152-3563194, 3563209-3563265, 3563530-3563535, 3563596, 3563602-3563620, 3563911-3563951 |
| 293 | CHRNE | 17 | 0.71794871794872 | 418 | 1482 | 4802088, 4802137, 4802146-4802149, 4802155, 4802158, 4802167-4802186, 4802296-4802306, 4802322-4802359, 4802383-4802402, 4802502, 4802509-4802530, 4802564-4802647, 4802659-4802679, 4802763-4802773, 4802783, 4802802-4802848, 4804181-4804202, 4804332-4804336, 4804346-4804348, 4804375-4804406, 4804416-4804436, 4804443-4804485, 4804821, 4805296-4805299, 4805358, 4805614, 4806344 |
| 294 | GP1BA | 17 | 0.99947916666667 | 1 | 1920 | 4837153 |
| 295 | PITPNM3 | 17 | 0.93401709401709 | 193 | 2925 | 6358670-6358673, 6358678, 6358688-6358767, 6358923, 6358957-6358963, 6373621-6373624, 6373635, 6373678, 6373682-6373684, 6374483-6374489, 6374622-6374624, 6374628-6374633, 6375993, 6376027, 6376032-6376034, 6376067-6376079, 6376108-6376109, 6377771-6377785, 6377809, 6377824-6377830, 6377846, 6377892, 6381867-6381871, 6382005, 6382021-6382022, 6459705-6459726 |
| 296 | ACADVL | 17 | 0.99136178861789 | 17 | 1968 | 7123304-7123308, 7123344-7123350, 7124866-7124868, 7125344, 7127962 |
| 297 | CHRNB1 | 17 | 0.96945551128818 | 46 | 1506 | 7348457-7348468, 7348472, 7348481, 7348494-7348496, 7348631-7348636, 7348641, 7348644-7348660, 7348716, 7348721, 7348728, 7350897, 7359224 |
| 298 | GUCY2D | 17 | 0.98882850241546 | 37 | 3312 | 7906385-7906386, 7906389, 7906392, 7906420-7906435, 7906451-7906466, 7906838 |
| 299 | ALOX12B | 17 | 0.99620132953466 | 8 | 2106 | 7982758-7982765 |
| 300 | ALOXE3 | 17 | 0.99812734082397 | 4 | 2136 | 8013765-8013768 |
| 301 | HES7 | 17 | 0.83923303834808 | 109 | 678 | 8024897-8024910, 8024913-8024916, 8024958, 8024963-8025004, 8025018, 8025024-8025026, 8025116-8025136, 8025144-8025163, 8025236, 8025322, 8025329 |
| 302 | MYH2 | 17 | 0.99845520082389 | 9 | 5826 | 10426871-10426877, 10427924, 10446477 |
| 303 | MYH3 | 17 | 0.99811093937833 | 11 | 5823 | 10558178-10558188 |
| 304 | ELAC2 | 17 | 0.97783151954857 | 55 | 2481 | 12897097-12897099, 12898170, 12898182-12898198, 12898284-12898301, 12899022, 12899875-12899876, 12899882, 12899942-12899947, 12903512-12903516, 12906823 |
| 305 | TNFRSF13B | 17 | 0.98979591836735 | 9 | 882 | 16843776-16843777, 16852255-16852261 |
| 306 | FLCN | 17 | 0.74712643678161 | 440 | 1740 | 17117032, 17117058-17117113, 17118513-17118515, 17118567-17118569, 17118606, 17118613, 17119705-17119734, 17119744-17119789, 17120454-17120461, 17122333-17122349, 17122381-17122389, 17122451, 17122471-17122473, 17124876, 17124879-17124886, 17124891, 17124895, 17125817, 17125837-17125916, 17125925, 17125928, 17127255, 17127260-17127263, 17127268, 17127311-17127314, 17127326-17127347, 17127354, 17127400-17127401, 17127453-17127454, 17129490-17129498, 17129527-17129551, 17129568-17129577, 17129604, 17129619, 17131203-17131262, 17131323, 17131326-17131330, 17131342-17131346, 17131422-17131434 |
| 307 | RAI1 | 17 | 0.92903338577172 | 406 | 5721 | 17696776-17696786, 17697094-17697096, 17697099, 17697110-17697119, 17697223-17697227, 17697232, 17697236, 17697283-17697298, 17697377, 17697615-17697629, 17697637, 17697643-17697644, 17697722-17697723, 17697769, 17697781-17697807, 17698222-17698223, 17698226, 17698230, 17698234-17698236, 17698725, 17698779, 17698790, 17698797, 17698801, 17698805, 17698813, 17698817-17698832, 17698865-17698869, 17698876, 17698879, 17699142, 17699145, 17699164, 17699274-17699302, 17699453-17699459, 17699523, 17699619-17699639, 17699675-17699707, 17699833-17699834, 17699837-17699839, 17699894-17699900, 17699938, 17700946-17700947, 17701144-17701167, 17701243, 17701456-17701466, 17701539-17701581, 17701695, 17701700-17701703, 17701721, 17701733, 17701811, 17707082, 17707086-17707087, 17707126-17707163, 17712731-17712753, 17713284-17713295 |
| 308 | MYO15A | 17 | 0.76899839516662 | 2447 | 10593 | 18022123-18022138, 18022171-18022210, 18022231, 18022270-18022278, 18022287-18022288, 18022369-18022392, 18022424-18022437, 18022464-18022495, 18022566-18022572, 18022630-18022717, 18022787-18022789, 18022829-18022865, 18022873-18022916, 18022931-18022956, 18023016-18023078, 18023101-18023108, 18023147-18023163, 18023257-18023329, 18023350-18023364, 18023408-18023445, 18023456-18023457, 18023464-18023484, 18023500-18023502, 18023529-18023572, 18023621-18023653, 18023659, 18023678-18023685, 18023707-18023768, 18023804-18023812, 18023830, 18023839-18023854, 18023871, 18023880-18024199, 18024211-18024283, 18024291-18024465, 18024472-18024708, 18024714-18024720, 18024728-18024770, 18024776-18024887, 18024906-18024932, 18024942-18025010, 18025028-18025097, 18025137-18025271, 18025297-18025337, 18025363-18025381, 18025410-18025433, 18025450-18025476, 18025495-18025496, 18025501-18025505, 18025510, 18025536-18025551, 18025562-18025584, 18025619, 18025638-18025657, 18025675-18025681, 18027797-18027801, 18027873-18027879, 18029661-18029702, 18029766-18029770, 18039907-18039913, 18039999, 18043898-18043904, 18043975-18043979, 18044394, 18044971-18044994, 18045393-18045420, 18045433, 18045475-18045479, 18046077-18046084, 18046134, 18046909, 18047063, 18047066, 18047184-18047196, 18047213-18047241, 18049329-18049331, 18054821, 18057090-18057092, 18057095-18057097, 18057112, 18058520-18058521, 18061100-18061108, 18061111, 18061143-18061152, 18070969-18070971, 18082084-18082087, 18082092-18082094 |
| 309 | UNC119 | 17 | 0.75933609958506 | 174 | 723 | 26875041-26875045, 26875098, 26875106, 26879359-26879444, 26879472-26879517, 26879541-26879575 |
| 310 | NEK8 | 17 | 0.95430495430495 | 95 | 2079 | 27055875-27055878, 27064518, 27064866-27064885, 27064989, 27067529-27067530, 27067537, 27067592, 27067595, 27067904, 27067911, 27067922, 27067948-27067979, 27067987, 27068161, 27068164, 27068236-27068237, 27068539-27068561, 27069005 |
| 311 | SLC6A4 | 17 | 0.97939778129952 | 39 | 1893 | 28543171, 28543176-28543196, 28543218-28543234 |
| 312 | HNF1B | 17 | 0.9247311827957 | 126 | 1674 | 36091627, 36091632, 36093714, 36099444-36099453, 36099456, 36104532-36104565, 36104626-36104666, 36104680-36104704, 36104734-36104742, 36104848, 36104853, 36104857 |
| 313 | TCAP | 17 | 0.27777777777778 | 364 | 504 | 37821614-37821618, 37821625, 37821637, 37821641-37821658, 37821692-37821722, 37821969-37822126, 37822152-37822174, 37822178-37822218, 37822263-37822267, 37822273-37822341, 37822350-37822361 |
| 314 | KRT14 | 17 | 0.91331923890063 | 123 | 1419 | 39739493-39739515, 39739575-39739579, 39741304-39741309, 39742602-39742648, 39742824, 39742976-39742982, 39743006-39743030, 39743078-39743086 |
| 315 | KRT16 | 17 | 0.9803094233474 | 28 | 1422 | 39766280-39766281, 39768490-39768496, 39768740-39768746, 39768897-39768908 |
| 316 | KRT17 | 17 | 0.89068514241724 | 142 | 1299 | 39776977, 39779218-39779221, 39779284, 39780330-39780333, 39780356-39780377, 39780394-39780398, 39780434-39780440, 39780496-39780535, 39780582-39780591, 39780599-39780600, 39780627-39780648, 39780684-39780690, 39780725-39780740, 39780761 |
| 317 | JUP | 17 | 0.97899910634495 | 47 | 2238 | 39912016-39912019, 39912024-39912030, 39913713-39913718, 39915027, 39919356, 39919418-39919424, 39919502, 39920996, 39927900-39927904, 39927984-39927996, 39928050 |
| 318 | FKBP10 | 17 | 0.72784448256146 | 476 | 1749 | 39969308-39969309, 39969316-39969322, 39969327-39969338, 39969345-39969357, 39969360, 39969381-39969425, 39969471-39969495, 39969500, 39973349, 39973396-39973400, 39973407-39973418, 39973447-39973455, 39974341-39974387, 39974436-39974513, 39974520-39974530, 39974634-39974643, 39974670-39974690, 39974716, 39974723-39974730, 39975532-39975552, 39975612, 39975912, 39975916, 39976584, 39976675-39976693, 39976700-39976702, 39976707-39976709, 39977220-39977231, 39977263-39977264, 39977279-39977292, 39977306-39977329, 39977909, 39977920-39977924, 39977930, 39977933, 39978057, 39978062, 39978475-39978487, 39978601-39978627, 39978646-39978660 |
| 319 | STAT5B | 17 | 0.9758883248731 | 57 | 2364 | 40359615, 40359669-40359675, 40369482, 40371359, 40371397-40371398, 40371406, 40371415, 40371432-40371453, 40371748, 40371780-40371799 |
| 320 | NAGLU | 17 | 0.9413082437276 | 131 | 2232 | 40688325-40688330, 40688344, 40688399-40688400, 40688419-40688421, 40688465, 40688488-40688512, 40688521-40688558, 40688582-40688622, 40688648-40688660, 40689473 |
| 321 | WNK4 | 17 | 0.9994640943194 | 2 | 3732 | 40932896-40932897 |
| 322 | BRCA1 | 17 | 0.99946949602122 | 3 | 5655 | 41219647, 41223069, 41226362 |
| 323 | NAGS | 17 | 0.96261682242991 | 60 | 1605 | 42082180-42082182, 42082237-42082245, 42082248-42082256, 42083198, 42083203-42083209, 42083408, 42083414, 42083419, 42083424-42083426, 42083476-42083492, 42083499-42083502, 42083506-42083508, 42083968 |
| 324 | SLC4A1 | 17 | 0.99305555555556 | 19 | 2736 | 42331988-42331989, 42333071, 42334899-42334900, 42335074-42335087 |
| 325 | GRN | 17 | 0.90740740740741 | 165 | 1782 | 42426579, 42426610-42426619, 42426666-42426668, 42427817-42427837, 42428138-42428143, 42428785-42428792, 42428920, 42428926-42428939, 42429087-42429092, 42429402-42429409, 42429424, 42429544-42429546, 42429597, 42429608, 42429709-42429721, 42429736, 42429865-42429869, 42429900-42429905, 42430029-42430055, 42430075-42430093, 42430153-42430162 |
| 326 | ITGA2B | 17 | 0.80897435897436 | 596 | 3120 | 42451746-42451786, 42451825-42451838, 42452043-42452083, 42452103-42452128, 42452366, 42452376, 42452379, 42452416-42452444, 42452454, 42452459, 42452477-42452479, 42452960-42452975, 42453012-42453015, 42453045-42453084, 42453266-42453270, 42453342, 42453511-42453513, 42453517, 42453701-42453744, 42455126-42455130, 42455739-42455743, 42455747, 42456032, 42457090-42457091, 42460861-42460888, 42460900-42460913, 42460942-42461013, 42461050-42461072, 42461276-42461298, 42461467-42461474, 42461491-42461497, 42461500, 42461910-42461924, 42462327, 42462543, 42462576-42462577, 42462670-42462676, 42462686-42462703, 42462919-42462930, 42462969-42463001, 42463043-42463052, 42463064, 42463431-42463437, 42466779-42466796, 42466832-42466839 |
| 327 | GFAP | 17 | 0.99923017705928 | 1 | 1299 | 42992553 |
| 328 | PLEKHM1 | 17 | 0.99810785241249 | 6 | 3171 | 43515241, 43515320-43515324 |
| 329 | MAPT | 17 | 0.89060489060489 | 255 | 2331 | 44051804, 44051819-44051822, 44051830-44051837, 44055741-44055757, 44055778, 44055785-44055801, 44060575-44060578, 44060683-44060718, 44060787-44060788, 44060794, 44060801, 44060847-44060850, 44060861-44060902, 44060947-44060958, 44061025-44061026, 44061067-44061098, 44061147-44061151, 44061154-44061171, 44061214-44061221, 44061237-44061272, 44061288, 44073803, 44091684, 44091690 |
| 330 | WNT3 | 17 | 0.84550561797753 | 165 | 1068 | 44845741-44845744, 44845800-44845801, 44845807, 44845908-44845913, 44846134-44846140, 44847341-44847352, 44851034-44851069, 44851224-44851270, 44895889-44895938 |
| 331 | SGCA | 17 | 0.9914089347079 | 10 | 1164 | 48247622-48247625, 48252665, 48252676, 48252746-48252748, 48252788 |
| 332 | COL1A1 | 17 | 0.98430034129693 | 69 | 4395 | 48263185, 48264046-48264050, 48264082-48264093, 48265255, 48266764-48266813 |
| 333 | RAD51C | 17 | 0.96021220159151 | 45 | 1131 | 56770107-56770110, 56787277-56787305, 56787324, 56787333-56787339, 56787344, 56787348-56787350 |
| 334 | TRIM37 | 17 | 0.99654576856649 | 10 | 2895 | 57105921-57105926, 57119185-57119188 |
| 335 | AP1S2 | 17 | 0.9375 | 39 | 624 | 58179541-58179566, 58179841-58179853 |
| 336 | CA4 | 17 | 0.93929712460064 | 57 | 939 | 58227396-58227429, 58236685-58236696, 58236702-58236710, 58236733, 58236751 |
| 337 | TBX4 | 17 | 0.98595848595849 | 23 | 1638 | 59534012-59534034 |
| 338 | ACE | 17 | 0.86228003060444 | 540 | 3921 | 61554456-61554532, 61554540-61554601, 61554611-61554624, 61554636-61554681, 61554689-61554704, 61555394, 61555411, 61555445-61555459, 61556433-61556461, 61557150-61557159, 61557211, 61557843-61557854, 61557882, 61558534, 61559019, 61559889-61559890, 61560039-61560047, 61560518-61560534, 61561313, 61561316, 61561702, 61561708-61561710, 61561722, 61561785, 61561793-61561796, 61561806, 61561814-61561816, 61561819-61561823, 61561844-61561875, 61561880-61561886, 61562597-61562610, 61562698, 61562731-61562733, 61563985, 61564060-61564068, 61564075, 61564395-61564434, 61566101-61566133, 61566149-61566152, 61566325-61566338, 61566378-61566380, 61566386, 61566408, 61566484-61566486, 61568573, 61574279, 61574564-61574598 |
| 339 | TACO1 | 17 | 0.99888143176734 | 1 | 894 | 61678566 |
| 340 | SCN4A | 17 | 0.99981854472872 | 1 | 5511 | 62019292 |
| 341 | COG1 | 17 | 0.96432212028542 | 105 | 2943 | 71189209-71189243, 71189274-71189276, 71189289-71189312, 71189340-71189367, 71189393-71189397, 71189423-71189424, 71189434-71189438, 71189441, 71193189, 71193461 |
| 342 | DNAI2 | 17 | 0.82453245324532 | 319 | 1818 | 72277970-72277978, 72278045, 72278116-72278127, 72297194-72297211, 72297239-72297250, 72297256, 72301414, 72301423, 72301427-72301429, 72301453-72301461, 72305430-72305454, 72305484-72305512, 72306156-72306167, 72306172-72306175, 72306196-72306254, 72308207-72308240, 72308282-72308316, 72308327-72308329, 72308347-72308358, 72308369, 72310302-72310319, 72310327-72310346 |
| 343 | USH1G | 17 | 0.54689754689755 | 628 | 1386 | 72915561-72915615, 72915643-72915670, 72915741-72915747, 72915769-72915790, 72915810-72915911, 72915989, 72916001, 72916004-72916008, 72916037-72916047, 72916078-72916129, 72916154-72916225, 72916270-72916280, 72916316-72916346, 72916401-72916507, 72916545-72916551, 72916597-72916605, 72916612, 72916656-72916663, 72916702-72916758, 72916766, 72919010, 72919021-72919030, 72919036-72919040, 72919063-72919065, 72919080, 72919091-72919096, 72919109, 72919129-72919137, 72919144-72919145, 72919167-72919168 |
| 344 | SLC25A19 | 17 | 0.99688473520249 | 3 | 963 | 73274294, 73274330-73274331 |
| 345 | TSEN54 | 17 | 0.61543327008223 | 608 | 1581 | 73512642-73512697, 73512827-73512991, 73513090-73513153, 73513242-73513250, 73513256-73513295, 73513321-73513325, 73513638-73513736, 73515079-73515082, 73517892-73517903, 73517934, 73517947, 73517969, 73517979-73518019, 73518129-73518135, 73518159-73518165, 73518284-73518324, 73518327-73518328, 73518337-73518371, 73518381-73518398 |
| 346 | ITGB4 | 17 | 0.61930883159627 | 2082 | 5469 | 73720813-73720824, 73723579-73723586, 73723745, 73725399, 73726330-73726390, 73726441-73726516, 73726540-73726585, 73726956-73727006, 73727018-73727024, 73727327-73727328, 73727370-73727381, 73727408-73727411, 73727426-73727449, 73727924, 73727960-73727964, 73728001, 73728004-73728031, 73728275-73728320, 73729611-73729637, 73729664, 73729674-73729692, 73732187, 73732397, 73732422, 73732448-73732455, 73732666, 73732681-73732682, 73733619-73733622, 73733655-73733660, 73733667, 73733670, 73733682-73733688, 73735753, 73735760, 73735766, 73735970-73736014, 73736039-73736046, 73736088, 73736110, 73736126-73736152, 73736439-73736440, 73736459, 73736475-73736502, 73736517-73736542, 73736922-73736932, 73738422-73738443, 73738464-73738466, 73738471-73738490, 73738519-73738520, 73738553-73738563, 73738568, 73738665, 73738696-73738714, 73738728, 73738742, 73738750-73738753, 73738762-73738766, 73738781-73738822, 73739801-73739820, 73739832-73739857, 73739876, 73739880, 73739896-73739910, 73744922-73744927, 73744940-73744947, 73744981-73745004, 73745053-73745056, 73745065-73745083, 73745090, 73745109, 73745118-73745126, 73746215-73746234, 73746267-73746271, 73746305, 73746814-73746832, 73746844-73746846, 73746859-73746878, 73746892-73746896, 73746905-73746906, 73746909-73746911, 73746913-73746941, 73747092, 73747096, 73747106-73747126, 73747164-73747175, 73747182, 73748262-73748264, 73748282-73748288, 73748348-73748367, 73748394-73748407, 73748428-73748437, 73748527-73748572, 73748590-73748611, 73748619-73748628, 73748634-73748646, 73749846-73749882, 73749894-73749910, 73749929-73750013, 73750031, 73750034, 73750042-73750055, 73750657-73750671, 73750678-73750746, 73750756, 73750815-73750825, 73750854-73750859, 73750872, 73750881, 73750884-73750895, 73751782, 73751788, 73751802-73751841, 73751869-73751875, 73751888-73751926, 73752530-73752535, 73752538-73752620, 73752624, 73752682-73752696, 73752785-73752786, 73752795-73752820, 73752840-73752871, 73752889-73752925, 73753024-73753188, 73753294-73753325, 73753332-73753391, 73753497-73753554, 73753577-73753591, 73753613-73753629 |
| 347 | GALK1 | 17 | 0.56149279050042 | 517 | 1179 | 73754137-73754141, 73754159-73754208, 73754291-73754435, 73754530-73754634, 73754652-73754680, 73758799, 73759111-73759116, 73759119-73759144, 73759153-73759197, 73759224-73759229, 73759407-73759408, 73759488-73759520, 73761070-73761086, 73761126-73761145, 73761178-73761204 |
| 348 | UNC13D | 17 | 0.46959975557592 | 1736 | 3273 | 73824046-73824136, 73824143-73824167, 73824912-73824927, 73824974-73825021, 73825046-73825064, 73826109-73826143, 73826191-73826232, 73826443-73826555, 73826563, 73826659-73826684, 73826703-73826742, 73827179-73827182, 73827212-73827235, 73827324-73827344, 73827350-73827358, 73827371-73827381, 73827383-73827386, 73827398, 73827407-73827429, 73829047-73829062, 73829125, 73830158-73830170, 73830192, 73830205-73830207, 73830416, 73830421-73830446, 73830455-73830476, 73830506-73830516, 73830548-73830610, 73830699-73830739, 73830748-73830749, 73830773-73830797, 73831021-73831050, 73831071-73831078, 73831502-73831546, 73831597, 73831734-73831748, 73831788-73831791, 73831801-73831804, 73831806-73831807, 73831813-73831818, 73831834, 73831838, 73831844-73831858, 73831963-73831977, 73832093-73832136, 73832145-73832156, 73832162-73832171, 73832290, 73832293-73832313, 73832322-73832337, 73832420-73832426, 73832436-73832441, 73832455-73832456, 73832466-73832470, 73832509-73832510, 73832656-73832682, 73832701-73832707, 73832716-73832777, 73832884-73832898, 73832908, 73832935-73832988, 73835940-73835963, 73836018-73836022, 73836099-73836123, 73836130-73836139, 73836158-73836182, 73836379-73836400, 73836588-73836589, 73836847-73836863, 73837043-73837047, 73838514-73838573, 73838590-73838601, 73838629, 73838632-73838633, 73838637-73838645, 73838671-73838694, 73838939-73838958, 73838981-73838999, 73839095-73839096, 73839111-73839154, 73839240-73839262, 73839294-73839347, 73839565-73839600, 73840302-73840323, 73840339-73840347, 73840372-73840418 |
| 349 | SEPT9 | 17 | 0.58262350936968 | 735 | 1761 | 75277618-75277636, 75398171, 75398277, 75398334-75398342, 75398372, 75398375, 75398439-75398458, 75398555, 75398598-75398637, 75398730, 75398754-75398785, 75478226-75478262, 75478294, 75478298, 75478307, 75478311, 75478330-75478373, 75478388-75478417, 75483559-75483634, 75484322-75484328, 75484837-75484838, 75484841-75484879, 75484903-75484946, 75486827-75486841, 75486860-75486898, 75486925-75486941, 75488703-75488733, 75488750-75488782, 75488798, 75489062-75489065, 75489109-75489158, 75494605-75494740 |
| 350 | GAA | 17 | 0.92759706190976 | 207 | 2859 | 78078453-78078461, 78078573-78078582, 78078629, 78078675-78078720, 78078724-78078727, 78078792-78078798, 78078894-78078911, 78078929, 78079584-78079590, 78079597, 78079669, 78081460-78081469, 78081484, 78082100-78082120, 78082191-78082194, 78082331, 78083777-78083791, 78084549-78084550, 78086378-78086379, 78086446-78086453, 78091457-78091490, 78092145-78092148 |
| 351 | SGSH | 17 | 0.61365142478463 | 583 | 1509 | 78184251-78184279, 78184297, 78184335-78184340, 78184359, 78184367-78184375, 78184378, 78184419-78184444, 78184453-78184472, 78184487-78184518, 78184542-78184553, 78184558-78184565, 78184615-78184647, 78184696-78184700, 78184786-78184801, 78185870-78185881, 78185894, 78185938-78185950, 78185977-78186016, 78187603-78187633, 78187971-78187972, 78187993-78188053, 78188062-78188082, 78188101-78188127, 78188414, 78188467-78188473, 78188497-78188531, 78188559-78188564, 78188846-78188870, 78190858-78190895, 78190902-78190919, 78190949-78190958, 78194036-78194042, 78194050, 78194069-78194075, 78194079-78194091, 78194093, 78194102-78194107, 78194112 |
| 352 | ACTG1 | 17 | 0.33687943262411 | 748 | 1128 | 79477716-79477722, 79477744-79477763, 79477787-79477788, 79477795, 79477809-79477859, 79477953-79478039, 79478061-79478081, 79478227-79478259, 79478276, 79478286-79478287, 79478293, 79478296-79478298, 79478301, 79478309-79478334, 79478344-79478474, 79478490, 79478497-79478498, 79478504, 79478532-79478556, 79478577-79478629, 79478929-79478954, 79478960-79479036, 79479061-79479084, 79479091-79479148, 79479258-79479280, 79479294-79479317, 79479334-79479380 |
| 353 | FSCN2 | 17 | 0 | 1479 | 1479 | 79495558-79496383, 79502078-79502234, 79503172-79503293, 79503648-79503815, 79503901-79504106 |
| 354 | AFG3L2 | 18 | 0.94152046783626 | 140 | 2394 | 12366982-12366987, 12367344, 12370882-12370909, 12371684-12371689, 12376968-12376983, 12376991-12377017, 12377026-12377081 |
| 355 | NPC1 | 18 | 0.99270263226479 | 28 | 3837 | 21148851-21148852, 21166280-21166281, 21166284-21166307 |
| 356 | LAMA3 | 18 | 0.99120175964807 | 88 | 10002 | 21269648-21269689, 21269692, 21269700-21269733, 21269765-21269774, 21293884 |
| 357 | DSG2 | 18 | 0.99851057491808 | 5 | 3357 | 29078222-29078224, 29078249, 29078252 |
| 358 | LOXHD1 | 18 | 0.99939722724533 | 4 | 6636 | 44104518-44104521 |
| 359 | MYO5B | 18 | 0.99981972237245 | 1 | 5547 | 47721137 |
| 360 | ATP8B1 | 18 | 0.99387646432375 | 23 | 3756 | 55315859-55315865, 55322545, 55338750-55338763, 55364852 |
| 361 | CCBE1 | 18 | 0.95741195741196 | 52 | 1221 | 57134021-57134053, 57134072, 57134086-57134103 |
| 362 | TNFRSF11A | 18 | 0.97514856834144 | 46 | 1851 | 59992592-59992637 |
| 363 | CTDP1 | 18 | 0.88669438669439 | 327 | 2886 | 77439948-77440136, 77440154-77440211, 77440249-77440261, 77456024-77456034, 77473009, 77474715-77474716, 77475007, 77475013-77475018, 77496454-77496458, 77496481-77496521 |
| 364 | ELANE | 19 | 0.1044776119403 | 720 | 804 | 852329-852369, 852389, 852876-853032, 853262-853403, 855565, 855585-855630, 855633, 855643-855794, 855958-856042, 856050-856051, 856054, 856058-856088, 856105-856164 |
| 365 | KISS1R | 19 | 0.55221386800334 | 536 | 1197 | 917503-917526, 917538-917601, 917606-917608, 917611-917614, 917618-917653, 917710-917714, 917726-917746, 918544-918668, 919874-919875, 919886, 919889-919891, 919896, 919929-920002, 920092-920106, 920295-920359, 920371-920391, 920417-920429, 920466-920467, 920538, 920582, 920642, 920652, 920662, 920685-920687, 920690-920738 |
| 366 | STK11 | 19 | 0.2273425499232 | 1006 | 1302 | 1206955-1206994, 1207011, 1207020-1207036, 1207086, 1207121-1207123, 1207196-1207202, 1218416-1218423, 1218465-1218499, 1219335-1219412, 1220372-1220433, 1220441-1220504, 1220580-1220693, 1220704-1220716, 1221212-1221339, 1221948-1222005, 1222984-1222998, 1223004-1223171, 1226453-1226646 |
| 367 | NDUFS7 | 19 | 0.38473520249221 | 395 | 642 | 1383926-1383941, 1387816-1387819, 1387828, 1387837, 1388536, 1388538, 1388542-1388554, 1388557-1388561, 1388572-1388582, 1388587, 1388842-1388849, 1388868-1388869, 1388872-1388878, 1388895-1388896, 1388904-1388917, 1388926, 1388930, 1390870-1390878, 1390890-1390952, 1390959-1390965, 1391118-1391164, 1393247-1393328, 1395390-1395487 |
| 368 | GAMT | 19 | 0.22469135802469 | 628 | 810 | 1398675-1398970, 1398977-1399011, 1399014, 1399127, 1399139-1399146, 1399151-1399164, 1399194, 1399540-1399565, 1399792-1399797, 1399800-1399813, 1399829, 1399842-1399907, 1399919, 1399922-1399937, 1401295-1401357, 1401375-1401397, 1401408-1401410, 1401423-1401475 |
| 369 | RAX2 | 19 | 0.21081081081081 | 438 | 555 | 3770619-3770643, 3770655-3770828, 3770837-3770914, 3770921-3770957, 3771525-3771538, 3771546-3771547, 3771550, 3771564-3771648, 3771654, 3771672-3771688, 3771715-3771718 |
| 370 | MAP2K2 | 19 | 0.56026600166251 | 529 | 1203 | 4090596-4090632, 4090637, 4090654, 4090658, 4090669, 4090675-4090688, 4090690-4090693, 4090700, 4094451-4094483, 4094489-4094496, 4095386-4095447, 4097281-4097341, 4099199-4099332, 4099345, 4099370, 4099382, 4099385-4099386, 4099403, 4099411-4099412, 4101044, 4101081, 4102374-4102380, 4102449, 4110520, 4110526-4110528, 4110554-4110601, 4110627-4110630, 4117447-4117450, 4117566, 4123781-4123872 |
| 371 | NDUFA11 | 19 | 0.74413145539906 | 109 | 426 | 5894833-5894848, 5896486, 5896917-5896956, 5903623-5903664, 5903691-5903700 |
| 372 | TUBB4 | 19 | 0.95730337078652 | 57 | 1335 | 6495191-6495221, 6495450, 6495591-6495615 |
| 373 | C3 | 19 | 0.96654647435897 | 167 | 4992 | 6693493-6693498, 6694609, 6697440-6697441, 6707140-6707153, 6707158, 6707220-6707225, 6707231, 6707508-6707531, 6707846-6707867, 6709704, 6709727-6709773, 6709802-6709805, 6709842-6709852, 6713281, 6714005-6714008, 6714043-6714062, 6714177, 6714185 |
| 374 | INSR | 19 | 0.96842612677754 | 131 | 4149 | 7122645, 7132286-7132304, 7141710, 7152737-7152747, 7152767-7152833, 7152855-7152856, 7152904, 7184508, 7184563-7184567, 7293847-7293869 |
| 375 | MCOLN1 | 19 | 0.76993689041882 | 401 | 1743 | 7587637-7587638, 7587648-7587655, 7589860, 7593093, 7593141-7593142, 7593518, 7593546, 7593589, 7593715-7593716, 7593753, 7593819, 7593831-7593832, 7593846, 7593987-7593999, 7594002-7594004, 7594026-7594069, 7594476-7594496, 7594505-7594536, 7594560-7594561, 7594577, 7595173-7595206, 7595233-7595280, 7595296-7595300, 7595309-7595346, 7598409-7598462, 7598473-7598533, 7598661-7598681 |
| 376 | PNPLA6 | 19 | 0.64357429718876 | 1420 | 3984 | 7600437-7600463, 7600819-7600872, 7600890-7600906, 7601080, 7601084, 7601115-7601127, 7601138-7601153, 7601359-7601368, 7601396-7601408, 7604804-7604887, 7604911, 7604936, 7605035-7605081, 7605110, 7605113-7605118, 7605133, 7605564-7605596, 7605809-7605824, 7605833, 7605842-7605846, 7605849-7605851, 7605879-7605906, 7605930-7605937, 7606240-7606267, 7606283-7606320, 7606428-7606431, 7606458-7606536, 7606569-7606570, 7606870-7606949, 7607447-7607452, 7607461, 7607466-7607469, 7607496-7607522, 7607541-7607556, 7607653-7607654, 7607670, 7607682-7607685, 7607688-7607702, 7607712-7607809, 7607893-7607938, 7607944-7607953, 7607963-7607970, 7614799, 7614855-7614962, 7614988-7614998, 7615184-7615195, 7615202-7615315, 7615406, 7615433-7615456, 7615497-7615498, 7615507-7615509, 7615512-7615513, 7615524-7615526, 7615880-7615993, 7616248-7616275, 7616281, 7616284-7616323, 7618887-7618893, 7619139, 7619473-7619476, 7619496, 7619539-7619545, 7619846, 7619893-7619895, 7619937-7619945, 7620146-7620148, 7620179, 7620186, 7620210-7620225, 7620233-7620253, 7620595-7620608, 7622071-7622081 |
| 377 | STXBP2 | 19 | 0.81257014590348 | 334 | 1782 | 7702041-7702067, 7704617-7704624, 7704676, 7706608, 7706644-7706656, 7706680-7706695, 7706718, 7706724-7706739, 7706987-7707004, 7707102-7707119, 7707129-7707138, 7707144-7707149, 7707172-7707201, 7707315-7707328, 7707357-7707380, 7707389, 7707399-7707422, 7707661, 7707691-7707692, 7707929-7707930, 7707934, 7708051-7708053, 7709618-7709619, 7711149-7711169, 7711178-7711180, 7711197-7711226, 7712048-7712074, 7712121, 7712132-7712133, 7712255-7712256, 7712277, 7712301, 7712615-7712621 |
| 378 | ADAMTS10 | 19 | 0.98369565217391 | 54 | 3312 | 8649808-8649823, 8649862-8649863, 8650097-8650113, 8650118, 8650121-8650122, 8650353-8650359, 8650459-8650460, 8654172, 8670162-8670167 |
| 379 | TYK2 | 19 | 0.79769921436588 | 721 | 3564 | 10461788, 10463118-10463149, 10463173, 10463204, 10463226-10463227, 10463602-10463642, 10463656-10463665, 10463700-10463727, 10463733-10463752, 10463774, 10464204-10464264, 10464268, 10464294-10464296, 10464305-10464315, 10464319, 10464322, 10464726, 10464818-10464835, 10464897, 10465198, 10465204-10465209, 10465217, 10465229, 10465272, 10465275-10465277, 10467244-10467264, 10467280, 10467317, 10467328-10467330, 10468440-10468469, 10468475-10468517, 10468526-10468529, 10468532-10468537, 10468568, 10468593, 10468679-10468705, 10468714-10468723, 10468730, 10468776, 10468796-10468798, 10469891-10469914, 10469952-10469970, 10469973, 10473058-10473059, 10473062-10473074, 10473078-10473080, 10475293, 10475341-10475350, 10475416, 10475437-10475442, 10475596-10475602, 10476348, 10476381-10476387, 10476390-10476396, 10476430-10476441, 10476444, 10476538, 10477217-10477227, 10488890-10489082 |
| 380 | DNM2 | 19 | 0.97933409873708 | 54 | 2613 | 10828938-10828958, 10829069, 10883304, 10893697-10893699, 10893712, 10893728, 10897300-10897306, 10897351, 10897369-10897371, 10912968, 10912975, 10912979, 10922980, 10923033, 10923044-10923053 |
| 381 | LDLR | 19 | 0.7708091366628 | 592 | 2583 | 11200255, 11200285, 11211015, 11213340-11213341, 11215950-11215952, 11215955-11215958, 11215971, 11215985-11215992, 11215998-11216003, 11216006, 11216037-11216045, 11216055, 11216092-11216098, 11216135, 11216145-11216151, 11216184, 11216228, 11216236, 11216255-11216260, 11217296, 11217340, 11217344, 11218070, 11218074-11218077, 11218113-11218141, 11218155, 11218158-11218188, 11221328-11221369, 11221392-11221442, 11222203-11222204, 11222245-11222275, 11222298-11222315, 11223954, 11223970, 11223976-11223977, 11223982-11223997, 11224008-11224037, 11224071-11224088, 11224211, 11224238-11224257, 11224265, 11224274-11224315, 11226840-11226847, 11226865-11226885, 11227538-11227570, 11227586, 11227602, 11230790, 11230810, 11231117-11231118, 11231159-11231198, 11233850-11233866, 11233914-11233936, 11233941, 11233946, 11233996-11234017, 11240215, 11240259, 11240273, 11240339-11240346, 11241962-11241963 |
| 382 | LDLR | 19 | 0.96140350877193 | 11 | 285 | 11240339-11240346, 11241962-11241963, 11242126 |
| 383 | PRKCSH | 19 | 0.95274102079395 | 75 | 1587 | 11546939-11546968, 11548895-11548896, 11557964-11557973, 11558341-11558358, 11558546-11558549, 11559763, 11560218-11560227 |
| 384 | MAN2B1 | 19 | 0.92391304347826 | 231 | 3036 | 12758402-12758405, 12758411, 12759200-12759203, 12766509, 12766612-12766659, 12767799-12767803, 12767834, 12767842, 12767857, 12768260-12768295, 12768309-12768351, 12768369, 12768934, 12768943-12768948, 12769073-12769091, 12769116, 12769124, 12769145-12769146, 12769272-12769273, 12769280-12769324, 12775726, 12777464, 12777496, 12777499-12777500, 12777511-12777513 |
| 385 | GCDH | 19 | 0.99924069855733 | 1 | 1317 | 13007034 |
| 386 | CACNA1A | 19 | 0.87541550325755 | 937 | 7521 | 13318128-13318130, 13318139-13318158, 13318169-13318197, 13318230-13318245, 13318251-13318410, 13318432-13318455, 13318464-13318517, 13318531-13318824, 13318830-13318867, 13319570-13319574, 13319597-13319662, 13319692-13319697, 13319712, 13320180-13320187, 13335522-13335533, 13335555-13335557, 13335560-13335586, 13338245-13338249, 13338308-13338309, 13338312, 13409399-13409403, 13409462-13409467, 13409497-13409521, 13409584-13409594, 13409845-13409888, 13616876-13616901, 13616968-13617013 |
| 387 | NOTCH3 | 19 | 0.89262130347402 | 748 | 6966 | 15281322-15281329, 15284972-15284988, 15285020-15285035, 15285060-15285061, 15285065, 15285074, 15285077, 15285088-15285097, 15285128, 15285136, 15285189-15285190, 15288511-15288512, 15288516-15288527, 15288533-15288538, 15288553-15288554, 15288727, 15288809, 15288818, 15288821, 15291969-15291973, 15299807-15299808, 15299918, 15299940-15299950, 15299960, 15299980-15299984, 15302246-15302325, 15302335, 15302363-15302364, 15302377-15302398, 15302429-15302433, 15302447, 15302451-15302457, 15302460, 15302462-15302463, 15302556-15302598, 15302607-15302632, 15302771-15302797, 15302817-15302840, 15302844, 15302848-15302849, 15302875, 15302892-15302944, 15302950-15302985, 15302991-15303049, 15303063-15303106, 15303225, 15303239-15303250, 15303256-15303260, 15303308-15303322, 15303326, 15308339-15308386, 15311599-15311716 |
| 388 | JAK3 | 19 | 0.87111111111111 | 435 | 3375 | 17937633-17937637, 17940917-17940938, 17940951-17940996, 17941020-17941027, 17941328, 17941370-17941386, 17941411-17941417, 17942131-17942138, 17950339, 17950343-17950344, 17950362, 17952225-17952237, 17953162-17953166, 17953189-17953215, 17953244-17953245, 17953250, 17953254-17953270, 17953273-17953274, 17953303-17953317, 17953343-17953369, 17953836-17953850, 17953856, 17953872, 17953886-17953910, 17953938-17953961, 17953980, 17954208-17954248, 17954586-17954593, 17954694-17954709, 17955126-17955165, 17955178-17955213 |
| 389 | SLC5A5 | 19 | 0.86024844720497 | 270 | 1932 | 17983129-17983149, 17983260-17983263, 17983290-17983316, 17983337-17983377, 17984947, 17984949, 17984963, 17985303-17985304, 17985473, 17986761-17986781, 17986867-17986871, 17988564, 17988843-17988848, 17991690, 17991694-17991700, 17992802-17992813, 17992976-17992981, 17992994-17992998, 17993011-17993028, 17994526-17994555, 17994659, 17994705, 17994786, 17994796-17994801, 17994812-17994813, 17999162-17999196, 17999229, 17999242, 17999247-17999248, 17999253-17999261 |
| 390 | IL12RB1 | 19 | 0.89693313222725 | 205 | 1989 | 18177384, 18177442, 18177461-18177468, 18180370-18180376, 18180431, 18180434-18180437, 18180470, 18182957-18182958, 18182998-18183005, 18183089-18183090, 18183126, 18184336, 18186575, 18186583-18186588, 18186630, 18186636-18186640, 18187107-18187114, 18188328, 18188336-18188357, 18188360-18188368, 18191730-18191736, 18191768-18191811, 18197570-18197633 |
| 391 | COMP | 19 | 0.77044854881266 | 522 | 2274 | 18893727, 18895084-18895093, 18896483-18896498, 18896537, 18896547, 18896560-18896563, 18896566-18896567, 18896573-18896582, 18896649, 18896786-18896810, 18896841-18896865, 18897097, 18898300-18898329, 18899028-18899042, 18899057-18899058, 18899069-18899070, 18899076, 18899095-18899108, 18899219-18899240, 18899263, 18899267-18899281, 18899292, 18899297, 18899300-18899304, 18899411-18899494, 18899502-18899509, 18899544-18899559, 18899701-18899711, 18899995-18900020, 18900033, 18900069-18900076, 18900784-18900785, 18900788-18900822, 18900836-18900842, 18900858-18900886, 18900912, 18900915-18900923, 18901401-18901422, 18901659-18901663, 18901697, 18902000-18902012, 18902027-18902064 |
| 392 | CEBPA | 19 | 0.54596100278552 | 489 | 1077 | 33792383-33792394, 33792482-33792494, 33792584-33792612, 33792646, 33792737-33792740, 33792751-33792789, 33792795-33792804, 33792846-33793061, 33793134-33793201, 33793212, 33793225-33793320 |
| 393 | SCN1B | 19 | 0.96902106567534 | 25 | 807 | 35521725-35521730, 35521746-35521764 |
| 394 | HAMP | 19 | 0.95686274509804 | 11 | 255 | 35773496-35773506 |
| 395 | MAG | 19 | 0.87878787878788 | 228 | 1881 | 35786524, 35786786-35786808, 35790488-35790489, 35790495-35790500, 35790531-35790566, 35790593-35790597, 35790614-35790659, 35790686-35790724, 35790736, 35790743-35790753, 35791064-35791086, 35791107, 35791111-35791123, 35791135, 35791139-35791141, 35791172, 35791177-35791186, 35791189-35791190, 35793577, 35802892-35802894 |
| 396 | PRODH2 | 19 | 0.94972067039106 | 81 | 1611 | 36290973-36291006, 36291119-36291124, 36297360-36297379, 36297407-36297414, 36297694-36297706 |
| 397 | TYROBP | 19 | 0.53982300884956 | 156 | 339 | 36398132-36398142, 36398348-36398371, 36398380-36398418, 36398430, 36398463-36398482, 36399070-36399130 |
| 398 | SDHAF1 | 19 | 0.65804597701149 | 119 | 348 | 36486177-36486185, 36486217-36486221, 36486225-36486232, 36486235, 36486238, 36486242, 36486254-36486272, 36486312-36486351, 36486406, 36486409, 36486417, 36486465-36486476, 36486505-36486524 |
| 399 | WDR62 | 19 | 0.9339457567804 | 302 | 4572 | 36549719, 36557159-36557160, 36573973, 36579961, 36579973-36579977, 36580128-36580155, 36580174, 36582102-36582106, 36582348, 36590512-36590514, 36592577, 36593027-36593053, 36594058-36594070, 36594379, 36594437-36594463, 36594501-36594504, 36594516, 36594606, 36594617, 36594657-36594659, 36594863-36594871, 36594878-36594883, 36595436-36595439, 36595671-36595721, 36595739-36595758, 36595835-36595914, 36595921-36595925 |
| 400 | RYR1 | 19 | 0.94820400873189 | 783 | 15117 | 38931394-38931395, 38931401-38931402, 38931433-38931434, 38931444, 38931488-38931504, 38937381, 38939305, 38979822, 38980004, 38980010-38980011, 38983147-38983149, 38983155, 38983228, 38985152-38985158, 38985235, 38986870, 38986898-38986929, 38987066, 38987079, 38987119, 38987147-38987170, 38987500-38987553, 38990338, 38990344, 38990350, 38990367-38990370, 38990432-38990435, 38990442-38990447, 38990458, 38993177, 38993240, 38998423, 38998427, 39003057-39003060, 39055600-39055603, 39055612-39055646, 39055655, 39055684-39055695, 39055702-39055705, 39055711-39055732, 39055755-39055879, 39055900-39056083, 39056138-39056141, 39056156-39056158, 39056169-39056170, 39056184-39056258, 39056270-39056353, 39075583-39075605, 39075619, 39075624-39075625, 39075641, 39075659-39075671, 39075696-39075698, 39075707, 39076606 |
| 401 | ACTN4 | 19 | 0.81030701754386 | 519 | 2736 | 39138399, 39138407, 39138413-39138417, 39138426-39138463, 39138472-39138531, 39138538-39138547, 39205200, 39207814, 39207823, 39207937-39207948, 39208621, 39208705-39208707, 39214267, 39214345-39214362, 39214626-39214637, 39214648-39214701, 39214852, 39214857-39214858, 39214868, 39214885-39214912, 39214936, 39214953-39214979, 39215105, 39215151-39215189, 39216472-39216494, 39216497, 39216500, 39217597-39217605, 39217735, 39218599, 39218611, 39218614, 39218640-39218666, 39219636-39219643, 39219719-39219724, 39219727-39219730, 39219780-39219790, 39219930-39219994, 39220032-39220072 |
| 402 | DLL3 | 19 | 0.93968766828218 | 112 | 1857 | 39993456, 39993461, 39993527-39993568, 39993614-39993638, 39994824-39994841, 39994866-39994879, 39997821-39997826, 39998026-39998029, 39998045 |
| 403 | PRX | 19 | 0.99361605107159 | 28 | 4386 | 40909678-40909681, 40909694, 40909709-40909711, 40909750-40909769 |
| 404 | TGFB1 | 19 | 0.99062233589088 | 11 | 1173 | 41854258, 41854314-41854317, 41858921, 41858926-41858930 |
| 405 | BCKDHA | 19 | 0.95067264573991 | 66 | 1338 | 41919986, 41925163-41925166, 41925170-41925175, 41928085-41928091, 41928199, 41928209, 41928227-41928231, 41928236, 41928652, 41929009-41929011, 41929023-41929027, 41929037-41929039, 41929052-41929053, 41929064-41929066, 41930369, 41930421, 41930430-41930436, 41930448-41930455, 41930495, 41930498-41930502 |
| 406 | ATP1A3 | 19 | 0.99564980967917 | 16 | 3678 | 42471002, 42471005-42471011, 42471320-42471321, 42471357, 42471362-42471365, 42471382 |
| 407 | ETHE1 | 19 | 0.96862745098039 | 24 | 765 | 44012096-44012115, 44012980-44012983 |
| 408 | BCAM | 19 | 0.939586645469 | 114 | 1887 | 45312382-45312455, 45314524, 45322860-45322861, 45323986, 45324023-45324044, 45324055, 45324061, 45324070-45324079, 45324177-45324178 |
| 409 | APOE | 19 | 0.94129979035639 | 56 | 954 | 45411933-45411963, 45412210-45412217, 45412256, 45412364-45412379 |
| 410 | BLOC1S3 | 19 | 0.55829228243021 | 269 | 609 | 45682558-45682601, 45682652-45682699, 45682721, 45682737-45682741, 45682748-45682753, 45682757, 45682797, 45682800-45682803, 45682808-45682814, 45682834, 45682841-45682847, 45682878-45682880, 45682897-45682937, 45682982-45683005, 45683028-45683072, 45683093-45683114, 45683155-45683163 |
| 411 | ERCC2 | 19 | 0.75120455540955 | 568 | 2283 | 45854887-45854902, 45854935-45854941, 45854977, 45855501-45855502, 45855532, 45855588, 45855594, 45855764-45855765, 45855898-45855907, 45856043-45856055, 45856364, 45856384-45856399, 45856513-45856520, 45858019-45858020, 45858080-45858093, 45860583, 45860744-45860745, 45864782-45864783, 45864854-45864886, 45867001-45867035, 45867064-45867084, 45867103, 45867109-45867140, 45867151-45867169, 45867244-45867249, 45867259-45867270, 45867277-45867316, 45867325-45867377, 45867497-45867540, 45867570-45867589, 45867682-45867712, 45868096-45868125, 45868196, 45868207-45868212, 45868319-45868350, 45868370-45868391, 45873436, 45873439-45873460, 45873489-45873490, 45873794-45873798 |
| 412 | SIX5 | 19 | 0.45540540540541 | 1209 | 2220 | 46268759-46268762, 46268803, 46268811, 46268817-46268828, 46268849-46268877, 46268890-46268892, 46268904-46268951, 46268966-46268987, 46269019, 46269052-46269080, 46269088-46269098, 46269116, 46269123-46269128, 46269144-46269150, 46269164-46269194, 46269221-46269223, 46269231, 46269261, 46269282-46269283, 46269291, 46269307-46269314, 46269608-46269609, 46269639-46269690, 46269718-46269752, 46269763-46269770, 46269813-46269845, 46269865-46269919, 46269936-46269987, 46270016-46270032, 46270063-46270074, 46270104-46270121, 46270142-46270160, 46270186-46270202, 46270253-46270301, 46270322-46270413, 46271310-46271324, 46271344-46271356, 46271365-46271417, 46271425-46271428, 46271464-46271509, 46271572-46271620, 46271643-46271761, 46271786, 46271798-46271923, 46271942-46271986, 46272007-46272041, 46272044, 46272053, 46272065-46272082 |
| 413 | DMPK | 19 | 0.8021164021164 | 374 | 1890 | 46273778-46273794, 46273849-46273871, 46273877-46273898, 46274235-46274318, 46278235-46278248, 46280622-46280628, 46280769-46280772, 46280834-46280840, 46280843-46280848, 46281012, 46281042-46281046, 46281424-46281448, 46281475-46281478, 46281776-46281779, 46281790-46281797, 46281809, 46281836-46281867, 46281883-46281894, 46282553, 46282556, 46282601, 46282604-46282605, 46282609-46282617, 46283110-46283113, 46283124-46283125, 46285451-46285465, 46285523-46285550, 46285576-46285610 |
| 414 | FKRP | 19 | 0.38172043010753 | 920 | 1488 | 47258708-47258739, 47258791-47258802, 47258808-47258810, 47258814-47258816, 47258829-47258859, 47258912-47258919, 47258942-47258977, 47259008-47259035, 47259038-47259050, 47259060-47259101, 47259104-47259145, 47259154, 47259168-47259191, 47259206, 47259213, 47259216-47259224, 47259250-47259277, 47259282-47259310, 47259333-47259364, 47259383-47259527, 47259554-47259558, 47259561-47259582, 47259588-47259594, 47259602-47259769, 47259795-47259801, 47259811-47259854, 47259918, 47259923-47259938, 47259962-47259972, 47259997-47260003, 47260006-47260023, 47260028-47260062, 47260084-47260091, 47260101, 47260137-47260157, 47260167-47260195 |
| 415 | DBP | 19 | 0.33946830265849 | 646 | 978 | 49134094-49134116, 49134125-49134137, 49134161-49134211, 49134224, 49134243-49134272, 49136825-49136912, 49138837-49139044, 49139052-49139159, 49139172, 49139177-49139185, 49139188-49139228, 49140179-49140251 |
| 416 | BCAT2 | 19 | 0.92790500424088 | 85 | 1179 | 49303064, 49303068-49303074, 49303085-49303086, 49303090, 49303244-49303251, 49303286-49303288, 49303466-49303513, 49309786-49309800 |
| 417 | FTL | 19 | 0.85037878787879 | 79 | 528 | 49468805, 49468854-49468866, 49469027-49469028, 49469076, 49469138-49469173, 49469591-49469608, 49469870-49469875, 49469987-49469988 |
| 418 | GYS1 | 19 | 0.8256549232159 | 386 | 2214 | 49472666-49472669, 49472694-49472723, 49473052-49473059, 49473831-49473833, 49473883-49473888, 49481224-49481230, 49484793-49484796, 49484889-49484891, 49485584, 49485977-49486010, 49486040-49486059, 49489159-49489172, 49489175, 49489227-49489231, 49489272, 49490482-49490483, 49490597-49490603, 49494559-49494590, 49494622-49494740, 49496252-49496254, 49496279-49496347, 49496357-49496369 |
| 419 | MED25 | 19 | 0.77807486631016 | 498 | 2244 | 50321599-50321673, 50321682-50321688, 50321828-50321858, 50322429-50322431, 50322447, 50322513-50322516, 50332290, 50333186-50333205, 50333774-50333784, 50333853-50333855, 50334083-50334085, 50334095, 50334098, 50334110-50334117, 50334123-50334144, 50335373-50335414, 50338243-50338270, 50338310, 50338400-50338402, 50338418-50338434, 50338791-50338802, 50338829, 50338835-50338838, 50338984-50338988, 50339015-50339071, 50339177-50339202, 50339485-50339558, 50339564-50339565, 50339568, 50339586-50339603, 50339633, 50340106-50340117, 50340138, 50340141, 50340192 |
| 420 | PNKP | 19 | 0.95402298850575 | 72 | 1566 | 50364948-50364951, 50365641-50365647, 50365795-50365820, 50370319-50370325, 50370395, 50370399, 50370411-50370415, 50370419-50370437, 50370459-50370460 |
| 421 | MYH14 | 19 | 0.96563573883162 | 210 | 6111 | 50733811-50733817, 50747528-50747534, 50752982-50753004, 50753908-50753920, 50758546, 50758555, 50764732-50764752, 50764780, 50764811-50764813, 50764867-50764892, 50766585-50766629, 50766650-50766655, 50766662, 50770135-50770141, 50770225, 50770231, 50770235, 50789912-50789925, 50789935, 50792762-50792764, 50792805-50792809, 50795547-50795549, 50795628-50795646 |
| 422 | KCNC3 | 19 | 0.49428320140721 | 1150 | 2274 | 50823526-50823529, 50823544-50823546, 50823556-50823583, 50823850-50823865, 50823984-50824023, 50826249-50826281, 50826290, 50826304-50826351, 50826372, 50826376, 50826382-50826481, 50826491-50826506, 50826519-50826545, 50826556-50826557, 50826607, 50826614, 50826622-50826623, 50826626-50826628, 50826645, 50826653, 50826657, 50826671-50826693, 50826855-50826860, 50826871-50826876, 50826906-50826918, 50826985, 50826989-50826990, 50827030-50827054, 50827175-50827188, 50827213-50827222, 50831478-50831481, 50831489, 50831514-50831598, 50831621-50831677, 50831681-50831693, 50831712, 50831717-50831752, 50831763-50831765, 50831770-50831774, 50831777-50831780, 50831790-50831861, 50831879-50832025, 50832036-50832054, 50832067-50832339 |
| 423 | ETFB | 19 | 0.9731027857829 | 28 | 1041 | 51857404-51857431 |
| 424 | NLRP12 | 19 | 0.86785938480854 | 421 | 3186 | 54297303-54297328, 54299122-54299126, 54299155-54299167, 54301497-54301510, 54301640-54301641, 54301656-54301658, 54304546-54304582, 54304617-54304651, 54307287-54307291, 54307318-54307339, 54308554-54308557, 54308597-54308599, 54308644, 54308646-54308651, 54310767-54310771, 54310826-54310837, 54310879-54310881, 54312866-54312912, 54312925, 54312938, 54312990-54313000, 54313068-54313086, 54313170-54313193, 54313586, 54313589-54313594, 54313634-54313635, 54313641-54313650, 54313660-54313681, 54313707-54313708, 54313783-54313800, 54313861-54313864, 54313965-54313983, 54314097, 54314105-54314118, 54314123, 54314345-54314351, 54314380-54314392, 54314420-54314421 |
| 425 | PRPF31 | 19 | 0.83133333333333 | 253 | 1500 | 54621828-54621835, 54627942-54627955, 54629941-54629954, 54631495-54631503, 54631514-54631515, 54631538-54631547, 54631569-54631575, 54631690-54631724, 54631745-54631752, 54632432-54632507, 54632532-54632544, 54632647-54632677, 54632704-54632712, 54632730-54632745, 54634837 |
| 426 | TSEN34 | 19 | 0.9903536977492 | 9 | 933 | 54695216, 54695319-54695322, 54695369-54695372 |
| 427 | NLRP7 | 19 | 0.97752087347463 | 70 | 3114 | 55450942-55450948, 55451167-55451216, 55451241-55451252, 55452962 |
| 428 | TNNT1 | 19 | 0.4702154626109 | 418 | 789 | 55644283-55644291, 55644295, 55644300-55644304, 55644311, 55644318, 55644322-55644328, 55645255-55645295, 55645434-55645477, 55645493-55645524, 55648471-55648518, 55649346-55649399, 55649408-55649442, 55652251-55652328, 55652575, 55652580-55652604, 55652611, 55652631-55652637, 55652641, 55653270-55653271, 55658051-55658075 |
| 429 | TNNI3 | 19 | 0.77339901477833 | 138 | 609 | 55663226-55663228, 55665432-55665435, 55665442, 55665487-55665494, 55665509, 55665512, 55665545-55665565, 55666109-55666125, 55666128, 55666145, 55666172, 55666177-55666192, 55667594, 55667598, 55667610-55667611, 55667688, 55667691-55667700, 55668418-55668427, 55668434-55668471 |
| 430 | AURKC | 19 | 0.9989247311828 | 1 | 930 | 57746734 |
| 431 | TPO | 2 | 0.901142041399 | 277 | 2802 | 1426818-1426823, 1481114-1481116, 1497766, 1497776, 1520655-1520754, 1544366-1544495, 1546193-1546209, 1546220-1546222, 1546225, 1546230-1546243, 1546246 |
| 432 | KLF11 | 2 | 0.98570500324886 | 22 | 1539 | 10183844-10183847, 10183868-10183885 |
| 433 | MYCN | 2 | 0.91469534050179 | 119 | 1395 | 16082311-16082342, 16082368-16082392, 16082435-16082447, 16082542-16082546, 16082593-16082606, 16082782, 16082839-16082861, 16082890, 16082893-16082894, 16082905-16082907 |
| 434 | POMC | 2 | 0.99129353233831 | 7 | 804 | 25384419-25384420, 25384425, 25384431-25384434 |
| 435 | HADHA | 2 | 0.99476439790576 | 12 | 2292 | 26414148-26414155, 26415235, 26462009-26462011 |
| 436 | OTOF | 2 | 0.77610944277611 | 1342 | 5994 | 26693504-26693539, 26695410-26695416, 26695479, 26695496, 26695509-26695517, 26696029, 26696056, 26696137-26696147, 26696333-26696351, 26696358, 26696369-26696370, 26696379-26696392, 26696860-26696861, 26696873-26696931, 26696953, 26696957-26696978, 26697381-26697513, 26697533-26697542, 26698270-26698286, 26698328, 26698345, 26698357-26698361, 26698804-26698811, 26698864-26698893, 26698996-26699046, 26699060, 26699065, 26699073-26699076, 26699091-26699185, 26699759-26699911, 26700040-26700156, 26700284-26700306, 26700316-26700328, 26700333-26700374, 26700528-26700529, 26700538, 26700542-26700545, 26700554-26700560, 26700584-26700594, 26700596-26700611, 26702132-26702154, 26702180-26702186, 26702341-26702344, 26702354-26702492, 26703071-26703083, 26703654-26703669, 26703675, 26703679-26703685, 26703753-26703754, 26703761-26703767, 26703770-26703776, 26703781-26703782, 26703794-26703805, 26703847, 26703868, 26705274-26705292, 26705331-26705341, 26705349-26705353, 26705381-26705408, 26705430-26705456, 26706410, 26706421, 26707355-26707370, 26707375, 26707381, 26707416-26707422, 26712079-26712086, 26712148-26712163, 26712596-26712608, 26739374-26739377, 26741887-26741895 |
| 437 | MPV17 | 2 | 0.969868173258 | 16 | 531 | 27535942-27535957 |
| 438 | XDH | 2 | 0.99650174912544 | 14 | 4002 | 31571191-31571204 |
| 439 | SPAST | 2 | 0.9967585089141 | 6 | 1851 | 32289068-32289073 |
| 440 | CYP1B1 | 2 | 0.90134803921569 | 161 | 1632 | 38301552, 38301771, 38301840-38301868, 38301988-38301993, 38302025-38302026, 38302031, 38302038, 38302174-38302180, 38302191-38302231, 38302256-38302296, 38302390, 38302399-38302402, 38302412-38302437 |
| 441 | SOS1 | 2 | 0.99925037481259 | 3 | 4002 | 39222320, 39278298, 39283867 |
| 442 | ABCG5 | 2 | 0.92893660531697 | 139 | 1956 | 44055132-44055178, 44058908-44058911, 44058943-44058950, 44058973-44058994, 44059163-44059209, 44065045-44065050, 44065691-44065695 |
| 443 | ABCG8 | 2 | 0.96290801186944 | 75 | 2022 | 44079996-44079997, 44080000-44080002, 44099189-44099194, 44099364-44099372, 44099379-44099381, 44099385-44099387, 44099433-44099445, 44101118, 44102369-44102370, 44102393-44102421, 44102478-44102481 |
| 444 | LRPPRC | 2 | 0.99952210274791 | 2 | 4185 | 44222947, 44222950 |
| 445 | SIX3 | 2 | 0.996996996997 | 3 | 999 | 45169430-45169432 |
| 446 | EPCAM | 2 | 0.93650793650794 | 60 | 945 | 47596651-47596710 |
| 447 | MSH2 | 2 | 0.98003565062389 | 56 | 2805 | 47630343-47630396, 47630502-47630503 |
| 448 | MSH6 | 2 | 0.96252755326965 | 153 | 4083 | 48010411-48010458, 48010464-48010510, 48010516-48010561, 48010564-48010567, 48010614, 48010620-48010626 |
| 449 | ATP6V1B1 | 2 | 0.97146562905318 | 44 | 1542 | 71163085-71163086, 71163138, 71163172-71163175, 71163185-71163187, 71192133-71192166 |
| 450 | DYSF | 2 | 0.97924528301887 | 132 | 6360 | 71801445-71801447, 71825773-71825814, 71827903-71827918, 71829928, 71838461-71838476, 71838597, 71839810-71839812, 71839834, 71839842, 71839851-71839854, 71840518-71840536, 71847677-71847701 |
| 451 | SPR | 2 | 0.74427480916031 | 201 | 786 | 73114562-73114567, 73114581-73114600, 73114618-73114671, 73114689-73114704, 73114725-73114770, 73114789-73114821, 73114840-73114865 |
| 452 | ALMS1 | 2 | 0.99936020473448 | 8 | 12504 | 73827996-73828002, 73828342 |
| 453 | SLC4A5 | 2 | 0.99970708845929 | 1 | 3414 | 74489314 |
| 454 | MOGS | 2 | 0.99920445505171 | 2 | 2514 | 74692160, 74692360 |
| 455 | GGCX | 2 | 0.9877031181379 | 28 | 2277 | 85785688-85785690, 85785723, 85787984-85787988, 85787992-85788006, 85788018, 85788021, 85788521, 85788534 |
| 456 | REEP1 | 2 | 0.9950495049505 | 3 | 606 | 86564616-86564618 |
| 457 | EIF2AK3 | 2 | 0.99194270367055 | 27 | 3351 | 88926730-88926735, 88926743-88926754, 88926773-88926781 |
| 458 | TMEM127 | 2 | 0.88423988842399 | 83 | 717 | 96919589-96919591, 96930886-96930912, 96930966-96930978, 96931004-96931024, 96931070-96931077, 96931108-96931118 |
| 459 | ZAP70 | 2 | 0.72741935483871 | 507 | 1860 | 98340515-98340557, 98340565, 98340578-98340593, 98340603-98340604, 98340620-98340621, 98340635-98340637, 98340646-98340670, 98340676-98340708, 98340748-98340759, 98340763-98340813, 98340821-98340846, 98340852-98340888, 98341560-98341562, 98341620-98341678, 98341695, 98349346, 98349364-98349365, 98349373, 98349397-98349398, 98349406, 98349454-98349464, 98349469, 98349625-98349649, 98349659-98349670, 98349760-98349779, 98350995-98350999, 98351004-98351007, 98351016, 98351025, 98351056-98351093, 98351151-98351175, 98351741, 98351776-98351800, 98351844-98351860 |
| 460 | RANBP2 | 2 | 0.96795865633075 | 310 | 9675 | 109336063-109336073, 109336093, 109336096, 109336131-109336134, 109347230-109347232, 109347874-109347894, 109347929-109347930, 109352023-109352043, 109352076-109352105, 109352124-109352147, 109352188, 109357109-109357130, 109363167-109363203, 109365376-109365394, 109365423-109365438, 109367720-109367732, 109367868-109367889, 109368104-109368110, 109369454-109369455, 109383672-109383684, 109384628-109384667 |
| 461 | MERTK | 2 | 0.998 | 6 | 3000 | 112656319-112656320, 112656323-112656324, 112656335, 112656344 |
| 462 | PAX8 | 2 | 0.99482631189948 | 7 | 1353 | 113994204-113994210 |
| 463 | GLI2 | 2 | 0.96219281663516 | 180 | 4761 | 121555023-121555026, 121708819-121708820, 121708843-121708846, 121708865-121708914, 121708938-121708944, 121708959-121708961, 121708988-121708992, 121709001-121709006, 121712955-121712957, 121712960, 121712990-121713000, 121728146-121728148, 121728153-121728154, 121746299-121746315, 121746392, 121746516-121746520, 121746612-121746613, 121746657-121746693, 121747014-121747017, 121747165-121747168, 121747335-121747338, 121747350, 121747471-121747474 |
| 464 | BIN1 | 2 | 0.94781144781145 | 93 | 1782 | 127806119-127806122, 127808010-127808013, 127808378-127808382, 127808453, 127808457, 127808742, 127811493, 127811496, 127811574, 127811581-127811588, 127815049-127815066, 127819696, 127827623, 127827626-127827629, 127827662-127827666, 127828383, 127828389-127828391, 127864445-127864456, 127864499-127864519 |
| 465 | PROC | 2 | 0.79437229437229 | 285 | 1386 | 128178859-128178876, 128178903-128178905, 128178964-128178974, 128180610-128180681, 128180693-128180736, 128180872, 128180874-128180881, 128180907-128180941, 128183664-128183680, 128183728-128183766, 128183771, 128184691-128184695, 128184745-128184752, 128186172, 128186182-128186186, 128186281-128186283, 128186309, 128186420-128186423, 128186462-128186470 |
| 466 | CFC1 | 2 | 0.6875 | 210 | 672 | 131279623-131279657, 131279681, 131279688, 131280363-131280407, 131280443-131280477, 131280742-131280746, 131280797-131280846, 131285304, 131285346, 131285372-131285378, 131285381-131285382, 131285385-131285386, 131285403-131285427 |
| 467 | LCT | 2 | 0.99982710926694 | 1 | 5784 | 136558243 |
| 468 | NEB | 2 | 0.99994993491539 | 1 | 19974 | 152402512 |
| 469 | SCN2A | 2 | 0.99983383183782 | 1 | 6018 | 166245230 |
| 470 | GALNT3 | 2 | 0.99631966351209 | 7 | 1902 | 166626899-166626905 |
| 471 | SCN9A | 2 | 0.9994944388271 | 3 | 5934 | 167099026-167099028 |
| 472 | HOXD13 | 2 | 0.99127906976744 | 9 | 1032 | 176957683-176957690, 176957695 |
| 473 | DFNB59 | 2 | 0.99905571293673 | 1 | 1059 | 179319067 |
| 474 | TTN | 2 | 0.99988029686378 | 12 | 100248 | 179392351, 179392355-179392356, 179392359, 179580238-179580240, 179587819-179587823 |
| 475 | COL3A1 | 2 | 0.9945466939332 | 24 | 4401 | 189871663-189871686 |
| 476 | COL5A2 | 2 | 0.99977777777778 | 1 | 4500 | 189975086 |
| 477 | HSPD1 | 2 | 0.97212543554007 | 48 | 1722 | 198351835-198351882 |
| 478 | CASP8 | 2 | 0.99938157081014 | 1 | 1617 | 202149613 |
| 479 | BMPR2 | 2 | 0.99935835739493 | 2 | 3117 | 203242243, 203242262 |
| 480 | NDUFS1 | 2 | 0.99862637362637 | 3 | 2184 | 207018400-207018402 |
| 481 | BCS1L | 2 | 0.9952380952381 | 6 | 1260 | 219526537, 219526543-219526547 |
| 482 | CYP27A1 | 2 | 0.99436090225564 | 9 | 1596 | 219646920, 219646924, 219646933, 219646948, 219646956-219646960 |
| 483 | WNT10A | 2 | 0.97368421052632 | 33 | 1254 | 219745718-219745719, 219745746, 219745757-219745760, 219757547-219757550, 219757602, 219757607-219757611, 219757867, 219757879-219757882, 219757896-219757901, 219757904, 219757908-219757911 |
| 484 | DES | 2 | 0.99433828733192 | 8 | 1413 | 220283199, 220283208, 220283223, 220283570, 220283591, 220283660, 220283709-220283710 |
| 485 | OBSL1 | 2 | 0.88701458443156 | 643 | 5691 | 220416294-220416298, 220416343-220416382, 220416404-220416457, 220416484-220416499, 220416834-220416853, 220416869-220416931, 220417258-220417272, 220417298-220417304, 220417339, 220417342-220417349, 220417363, 220417376, 220417379, 220417389-220417418, 220417604, 220417607, 220417613-220417645, 220417659-220417672, 220417746, 220419438-220419444, 220420818, 220422946-220422951, 220424027-220424029, 220427202-220427203, 220427391, 220432534, 220435244-220435249, 220435346-220435347, 220435351, 220435360-220435382, 220435401-220435405, 220435500-220435527, 220435606, 220435610-220435622, 220435627, 220435638, 220435641-220435673, 220435693-220435714, 220435734-220435812, 220435826-220435845, 220435851-220435880, 220435890-220435933, 220435954 |
| 486 | PAX3 | 2 | 0.97562582345191 | 37 | 1518 | 223161704-223161738, 223163294-223163295 |
| 487 | COL4A3 | 2 | 0.99960103730301 | 2 | 5013 | 228163477, 228176575 |
| 488 | SLC19A3 | 2 | 0.98859825620389 | 17 | 1491 | 228563529-228563530, 228563974-228563988 |
| 489 | CHRND | 2 | 0.88416988416988 | 180 | 1554 | 233390926-233390966, 233391243, 233391355, 233391367, 233393273, 233393591, 233394681, 233394686, 233394697-233394703, 233394728-233394735, 233394774, 233396070, 233396090-233396105, 233396158, 233396164-233396168, 233396265-233396284, 233396308, 233396354, 233398671-233398717, 233398749-233398754, 233398757-233398758, 233398786, 233398975-233398979, 233399886-233399895 |
| 490 | CHRNG | 2 | 0.99356499356499 | 10 | 1554 | 233404478, 233405412, 233409128, 233409230, 233409244-233409249 |
| 491 | COL6A3 | 2 | 0.99947556114957 | 5 | 9534 | 238249097-238249100, 238249554 |
| 492 | AGXT | 2 | 0.64715860899067 | 416 | 1179 | 241808283-241808329, 241808342-241808357, 241808408-241808447, 241808587-241808600, 241808619-241808642, 241808673-241808679, 241808687-241808712, 241808715-241808720, 241808742-241808756, 241808772-241808779, 241810061-241810080, 241810101-241810125, 241810766-241810773, 241810776, 241810782-241810843, 241812410-241812412, 241813396-241813433, 241813478-241813479, 241814545-241814548, 241814601, 241816973-241817000, 241817011-241817024, 241817030-241817035, 241818171 |
| 493 | D2HGDH | 2 | 0.65836526181354 | 535 | 1566 | 242674646, 242674659, 242674678, 242674681, 242674691, 242674696, 242674705-242674716, 242674743-242674745, 242674786-242674789, 242674834, 242674843-242674859, 242680467, 242680482, 242683177-242683193, 242689573-242689621, 242689634-242689653, 242689672-242689709, 242690675, 242690730, 242690739, 242690749-242690795, 242695307-242695310, 242695316-242695329, 242695335-242695337, 242695349-242695350, 242695355-242695376, 242695385-242695429, 242707125, 242707146-242707186, 242707201-242707384 |
| 494 | C20orf54 | 20 | 0.99078014184397 | 13 | 1410 | 741784-741790, 744333, 744535-744539 |
| 495 | AVP | 20 | 0.76161616161616 | 118 | 495 | 3063344-3063365, 3063399, 3063404-3063428, 3063433, 3063441-3063448, 3063623-3063656, 3063666-3063683, 3063688, 3063771-3063775, 3063778-3063780 |
| 496 | PANK2 | 20 | 0.99007589025102 | 17 | 1713 | 3869787, 3870045-3870050, 3870055, 3870148-3870153, 3870214-3870216 |
| 497 | SNTA1 | 20 | 0.87615283267457 | 188 | 1518 | 32000193, 32000214-32000232, 32000381-32000391, 32000406-32000426, 32000456-32000457, 32000469-32000484, 32031177-32031183, 32031218-32031259, 32031323-32031336, 32031342, 32031363-32031403, 32031414-32031426 |
| 498 | SAMHD1 | 20 | 0.98245614035088 | 33 | 1881 | 35526230, 35526241-35526243, 35526275, 35526303, 35526311, 35526361-35526362, 35526843-35526862, 35540872, 35547828-35547830 |
| 499 | HNF4A | 20 | 0.98245614035088 | 25 | 1425 | 43052758-43052774, 43052815-43052822 |
| 500 | ADA | 20 | 0.90750915750916 | 101 | 1092 | 43252926-43252936, 43254217, 43255133-43255160, 43255224-43255225, 43257757-43257790, 43280216-43280240 |
| 501 | CTSA | 20 | 0.91516366065464 | 127 | 1497 | 44520213-44520267, 44520342-44520347, 44520559-44520579, 44523633-44523638, 44523680-44523684, 44523750-44523772, 44526356-44526359, 44526679-44526681, 44526734-44526737 |
| 502 | DPM1 | 20 | 0.98978288633461 | 8 | 783 | 49562399-49562406 |
| 503 | SALL4 | 20 | 0.98039215686275 | 62 | 3162 | 50400994-50400995, 50405475, 50406585-50406587, 50406833-50406836, 50407112-50407116, 50407204-50407212, 50407247-50407248, 50407288-50407290, 50407385-50407390, 50407777-50407782, 50408336-50408346, 50418818-50418827 |
| 504 | PCK1 | 20 | 0.99090422685928 | 17 | 1869 | 56136613-56136617, 56137804-56137807, 56138129, 56138150-56138156 |
| 505 | GNAS | 20 | 0.15040650406504 | 627 | 738 | 57415162-57415345, 57415354-57415358, 57415368-57415374, 57415387-57415389, 57415398-57415628, 57415639, 57415651-57415661, 57415667-57415669, 57415672-57415675, 57415686-57415693, 57415700-57415753, 57415775-57415862, 57415872-57415899 |
| 506 | GNAS | 20 | 0.65510597302505 | 1074 | 3114 | 57428360-57428363, 57428393-57428398, 57428438-57428446, 57428454, 57428501-57428541, 57428612-57428621, 57428626, 57428629-57428637, 57428720, 57428739, 57428794-57428815, 57428837-57428877, 57428910-57428957, 57429045-57429048, 57429065-57429132, 57429139, 57429158, 57429196-57429223, 57429231-57429234, 57429259-57429288, 57429311-57429342, 57429350-57429372, 57429379-57429443, 57429455-57429666, 57429680-57429733, 57429737-57429744, 57429751, 57429760-57429765, 57429794-57429802, 57429809-57429835, 57429838-57429839, 57429843-57429909, 57429916-57429942, 57429961-57429996, 57430038-57430070, 57430077-57430085, 57430092-57430108, 57430129-57430160, 57430253, 57430258-57430262, 57430271-57430279, 57430297-57430348, 57430372-57430388 |
| 507 | COL9A3 | 20 | 0.57810218978102 | 867 | 2055 | 61448417-61448494, 61448919-61448987, 61449870-61449899, 61450574-61450598, 61450606-61450633, 61451281-61451298, 61452533-61452568, 61453109-61453162, 61453468-61453516, 61453943-61453984, 61455825-61455843, 61456320-61456325, 61456341-61456373, 61457169-61457189, 61457556-61457609, 61458119-61458125, 61458147-61458172, 61458605-61458646, 61459275-61459276, 61460275-61460293, 61460831-61460834, 61460980-61461003, 61461139-61461170, 61461712-61461727, 61461869-61461915, 61461922-61461940, 61463522, 61463526-61463528, 61463534-61463541, 61467584-61467598, 61467630-61467646, 61468526-61468541, 61468584-61468590 |
| 508 | CHRNA4 | 20 | 0.014861995753715 | 1856 | 1884 | 61978090-61978215, 61981005-61981482, 61981495-61982330, 61982347-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517 |
| 509 | KCNQ2 | 20 | 0.200840015273 | 2093 | 2619 | 62037997-62038167, 62038189-62038534, 62038547, 62038551-62038554, 62038558-62038661, 62038676-62038728, 62039766-62039814, 62039819-62039821, 62039872-62039889, 62044803-62044805, 62044828-62044926, 62045446-62045481, 62045538, 62045545-62045546, 62046256-62046347, 62050972-62050976, 62059720-62059731, 62059749-62059786, 62062715-62062722, 62065163, 62065179-62065217, 62065224-62065256, 62069978-62070043, 62070951-62070972, 62070986-62071061, 62073759-62073832, 62073838-62073884, 62076012-62076187, 62076591-62076717, 62078100-62078190, 62103521-62103816 |
| 510 | SOX18 | 20 | 0.17835497835498 | 949 | 1155 | 62679519-62679607, 62679634, 62679638-62679645, 62679655-62679682, 62679687, 62679723-62679724, 62679730, 62679735-62679755, 62679786, 62679796, 62679836-62679874, 62679900-62679951, 62679957-62680066, 62680079-62680315, 62680512-62680869 |
| 511 | APP | 21 | 0.99870298313878 | 3 | 2313 | 27542909-27542911 |
| 512 | IFNGR2 | 21 | 0.89546351084813 | 106 | 1014 | 34775850-34775922, 34793823, 34793828, 34793833-34793839, 34793850, 34793888-34793903, 34793935-34793936, 34799309-34799313 |
| 513 | RCAN1 | 21 | 0.83662714097497 | 124 | 759 | 35987069-35987087, 35987144, 35987163-35987171, 35987199-35987279, 35987294-35987307 |
| 514 | RUNX1 | 21 | 0.95841995841996 | 60 | 1443 | 36259180, 36259202-36259244, 36259262, 36259284-36259288, 36259327-36259336 |
| 515 | CLDN14 | 21 | 0.97777777777778 | 16 | 720 | 37833536-37833542, 37833580-37833588 |
| 516 | CBS | 21 | 0.89855072463768 | 168 | 1656 | 44473993-44473997, 44474054-44474060, 44474071, 44476935-44476956, 44478309-44478313, 44478950, 44478966-44478971, 44478985-44478986, 44479042-44479073, 44479401-44479406, 44480626-44480649, 44483089, 44485317-44485323, 44485801-44485803, 44488641, 44488644-44488647, 44488713-44488717, 44492110-44492117, 44492120-44492134, 44492140, 44492149, 44492252-44492262 |
| 517 | CSTB | 21 | 0.97306397306397 | 8 | 297 | 45196105, 45196144-45196150 |
| 518 | AIRE | 21 | 0.054334554334554 | 1549 | 1638 | 45705890-45706021, 45706440-45706523, 45706540, 45706545, 45706549-45706607, 45706861-45706883, 45706889-45707016, 45707400-45707474, 45708228-45708238, 45708255, 45708266-45708341, 45709540-45709685, 45709871-45709951, 45710978-45711093, 45712185-45712223, 45712241-45712284, 45712876-45712933, 45712945-45713058, 45713672-45713793, 45714284-45714386, 45716266-45716328, 45717539-45717610 |
| 519 | ITGB2 | 21 | 0.75844155844156 | 558 | 2310 | 46306757, 46306760, 46306783-46306817, 46308608-46308722, 46308745-46308773, 46308794-46308810, 46309241-46309259, 46309267-46309272, 46309306-46309355, 46309893-46309943, 46309961-46309962, 46310016-46310056, 46310079-46310096, 46310123, 46311745-46311748, 46311757-46311807, 46311811-46311823, 46311839, 46311862-46311863, 46311884-46311886, 46311892-46311903, 46313365-46313395, 46313402-46313421, 46313438, 46313441, 46313447, 46314907, 46320357, 46320363-46320370, 46320373-46320374, 46320378, 46320390, 46321415, 46326846, 46326941-46326942, 46330249-46330262 |
| 520 | COL18A1 | 21 | 0.4045584045584 | 3135 | 5265 | 46875445-46875458, 46875651-46875685, 46875734-46875743, 46875747-46875756, 46875759-46875761, 46875777-46875779, 46875795-46875800, 46875854-46875857, 46875875-46875898, 46875929-46875934, 46875969-46875982, 46875986, 46876023, 46876049-46876051, 46876077-46876083, 46876133-46876136, 46876173, 46876177-46876191, 46876199-46876203, 46876214, 46876218-46876219, 46876228-46876235, 46876288-46876297, 46876305-46876312, 46876315-46876333, 46876346-46876349, 46876360, 46876364-46876365, 46876406-46876449, 46876459-46876462, 46876494, 46876500, 46876508-46876611, 46876631-46876678, 46876703-46876719, 46876746-46876795, 46888156-46888171, 46888214-46888241, 46888244-46888250, 46888257-46888265, 46888272-46888277, 46888319-46888322, 46888366-46888422, 46888506-46888526, 46888532-46888534, 46888553, 46888570, 46888606, 46888622-46888660, 46893831, 46893854-46893890, 46896310-46896368, 46896394, 46897699, 46897789, 46897792, 46897839-46897864, 46899842, 46899846-46899858, 46899861, 46899984, 46900035-46900054, 46900063-46900070, 46900404-46900434, 46900632, 46900661-46900663, 46900694-46900713, 46900732-46900751, 46900765-46900772, 46901877-46901893, 46906775-46906816, 46906829-46906855, 46906867, 46906883-46906887, 46907405-46907416, 46907420, 46908332-46908358, 46909400-46909426, 46909432-46909433, 46910189-46910260, 46910750-46910785, 46911139-46911228, 46912449-46912478, 46912601-46912627, 46913077-46913087, 46913106-46913139, 46913415-46913489, 46914459-46914485, 46914776-46914829, 46915272-46915346, 46916414-46916482, 46916964-46917006, 46917513-46917575, 46923925-46923968, 46924330-46924470, 46925048-46925192, 46925272-46925345, 46925752-46925880, 46927475-46927507, 46929270-46929515, 46929978-46930175, 46931025-46931140, 46932102-46932241, 46932248-46932312 |
| 521 | COL6A1 | 21 | 0.6268221574344 | 1152 | 3087 | 47401765-47401861, 47402548-47402677, 47404183-47404383, 47406440-47406599, 47406858-47406895, 47406905-47406986, 47407069-47407089, 47407413-47407433, 47407524-47407568, 47408998-47409051, 47409531-47409540, 47409559-47409566, 47409669-47409692, 47410172-47410198, 47410292-47410335, 47410707-47410712, 47410728-47410740, 47410935-47410955, 47412107-47412109, 47414129-47414143, 47417354-47417390, 47417640-47417665, 47418062, 47418815, 47418843, 47418849-47418856, 47419072, 47419076, 47419123, 47419588-47419603, 47422204-47422206, 47423455-47423457, 47423500-47423525, 47423824-47423830 |
| 522 | COL6A2 | 21 | 0.10849673202614 | 2728 | 3060 | 47531391-47531505, 47531893-47531899, 47531911-47532136, 47532159-47532204, 47532213-47532261, 47532271, 47532279, 47532283, 47532287-47532294, 47532300-47532349, 47532366-47532426, 47532436, 47532449-47532491, 47533972, 47533980-47533987, 47535815-47535820, 47535837-47535839, 47535923-47535967, 47536291-47536317, 47536565, 47536573-47536591, 47536684-47536728, 47537314-47537367, 47537788-47537828, 47537838-47537850, 47538528-47538590, 47538944-47539033, 47539702-47539764, 47540429-47540491, 47540975-47541037, 47541470-47541532, 47542022-47542072, 47542410-47542445, 47542789-47542851, 47544576-47544582, 47544597-47544627, 47544799-47544834, 47545180-47545225, 47545383-47545408, 47545435-47545436, 47545440-47545447, 47545469-47545531, 47545699-47545886, 47545896-47546151, 47546417-47546455, 47551868-47552466 |
| 523 | COL6A2 | 21 | 0 | 342 | 342 | 47552183-47552524 |
| 524 | FTCD | 21 | 0.04920049200492 | 1546 | 1626 | 47556901-47556987, 47557153-47557248, 47558422-47558560, 47558794-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570099, 47570115-47570164, 47570302-47570439, 47571472-47571518, 47571531-47571651, 47571806-47571894, 47572821-47572841, 47572844, 47572858-47572890, 47572897-47572901, 47572912-47572949, 47574063-47574246, 47575400-47575402, 47575409-47575437 |
| 525 | PCNT | 21 | 0.94885625811607 | 512 | 10011 | 47744143-47744144, 47744191-47744196, 47766800, 47775431-47775432, 47775435, 47786643, 47786657, 47786668, 47786670-47786679, 47786740, 47786755-47786756, 47787035, 47805898, 47808780, 47809125-47809127, 47810676-47810677, 47817201-47817245, 47817335-47817359, 47817928-47817937, 47819561-47819562, 47819688-47819699, 47822376-47822378, 47831235-47831241, 47831299-47831317, 47831447-47831453, 47831716-47831722, 47832831-47832852, 47836136, 47836451-47836452, 47836547, 47836550, 47836604-47836621, 47836668, 47836691, 47836723-47836725, 47836734-47836736, 47841918-47841932, 47841941, 47841945-47841946, 47841963-47841973, 47841984, 47842007-47842035, 47845822, 47845836-47845853, 47847592-47847604, 47847694, 47848316-47848319, 47848368-47848370, 47848373, 47848394-47848426, 47848429, 47848450-47848467, 47848479-47848504, 47850058-47850093, 47850122-47850125, 47850130-47850141, 47850421-47850422, 47850467-47850485, 47850514-47850519, 47850523-47850524, 47850553-47850556, 47851476, 47851758-47851759, 47851840-47851849, 47856053, 47860969, 47863749-47863755, 47863757 |
| 526 | PRODH | 22 | 0.57848031059346 | 760 | 1803 | 18900736-18900750, 18900776-18900785, 18900791-18900794, 18900806-18900839, 18900855-18900875, 18900981-18900987, 18901010-18901039, 18904403-18904436, 18904482-18904496, 18905889, 18905913-18905937, 18905961-18905989, 18907009-18907045, 18907224, 18907260-18907279, 18908875, 18908886, 18908891-18908898, 18908910-18908936, 18910339-18910340, 18910347, 18910418-18910419, 18910433, 18910441-18910444, 18910628-18910655, 18912564-18912565, 18912589, 18912605, 18912638-18912656, 18912678, 18912709, 18913203-18913204, 18918503-18918527, 18918535-18918578, 18918599-18918617, 18918641-18918660, 18918688-18918711, 18923528-18923611, 18923642-18923800 |
| 527 | GP1BB | 22 | 0 | 621 | 621 | 19711093-19711102, 19711377-19711987 |
| 528 | TBX1 | 22 | 0.41733870967742 | 867 | 1488 | 19747167-19747200, 19748428-19748748, 19748788, 19748802-19748803, 19753302-19753316, 19753330, 19753342-19753347, 19753425-19753473, 19753494-19753525, 19753912-19754004, 19754010-19754049, 19754057-19754172, 19754179-19754226, 19754255-19754330, 19754337-19754358, 19754361, 19754367, 19754370-19754374, 19754382-19754385 |
| 529 | SMARCB1 | 22 | 0.95423143350604 | 53 | 1158 | 24129435, 24145556-24145557, 24175796-24175802, 24175825-24175826, 24175848-24175888 |
| 530 | CHEK2 | 22 | 0.9091425326519 | 160 | 1761 | 29083889-29083917, 29083948-29083965, 29085165-29085171, 29090020-29090021, 29091837-29091844, 29115405-29115412, 29115445-29115451, 29120985, 29120992-29120993, 29121266-29121302, 29126408-29126417, 29126441-29126469, 29126473, 29126480 |
| 531 | NF2 | 22 | 0.99832214765101 | 3 | 1788 | 29999988-29999990 |
| 532 | TCN2 | 22 | 0.98364485981308 | 21 | 1284 | 31011610, 31022447-31022462, 31022485-31022488 |
| 533 | DRG1 | 22 | 0.98822463768116 | 13 | 1104 | 31796681-31796693 |
| 534 | TIMP3 | 22 | 0.87264150943396 | 81 | 636 | 33197988-33198068 |
| 535 | LARGE | 22 | 0.99779832672831 | 5 | 2271 | 33670423-33670426, 33670432 |
| 536 | MYH9 | 22 | 0.93098759136495 | 406 | 5883 | 36685178, 36685267, 36688064-36688125, 36688225-36688230, 36689375-36689379, 36689391, 36689413-36689434, 36690226, 36690994, 36691003, 36691006, 36691554, 36691572-36691576, 36691664-36691666, 36691681-36691689, 36692889-36692895, 36692903-36692905, 36692912-36692971, 36692987, 36696173-36696195, 36696210, 36696228, 36696231, 36696288, 36696899-36696918, 36696934, 36696955, 36696961, 36696981, 36696992-36696993, 36697047, 36697051, 36697054-36697083, 36697580-36697601, 36697653, 36697680, 36697696-36697701, 36697707, 36698636, 36698663, 36698674-36698695, 36698710, 36700050, 36700083, 36700094-36700102, 36701145, 36702049-36702094, 36702577, 36710213, 36712686-36712697, 36716357, 36718479 |
| 537 | TRIOBP | 22 | 0.90349394195548 | 685 | 7098 | 38109309-38109315, 38119856-38119862, 38119894, 38120150-38120156, 38120320-38120362, 38120429, 38120560-38120566, 38120737-38120743, 38121249, 38121414, 38121507, 38121723, 38121726-38121727, 38121737-38121738, 38121767-38121799, 38121855, 38121870-38121871, 38121920, 38122036-38122045, 38122126-38122128, 38122242, 38122315, 38122318-38122321, 38122426, 38122446-38122491, 38122501-38122507, 38129332-38129354, 38129370, 38129382, 38129395-38129419, 38130413-38130438, 38130472, 38130494-38130497, 38130515-38130516, 38130521, 38130545-38130553, 38130556, 38130655-38130665, 38130693, 38130704, 38130729, 38130745, 38130756-38130757, 38130781-38130789, 38130863-38130894, 38130909-38130948, 38130969, 38130988-38130992, 38131010-38131040, 38131053, 38131114-38131159, 38131220-38131262, 38131272-38131287, 38131347, 38131390-38131421, 38131433-38131445, 38136935-38136936, 38136947, 38136952-38136953, 38147829, 38151570, 38151646-38151653, 38153916-38153944, 38161723-38161728, 38161731, 38161763, 38161767-38161773, 38161780, 38161799-38161815, 38165145, 38165156, 38165160-38165181, 38167728-38167730, 38167734, 38167741 |
| 538 | SOX10 | 22 | 0.98001427551749 | 28 | 1401 | 38379544, 38379559-38379584, 38379739 |
| 539 | PLA2G6 | 22 | 0 | 489 | 489 | 38508274-38508312, 38508511-38508584, 38509494-38509869 |
| 540 | PLA2G6 | 22 | 0.48038000826105 | 1258 | 2421 | 38508168-38508312, 38508511-38508584, 38509494-38509661, 38511534-38511688, 38512082-38512218, 38516766-38516916, 38519102-38519265, 38522378-38522387, 38522393-38522440, 38522453-38522456, 38524298, 38524319-38524417, 38525461-38525477, 38525532-38525541, 38525567-38525569, 38528838-38528871, 38528885-38528888, 38528920-38528926, 38528941, 38528953, 38528987-38528989, 38528995-38529009, 38529014-38529020 |
| 541 | EP300 | 22 | 0.99227053140097 | 56 | 7245 | 41489041-41489047, 41489089, 41523720, 41537142-41537156, 41566562-41566565, 41573195-41573202, 41573412-41573413, 41573722-41573727, 41574075, 41574207-41574213, 41574306-41574307, 41574907-41574908 |
| 542 | TNFRSF13C | 22 | 0.11531531531532 | 491 | 555 | 42321371-42321388, 42321391-42321398, 42321404, 42321409-42321446, 42321468-42321503, 42321514-42321536, 42322105-42322335, 42322642-42322777 |
| 543 | CYB5R3 | 22 | 0.93487858719647 | 59 | 906 | 43026910-43026913, 43026916-43026920, 43027412, 43027419-43027446, 43045301-43045321 |
| 544 | TRMU | 22 | 0.87756714060032 | 155 | 1266 | 46731662-46731681, 46731693-46731732, 46746254, 46748055, 46749716-46749734, 46751385, 46751404, 46751424, 46751887-46751912, 46752750-46752755, 46752761, 46752853, 46752867-46752903 |
| 545 | ALG12 | 22 | 0.88411724608044 | 170 | 1467 | 50297999, 50298007-50298008, 50301457, 50301557, 50301575-50301583, 50303617-50303626, 50303633-50303642, 50303652-50303656, 50303668, 50303701-50303736, 50304145, 50304150, 50304154-50304169, 50304174, 50304178, 50304181, 50307124, 50307130-50307133, 50307139-50307145, 50307158-50307165, 50307268-50307281, 50307286-50307287, 50307354-50307366, 50307375-50307398 |
| 546 | MLC1 | 22 | 0.96913580246914 | 35 | 1134 | 50502477, 50502567, 50502588-50502618, 50512748-50512749 |
| 547 | SCO2 | 22 | 0.65043695380774 | 280 | 801 | 50962040-50962055, 50962083-50962111, 50962176-50962179, 50962253-50962266, 50962299, 50962341-50962352, 50962485, 50962523-50962549, 50962555-50962556, 50962574-50962609, 50962634-50962644, 50962647, 50962651, 50962654-50962660, 50962665, 50962691-50962721, 50962743, 50962756-50962840 |
| 548 | TYMP | 22 | 0.1808143547274 | 1187 | 1449 | 50964199-50964347, 50964430-50964570, 50964675-50964905, 50965005-50965103, 50965123, 50965126-50965167, 50965594-50965674, 50966052, 50966093-50966143, 50966968-50966980, 50967016-50967039, 50967565-50967578, 50967593-50967623, 50967634-50967674, 50967686-50967711, 50967722-50967767, 50967925-50968064, 50968083-50968138 |
| 549 | ARSA | 22 | 0.87335958005249 | 193 | 1524 | 51063573-51063575, 51063667, 51063673-51063681, 51063714-51063719, 51063757-51063766, 51063808-51063835, 51063869-51063876, 51064026-51064029, 51064039, 51064081, 51064085-51064090, 51064101-51064106, 51064372-51064398, 51064466, 51064469-51064472, 51064583, 51064652-51064671, 51065162, 51065315-51065327, 51065355-51065357, 51065365, 51065370-51065382, 51065477-51065480, 51065742, 51066122-51066128, 51066146, 51066179, 51066190-51066201 |
| 550 | SHANK3 | 22 | 0.51830663615561 | 2526 | 5244 | 51113070-51113132, 51113476-51113536, 51113555-51113642, 51113658-51113659, 51113662-51113679, 51115102-51115121, 51117014-51117058, 51117085-51117121, 51117203, 51117208, 51117227, 51117250-51117348, 51117461, 51117464-51117472, 51117484-51117522, 51117539-51117552, 51117569-51117614, 51117740-51117856, 51121768-51121845, 51123013-51123079, 51133207-51133264, 51133267, 51133286-51133322, 51133331-51133349, 51133359-51133382, 51133418-51133427, 51133438, 51133451, 51133455-51133466, 51135671-51135719, 51135951-51136143, 51137118-51137126, 51137179-51137203, 51137214, 51137219-51137225, 51142313-51142318, 51142327, 51142343-51142345, 51143183-51143267, 51143275-51143281, 51143290, 51143520-51143524, 51144528-51144556, 51144566, 51144569, 51144574, 51158612-51158618, 51158700, 51158714, 51158719, 51158724-51158750, 51158759-51158829, 51158846-51158902, 51158910-51158925, 51158928-51158943, 51158947, 51158951-51158968, 51158982, 51158994-51159078, 51159085-51159091, 51159143, 51159146, 51159155, 51159199-51159226, 51159241-51159331, 51159337-51159343, 51159354-51159390, 51159414-51159422, 51159436-51159462, 51159483-51159516, 51159558-51159564, 51159594-51159620, 51159933, 51159961, 51159968, 51159971, 51159997-51160016, 51160025-51160029, 51160083-51160087, 51160195-51160214, 51160319-51160346, 51160433-51160435, 51160520, 51160543-51160569, 51160817-51160820, 51169149-51169157, 51169180-51169244, 51169263-51169297, 51169312-51169328, 51169346-51169372, 51169391-51169392, 51169415-51169459, 51169470-51169511, 51169518-51169613, 51169621-51169660, 51169673-51169727, 51169738-51169740 |
| 551 | VHL | 3 | 0.78193146417445 | 140 | 642 | 10183535, 10183585-10183619, 10183647-10183737, 10188266-10188267, 10191636, 10191640-10191649 |
| 552 | WNT7A | 3 | 0.98666666666667 | 14 | 1050 | 13860462, 13896127, 13921265-13921276 |
| 553 | TMEM43 | 3 | 0.98420615128845 | 19 | 1203 | 14172330-14172348 |
| 554 | COLQ | 3 | 0.99488304093567 | 7 | 1368 | 15497490, 15498011-15498016 |
| 555 | SCN5A | 3 | 0.99609441331296 | 23 | 5889 | 38616797-38616799, 38616810-38616811, 38616877-38616883, 38645400, 38645405-38645406, 38645453-38645455, 38645532, 38646232, 38647609, 38647612-38647613 |
| 556 | TMIE | 3 | 0.50544662309368 | 227 | 459 | 46742860-46742867, 46742896-46742927, 46742939, 46742949-46743070, 46747280-46747291, 46747314-46747352, 46750710-46750722 |
| 557 | TMIE | 3 | 0.64755838641189 | 166 | 471 | 46742978-46743070, 46747280-46747291, 46747314-46747352, 46750710-46750722, 46751074-46751082 |
| 558 | TREX1 | 3 | 0.85945945945946 | 156 | 1110 | 48507913-48507925, 48507961, 48507984, 48508027-48508064, 48508067, 48508073-48508078, 48508082-48508109, 48508165, 48508194, 48508304, 48508308-48508320, 48508324-48508326, 48508346-48508353, 48508423, 48508680, 48508704, 48508873-48508909, 48508931 |
| 559 | COL7A1 | 3 | 0.91295981890209 | 769 | 8835 | 48607753-48607756, 48607759, 48607766-48607767, 48609458, 48610331, 48611321-48611323, 48612893, 48612907, 48612913, 48612919-48612920, 48613116, 48613144, 48613157, 48613162-48613163, 48613699-48613703, 48615760-48615785, 48616642-48616644, 48616657, 48616700-48616701, 48616808-48616810, 48616917-48616945, 48617023, 48617466-48617490, 48618072, 48618577-48618580, 48618585-48618590, 48619037, 48619173-48619176, 48619351-48619362, 48619365-48619376, 48619788, 48620047, 48620057-48620063, 48620072, 48620079-48620086, 48621041, 48621779-48621787, 48622188, 48622518, 48622547-48622549, 48623541-48623545, 48623555-48623557, 48623562, 48623570, 48623608-48623623, 48623629, 48623647-48623654, 48623661-48623662, 48623813, 48623821-48623824, 48623857, 48624009-48624011, 48624047, 48624104-48624122, 48624501, 48624689-48624714, 48624869, 48624913-48624949, 48624963, 48624966, 48625226-48625247, 48625256-48625310, 48625715-48625757, 48625773-48625825, 48625828-48625830, 48626075-48626089, 48626120-48626166, 48626172-48626217, 48626351, 48626399-48626414, 48626793-48626799, 48626827-48626845, 48626864-48626865, 48626872, 48627032-48627073, 48627095-48627142, 48627149-48627151, 48627721-48627722, 48628137-48628151, 48629137-48629138, 48629332-48629334, 48629671 |
| 560 | SLC25A20 | 3 | 0.91942604856512 | 73 | 906 | 48936132-48936202, 48936226-48936227 |
| 561 | LAMB2 | 3 | 0.93496386881601 | 351 | 5397 | 49158997, 49159127, 49159619-49159621, 49159664, 49159695-49159728, 49160211-49160238, 49160252-49160286, 49160322-49160323, 49160478-49160482, 49160572-49160578, 49160750-49160751, 49160757-49160762, 49161009-49161014, 49161232, 49161460-49161464, 49161841-49161847, 49161854, 49161870, 49161912, 49161998-49162003, 49162006-49162007, 49162012, 49162019, 49162211-49162213, 49162327, 49162527-49162558, 49162686-49162687, 49162720-49162743, 49162821-49162825, 49162828, 49162869-49162898, 49163203-49163239, 49166693-49166704, 49167065-49167070, 49167074-49167075, 49167417, 49167744-49167769, 49167803, 49167813-49167814, 49168239, 49169718-49169724, 49170252 |
| 562 | AMT | 3 | 0.95957095709571 | 49 | 1212 | 49459557-49459580, 49459590-49459613, 49459849 |
| 563 | GNAT1 | 3 | 0.75783475783476 | 255 | 1053 | 50229212-50229250, 50230790, 50230826-50230828, 50230834-50230839, 50230939-50230956, 50230986, 50230993-50230996, 50231008, 50231085-50231096, 50231188-50231230, 50231260-50231261, 50231264, 50231525-50231569, 50231577-50231609, 50231615-50231627, 50231633-50231638, 50231650, 50231653-50231654, 50232219, 50232224, 50232228-50232247, 50232252, 50232351 |
| 564 | HYAL1 | 3 | 0.82951070336391 | 223 | 1308 | 50337940, 50338005, 50338013-50338014, 50338061, 50338083, 50338101, 50338108-50338141, 50338438-50338482, 50339522, 50339558-50339636, 50339675-50339678, 50339683, 50339803, 50339808-50339809, 50339822, 50339827, 50339831-50339833, 50339863-50339871, 50339878-50339879, 50339888, 50339933, 50340034, 50340091, 50340122-50340139, 50340142-50340150, 50340227, 50340355 |
| 565 | TNNC1 | 3 | 0.94238683127572 | 28 | 486 | 52485293, 52485510-52485525, 52485770, 52486220-52486222, 52486232-52486237, 52488021 |
| 566 | RFT1 | 3 | 0.98462484624846 | 25 | 1626 | 53156404-53156416, 53156441-53156452 |
| 567 | TKT | 3 | 0.93536324786325 | 121 | 1872 | 53262082-53262088, 53263401, 53265424-53265427, 53269046, 53269076-53269079, 53275164-53275207, 53289852-53289897, 53289918-53289929, 53289933, 53289949 |
| 568 | FLNB | 3 | 0.99526187732104 | 37 | 7809 | 58133987, 58133997-58133999, 58134002-58134015, 58139117-58139119, 58139129, 58139328, 58139331-58139333, 58140518-58140519, 58141758-58141761, 58141783-58141785, 58141801-58141802 |
| 569 | ATXN7 | 3 | 0.91613812544045 | 238 | 2838 | 63898306-63898543 |
| 570 | ARL13B | 3 | 0.91297591297591 | 112 | 1287 | 93761865-93761918, 93761971-93761979, 93762022, 93762027-93762040, 93762078-93762084, 93768305-93768328, 93768366, 93769735-93769736 |
| 571 | CPOX | 3 | 0.91868131868132 | 111 | 1365 | 98311912-98311955, 98312133-98312182, 98312272, 98312282-98312296, 98312306 |
| 572 | UMPS | 3 | 0.999306999307 | 1 | 1443 | 124456663 |
| 573 | ACAD9 | 3 | 0.98070739549839 | 36 | 1866 | 128621428, 128622913-128622924, 128623264, 128623287, 128623321-128623341 |
| 574 | RHO | 3 | 0.99904489016237 | 1 | 1047 | 129252490 |
| 575 | NPHP3 | 3 | 0.97871274730779 | 85 | 3993 | 132438549-132438551, 132438570-132438576, 132440841-132440848, 132441031, 132441034-132441037, 132441060-132441064, 132441090-132441141, 132441175-132441177, 132441181-132441182 |
| 576 | FOXL2 | 3 | 0.97170645446508 | 32 | 1131 | 138664802-138664805, 138664811-138664814, 138664843-138664846, 138664852-138664854, 138664873-138664889 |
| 577 | EIF2B5 | 3 | 0.99907663896584 | 2 | 2166 | 183853227, 183853284 |
| 578 | ALG3 | 3 | 0.95368261199696 | 61 | 1317 | 183960398-183960399, 183960402-183960405, 183961389-183961395, 183961757-183961762, 183966599, 183966604, 183966620-183966631, 183966655-183966681, 183966715 |
| 579 | CLCN2 | 3 | 0.94660734149055 | 144 | 2697 | 184070081-184070119, 184070533-184070540, 184070549, 184070586-184070589, 184070845-184070852, 184072040-184072047, 184072066-184072069, 184072336-184072347, 184072392-184072394, 184073175-184073181, 184073498, 184075222-184075231, 184075408, 184075412, 184075425-184075438, 184076079-184076092, 184076765-184076773 |
| 580 | CPN2 | 3 | 0.98473748473748 | 25 | 1638 | 194062090-194062100, 194062194-194062205, 194063261, 194063264 |
| 581 | PDE6B | 4 | 0.7692007797271 | 592 | 2565 | 619438, 619443, 619446-619451, 619456, 619467, 619500, 619506-619523, 619546-619563, 619587, 619591-619604, 619637-619639, 619691-619713, 619716-619719, 619724-619725, 619786, 619801-619803, 619862-619881, 647642, 647648-647650, 647655-647657, 647662-647669, 647673-647674, 647677-647678, 647687, 647691, 647702, 647711, 647720, 647751-647763, 647874-647887, 647891, 647913-647943, 648613-648624, 648629, 649741-649761, 650060-650076, 650663-650666, 650686-650694, 650730-650732, 650741, 650788-650790, 651140-651142, 651150, 651153, 651164-651181, 651190-651202, 651216-651259, 651267-651278, 652747, 652754-652764, 652772, 652775-652780, 654257, 655934, 655940, 655998-656004, 656889-656901, 656950-656966, 657559-657572, 657600, 657612-657623, 657628-657636, 657645, 657992-657993, 659063-659064, 659103-659118, 660393-660403, 661699-661701, 661740-661784, 663835-663845, 663855-663896 |
| 582 | IDUA | 4 | 0 | 1962 | 1962 | 980873-981030, 981597-981737, 994400-994485, 994670-994777, 995256-995351, 995467-995669, 995770-995949, 996057-996273, 996520-996732, 996824-996945, 997133-997258, 997337-997413, 997800-997900, 998048-998181 |
| 583 | FGFR3 | 4 | 0.13597033374536 | 2097 | 2427 | 1795662-1795770, 1800981-1801125, 1801135-1801248, 1801474-1801496, 1801503-1801539, 1803094-1803186, 1803192-1803263, 1803347-1803470, 1803562-1803752, 1804641-1804696, 1804707-1804708, 1804716, 1804726-1804775, 1804787-1804791, 1806057-1806191, 1806200-1806241, 1806555-1806589, 1806610-1806696, 1807082-1807100, 1807112-1807126, 1807138-1807139, 1807159-1807194, 1807200-1807203, 1807286-1807343, 1807372-1807396, 1807477-1807507, 1807549-1807573, 1807584-1807653, 1807778-1807803, 1807810-1807825, 1807830, 1807874-1807900, 1807984-1808054, 1808275-1808280, 1808308-1808313, 1808324-1808410, 1808556-1808659, 1808843-1808989 |
| 584 | SH3BP2 | 4 | 0.72805600430802 | 505 | 1857 | 2819951-2819981, 2820013-2820107, 2824757-2824758, 2826418-2826432, 2826441-2826445, 2828989, 2829333-2829350, 2831341, 2831358-2831370, 2831377, 2831383-2831384, 2831404-2831423, 2831440-2831446, 2831494-2831526, 2831555, 2831558-2831564, 2831586-2831588, 2831612-2831661, 2831713-2831759, 2831792-2831799, 2831803, 2831814, 2831860, 2833311, 2833316-2833333, 2833381, 2833386-2833387, 2833655-2833670, 2833691-2833705, 2834058-2834060, 2834101-2834111, 2834128-2834135, 2834139, 2834733, 2835457, 2835479, 2835491, 2835500-2835561 |
| 585 | HTT | 4 | 0.92873051224944 | 672 | 9429 | 3076553-3076561, 3076566, 3076595-3076603, 3076604-3076815, 3213776-3213785, 3213797-3213803, 3213809, 3215709, 3215747, 3231749, 3234890-3234982, 3235001-3235023, 3235068, 3235071, 3237436-3237437, 3237492, 3237947, 3240174-3240189, 3240236, 3240246, 3240250, 3240253-3240255, 3240260, 3240283-3240316, 3240545-3240628, 3240639-3240686, 3240699-3240705, 3241573-3241591, 3241627-3241642, 3241675-3241686, 3241717-3241730, 3241735-3241775 |
| 586 | DOK7 | 4 | 0.19075907590759 | 1226 | 1515 | 3465103-3465156, 3465233-3465264, 3465273, 3475133-3475145, 3475163-3475220, 3475226-3475240, 3475252, 3475259-3475284, 3475292-3475320, 3475327-3475349, 3475356-3475363, 3478084-3478269, 3487274-3487277, 3487280-3487288, 3487296-3487297, 3487301-3487302, 3487305-3487381, 3494486-3494660, 3494674-3494938, 3494958-3494966, 3494992-3495228 |
| 587 | DOK7 | 4 | 0.096446700507614 | 534 | 591 | 3494489-3494660, 3494674-3494938, 3494958-3494966, 3494992-3495079 |
| 588 | MSX1 | 4 | 0.91995614035088 | 73 | 912 | 4861643-4861685, 4861729-4861741, 4861853-4861865, 4861883, 4862093-4862095 |
| 589 | EVC | 4 | 0.98690835850957 | 39 | 2979 | 5713124-5713133, 5713146-5713159, 5713199-5713213 |
| 590 | WFS1 | 4 | 0.84025439580995 | 427 | 2673 | 6279183, 6279192, 6279206-6279211, 6279218-6279229, 6279242-6279414, 6290813, 6292965, 6292985, 6292994, 6293065-6293076, 6293089, 6293645-6293656, 6293696, 6293700-6293701, 6293715-6293724, 6302707, 6302714-6302716, 6302911, 6303138-6303144, 6303147-6303149, 6303168-6303172, 6303176, 6303303-6303325, 6303402, 6303419, 6303524-6303527, 6303532, 6303558, 6303619, 6303627, 6303630-6303654, 6303736-6303762, 6303802-6303807, 6303869-6303899, 6303933-6303979, 6304017, 6304153 |
| 591 | QDPR | 4 | 0.99455782312925 | 4 | 735 | 17513637-17513640 |
| 592 | COQ2 | 4 | 0.98268398268398 | 20 | 1155 | 84205902-84205921 |
| 593 | PKD2 | 4 | 0.98039215686275 | 57 | 2907 | 88928899-88928923, 88928936-88928962, 88929006-88929010 |
| 594 | CISD2 | 4 | 0.88235294117647 | 48 | 408 | 103808498-103808522, 103808565-103808587 |
| 595 | MFSD8 | 4 | 0.98587026332691 | 22 | 1557 | 128859945, 128859948-128859956, 128859970-128859979, 128859982-128859983 |
| 596 | CTSO | 4 | 0.99896480331263 | 1 | 966 | 156874999 |
| 597 | GK | 4 | 0.97412755716005 | 43 | 1662 | 166199284-166199290, 166199345, 166199361, 166199426-166199432, 166199558-166199569, 166199603-166199609, 166199726, 166200025-166200031 |
| 598 | SDHA | 5 | 0.95538847117794 | 89 | 1995 | 223682-223683, 233689-233697, 240518-240527, 251173-251218, 251562-251583 |
| 599 | SLC6A19 | 5 | 0.3496062992126 | 1239 | 1905 | 1201766-1201967, 1208861-1208918, 1208927, 1208938-1208948, 1208954-1209001, 1210559-1210696, 1212478-1212524, 1212538-1212570, 1212577-1212599, 1213578-1213688, 1214068-1214180, 1216710, 1216770-1216793, 1216931, 1216968-1216998, 1217009-1217060, 1219018-1219028, 1219052-1219082, 1219117-1219161, 1219193, 1219202-1219222, 1219620-1219645, 1219650, 1219661, 1219666-1219696, 1219702-1219773, 1219776-1219778, 1221312-1221381, 1221394-1221400, 1221993-1222017 |
| 600 | TERT | 5 | 0.50750220653133 | 1674 | 3399 | 1253863, 1253892-1253908, 1253942-1253946, 1254513-1254535, 1254540, 1254558-1254587, 1254602-1254613, 1255402-1255406, 1255505, 1255520, 1258713-1258722, 1258735-1258744, 1258749-1258774, 1260714-1260715, 1264519-1264536, 1264543-1264608, 1264620, 1264643-1264707, 1266579-1266633, 1268635-1268740, 1271234-1271319, 1272300-1272323, 1272331-1272395, 1278756, 1278766-1278777, 1278792-1278828, 1278851-1278859, 1278892-1278911, 1279406-1279424, 1279426-1279428, 1279430-1279435, 1279438-1279441, 1279448-1279453, 1279468-1279573, 1279581-1279585, 1280284-1280320, 1280343-1280453, 1282661-1282673, 1282687-1282724, 1293430-1293433, 1293607-1293609, 1293632-1293636, 1293649-1293650, 1293754-1293787, 1293891-1293892, 1293952-1293955, 1294091-1294103, 1294171-1294198, 1294235, 1294239-1294304, 1294315-1294321, 1294366-1294382, 1294405-1294421, 1294522, 1294526-1294657, 1294686-1294711, 1294718-1294721, 1294725-1294759, 1294766-1294781, 1294886-1294930, 1294950-1295104 |
| 601 | SLC6A3 | 5 | 0.59957058507783 | 746 | 1863 | 1403092-1403093, 1406303-1406340, 1406348-1406392, 1406399-1406403, 1409154-1409183, 1409190-1409240, 1409836-1409964, 1411358-1411470, 1414806-1414928, 1416278-1416314, 1420684-1420690, 1420716-1420728, 1420755-1420773, 1420782-1420806, 1420811, 1422017-1422105, 1422111-1422129 |
| 602 | SDHA | 5 | 0.96941896024465 | 10 | 327 | 1589426-1589435 |
| 603 | NDUFS6 | 5 | 0.95466666666667 | 17 | 375 | 1801573, 1801577-1801580, 1801592, 1801600-1801608, 1801647-1801648 |
| 604 | AMACR | 5 | 0.99912967798085 | 1 | 1149 | 33998768 |
| 605 | NDUFAF2 | 5 | 0.96078431372549 | 20 | 510 | 60448587-60448606 |
| 606 | HEXB | 5 | 0.99281867145422 | 12 | 1671 | 73981138-73981144, 73981152, 73981158-73981161 |
| 607 | RASA1 | 5 | 0.99936386768448 | 2 | 3144 | 86669980-86669981 |
| 608 | LMNB1 | 5 | 0.91595684270301 | 148 | 1761 | 126113207, 126113221-126113227, 126113232, 126113278-126113283, 126113288-126113320, 126113334-126113352, 126113393-126113397, 126113409-126113413, 126113416, 126113452-126113514, 126113553-126113559 |
| 609 | SLC22A5 | 5 | 0.99940262843489 | 1 | 1674 | 131705882 |
| 610 | TGFBI | 5 | 0.9995126705653 | 1 | 2052 | 135364815 |
| 611 | MYOT | 5 | 0.97595190380762 | 36 | 1497 | 137221810-137221819, 137221862-137221887 |
| 612 | SIL1 | 5 | 0.9992784992785 | 1 | 1386 | 138287517 |
| 613 | MATR3 | 5 | 0.99882075471698 | 3 | 2544 | 138643137-138643138, 138658493 |
| 614 | DIAPH1 | 5 | 0.98900235663786 | 42 | 3819 | 140953560-140953601 |
| 615 | PPP2R2B | 5 | 0.99924924924925 | 1 | 1332 | 146257577 |
| 616 | ADRB2 | 5 | 0.99838969404187 | 2 | 1242 | 148206831, 148207447 |
| 617 | PDE6A | 5 | 0.99457994579946 | 14 | 2583 | 149240506-149240519 |
| 618 | TCOF1 | 5 | 0.93549127640037 | 281 | 4356 | 149737310-149737380, 149748372-149748380, 149748386, 149754361, 149755081, 149755092, 149755099, 149755439-149755467, 149758846-149758852, 149758951, 149758954, 149759218-149759219, 149759263-149759267, 149759270, 149767583, 149767594, 149767642-149767651, 149769517, 149771655, 149771660-149771666, 149771672, 149771693-149771721, 149772320-149772321, 149772338-149772343, 149775924-149775925, 149776075, 149776097-149776144, 149776193, 149776232, 149776290-149776291, 149776381-149776405, 149778585-149778595 |
| 619 | NKX2-5 | 5 | 0.88 | 117 | 975 | 172659572-172659577, 172659767, 172659839-172659876, 172659912-172659917, 172659965-172659983, 172660034-172660055, 172660112-172660117, 172660126, 172660128, 172660142-172660147, 172661931-172661939, 172661989, 172662009 |
| 620 | MSX2 | 5 | 0.89676616915423 | 83 | 804 | 174151715-174151751, 174151756, 174151820, 174151830-174151868, 174151879-174151880, 174151883, 174151894, 174151898 |
| 621 | F12 | 5 | 0.88144329896907 | 69 | 582 | 176829584, 176829592-176829603, 176829610, 176829616, 176829676-176829678, 176830266-176830315, 176830344 |
| 622 | F12 | 5 | 0.68668831168831 | 579 | 1848 | 176829584, 176829592-176829603, 176829610, 176829616, 176829676-176829678, 176830266-176830315, 176830344, 176830490-176830531, 176830541, 176830544-176830548, 176830551-176830598, 176830860-176830902, 176830907, 176830922-176830980, 176830995-176831041, 176831059-176831069, 176831075-176831091, 176831198-176831220, 176831230-176831277, 176831294-176831331, 176831414, 176831500-176831510, 176831544, 176831547-176831549, 176831558-176831560, 176831583-176831636, 176831824-176831829, 176831862-176831863, 176831866-176831867, 176831876, 176832062-176832067, 176832351-176832377, 176832404, 176832426-176832429, 176832972-176832974, 176836524-176836525 |
| 623 | NHP2 | 5 | 0.99134199134199 | 4 | 462 | 177576725, 177580737, 177580748-177580749 |
| 624 | GRM6 | 5 | 0.94798785117692 | 137 | 2634 | 178408672-178408680, 178413451, 178413456-178413460, 178413646-178413660, 178421498-178421539, 178421572-178421573, 178421576-178421579, 178421582-178421597, 178421668-178421675, 178421911-178421945 |
| 625 | SQSTM1 | 5 | 0.8238851095994 | 233 | 1323 | 179247937-179247956, 179247962-179248141, 179249990-179249998, 179250034-179250053, 179250882, 179260213, 179260680, 179263538 |
| 626 | FLT4 | 5 | 0.24486803519062 | 3090 | 4092 | 180038331-180038333, 180043367-180043391, 180043401, 180043411-180043426, 180043433-180043439, 180043450-180043489, 180043908-180043911, 180043926-180043927, 180043938-180043951, 180043962-180043971, 180045770-180045920, 180046021-180046070, 180046080-180046109, 180046253-180046366, 180046665-180046769, 180047173-180047308, 180047609-180047715, 180047876-180048007, 180048106-180048252, 180048542-180048602, 180048618-180048829, 180048839-180048904, 180049731-180049839, 180050935-180051061, 180052869-180053031, 180053111-180053265, 180055882-180055999, 180056259-180056427, 180056696-180056835, 180056943-180057105, 180057225-180057337, 180057555-180057799, 180058682-180058778, 180076488-180076545 |
| 627 | FOXC1 | 6 | 0.18712394705174 | 1351 | 1662 | 1610681-1610974, 1610992-1611215, 1611251-1611586, 1611597-1611850, 1611862-1611863, 1611889-1611944, 1611968-1612065, 1612078-1612123, 1612133-1612152, 1612159-1612164, 1612174-1612182, 1612208-1612213 |
| 628 | TUBB2B | 6 | 0.79820627802691 | 270 | 1338 | 3225013, 3225128, 3225144, 3225232-3225280, 3225303, 3225346, 3225396, 3225435-3225464, 3225486, 3225492-3225493, 3225505, 3225510, 3225546, 3225586-3225629, 3225683, 3225711-3225747, 3225792-3225821, 3225919, 3225961-3226006, 3227721-3227726, 3227729-3227737, 3227752-3227756 |
| 629 | DSP | 6 | 0.99976787372331 | 2 | 8616 | 7542167, 7542257 |
| 630 | ATXN1 | 6 | 0.95792483660131 | 103 | 2448 | 16327857-16327959 |
| 631 | NHLRC1 | 6 | 0.99915824915825 | 1 | 1188 | 18122629 |
| 632 | ALDH5A1 | 6 | 0.99149969641773 | 14 | 1647 | 24495246-24495252, 24495469-24495475 |
| 633 | ZFP57 | 6 | 0.99627560521415 | 6 | 1611 | 29640296-29640301 |
| 634 | NEU1 | 6 | 0.92948717948718 | 88 | 1248 | 31827508-31827509, 31827513-31827523, 31827663, 31828966, 31829800-31829812, 31829839-31829851, 31829866, 31829909-31829938, 31829967-31829968, 31830435-31830440, 31830546-31830553 |
| 635 | CFB | 6 | 0.99868455669561 | 5 | 3801 | 31901393-31901394, 31911726, 31916269, 31916283 |
| 636 | TNXB | 6 | 0.67910834629342 | 619 | 1929 | 31976391-31976408, 31976816, 31976847, 31976892-31976941, 31977149-31977195, 31977363-31977395, 31977511-31977555, 31977568, 31977571-31977572, 31977613-31977640, 31977742-31977758, 31977795, 31977994-31978001, 31978031-31978075, 31978090, 31978123, 31978245-31978280, 31978345-31978361, 31978498-31978542, 31978776-31978793, 31978930-31978934, 31978947-31978957, 31978975, 31979356, 31979363-31979365, 31979414-31979484, 31979492, 31979522, 31979536, 31979554-31979580, 31979623-31979639, 31980000, 31980065-31980113, 31980128-31980142 |
| 637 | CYP21A2 | 6 | 0.82056451612903 | 267 | 1488 | 32006211-32006248, 32006278-32006279, 32006317, 32006337, 32006506, 32006560-32006573, 32006886, 32006945, 32006953, 32006957, 32007884, 32007889-32007904, 32007910, 32007913-32007918, 32007922, 32007932, 32008214, 32008234, 32008263, 32008339-32008346, 32008445-32008455, 32008653, 32008667-32008767, 32008783-32008831, 32008901-32008907 |
| 638 | TNXB | 6 | 0.94555738864011 | 693 | 12729 | 32009126-32009143, 32009211, 32009219, 32009571, 32009627-32009664, 32009676, 32009822-32009826, 32009884-32009890, 32009896-32009935, 32010089-32010130, 32010245-32010275, 32010321, 32010347-32010380, 32010488, 32010512, 32010515, 32010529-32010531, 32010728-32010735, 32010765-32010805, 32010821-32010827, 32010857, 32010997-32011009, 32011079-32011095, 32011214-32011270, 32011532, 32011784-32011785, 32011829, 32011878, 32011900, 32012200, 32012210, 32012217, 32012260-32012343, 32012376, 32012390, 32012394, 32012404-32012434, 32012479-32012488, 32012948-32012974, 32012982-32013027, 32013043-32013053, 32014059, 32014174, 32017056, 32023656-32023673, 32023874, 32023878, 32024398, 32024583, 32024597-32024600, 32025881-32025882, 32025890-32025891, 32025915-32025946, 32026007, 32026052-32026063, 32026077-32026085, 32026089-32026092, 32029175-32029181, 32029226-32029228, 32029420 |
| 639 | HLA-DQA1 | 6 | 0.95182291666667 | 37 | 768 | 32609126, 32609130, 32609139-32609153, 32610387-32610406 |
| 640 | HLA-DQB1 | 6 | 0.81297709923664 | 147 | 786 | 32629124-32629173, 32629224-32629234, 32630025, 32632575-32632653, 32632694, 32632700, 32632711, 32632717, 32632818, 32632832 |
| 641 | COL11A2 | 6 | 0.99904049126847 | 5 | 5211 | 33139506-33139507, 33159977-33159979 |
| 642 | SYNGAP1 | 6 | 0.98164682539683 | 74 | 4032 | 33388042-33388108, 33393630-33393634, 33393638, 33411372 |
| 643 | FANCE | 6 | 0.98013656114215 | 32 | 1611 | 35420393, 35420397-35420399, 35420483, 35420488-35420506, 35423578-35423582, 35423588, 35423595, 35430684 |
| 644 | TULP1 | 6 | 0.95702885205648 | 70 | 1629 | 35479967-35480014, 35480424-35480430, 35480621-35480635 |
| 645 | LHFPL5 | 6 | 0.99545454545455 | 3 | 660 | 35773452-35773454 |
| 646 | MOCS1 | 6 | 0.66248037676609 | 645 | 1911 | 39874182-39874184, 39874213, 39874230, 39874285-39874287, 39874368-39874375, 39874557, 39874638-39874659, 39874699, 39874732-39874739, 39876854, 39880080-39880083, 39880679-39880714, 39881107, 39881142-39881144, 39881171-39881172, 39881539-39881550, 39881559-39881577, 39883812-39883841, 39883866-39883893, 39883906, 39883919-39883959, 39883967, 39893422-39893589, 39895068-39895317 |
| 647 | PEX6 | 6 | 0.9819911654774 | 53 | 2943 | 42934375, 42935202, 42936133-42936136, 42936191-42936198, 42936618, 42936670-42936671, 42936698, 42937462-42937466, 42946470, 42946473, 42946651-42946674, 42946768-42946771 |
| 648 | CUL7 | 6 | 0.99941141848146 | 3 | 5097 | 43008378, 43008721-43008722 |
| 649 | RSPH9 | 6 | 0.98074608904934 | 16 | 831 | 43612860, 43612867, 43612874, 43612916-43612918, 43612921-43612930 |
| 650 | RUNX2 | 6 | 0.98148148148148 | 29 | 1566 | 45390460, 45390463, 45390466, 45390472, 45390475-45390498, 45390507 |
| 651 | MUT | 6 | 0.98979138925877 | 23 | 2253 | 49409553-49409560, 49409630-49409644 |
| 652 | PKHD1 | 6 | 0.999918200409 | 1 | 12225 | 51890110 |
| 653 | RIMS1 | 6 | 0.98306753297893 | 86 | 5079 | 72889289, 72889369-72889372, 72889482, 72889486-72889495, 72892081-72892095, 72892136, 72892281-72892292, 72892327-72892365, 72892373, 72892791-72892792 |
| 654 | OSTM1 | 6 | 0.99601990049751 | 4 | 1005 | 108395737-108395740 |
| 655 | GJA1 | 6 | 0.99390774586597 | 7 | 1149 | 121768922-121768928 |
| 656 | ENPP1 | 6 | 0.99892008639309 | 3 | 2778 | 132129305-132129306, 132129359 |
| 657 | TBP | 6 | 0.96960784313725 | 31 | 1020 | 170871014-170871022, 170871031-170871034, 170871037, 170871043-170871046, 170871054, 170871064-170871067, 170871070-170871073, 170871076, 170871079, 170871093, 170871098 |
| 658 | LFNG | 7 | 0.13157894736842 | 990 | 1140 | 2559496-2559927, 2564329-2564377, 2564856-2564921, 2564928-2564952, 2565048-2565072, 2565085-2565144, 2565161-2565201, 2565340-2565389, 2565397-2565399, 2565403, 2565878-2565887, 2565905-2565909, 2565940-2565973, 2565995, 2566009-2566043, 2566470-2566555, 2566780-2566846 |
| 659 | PMS2 | 7 | 0.94206257242178 | 150 | 2589 | 6013083-6013089, 6022473-6022513, 6026523, 6026775, 6026862-6026868, 6027027, 6027166, 6029435-6029457, 6045529-6045573, 6048628-6048650 |
| 660 | TWIST1 | 7 | 0.69786535303777 | 184 | 609 | 19156567, 19156592-19156593, 19156608-19156622, 19156640-19156654, 19156661-19156664, 19156674-19156701, 19156712-19156726, 19156740-19156762, 19156789-19156832, 19156843-19156871, 19156901-19156904, 19156908, 19156935-19156937 |
| 661 | HOXA13 | 7 | 0.75064267352185 | 291 | 1167 | 27239197-27239224, 27239282-27239289, 27239316-27239419, 27239445-27239593, 27239614, 27239617 |
| 662 | GHRHR | 7 | 0.96462264150943 | 45 | 1272 | 31008451-31008457, 31008522-31008551, 31008710, 31008784, 31009575, 31011628, 31013697-31013699, 31013706 |
| 663 | GLI3 | 7 | 0.96204933586338 | 180 | 4743 | 42004883-42004891, 42004897-42004907, 42004910, 42005098-42005099, 42005109-42005111, 42005116-42005119, 42005125-42005134, 42005157, 42005161-42005180, 42005298-42005304, 42005320, 42005539-42005544, 42005586-42005594, 42005598-42005600, 42005626-42005667, 42005804, 42005808, 42005820, 42005842, 42005868-42005903, 42006111-42006117, 42007199-42007202 |
| 664 | PGAM2 | 7 | 0.54593175853018 | 346 | 762 | 44102414-44102422, 44102461-44102475, 44102518, 44102527, 44104431-44104444, 44104468-44104482, 44104499, 44104502-44104503, 44104536, 44104539, 44104542-44104579, 44104588, 44104598-44104611, 44104721, 44104724-44104755, 44104764-44104801, 44104810-44104824, 44104848-44104881, 44104897-44104899, 44104903-44104914, 44104929, 44104942-44104981, 44105006-44105010, 44105015-44105019, 44105027, 44105040-44105062, 44105104-44105126 |
| 665 | GCK | 7 | 0.76659528907923 | 327 | 1401 | 44184761, 44185126-44185129, 44185180-44185186, 44185197-44185199, 44185208-44185231, 44185241, 44185249, 44185270, 44185318-44185329, 44186062-44186074, 44186089, 44186109-44186127, 44186131-44186135, 44186203, 44187252-44187253, 44187290-44187314, 44187327-44187357, 44187376-44187396, 44189581-44189590, 44190573-44190577, 44190616-44190651, 44190670, 44191874-44191878, 44191900-44191904, 44191911-44191918, 44192015-44192024, 44192931-44192975, 44193029-44193035, 44193040-44193062 |
| 666 | CCM2 | 7 | 0.66067415730337 | 453 | 1335 | 45039939-45039962, 45108105-45108111, 45112375-45112382, 45113059-45113062, 45113080-45113087, 45113093-45113147, 45113157, 45113161, 45113166-45113170, 45113873-45113875, 45113884-45113930, 45113938-45113980, 45113994-45113996, 45115376-45115389, 45115395-45115415, 45115424-45115526, 45115551-45115656 |
| 667 | EGFR | 7 | 0.9906413432425 | 34 | 3633 | 55086971-55086972, 55086992-55087004, 55087034-55087036, 55087043-55087058 |
| 668 | GUSB | 7 | 0.98057259713701 | 38 | 1956 | 65439396-65439402, 65439530-65439555, 65444742-65444743, 65447070-65447072 |
| 669 | ASL | 7 | 0.33835125448029 | 923 | 1395 | 65546820-65546821, 65546884, 65546896-65546914, 65546954, 65546969-65546972, 65547391, 65547397-65547412, 65547883, 65547886-65547891, 65547897-65547899, 65547917-65547923, 65548064-65548125, 65548134-65548161, 65551572-65551649, 65551731-65551806, 65552321-65552322, 65552354-65552373, 65552735-65552741, 65552748-65552778, 65553794-65553908, 65554102-65554162, 65554263-65554320, 65554599-65554604, 65554617-65554654, 65554666-65554682, 65556993-65557030, 65557046-65557073, 65557548-65557559, 65557567-65557592, 65557602, 65557638-65557650, 65557755-65557899 |
| 670 | KCTD7 | 7 | 0.90344827586207 | 84 | 870 | 66094083-66094087, 66094117-66094195 |
| 671 | SBDS | 7 | 0.99468791500664 | 4 | 753 | 66453379-66453382 |
| 672 | NCF1 | 7 | 0.79393939393939 | 170 | 825 | 72639819-72639821, 72639940-72639998, 72640027-72640050, 72643601-72643613, 72643658-72643687, 72644257-72644259, 72645869, 72645877-72645878, 72648699-72648701, 72648719-72648750 |
| 673 | ELN | 7 | 0.84367816091954 | 340 | 2175 | 73442518-73442599, 73457002-73457032, 73459600, 73462867, 73462882-73462884, 73466080-73466087, 73466120, 73466256-73466313, 73467495-73467510, 73467542, 73467551-73467555, 73467601, 73467618, 73471982-73471995, 73471998, 73474233-73474321, 73474471, 73474706-73474713, 73477642-73477653, 73477952, 73477961, 73477971, 73477993, 73478000, 73480277 |
| 674 | NCF1 | 7 | 0.82182438192668 | 209 | 1173 | 74193501-74193503, 74193662-74193680, 74197282-74197288, 74197317, 74197320, 74197339-74197368, 74197388, 74197938, 74199552, 74199607-74199613, 74202378-74202405, 74202417-74202432, 74202917, 74202920, 74202929-74202933, 74202936, 74202944-74202946, 74202953-74202960, 74202970, 74202989-74203048, 74203383-74203394, 74203434, 74203472 |
| 675 | POR | 7 | 0.17670093000489 | 1682 | 2043 | 75608769-75608825, 75608838-75608855, 75608892-75608897, 75609685-75609724, 75609738-75609742, 75609749-75609755, 75609760-75609763, 75609770-75609806, 75610366-75610490, 75610835-75610924, 75611561-75611640, 75612838-75612954, 75613056-75613174, 75614095-75614276, 75614376-75614525, 75614897-75615167, 75615241-75615386, 75615477-75615559, 75615655-75615799 |
| 676 | HSPB1 | 7 | 0.90291262135922 | 60 | 618 | 75932060-75932071, 75932108-75932110, 75932148, 75932178-75932179, 75932198-75932228, 75932378-75932387, 75933178 |
| 677 | AKAP9 | 7 | 0.99982940975776 | 2 | 11724 | 91622227-91622228 |
| 678 | KRIT1 | 7 | 0.99909543193125 | 2 | 2211 | 91852166, 91852169 |
| 679 | SLC25A13 | 7 | 0.99852289512555 | 3 | 2031 | 95775917, 95775925-95775926 |
| 680 | TFR2 | 7 | 0.99459684123026 | 13 | 2406 | 100238614-100238624, 100238653, 100238824 |
| 681 | RELN | 7 | 0.99961453213838 | 4 | 10377 | 103629800-103629803 |
| 682 | CFTR | 7 | 0.99189736664416 | 36 | 4443 | 117188733-117188753, 117188794-117188800, 117188842-117188844, 117188850, 117188874-117188877 |
| 683 | IMPDH1 | 7 | 0.95777777777778 | 76 | 1800 | 128034510, 128038520, 128038535-128038550, 128045866-128045867, 128045898-128045910, 128049826-128049868 |
| 684 | FLNC | 7 | 0.78857911469797 | 1729 | 8178 | 128470692-128470932, 128470953-128471043, 128475399-128475405, 128475472, 128475485-128475486, 128475510-128475526, 128475556-128475589, 128475596-128475628, 128477214-128477238, 128477254-128477311, 128477459-128477556, 128477577-128477602, 128477691-128477706, 128477734-128477736, 128477741, 128477744, 128477777, 128478041-128478042, 128478090-128478118, 128478355-128478358, 128478368-128478372, 128478392, 128478406-128478407, 128478410, 128478425, 128478436-128478437, 128478475-128478483, 128478657, 128478719-128478749, 128478760, 128478766-128478788, 128478799, 128478803, 128478814, 128478831, 128478837, 128478842-128478857, 128480100, 128480103-128480109, 128480124, 128480150, 128480202-128480214, 128480602, 128480608-128480627, 128480632, 128480647, 128480661-128480677, 128480684-128480689, 128480699, 128480709-128480711, 128480728, 128480914, 128480919, 128480995-128481016, 128481237-128481248, 128481258, 128481330-128481355, 128481379-128481417, 128481522, 128481543-128481552, 128481578, 128481588-128481603, 128481613, 128482285-128482290, 128482299, 128482312-128482316, 128482333-128482340, 128482343, 128482348, 128482402, 128482415-128482428, 128482629-128482659, 128482672-128482721, 128482747-128482752, 128482848-128482882, 128482907, 128482981-128482982, 128483336-128483373, 128483468, 128483482, 128483493-128483507, 128483524-128483541, 128483578-128483608, 128483630-128483631, 128483856-128483884, 128483909-128483950, 128484074-128484078, 128484127-128484165, 128484182, 128484185, 128484203, 128484732-128484745, 128484772-128484799, 128484904-128484905, 128484910, 128485002, 128485038-128485041, 128485084, 128485271-128485281, 128486136-128486137, 128486142, 128488121, 128488725-128488728, 128488900-128488917, 128488999, 128489235-128489253, 128489447-128489449, 128489475-128489481, 128489514, 128490469-128490474, 128490522, 128490961-128490965, 128490973, 128490991-128490994, 128491395-128491396, 128491606-128491615, 128492691-128492693, 128492697-128492698, 128492706-128492709, 128492720-128492722, 128492752, 128492778-128492793, 128492892-128492905, 128492973-128492996, 128492999, 128493002-128493004, 128493023-128493029, 128493059-128493061, 128493658-128493660, 128493799, 128493810, 128493823, 128493861, 128493867, 128494069, 128494120-128494123, 128494127, 128494134-128494135, 128494165-128494209, 128494235, 128494255, 128494490, 128494526-128494537, 128494542-128494544, 128494626, 128494629, 128494689, 128494714, 128494728, 128495319, 128495323, 128495330-128495332, 128496656, 128496689-128496690, 128496955-128496956, 128496961-128496962, 128496966, 128496969, 128498062-128498082, 128498227, 128498517 |
| 685 | ATP6V0A4 | 7 | 0.99326198969481 | 17 | 2523 | 138394425-138394432, 138394532-138394540 |
| 686 | BRAF | 7 | 0.99348109517601 | 15 | 2301 | 140624402-140624415, 140624421 |
| 687 | KCNH2 | 7 | 0.90057471264368 | 346 | 3480 | 150642480, 150644730, 150648665, 150648913, 150648920-150648921, 150654552, 150655147-150655232, 150655267-150655281, 150655319-150655323, 150655377, 150655380, 150655491-150655522, 150655542, 150655547-150655551, 150671799-150671801, 150671839-150671903, 150671909-150671949, 150671959, 150671978, 150671984, 150671990-150671991, 150671996, 150672004, 150672012, 150674926-150675001 |
| 688 | PRKAG2 | 7 | 0.99356725146199 | 11 | 1710 | 151272003-151272006, 151329218-151329219, 151372573-151372576, 151372607 |
| 689 | SHH | 7 | 0.31749460043197 | 948 | 1389 | 155595594-155595617, 155595626-155596075, 155596093-155596151, 155596156-155596159, 155596175-155596382, 155596393-155596420, 155599013-155599145, 155599185, 155599200-155599209, 155604517-155604520, 155604773-155604781, 155604785-155604788, 155604803-155604816 |
| 690 | MNX1 | 7 | 0.41044776119403 | 711 | 1206 | 156798245-156798251, 156798259-156798293, 156798304-156798313, 156798329-156798334, 156798350, 156798373-156798406, 156798425-156798446, 156798465-156798485, 156799197-156799198, 156799253-156799267, 156799270-156799283, 156802364-156802405, 156802419, 156802462-156802466, 156802504-156802510, 156802525-156802548, 156802558-156802596, 156802605, 156802620-156803044 |
| 691 | MCPH1 | 8 | 0.9988038277512 | 3 | 2508 | 6264206, 6299606, 6299675 |
| 692 | GATA4 | 8 | 0.70504138449962 | 392 | 1329 | 11565822-11565850, 11565857-11565940, 11565949-11565961, 11565979-11566007, 11566076-11566120, 11566171-11566179, 11566184-11566264, 11566310-11566390, 11566401-11566420, 11566437 |
| 693 | SFTPC | 8 | 0.97643097643098 | 14 | 594 | 22021536-22021549 |
| 694 | CHRNA2 | 8 | 0.99119496855346 | 14 | 1590 | 27320500-27320504, 27321019-27321026, 27321032 |
| 695 | FGFR1 | 8 | 0.99187982135607 | 20 | 2463 | 38287240-38287255, 38287280-38287283 |
| 696 | ADAM9 | 8 | 0.99593495934959 | 10 | 2460 | 38854670-38854679 |
| 697 | ANK1 | 8 | 0.99947312961012 | 3 | 5694 | 41559630-41559632 |
| 698 | THAP1 | 8 | 0.9797507788162 | 13 | 642 | 42693116, 42698167-42698178 |
| 699 | HGSNAT | 8 | 0.95020964360587 | 95 | 1908 | 42995640-42995643, 42995652-42995724, 42995733-42995735, 42995742, 42995745, 42995757, 43014165-43014168, 43014171-43014176, 43014185, 43024345 |
| 700 | CA2 | 8 | 0.99872286079183 | 1 | 783 | 86376318 |
| 701 | TMEM67 | 8 | 0.99933065595716 | 2 | 2988 | 94827550-94827551 |
| 702 | SLURP1 | 8 | 0 | 312 | 312 | 143822561-143822694, 143823221-143823340, 143823746-143823803 |
| 703 | CYP11B2 | 8 | 0.95634920634921 | 66 | 1512 | 143993991, 143996177, 143996311-143996317, 143998549, 143998567-143998601, 143999103-143999106, 143999109, 143999196-143999201, 143999205-143999214 |
| 704 | PLEC | 8 | 0.28758448950551 | 10013 | 14055 | 144990345-144990348, 144990358, 144990366-144990428, 144990462-144990493, 144990505-144990566, 144990585-144990591, 144990597, 144990600-144990604, 144990616-144990622, 144990625-144990626, 144990654, 144990711, 144990743-144990815, 144990826-144990871, 144990883-144990912, 144990946-144990948, 144991037-144991056, 144991065, 144991175-144991207, 144991282, 144991304-144991308, 144991318-144991329, 144991335, 144991341, 144991351, 144991357-144991364, 144991432-144991459, 144991478, 144991614, 144991659, 144991663, 144991702-144991713, 144991758-144991800, 144991819, 144991870-144991871, 144991877-144991880, 144991888-144991891, 144991894-144991897, 144991967, 144991987-144991999, 144992033, 144992060-144992085, 144992095, 144992207-144992248, 144992273-144992274, 144992281-144992291, 144992294, 144992318-144992354, 144992378-144992425, 144992434, 144992439-144992442, 144992449-144992456, 144992459, 144992582-144992652, 144992695-144992697, 144992786-144992809, 144992815-144992817, 144992823-144992825, 144992828-144992868, 144992924, 144992959-144992981, 144992996-144993022, 144993036-144993088, 144993110-144993117, 144993199-144993269, 144993316-144993322, 144993325-144993331, 144993353-144993435, 144993444, 144993447-144993468, 144993482-144993484, 144993488, 144993520, 144993535-144993552, 144993574-144993575, 144993602, 144993633-144993636, 144993639-144993653, 144993663-144993672, 144993688-144993703, 144993712, 144993716-144993717, 144993727-144993756, 144993784-144993809, 144993817-144993891, 144993918, 144993947-144993983, 144994030-144994031, 144994036-144994040, 144994043-144994045, 144994077-144994093, 144994132-144994140, 144994183, 144994194-144994204, 144994329-144994443, 144994563-144994599, 144994623-144994661, 144994671-144994704, 144994716-144994779, 144994794-144994796, 144994807-144994861, 144994935-144994936, 144994967-144994985, 144995011-144995133, 144995147-144995173, 144995260, 144995269, 144995272, 144995321, 144995329-144995353, 144995371-144995407, 144995428, 144995440-144995484, 144995490-144995533, 144995542-144995547, 144995550-144995586, 144995614-144995629, 144995669-144995729, 144995751-144995753, 144995767-144995863, 144995878-144995907, 144995916-144995953, 144995971-144996006, 144996017, 144996025-144996036, 144996062-144996083, 144996097-144996119, 144996139-144996295, 144996306-144996334, 144996341, 144996361-144996400, 144996441-144996460, 144996491-144996563, 144996672-144996729, 144996739-144996742, 144996748-144996759, 144996774, 144996784-144996801, 144996815-144996817, 144996832, 144996841-144996927, 144996934-144996961, 144996967-144997039, 144997054-144997146, 144997151, 144997192, 144997201, 144997210-144997230, 144997233-144997234, 144997240, 144997250-144997270, 144997280-144997303, 144997313-144997341, 144997369, 144997379, 144997381-144997393, 144997404-144997409, 144997419-144997420, 144997443-144997518, 144997523-144997527, 144997531, 144997542-144997560, 144997586, 144997597-144997617, 144997631-144997712, 144997725, 144997734-144997807, 144997813-144998128, 144998145-145000052, 145000952-145001050, 145001145-145001239, 145001248-145001249, 145001420-145001503, 145001578-145001607, 145001614-145001934, 145002022-145002160, 145003285-145003449, 145003582-145003687, 145003711-145003739, 145003814-145003997, 145004104-145004230, 145004312-145004345, 145004358-145004466, 145004552-145004656, 145004665, 145004676-145004704, 145005702-145005812, 145005824-145005827, 145006105-145006200, 145006298-145006402, 145006568-145006729, 145006803-145006880, 145006961-145007064, 145007088-145007090, 145007100-145007279, 145007365-145007519, 145008166-145008259, 145008486-145008591, 145008602-145008613, 145008803-145008835, 145008870-145008898, 145008978-145009097, 145009179-145009285, 145009366-145009481, 145010016-145010182, 145011147-145011239, 145011333-145011410, 145012319-145012408, 145012833-145012858, 145024360-145024361, 145024364-145024399, 145024411, 145024421, 145024430-145024509, 145024522-145024531, 145024542-145024739, 145024748-145024788, 145024800-145024874 |
| 705 | GPT | 8 | 0.01140174379611 | 1474 | 1491 | 145729688-145729758, 145729765-145729849, 145729987-145730076, 145730154-145730262, 145730381-145730503, 145730629-145730872, 145731231-145731310, 145731378-145731514, 145731615-145731789, 145731884-145732039, 145732114-145732226, 145732293-145732383 |
| 706 | RECQL4 | 8 | 0.032258064516129 | 3510 | 3627 | 145736814-145736938, 145737064-145737172, 145737294-145737450, 145737527-145737707, 145737775-145737944, 145738025-145738154, 145738230-145738521, 145738601-145738768, 145738770-145738864, 145738955-145739096, 145739312-145739474, 145739480-145739491, 145739573-145739746, 145739826-145739864, 145739872-145739909, 145740320-145740405, 145740412-145740418, 145740426-145740456, 145740534-145740626, 145740710-145740803, 145740813-145740841, 145741148-145741186, 145741204-145741274, 145741372-145741607, 145741613-145741621, 145741630-145741632, 145741637, 145741646-145742061, 145742070, 145742081-145742122, 145742141-145742143, 145742434-145742574, 145742798-145742892, 145742986-145743019, 145743085-145743168 |
| 707 | DOCK8 | 9 | 0.9831746031746 | 106 | 6300 | 332435-332436, 396788-396818, 396832-396872, 399190-399198, 399226, 399230-399233, 404922, 405061-405073, 407002-407004, 421032 |
| 708 | VLDLR | 9 | 0.98169336384439 | 48 | 2622 | 2622190-2622203, 2622215-2622247, 2622250 |
| 709 | SLC1A1 | 9 | 0.99873015873016 | 2 | 1575 | 4490743-4490744 |
| 710 | GLDC | 9 | 0.97649363369246 | 72 | 3063 | 6645264-6645280, 6645342-6645343, 6645355-6645383, 6645462-6645482, 6645497-6645499 |
| 711 | B4GALT1 | 9 | 0.9874686716792 | 15 | 1197 | 33167106-33167110, 33167137-33167146 |
| 712 | FANCG | 9 | 0.98555377207063 | 27 | 1869 | 35075005, 35075010-35075011, 35075522, 35075737-35075751, 35076762, 35078262, 35079198-35079201, 35079204, 35079208 |
| 713 | GRHPR | 9 | 0.99797365754813 | 2 | 987 | 37422824, 37424950 |
| 714 | FXN | 9 | 0.97156398104265 | 18 | 633 | 71650822-71650839 |
| 715 | ROR2 | 9 | 0.96786723163842 | 91 | 2832 | 94493224, 94495407, 94495411-94495425, 94495428, 94495433, 94495476, 94495479, 94495578-94495615, 94495662, 94712178-94712182, 94712188-94712189, 94712215-94712224, 94712232-94712245 |
| 716 | FBP1 | 9 | 0.99705014749263 | 3 | 1017 | 97365841-97365843 |
| 717 | PTCH1 | 9 | 0.99033149171271 | 42 | 4344 | 98270495, 98270541-98270554, 98270592-98270604, 98270615-98270616, 98270620-98270630, 98270643 |
| 718 | FOXE1 | 9 | 0.90374331550802 | 108 | 1122 | 100616266-100616278, 100616305-100616334, 100616697-100616737, 100616744-100616751, 100616753, 100616756-100616766, 100616770-100616771, 100617044-100617045 |
| 719 | TGFBR1 | 9 | 0.98743386243386 | 19 | 1512 | 101867534-101867552 |
| 720 | ALAD | 9 | 0.99798590130916 | 2 | 993 | 116153123-116153124 |
| 721 | DFNB31 | 9 | 0.99486049926579 | 14 | 2724 | 117168698-117168711 |
| 722 | CDK5RAP2 | 9 | 0.99771207321366 | 13 | 5682 | 123171417-123171423, 123253601-123253606 |
| 723 | GSN | 9 | 0.99191145168157 | 19 | 2349 | 124074726-124074729, 124074738, 124074742-124074747, 124088862, 124089734-124089740 |
| 724 | NR5A1 | 9 | 0.58730158730159 | 572 | 1386 | 127245037-127245060, 127245104-127245108, 127245145, 127245149, 127245152, 127245155-127245184, 127253433, 127253467, 127253470-127253472, 127253502, 127255361-127255377, 127255396-127255428, 127262369-127262402, 127262440, 127262463-127262511, 127262517-127262563, 127262593-127262621, 127262636-127262637, 127262643, 127262712-127262723, 127262750-127262827, 127262839-127262843, 127262846, 127262854-127262891, 127262925, 127262992, 127265358-127265451, 127265499, 127265573-127265574, 127265587-127265609, 127265626-127265660 |
| 725 | LMX1B | 9 | 0.90080428954424 | 111 | 1119 | 129376798-129376867, 129377662-129377667, 129377679-129377713 |
| 726 | STXBP1 | 9 | 0.99172185430464 | 15 | 1812 | 130374683-130374688, 130374691-130374699 |
| 727 | ENG | 9 | 0.97066262013151 | 58 | 1977 | 130578257, 130580635, 130580653, 130588019, 130616572-130616605, 130616615-130616634 |
| 728 | GLE1 | 9 | 0.99761564139247 | 5 | 2097 | 131267154-131267157, 131267166 |
| 729 | DOLK | 9 | 0.86394557823129 | 220 | 1617 | 131707988-131708032, 131708180, 131708208, 131708211-131708228, 131708301-131708307, 131708506, 131708510-131708520, 131708613-131708656, 131708891-131708928, 131709001, 131709035-131709036, 131709079-131709084, 131709089-131709090, 131709147-131709149, 131709234, 131709277, 131709389, 131709402-131709404, 131709411-131709421, 131709438, 131709472-131709486, 131709550, 131709557, 131709561-131709565 |
| 730 | TOR1A | 9 | 0.98998998998999 | 10 | 999 | 132586189, 132586295, 132586354, 132586358-132586364 |
| 731 | ASS1 | 9 | 0.98062953995157 | 24 | 1239 | 133346245, 133364767-133364785, 133370336-133370339 |
| 732 | POMT1 | 9 | 0.94719926538108 | 115 | 2178 | 134379669-134379676, 134382790-134382793, 134394265-134394274, 134394339-134394344, 134394833-134394840, 134395482-134395500, 134396733, 134396737-134396739, 134396832-134396837, 134397434-134397448, 134397472-134397478, 134397568-134397570, 134397577, 134397595-134397600, 134398328-134398343, 134398441-134398442 |
| 733 | TSC1 | 9 | 0.98712446351931 | 45 | 3495 | 135771987-135772005, 135772832-135772845, 135772923-135772929, 135772997, 135776988-135776991 |
| 734 | CEL | 9 | 0.73535887274328 | 601 | 2271 | 135937416-135937417, 135937423, 135937439-135937455, 135939800-135939804, 135939916, 135939932, 135940093-135940101, 135940107, 135944192-135944220, 135944521-135944527, 135944583-135944589, 135945994-135946018, 135946517-135946521, 135946566-135946933, 135946940-135947026, 135947039-135947074 |
| 735 | SURF1 | 9 | 0.70099667774086 | 270 | 903 | 136218835-136218837, 136218916-136218917, 136219322-136219340, 136219554, 136220633-136220671, 136220694, 136220698-136220721, 136221514-136221553, 136221596, 136221725-136221727, 136221767-136221769, 136221773-136221775, 136221778, 136221784-136221812, 136223124-136223148, 136223154-136223175, 136223276-136223329 |
| 736 | ADAMTS13 | 9 | 0.62628384687208 | 1601 | 4284 | 136287642-136287643, 136288221, 136288226, 136288253-136288255, 136291067-136291071, 136291093-136291098, 136291181, 136291387-136291426, 136291462, 136293754-136293891, 136295059-136295192, 136295206-136295221, 136297742-136297780, 136297786-136297813, 136298513-136298559, 136298573-136298575, 136298583, 136298600, 136298606-136298609, 136298627, 136298635-136298644, 136298774-136298803, 136298815-136298824, 136301950-136301962, 136301976-136301987, 136302002, 136302016-136302069, 136302869-136302875, 136302901-136302927, 136302932, 136302936-136302945, 136303388-136303396, 136303437-136303438, 136303446-136303455, 136303464-136303469, 136303479, 136304507-136304513, 136305500-136305512, 136305537-136305583, 136305607, 136305638-136305646, 136307536-136307553, 136307563-136307588, 136307591, 136307625, 136307735-136307741, 136307782-136307789, 136307818-136307849, 136308497-136308515, 136308550-136308561, 136308589-136308607, 136308641-136308657, 136308667, 136310035-136310057, 136310119-136310134, 136310139-136310141, 136310155, 136310840-136310842, 136310847-136310859, 136310863-136310865, 136310926-136310940, 136313729, 136313756-136313759, 136313824-136313825, 136313830, 136313839, 136313842, 136313846, 136314937-136314960, 136315000-136315012, 136315045-136315048, 136319592-136319604, 136319629-136319633, 136319642-136319700, 136319703-136319704, 136319709-136319711, 136320441-136320455, 136320480-136320501, 136320504-136320505, 136320527-136320567, 136320589-136320622, 136320686, 136320694, 136320698, 136320703, 136320718-136320725, 136321195-136321237, 136321260-136321296, 136321307, 136321680-136321684, 136321687-136321690, 136321734-136321774, 136321789-136321831, 136323032-136323044, 136323065-136323068, 136323072-136323091, 136323137-136323163, 136323176-136323182, 136323199-136323203, 136324174-136324250, 136324258-136324281 |
| 737 | DBH | 9 | 0.6504854368932 | 648 | 1854 | 136501543-136501572, 136501777, 136505011-136505042, 136505108, 136505114, 136508566-136508574, 136508681-136508697, 136509429-136509442, 136513013, 136513016, 136513044-136513065, 136513093-136513097, 136513108, 136516756-136516818, 136516825-136516899, 136517368-136517384, 136517390-136517403, 136518074-136518080, 136521645-136521770, 136522192-136522274, 136522280, 136522300, 136522330-136522351, 136523449, 136523464-136523566 |
| 738 | SARDH | 9 | 0.64309031556039 | 984 | 2757 | 136529011-136529100, 136529113-136529136, 136531857-136531992, 136535706-136535874, 136536657-136536819, 136550326, 136550355-136550359, 136550362, 136550369-136550371, 136550377, 136555502-136555511, 136555514-136555517, 136555539-136555571, 136555592-136555614, 136555629, 136555646-136555649, 136559380-136559385, 136559412-136559451, 136559460, 136559475-136559493, 136561345-136561371, 136561424-136561427, 136568038-136568051, 136568070-136568084, 136568107-136568110, 136568118-136568119, 136570083, 136570105, 136573409-136573455, 136573464-136573479, 136573533-136573539, 136573542-136573550, 136577751, 136577757-136577758, 136577768, 136577803, 136577809, 136577816-136577831, 136578160-136578180, 136578200-136578210, 136578216, 136578231-136578246, 136582469-136582472, 136582577, 136584069, 136584121-136584135, 136584154-136584164 |
| 739 | COL5A1 | 9 | 0.69838680442269 | 1664 | 5517 | 137534034-137534127, 137534140-137534142, 137582758-137582925, 137591755-137591968, 137593026-137593179, 137619192-137619195, 137620541-137620547, 137620597-137620633, 137620644-137620653, 137622173, 137622184-137622191, 137622218, 137622268-137622272, 137622298, 137623350-137623357, 137623435-137623453, 137623470-137623509, 137630626-137630629, 137642398-137642414, 137642450-137642462, 137642652-137642728, 137644435-137644465, 137644480-137644491, 137645696-137645749, 137646119-137646172, 137648632-137648635, 137648642, 137650107, 137650110-137650121, 137653814-137653824, 137655539-137655551, 137655555, 137655563-137655583, 137657565, 137658332, 137660288-137660306, 137664669-137664680, 137666743-137666758, 137671948-137671956, 137671980-137671992, 137674513-137674566, 137676835-137676882, 137676890-137676942, 137677841-137677847, 137677865-137677894, 137681051-137681053, 137687111, 137687125, 137687144-137687147, 137688243, 137688249, 137688252-137688264, 137688698-137688704, 137688736-137688747, 137690303, 137693802, 137693822, 137693825-137693839, 137694770-137694777, 137694840, 137703378, 137704335, 137704338, 137704536, 137704539, 137705829-137705882, 137706653-137706688, 137706727-137706729, 137706734, 137706742-137706750, 137707447-137707450, 137707801-137707814, 137708874-137708875, 137710502-137710511, 137710555, 137710562-137710576, 137710694-137710741, 137713966, 137714876-137714879, 137716684-137716686, 137726972-137726981, 137727006-137727011, 137727044-137727047, 137727050 |
| 740 | LHX3 | 9 | 0.65260545905707 | 420 | 1209 | 139089220-139089252, 139089278-139089345, 139089364-139089367, 139089381-139089393, 139089398-139089400, 139089418-139089449, 139089507, 139089561-139089589, 139090499-139090509, 139090551, 139090554-139090559, 139090603, 139090639-139090652, 139090754, 139090757-139090781, 139090798, 139090809-139090859, 139090885-139090905, 139091542-139091544, 139091654-139091656, 139091680-139091682, 139091687, 139092428-139092437, 139092479, 139092483, 139092571-139092579, 139094792, 139094806, 139094814-139094885 |
| 741 | INPP5E | 9 | 0.10956072351421 | 1723 | 1935 | 139324127-139324195, 139324790-139324791, 139324802, 139324810-139324816, 139324847-139324859, 139324862-139324865, 139325454-139325505, 139325512-139325569, 139326276-139326437, 139326931-139327038, 139327408-139327444, 139327450-139327527, 139327607-139327731, 139328489-139328586, 139329192-139329315, 139333060-139333089, 139333096-139333247, 139333262-139333359, 139333367-139333871 |
| 742 | NOTCH1 | 9 | 0.0054773082942097 | 7626 | 7668 | 139390523-139392010, 139393351-139393392, 139393400-139393448, 139393564-139393636, 139393650-139393699, 139393704-139393711, 139395004-139395299, 139396200-139396311, 139396317-139396365, 139396453-139396540, 139396724-139396940, 139397634-139397782, 139399125-139399556, 139399762-139400333, 139400979-139401091, 139401168-139401425, 139401757-139401889, 139402407-139402591, 139402684-139402837, 139403322-139403523, 139404185-139404285, 139404296-139404413, 139405105-139405257, 139405604-139405723, 139407473-139407586, 139407844-139407989, 139408962-139409154, 139409742-139409852, 139409935-139410165, 139410433-139410546, 139411724-139411837, 139412204-139412389, 139412589-139412744, 139413043-139413276, 139413895-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438554, 139440178-139440238 |
| 743 | AGPAT2 | 9 | 0.013142174432497 | 826 | 837 | 139568204-139568379, 139569187-139569259, 139571037-139571132, 139571413-139571531, 139571543-139571588, 139571875-139572008, 139581628-139581809 |
| 744 | SLC34A3 | 9 | 0.14 | 1548 | 1800 | 140126159-140126170, 140126204-140126239, 140126542-140126555, 140126589-140126594, 140127038, 140127048-140127155, 140127246-140127379, 140127456-140127496, 140127505-140127509, 140127513-140127551, 140127563-140127567, 140127661-140127756, 140127781-140127813, 140127825-140127834, 140128085-140128134, 140128141-140128143, 140128155-140128174, 140128315-140128393, 140128561-140128728, 140128868-140128984, 140129059-140129069, 140129089-140129183, 140130404-140130868 |
| 745 | EHMT1 | 9 | 0.64305876315114 | 1391 | 3897 | 140513481-140513501, 140605419-140605482, 140611078-140611634, 140622825-140622827, 140622832, 140622835, 140622860-140622917, 140622942-140622948, 140638501-140638523, 140638529, 140669561-140669704, 140671070-140671109, 140671117-140671128, 140671132-140671140, 140671151-140671190, 140671199-140671221, 140671227-140671296, 140672355-140672429, 140672437-140672502, 140674087-140674091, 140674096-140674111, 140674149-140674169, 140676807, 140676810-140676812, 140676824, 140676833-140676849, 140685389-140685395, 140707469, 140708930, 140708939-140708941, 140728801-140728818, 140728834-140728838, 140728880-140728881, 140728894-140728916, 140728923, 140728929-140728930, 140728961-140728963, 140728966-140728976, 140729278-140729282, 140729285-140729303, 140729326-140729329, 140729334, 140729356-140729357, 140729382-140729383, 140729404-140729405 |
| 746 | SHOX | X | 0.4971558589306 | 442 | 879 | 591633-591909, 595361-595364, 595370, 595390-595419, 595432-595561 |
| 747 | CSF2RA | X | 0.43524904214559 | 737 | 1305 | 1401597-1401635, 1404671-1404738, 1404761-1404784, 1404801, 1407698, 1407743, 1409230-1409340, 1409371-1409391, 1413221-1413354, 1414320-1414349, 1419384-1419519, 1422154-1422255, 1422816-1422837, 1422848-1422860, 1422868, 1422905-1422912, 1424379-1424395, 1428306-1428307, 1428367-1428372 |
| 748 | ARSE | X | 0.99943502824859 | 1 | 1770 | 2852951 |
| 749 | GPR143 | X | 0.99529411764706 | 6 | 1275 | 9733718-9733723 |
| 750 | SMS | X | 0.99545867393279 | 5 | 1101 | 21958954-21958958 |
| 751 | ARX | X | 0.94020130254589 | 101 | 1689 | 25031447, 25031543-25031560, 25031647-25031684, 25031798-25031809, 25031877-25031908 |
| 752 | GK | X | 0.9927797833935 | 12 | 1662 | 30737540-30737551 |
| 753 | RPGR | X | 0.70945359930616 | 1005 | 3459 | 38144806-38144830, 38144873-38144882, 38144893-38144898, 38145055-38145056, 38145062-38145066, 38145103, 38145135-38145149, 38145167-38145200, 38145214-38145227, 38145250-38145879, 38145885-38145906, 38145922, 38145932-38146031, 38146091-38146120, 38146136, 38146139-38146197, 38146243-38146259, 38146362-38146368, 38146455-38146463, 38147137-38147139, 38147213-38147226 |
| 754 | NYX | X | 0.89764868603043 | 148 | 1446 | 41332855-41332875, 41332885, 41332889-41332890, 41332947-41332962, 41333056-41333065, 41333109-41333116, 41333203-41333242, 41333286-41333290, 41333299-41333300, 41333342-41333345, 41333404, 41333446-41333452, 41333456-41333482, 41333544, 41333547-41333548, 41333551 |
| 755 | CACNA1F | X | 0.99275362318841 | 43 | 5934 | 49061662, 49062200-49062205, 49063196-49063208, 49063475-49063476, 49065132-49065135, 49066150-49066157, 49066211-49066219 |
| 756 | FOXP3 | X | 0.97145061728395 | 37 | 1296 | 49107853-49107856, 49110500-49110507, 49110519, 49114781-49114786, 49114848-49114851, 49114910-49114923 |
| 757 | FGD1 | X | 0.9989604989605 | 3 | 2886 | 54521829-54521831 |
| 758 | AR | X | 0.99674267100977 | 9 | 2763 | 66765159-66765164, 66766357-66766359 |
| 759 | OPHN1 | X | 0.99958488999585 | 1 | 2409 | 67652717 |
| 760 | DLG3 | X | 0.99714751426243 | 7 | 2454 | 69665119-69665125 |
| 761 | TAF1 | X | 0.99067229848645 | 53 | 5682 | 70586180-70586228, 70587982-70587983, 70587997, 70588000 |
| 762 | ATP7A | X | 0.99533644237175 | 21 | 4503 | 77298232-77298252 |
| 763 | TIMM8A | X | 0.99319727891156 | 2 | 294 | 100603538-100603539 |
| 764 | CUL4B | X | 0.99598832968636 | 11 | 2742 | 119675519-119675525, 119694348-119694351 |
| 765 | XIAP | X | 0.99531459170013 | 7 | 1494 | 123040945-123040951 |
| 766 | ZIC3 | X | 0.99786324786325 | 3 | 1404 | 136648985-136648987 |
| 767 | SOX3 | X | 0.99850857568978 | 2 | 1341 | 139586497-139586498 |
| 768 | FAM58A | X | 0.97959183673469 | 15 | 735 | 152864477-152864480, 152864483, 152864504, 152864513-152864521 |
| 769 | SLC6A8 | X | 0.7269392033543 | 521 | 1908 | 152954030-152954291, 152956759-152956770, 152956865-152956880, 152956950-152956951, 152957462-152957490, 152958625-152958630, 152958940-152958956, 152959000-152959003, 152959360-152959361, 152959603-152959645, 152959839-152959883, 152959988-152960032, 152960062-152960072, 152960233-152960256, 152960330-152960332 |
| 770 | ABCD1 | X | 0.78060768543342 | 491 | 2238 | 152990722-152990747, 152990772-152990786, 152990791, 152990801-152990802, 152990819-152990820, 152990861, 152990872-152990906, 152990915, 152990920-152990922, 152990935-152991029, 152991074-152991118, 152991143-152991155, 152991195-152991207, 152991249-152991284, 152991368-152991410, 152991441-152991443, 152991479-152991499, 152991532-152991557, 152991582-152991583, 153001637-153001645, 153001914-153001921, 153008675-153008678, 153008723, 153008731, 153008776-153008791, 153008981-153008988, 153009017, 153009027, 153009030, 153009080-153009108, 153009132-153009155, 153009168, 153009178-153009181 |
| 771 | L1CAM | X | 0.98516163222046 | 56 | 3774 | 153128270-153128278, 153129460-153129462, 153129465-153129466, 153130128-153130133, 153130437, 153130441-153130444, 153133806, 153134131-153134134, 153135054-153135056, 153135551-153135559, 153136579-153136592 |
| 772 | AVPR2 | X | 0.95698924731183 | 48 | 1116 | 153171008, 153171058-153171064, 153171067-153171069, 153171073-153171083, 153171472-153171475, 153171735-153171749, 153171839-153171842, 153171850, 153171853, 153171862 |
| 773 | MECP2 | X | 0.98396793587174 | 24 | 1497 | 153363061-153363066, 153363072-153363081, 153363089-153363095, 153363100 |
| 774 | OPN1LW | X | 0.97899543378995 | 23 | 1095 | 153409774-153409778, 153421807, 153424294-153424302, 153424317, 153424354-153424360 |
| 775 | OPN1MW | X | 0.95433789954338 | 50 | 1095 | 153455586, 153455590, 153455598, 153458937, 153458975-153459010, 153461424-153461432, 153461447 |
| 776 | OPN1MW | X | 0.97442922374429 | 28 | 1095 | 153492704, 153492708, 153492716, 153496096-153496103, 153498542-153498550, 153498565, 153498602-153498608 |
| 777 | FLNA | X | 0.67396777442095 | 2590 | 7944 | 153577261, 153577351-153577380, 153577392-153577404, 153577731-153577735, 153577768-153577775, 153577786, 153577813-153577858, 153577881-153577884, 153577926-153577933, 153578102, 153578105-153578118, 153578188-153578195, 153578405-153578406, 153578410-153578463, 153578561-153578568, 153579325-153579328, 153579964-153579981, 153580265-153580271, 153580347-153580364, 153580554-153580562, 153580653-153580660, 153580681-153580724, 153580752-153580753, 153580952, 153580955, 153580960-153580965, 153581002-153581043, 153581140-153581173, 153581370, 153581377-153581396, 153581422-153581489, 153581519-153581523, 153581551, 153581554-153581555, 153581560-153581572, 153581714-153581733, 153581738-153581745, 153581749, 153581759-153581769, 153581800-153581801, 153581804-153581809, 153581813-153581822, 153581923-153581927, 153582340-153582343, 153582546-153582561, 153582612-153582616, 153582656-153582657, 153582993-153583035, 153583062-153583065, 153583070-153583079, 153583281-153583288, 153583316-153583343, 153583389-153583391, 153585626-153585636, 153585802-153585827, 153585918-153585927, 153585953-153585956, 153585981-153585991, 153586567-153586579, 153586588, 153586602-153586619, 153586632-153586637, 153586688-153586693, 153586833-153586847, 153586921-153586936, 153587468-153587469, 153587510-153587516, 153587520-153587522, 153587614-153587651, 153587677-153587699, 153587763-153587766, 153587852, 153587890-153587897, 153587944-153587947, 153587986-153588014, 153588100-153588123, 153588148-153588155, 153588195, 153588201-153588273, 153588358-153588434, 153588460-153588489, 153588535-153588545, 153588560, 153588592-153588598, 153588625-153588650, 153588830-153588880, 153588902-153588906, 153588914, 153588917-153588920, 153589676-153589678, 153589692, 153589734-153589742, 153589786-153589836, 153589862-153589877, 153589881-153589883, 153589886, 153590043-153590091, 153590095, 153590133-153590155, 153590347-153590394, 153590443-153590463, 153590487-153590505, 153590610, 153590639-153590641, 153590653-153590665, 153590668, 153590691, 153590696, 153590800-153590808, 153590834-153590880, 153590907-153590939, 153591029-153591069, 153591098-153591116, 153591135, 153591139-153591152, 153592415-153592423, 153592451-153592459, 153592505-153592506, 153592533, 153592652-153592653, 153592668-153592697, 153592729-153592734, 153592903-153592981, 153593016-153593026, 153593042-153593083, 153593211-153593263, 153593289-153593309, 153593318-153593325, 153593504-153593541, 153593578-153593581, 153593717-153593788, 153593791-153593792, 153593815-153593845, 153593853-153593854, 153594392-153594420, 153594443-153594472, 153594500-153594525, 153594574-153594583, 153594676-153594677, 153594722-153594728, 153594731, 153594754-153594759, 153594762-153594769, 153594778, 153594930-153594944, 153595006-153595007, 153595100-153595113, 153595163-153595179, 153595779-153595782, 153595794-153595805, 153595832-153595835, 153595899-153595901, 153596009-153596030, 153596056-153596074, 153596101-153596103, 153596246-153596247, 153596250, 153596258, 153596261-153596264, 153599241-153599247, 153599290-153599313, 153599380, 153599383, 153599391-153599585 |
| 778 | EMD | X | 0.79869281045752 | 154 | 765 | 153607845-153607926, 153608050-153608060, 153608087-153608104, 153608134-153608137, 153608142-153608143, 153608154, 153609113-153609115, 153609144, 153609261-153609272, 153609352-153609358, 153609416-153609423, 153609491-153609495 |
| 779 | TAZ | X | 0.84537389100127 | 122 | 789 | 153640181-153640242, 153640426-153640458, 153640465, 153640468-153640470, 153640522-153640541, 153641581-153641582, 153641892 |
| 780 | G6PD | X | 0.96336996336996 | 60 | 1638 | 153760301-153760305, 153760602, 153760606-153760607, 153760611, 153760645-153760673, 153761228-153761236, 153761876-153761884, 153762618-153762621 |
| 781 | IKBKG | X | 0.99931693989071 | 1 | 1464 | 153788732 |
| Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
|---|---|---|---|---|---|---|
| 4 | ANGPTL4-E40K | het unknown | 0.011 | Dominant pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 4 | ANGPTL4-T266M | het unknown | 0.290 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 3 | COL4A1-Q1334H | het unknown | 0.325 | Dominant pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview |
| 3 | COL4A1-T555P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 3 | COL4A1-V7L | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | PINK1-R279H | het unknown | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.912 (probably damaging), Testable gene in GeneTests with associated GeneReview | |
| 2.5 | PINK1-A340T | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | PINK1-N521T | het unknown | 0.269 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | APOB-S4338N | het unknown | 0.802 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-P2739L | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-I2313V | het unknown | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-Y1422C | homozygous | 1.000 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-A618V | het unknown | 0.366 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | DPYD-I543V | het unknown | 0.185 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | DPYD-M166V | het unknown | 0.078 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 2 | DPYD-R29C | het unknown | 0.714 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | PCSK9-G670E | homozygous | 0.888 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | MSH6-S459C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 2 | MSH6-V878A | het unknown | 0.006 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
| 2 | MEFV-R202Q | homozygous | 0.178 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview |
| 2 | APOE-R176C | homozygous | 0.068 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 2 | TP53-P72R | homozygous | 0.628 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview |
| 2 | SEPT9-P145L | homozygous | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.926 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 2 | KCNJ11-V337I | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | KCNJ11-K23E | homozygous | 0.738 | Unknown protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-M523T | het unknown | 0.415 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-L425S | homozygous | 0.863 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-W112R | homozygous | 0.917 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.5 | CST3-A25T | homozygous | 0.171 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | APOA5-S19W | het unknown | 0.065 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.778 (possibly damaging) |
| 1.5 | CHRNA5-V134I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1.5 | CHRNA5-D398N | homozygous | 0.249 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 1 | FERMT1-R526K | homozygous | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | C5orf20-R117* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | C5orf20-N97D | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | C5orf20-T75P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | PAX3-T315K | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ERV3-N566S | homozygous | 0.918 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ERV3-N478S | homozygous | 0.925 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ERV3-R220* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | ERV3-C189Y | homozygous | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ERV3-T87I | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | C19orf55-A325V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | C19orf55-K365N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | C19orf55-G398Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CXorf59-R424Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | AP1S2-T35A | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | AP1S2-R29P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | AP1S2-R29P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | COG1-E453Q | homozygous | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | ATG9B-A765Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NOX1-D360N | homozygous | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 1 | CEP290-K838E | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | CEP290-R557H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | GPHB5-F53Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | KCP-H313Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | KCP-A16Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SP100-V399Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SP100-M433V | homozygous | 0.247 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 1 | SP100-M826T | homozygous | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | NR_027127-W61* | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | HTT-G893R | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | HTT-V1064I | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HTT-E2643Del | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TGIF1-P83Shift | het unknown | 0.139 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests with associated GeneReview |
| 1 | NR_027052-Q90* | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | TRIM64-I58T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-V68L | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-R162S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | TRIM64-V238M | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-E242V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-Q358R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-Q405R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | OPN1LW-I111V | homozygous | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | OPN1LW-S116Y | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | GABRG2-I215V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | B3GNT6-L316Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | B3GNT6-L335Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NPC1-I858V | het unknown | 0.445 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | NPC1-M642I | het unknown | 0.738 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NPC1-H215R | het unknown | 0.296 | Complex/Other protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ALX4-P102S | homozygous | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ALX4-R35T | homozygous | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | CPN2-Q509W | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | ABCC2-Y39F | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ABCC2-V417I | homozygous | 0.192 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 1 | KRTAP7-1-I61S | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-S51P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-Y17Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | KIAA1210-R405H | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 1 | KIAA1210-G103V | homozygous | 0.925 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | AX746903-T82Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | AX746903-Q107R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | AX746903-Q107R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | INSR-A2G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | KCNH2-K897T | homozygous | 0.169 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | PIK3R6-L609Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | MTHFR-R594Q | het unknown | 0.040 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | MTHFR-E429A | het unknown | 0.255 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.099 (benign), Testable gene in GeneTests |
| 1 | MTHFR-A222V | het unknown | 0.272 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests |
| 1 | MSR1-P275A | homozygous | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 1 | DBH-A318S | homozygous | 0.093 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | NCRNA00255-P39Shift | homozygous | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | HRNR-S799T | homozygous | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-R664Q | homozygous | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-G492R | homozygous | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-E473G | homozygous | 0.950 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-Q376R | homozygous | 0.950 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-H273Q | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-R85H | homozygous | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.078 (benign) |
| 1 | HRNR-M1Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | GSTM1-K126E | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | GSTM1-S210T | homozygous | 0.589 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | HADHB-T2TT | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | DGKK-L1014Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SLC38A5-M451T | homozygous | 0.060 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 1 | GFI1-S36N | homozygous | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | SEBOX-L207S | het unknown | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SEBOX-W10Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | MST1P9-A271Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | MST1P9-S152G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ELAC2-S217L | het unknown | 0.273 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.025 (benign), Testable gene in GeneTests |
| 1 | NEFL-S472Shift | homozygous | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 1 | PLXNA3-R350Q | homozygous | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.604 (possibly damaging) |
| 1 | F5-M1764V | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-K925E | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-H865R | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-K858R | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-Q534R | homozygous | 0.978 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-M413T | het unknown | 0.058 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | VSIG10L-Q860Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | VSIG10L-R592Q | homozygous | 0.563 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | VSIG10L-M356I | homozygous | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | VSIG10L-N3T | homozygous | 0.605 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF167-N494Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CROCC-R7G | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CROCC-R274L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | CROCC-R372Q | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.528 (possibly damaging) |
| 1 | CROCC-A439V | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 1 | CROCC-N481K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | CROCC-D586H | het unknown | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.991 (probably damaging) |
| 1 | CROCC-R918W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | CROCC-E1037Q | homozygous | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.891 (probably damaging) |
| 1 | CROCC-R1049H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | CROCC-L1117E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | BC112980-K147Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | VCAN-K349E | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | VCAN-G428D | het unknown | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | VCAN-K1516R | het unknown | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | VCAN-R1826H | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | VCAN-F2301Y | het unknown | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | VCAN-D2937Y | het unknown | 0.388 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | ZNF761-L47Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF761-I122S | homozygous | 0.686 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF761-V168I | homozygous | 0.770 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HLA-DQA1-L8M | het unknown | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-C34Y | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Q57E | homozygous | 0.265 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-A68V | het unknown | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-R70Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-W71L | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-E73L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-S75R | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-K76R | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-G78R | het unknown | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-G79R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-G84F | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-R87T | het unknown | 0.259 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-M89I | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-A92L | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-M99V | het unknown | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-Y103S | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Q152H | het unknown | 0.407 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Q198E | het unknown | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-M230V | homozygous | 0.700 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-F238L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-Q241R | het unknown | 0.421 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ATP7A-V767L | homozygous | 0.254 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ATP7A-E1350K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ZNF480-C3Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | PLEKHA2-P389Shift | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.875 | MTRR-I49M | het unknown | 0.451 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.875 | MTRR-S202L | homozygous | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | AKAP10-I646V | het unknown | 0.452 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | AKAP10-R249H | het unknown | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | CILP-G1166S | homozygous | 0.734 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | CILP-Q979R | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | CILP-K575E | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | CILP-I395T | het unknown | 0.632 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | AURKA-I57V | het unknown | 0.836 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | AURKA-F31I | het unknown | 0.188 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | BANK1-R61H | het unknown | 0.283 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | BANK1-C650R | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.625 | LRRC50-K393R | homozygous | 0.378 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.625 | LRRC50-G505Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0.625 | LRRC50-L633S | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | LRRC50-L659V | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.625 | LRRC50-L659P | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SPG7-T503A | het unknown | 0.142 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SPG7-R688Q | het unknown | 0.142 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CTNS-T260I | homozygous | 0.828 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEURL4-R1406H | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.912 (probably damaging) |
| 0.5 | NEURL4-R1372Q | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.115 (benign) |
| 0.5 | TAF1C-G541S | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | TAF1C-C24Y | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | COX10-R159Q | homozygous | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COX10-V366L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | OR1E1-A143T | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CETP-V422I | homozygous | 0.589 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PLCG2-H244R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | PLCG2-R268W | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.95 (probably damaging) |
| 0.5 | SLC28A1-D521N | homozygous | 0.360 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABAT-Q56R | homozygous | 0.514 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | BBS4-I354T | homozygous | 0.529 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HEXA-I436V | homozygous | 0.867 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GLCE-M65V | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | GLCE-V597I | het unknown | 0.666 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.5 | MYH11-A1241T | homozygous | 0.207 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-R1268Q | het unknown | 0.219 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-H632Q | het unknown | 0.448 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-V614A | het unknown | 0.458 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TK2-P33A | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TK2-K30R | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TK2-VV23LF | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | GCSH-S21L | homozygous | 0.751 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CEP152-S54L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SALL1-V1275I | homozygous | 0.988 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OTOA-F15Y | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CD19-L174V | homozygous | 0.768 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NOD2-P268S | homozygous | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ATP8B1-A1152T | homozygous | 0.999 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RAI1-G90A | het unknown | 0.415 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RAI1-P165T | het unknown | 0.339 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ETFB-T245M | het unknown | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ETFB-P52L | het unknown | 0.061 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SIGLEC12-R528W | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.9 (probably damaging) |
| 0.5 | SIGLEC12-Y494S | het unknown | 0.888 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SIGLEC12-T478M | het unknown | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | SIGLEC12-H398Y | het unknown | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.069 (benign) |
| 0.5 | SIGLEC12-H217Q | het unknown | 0.885 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 0.5 | SIGLEC12-A82V | het unknown | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SIGLEC12-A66Shift | het unknown | 0.867 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | FPR1-E346A | homozygous | 0.799 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-N192K | homozygous | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-I11T | homozygous | 0.773 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NAPSA-A310T | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | DHDH-E294Shift | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | DHDH-L296Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ZNF224-M118V | homozygous | 0.872 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF224-H162L | homozygous | 0.879 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging) |
| 0.5 | ZNF224-K640E | homozygous | 0.713 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BCAM-T539A | het unknown | 0.329 | Unknown benign | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | BCAM-Q581L | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.79 (possibly damaging), Testable gene in GeneTests |
| 0.5 | PEX10-T274A | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.221 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF880-N106Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ZNF880-N140NN | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ZNF880-R198S | het unknown | 0.358 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF880-N202H | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF880-K471R | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LAIR2-R76* | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | LAIR2-H112Q | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | CYP1B1-V432L | het unknown | 0.445 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LHCGR-N312S | homozygous | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GKN2-D65Y | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | SULT6B1-R143S | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SULT6B1-K50E | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SULT6B1-V37D | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SULT6B1-A23T | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ALK-D1529E | het unknown | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-I1461V | homozygous | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZIM3-K438* | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | ZIM3-I379V | het unknown | 0.456 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.651 (possibly damaging) |
| 0.5 | ZIM3-N157D | het unknown | 0.669 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZIM3-L69M | het unknown | 0.454 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.05 (benign) |
| 0.5 | TPO-A257S | homozygous | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TPO-S398T | het unknown | 0.785 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests |
| 0.5 | TPO-T725P | homozygous | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AX746649-Q132* | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | C2orf71-S1225SS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | C2orf71-L792V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | CYP2B6-Q172H | het unknown | 0.292 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
| 0.5 | CYP2B6-K262R | het unknown | 0.043 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | DLL3-L218P | homozygous | 0.593 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PNPO-R116Q | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.953 (probably damaging), Testable gene in GeneTests |
| 0.5 | COL1A1-T1075A | homozygous | 0.971 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN4A-N1376D | het unknown | 0.602 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN4A-S524G | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MAPT-Y441H | homozygous | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC4A1-D38A | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MAP2K3-P40T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | MAP2K3-R55T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MAP2K3-S68P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.029 (benign) |
| 0.5 | MAP2K3-R94L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | MAP2K3-R96W | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | MAP2K3-Q102* | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | MAP2K3-L215W | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | MAP2K3-R293H | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.338 (possibly damaging) |
| 0.5 | MAP2K3-V339M | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.815 (possibly damaging) |
| 0.5 | JUP-M697L | homozygous | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DHX58-Q425R | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DHX58-R95Q | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.296 (possibly damaging) |
| 0.5 | APOH-V266L | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | APOH-S107N | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | DNAI2-A558T | homozygous | 0.767 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FAM125A-D249N | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | ZNF792-N425D | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | ZNF792-R177Q | het unknown | 0.599 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HKR1-V526I | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | HKR1-T628I | homozygous | 0.217 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ADAMTS10-H1101Q | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF271-S231Shift | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ITGB4-R515H | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CARD14-R682W | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | LAMA1-T2611A | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | LAMA1-I2076T | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LAMA1-K2002E | het unknown | 0.657 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LAMA1-M1340V | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.942 (probably damaging) |
| 0.5 | LAMA1-A886V | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.936 (probably damaging) |
| 0.5 | LAMA1-N674T | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.167 (benign) |
| 0.5 | LAMA3-S2834G | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | JPH4-A502Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | FBN1-C472Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-G488A | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-N1349D | homozygous | 0.813 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-A1572T | homozygous | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-R1801Q | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-E2041K | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-R2355Q | het unknown | 0.255 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-P2377L | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDHR1-H53Q | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.864 (probably damaging) |
| 0.5 | BMPR1A-P2T | homozygous | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYOF-D342N | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SLC29A3-S158F | het unknown | 0.618 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC29A3-V239I | homozygous | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC29A3-I326V | homozygous | 0.893 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AIFM2-G2V | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | PTF1A-S263P | homozygous | 0.507 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests |
| 0.5 | PTCHD3-*768Q | het unknown | 0.630 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-I584M | homozygous | 0.960 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-M521T | het unknown | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-D473G | het unknown | 0.630 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.849 (possibly damaging) |
| 0.5 | PTCHD3-C407G | het unknown | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PTCHD3-S309Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | PTCHD3-L152P | het unknown | 0.267 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | PPYR1-A99S | het unknown | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.03 (benign) |
| 0.5 | PPYR1-V276M | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.889 (probably damaging) |
| 0.5 | CHAT-A120T | het unknown | 0.184 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CHAT-V461M | homozygous | 0.961 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLCE1-S469T | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
| 0.5 | PLCE1-R1575P | homozygous | 0.476 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PLCE1-T1777I | het unknown | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PLCE1-H1927R | homozygous | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.5 | SCD-M224L | homozygous | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MADD-R765Q | het unknown | 0.082 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MADD-R766* | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Nonsense mutation, Testable gene in GeneTests |
| 0.5 | MS4A14-I56Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | MS4A14-N177Y | het unknown | 0.640 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | MS4A14-G584R | het unknown | 0.574 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | MS4A14-P676S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | MS4A5-G51E | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | CD6-P105L | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CD6-A257V | het unknown | 0.552 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CD6-A271T | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | CD6-T539A | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | EHF-A96V | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | SLC6A5-G102S | het unknown | 0.369 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-F124S | homozygous | 0.799 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-A162G | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-D1370G | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-M703V | het unknown | 0.715 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-G428S | homozygous | 0.845 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-T210M | het unknown | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | H19-G355R | homozygous | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | H19-V94I | homozygous | 0.361 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SBF2-E679K | het unknown | 0.077 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC8-A1369S | homozygous | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MRVI1-P186S | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | MRVI1-A70T | homozygous | 0.965 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MRVI1-I11V | homozygous | 0.772 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CUBN-E3002G | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-I2984V | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-S2717W | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-C2162Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-L2153F | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-P1559S | homozygous | 0.743 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-F253S | homozygous | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | OPTN-K322E | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COL11A1-S1547P | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A1-P1335L | homozygous | 0.448 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PTPN22-W620R | homozygous | 0.934 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPAG17-P1348L | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | SPAG17-E158V | het unknown | 0.147 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | SPAG17-R143Q | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | FLG-Y3105D | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DBT-S384G | homozygous | 0.858 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | POMGNT1-M623V | homozygous | 0.940 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | H6PD-D151A | het unknown | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.292 (possibly damaging) |
| 0.5 | H6PD-R453Q | het unknown | 0.309 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | HSPG2-R3632Q | het unknown | 0.112 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-S2995G | het unknown | 0.115 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-G2225S | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-V1967I | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-N765S | homozygous | 0.933 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-M638V | homozygous | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FUCA1-P10R | het unknown | 0.067 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.894 (probably damaging), Testable gene in GeneTests |
| 0.5 | DEM1-L151P | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.948 (probably damaging) |
| 0.5 | SEPN1-C108Y | homozygous | 0.788 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SEPN1-N467K | homozygous | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CD244-G287A | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | FCGR3A-F212V | homozygous | 0.285 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FCGR3A-Y194H | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | LBR-S154N | homozygous | 0.704 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EPHX1-H139R | homozygous | 0.248 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | EDARADD-M9I | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ANKRD16-Q353R | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.5 | ANKRD16-A128G | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | ANKRD16-G30R | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | USH2A-E3411A | het unknown | 0.573 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-I2169T | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-I2106T | homozygous | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-R1486K | homozygous | 0.607 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-A125T | homozygous | 0.719 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PHLDA3-R28Q | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.852 (probably damaging) |
| 0.5 | CEP350-R892T | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.987 (probably damaging) |
| 0.5 | CEP350-G1213V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CEP350-A1387P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CEP350-T1446A | het unknown | 0.077 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.197 (benign) |
| 0.5 | RNASEL-D541E | homozygous | 0.475 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LAMC2-R337Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | LAMC2-S733T | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CACNA1S-R1539C | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CACNA1S-L458H | het unknown | 0.273 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-L2647I | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-S2562G | het unknown | 0.317 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-Y2494H | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AHNAK-V5440M | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.813 (possibly damaging) |
| 0.5 | AHNAK-Q3003K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AHNAK-G2527D | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | ROM1-G118A | homozygous | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests |
| 0.5 | MCEE-A76V | homozygous | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DHRS4L1-R5G | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DHRS4L1-R122Shift | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | PCK2-Q121P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-M1969T | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2284V | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-S2359N | homozygous | 0.769 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2395T | homozygous | 0.880 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-S2802G | homozygous | 0.914 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-I2942V | homozygous | 0.723 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-D3253H | homozygous | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-H3309R | homozygous | 0.742 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | ACIN1-S647SRS | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ACIN1-S467P | homozygous | 0.448 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | ACIN1-A447P | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ACIN1-I311M | homozygous | 0.497 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ACIN1-N20S | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | RPGRIP1-K192E | homozygous | 0.483 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1-A547S | het unknown | 0.232 | Complex/Other benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1-E1033Q | homozygous | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FNDC3A-T1017A | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | CLN5-K368R | homozygous | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | UGGT2-H1381R | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | UGGT2-M994L | het unknown | 0.368 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.903 (probably damaging) |
| 0.5 | UGGT2-A821T | het unknown | 0.150 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.042 (benign) |
| 0.5 | UGGT2-S328A | homozygous | 0.854 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UGGT2-A323T | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NR_028064-H41Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | MTHFD1-K134R | homozygous | 0.831 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MTHFD1-R653Q | homozygous | 0.376 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) |
| 0.5 | ZFYVE26-N1891S | homozygous | 0.942 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZFYVE26-C1871Y | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZFYVE26-C1457Y | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.5 | ZFYVE26-S615F | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests |
| 0.5 | TP53BP1-V1031A | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | STRC-Q84R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DUOX2-S1067L | homozygous | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DUOX2-P138L | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC28A2-P22L | homozygous | 0.474 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC28A2-S75R | homozygous | 0.497 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TJP1-G1169C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | TJP1-I790V | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
| 0.5 | OCA2-R419Q | het unknown | 0.057 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SIPA1L1-P56T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.679 (possibly damaging) |
| 0.5 | MLH3-P844L | het unknown | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MLH3-N826D | homozygous | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSHR-E727D | homozygous | 0.920 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SERPINA9-V348A | het unknown | 0.719 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SERPINA9-R310I | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SERPINA9-H254Q | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SERPINA9-P236L | het unknown | 0.252 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SERPINA9-T57I | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SERPINA9-A42V | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | GALC-T641A | homozygous | 0.959 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-I562T | het unknown | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SUCLA2-S199T | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FREM2-S745P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FREM2-T2326I | homozygous | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | WNK1-T1056P | het unknown | 0.850 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-C1506S | homozygous | 0.985 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-D1472H | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-T1381A | homozygous | 0.712 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-Q852R | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-H484R | homozygous | 0.503 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ACSM4-T251I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ACSM4-Q357* | het unknown | 0.060 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | CLECL1-S52Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | KCNJ1-M357T | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.324 (possibly damaging), Testable gene in GeneTests |
| 0.5 | CD3G-V131F | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.773 (possibly damaging), Testable gene in GeneTests |
| 0.5 | MEN1-T546A | homozygous | 0.908 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MEN1-SI15YT | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TMEM126B-A168V | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | TYR-S192Y | het unknown | 0.271 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATM-D1853N | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATM-N1983S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KIAA1377-G238C | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIAA1377-S275Y | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | KIAA1377-I281T | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.05 (benign) |
| 0.5 | KIAA1377-A302T | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign) |
| 0.5 | KIAA1377-S1077N | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLCO1B3-S112A | homozygous | 0.718 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLCO1B3-M233I | homozygous | 0.718 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.131 (benign) |
| 0.5 | GYS2-M363V | homozygous | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KNTC1-H748R | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.966 (probably damaging) |
| 0.5 | SGCG-N287S | homozygous | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CENPJ-M21V | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CSNK1A1L-R170S | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.9 (probably damaging) |
| 0.5 | CSNK1A1L-D42E | het unknown | 0.514 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HPD-T33A | homozygous | 0.902 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SH2B3-W262R | homozygous | 0.634 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIF21A-G614V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-R50H | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-S1647T | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-M2397T | het unknown | 0.614 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VDR-M1T | het unknown | 0.676 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.5 | UTP20-M120T | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | UTP20-L1882Q | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KRT4-N257S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | KRT4-G160GAGGFGAGFGTGGFG | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EMP3-I125V | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.878 (probably damaging) |
| 0.5 | ALG3-I107V | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GM2A-I59V | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GM2A-M69V | homozygous | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MSX2-M129T | homozygous | 0.753 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PROP1-N20S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GRM6-Q59P | homozygous | 0.616 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC26A2-I574T | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADRB2-E27Q | het unknown | 0.661 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | IL13-Q144R | homozygous | 0.811 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AX746964-G175Shift | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | AX746964-K166I | het unknown | 0.628 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PCDHB16-R202Q | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | PCDHB16-V347L | het unknown | 0.196 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PCDHB16-T482I | het unknown | 0.160 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | PCDHB16-A508T | het unknown | 0.168 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PCDHB16-R525Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PCDHB16-E526A | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PCDHB16-R652C | het unknown | 0.154 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.02 (benign) |
| 0.5 | PCDHB16-A710V | het unknown | 0.160 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SPINK5-Q267R | homozygous | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-A335V | homozygous | 0.440 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-S368N | homozygous | 0.428 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-K420E | homozygous | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-R711Q | homozygous | 0.545 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZNF354C-Y524C | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.979 (probably damaging) |
| 0.5 | ZNF354C-F546L | homozygous | 0.688 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF354C-E553K | homozygous | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.057 (benign) |
| 0.5 | FLT4-R1324L | het unknown | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRPH2-D338G | het unknown | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRPH2-R310K | homozygous | 0.931 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRPH2-Q304E | het unknown | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PEX6-P939Q | homozygous | 0.430 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CUL7-Q813R | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MUT-I671V | homozygous | 0.608 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MUT-A499T | het unknown | 0.105 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A2-P894L | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-G2518E | homozygous | 0.685 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-R2487G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TNXB-H1161R | het unknown | 0.477 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-T302A | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PAK1IP1-G124R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | ZNF204P-W209* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | ZNF204P-E93Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ZNF204P-K6Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | HLA-H-Q61R | homozygous | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-V92L | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-R100C | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-L145R | homozygous | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-A147V | homozygous | 0.278 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-SP182WS | het unknown | 0.137 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-SP182WS | het unknown | 0.137 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-C238S | homozygous | 0.729 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HSPA1L-E602K | het unknown | 0.237 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HSPA1L-T493M | homozygous | 0.873 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | MDC1-R1883Q | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | ALMS1-S524SP | homozygous | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-V671G | homozygous | 0.881 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-R4029K | homozygous | 0.540 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR_027706-G126Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CXCL10-R29C | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | FAM175A-A348T | het unknown | 0.324 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.16 (benign) |
| 0.5 | FAM175A-T141I | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | ABCG2-Q141K | het unknown | 0.082 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.548 (possibly damaging) |
| 0.5 | ADH1B-H48R | homozygous | 0.963 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UGT2B11-P358S | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | UGT2B7-Y268H | homozygous | 0.207 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | OPA1-S158N | homozygous | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | EVC-Q74P | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 0.5 | EVC-Y258H | het unknown | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 0.5 | EVC-T449K | homozygous | 0.852 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EVC-R576Q | het unknown | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.5 | TLR6-S249P | homozygous | 0.695 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PAICS-S148C | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CNGA1-S3F | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | TET2-P363L | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.917 (probably damaging) |
| 0.5 | TET2-L1721W | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.032 (benign) |
| 0.5 | HADH-L86P | homozygous | 0.847 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HEXB-L62S | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IQGAP2-V455A | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | IQGAP2-D527E | homozygous | 0.947 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | IQGAP2-K532E | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | IQGAP2-L629F | het unknown | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | IQGAP2-I724V | het unknown | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AP3B1-V585E | homozygous | 0.932 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-L1093F | homozygous | 0.731 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V1951I | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N1985D | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-P1987L | het unknown | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-L2004F | het unknown | 0.234 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.841 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-Y2232C | het unknown | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N2345S | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N2584S | homozygous | 0.735 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-S2764L | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-G3248D | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E3471K | het unknown | 0.758 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-M3526T | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E5344G | homozygous | 0.937 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V5427M | homozygous | 0.972 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V5876I | het unknown | 0.432 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | IL7R-I66T | homozygous | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IL7R-V138I | homozygous | 0.745 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IL7R-I356V | het unknown | 0.294 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AMACR-E277K | homozygous | 0.756 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AMACR-L201S | homozygous | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CFI-T300A | homozygous | 0.965 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ANK2-V2369A | het unknown | 0.143 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | ANK2-S3300R | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AGA-T149S | homozygous | 0.923 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DNAH5-I4450V | het unknown | 0.528 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-Q2463R | het unknown | 0.204 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-T558A | het unknown | 0.330 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-H12Q | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TLR3-L412F | homozygous | 0.213 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | PKHD1-Q4048R | homozygous | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-Q3899R | homozygous | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-L1870V | homozygous | 0.952 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LCA5-D26A | het unknown | 0.149 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LCA5-L24S | homozygous | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CNGB3-T298P | homozygous | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CNGB3-C234W | homozygous | 0.880 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DOCK8-P97T | homozygous | 0.465 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests |
| 0.5 | DENND4C-I5L | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.956 (probably damaging) |
| 0.5 | AK300656-R11* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | PEX2-C184R | homozygous | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZFHX4-I2036V | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.077 (benign) |
| 0.5 | ZFHX4-V3033G | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.889 (probably damaging) |
| 0.5 | PCM1-N159S | het unknown | 0.815 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PCM1-M597V | het unknown | 0.817 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | PCM1-R1251H | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | ASAH1-V246A | homozygous | 0.867 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ASAH1-I93V | homozygous | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ASAH1-V72M | homozygous | 0.424 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NAT2-R268K | homozygous | 0.581 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CHRNA2-T125A | homozygous | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LPL-S474* | het unknown | 0.084 | Unknown protective | Insufficiently evaluated | Prioritization score: 4 Nonsense mutation, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ROR2-V819I | homozygous | 0.704 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCA1-K1587R | homozygous | 0.582 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCA1-R219K | het unknown | 0.393 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DMD-R2937Q | homozygous | 0.957 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-D882G | homozygous | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC16A2-S107P | homozygous | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATRX-Q929E | homozygous | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HTR2C-C23S | homozygous | 0.233 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | KAL1-V534I | homozygous | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ARSE-G424S | homozygous | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-V783A | het unknown | 0.412 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-H752Q | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-M613T | het unknown | 0.492 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-R364H | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDK5RAP2-V1540L | homozygous | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDK5RAP2-E289Q | homozygous | 0.849 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | POMT1-V305I | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TSC1-M322T | homozygous | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-I1386V | homozygous | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-G1252R | homozygous | 0.690 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-D1192E | homozygous | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MTUS1-S267P | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | MTUS1-C148R | homozygous | 0.730 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | MCPH1-R171S | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D314H | homozygous | 0.681 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D392G | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-E34L | het unknown | 0.368 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T400I | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-A568T | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-V1023A | het unknown | 0.350 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T1038A | homozygous | 0.816 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-D1640G | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-V2525I | het unknown | Recessive not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | DNAH11-N2641S | het unknown | 0.529 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-V3715L | het unknown | 0.603 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-M4172V | het unknown | 0.718 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNA5-V207M | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.715 (possibly damaging), Testable gene in GeneTests |
| 0.5 | DFNA5-P142T | het unknown | 0.166 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.292 (possibly damaging), Testable gene in GeneTests |
| 0.5 | HOXA1-R73H | homozygous | 0.728 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRR15-P115S | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.5 | PRR15-P124H | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | SLC22A2-S270A | homozygous | 0.881 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SOD2-V16A | homozygous | 0.476 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RARS2-V235M | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | BACH2-L291V | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | AIM1-E1196A | homozygous | 0.930 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 0.5 | AIM1-L1235P | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.919 (probably damaging) |
| 0.5 | SYNE1-L8741M | het unknown | 0.104 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-F7302V | het unknown | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-L5015M | het unknown | 0.808 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-S4596T | het unknown | 0.793 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-K4121R | het unknown | 0.784 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-E4060D | homozygous | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-V1035A | het unknown | 0.534 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RSPH4A-V497I | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RSPH4A-L589P | homozygous | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GARS-P42A | homozygous | 0.744 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GLI3-T183A | homozygous | 0.666 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR37-T589M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | NR_002144-DDDFE68Del | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_002144-SE75P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_002144-L77Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NR_002144-V227M | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NR_002144-Q280R | het unknown | 0.858 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NR_002144-Y307H | het unknown | 0.858 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NR_002144-L312R | het unknown | 0.856 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CLCN1-G118W | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLCN1-P727L | homozygous | 0.424 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYOM2-A219V | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MYOM2-T304M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MYOM2-S523N | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | MYOM2-N869S | homozygous | 0.437 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BC032716-Y42Shift | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ZKSCAN1-P201A | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | DDC-M17V | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AKAP9-M463I | het unknown | 0.442 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AKAP9-R1276Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | AKAP9-K1335KQ | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | AKAP9-N2792S | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AKAP9-P2979S | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COL1A2-P549A | homozygous | 0.798 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP3A43-M275I | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | CYP3A7-R409T | homozygous | 0.762 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ALDH7A1-K439Q | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GBE1-I334V | homozygous | 0.980 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CPS1-T1406N | homozygous | 0.329 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SMCR7L-R169W | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ABCA12-S777T | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATIC-T116S | homozygous | 0.248 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | TRIOBP-S217N | homozygous | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests |
| 0.5 | CTLA4-T17A | homozygous | 0.371 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | TTLL3-M502R | homozygous | 0.653 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TTLL3-R561* | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | NCKIPSD-P551S | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | TTN-I23649T | het unknown | 0.224 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-T23113N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-A19840P | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-R19629K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-R9852H | het unknown | 0.224 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-G9378R | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-S3419N | homozygous | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-V3261M | homozygous | 0.893 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-S1295L | homozygous | 0.950 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-K1201E | homozygous | 0.731 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-T811I | het unknown | 0.186 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLXNB1-P435S | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.942 (probably damaging) |
| 0.5 | COL3A1-A698T | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL3A1-H1353Q | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC22A14-L238Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | SLC22A14-V284M | homozygous | 0.866 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC22A14-S292G | homozygous | 0.873 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC22A14-V391I | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC22A14-P560R | het unknown | 0.279 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ULK4-V1126A | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | ULK4-S640A | homozygous | 0.881 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ULK4-A542T | homozygous | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ULK4-I224V | homozygous | 0.676 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ULK4-K39R | homozygous | 0.679 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.031 (benign) |
| 0.5 | OBSL1-EV1744GG | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | OBSL1-Q1578R | homozygous | 0.962 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-E1365D | homozygous | 0.702 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-R723K | homozygous | 0.827 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-L141P | homozygous | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-E162G | homozygous | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-E269K | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-D326Y | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC19A1-H27R | homozygous | 0.504 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | SALL4-L507R | het unknown | 0.281 | Dominant not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | EIF2B5-I587V | homozygous | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | UMODL1-N274H | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.025 (benign) |
| 0.5 | UMODL1-R447Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.991 (probably damaging) | |
| 0.5 | UMODL1-R447Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.991 (probably damaging) | |
| 0.5 | UMODL1-M559T | het unknown | 0.757 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | UMODL1-Q665* | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | UMODL1-T741P | het unknown | 0.422 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UMODL1-I767T | homozygous | 0.771 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KCNE1-S38G | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCK1-V184L | homozygous | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCK1-E276K | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | BPIL1-D359H | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.924 (probably damaging) |
| 0.5 | PRODH-R521Q | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COL6A3-T3069I | homozygous | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-A3012P | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-M2927T | homozygous | 0.700 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CSF2RB-P603T | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | DEFB126-Q55Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | DEFB126-P106Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | HPS4-Q620H | homozygous | 0.868 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-H601Y | homozygous | 0.868 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-V547M | homozygous | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-L438V | het unknown | 0.375 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-E224G | homozygous | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GGT1-G84S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
| 0.5 | MKKS-G532V | homozygous | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MKKS-R517C | homozygous | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | XPC-Q939K | homozygous | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALNT5-D678A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | NEB-I6534V | het unknown | 0.422 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-A6277P | homozygous | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-R4389T | homozygous | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-V4120I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | NEB-W3348C | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-S2912P | het unknown | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-V1491M | het unknown | 0.660 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-Y1301H | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K1027N | het unknown | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN2A-R19K | het unknown | 0.058 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests |
| 0.5 | LCT-N1639S | homozygous | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LCT-I362V | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CCDC39-T182S | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | KIAA2018-V2200A | homozygous | 0.999 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIAA2018-S1818G | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | LRP2-I4210L | homozygous | 0.602 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | LRP2-K4094E | homozygous | 0.799 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | LRP2-N2632D | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.168 (benign) |
| 0.5 | LRP2-G669D | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | LRP2-G259R | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HGD-Q80H | homozygous | 0.745 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | EIF2AK3-A704S | homozygous | 0.802 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EIF2AK3-R240H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | EIF2AK3-Q166R | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HTR3E-E22Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | HTR3E-A86T | het unknown | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ARL13B-T348S | het unknown | 0.087 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MOGS-V673I | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.024 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC41A3-L501Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | SLC41A3-T62A | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LY75-K1347R | homozygous | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.895 (probably damaging) |
| 0.5 | LY75-K1321N | homozygous | 0.849 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LY75-P1247L | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | LY75-D807E | homozygous | 0.422 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LY75-E268D | het unknown | 0.195 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.018 (benign) |
| 0.375 | LAMA2-R619H | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | LAMA2-R826W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | LAMA2-A2585V | het unknown | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | KRT6C-I493V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | KRT6C-V481I | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | HMCN1-N1529S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | HMCN1-I2418T | homozygous | 0.525 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests |
| 0.375 | HMCN1-E2893G | het unknown | 0.554 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests |
| 0.375 | APC-V1822D | het unknown | 0.826 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | APC-S2621C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.25 | SMPD1-G508R | het unknown | 0.200 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BDNF-V148M | het unknown | 0.138 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PANK2-G126A | het unknown | 0.940 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NOTCH3-A2223V | het unknown | 0.730 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PLOD1-A99T | het unknown | 0.282 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ANXA11-R230C | het unknown | 0.341 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.25 | PRX-G1132R | het unknown | 0.955 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PRX-V882A | het unknown | 0.609 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ERCC6-G399D | het unknown | 0.161 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | OR8U8-A51T | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | OR8U8-T53E | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OR8U8-S54K | het unknown | 0.275 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OR8U8-V91Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | OR8U8-I109V | het unknown | 0.105 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OR8U8-S112C | het unknown | 0.460 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OR8U8-L131M | het unknown | 0.403 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OR8U8-T137S | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | OR8U8-F153I | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | OR8U8-M155V | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.25 | OR8U8-F200L | het unknown | 0.387 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.25 | OR8U8-M206T | het unknown | 0.286 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.25 | OR8U8-S209C | het unknown | 0.290 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OR8U8-L211V | het unknown | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OR8U8-H229S | het unknown | 0.063 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OR8U8-G242S | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OR8U8-A267S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | OR8U8-T270A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | OR8U8-Q293R | het unknown | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | EYA4-G277S | het unknown | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ZNF317-Q19H | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.25 | ZNF317-Q19H | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.25 | RAG1-H249R | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | RAG1-D887N | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.019 (benign), Testable gene in GeneTests |
| 0.25 | NPHS1-E117K | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 0.25 | CCM2-V120I | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ADRB1-G389R | het unknown | 0.681 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ARMS2-R38* | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Nonsense mutation, Testable gene in GeneTests |
| 0.25 | ACADSB-R13K | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.08 (benign), Testable gene in GeneTests |
| 0.25 | MMP9-Q279R | het unknown | 0.346 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MMP9-R574P | homozygous | 0.918 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MMP9-R668Q | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC7A9-L223M | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.25 | SLC7A9-V142A | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FSHR-S680N | het unknown | 0.556 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FSHR-A307T | het unknown | 0.451 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ABCG8-V632A | het unknown | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PRODH2-P91R | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests |
| 0.25 | PARK2-V380L | het unknown | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GLI2-A1156S | het unknown | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GLI2-D1306N | het unknown | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TXNDC3-R43K | het unknown | 0.286 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TXNDC3-I338T | het unknown | 0.038 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | STIL-H985R | het unknown | 0.279 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | STIL-A86V | het unknown | 0.595 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CFTR-V470M | het unknown | 0.607 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ITGA6-A380T | het unknown | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NLRP7-A481T | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | FMO3-E158K | het unknown | 0.429 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FMO3-V257M | het unknown | 0.057 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FMO3-E308G | het unknown | 0.137 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FMO2-D36G | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FMO2-S195L | het unknown | 0.384 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GGH-A31T | het unknown | 0.210 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GGH-C6R | het unknown | 0.228 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LHX4-N328S | het unknown | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SCN1A-A1056T | het unknown | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NEUROD1-T45A | het unknown | 0.672 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | NBN-E185Q | het unknown | 0.285 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NGF-A35V | het unknown | 0.370 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.123 (benign), Testable gene in GeneTests |
| 0.25 | VANGL1-A116T | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.25 | NOTCH2-P210L | het unknown | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NOTCH2-C19W | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TG-D1312G | het unknown | 0.456 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TG-D1838N | het unknown | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
| 0.25 | TG-R1999W | homozygous | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TG-W2501R | homozygous | 0.614 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.031 (benign), Testable gene in GeneTests |
| 0.25 | TG-R2530Q | het unknown | 0.572 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.25 | GBA-K144R | het unknown | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GBA-R140W | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IL6R-D358A | het unknown | 0.316 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.911 (probably damaging) |
| 0.25 | TMEM67-I604V | het unknown | 0.638 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BAAT-R201P | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | BAAT-R20Q | het unknown | 0.627 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests |
| 0.25 | RP1-R872H | het unknown | 0.235 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | RP1-A1670T | het unknown | 0.204 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | RP1-S1691P | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | LEPR-Q223R | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests |
| 0.25 | LEPR-K656N | het unknown | 0.176 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.454 (possibly damaging), Testable gene in GeneTests |
| 0.25 | CTH-S403I | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ALG6-S306F | het unknown | 0.738 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GCKR-L446P | het unknown | 0.679 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | C2orf83-W141* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | C2orf83-E104Q | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ATP6V0A4-V2A | het unknown | 0.735 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CPT2-V368I | het unknown | 0.456 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CPT2-M647V | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | AGT-M268T | het unknown | 0.561 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MUSK-S159G | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | AOX1-N1135S | het unknown | 0.174 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CFH-H402Y | het unknown | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NCF2-K181R | het unknown | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CASP10-L522I | het unknown | 0.439 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CASP8-K14R | het unknown | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ALS2-V368M | het unknown | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LAMB3-M852L | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | OTOF-R82C | het unknown | 0.365 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | LMBRD1-D469E | het unknown | 0.313 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FANCD2-P714L | het unknown | 0.142 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SPATA7-D2N | het unknown | 0.290 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT14-A94T | het unknown | 0.440 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT14-C63Y | het unknown | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FLNB-D1157N | het unknown | 0.303 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FLNB-V1471M | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SERPINA1-E400D | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SERPINA1-V237A | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT10-G565GGYGGGSSSGG | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | KRT10-H487Y | het unknown | 0.841 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | KRT10-I101S | homozygous | 0.999 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TTBK2-L8P | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDAN1-R891C | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDAN1-Q596R | het unknown | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDAN1-Q107L | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATXN7-V862M | het unknown | 0.394 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SUZ12-AAAGAAV62Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | SUZ12-P74S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | SUZ12-R101* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | ARSB-V358M | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.117 (benign), Testable gene in GeneTests |
| 0.25 | WDR36-I264V | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SRA1-V110RL | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TEP1-I2486M | het unknown | 0.287 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TEP1-V2214I | het unknown | 0.276 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TEP1-S116P | het unknown | 0.385 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SERPING1-V480M | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.25 | ITGB3-L59P | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.02 (benign), Testable gene in GeneTests |
| 0.25 | FBN2-V965I | het unknown | 0.665 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HSD17B4-R106H | het unknown | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests |
| 0.25 | HSD17B4-W511R | het unknown | 0.154 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests |
| 0.25 | HSD17B4-I559V | homozygous | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.111 (benign), Testable gene in GeneTests |
| 0.25 | PAX9-A240P | het unknown | 0.311 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | COCH-T352S | het unknown | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | C14orf23-K115Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | C14orf23-K116Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Frameshift | |
| 0.25 | C14orf23-K116Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Frameshift | |
| 0.25 | MYO15A-C1977R | het unknown | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYO15A-Y2682F | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FGB-R478K | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PLD1-A622S | het unknown | 0.179 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FANCA-T266A | het unknown | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC2A2-T110I | het unknown | 0.240 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SLC2A9-P350L | het unknown | 0.378 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SLC2A9-R294H | het unknown | 0.149 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.25 | SLC2A9-G25R | het unknown | 0.429 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | WFS1-V333I | het unknown | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | WFS1-R611H | het unknown | 0.400 | Recessive not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | DHODH-K7Q | het unknown | 0.542 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.25 | TAT-P15S | het unknown | 0.175 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.25 | NQO1-P187S | het unknown | 0.197 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.215 (possibly damaging) |
| 0.25 | GPR56-S281R | het unknown | 0.609 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | UMPS-G213A | het unknown | 0.165 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MPDU1-A229T | het unknown | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CPOX-N272H | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.037 (benign), Testable gene in GeneTests |
| 0.25 | LRRC48-R191W | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LRRC48-L440Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | NR3C2-V180I | het unknown | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DRD3-G9S | het unknown | 0.533 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MANBA-T701M | het unknown | 0.552 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MANBA-V253I | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.25 | FANCI-A86V | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FANCI-C742S | het unknown | 0.287 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CASR-E1011Q | het unknown | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ADAMTSL3-H146R | het unknown | 0.564 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.25 | ADAMTSL3-L290V | het unknown | 0.849 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ADAMTSL3-V661L | het unknown | 0.620 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ADAMTSL3-T1660I | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | TMC3-D1098N | homozygous | 0.872 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TMC3-S1044* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | TMC3-C892Y | homozygous | 0.620 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RNF43-L418M | homozygous | 0.371 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.06 (benign) |
| 0.25 | RNF43-R343H | het unknown | 0.116 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.25 | RNF43-I47V | het unknown | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | MICA-Y59C | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-V152M | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-E196K | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-S229G | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-R233W | het unknown | 0.259 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MICA-I236T | het unknown | 0.466 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-T238S | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-R274Q | het unknown | 0.478 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-G318Shift | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.25 | SNX19-L878R | het unknown | 0.809 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SNX19-N753S | het unknown | 0.633 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SNX19-L618F | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SNX19-V361L | het unknown | 0.712 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PCNT-G704E | homozygous | 0.894 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-T879A | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests |
| 0.25 | PCNT-V1038A | homozygous | 0.883 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-I1639V | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-N1841S | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-L2097P | het unknown | 0.202 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.25 | PCNT-H2125P | het unknown | 0.201 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-M2188R | het unknown | 0.201 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-H2247Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | PCNT-P2274L | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.25 | PCNT-Q2792R | homozygous | 0.693 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.25 | HYLS1-C31R | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests |
| 0.25 | KIF6-W719R | het unknown | 0.507 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.25 | TULP1-K261N | het unknown | 0.844 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TULP1-I259T | het unknown | 0.366 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TULP1-T67R | het unknown | 0.905 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SGSH-R456H | het unknown | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SLCO1B1-N130D | het unknown | 0.528 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLCO1B1-L643F | het unknown | 0.059 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | BRIP1-S919P | het unknown | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DPAGT1-I393V | het unknown | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL6A1-R850H | het unknown | 0.341 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | C3-P314L | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CBR3-C4Y | het unknown | 0.368 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.25 | CBR3-V244M | het unknown | 0.400 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.014 (benign) |
| 0.25 | WISP3-Q74H | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | RAX-D44E | het unknown | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | IGHMBP2-L201S | het unknown | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DSC2-I776V | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ANKK1-G318R | homozygous | 0.369 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.25 | ANKK1-G442R | homozygous | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ANKK1-H490R | homozygous | 0.385 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | ANKK1-L498Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MOCOS-S22R | het unknown | 0.057 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.707 (possibly damaging) |
| 0.25 | MOCOS-T170I | homozygous | 0.911 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MOCOS-S184G | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MOCOS-H225R | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.25 | MOCOS-V358M | homozygous | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MOCOS-A510Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | EYS-R2326Q | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-N1902I | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-L1873V | het unknown | 0.116 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-S1517G | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-R1515W | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-I1451T | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-L1419S | het unknown | 0.759 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-I1361V | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-Q1325E | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-I1263V | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-L852P | het unknown | 0.642 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-E641V | het unknown | 0.185 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-G631S | het unknown | 0.517 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-T120M | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | HLA-DQB1-V235I | het unknown | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HLA-DQB1-T217I | het unknown | 0.179 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HLA-DQB1-S214N | het unknown | 0.336 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HLA-DQB1-A172T | het unknown | 0.324 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HLA-DQB1-G157A | het unknown | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HLA-DQB1-G157S | het unknown | 0.191 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HLA-DQB1-V148I | het unknown | 0.180 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HLA-DQB1-D89A | het unknown | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HLA-DQB1-D89A | het unknown | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HLA-DQB1-A70V | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HLA-DQB1-Y62H | het unknown | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HLA-DQB1-L58G | het unknown | 0.132 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HLA-DQB1-L28S | het unknown | 0.375 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HLA-DQB1-L28S | het unknown | 0.375 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HLA-DQB1-S27T | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HLA-DQB1-M24I | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HLA-DQB1-D12G | het unknown | 0.400 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HLA-DQB1-A6S | het unknown | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MVK-S52N | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ACOX1-I312M | het unknown | 0.505 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ACADS-G209S | het unknown | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests |
| 0.25 | CDSN-N527D | homozygous | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CDSN-L410S | het unknown | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CDSN-F202S | het unknown | 0.264 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CDSN-S153Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CDSN-N143S | homozygous | 0.787 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CDSN-M18L | het unknown | 0.188 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RUFY1-Q454Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | RUFY1-S705A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PABPC3-L218V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PABPC3-M251I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PABPC3-K254Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PABPC3-E345* | het unknown | 0.054 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.25 | PABPC3-V365L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PABPC3-E381Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | AXIN2-P50S | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SUMF1-S63N | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
| 0.25 | PNPLA3-G115C | het unknown | 0.142 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PNPLA3-I148M | het unknown | 0.196 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.778 (possibly damaging) |
| 0.25 | PNPLA3-K434E | homozygous | 0.683 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | B3GALTL-E370K | het unknown | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATXN1-P753S | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT6B-I365V | het unknown | 0.301 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT6B-N227S | het unknown | 0.323 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MMAB-M239K | het unknown | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MMAB-R19Q | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CELA1-L210Shift | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.25 | CELA1-M59V | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.24 (possibly damaging) |
| 0.25 | CELA1-Y5P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CELA1-V3Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PFKM-R100Q | het unknown | 0.171 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests |
| 0.25 | KRT83-H493Y | het unknown | 0.751 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | KRT83-I279M | het unknown | 0.409 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GAA-V780I | het unknown | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALDH5A1-H180Y | het unknown | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.125 | CYP4F2-V433M | het unknown | 0.226 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.309 (possibly damaging) |
| 0.125 | CYP4F2-W12G | het unknown | 0.191 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0 | ITPA-P32T | het unknown | 0.061 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0 | CPN1-G178D | het unknown | 0.036 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.982 (probably damaging), Testable gene in GeneTests |
| 0 | JPH3-A271Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0 | MBL2-G54D | het unknown | 0.104 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests |
| 0 | COL9A1-P32Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0 | GUCY2D-P701S | het unknown | 0.025 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.183 (benign), Testable gene in GeneTests with associated GeneReview |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,744,326,398 bases (96.0% of callable positions, 89.1% of total positions)
Coding region coverage: 30,729,135 bases (92.3% of all genes, 93.5% 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