Variant report for huC30901
- Data source: CGI sample GS00253-DNA_B01_200_37
- This report: evidence.pgp-hms.org/genomes?a1778f2b5d1ec706cc1bc56abbc73bc6946d0d0c
- Person ID: huC30901
- public profile: my.pgp-hms.org/profile/huC30901
- Download: source data, dbSNP and nsSNP report (127 MB)
- Processing status: processing
- Show debugging info
Log file:
| Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
|---|---|---|---|---|---|---|---|
| 1 | CFH-Q950H | High | Uncertain | Uncertain pathogenic Dominant, Heterozygous | 0.00436884 | This rare variant was found heterozygously (presumed acting in a dominant manner) in a single sporadic case of atypical hemolytic-uremic syndrome — a potentially lethal medical emergency, usually occurring in childhood. Although predicted to be disruptive, observations of the variant lack statistical significance. | 1 |
| 2 | RP1-T373I | High | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.0119003 | Reported to cause recessive retinitis pigmentosa in some Pakistani families. Because it is unclear whether these families have some common ancestry, and because there may be an uncharacterized linked variant, this pathogenic effect of this variant is considered uncertain. | 1 |
| 3 | PEX1-I696M | High | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.0270547 | Reported as a mutation causing peroxisome biogenesis disorder in a single patient, presumably in a recessive manner. | 1 |
| 4 | FLG-S761Shift | Moderate | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.00793651 | Based on other severe variants in the same gene, this variant is likely to cause ichthyosis vulgaris when homozygous or compound heterozygous with another severe variant. Some authors report the variant has incomplete dominance, with heterozygotes generally having a very mild phenotype: some palmar hyperlinearity, keratosis pilaris and, in some cases fine scale. | 1 |
| 5 | SLC4A1-E40K | Moderate | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.0118052 | Rare and reported to cause hemolytic anemia in a recessive manner, although insufficient data is published to establish statistical significance. Polyphen 2 predicts a benign effect. | 1 |
| 6 | TGM1-Y312Shift | Moderate | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.0078125 | No known reports, but predicted to be highly disruptive and cause congenital ichthyosis in a recessive manner. | 1 |
| 7 | BTD-D444H | Low | Well-established | Well-established pathogenic Recessive, Carrier (Heterozygous) | 0.0298383 | This variant is implicated in partial and profound biotinidase deficiency. Alone, this variant is estimated to have a 52% loss of enzymatic activity. This variant is often found with A171T, and together they are reported to cause profound deficiency. Notably there is a report of asymptomatic double-mutant adults, so symptoms may have variable penetrance. This variant is found compound heterozygously with more serious mutations in cases of partial biotinidase deficiency. | 1 |
| 8 | COL4A1-Q1334H | Low | Likely | Likely pathogenic Dominant, Homozygous | 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 |
| 9 | 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 |
| 10 | CETP-A390P | Low | Likely | Likely pathogenic Unknown, Heterozygous | 0.0388548 | This variant is associated with slightly lower HDL (good) cholesterol, although it has a negligible effect (around 2 mg/dl). | 1 |
| 11 | AMPD1-Q12X | Low | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.0930643 | Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly. | 1 |
| 12 | RNASEL-R462Q | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.278026 | Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases. | 1 |
| 13 | 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 |
| 14 | TP53-P72R | Low | Uncertain | Uncertain pathogenic Unknown, Homozygous | 0.627743 | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. | 1 |
| 15 | 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 |
| 16 | ERCC6-R1213G | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.196877 | When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. | 1 |
| 17 | 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 |
| 18 | CYP2C9-R144C | Moderate | Well-established | Well-established pharmacogenetic Unknown, Heterozygous | 0.0970982 | This variant, also called CYP2C9*2, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is associated with Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant. | 1 |
| 19 | TPMT-Y240C | Low | Well-established | Well-established pharmacogenetic Complex/Other, Heterozygous | 0.0461825 | Alone, this variant is known as TPMT*3C -- but often, especially in Caucasians, it is found together with another nonsynonymous variant (A154T) to produce the TPMT*3A variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity, although *3C is milder than *3A. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug. | 1 |
| 20 | TPMT-A154T | Low | Likely | Likely pharmacogenetic Recessive, Carrier (Heterozygous) | 0.0280774 | Usually this variant is found in combination Y240C, forming the TPMT*3A variant. When alone, this variant produces the *3B variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug. | 1 |
| 21 | rs1544410 | Low | Uncertain | Uncertain pharmacogenetic Unknown, Heterozygous | 0.351562 | rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. | 1 |
| 22 | 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 |
| 23 | DTNBP1-P272S | Low | Uncertain | Uncertain protective Recessive, Carrier (Heterozygous) | 0.0351366 | Possibly a slight protective effect against colorectal cancer if homozygous. | 1 |
| 24 | 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 |
| 25 | COL6A3-D2831H | Low | Likely | Likely benign Unknown, Heterozygous | 0.0678565 | Probably benign, reported by Pan et al. as a presumed-nonpathogenic variant in the gene. | 1 |
| 26 | ADA-K80R | Low | Likely | Likely benign Recessive, Carrier (Heterozygous) | 0.0635806 | This variant has a 3.5% allele frequency in 1000 genomes data. Although OMIM links this to disease, the paper they reference uses in vitro data to conclude that this is a functionally neutral polymorphism. | 1 |
| 27 | PKHD1-I3905N | Low | Likely | Likely benign Unknown, Heterozygous | 0.048615 | Presumed benign, allele frequency contradicts severe pathogenic effect. | 1 |
| 28 | CACNA1S-L458H | Low | Likely | Likely benign Unknown, Heterozygous | 0.27282 | Common polymorphism | 1 |
| 29 | PKHD1-V3960I | Low | Likely | Likely benign Unknown, Heterozygous | 0.0128277 | Probably benign, reported as a nonpathogenic polymorphism found in controls. | 1 |
| 30 | KEL-T193M | Low | Uncertain | Uncertain benign Dominant, Heterozygous | 0.0320692 | This variant is also known as Kell or K1 or K (capitalized) in the Kell antigen system. K1-negative mothers (carrying no copies of this variant) carrying K1-positive fetuses (heterozygous or homozygous) are at risk for hemolytic disease of the newborn. About 9% of caucasians carry one or two copies of K1. | 1 |
| 31 | 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 |
| 32 | 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 |
| 33 | ELN-G581R | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.072876 | Probably a benign SNP, not rare (4.8% allele frequency in GET-Evidence data). | 1 |
| 34 | BRCA1-Q356R | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.0462911 | One common variant associated this variant with an increased risk of breast cancer, but a more recent, larger study found no association. | 1 |
| 35 | EDAR-V370A | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0105968 | Associated with thicker hair, common in Chinese and Japanese individuals and thought to be Asian-specific. | 1 |
| 36 | RELN-G1280E | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0112474 | Probably benign. | 1 |
| 37 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
| 38 | AMPD1-P48L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0940695 | Probably benign, ancestral to15173240 pathogenic Q12X mutation. | 1 |
| 39 | NDRG1-H41R | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.000743632 | Tentatively classified as benign, although predicted by Polyphen 2 to be damaging. Other more severe null mutations (frameshift and nonsense) in this gene are reported to cause Charcot-Marie-Tooth disease type 4 in a recessive manner. | 1 |
| 40 | VWF-G2705R | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0460123 | Probably benign, seems to be considered an uncommon polymorphism. | 1 |
| 41 | F5-D2222G | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0448968 | Other mutations in this gene are associated with Factor 5 deficiency. There is no literature implicating this variant, however, and it is fairly common in the population (3.8% in HapMap), and so it is currently labeled as benign. | 1 |
| 42 | ATM-V2079I | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.00641383 | Probably benign. | 1 |
| 43 | GALT-N314D | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0716676 | This variant has an allele frequency of ~8% and is ancestral to "Duarte" / "Duarte 2" and "Duarte 1"/"Los Angeles" galactosemia variants. This variant is evolutionarily ancestral, and in vitro studies fail to support an impact of this variant on enzyme activity. Carney et al. instead implicate a 4 base deletion on the 5' of the GALT gene as being causal and linked to this variant. Galactosemia is typically screened and detected in infants and causes early, severe but nonspecific symptoms (digestive problems, lethargy, failure to thrive). | 1 |
| 44 | NTRK1-H604Y | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0431307 | Various databases and papers treat this variant as a non-pathogenic polymorphism, although it is fairly uncommon and is computational methods predict it to be damaging. | 1 |
| 45 | 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 |
| 46 | NTRK1-G613V | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0429448 | Also called G607V, this variant has been reported as a nonpathogenic polymorphism. | 1 |
| 47 | PTCH1-P1315L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.29631 | Common polymorphism, presumed benign. | 1 |
| 48 | 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 |
| 49 | TAS2R38-A49P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.431121 | This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner. | 1 |
| 50 | PKP2-L366P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.221231 | This variant is a benign polymorphism. | 1 |
| 51 | USH2A-V230M | Low | Uncertain | Uncertain benign Recessive, Carrier (Heterozygous) | 0.0157092 | This rare variant may be associated with Usher Syndrome II, but the literature seems to have concluded that it is a non-pathogenic polymorphism (including authors who earlier reported it as pathogenic). | 1 |
| 52 | TYR-S192Y | Low | Uncertain | Uncertain benign Unknown, Homozygous | 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 |
| 53 | TERT-A279T | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0200037 | Reported as a rare but probably nonpathogenic polymorphism occurring in controls as well as patients. Other defects in this gene are associated with telomere shortening which may cause aplastic anemia or dyskeratosis congenita. | 1 |
| 54 | 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 |
| Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
|---|
Exome coverage: 31793152 / 33282720 = 95.52%
| Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
|---|---|---|---|---|---|---|
| 1 | AGRN | 1 | 0.79423264907136 | 1263 | 6138 | 955553-955753, 957707-957708, 976062-976069, 976086, 976089-976106, 976128-976130, 976149, 976153-976154, 976164-976175, 976198-976206, 976212-976260, 976553-976745, 976759, 976762, 976769-976772, 976858-976859, 976865-976895, 976914-976917, 976938-976943, 977056-977082, 977490-977516, 977522-977524, 978694-978701, 978707-978717, 979039-979045, 979386-979392, 979401-979403, 981582-981583, 981777-981779, 981795-981803, 981811-981821, 981836-981846, 981856-981924, 981931-981935, 981945-982033, 982086-982092, 982230, 982249, 982325-982337, 983400-983402, 983407, 983416-983420, 983424, 983434-983435, 983470-983512, 983541-983547, 983561-983745, 984281, 984323-984362, 984431, 985017-985019, 985116, 985165, 985173, 985382-985388, 985410, 985649-985652, 985679-985681, 985847, 986190-986196, 986636, 986658-986692, 986833-986841, 986845-986855, 986870-986871, 986888-986889, 986898-986901, 986954-986970, 990280, 990283 |
| 2 | GABRD | 1 | 0.93009565857248 | 95 | 1359 | 1950863-1950930, 1957037, 1961003-1961005, 1961011, 1961050-1961051, 1961186-1961191, 1961508-1961511, 1961540, 1961544, 1961549-1961550, 1961583-1961588 |
| 3 | PEX10 | 1 | 0.85219164118247 | 145 | 981 | 2337936-2337946, 2338205-2338206, 2340006-2340016, 2340021-2340023, 2340028-2340029, 2340034, 2340039, 2340116, 2340161, 2340168-2340169, 2340194, 2340200-2340202, 2340209, 2340212, 2340216-2340218, 2343835-2343866, 2343873-2343941 |
| 4 | NPHP4 | 1 | 0.99135715954216 | 37 | 4281 | 5925240, 5925244-5925246, 5925253-5925254, 5934958-5934959, 5935094-5935095, 5935106-5935107, 5935134-5935141, 5935148, 5937228-5937232, 5937245-5937255 |
| 5 | ESPN | 1 | 0.5906432748538 | 1050 | 2565 | 6485016-6485293, 6488301-6488336, 6488378-6488384, 6488426-6488432, 6488479, 6500399-6500437, 6500451-6500462, 6500480, 6500483-6500486, 6500686-6500868, 6501028, 6501031-6501032, 6501035-6501038, 6505724-6505732, 6505840-6505920, 6505931-6505937, 6508701-6508739, 6508746-6508754, 6508762-6508767, 6508784-6508785, 6508794-6508805, 6508812-6508846, 6508848-6508849, 6508853-6508861, 6508876-6509109, 6509126-6509132, 6511801-6511808, 6511970-6511976, 6512127-6512133, 6520149 |
| 6 | PLEKHG5 | 1 | 0.89306992787708 | 341 | 3189 | 6527923-6527925, 6529448-6529450, 6530613, 6530806-6530807, 6530810, 6530817, 6530820, 6530833, 6530836, 6530869-6530874, 6530879, 6530898, 6530910, 6531590, 6531596-6531597, 6531607, 6531641, 6532652, 6532660, 6532663, 6533152, 6533156-6533159, 6533407-6533411, 6533414-6533417, 6534073-6534224, 6534511-6534647, 6537683-6537685, 6557380-6557383 |
| 7 | KIF1B | 1 | 0.99284773197817 | 38 | 5313 | 10327496-10327503, 10356997, 10357013, 10357016, 10357019-10357030, 10357035-10357046, 10425584-10425585, 10425596 |
| 8 | PEX14 | 1 | 0.96649029982363 | 38 | 1134 | 10535030, 10684442-10684450, 10684453-10684455, 10684478-10684481, 10689672-10689675, 10689997-10690013 |
| 9 | MASP2 | 1 | 0.99854439592431 | 3 | 2061 | 11105499, 11106765-11106766 |
| 10 | MTHFR | 1 | 0.99137493658042 | 17 | 1971 | 11853983-11853998, 11863120 |
| 11 | PLOD1 | 1 | 0.98260073260073 | 38 | 2184 | 11994837-11994840, 11994854-11994856, 11994859-11994868, 11994872-11994887, 11994890-11994894 |
| 12 | CTRC | 1 | 0.99256505576208 | 6 | 807 | 15771129-15771131, 15771137-15771139 |
| 13 | CLCNKA | 1 | 0.95203488372093 | 99 | 2064 | 16353031-16353039, 16353047, 16353049-16353051, 16353058-16353062, 16353068-16353069, 16353077-16353085, 16353094, 16353226-16353270, 16353846-16353852, 16356988, 16357065, 16357144-16357150, 16358271, 16358699-16358705 |
| 14 | CLCNKB | 1 | 0.98546511627907 | 30 | 2064 | 16371067, 16374898, 16375055-16375057, 16375073-16375075, 16375615-16375622, 16378725, 16378881-16378887, 16382970-16382975 |
| 15 | ATP13A2 | 1 | 0.96951735817104 | 108 | 3543 | 17313042, 17313316, 17313319-17313326, 17313329, 17313335-17313355, 17313563-17313575, 17313593-17313631, 17313652, 17313654, 17313670-17313675, 17320285-17320287, 17322617-17322620, 17322631-17322635, 17323648, 17323651, 17326578, 17332051 |
| 16 | ALDH4A1 | 1 | 0.99172576832151 | 14 | 1692 | 19200964-19200965, 19200969, 19200976-19200977, 19200980, 19202917-19202919, 19204070, 19204079, 19204082, 19211990, 19229007 |
| 17 | PINK1 | 1 | 0.77835051546392 | 387 | 1746 | 20960042-20960428 |
| 18 | ALPL | 1 | 0.99746031746032 | 4 | 1575 | 21890585, 21903940-21903942 |
| 19 | HSPG2 | 1 | 0.98565573770492 | 189 | 13176 | 22149852, 22165399-22165406, 22165420-22165421, 22165437-22165440, 22165444, 22165951, 22165954, 22170720, 22170723, 22175386, 22181115, 22181119, 22181132, 22181411-22181453, 22181470, 22181934-22181935, 22182037, 22182040, 22182043, 22182054, 22191405-22191407, 22191454, 22191795, 22198848, 22199114-22199123, 22199130-22199148, 22199527-22199529, 22202512-22202514, 22205083, 22207000-22207006, 22211127-22211129, 22263648-22263710 |
| 20 | WNT4 | 1 | 0.91950757575758 | 85 | 1056 | 22446734-22446740, 22446938, 22469339-22469415 |
| 21 | GALE | 1 | 0.99044890162369 | 10 | 1047 | 24122649, 24122658-24122665, 24122676 |
| 22 | HMGCL | 1 | 0.99897750511247 | 1 | 978 | 24134787 |
| 23 | FUCA1 | 1 | 0.96359743040685 | 51 | 1401 | 24194425-24194444, 24194452-24194457, 24194459, 24194468-24194470, 24194474, 24194488, 24194494-24194499, 24194628-24194639, 24194746 |
| 24 | LDLRAP1 | 1 | 0.90399137001079 | 89 | 927 | 25870190-25870277, 25890249 |
| 25 | SEPN1 | 1 | 0.89028776978417 | 183 | 1668 | 26126722-26126904 |
| 26 | HPCA | 1 | 0.92096219931271 | 46 | 582 | 33359397-33359407, 33359416-33359450 |
| 27 | GJB3 | 1 | 0.99138991389914 | 7 | 813 | 35251080-35251086 |
| 28 | COL9A2 | 1 | 0.96231884057971 | 78 | 2070 | 40768389-40768391, 40768394, 40768397-40768398, 40768401-40768403, 40768407, 40769257, 40769487-40769511, 40773406, 40777355-40777358, 40777361, 40781305, 40782795, 40782802-40782803, 40782838-40782869 |
| 29 | KCNQ4 | 1 | 0.77298850574713 | 474 | 2088 | 41249766-41250013, 41250052, 41283899, 41284187-41284352, 41285104-41285110, 41285114, 41285120, 41285125, 41289901-41289906, 41303991-41304028, 41304041-41304043, 41304133 |
| 30 | CLDN19 | 1 | 0.96296296296296 | 25 | 675 | 43201557-43201581 |
| 31 | LEPRE1 | 1 | 0.9127091813659 | 193 | 2211 | 43232243-43232251, 43232258, 43232262-43232272, 43232281, 43232328, 43232342, 43232346-43232354, 43232360-43232363, 43232369, 43232376, 43232399-43232512, 43232591-43232598, 43232611-43232642 |
| 32 | SLC2A1 | 1 | 0.98715348208249 | 19 | 1479 | 43395285, 43424305-43424322 |
| 33 | MPL | 1 | 0.9538784067086 | 88 | 1908 | 43814534-43814540, 43814543-43814544, 43814934-43815012 |
| 34 | MUTYH | 1 | 0.9955385595921 | 7 | 1569 | 45797963-45797966, 45797969-45797971 |
| 35 | STIL | 1 | 0.99948280320662 | 2 | 3867 | 47748119, 47765644 |
| 36 | ORC1 | 1 | 0.99187935034803 | 21 | 2586 | 52838935, 52851545-52851547, 52851551, 52851555, 52851561-52851574, 52851581 |
| 37 | DHCR24 | 1 | 0.84784010315925 | 236 | 1551 | 55340778, 55340793, 55340803, 55341710-55341711, 55352562-55352792 |
| 38 | BSND | 1 | 0.99896157840083 | 1 | 963 | 55464865 |
| 39 | PCSK9 | 1 | 0.93650793650794 | 132 | 2079 | 55505544, 55505550, 55505553-55505557, 55505568-55505577, 55505587-55505590, 55505595, 55505598-55505599, 55509581-55509598, 55521688-55521689, 55521712-55521741, 55521750-55521794, 55524274, 55529187-55529192, 55529213-55529218 |
| 40 | ALG6 | 1 | 0.99281045751634 | 11 | 1530 | 63881580-63881583, 63881589-63881595 |
| 41 | LEPR | 1 | 0.99828473413379 | 6 | 3498 | 66036466, 66036469, 66083739-66083742 |
| 42 | RPE65 | 1 | 0.99625468164794 | 6 | 1602 | 68914384-68914389 |
| 43 | RPL5 | 1 | 0.99888143176734 | 1 | 894 | 93300379 |
| 44 | ABCA4 | 1 | 0.99574904720023 | 29 | 6822 | 94461680-94461694, 94461700-94461706, 94461713-94461717, 94497463, 94497493 |
| 45 | COL11A1 | 1 | 0.9704966098589 | 161 | 5457 | 103364222-103364223, 103364243-103364257, 103364263, 103364268-103364273, 103364275-103364288, 103364291-103364315, 103364497-103364514, 103364541-103364542, 103379913, 103380302, 103380305, 103380310, 103412454-103412457, 103412471, 103427424-103427431, 103427434, 103435777-103435787, 103440424, 103440433, 103440436, 103471640-103471643, 103471646-103471647, 103471837-103471841, 103471850-103471852, 103471855, 103471858-103471863, 103481281-103481298, 103548497, 103548510-103548512, 103548520, 103548526-103548527 |
| 46 | GSTM1 | 1 | 0.99847792998478 | 1 | 657 | 110235888 |
| 47 | NGF | 1 | 0.98484848484848 | 11 | 726 | 115828702-115828712 |
| 48 | CASQ2 | 1 | 0.9975 | 3 | 1200 | 116244024, 116244034-116244035 |
| 49 | HMGCS2 | 1 | 0.99934512115259 | 1 | 1527 | 120299910 |
| 50 | NOTCH2 | 1 | 0.97464940668824 | 188 | 7416 | 120539668, 120539687, 120539691, 120539711, 120539739-120539745, 120539778-120539784, 120539913-120539955, 120547962-120547968, 120548022-120548058, 120548091-120548097, 120572544-120572575, 120611957-120611968, 120611983-120612010, 120612017-120612020 |
| 51 | HFE2 | 1 | 0.9992193598751 | 1 | 1281 | 145415414 |
| 52 | FLG | 1 | 0.99655342195963 | 42 | 12186 | 152278399-152278437, 152279020-152279021, 152283103 |
| 53 | CHRNB2 | 1 | 0.98011928429423 | 30 | 1509 | 154540526-154540533, 154544381-154544382, 154544385-154544390, 154544395, 154544399-154544407, 154544410-154544411, 154544414, 154544419 |
| 54 | GBA | 1 | 0.99130974549969 | 14 | 1611 | 155205040-155205046, 155208418-155208424 |
| 55 | PKLR | 1 | 0.98840579710145 | 20 | 1725 | 155264351, 155269975-155269981, 155269990-155269991, 155269994, 155270005-155270009, 155270020-155270023 |
| 56 | LMNA | 1 | 0.91358024691358 | 49 | 567 | 156105032-156105065, 156105077-156105091 |
| 57 | LMNA | 1 | 0.95689223057644 | 86 | 1995 | 156084710-156084713, 156084727-156084752, 156084767, 156105032-156105065, 156105077-156105091, 156108320-156108321, 156108324-156108326, 156108351 |
| 58 | SEMA4A | 1 | 0.99781277340332 | 5 | 2286 | 156124438, 156131206, 156131210, 156131215, 156131218 |
| 59 | NTRK1 | 1 | 0.94061062317022 | 142 | 2391 | 156830727-156830857, 156843449-156843452, 156843609-156843615 |
| 60 | ATP1A2 | 1 | 0.99804113614104 | 6 | 3063 | 160085658-160085663 |
| 61 | MPZ | 1 | 0.97297297297297 | 21 | 777 | 161275736-161275737, 161275901, 161275904, 161275906-161275908, 161275911-161275914, 161279629-161279631, 161279646-161279648, 161279660, 161279670, 161279681-161279682 |
| 62 | SLC19A2 | 1 | 0.99933065595716 | 1 | 1494 | 169454966 |
| 63 | F5 | 1 | 0.99101123595506 | 60 | 6675 | 169497294-169497311, 169510348, 169510367, 169510380, 169510465-169510486, 169510502, 169510515, 169510524, 169510634-169510640, 169511596-169511602 |
| 64 | MYOC | 1 | 0.9980198019802 | 3 | 1515 | 171605363, 171621172-171621173 |
| 65 | FASLG | 1 | 0.99527186761229 | 4 | 846 | 172628350, 172628394-172628396 |
| 66 | NPHS2 | 1 | 0.92100694444444 | 91 | 1152 | 179544818, 179544821-179544822, 179544849-179544864, 179544869, 179544871, 179544875, 179544887, 179544890, 179544898, 179544911-179544915, 179544921-179544979, 179544983, 179544986 |
| 67 | LHX4 | 1 | 0.98976982097187 | 12 | 1173 | 180199665-180199673, 180199677-180199678, 180199685 |
| 68 | RNASEL | 1 | 0.99820305480683 | 4 | 2226 | 182555119-182555120, 182555135, 182555153 |
| 69 | LAMC2 | 1 | 0.99888330541597 | 4 | 3582 | 183155488, 183155492-183155493, 183155502 |
| 70 | HMCN1 | 1 | 0.99958599479536 | 7 | 16908 | 185947107-185947113 |
| 71 | PDC | 1 | 0.99865047233468 | 1 | 741 | 186418576 |
| 72 | CDC73 | 1 | 0.99937343358396 | 1 | 1596 | 193111034 |
| 73 | CFH | 1 | 0.98809523809524 | 44 | 3696 | 196658694-196658734, 196658743-196658744, 196706732 |
| 74 | CFHR1 | 1 | 0.99899295065458 | 1 | 993 | 196797357 |
| 75 | CFHR5 | 1 | 0.99707602339181 | 5 | 1710 | 196963266, 196963270, 196963316, 196977759, 196977762 |
| 76 | ASPM | 1 | 0.99731646540157 | 28 | 10434 | 197065259, 197104229-197104232, 197115275-197115280, 197115282-197115284, 197115286-197115287, 197115300, 197115499-197115509 |
| 77 | CACNA1S | 1 | 0.9928850942725 | 40 | 5622 | 201009382-201009385, 201009801-201009810, 201009833-201009838, 201023670-201023677, 201038625-201038631, 201038652-201038655, 201047075 |
| 78 | PKP1 | 1 | 0.99954149472719 | 1 | 2181 | 201286771 |
| 79 | CD46 | 1 | 0.99666666666667 | 4 | 1200 | 207943668-207943670, 207943681 |
| 80 | LAMB3 | 1 | 0.99914748508099 | 3 | 3519 | 209796345, 209796365-209796366 |
| 81 | RD3 | 1 | 0.99829931972789 | 1 | 588 | 211654722 |
| 82 | USH2A | 1 | 0.99961560638093 | 6 | 15609 | 215916519, 216061856, 216595464-216595467 |
| 83 | LBR | 1 | 0.98484848484848 | 28 | 1848 | 225592347-225592374 |
| 84 | ADCK3 | 1 | 0.98456790123457 | 30 | 1944 | 227152916, 227152920, 227171795-227171809, 227171922-227171927, 227171930-227171936 |
| 85 | GJC2 | 1 | 0.24242424242424 | 1000 | 1320 | 228345466-228345470, 228345479-228345866, 228345873-228345889, 228345897-228345901, 228345907, 228345910-228345916, 228345926, 228345938, 228345944, 228345950-228345953, 228345977-228345980, 228345987-228346238, 228346259-228346261, 228346308-228346317, 228346326-228346625, 228346680 |
| 86 | ACTA1 | 1 | 0.86155202821869 | 157 | 1134 | 229567814-229567860, 229567880-229567897, 229567906-229567932, 229568017, 229568079-229568087, 229568097-229568101, 229568106-229568115, 229568124-229568147, 229568338-229568347, 229568458-229568463 |
| 87 | LYST | 1 | 0.99386287918639 | 70 | 11406 | 235866134-235866136, 235866152-235866157, 235875452-235875479, 235896973, 235896982-235896983, 235896991, 235897141, 235897873, 235897880-235897881, 235907376, 235907379, 235933519, 235933522, 235933526-235933527, 235944239-235944240, 235944256, 235944262-235944268, 235944294-235944296, 235972448-235972449, 235973032, 235973035-235973037 |
| 88 | ACTN2 | 1 | 0.94748603351955 | 141 | 2685 | 236849974-236850099, 236917289-236917292, 236917297, 236917381, 236924416-236924424 |
| 89 | MTR | 1 | 0.99947340705635 | 2 | 3798 | 237013676, 237058731 |
| 90 | RYR2 | 1 | 0.9922168545357 | 116 | 14904 | 237205840, 237205849-237205869, 237729924-237729949, 237791226, 237791231-237791233, 237791242, 237821244-237821279, 237821299-237821322, 237838090, 237838095, 237942007 |
| 91 | FH | 1 | 0.9928245270711 | 11 | 1533 | 241672054, 241682947, 241682963-241682965, 241682971-241682973, 241682979, 241682991-241682992 |
| 92 | NLRP3 | 1 | 0.99967855994857 | 1 | 3111 | 247587723 |
| 93 | NET1 | 10 | 0.99609156895589 | 7 | 1791 | 5454670-5454671, 5454695-5454696, 5454702, 5454706, 5454709 |
| 94 | GATA3 | 10 | 0.93857677902622 | 82 | 1335 | 8097699, 8097725-8097748, 8097764-8097801, 8100738-8100755, 8100760 |
| 95 | PHYH | 10 | 0.97541789577188 | 25 | 1017 | 13341986-13341988, 13341994-13341996, 13341999-13342003, 13342014-13342022, 13342028-13342032 |
| 96 | CUBN | 10 | 0.9969646799117 | 33 | 10872 | 16882355, 16882358-16882367, 16882370, 16882374, 17032390, 17032393-17032396, 17085844, 17085908, 17085910, 17085923, 17142040-17142045, 17142049-17142050, 17142054, 17142093-17142094 |
| 97 | PTF1A | 10 | 0.27558257345491 | 715 | 987 | 23481460-23482174 |
| 98 | PDSS1 | 10 | 0.91586538461538 | 105 | 1248 | 26986670, 26986673, 26986681, 26986686-26986704, 26986720, 26986722, 26986726-26986745, 26986748, 26986759-26986766, 26994215, 26994225-26994227, 26994251-26994298 |
| 99 | RET | 10 | 0.96860986547085 | 105 | 3345 | 43572707-43572779, 43595979, 43595982, 43595996-43596006, 43598074-43598076, 43600517-43600521, 43615080-43615086, 43619212-43619214, 43619220 |
| 100 | ERCC6 | 10 | 0.98951360999554 | 47 | 4482 | 50736551-50736564, 50738843, 50740787-50740815, 50740818, 50740821-50740822 |
| 101 | CHAT | 10 | 0.92968402314197 | 158 | 2247 | 50822268-50822423, 50822481, 50822487 |
| 102 | PCDH15 | 10 | 0.99116997792494 | 52 | 5889 | 55587178-55587223, 55587241-55587243, 55626571, 56138661-56138662 |
| 103 | EGR2 | 10 | 0.99301187980433 | 10 | 1431 | 64573357, 64573493-64573495, 64573784-64573789 |
| 104 | NODAL | 10 | 0.99616858237548 | 4 | 1044 | 72201338, 72201342-72201344 |
| 105 | PRF1 | 10 | 0.95623501199041 | 73 | 1668 | 72358306-72358311, 72358314-72358317, 72358340-72358345, 72358448-72358491, 72358871-72358872, 72358875-72358876, 72360400-72360408 |
| 106 | PCBD1 | 10 | 0.99047619047619 | 3 | 315 | 72648288-72648290 |
| 107 | SLC29A3 | 10 | 0.99929971988796 | 1 | 1428 | 73082587 |
| 108 | CDH23 | 10 | 0.99194510739857 | 81 | 10056 | 73206086-73206093, 73464764-73464809, 73490298, 73490348-73490351, 73550129, 73565742, 73565745-73565754, 73565945, 73574824-73574827, 73574836-73574839, 73574907 |
| 109 | VCL | 10 | 0.96358296622614 | 124 | 3405 | 75757966-75758029, 75758067-75758074, 75758089-75758133, 75832539, 75873963, 75873966-75873969, 75873983 |
| 110 | LDB3 | 10 | 0.96978021978022 | 66 | 2184 | 88476084-88476088, 88476122, 88476158-88476185, 88476398-88476405, 88476411-88476421, 88476427-88476429, 88476434, 88476471-88476477, 88476487-88476488 |
| 111 | BMPR1A | 10 | 0.98936835522201 | 17 | 1599 | 88683133-88683149 |
| 112 | GLUD1 | 10 | 0.75313059033989 | 414 | 1677 | 88836362-88836368, 88854082-88854304, 88854310-88854313, 88854316, 88854337-88854351, 88854354, 88854357-88854367, 88854375-88854526 |
| 113 | LIPA | 10 | 0.99666666666667 | 4 | 1200 | 90974615-90974618 |
| 114 | ZFYVE27 | 10 | 0.99919093851133 | 1 | 1236 | 99512916 |
| 115 | HPS1 | 10 | 0.99430199430199 | 12 | 2106 | 100177358-100177361, 100177369, 100177373, 100177375, 100177385, 100177428-100177429, 100177460-100177461 |
| 116 | COX15 | 10 | 0.99837793998378 | 2 | 1233 | 101474447, 101491729 |
| 117 | PAX2 | 10 | 0.98999230177059 | 13 | 1299 | 102587324, 102587329-102587330, 102587333-102587341, 102587421 |
| 118 | FBXW4 | 10 | 0.93866020984665 | 76 | 1239 | 103371137, 103371140, 103454151, 103454213, 103454220-103454221, 103454229, 103454236-103454246, 103454249, 103454317-103454324, 103454329-103454343, 103454354-103454387 |
| 119 | HPS6 | 10 | 0.76417525773196 | 549 | 2328 | 103825232-103825520, 103825528-103825542, 103825545-103825574, 103825582, 103825608, 103825612, 103825639-103825686, 103825695-103825726, 103825747-103825750, 103825758-103825801, 103825808-103825846, 103826052-103826054, 103826060, 103826233-103826242, 103826246-103826254, 103826997-103827005, 103827440-103827452 |
| 120 | SUFU | 10 | 0.94295532646048 | 83 | 1455 | 104263910-104263959, 104263974-104263982, 104263985-104264007, 104264030 |
| 121 | COL17A1 | 10 | 0.98954161103694 | 47 | 4494 | 105794026-105794028, 105794035-105794036, 105794043, 105816803-105816804, 105816807-105816816, 105816821, 105816825-105816830, 105816834-105816855 |
| 122 | EMX2 | 10 | 0.70882740447958 | 221 | 759 | 119302779-119302967, 119302996-119303000, 119303004-119303017, 119303023-119303028, 119303041-119303047 |
| 123 | BAG3 | 10 | 0.89293981481481 | 185 | 1728 | 121411188-121411367, 121429577-121429580, 121431838 |
| 124 | FGFR2 | 10 | 0.99715793747462 | 7 | 2463 | 123279508-123279514 |
| 125 | HTRA1 | 10 | 0.72141372141372 | 402 | 1443 | 124221169-124221498, 124221511-124221513, 124221517, 124221560, 124221563-124221565, 124221568-124221610, 124221618, 124221622-124221638, 124266227, 124266234-124266235 |
| 126 | ACADSB | 10 | 0.99846035411855 | 2 | 1299 | 124810701-124810702 |
| 127 | UROS | 10 | 0.9812030075188 | 15 | 798 | 127477437-127477445, 127477455-127477456, 127477538-127477540, 127503615 |
| 128 | HRAS | 11 | 0.99122807017544 | 5 | 570 | 534213-534216, 534221 |
| 129 | TALDO1 | 11 | 0.9043392504931 | 97 | 1014 | 747482-747578 |
| 130 | SLC25A22 | 11 | 0.87037037037037 | 126 | 972 | 792023-792032, 792598-792617, 792624-792630, 792643, 792647-792690, 792693-792700, 792703, 792870-792874, 792881-792888, 792891, 792897-792905, 792920, 792923-792924, 792932-792939, 794794 |
| 131 | PNPLA2 | 11 | 0.81188118811881 | 285 | 1515 | 819719-819905, 823754, 823805, 823809, 823834-823855, 823998-824004, 824010-824016, 824027-824034, 824060, 824068, 824314-824316, 824331, 824337, 824340, 824343, 824402-824403, 824417, 824429, 824539-824549, 824643-824644, 824670-824672, 824708-824716, 824730-824741, 824789 |
| 132 | CTSD | 11 | 0.90395480225989 | 119 | 1239 | 1774747-1774750, 1775033-1775052, 1775062, 1775242, 1775245, 1775248, 1775253, 1775294, 1775310-1775311, 1775325-1775340, 1775348-1775368, 1778562, 1785022-1785031, 1785033, 1785052-1785089 |
| 133 | TNNI2 | 11 | 0.93989071038251 | 33 | 549 | 1861633-1861643, 1861667-1861674, 1862057-1862058, 1862062-1862063, 1862078, 1862081-1862083, 1862126-1862130, 1862333 |
| 134 | H19 | 11 | 0.91503267973856 | 91 | 1071 | 2017334, 2017415-2017421, 2017814-2017862, 2017964, 2017969, 2017975-2017979, 2017985-2017988, 2017993-2017996, 2018129-2018139, 2018145-2018146, 2018358-2018363 |
| 135 | IGF2 | 11 | 0.73980309423347 | 185 | 711 | 2154253, 2154343-2154350, 2154357, 2154368-2154380, 2161365-2161526 |
| 136 | TH | 11 | 0.88126984126984 | 187 | 1575 | 2187722-2187779, 2187865, 2187892, 2187949-2187983, 2187986-2187988, 2188119, 2188122, 2188171-2188174, 2188193, 2190924-2190928, 2190999-2191033, 2191923-2191928, 2191938-2191944, 2191949, 2191951, 2191954, 2191968-2191983, 2191989-2191998 |
| 137 | KCNQ1 | 11 | 0.83407188577056 | 337 | 2031 | 2466329-2466645, 2466655-2466670, 2466708-2466709, 2466714, 2869220 |
| 138 | CDKN1C | 11 | 0.23869610935857 | 724 | 951 | 2905236-2905252, 2905263-2905269, 2905273-2905274, 2905280-2905286, 2905292-2905296, 2905900-2906491, 2906507, 2906546-2906549, 2906562-2906571, 2906574-2906583, 2906589, 2906595-2906596, 2906607, 2906610, 2906618, 2906622-2906626, 2906632-2906640, 2906665-2906713 |
| 139 | SMPD1 | 11 | 0.98206751054852 | 34 | 1896 | 6411931-6411942, 6411953, 6412727-6412732, 6412737-6412746, 6412870, 6413164-6413166, 6413183 |
| 140 | SBF2 | 11 | 0.98702702702703 | 72 | 5550 | 9838389-9838393, 9838403, 9838407-9838411, 9838418-9838422, 9838478, 10315562-10315616 |
| 141 | ABCC8 | 11 | 0.99241466498104 | 36 | 4746 | 17449849, 17449852, 17449856, 17449861, 17449870-17449877, 17452427-17452428, 17452438-17452439, 17498273-17498278, 17498287-17498297, 17498316-17498318 |
| 142 | USH1C | 11 | 0.91444444444444 | 231 | 2700 | 17531112-17531339, 17531991-17531992, 17544991 |
| 143 | LDHA | 11 | 0.998998998999 | 1 | 999 | 18422490 |
| 144 | SLC6A5 | 11 | 0.99164578111947 | 20 | 2394 | 20622729-20622738, 20622800, 20622803, 20622852-20622858, 20622931 |
| 145 | ANO5 | 11 | 0.97228300510576 | 76 | 2742 | 22276968, 22276984-22277058 |
| 146 | FANCF | 11 | 0.98133333333333 | 21 | 1125 | 22646843-22646849, 22646941-22646947, 22647231-22647233, 22647237-22647239, 22647260 |
| 147 | PAX6 | 11 | 0.99369582348306 | 8 | 1269 | 31824288-31824292, 31824304, 31824311, 31824333 |
| 148 | WT1 | 11 | 0.72393822393822 | 429 | 1554 | 32449508-32449513, 32449518-32449520, 32456301, 32456343, 32456359, 32456362, 32456374, 32456441-32456454, 32456456-32456459, 32456495-32456891 |
| 149 | PDHX | 11 | 0.99136786188579 | 13 | 1506 | 34938208-34938217, 35016555-35016557 |
| 150 | RAG1 | 11 | 0.99936143039591 | 2 | 3132 | 36595044, 36596035 |
| 151 | ALX4 | 11 | 0.83090614886731 | 209 | 1236 | 44331147-44331195, 44331220-44331242, 44331249-44331317, 44331334-44331339, 44331358-44331401, 44331509, 44331540-44331541, 44331573-44331577, 44331591-44331593, 44331600-44331606 |
| 152 | SLC35C1 | 11 | 0.9375 | 66 | 1056 | 45827423-45827442, 45827448-45827453, 45827617-45827619, 45827629, 45827639-45827643, 45827657, 45827668-45827673, 45827678, 45827687, 45827690, 45827787, 45827793-45827798, 45827812-45827818, 45827835-45827837, 45827841-45827844 |
| 153 | PEX16 | 11 | 0.99039385206532 | 10 | 1041 | 45935966-45935969, 45935977, 45937372, 45939281-45939284 |
| 154 | DDB2 | 11 | 0.99922118380062 | 1 | 1284 | 47236805 |
| 155 | MYBPC3 | 11 | 0.99921568627451 | 3 | 3825 | 47365100-47365101, 47371441 |
| 156 | SLC39A13 | 11 | 0.98835125448029 | 13 | 1116 | 47431744-47431748, 47431766, 47433506, 47433912-47433916, 47435041 |
| 157 | RAPSN | 11 | 0.95722356739306 | 53 | 1239 | 47460299, 47460335, 47460338-47460339, 47460354, 47460387-47460393, 47460398-47460411, 47460425-47460428, 47464236-47464251, 47464260-47464264, 47469476, 47469665 |
| 158 | SERPING1 | 11 | 0.96540252827678 | 52 | 1503 | 57365744-57365794, 57381928 |
| 159 | TMEM216 | 11 | 0.96969696969697 | 8 | 264 | 61165267, 61165285-61165290, 61165338 |
| 160 | BEST1 | 11 | 0.99317406143345 | 12 | 1758 | 61719348-61719350, 61719355, 61723190, 61723361, 61723367, 61723378, 61723382, 61723385-61723386, 61723399 |
| 161 | ROM1 | 11 | 0.95265151515152 | 50 | 1056 | 62380754-62380758, 62380770-62380772, 62380775-62380778, 62380786-62380794, 62380822, 62380826-62380827, 62381862-62381887 |
| 162 | BSCL2 | 11 | 0.97120230381569 | 40 | 1389 | 62457914-62457950, 62472932-62472934 |
| 163 | SLC22A12 | 11 | 0.98255114320096 | 29 | 1662 | 64360284-64360290, 64367172-64367174, 64367254-64367256, 64367261-64367263, 64367267-64367279 |
| 164 | PYGM | 11 | 0.97232107552392 | 70 | 2529 | 64521030, 64521043-64521045, 64521119-64521133, 64521141-64521149, 64521400, 64527128-64527147, 64527156-64527176 |
| 165 | MEN1 | 11 | 0.99945887445887 | 1 | 1848 | 64572557 |
| 166 | RNASEH2C | 11 | 0.84646464646465 | 76 | 495 | 65488090-65488092, 65488095-65488097, 65488104, 65488107, 65488153-65488219, 65488229 |
| 167 | CST6 | 11 | 0.95111111111111 | 22 | 450 | 65779590, 65779605-65779607, 65779623-65779625, 65779650-65779656, 65779662, 65779667-65779668, 65779674-65779676, 65780413, 65780416 |
| 168 | BBS1 | 11 | 0.98035914702581 | 35 | 1782 | 66281877-66281880, 66298410-66298440 |
| 169 | SPTBN2 | 11 | 0.99052000557647 | 68 | 7173 | 66453475-66453480, 66453482-66453495, 66455339-66455341, 66455344-66455346, 66455350, 66455353-66455358, 66455382, 66455659, 66455662, 66455665, 66456143, 66457654-66457655, 66457721, 66460736, 66461280, 66461300-66461302, 66461650, 66472218, 66472222, 66472291, 66472294, 66472444-66472446, 66472659-66472669, 66472727-66472729 |
| 170 | PC | 11 | 0.99406276505513 | 21 | 3537 | 66620064-66620068, 66620118, 66633658-66633661, 66633684, 66633690-66633691, 66633774-66633780, 66633815 |
| 171 | CABP4 | 11 | 0.9951690821256 | 4 | 828 | 67225897-67225900 |
| 172 | AIP | 11 | 0.98590130916415 | 14 | 993 | 67257811-67257823, 67257827 |
| 173 | NDUFS8 | 11 | 0.99684044233807 | 2 | 633 | 67803930, 67803933 |
| 174 | TCIRG1 | 11 | 0.95868431608504 | 103 | 2493 | 67810219-67810220, 67810223, 67810258-67810294, 67810459-67810462, 67810882, 67810942-67810943, 67810962-67810964, 67811304, 67811311-67811316, 67811319-67811321, 67811324-67811344, 67811348-67811357, 67811645-67811655, 67816584 |
| 175 | LRP5 | 11 | 0.96575907590759 | 166 | 4848 | 68080183-68080273, 68115491-68115498, 68115711, 68131216-68131217, 68131260-68131261, 68192637, 68207349-68207384, 68216356, 68216359, 68216446-68216447, 68216453, 68216456-68216465, 68216468, 68216508-68216509, 68216521-68216527 |
| 176 | IGHMBP2 | 11 | 0.99698189134809 | 9 | 2982 | 68671469, 68671477, 68703959, 68704530-68704535 |
| 177 | DHCR7 | 11 | 0.95728291316527 | 61 | 1428 | 71146449-71146452, 71146455-71146456, 71146462-71146479, 71146482, 71146486-71146490, 71146499-71146500, 71146572-71146584, 71146594-71146597, 71146638-71146639, 71146667, 71146746, 71146824-71146828, 71146831-71146833 |
| 178 | LRTOMT | 11 | 0.99885844748858 | 1 | 876 | 71819716 |
| 179 | MYO7A | 11 | 0.99398315282792 | 40 | 6648 | 76858911-76858913, 76873374, 76873958-76873970, 76883896, 76890801, 76914258-76914259, 76916640-76916642, 76922284-76922299 |
| 180 | ALG8 | 11 | 0.99873497786211 | 2 | 1581 | 77812209-77812210 |
| 181 | FZD4 | 11 | 0.97955390334572 | 33 | 1614 | 86665898, 86665908, 86665922, 86666048-86666053, 86666088, 86666094-86666106, 86666109-86666113, 86666117-86666121 |
| 182 | TYR | 11 | 0.9937106918239 | 10 | 1590 | 88911399-88911402, 89028529-89028534 |
| 183 | MTMR2 | 11 | 0.9787784679089 | 41 | 1932 | 95657070-95657072, 95657078-95657114, 95657118 |
| 184 | TRPC6 | 11 | 0.99749642346209 | 7 | 2796 | 101342075-101342079, 101454203, 101454207 |
| 185 | DYNC2H1 | 11 | 0.9862495171881 | 178 | 12945 | 102991501, 102991504, 102991516-102991531, 103043820-103043846, 103043861-103043902, 103052486-103052507, 103052538, 103052550-103052551, 103052558, 103057033-103057040, 103062272-103062282, 103062293-103062298, 103062320-103062342, 103062982-103062989, 103070091, 103106452-103106454, 103126149-103126151, 103130665, 103173904 |
| 186 | ACAT1 | 11 | 0.99766355140187 | 3 | 1284 | 107992363, 107992366-107992367 |
| 187 | ATM | 11 | 0.99400283502344 | 55 | 9171 | 108098503-108098509, 108098518-108098522, 108127017-108127058, 108202225 |
| 188 | RDX | 11 | 0.98972602739726 | 18 | 1752 | 110108253, 110108296-110108308, 110108311, 110108318-110108319, 110126046 |
| 189 | ALG9 | 11 | 0.96023965141612 | 73 | 1836 | 111742080-111742086, 111742108-111742123, 111742125-111742145, 111742147-111742171, 111742177-111742180 |
| 190 | DLAT | 11 | 0.98199588477366 | 35 | 1944 | 111896405-111896408, 111909990-111909998, 111910003, 111910008-111910023, 111910027-111910031 |
| 191 | APOA1 | 11 | 0.96517412935323 | 28 | 804 | 116706631, 116706644, 116706728-116706734, 116706745-116706747, 116706767-116706769, 116706777-116706780, 116706798, 116706803-116706804, 116706886-116706891 |
| 192 | FXYD2 | 11 | 0.98858447488584 | 5 | 438 | 117693255, 117693261-117693264 |
| 193 | SCN4B | 11 | 0.99708879184862 | 2 | 687 | 118011974, 118011997 |
| 194 | ROBO3 | 11 | 0.95433789954338 | 190 | 4161 | 124738904-124738911, 124738922-124738932, 124738935-124738941, 124739429-124739431, 124742338-124742363, 124744755-124744759, 124745462, 124745908-124745937, 124745943-124745984, 124746016, 124746177-124746202, 124746213-124746231, 124746249-124746252, 124746261, 124746266, 124746329, 124746333, 124746337, 124748556, 124750418 |
| 195 | ACAD8 | 11 | 0.99278846153846 | 9 | 1248 | 134123506-134123508, 134123521-134123524, 134123529, 134123549 |
| 196 | WNK1 | 12 | 0.97775912715065 | 159 | 7149 | 862733-862736, 862739-862741, 862744-862745, 862790-862811, 862827-862861, 862866-862870, 862878-862902, 862931-862939, 862978, 862989, 863009, 863060, 863066-863069, 863142-863146, 863148, 863162-863165, 863172-863177, 863207, 863256-863270, 987429-987431, 994417, 1017071-1017072, 1017079-1017086 |
| 197 | CACNA2D4 | 12 | 0.99648506151142 | 12 | 3414 | 1920880, 1994225, 2027537-2027546 |
| 198 | CACNA1C | 12 | 0.99070263679317 | 61 | 6561 | 2705117, 2788718-2788720, 2788729, 2788876-2788879, 2788893-2788896, 2788902-2788907, 2794934-2794940, 2797632, 2797728-2797730, 2797826, 2797891-2797909, 2800176-2800177, 2800299, 2800302-2800306, 2800328, 2800331, 2800364 |
| 199 | KCNA1 | 12 | 0.99395161290323 | 9 | 1488 | 5020620, 5020680, 5020683, 5020697-5020699, 5020702, 5020836, 5020842 |
| 200 | VWF | 12 | 0.96327884387586 | 310 | 8442 | 6058181-6058183, 6058292-6058311, 6125301-6125344, 6125725, 6127655-6127661, 6128167-6128173, 6128339-6128345, 6128443, 6128449-6128451, 6131112-6131118, 6131926-6131932, 6131955-6131982, 6132003-6132033, 6166023-6166060, 6166082-6166088, 6166095-6166141, 6166162-6166178, 6166199-6166219, 6166227-6166238, 6167196, 6174423 |
| 201 | TNFRSF1A | 12 | 0.92543859649123 | 102 | 1368 | 6438493-6438529, 6438574-6438576, 6438600-6438647, 6438663-6438674, 6438984-6438985 |
| 202 | SCNN1A | 12 | 0.99359853680841 | 14 | 2187 | 6472614-6472615, 6472648-6472649, 6472663, 6472674, 6472688, 6472695, 6472719, 6472734, 6472744-6472747 |
| 203 | TPI1 | 12 | 0.85733333333333 | 107 | 750 | 6976731-6976778, 6976785-6976843 |
| 204 | ATN1 | 12 | 0.95214105793451 | 171 | 3573 | 7045597-7045603, 7045606-7045610, 7045613-7045617, 7045903-7045939, 7045989, 7045993, 7046311-7046338, 7046361-7046368, 7046378-7046386, 7046514-7046520, 7046533, 7046576-7046605, 7046704, 7046719, 7046723, 7047120-7047135, 7047140-7047145, 7047195, 7050625, 7050631-7050634, 7050677 |
| 205 | CDKN1B | 12 | 0.99832495812395 | 1 | 597 | 12871109 |
| 206 | GYS2 | 12 | 0.99289772727273 | 15 | 2112 | 21712026, 21712055-21712064, 21721886-21721889 |
| 207 | ABCC9 | 12 | 0.99634408602151 | 17 | 4650 | 21998547-21998552, 21998559-21998564, 21998575-21998576, 22025622, 22063863, 22063885 |
| 208 | DNM1L | 12 | 0.99004975124378 | 22 | 2211 | 32832380-32832388, 32832391-32832393, 32832398-32832399, 32890845-32890847, 32890853-32890857 |
| 209 | PKP2 | 12 | 0.94789180588703 | 131 | 2514 | 33049443-33049448, 33049454-33049459, 33049464-33049465, 33049502-33049508, 33049522-33049561, 33049571-33049604, 33049630-33049665 |
| 210 | KIF21A | 12 | 0.98776574408343 | 61 | 4986 | 39726754-39726762, 39726800-39726806, 39760205-39760210, 39760215, 39760224-39760226, 39836729-39836741, 39836751-39836772 |
| 211 | LRRK2 | 12 | 0.98997890295359 | 76 | 7584 | 40619009-40619041, 40643739, 40687376, 40734202, 40761479-40761518 |
| 212 | IRAK4 | 12 | 0.99204627621114 | 11 | 1383 | 44165135-44165137, 44165144-44165147, 44180204-44180207 |
| 213 | VDR | 12 | 0.98676012461059 | 17 | 1284 | 48238700-48238712, 48251362-48251365 |
| 214 | COL2A1 | 12 | 0.98297491039427 | 76 | 4464 | 48377517, 48379538-48379565, 48393807-48393813, 48393819, 48393831-48393836, 48393842-48393844, 48398055-48398065, 48398069-48398074, 48398080-48398081, 48398085-48398089, 48398095-48398096, 48398098-48398101 |
| 215 | MLL2 | 12 | 0.96003370651258 | 664 | 16614 | 49420803-49420806, 49420892, 49424106, 49424121, 49424416-49424425, 49424449-49424475, 49425432-49425437, 49425448-49425451, 49425814-49425815, 49425818-49425820, 49426111-49426114, 49426216, 49426496, 49426629, 49426632, 49426635, 49426638, 49426641-49426644, 49426675, 49426692, 49426708-49426823, 49426850-49426940, 49426949-49426983, 49427018-49427027, 49427031-49427037, 49427042, 49427046-49427055, 49427058, 49427063-49427066, 49427078, 49427087-49427096, 49427098-49427102, 49427119, 49427154, 49427168-49427169, 49427172, 49427196-49427232, 49427246-49427335, 49427547-49427569, 49427603, 49427607-49427611, 49427620-49427627, 49427658-49427665, 49427670-49427675, 49431291-49431293, 49431306-49431309, 49431318, 49431321, 49431333, 49431508-49431555, 49431830-49431838, 49431840, 49431843-49431845, 49433288, 49434049-49434051, 49434058-49434063, 49434074-49434083, 49434087-49434097, 49434509, 49434516-49434517, 49434939-49434940, 49435061, 49435110, 49435124, 49435127, 49435130, 49435454, 49443503-49443504 |
| 216 | DHH | 12 | 0.88832913518052 | 133 | 1191 | 49483642-49483647, 49483649, 49483664-49483670, 49483673-49483682, 49483709-49483734, 49483740-49483750, 49483753-49483775, 49483846, 49483849-49483851, 49483856-49483857, 49483868-49483871, 49483888-49483916, 49483976, 49483979-49483980, 49484129-49484133, 49484137, 49488204 |
| 217 | ACVRL1 | 12 | 0.96230158730159 | 57 | 1512 | 52307359, 52307364, 52307372, 52307378-52307385, 52309133-52309137, 52309145-52309146, 52312861-52312899 |
| 218 | KRT81 | 12 | 0.97957839262187 | 31 | 1518 | 52680259, 52682999-52683005, 52684928-52684943, 52685184, 52685187-52685191, 52685194 |
| 219 | KRT86 | 12 | 0.98083504449008 | 28 | 1461 | 52695763, 52695771, 52696007-52696022, 52697034, 52697949-52697955, 52702368-52702369 |
| 220 | KRT83 | 12 | 0.99797570850202 | 3 | 1482 | 52713115-52713117 |
| 221 | KRT6B | 12 | 0.9646017699115 | 60 | 1695 | 52841187, 52841338-52841344, 52841652, 52844243, 52844246, 52844265, 52845527-52845534, 52845598-52845604, 52845662-52845686, 52845713-52845719, 52845801 |
| 222 | KRT6C | 12 | 0.96637168141593 | 57 | 1695 | 52865903, 52865906, 52865918, 52865925, 52866009-52866025, 52867105, 52867186-52867193, 52867256-52867269, 52867324, 52867339-52867342, 52867456-52867463 |
| 223 | KRT6A | 12 | 0.96342182890855 | 62 | 1695 | 52881519, 52881868-52881874, 52885374-52885381, 52886553-52886559, 52886638-52886644, 52886708-52886714, 52886772-52886796 |
| 224 | KRT5 | 12 | 0.93683023124647 | 112 | 1773 | 52908767-52908768, 52908788-52908790, 52908811-52908850, 52908866-52908911, 52910511, 52912900-52912910, 52912918, 52912921-52912923, 52912928-52912932 |
| 225 | KRT2 | 12 | 0.996875 | 6 | 1920 | 53040616-53040618, 53040624, 53040627-53040628 |
| 226 | KRT1 | 12 | 0.98294573643411 | 33 | 1935 | 53069127-53069128, 53069223-53069243, 53069249, 53069257, 53069298-53069304, 53070159 |
| 227 | ITGA7 | 12 | 0.99708114419148 | 10 | 3426 | 56086695-56086698, 56088564-56088566, 56096907, 56101438, 56101454 |
| 228 | MYO1A | 12 | 0.99648786717752 | 11 | 3132 | 57431768, 57431782-57431791 |
| 229 | KIF5A | 12 | 0.97547595998709 | 76 | 3099 | 57944055, 57944062-57944105, 57944128, 57944133-57944142, 57944145-57944146, 57944156-57944173 |
| 230 | CDK4 | 12 | 0.99671052631579 | 3 | 912 | 58143005-58143007 |
| 231 | CYP27B1 | 12 | 0.99607072691552 | 6 | 1527 | 58159809-58159813, 58159964 |
| 232 | TSFM | 12 | 0.98364008179959 | 16 | 978 | 58176589-58176592, 58176599-58176603, 58176615-58176617, 58176620-58176623 |
| 233 | GNS | 12 | 0.99819168173599 | 3 | 1659 | 65152971, 65152976, 65152980 |
| 234 | LEMD3 | 12 | 0.92543859649123 | 204 | 2736 | 65563383-65563387, 65563390-65563393, 65563396-65563397, 65563403-65563409, 65563429, 65563437, 65563440, 65563450-65563459, 65563592-65563598, 65563602-65563609, 65563623-65563624, 65563627, 65563633-65563636, 65563639, 65563704-65563726, 65563734-65563765, 65563780-65563797, 65563838-65563875, 65563889-65563905, 65563971-65563978, 65563989-65563994, 65564002, 65564005-65564009, 65564091, 65564393 |
| 235 | CEP290 | 12 | 0.99045698924731 | 71 | 7440 | 88456514-88456520, 88471560-88471561, 88472979-88472980, 88472983-88472986, 88476826, 88476829, 88505482-88505483, 88505630-88505635, 88514053, 88519040-88519050, 88519061-88519080, 88519143, 88520195-88520202, 88522788-88522791, 88524951 |
| 236 | HAL | 12 | 0.99442755825735 | 11 | 1974 | 96380894, 96389640-96389647, 96389661, 96389664 |
| 237 | TMPO | 12 | 0.94580335731415 | 113 | 2085 | 98909709-98909717, 98909770-98909773, 98909776-98909812, 98909819-98909829, 98909853-98909856, 98909877-98909924 |
| 238 | SLC25A3 | 12 | 0.99908172635445 | 1 | 1089 | 98987839 |
| 239 | SLC17A8 | 12 | 0.98135593220339 | 33 | 1770 | 100774543-100774574, 100797879 |
| 240 | UNG | 12 | 0.95010615711253 | 47 | 942 | 109535527-109535564, 109535580, 109535583-109535586, 109535589, 109535597-109535599 |
| 241 | MVK | 12 | 0.99916036943745 | 1 | 1191 | 110034234 |
| 242 | TRPV4 | 12 | 0.99923547400612 | 2 | 2616 | 110221472, 110236537 |
| 243 | ATP2A2 | 12 | 0.98306168104826 | 53 | 3129 | 110719599-110719604, 110719611-110719646, 110719653-110719655, 110719666-110719672, 110719677 |
| 244 | MYL2 | 12 | 0.96806387225549 | 16 | 501 | 111348900-111348915 |
| 245 | ATXN2 | 12 | 0.82800608828006 | 678 | 3942 | 112036588-112037234, 112037246-112037251, 112037254-112037255, 112037258-112037264, 112037269, 112037272, 112037275-112037282, 112037284, 112037308-112037311, 112037313 |
| 246 | PTPN11 | 12 | 0.98933782267116 | 19 | 1782 | 112856916-112856929, 112893767-112893768, 112893773-112893775 |
| 247 | SDS | 12 | 0.99898682877406 | 1 | 987 | 113835111 |
| 248 | TBX5 | 12 | 0.9820166987797 | 28 | 1557 | 114793778, 114804116-114804118, 114804124-114804127, 114841604-114841611, 114841630-114841635, 114841687-114841688, 114841696-114841698, 114841703 |
| 249 | TBX3 | 12 | 0.87903225806452 | 270 | 2232 | 115109847-115109850, 115109856-115109870, 115109877-115109878, 115109880-115109882, 115109888, 115110042, 115112018-115112023, 115112039, 115112047, 115112053-115112063, 115112075-115112076, 115112081-115112093, 115112095-115112109, 115112112-115112115, 115112127-115112146, 115112223-115112250, 115112268-115112307, 115112316-115112336, 115112356-115112397, 115112416-115112450, 115112528-115112531, 115120848 |
| 250 | ACADS | 12 | 0.99757869249395 | 3 | 1239 | 121163717, 121163721, 121163733 |
| 251 | HNF1A | 12 | 0.92827004219409 | 136 | 1896 | 121416591-121416625, 121416647-121416653, 121416690-121416717, 121434169-121434171, 121435342, 121435363-121435365, 121435368, 121437307-121437317, 121437382, 121437394-121437402, 121437411-121437412, 121438873-121438907 |
| 252 | PUS1 | 12 | 0.89953271028037 | 129 | 1284 | 132414268-132414341, 132414452-132414463, 132414473-132414475, 132414480-132414481, 132414486, 132414490-132414494, 132414503-132414512, 132414515-132414516, 132414519, 132414522, 132414525, 132414537-132414545, 132425998-132426001, 132426007-132426008, 132426016, 132426437 |
| 253 | GJB6 | 13 | 0.99491094147583 | 4 | 786 | 20797226-20797227, 20797230, 20797356 |
| 254 | SACS | 13 | 0.98828238719068 | 161 | 13740 | 23906225, 23907321, 23911334-23911341, 23949258-23949408 |
| 255 | PDX1 | 13 | 0.76173708920188 | 203 | 852 | 28494318, 28494336, 28494343, 28494349-28494351, 28494354, 28494361-28494362, 28494407-28494413, 28494445-28494446, 28494449-28494450, 28494462-28494465, 28494509-28494511, 28494562-28494565, 28494581, 28494584-28494594, 28494597, 28494622, 28498393-28498400, 28498410-28498417, 28498433-28498455, 28498458-28498460, 28498469-28498518, 28498634-28498674, 28498693-28498702, 28498708-28498710, 28498758-28498764, 28498812-28498814, 28498819-28498820 |
| 256 | B3GALTL | 13 | 0.95323981295925 | 70 | 1497 | 31774222-31774291 |
| 257 | BRCA2 | 13 | 0.99990250560593 | 1 | 10257 | 32930709 |
| 258 | FREM2 | 13 | 0.99022082018927 | 93 | 9510 | 39261572-39261573, 39261793-39261798, 39261834-39261873, 39261911-39261923, 39261931-39261932, 39261946-39261951, 39261965-39261970, 39261973-39261975, 39262057-39262063, 39433583-39433584, 39450243-39450244, 39451290-39451293 |
| 259 | TNFSF11 | 13 | 0.94025157232704 | 57 | 954 | 43148494-43148550 |
| 260 | SUCLA2 | 13 | 0.96695402298851 | 46 | 1392 | 48528368-48528376, 48528384, 48528405, 48547451, 48547465-48547473, 48570992-48570997, 48571000-48571002, 48571005-48571018, 48575364, 48575367 |
| 261 | RB1 | 13 | 0.97201291711518 | 78 | 2787 | 48878090-48878097, 48878103, 48878118-48878185, 48923097 |
| 262 | RNASEH2B | 13 | 0.94675186368477 | 50 | 939 | 51484213-51484243, 51484258-51484276 |
| 263 | ATP7B | 13 | 0.99931787175989 | 3 | 4398 | 52523879-52523881 |
| 264 | CLN5 | 13 | 0.97630718954248 | 29 | 1224 | 77566266-77566267, 77566284-77566287, 77566293, 77566385-77566406 |
| 265 | EDNRB | 13 | 0.99548532731377 | 6 | 1329 | 78474705-78474707, 78474722, 78474762, 78477674 |
| 266 | SLITRK1 | 13 | 0.99808703969393 | 4 | 2091 | 84453781, 84453791-84453793 |
| 267 | GPC6 | 13 | 0.99820143884892 | 3 | 1668 | 93879785-93879787 |
| 268 | ZIC2 | 13 | 0.41338336460288 | 938 | 1599 | 100634319-100634831, 100634861-100634867, 100634870-100634871, 100634874, 100634887, 100634904-100634944, 100635000-100635040, 100635148-100635149, 100635207-100635228, 100637249-100637252, 100637340-100637342, 100637348, 100637583, 100637589-100637597, 100637603-100637610, 100637614, 100637619, 100637632-100637692, 100637699-100637891, 100637899-100637924 |
| 269 | PCCA | 13 | 0.9817101051669 | 40 | 2187 | 100741406, 100741431-100741469 |
| 270 | ERCC5 | 13 | 0.99598962019344 | 17 | 4239 | 103510680-103510686, 103515391-103515400 |
| 271 | COL4A1 | 13 | 0.98802395209581 | 60 | 5010 | 110864244, 110959308-110959316, 110959325-110959374 |
| 272 | F7 | 13 | 0.90411985018727 | 128 | 1335 | 113765019-113765093, 113765102-113765112, 113765117, 113765130-113765137, 113765156-113765164, 113770033, 113770036-113770045, 113770058, 113772804-113772805, 113772956-113772958, 113772962, 113773035-113773040 |
| 273 | F10 | 13 | 0.98841172460804 | 17 | 1467 | 113777180-113777188, 113777192, 113798222-113798228 |
| 274 | GRK1 | 13 | 0.97399527186761 | 44 | 1692 | 114321805-114321832, 114325866-114325867, 114325907-114325916, 114325951-114325952, 114325964, 114426065 |
| 275 | TEP1 | 14 | 0.99822425164891 | 14 | 7884 | 20841505, 20841527, 20841530, 20850868-20850874, 20851774-20851775, 20852377-20852378 |
| 276 | RPGRIP1 | 14 | 0.998186998187 | 7 | 3861 | 21769186-21769188, 21769196-21769198, 21819302 |
| 277 | SLC7A7 | 14 | 0.99674479166667 | 5 | 1536 | 23282120, 23282127, 23282133, 23282137, 23282143 |
| 278 | PABPN1 | 14 | 0.61780673181325 | 352 | 921 | 23790679-23791029, 23793493 |
| 279 | MYH6 | 14 | 0.9979381443299 | 12 | 5820 | 23858204-23858211, 23858232, 23862975-23862977 |
| 280 | MYH7 | 14 | 0.9939738292011 | 35 | 5808 | 23884848, 23886744-23886745, 23886756-23886759, 23886885, 23886888, 23887562-23887563, 23887567, 23887572, 23888386-23888405, 23894088-23894089 |
| 281 | NRL | 14 | 0.75350140056022 | 176 | 714 | 24550512, 24550515, 24550540, 24550550-24550560, 24550566-24550575, 24550581, 24550583-24550593, 24550607-24550653, 24550663, 24550667, 24550670-24550698, 24550707-24550718, 24550722-24550724, 24550737-24550777, 24551813, 24551816-24551819, 24551822 |
| 282 | TINF2 | 14 | 0.99926253687316 | 1 | 1356 | 24711490 |
| 283 | FOXG1 | 14 | 0.64965986394558 | 515 | 1470 | 29236486-29236982, 29237204, 29237207, 29237213, 29237267, 29237294-29237297, 29237310-29237312, 29237322-29237325, 29237338, 29237342, 29237348 |
| 284 | CFL2 | 14 | 0.9940119760479 | 3 | 501 | 35183744-35183746 |
| 285 | NKX2-1 | 14 | 0.55721393034826 | 534 | 1206 | 36986496-36986503, 36986579-36986648, 36986655-36986665, 36986672-36986911, 36986917-36986949, 36986976-36986990, 36987029-36987036, 36987048-36987051, 36987063-36987067, 36987078-36987097, 36987108-36987129, 36987201, 36988196, 36988247-36988253, 36988335-36988343, 36988376-36988381, 36988390-36988399, 36989260-36989265, 36989275-36989331, 36989334 |
| 286 | PAX9 | 14 | 0.9990253411306 | 1 | 1026 | 37132654 |
| 287 | FANCM | 14 | 0.99577029445258 | 26 | 6147 | 45605362-45605364, 45623912-45623914, 45623931, 45623936, 45623980, 45623992, 45623997, 45644516-45644520, 45644526-45644531, 45644707, 45650642-45650644 |
| 288 | MGAT2 | 14 | 0.99032738095238 | 13 | 1344 | 50088123-50088127, 50088132-50088133, 50088142-50088146, 50088149 |
| 289 | C14orf104 | 14 | 0.75377883850438 | 619 | 2514 | 50092486-50092490, 50092506-50092511, 50092514-50092515, 50100607, 50100630, 50100637, 50100667-50100679, 50100683, 50100690-50100704, 50100728-50100735, 50100748-50100750, 50100754-50100758, 50100770-50100854, 50100870-50101069, 50101078-50101117, 50101119-50101124, 50101127-50101136, 50101138-50101140, 50101153-50101174, 50101232-50101239, 50101243-50101259, 50101267-50101271, 50101337-50101469, 50101476-50101477, 50101483, 50101557, 50101560-50101568, 50101574, 50101694, 50101801-50101804, 50101848-50101857 |
| 290 | L2HGDH | 14 | 0.99353448275862 | 9 | 1392 | 50778736-50778738, 50778742, 50778745-50778748, 50778816 |
| 291 | PYGL | 14 | 0.99724842767296 | 7 | 2544 | 51410949-51410951, 51410958-51410961 |
| 292 | GCH1 | 14 | 0.77954847277556 | 166 | 753 | 55326415-55326416, 55326419, 55369114-55369140, 55369234-55369236, 55369239, 55369250-55369381 |
| 293 | OTX2 | 14 | 0.99776286353468 | 2 | 894 | 57272087, 57272090 |
| 294 | SIX6 | 14 | 0.98515519568151 | 11 | 741 | 60976533, 60976537, 60977833-60977837, 60977858-60977861 |
| 295 | SIX1 | 14 | 0.9625730994152 | 32 | 855 | 61115420-61115432, 61115539, 61115542, 61115601-61115604, 61115608, 61115612-61115619, 61115623-61115626 |
| 296 | SYNE2 | 14 | 0.9979733642154 | 42 | 20724 | 64447782, 64447785, 64457808, 64460553-64460554, 64580271, 64608182-64608194, 64676700, 64676703-64676708, 64676716, 64676722, 64685217-64685225, 64692127-64692131 |
| 297 | ZFYVE26 | 14 | 0.99842519685039 | 12 | 7620 | 68242690-68242697, 68265210, 68274192-68274194 |
| 298 | PSEN1 | 14 | 0.99928774928775 | 1 | 1404 | 73678629 |
| 299 | VSX2 | 14 | 0.92081031307551 | 86 | 1086 | 74706323-74706325, 74706329-74706342, 74706393-74706399, 74706410-74706420, 74706423, 74706427, 74706452-74706454, 74706460-74706465, 74706471-74706472, 74706476-74706484, 74706566, 74706571-74706572, 74706575, 74706601-74706616, 74706619-74706620, 74706624-74706630 |
| 300 | EIF2B2 | 14 | 0.96022727272727 | 42 | 1056 | 75471483-75471524 |
| 301 | FLVCR2 | 14 | 0.99810246679317 | 3 | 1581 | 76045905-76045906, 76112771 |
| 302 | TGFB3 | 14 | 0.98224374495561 | 22 | 1239 | 76447191-76447210, 76447218-76447219 |
| 303 | ESRRB | 14 | 0.96987557301899 | 46 | 1527 | 76905728-76905732, 76964670-76964671, 76964675, 76964681-76964697, 76964703-76964713, 76964715-76964719, 76964724-76964728 |
| 304 | POMT2 | 14 | 0.96404793608522 | 81 | 2253 | 77745192-77745194, 77786832, 77786870, 77786893-77786927, 77786948-77786973, 77786978-77786988, 77787013-77787016 |
| 305 | VIPAR | 14 | 0.99865047233468 | 2 | 1482 | 77894758, 77894761 |
| 306 | GALC | 14 | 0.9645286686103 | 73 | 2058 | 88459333-88459334, 88459339, 88459380-88459410, 88459427-88459437, 88459445-88459449, 88459451-88459452, 88459456-88459469, 88459472-88459478 |
| 307 | SPATA7 | 14 | 0.99666666666667 | 6 | 1800 | 88883149-88883150, 88883153-88883155, 88883167 |
| 308 | TTC8 | 14 | 0.96705426356589 | 51 | 1548 | 89305804-89305813, 89343646-89343682, 89343716-89343717, 89343722-89343723 |
| 309 | ATXN3 | 14 | 0.96961325966851 | 33 | 1086 | 92537351-92537382, 92559630 |
| 310 | AMN | 14 | 0.53010279001468 | 640 | 1362 | 103390134, 103394786-103394835, 103395119-103395155, 103395161, 103395185-103395189, 103395192-103395201, 103395211-103395214, 103395224-103395228, 103395263-103395266, 103395274-103395278, 103395458-103395478, 103395501-103395535, 103395541-103395551, 103395559-103395565, 103395569, 103395575-103395579, 103395587-103395594, 103395769-103395772, 103395777, 103395787-103395790, 103395855-103395873, 103395992-103395993, 103396035, 103396305-103396351, 103396371-103396401, 103396422-103396423, 103396502-103396664, 103396743-103396793, 103396802-103396830, 103396913-103396949, 103396952, 103396969-103397006 |
| 311 | INF2 | 14 | 0.86453333333333 | 508 | 3750 | 105167721-105167725, 105167890, 105167909-105167939, 105167962-105167969, 105167975-105167978, 105168013-105168015, 105168018, 105168022, 105169762, 105170253, 105170256, 105170259-105170263, 105170276, 105173302, 105173622, 105173631-105173634, 105173639-105173641, 105173645-105173649, 105173674, 105173678, 105173707-105173709, 105173719-105173725, 105173748-105173753, 105173759-105173774, 105173777, 105173782-105173787, 105173839-105174188, 105174235-105174237, 105174270-105174276, 105174285-105174288, 105174315-105174328, 105174337-105174339, 105177500, 105179615, 105181126-105181132 |
| 312 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 23086234-23086411 |
| 313 | UBE3A | 15 | 0.97869101978691 | 56 | 2628 | 25584284, 25584339, 25616145-25616177, 25616251-25616257, 25616358-25616364, 25616620-25616626 |
| 314 | OCA2 | 15 | 0.98092967818832 | 48 | 2517 | 28202817-28202819, 28202823-28202825, 28202836-28202842, 28263554-28263556, 28263680-28263681, 28326866-28326868, 28326873-28326884, 28326889-28326890, 28326894-28326898, 28326946, 28326955-28326956, 28326959, 28326969-28326972 |
| 315 | TRPM1 | 15 | 0.99168744804655 | 40 | 4812 | 31320556-31320594, 31320617 |
| 316 | ACTC1 | 15 | 0.9973544973545 | 3 | 1134 | 35086920-35086922 |
| 317 | IVD | 15 | 0.9992193598751 | 1 | 1281 | 40698089 |
| 318 | CHST14 | 15 | 0.83731211317418 | 184 | 1131 | 40763413-40763545, 40763561, 40763564-40763573, 40763655, 40763661-40763667, 40763677-40763680, 40763683, 40763690, 40763694, 40763720, 40763726-40763728, 40763738, 40763747, 40763798, 40763804-40763813, 40763820-40763824, 40763828-40763829, 40763993 |
| 319 | CAPN3 | 15 | 0.99877450980392 | 3 | 2448 | 42652056-42652058 |
| 320 | CDAN1 | 15 | 0.88897937024973 | 409 | 3684 | 43017731-43017732, 43019901-43019903, 43021451, 43021798-43021799, 43026459-43026461, 43026464, 43026488-43026490, 43028528-43028530, 43028540-43028542, 43028545, 43028578-43028583, 43028592-43028593, 43028605-43028606, 43028664-43028669, 43028678, 43028682-43028685, 43028689-43028695, 43028697, 43028711-43028978, 43029211-43029300 |
| 321 | TTBK2 | 15 | 0.99651941097724 | 13 | 3735 | 43067749-43067752, 43067857, 43103891, 43103895-43103898, 43103958-43103960 |
| 322 | STRC | 15 | 0.98855105105105 | 61 | 5328 | 43896222-43896225, 43896233, 43896236-43896245, 43896250-43896254, 43896257, 43896313, 43905040, 43905043, 43905047, 43905050, 43905053-43905055, 43905066, 43905356-43905360, 43908044-43908045, 43908070, 43908185-43908194, 43908560, 43910219, 43910867-43910872, 43910889, 43910893-43910896 |
| 323 | STRC | 15 | 0.99832495812395 | 1 | 597 | 44004822 |
| 324 | STRC | 15 | 0.99282051282051 | 14 | 1950 | 44007506-44007507, 44007532, 44007647-44007656, 44009681 |
| 325 | SPG11 | 15 | 0.99822695035461 | 13 | 7332 | 44876586, 44955671, 44955688, 44955691-44955692, 44955699-44955706 |
| 326 | DUOX2 | 15 | 0.98127824402841 | 87 | 4647 | 45398348-45398359, 45403587, 45403590-45403592, 45403621-45403659, 45403669, 45403691-45403695, 45403701-45403710, 45403715-45403717, 45403736-45403739, 45403747, 45403750, 45403756, 45403780-45403783, 45404813-45404814 |
| 327 | GATM | 15 | 0.95361635220126 | 59 | 1272 | 45670583-45670591, 45670601-45670650 |
| 328 | FBN1 | 15 | 0.99988393686165 | 1 | 8616 | 48936957 |
| 329 | CEP152 | 15 | 0.99577039274924 | 21 | 4965 | 49036438, 49036441-49036449, 49036515, 49059563-49059566, 49059573, 49059583, 49059589-49059590, 49076178-49076179 |
| 330 | TPM1 | 15 | 0.95672514619883 | 37 | 855 | 63335040-63335050, 63335086-63335088, 63335092-63335093, 63335130-63335142, 63335940, 63336014-63336020 |
| 331 | PPIB | 15 | 0.87711213517665 | 80 | 651 | 64455077-64455079, 64455094-64455141, 64455146-64455164, 64455171-64455173, 64455179-64455185 |
| 332 | CLN6 | 15 | 0.90705128205128 | 87 | 936 | 68500667, 68506712-68506714, 68521840-68521922 |
| 333 | NR2E3 | 15 | 0.89130434782609 | 120 | 1104 | 72103826-72103852, 72103886-72103947, 72104153-72104158, 72104167-72104174, 72104184, 72104188-72104189, 72104399-72104405, 72105805-72105811 |
| 334 | HEXA | 15 | 0.98867924528302 | 18 | 1590 | 72668074, 72668140-72668156 |
| 335 | HCN4 | 15 | 0.69767441860465 | 1092 | 3612 | 73614826, 73614834, 73614851, 73614854, 73614880-73614888, 73614891, 73614895-73614901, 73614906, 73614926-73614927, 73615018-73615043, 73615060-73615076, 73615080-73615081, 73615084-73615094, 73615112-73615150, 73615191-73615214, 73615222-73615269, 73615301, 73615363-73615369, 73615393-73615440, 73615474, 73615486, 73615492, 73615499-73615503, 73615507, 73615512, 73615577, 73615581, 73615585-73615599, 73615627-73615668, 73615720-73615746, 73615778, 73615888, 73615924-73615930, 73615967-73615976, 73615985-73616114, 73616158, 73616161, 73616164-73616190, 73616194, 73616206, 73616284, 73616545, 73616556, 73617647, 73624513-73624525, 73624536, 73659858, 73659861-73659863, 73659866, 73660066-73660611 |
| 336 | MPI | 15 | 0.99449685534591 | 7 | 1272 | 75188660-75188666 |
| 337 | FAH | 15 | 0.99920634920635 | 1 | 1260 | 80472530 |
| 338 | RPS17 | 15 | 0.99754901960784 | 1 | 408 | 83208789 |
| 339 | POLG | 15 | 0.97016129032258 | 111 | 3720 | 89871972-89871979, 89876597-89876628, 89876684, 89876689, 89876817-89876821, 89876824-89876830, 89876836-89876854, 89876857-89876869, 89876907-89876924, 89876945-89876946, 89876949-89876953 |
| 340 | MESP2 | 15 | 0.81742043551089 | 218 | 1194 | 90319646, 90319728, 90319731, 90319734-90319738, 90319770-90319817, 90319931, 90319936-90319939, 90319952-90319965, 90319969-90320045, 90320047-90320052, 90320055, 90320058, 90320088-90320107, 90320121-90320149, 90320159-90320163, 90320250, 90320260-90320261, 90320286 |
| 341 | VPS33B | 15 | 0.99946062567422 | 1 | 1854 | 91565412 |
| 342 | IGF1R | 15 | 0.97685185185185 | 95 | 4104 | 99192819-99192904, 99473516-99473524 |
| 343 | HBZ | 16 | 0.42890442890443 | 245 | 429 | 203891-204095, 204271-204293, 204321-204322, 204328, 204331, 204335-204341, 204394-204399 |
| 344 | HBM | 16 | 0.6924882629108 | 131 | 426 | 216068-216072, 216077, 216275-216277, 216288, 216297, 216311-216314, 216318-216319, 216325-216334, 216339-216341, 216353-216365, 216371-216458 |
| 345 | HBA2 | 16 | 0.89277389277389 | 46 | 429 | 222922, 222948-222979, 223201, 223216-223225, 223239, 223243 |
| 346 | GNPTG | 16 | 0.94444444444444 | 51 | 918 | 1401967-1402017 |
| 347 | CLCN7 | 16 | 0.9106699751861 | 216 | 2418 | 1497071-1497087, 1497394, 1497541, 1497547-1497550, 1497552, 1497555, 1500538, 1500541, 1500548, 1500575, 1500616-1500622, 1500630-1500661, 1506146, 1506149-1506151, 1506158-1506160, 1524835-1524975 |
| 348 | IGFALS | 16 | 0.89855072463768 | 196 | 1932 | 1840882-1840889, 1840993, 1841017-1841025, 1841037-1841044, 1841063, 1841110-1841112, 1841135-1841138, 1841141-1841145, 1841231-1841239, 1841247-1841250, 1841255-1841290, 1841338-1841349, 1841403-1841411, 1841422, 1841449-1841451, 1841529, 1841637-1841638, 1841785, 1841823-1841849, 1841961-1841971, 1841974-1841975, 1841978-1841983, 1842068-1842072, 1842075-1842080, 1842090-1842093, 1842096-1842098, 1842327, 1842332, 1842339, 1842349, 1842352, 1842366-1842367, 1842385, 1842391-1842397 |
| 349 | GFER | 16 | 0.58252427184466 | 258 | 618 | 2034220-2034477 |
| 350 | TSC2 | 16 | 0.98783185840708 | 66 | 5424 | 2103361, 2103381-2103386, 2103392, 2103396-2103403, 2103411, 2103416, 2103421-2103422, 2103425, 2106675, 2106758, 2112568-2112574, 2121847-2121856, 2121861, 2121866, 2121870-2121872, 2124335-2124336, 2124347-2124357, 2124360, 2124371, 2129646, 2136339, 2136365-2136367, 2136782 |
| 351 | PKD1 | 16 | 0.81327447335812 | 2411 | 12912 | 2139801-2139802, 2139839-2139845, 2139852, 2139855, 2139868-2139907, 2139913-2139932, 2140045-2140046, 2140677, 2140682-2140683, 2140755-2140773, 2140792-2140803, 2140912-2140917, 2140930-2140932, 2140940-2140948, 2140950-2140951, 2140985-2140986, 2140994-2141002, 2141006-2141014, 2141034, 2141052-2141175, 2141424-2141483, 2141495-2141516, 2141537-2141546, 2141549-2141560, 2141566-2141598, 2141784-2141786, 2141789, 2141798-2141823, 2142529, 2143625, 2144155-2144157, 2147149-2147151, 2147154, 2147187, 2147193-2147196, 2147381, 2147397, 2147444-2147451, 2147946-2147985, 2149726-2149727, 2149742-2149745, 2149767-2149771, 2149965, 2149969, 2149993, 2150019-2150025, 2150045-2150072, 2150554-2150567, 2152243-2152257, 2153267-2153306, 2153325, 2153369-2153377, 2153395, 2153465, 2153472, 2153478, 2153666-2153737, 2153747-2153784, 2153863, 2153871, 2154547-2154643, 2155330-2155378, 2155906-2155931, 2156240-2156283, 2156442-2156474, 2156498-2156526, 2156656-2156678, 2156807-2156824, 2156935, 2158274-2158307, 2158407-2158409, 2158413, 2158530-2158533, 2158536, 2158558-2158590, 2158732, 2158752, 2158772, 2158783-2158788, 2158803, 2158822, 2158839, 2158849, 2158864-2158870, 2158916-2158956, 2159019, 2159096-2159099, 2159118-2159150, 2159177, 2159184, 2159220-2159246, 2159268-2159292, 2159389-2159409, 2159441-2159445, 2159449-2159452, 2159456-2159463, 2159473-2159483, 2159553, 2159636-2159648, 2159792-2159811, 2159960-2159966, 2160074, 2160137, 2160454, 2160458, 2160677-2160691, 2160714-2160733, 2160769-2160775, 2161309, 2161325, 2161464-2161475, 2161737-2161747, 2161806-2161837, 2162832-2162834, 2163179, 2164212-2164244, 2164441, 2164444, 2164448, 2164454, 2164488, 2164802-2164812, 2164919-2164925, 2165379-2165402, 2165501-2165507, 2165543-2165544, 2166581-2166588, 2166834-2166861, 2166869-2166870, 2166895-2166896, 2166909, 2166923-2166925, 2166950-2166995, 2167044, 2167545-2167568, 2167668-2167673, 2167799, 2167803, 2167829-2167877, 2167903, 2167918-2168003, 2168030-2168046, 2168055-2168087, 2168127-2168218, 2168226-2168246, 2168276, 2168287-2168431, 2168459-2168463, 2168715-2168716, 2168735-2168755, 2169339-2169356, 2185476-2185690 |
| 352 | ABCA3 | 16 | 0.99667644183773 | 17 | 5115 | 2331175, 2334355, 2338059-2338063, 2338073-2338077, 2338086, 2338089-2338091, 2339546 |
| 353 | MEFV | 16 | 0.9616368286445 | 90 | 2346 | 3304408-3304410, 3304472, 3304503-3304505, 3304509-3304515, 3304520-3304521, 3304555, 3304560, 3304622-3304635, 3304643-3304700 |
| 354 | SLX4 | 16 | 0.99382379654859 | 34 | 5505 | 3632398-3632407, 3632458, 3632463-3632464, 3632583-3632585, 3632589, 3632594-3632598, 3633310, 3639363, 3639574, 3639815, 3639872, 3639875, 3639999, 3642718, 3642809-3642812 |
| 355 | CREBBP | 16 | 0.90721790148724 | 680 | 7329 | 3777738-3777799, 3778105-3778149, 3778345-3778367, 3778391-3778392, 3778403-3778470, 3778556-3778605, 3778788-3778842, 3778877-3778925, 3778949-3778955, 3778960-3778972, 3778985-3778987, 3778991-3778993, 3779011-3779013, 3779022, 3779034, 3779038-3779052, 3779055, 3779072-3779076, 3779112, 3779171-3779248, 3779273, 3779276, 3779279, 3779315-3779320, 3779340-3779341, 3779345, 3779417-3779421, 3779441-3779453, 3779457-3779496, 3779705-3779736, 3781843, 3786149, 3831233-3831238, 3929833-3929917 |
| 356 | GLIS2 | 16 | 0.95111111111111 | 77 | 1575 | 4385160-4385162, 4386814, 4386817, 4386823, 4386976-4386978, 4386984-4386986, 4386992-4386993, 4387051-4387060, 4387086-4387118, 4387160-4387162, 4387188-4387190, 4387197, 4387201-4387202, 4387205-4387208, 4387364, 4387368-4387372, 4387375 |
| 357 | ALG1 | 16 | 0.86810035842294 | 184 | 1395 | 5121855-5121861, 5127938, 5128818-5128872, 5130958-5130999, 5131009-5131057, 5134809-5134833, 5134878-5134882 |
| 358 | PMM2 | 16 | 0.97975708502024 | 15 | 741 | 8891756-8891765, 8891800-8891804 |
| 359 | MYH11 | 16 | 0.99949494949495 | 3 | 5940 | 15811105, 15811108, 15811197 |
| 360 | ABCC6 | 16 | 0.98249113475177 | 79 | 4512 | 16308229-16308235, 16313792, 16315654-16315688, 16317256-16317291 |
| 361 | UMOD | 16 | 0.96567862714509 | 66 | 1923 | 20359859-20359898, 20360133-20360140, 20360151-20360157, 20360162, 20360267, 20360276, 20360314, 20360325-20360331 |
| 362 | OTOA | 16 | 0.99415204678363 | 20 | 3420 | 21696580, 21696601, 21696615, 21696632-21696634, 21742176-21742182, 21747694-21747700 |
| 363 | SCNN1B | 16 | 0.99635985439418 | 7 | 1923 | 23359946, 23387169-23387171, 23391912-23391913, 23391916 |
| 364 | COG7 | 16 | 0.99697362732382 | 7 | 2313 | 23415074-23415079, 23415097 |
| 365 | CLN3 | 16 | 0.98025816249051 | 26 | 1317 | 28497675-28497682, 28497687-28497689, 28497703-28497704, 28497707, 28497713-28497716, 28499966, 28499970-28499976 |
| 366 | TUFM | 16 | 0.96783625730994 | 44 | 1368 | 28857321, 28857400-28857402, 28857409-28857415, 28857552-28857583, 28857590 |
| 367 | ATP2A1 | 16 | 0.98569527611444 | 43 | 3006 | 28912097-28912103, 28912112-28912114, 28912118-28912141, 28912146, 28912149-28912156 |
| 368 | CD19 | 16 | 0.99820466786355 | 3 | 1671 | 28948372, 28948376-28948377 |
| 369 | PHKG2 | 16 | 0.92219492219492 | 95 | 1221 | 30760142-30760236 |
| 370 | VKORC1 | 16 | 0.97357723577236 | 13 | 492 | 31105921-31105933 |
| 371 | FUS | 16 | 0.99557242251739 | 7 | 1581 | 31195279, 31195293-31195294, 31195582, 31195591-31195593 |
| 372 | SLC5A2 | 16 | 0.97374938088162 | 53 | 2019 | 31499810-31499811, 31499943-31499951, 31500037, 31500041-31500068, 31500073, 31500444-31500448, 31501752-31501758 |
| 373 | PHKB | 16 | 0.99969530773918 | 1 | 3282 | 47545593 |
| 374 | NOD2 | 16 | 0.9593339737432 | 127 | 3123 | 50733449-50733461, 50733510, 50744754-50744760, 50744990-50745003, 50745219, 50745368, 50745394-50745398, 50745419-50745424, 50745434-50745437, 50745485, 50745490-50745494, 50745519-50745520, 50745809-50745830, 50745839-50745850, 50745861-50745892, 50746184 |
| 375 | CYLD | 16 | 0.99965059399022 | 1 | 2862 | 50785758 |
| 376 | SALL1 | 16 | 0.97685534591195 | 92 | 3975 | 51175418-51175424, 51175456, 51175462-51175465, 51175487, 51175645-51175646, 51175654-51175691, 51175710, 51175714, 51185077-51185113 |
| 377 | RPGRIP1L | 16 | 0.99696048632219 | 12 | 3948 | 53679567-53679570, 53679573, 53679577, 53679581-53679582, 53679630, 53679633-53679635 |
| 378 | MMP2 | 16 | 0.95461422087746 | 90 | 1983 | 55513392-55513450, 55513462-55513488, 55513530-55513533 |
| 379 | SLC12A3 | 16 | 0.99967668929842 | 1 | 3093 | 56921902 |
| 380 | COQ9 | 16 | 0.99895506792059 | 1 | 957 | 57481423 |
| 381 | CNGB1 | 16 | 0.99973375931842 | 1 | 3756 | 57918248 |
| 382 | TK2 | 16 | 0.98701298701299 | 12 | 924 | 66583857-66583859, 66583867, 66583870-66583875, 66583903, 66584014 |
| 383 | HSD11B2 | 16 | 0.69786535303777 | 368 | 1218 | 67465152-67465342, 67465358-67465368, 67465379-67465392, 67465396-67465398, 67469967-67470032, 67470039-67470045, 67470245, 67470248-67470250, 67470270, 67470273, 67470277, 67470284-67470286, 67470289, 67470517-67470544, 67470561-67470567, 67470662, 67470669-67470680, 67470685-67470701 |
| 384 | LCAT | 16 | 0.98790627362056 | 16 | 1323 | 67974108, 67976487, 67976852, 67976879, 67977001-67977004, 67977007, 67977043, 67977110-67977115 |
| 385 | CDH3 | 16 | 0.97710843373494 | 57 | 2490 | 68679551-68679590, 68679616, 68679619-68679620, 68679624-68679637 |
| 386 | CDH1 | 16 | 0.98905247263118 | 29 | 2649 | 68771332-68771337, 68771344-68771359, 68771362-68771365, 68863592-68863594 |
| 387 | COG8 | 16 | 0.92224034801523 | 143 | 1839 | 69364755-69364783, 69364833, 69364856, 69364861, 69364874-69364876, 69373079-69373093, 69373097, 69373107-69373111, 69373118, 69373121-69373125, 69373131-69373135, 69373209-69373245, 69373257-69373286, 69373328, 69373353, 69373387, 69373394-69373395, 69373402-69373403, 69373411, 69373424 |
| 388 | HP | 16 | 0.95986895986896 | 49 | 1221 | 72092153-72092178, 72093014-72093036 |
| 389 | GCSH | 16 | 0.83908045977011 | 84 | 522 | 81129736-81129738, 81129773, 81129789, 81129805-81129883 |
| 390 | GAN | 16 | 0.90635451505017 | 168 | 1794 | 81348719-81348885, 81388218 |
| 391 | MLYCD | 16 | 0.67948717948718 | 475 | 1482 | 83932750-83933204, 83933213, 83933216-83933221, 83933226-83933228, 83933231-83933240 |
| 392 | LRRC50 | 16 | 0.98852157943067 | 25 | 2178 | 84179059-84179061, 84179065-84179068, 84179076, 84179082-84179086, 84179167-84179169, 84199399-84199400, 84199440, 84199443-84199448 |
| 393 | FOXF1 | 16 | 0.65877192982456 | 389 | 1140 | 86544176-86544238, 86544254-86544285, 86544291-86544311, 86544386-86544420, 86544486-86544524, 86544552-86544556, 86544568-86544575, 86544577, 86544583-86544609, 86544621-86544626, 86544663-86544689, 86544700-86544743, 86544786-86544792, 86544855, 86544858-86544866, 86544881, 86544887-86544889, 86544911-86544914, 86544932-86544934, 86544937-86544940, 86544948-86544979, 86544986-86544987, 86544995-86545004, 86545014-86545018 |
| 394 | FOXC2 | 16 | 0.4667994687915 | 803 | 1506 | 86601048, 86601052-86601053, 86601060-86601062, 86601096-86601139, 86601321-86601327, 86601346-86601370, 86601373, 86601386, 86601429-86601465, 86601473-86601522, 86601561-86601562, 86601564-86601568, 86601573-86601577, 86601593-86601596, 86601601-86601607, 86601616-86602203, 86602291, 86602361-86602366, 86602371-86602384 |
| 395 | JPH3 | 16 | 0.85536270583 | 325 | 2247 | 87636856, 87636912-87636925, 87636999-87637005, 87637024-87637052, 87678154-87678157, 87717782, 87717808, 87723268-87723311, 87723333-87723353, 87723375, 87723413-87723414, 87723420-87723425, 87723430-87723445, 87723496-87723499, 87723512-87723515, 87723526-87723532, 87723541-87723586, 87723596, 87723599, 87723610-87723615, 87723621, 87723625, 87723641, 87723644-87723652, 87723656, 87723660-87723668, 87723671-87723673, 87723676-87723683, 87723694-87723695, 87723706-87723709, 87723716, 87723720-87723753, 87723757, 87723763-87723764, 87723983-87724014 |
| 396 | CYBA | 16 | 0.75 | 147 | 588 | 88709770-88709772, 88709775-88709793, 88709803-88709807, 88709810, 88709823, 88709825-88709829, 88709833-88709837, 88709843, 88709851-88709859, 88709878-88709902, 88709932, 88709938-88709955, 88709963-88709976, 88712543, 88712560-88712564, 88712576, 88712585, 88712589, 88712593, 88712597-88712598, 88717369-88717377, 88717383-88717392, 88717399-88717407 |
| 397 | APRT | 16 | 0.95948434622468 | 22 | 543 | 88876227-88876233, 88877978, 88878266, 88878270, 88878273, 88878297-88878307 |
| 398 | GALNS | 16 | 0.91969407265774 | 126 | 1569 | 88884483, 88884486-88884488, 88893166-88893167, 88923166-88923285 |
| 399 | SPG7 | 16 | 0.91247906197655 | 209 | 2388 | 89574826-89575008, 89598350-89598366, 89614500, 89614505-89614511, 89623480 |
| 400 | FANCA | 16 | 0.98237179487179 | 77 | 4368 | 89805047-89805057, 89805063-89805067, 89805071, 89805382, 89833612-89833620, 89842160-89842192, 89842213, 89882945-89882960 |
| 401 | TUBB3 | 16 | 0.92091648189209 | 107 | 1353 | 89989810-89989866, 90001683-90001711, 90001722-90001724, 90001731, 90001736-90001737, 90001789-90001791, 90001795-90001796, 90001800-90001802, 90002018, 90002029-90002030, 90002054-90002056, 90002196 |
| 402 | CTNS | 17 | 0.96758104738155 | 39 | 1203 | 3559791-3559799, 3559852-3559859, 3559980-3559983, 3560029-3560031, 3560041-3560042, 3560050-3560057, 3560072, 3560086-3560089 |
| 403 | CHRNE | 17 | 0.98380566801619 | 24 | 1482 | 4802367-4802386, 4802654, 4804088-4804089, 4804095 |
| 404 | GP1BA | 17 | 0.975 | 48 | 1920 | 4837164, 4837171-4837172, 4837214-4837218, 4837242, 4837459, 4837487, 4837492-4837495, 4837499, 4837505-4837512, 4837531, 4837533-4837538, 4837554, 4837560-4837569, 4837578, 4837582-4837583, 4837586-4837588 |
| 405 | AIPL1 | 17 | 0.99480519480519 | 6 | 1155 | 6330050-6330054, 6330068 |
| 406 | PITPNM3 | 17 | 0.93504273504274 | 190 | 2925 | 6358658-6358660, 6358679-6358685, 6358697-6358740, 6358751-6358755, 6358772-6358786, 6358795-6358801, 6358807-6358813, 6358822-6358824, 6358831-6358845, 6358851-6358862, 6358865-6358866, 6358882-6358889, 6358911-6358950, 6459705-6459726 |
| 407 | ACADVL | 17 | 0.96951219512195 | 60 | 1968 | 7123304-7123305, 7123310-7123323, 7123325-7123343, 7123346-7123351, 7123477-7123478, 7123483-7123488, 7127678, 7127708, 7127811-7127818, 7127821 |
| 408 | CHRNB1 | 17 | 0.97742363877822 | 34 | 1506 | 7348492-7348498, 7348596-7348598, 7348604-7348610, 7348625, 7348710-7348716, 7350213, 7359973-7359980 |
| 409 | MPDU1 | 17 | 0.98252688172043 | 13 | 744 | 7490291-7490295, 7490299-7490306 |
| 410 | GUCY2D | 17 | 0.85235507246377 | 489 | 3312 | 7906366-7906735, 7906748-7906765, 7906768-7906791, 7906826-7906832, 7906842-7906851, 7906854, 7906857, 7906862-7906864, 7906869-7906874, 7906877, 7906915-7906916, 7906954, 7916466-7916467, 7919798-7919840 |
| 411 | ALOX12B | 17 | 0.99192782526116 | 17 | 2106 | 7982770-7982774, 7982779-7982784, 7982790, 7982793-7982796, 7984458 |
| 412 | ALOXE3 | 17 | 0.96020599250936 | 85 | 2136 | 8013234-8013241, 8013244, 8013248-8013249, 8013259-8013265, 8013269-8013270, 8013290-8013320, 8013431, 8013441-8013452, 8013722-8013725, 8013736, 8013749-8013755, 8013764-8013772 |
| 413 | HES7 | 17 | 0.30825958702065 | 469 | 678 | 8024889-8025032, 8025046-8025070, 8025091-8025120, 8025137-8025180, 8025191-8025340, 8025661-8025695, 8025701, 8025707-8025714, 8025717-8025748 |
| 414 | MYH8 | 17 | 0.98847609219126 | 67 | 5814 | 10301902-10301914, 10301918-10301922, 10301928-10301940, 10302100-10302126, 10302156-10302162, 10322066-10322067 |
| 415 | MYH2 | 17 | 0.9989701338826 | 6 | 5826 | 10424682, 10424693-10424696, 10428886 |
| 416 | MYH3 | 17 | 0.98540271337798 | 85 | 5823 | 10534932-10534967, 10535248-10535295, 10549071 |
| 417 | SCO1 | 17 | 0.99889624724062 | 1 | 906 | 10600655 |
| 418 | ELAC2 | 17 | 0.99516324062878 | 12 | 2481 | 12898306-12898309, 12921174-12921176, 12921179-12921183 |
| 419 | COX10 | 17 | 0.98948948948949 | 14 | 1332 | 14095306-14095312, 14095345-14095351 |
| 420 | PMP22 | 17 | 0.96687370600414 | 16 | 483 | 15142828, 15163974-15163975, 15163978-15163979, 15163986, 15164003-15164007, 15164013-15164016, 15164027 |
| 421 | FLCN | 17 | 0.99425287356322 | 10 | 1740 | 17118599-17118600, 17119737-17119744 |
| 422 | RAI1 | 17 | 0.93794791120433 | 355 | 5721 | 17696357-17696401, 17696407-17696427, 17696438-17696467, 17696489, 17696492-17696499, 17696506-17696533, 17696536-17696539, 17696578, 17696596-17696598, 17696727-17696731, 17696783-17696820, 17696827-17696834, 17696944, 17696947, 17697095-17697128, 17697228, 17697237, 17697240, 17697390-17697395, 17697816-17697822, 17698231-17698234, 17698237, 17698654-17698657, 17699243-17699249, 17699262-17699300, 17699509, 17699513-17699530, 17699550-17699556, 17699621-17699623, 17699831-17699844, 17699991-17699995, 17701197, 17701200, 17701243, 17701569-17701572, 17701577 |
| 423 | ATPAF2 | 17 | 0.99540229885057 | 4 | 870 | 17942283, 17942304-17942306 |
| 424 | MYO15A | 17 | 0.90956291890871 | 958 | 10593 | 18022473-18022479, 18022482, 18023739-18023783, 18023828, 18023869-18023884, 18023891-18023932, 18023984-18023988, 18023994-18023997, 18024013-18024026, 18024030-18024078, 18024083-18024086, 18024089, 18024091, 18024096-18024098, 18024111-18024112, 18024115-18024116, 18024130-18024697, 18024705-18024716, 18024735-18024745, 18024752, 18024756-18024760, 18024774, 18024784-18024789, 18024794-18024800, 18024819, 18024891, 18024905, 18025021, 18025034-18025055, 18052664-18052668, 18054807-18054809, 18054841, 18057089-18057149, 18057155, 18057167, 18057173-18057178, 18057183, 18057188-18057193, 18057202, 18057205-18057210, 18061095-18061102, 18061140-18061142, 18061171-18061173, 18070932-18070934, 18070946, 18070950-18070955, 18070961-18070963, 18070967, 18070979-18070980, 18070983, 18071013 |
| 425 | ALDH3A2 | 17 | 0.99738048461035 | 4 | 1527 | 19552358, 19552361, 19552364-19552365 |
| 426 | UNC119 | 17 | 0.69571230982019 | 220 | 723 | 26879356-26879575 |
| 427 | NF1 | 17 | 0.9881455399061 | 101 | 8520 | 29422328-29422387, 29546054, 29546074, 29546098-29546127, 29586072-29586077, 29586085-29586087 |
| 428 | HNF1B | 17 | 0.96535244922342 | 58 | 1674 | 36104653-36104662, 36104668, 36104716-36104719, 36104756, 36104818-36104821, 36104829-36104855, 36104861-36104871 |
| 429 | TCAP | 17 | 0.95833333333333 | 21 | 504 | 37821710-37821712, 37822049, 37822081-37822083, 37822108-37822120, 37822226 |
| 430 | KRT10 | 17 | 0.80683760683761 | 339 | 1755 | 38975082-38975400, 38978747-38978750, 38978760-38978768, 38978787-38978793 |
| 431 | KRT13 | 17 | 0.99273783587509 | 10 | 1377 | 39657971-39657972, 39659641-39659648 |
| 432 | KRT9 | 17 | 0.99732905982906 | 5 | 1872 | 39728143-39728145, 39728201, 39728207 |
| 433 | KRT14 | 17 | 0.95771670190275 | 60 | 1419 | 39739551, 39739557-39739558, 39739576-39739580, 39739589, 39739592, 39739597-39739598, 39739601, 39739604, 39742894, 39742898-39742899, 39742961-39743003 |
| 434 | KRT16 | 17 | 0.96976090014065 | 43 | 1422 | 39766196-39766202, 39766265-39766281, 39768490-39768496, 39768814, 39768819, 39768827, 39768851-39768859 |
| 435 | KRT17 | 17 | 0.94688221709007 | 69 | 1299 | 39776978-39776998, 39777001, 39777025, 39777028-39777029, 39777090, 39780437, 39780526, 39780555-39780595 |
| 436 | JUP | 17 | 0.98927613941019 | 24 | 2238 | 39915028, 39915041-39915049, 39915057, 39925376-39925388 |
| 437 | FKBP10 | 17 | 0.99942824471126 | 1 | 1749 | 39969385 |
| 438 | STAT5B | 17 | 0.98561759729272 | 34 | 2364 | 40370281, 40370290, 40370850, 40371359-40371363, 40371368-40371380, 40371386-40371395, 40371748-40371750 |
| 439 | NAGLU | 17 | 0.87634408602151 | 276 | 2232 | 40688343-40688352, 40688365-40688627, 40688655, 40688668, 40688672 |
| 440 | WNK4 | 17 | 0.95016077170418 | 186 | 3732 | 40932717-40932756, 40932766-40932797, 40932806-40932863, 40932872-40932899, 40932906-40932923, 40932964, 40933110-40933112, 40937413, 40937415-40937418, 40947495 |
| 441 | BRCA1 | 17 | 0.99964633068081 | 2 | 5655 | 41228612, 41228615 |
| 442 | SOST | 17 | 0.73208722741433 | 172 | 642 | 41832760-41832792, 41832794, 41832814, 41832821-41832823, 41832853-41832856, 41832859, 41832877-41832880, 41832883, 41832886, 41832889-41832952, 41832975, 41832984-41832995, 41833014-41833016, 41833029-41833071 |
| 443 | NAGS | 17 | 0.79252336448598 | 333 | 1605 | 42082032-42082182, 42082197-42082246, 42082281, 42082284, 42082293-42082345, 42082392-42082398, 42082414, 42082443-42082444, 42082456-42082457, 42083092, 42083212, 42083261, 42083474, 42083480, 42083486-42083489, 42083493, 42083498, 42083529-42083531, 42083537-42083558, 42083586, 42083997, 42084027-42084051, 42084066-42084067 |
| 444 | SLC4A1 | 17 | 0.99817251461988 | 5 | 2736 | 42328572, 42335095, 42335099, 42335116, 42335119 |
| 445 | GRN | 17 | 0.91077441077441 | 159 | 1782 | 42427823-42427828, 42427834-42427835, 42427838, 42427844, 42428072, 42428148-42428168, 42429415-42429416, 42429425-42429426, 42429497, 42429503, 42429557-42429572, 42429582-42429593, 42429714-42429718, 42429728-42429734, 42429737-42429738, 42429833-42429834, 42429863-42429873, 42429889-42429899, 42429909-42429910, 42429920-42429923, 42429928-42429939, 42430046-42430078, 42430105, 42430118-42430120 |
| 446 | ITGA2B | 17 | 0.97692307692308 | 72 | 3120 | 42452376-42452377, 42452403-42452430, 42452443-42452476, 42457487, 42460948-42460949, 42460955-42460956, 42463079, 42463212, 42463215 |
| 447 | PLEKHM1 | 17 | 0.99779249448124 | 7 | 3171 | 43515305-43515309, 43531203, 43552966 |
| 448 | MAPT | 17 | 0.99399399399399 | 14 | 2331 | 44061046-44061050, 44061166, 44061169, 44061174-44061180 |
| 449 | WNT3 | 17 | 0.94101123595506 | 63 | 1068 | 44847365-44847367, 44851071-44851090, 44851096, 44851112-44851114, 44851138-44851144, 44851197-44851207, 44851214, 44851217, 44851245-44851251, 44851257-44851260, 44895919-44895923 |
| 450 | ITGB3 | 17 | 0.97422898183354 | 61 | 2367 | 45331228-45331286, 45369777, 45369789 |
| 451 | SGCA | 17 | 0.99742268041237 | 3 | 1164 | 48247629, 48247651-48247652 |
| 452 | COL1A1 | 17 | 0.97679180887372 | 102 | 4395 | 48265495, 48265936-48265939, 48265949-48265951, 48272953, 48272964, 48272998-48273009, 48273709-48273711, 48276685-48276688, 48276779-48276814, 48276919-48276944, 48277121, 48277124, 48277281, 48277284-48277291 |
| 453 | NOG | 17 | 0.75107296137339 | 174 | 699 | 54671594-54671605, 54671615-54671616, 54671634-54671666, 54671739-54671795, 54671842, 54671849-54671852, 54671856-54671857, 54671860, 54671881-54671920, 54672069, 54672162-54672167, 54672186, 54672189-54672193, 54672211, 54672222-54672226, 54672229, 54672232, 54672235 |
| 454 | TRIM37 | 17 | 0.98411053540587 | 46 | 2895 | 57105900-57105936, 57119191-57119192, 57158527-57158531, 57158545-57158546 |
| 455 | AP1S2 | 17 | 0.90705128205128 | 58 | 624 | 58179914-58179916, 58180036-58180037, 58180040-58180085, 58180089-58180095 |
| 456 | CA4 | 17 | 0.93929712460064 | 57 | 939 | 58227396-58227428, 58227432-58227442, 58236676-58236681, 58236702, 58236706, 58236734-58236736, 58236744-58236745 |
| 457 | TBX4 | 17 | 0.94383394383394 | 92 | 1638 | 59533892-59533932, 59533942-59533980, 59534004-59534005, 59534009-59534015, 59534019-59534020, 59534025 |
| 458 | BRIP1 | 17 | 0.99306666666667 | 26 | 3750 | 59793318-59793322, 59793327-59793335, 59821931-59821942 |
| 459 | ACE | 17 | 0.92042846212701 | 312 | 3921 | 61554456-61554704, 61555450, 61555453, 61561729-61561730, 61574167, 61574531-61574534, 61574555-61574594, 61574599-61574608, 61574610-61574611, 61574649-61574650 |
| 460 | SCN4A | 17 | 0.99510070767556 | 27 | 5511 | 62026110, 62026114, 62038713-62038714, 62038720, 62038737, 62038739, 62038742-62038747, 62038750-62038751, 62038762-62038764, 62038771, 62038776-62038781, 62038786, 62050201 |
| 461 | AXIN2 | 17 | 0.98657187993681 | 34 | 2532 | 63533094-63533100, 63533118-63533138, 63533695-63533696, 63534335-63534337, 63534343 |
| 462 | SOX9 | 17 | 0.87581699346405 | 190 | 1530 | 70117617-70117634, 70117830-70117841, 70117943-70117947, 70117957, 70118871, 70119735-70119736, 70119741, 70119751, 70119767-70119771, 70119810-70119812, 70119827, 70119923, 70119929, 70119961, 70119963-70119970, 70119974-70119975, 70119983, 70119985-70120071, 70120078-70120079, 70120084, 70120087-70120091, 70120095-70120097, 70120101, 70120110-70120112, 70120122-70120140, 70120144-70120148 |
| 463 | COG1 | 17 | 0.89738362215426 | 302 | 2943 | 71189209-71189450, 71189459-71189502, 71189508-71189523 |
| 464 | DNAI2 | 17 | 0.98734873487349 | 23 | 1818 | 72306178, 72306183, 72306198, 72306201-72306204, 72306215-72306229, 72306245 |
| 465 | USH1G | 17 | 0.98917748917749 | 15 | 1386 | 72915568-72915576, 72915628, 72915633, 72916497-72916499, 72916502 |
| 466 | TSEN54 | 17 | 0.84882985452245 | 239 | 1581 | 73512642-73512697, 73512827-73512862, 73512880, 73512883-73512889, 73512897-73512911, 73512914, 73512920-73512924, 73512933-73512938, 73512944-73512952, 73512960-73512970, 73512976-73512981, 73513148, 73518284, 73518318-73518357, 73518365-73518408 |
| 467 | ITGB4 | 17 | 0.96050466264399 | 216 | 5469 | 73726329, 73726331-73726339, 73726973-73726978, 73726983, 73727029-73727045, 73727361-73727384, 73727430, 73733695-73733696, 73733704-73733706, 73733720, 73736514-73736517, 73738783-73738786, 73738789-73738791, 73749846-73749853, 73749865-73749887, 73749926, 73749932-73749934, 73749940, 73749943-73749954, 73749959, 73749962-73749971, 73749973-73749974, 73749977-73750000, 73750008, 73750019, 73750022-73750028, 73750033, 73750038-73750055, 73751841-73751842, 73751854-73751868, 73751872-73751880, 73751889 |
| 468 | GALK1 | 17 | 0.95080576759966 | 58 | 1179 | 73754320-73754326, 73754589-73754602, 73759177-73759179, 73759183, 73760072, 73761136, 73761140, 73761157, 73761161, 73761164-73761187, 73761192, 73761198-73761200 |
| 469 | UNC13D | 17 | 0.96639168958142 | 110 | 3273 | 73824155, 73824161, 73825057-73825064, 73826466-73826467, 73826477, 73826493-73826494, 73826499-73826502, 73827205, 73827387-73827392, 73827403, 73827411, 73830451, 73830758, 73831101, 73831506-73831523, 73831826-73831827, 73836023, 73836153, 73839122-73839128, 73839137, 73839140-73839141, 73839240-73839265, 73839565-73839585 |
| 470 | SEPT9 | 17 | 0.92277115275412 | 136 | 1761 | 75494605-75494740 |
| 471 | GAA | 17 | 0.99055613850997 | 27 | 2859 | 78078562-78078565, 78078706-78078709, 78078718, 78083772-78083775, 78084769, 78086449-78086455, 78086498-78086501, 78086681, 78086723 |
| 472 | SGSH | 17 | 0.94565937707091 | 82 | 1509 | 78190853-78190854, 78194033-78194112 |
| 473 | ACTG1 | 17 | 0.9991134751773 | 1 | 1128 | 79478512 |
| 474 | FSCN2 | 17 | 0.81947261663286 | 267 | 1479 | 79495728, 79495736, 79495739-79495768, 79495782-79495827, 79495872-79495879, 79495970-79495971, 79495974-79495975, 79496141-79496148, 79496185-79496192, 79503908, 79503947-79504106 |
| 475 | NDUFV2 | 18 | 0.984 | 12 | 750 | 9102753, 9102756, 9102759-9102760, 9102763-9102764, 9102768, 9102771-9102774, 9119531 |
| 476 | AFG3L2 | 18 | 0.94736842105263 | 126 | 2394 | 12358869, 12358925-12358935, 12376968-12377081 |
| 477 | MC2R | 18 | 0.99888143176734 | 1 | 894 | 13884691 |
| 478 | NPC1 | 18 | 0.99765441751368 | 9 | 3837 | 21124924-21124925, 21124936-21124938, 21136548, 21166282, 21166300-21166301 |
| 479 | LAMA3 | 18 | 0.9872025594881 | 128 | 10002 | 21269648-21269725, 21269733-21269778, 21269828, 21269832-21269833, 21269940 |
| 480 | DSC3 | 18 | 0.97918989223337 | 56 | 2691 | 28574192-28574195, 28622575-28622626 |
| 481 | DSC2 | 18 | 0.98373983739837 | 44 | 2706 | 28681874-28681875, 28681879-28681884, 28681887-28681922 |
| 482 | DSG2 | 18 | 0.98748882931189 | 42 | 3357 | 29078215-29078256 |
| 483 | LOXHD1 | 18 | 0.98161543098252 | 122 | 6636 | 44089682, 44126858-44126926, 44126969-44126972, 44126980-44126987, 44126991, 44126996, 44127010, 44127013-44127014, 44140208, 44140243-44140245, 44140309-44140332, 44181285-44181291 |
| 484 | MYO5B | 18 | 0.99819722372454 | 10 | 5547 | 47421397-47421398, 47421412, 47421419-47421420, 47721145-47721148, 47721163 |
| 485 | SMAD4 | 18 | 0.97347799879445 | 44 | 1659 | 48593464-48593468, 48593471, 48593527, 48603057-48603093 |
| 486 | TCF4 | 18 | 0.9985119047619 | 3 | 2016 | 52946805-52946807 |
| 487 | FECH | 18 | 0.96666666666667 | 43 | 1290 | 55253790-55253812, 55253814-55253825, 55253827, 55253830, 55253843-55253844, 55253848-55253851 |
| 488 | ATP8B1 | 18 | 0.99414270500532 | 22 | 3756 | 55315776, 55315779-55315782, 55315861-55315864, 55315872, 55328518, 55328538-55328545, 55328688, 55328692, 55398936 |
| 489 | RAX | 18 | 0.70220941402498 | 310 | 1041 | 56936287-56936333, 56936351-56936362, 56936380-56936384, 56936395, 56936401, 56936407-56936421, 56936443-56936545, 56936550, 56936554-56936558, 56936563-56936573, 56936591-56936629, 56936638-56936647, 56936651, 56940150-56940190, 56940231-56940239, 56940368, 56940374-56940375, 56940391-56940393, 56940419-56940421 |
| 490 | LMAN1 | 18 | 0.98825831702544 | 18 | 1533 | 57026359-57026361, 57026447-57026461 |
| 491 | CCBE1 | 18 | 0.98771498771499 | 15 | 1221 | 57134042, 57134060-57134066, 57134070, 57364548, 57364553-57364557 |
| 492 | TNFRSF11A | 18 | 0.92490545650999 | 139 | 1851 | 59992586-59992660, 60021671, 60021674, 60021741, 60021744, 60021759-60021762, 60051984, 60052026, 60052091-60052104, 60052117-60052123, 60052157-60052162, 60052182-60052185, 60052191-60052213 |
| 493 | CTDP1 | 18 | 0.90713790713791 | 268 | 2886 | 77439948-77439952, 77439957, 77439962-77439968, 77439973, 77439986-77440212, 77440228, 77440231, 77440261, 77474680-77474686, 77474765, 77474768, 77475188-77475190, 77477959-77477960, 77477963-77477967, 77496392-77496393, 77496466-77496468 |
| 494 | ELANE | 19 | 0.75248756218905 | 199 | 804 | 852878-852931, 852954, 853262-853403, 855775, 855782 |
| 495 | KISS1R | 19 | 0.36340852130326 | 762 | 1197 | 917503-917574, 917580-917590, 917595-917598, 917609-917617, 917620-917621, 917635, 917640-917650, 917657-917667, 917670, 917673-917678, 917686-917731, 918544-918577, 918589-918618, 918630-918668, 919595, 919883, 919907-919940, 919971, 919975-919994, 920071-920100, 920290-920621, 920642, 920645-920650, 920670-920673, 920683-920686, 920698-920748 |
| 496 | STK11 | 19 | 0.99078341013825 | 12 | 1302 | 1207020-1207023, 1220610-1220611, 1220635-1220637, 1220700-1220701, 1221320 |
| 497 | NDUFS7 | 19 | 0.97663551401869 | 15 | 642 | 1388548-1388556, 1388571, 1395429, 1395484-1395487 |
| 498 | GAMT | 19 | 0.90246913580247 | 79 | 810 | 1399902, 1399934, 1401307-1401320, 1401337, 1401352, 1401394-1401401, 1401404-1401408, 1401412-1401416, 1401425, 1401427, 1401435-1401475 |
| 499 | RAX2 | 19 | 0.65585585585586 | 191 | 555 | 3770619-3770625, 3770643-3770659, 3770668-3770770, 3770777-3770791, 3770902-3770933, 3770941-3770957 |
| 500 | MAP2K2 | 19 | 0.90856192851205 | 110 | 1203 | 4099199-4099210, 4099220-4099224, 4102376, 4123781-4123872 |
| 501 | NDUFA11 | 19 | 0.9906103286385 | 4 | 426 | 5896485, 5896492, 5896960-5896961 |
| 502 | TUBB4 | 19 | 0.95205992509363 | 64 | 1335 | 6495439-6495450, 6495455-6495457, 6495463, 6495479, 6495565-6495570, 6495587-6495591, 6495603-6495606, 6495619, 6495627-6495650, 6495753-6495754, 6495762, 6495765, 6502199, 6502209-6502210 |
| 503 | C3 | 19 | 0.97696314102564 | 115 | 4992 | 6696616, 6707087-6707149, 6707171-6707180, 6707204-6707211, 6707230, 6707233-6707239, 6707281, 6707284, 6709704, 6709821-6709824, 6709827-6709828, 6709846-6709853, 6714034, 6714184-6714190 |
| 504 | INSR | 19 | 0.96625692938057 | 140 | 4149 | 7142844, 7184440-7184446, 7184495-7184498, 7184502, 7184536-7184566, 7184601-7184607, 7293808-7293814, 7293821-7293902 |
| 505 | MCOLN1 | 19 | 0.99024670109007 | 17 | 1743 | 7587652, 7595257, 7595263-7595266, 7598503-7598512, 7598675 |
| 506 | PNPLA6 | 19 | 0.98544176706827 | 58 | 3984 | 7606870-7606875, 7607449, 7607466, 7615900-7615901, 7615912-7615916, 7615934-7615936, 7615939-7615940, 7615943, 7615984-7615993, 7616281, 7616284-7616294, 7619525-7619530, 7619848-7619851, 7619946-7619948, 7620199, 7620607 |
| 507 | STXBP2 | 19 | 0.97755331088664 | 40 | 1782 | 7702036-7702057, 7706933-7706937, 7706963-7706965, 7709514, 7710181, 7710184-7710186, 7711138, 7711153-7711155, 7712127 |
| 508 | ADAMTS10 | 19 | 0.94504830917874 | 182 | 3312 | 8645786-8645788, 8649812, 8649888-8649927, 8650016-8650019, 8650025, 8650028-8650035, 8650062-8650066, 8650069, 8650090-8650110, 8650119-8650124, 8650143, 8650175-8650176, 8650363, 8650392, 8650446, 8650452-8650458, 8650465, 8650468-8650493, 8650509-8650510, 8654147-8654149, 8654217-8654221, 8654234-8654240, 8654429-8654444, 8654461-8654469, 8656906, 8670106-8670112, 8670115, 8670170 |
| 509 | TYK2 | 19 | 0.96717171717172 | 117 | 3564 | 10463180, 10463602-10463638, 10463651-10463670, 10463681, 10463720-10463745, 10463755-10463757, 10463760, 10464217, 10475290-10475311, 10476388-10476390, 10476394-10476395 |
| 510 | DNM2 | 19 | 0.92652123995408 | 192 | 2613 | 10828919-10829079, 10939712-10939719, 10940865-10940868, 10940872-10940873, 10940879-10940891, 10940915-10940916, 10941675-10941676 |
| 511 | LDLR | 19 | 0.99961285327139 | 1 | 2583 | 11200275 |
| 512 | PRKCSH | 19 | 0.98172652804033 | 29 | 1587 | 11557101, 11557943, 11558264-11558266, 11558275, 11558343-11558354, 11558510-11558516, 11558519, 11558524-11558526 |
| 513 | MAN2B1 | 19 | 0.94762845849802 | 159 | 3036 | 12758085, 12758347-12758348, 12758351, 12758355-12758359, 12758366, 12758383-12758390, 12758403, 12758411-12758412, 12758989-12758994, 12759000-12759035, 12759062-12759074, 12759084, 12759088, 12759092-12759100, 12759141-12759148, 12759154-12759155, 12766585-12766586, 12767797, 12767853-12767855, 12767859-12767861, 12767865-12767870, 12768262, 12768265, 12768269-12768276, 12768280, 12768287-12768311, 12768329, 12768332-12768338, 12777455-12777457 |
| 514 | GCDH | 19 | 0.99316628701595 | 9 | 1317 | 13002151-13002159 |
| 515 | CACNA1A | 19 | 0.82462438505518 | 1319 | 7521 | 13318176-13318178, 13318182, 13318187, 13318190-13318197, 13318208-13318213, 13318234-13318867, 13319599-13319608, 13319619-13319625, 13319628-13319637, 13319692-13319694, 13320173-13320175, 13320182-13320183, 13409358-13409371, 13409404-13409448, 13409457-13409665, 13409799-13409804, 13409809, 13409814-13409817, 13409824, 13409828-13409834, 13409842-13409846, 13409857-13409902, 13616746-13617038 |
| 516 | NOTCH3 | 19 | 0.88386448463968 | 809 | 6966 | 15271517-15271519, 15271867-15271870, 15271882, 15271938-15271939, 15271944-15271951, 15271979-15271980, 15271991, 15272003, 15272010, 15272020-15272023, 15272040, 15272045, 15272064-15272065, 15272068, 15272082-15272139, 15272157, 15272184, 15272191, 15272203-15272209, 15272212-15272222, 15272225-15272227, 15272267-15272269, 15272273, 15272277, 15272319-15272350, 15272473, 15272487, 15272503, 15280920, 15281152-15281186, 15281195-15281203, 15281249-15281255, 15281304-15281351, 15281482-15281506, 15281525-15281527, 15281545, 15281552-15281554, 15281578-15281583, 15281594, 15285079-15285096, 15285102, 15285109-15285111, 15288360, 15288415, 15288449-15288461, 15288533-15288868, 15288878-15288883, 15288888, 15288892-15288901, 15295723-15295726, 15296127-15296131, 15296140, 15296182, 15296189, 15296193, 15296197, 15296200, 15311606-15311716 |
| 517 | CYP4F22 | 19 | 0.97744360902256 | 36 | 1596 | 15636313-15636348 |
| 518 | JAK3 | 19 | 0.93866666666667 | 207 | 3375 | 17940923-17940924, 17940929-17940931, 17940947, 17940954-17940965, 17940971-17940982, 17940984, 17940993-17940998, 17941003-17941006, 17941024-17941027, 17941312-17941371, 17941380-17941385, 17941395-17941399, 17942143, 17942155, 17942162, 17942166, 17942181-17942185, 17942193, 17942196-17942202, 17942534-17942537, 17942542-17942545, 17945480, 17945486, 17945494-17945504, 17950361-17950364, 17950368-17950369, 17950383-17950386, 17953175, 17953187, 17953190, 17953193, 17953213, 17953225-17953231, 17953234-17953238, 17953242, 17953255, 17953299-17953301, 17953304-17953307, 17953310, 17953318, 17953321, 17953324, 17953331-17953342, 17953883 |
| 519 | SLC5A5 | 19 | 0.97360248447205 | 51 | 1932 | 17983279, 17983283, 17984965, 17984971-17984985, 17984987-17984993, 17984996-17985000, 17986771-17986777, 17994524-17994526, 17994686-17994689, 17994692-17994693, 17999152, 17999158-17999161 |
| 520 | IL12RB1 | 19 | 0.99949723479135 | 1 | 1989 | 18191791 |
| 521 | COMP | 19 | 0.79375549692172 | 469 | 2274 | 18896500-18896539, 18896555-18896557, 18896572, 18898300-18898305, 18899049-18899088, 18899122, 18899125, 18899225-18899252, 18899256-18899264, 18899274-18899281, 18899297-18899314, 18899322-18899323, 18899401-18899405, 18899411-18899490, 18899493-18899499, 18899502-18899504, 18899513, 18899516, 18900016-18900053, 18900078, 18900751-18900890, 18900901-18900923, 18901371-18901377, 18901660, 18901675-18901679 |
| 522 | SLC7A9 | 19 | 0.99931693989071 | 1 | 1464 | 33350756 |
| 523 | CEBPA | 19 | 0.24883936861653 | 809 | 1077 | 33792327-33792330, 33792344-33792350, 33792428, 33792513-33792552, 33792564-33793320 |
| 524 | SCN1B | 19 | 0.95043370508055 | 40 | 807 | 35521725-35521764 |
| 525 | MAG | 19 | 0.9766081871345 | 44 | 1881 | 35790591, 35790624, 35790646-35790649, 35790664, 35790732-35790753, 35791082-35791088, 35791124, 35791127, 35791130, 35791140-35791144 |
| 526 | PRODH2 | 19 | 0.97579143389199 | 39 | 1611 | 36297711-36297712, 36297943-36297969, 36303098-36303099, 36303286-36303291, 36303317, 36303320 |
| 527 | NPHS1 | 19 | 0.96511003757381 | 130 | 3726 | 36326635-36326644, 36336313-36336314, 36336391, 36336416, 36336430, 36336434, 36336598, 36336615, 36336620-36336622, 36336627-36336674, 36336679-36336686, 36336699, 36336910-36336921, 36337044-36337053, 36337057-36337064, 36337067-36337069, 36337074-36337088, 36339568, 36339571-36339572, 36339577 |
| 528 | TYROBP | 19 | 0.89380530973451 | 36 | 339 | 36398363, 36398370-36398371, 36398451-36398482, 36399105 |
| 529 | SDHAF1 | 19 | 0.78448275862069 | 75 | 348 | 36486183, 36486198-36486213, 36486233-36486235, 36486242, 36486266-36486267, 36486271, 36486309, 36486314, 36486319, 36486340-36486351, 36486369-36486373, 36486398-36486427, 36486445 |
| 530 | WDR62 | 19 | 0.99650043744532 | 16 | 4572 | 36546023, 36577610-36577611, 36590346, 36595746-36595752, 36595755, 36595758-36595761 |
| 531 | RYR1 | 19 | 0.94886551564464 | 773 | 15117 | 38931385-38931404, 38931419, 38931440, 38931451, 38931501-38931502, 38943630-38943635, 38943639, 38943647, 38954152-38954157, 38955279-38955283, 38955286-38955291, 38956839, 38956886, 38956897, 38956906-38956909, 38956922, 38956925, 38976311-38976312, 38976367, 38976394, 38976420-38976426, 38976645, 38976651-38976664, 38976669, 38976711-38976715, 38976768, 38976780-38976786, 38985109, 38987509-38987512, 38987522-38987524, 38987527-38987530, 38990346-38990348, 38990453, 38990610-38990612, 38991280, 38993167-38993168, 38993175-38993176, 38993179, 38993208-38993210, 38993351-38993366, 38997475, 38997484-38997487, 38997504-38997505, 38998395-38998421, 38998425-38998434, 38998457, 39006767, 39008208-39008212, 39008215-39008217, 39008220, 39008233, 39008306-39008309, 39008317-39008319, 39013668-39013674, 39018337-39018340, 39034064-39034065, 39037085-39037106, 39037112-39037123, 39055616-39055625, 39055713-39055714, 39055723-39056178, 39056197-39056203, 39056209-39056210, 39056213-39056225, 39056228, 39056275, 39056288-39056295, 39056297-39056306, 39056309-39056310, 39056316-39056321, 39056353, 39075738 |
| 532 | ACTN4 | 19 | 0.97222222222222 | 76 | 2736 | 39138430, 39138435, 39138442, 39138483-39138484, 39138495, 39138502-39138520, 39138524, 39138541-39138547, 39214257, 39214632, 39214649, 39214665, 39214842-39214861, 39214871, 39214874-39214879, 39214882, 39214896, 39214899-39214900, 39216460-39216464, 39216467-39216468, 39219954 |
| 533 | DLL3 | 19 | 0.74959612277868 | 465 | 1857 | 39989848-39989856, 39993456-39993519, 39993526-39993681, 39993688-39993694, 39997795-39997921, 39997942-39997943, 39997946-39997951, 39997997-39998045, 39998051-39998068, 39998094-39998098, 39998134-39998144, 39998150-39998154, 39998236-39998241 |
| 534 | PRX | 19 | 0.96010031919745 | 175 | 4386 | 40900648-40900686, 40901098-40901119, 40901303-40901331, 40901604, 40901614, 40903426-40903431, 40904544, 40909625-40909653, 40909686-40909688, 40909706-40909725, 40909746-40909769 |
| 535 | TGFB1 | 19 | 0.91133844842285 | 104 | 1173 | 41837010-41837012, 41837019, 41837024, 41837034-41837045, 41837049-41837068, 41837106-41837109, 41837114, 41854231-41854234, 41858681, 41858684, 41858739-41858744, 41858767-41858770, 41858776-41858800, 41858868, 41858919-41858937, 41858949 |
| 536 | BCKDHA | 19 | 0.99850523168909 | 2 | 1338 | 41916562, 41929074 |
| 537 | ATP1A3 | 19 | 0.91952147906471 | 296 | 3678 | 42471033-42471034, 42471040, 42471045-42471052, 42471079-42471085, 42471091-42471120, 42471154-42471160, 42471163, 42471169, 42471172-42471212, 42471307-42471310, 42471313, 42471318, 42471320-42471393, 42471419-42471420, 42471436-42471437, 42480574-42480635, 42480642-42480648, 42480651, 42480655, 42480671-42480693, 42480698, 42480702-42480709, 42489259, 42489263-42489264, 42489326, 42492095, 42498223-42498228 |
| 538 | ETHE1 | 19 | 0.95424836601307 | 35 | 765 | 44012096-44012097, 44012147, 44031259-44031290 |
| 539 | BCAM | 19 | 0.92103868574457 | 149 | 1887 | 45312382-45312407, 45312421-45312442, 45314509-45314511, 45315436, 45315439, 45321861-45321868, 45323962-45323985, 45323991-45323995, 45324014-45324024, 45324029-45324040, 45324043-45324044, 45324046-45324073, 45324173-45324178 |
| 540 | APOE | 19 | 0.68867924528302 | 297 | 954 | 45411797, 45411801-45411804, 45411875-45411880, 45411904-45411931, 45411934-45411946, 45411961-45412023, 45412029-45412046, 45412068-45412071, 45412073-45412083, 45412101-45412111, 45412114-45412115, 45412117-45412127, 45412129, 45412134, 45412147-45412154, 45412157, 45412162, 45412173-45412175, 45412177-45412178, 45412183-45412189, 45412191-45412249, 45412255-45412256, 45412260, 45412332, 45412338-45412354, 45412371-45412379, 45412411-45412413, 45412416-45412422, 45412427, 45412433 |
| 541 | BLOC1S3 | 19 | 0.44170771756979 | 340 | 609 | 45682581, 45682585, 45682589, 45682695-45682715, 45682744, 45682749-45682784, 45682792, 45682795-45682801, 45682821-45683077, 45683085-45683097, 45683108 |
| 542 | ERCC2 | 19 | 0.94656154183092 | 122 | 2283 | 45856390-45856394, 45856397, 45867001-45867009, 45867026, 45867029-45867034, 45867058-45867059, 45867064, 45867086, 45867114-45867117, 45867141-45867169, 45867279-45867321, 45867350-45867363, 45873464, 45873475, 45873490, 45873796-45873798 |
| 543 | OPA3 | 19 | 0.99447513812155 | 3 | 543 | 46032420, 46032424, 46032627 |
| 544 | SIX5 | 19 | 0.72972972972973 | 600 | 2220 | 46269219-46269222, 46269227-46269231, 46269311-46269315, 46269922-46269929, 46270012-46270013, 46270139, 46270142-46270144, 46270154-46270155, 46270160-46270165, 46270194-46270195, 46271300-46271315, 46271419-46271436, 46271447-46271475, 46271561-46271623, 46271634-46271676, 46271710-46272102 |
| 545 | DMPK | 19 | 0.8957671957672 | 197 | 1890 | 46273755-46273758, 46273761, 46273790, 46273810, 46273830, 46274260-46274264, 46274271-46274304, 46285461-46285610 |
| 546 | FKRP | 19 | 0.60215053763441 | 592 | 1488 | 47258713, 47258738, 47258742, 47258772-47258778, 47258813-47258833, 47258840, 47258842, 47258901-47258907, 47258973-47258974, 47259039-47259052, 47259055, 47259062-47259067, 47259073, 47259081, 47259090-47259096, 47259109, 47259121-47259123, 47259128-47259134, 47259144-47259201, 47259215-47259529, 47259536-47259538, 47259546, 47259549, 47259578-47259579, 47259594, 47259599, 47259612-47259630, 47259633-47259686, 47259697, 47259713-47259716, 47259721-47259723, 47259728-47259735, 47259748-47259766, 47259826-47259830, 47260051, 47260063-47260070, 47260104-47260106, 47260109-47260110 |
| 547 | CRX | 19 | 0.98666666666667 | 12 | 900 | 48342662-48342673 |
| 548 | DBP | 19 | 0.6799591002045 | 313 | 978 | 49138837-49139021, 49139031, 49139037-49139038, 49139042-49139045, 49139049-49139054, 49139057-49139096, 49139108-49139109, 49139120-49139125, 49139133-49139138, 49139149, 49139155-49139159, 49139220-49139243, 49140183-49140213 |
| 549 | FTL | 19 | 0.99621212121212 | 2 | 528 | 49469119-49469120 |
| 550 | GYS1 | 19 | 0.99638663053297 | 8 | 2214 | 49472673-49472680 |
| 551 | MED25 | 19 | 0.94607843137255 | 121 | 2244 | 50321624-50321625, 50321628-50321632, 50321701-50321707, 50332239-50332241, 50333121-50333136, 50333149-50333177, 50333359-50333365, 50333775-50333785, 50333834, 50334102-50334109, 50334114-50334116, 50334126-50334133, 50334644-50334645, 50335399, 50335411-50335413, 50338430, 50339492-50339494, 50339526, 50339529-50339530, 50339536-50339538, 50339544-50339546, 50339559, 50339562 |
| 552 | PNKP | 19 | 0.87292464878672 | 199 | 1566 | 50364505-50364515, 50364608, 50364865-50364885, 50364925, 50364928, 50365029-50365033, 50365128-50365138, 50365331, 50365496-50365538, 50365628-50365645, 50365814-50365815, 50365826-50365832, 50365834, 50365841-50365865, 50365947-50365995, 50370354-50370355 |
| 553 | MYH14 | 19 | 0.9662902961872 | 206 | 6111 | 50713642-50713648, 50713662, 50713667-50713678, 50713683-50713686, 50713711-50713712, 50713725-50713731, 50713734-50713741, 50713747-50713748, 50713752-50713754, 50713792, 50713891-50713899, 50713951, 50713955, 50713959-50713962, 50714015, 50714027, 50733800, 50733848, 50762411-50762429, 50762432, 50762435-50762441, 50764885-50764891, 50770147, 50770214-50770256, 50780116-50780157, 50781400-50781407, 50789897-50789901, 50796512, 50796515, 50796924, 50796931-50796933, 50812940 |
| 554 | KCNC3 | 19 | 0.53518029903254 | 1057 | 2274 | 50823503-50823600, 50823850-50823852, 50823858, 50823954, 50823999-50824034, 50826261, 50826264, 50826272, 50826349-50826353, 50826360-50826361, 50826366-50826368, 50826374-50826384, 50826405, 50826411-50826423, 50826428, 50826438-50826441, 50826447-50826451, 50826457, 50826459-50826460, 50826539-50826540, 50826554, 50826560-50826562, 50831474-50832079, 50832085-50832339 |
| 555 | KLK4 | 19 | 0.97908496732026 | 16 | 765 | 51411898, 51412557-51412559, 51412583-51412586, 51412589, 51412603, 51412618-51412621, 51412657, 51412666 |
| 556 | ETFB | 19 | 0.97502401536984 | 26 | 1041 | 51857408-51857433 |
| 557 | NLRP12 | 19 | 0.98964218455744 | 33 | 3186 | 54312939-54312947, 54313631, 54313660-54313668, 54313845-54313855, 54313861-54313862, 54314385 |
| 558 | PRKCG | 19 | 0.84670487106017 | 321 | 2094 | 54385749-54385752, 54385759-54385826, 54385881-54385887, 54385899-54385918, 54387475, 54387479, 54387494, 54392904, 54392908, 54392921-54393003, 54393140-54393165, 54393175, 54393193-54393201, 54393204-54393271, 54403976, 54409670-54409671, 54409973, 54409979-54409994, 54410000, 54410005-54410007, 54410010-54410015 |
| 559 | PRPF31 | 19 | 0.99933333333333 | 1 | 1500 | 54627879 |
| 560 | TSEN34 | 19 | 0.93997856377278 | 56 | 933 | 54695241-54695245, 54695276-54695277, 54695285-54695292, 54695304, 54695307-54695310, 54695313-54695315, 54695324, 54695328-54695332, 54695334-54695335, 54695341, 54695343-54695345, 54695353-54695365, 54695375-54695382 |
| 561 | NLRP7 | 19 | 0.98362235067437 | 51 | 3114 | 55450730-55450731, 55450736-55450738, 55450741-55450749, 55450950-55450979, 55451167-55451173 |
| 562 | TNNT1 | 19 | 0.87198986058302 | 101 | 789 | 55648522-55648525, 55648538, 55648542-55648545, 55648551-55648554, 55652266-55652328, 55657802-55657816, 55657831-55657834, 55658051, 55658060, 55658075, 55658376-55658378 |
| 563 | TNNI3 | 19 | 0.81773399014778 | 111 | 609 | 55667580-55667639, 55667643-55667651, 55667661-55667700, 55668418, 55668427 |
| 564 | TPO | 2 | 0.906852248394 | 261 | 2802 | 1480867-1480951, 1480961-1480976, 1481005-1481009, 1481021, 1481031-1481080, 1481095-1481158, 1481199, 1481215-1481227, 1481231, 1481251-1481252, 1481272, 1481275-1481278, 1481290-1481292, 1481298-1481299, 1481372-1481376, 1488525-1488531, 1497644 |
| 565 | RPS7 | 2 | 0.94188034188034 | 34 | 585 | 3623216-3623240, 3623257-3623262, 3623265-3623267 |
| 566 | KLF11 | 2 | 0.97270955165692 | 42 | 1539 | 10183844-10183885 |
| 567 | LPIN1 | 2 | 0.99738121960344 | 7 | 2673 | 11925077-11925083 |
| 568 | MYCN | 2 | 0.7741935483871 | 315 | 1395 | 16082187-16082195, 16082303, 16082306, 16082363-16082368, 16082389, 16082392-16082402, 16082461-16082463, 16082467-16082469, 16082472, 16082478-16082480, 16082486, 16082489-16082490, 16082505, 16082541-16082544, 16082548, 16082555, 16082558-16082580, 16082586-16082589, 16082596, 16082633-16082857, 16082872-16082879, 16082893-16082897 |
| 569 | MATN3 | 2 | 0.88843258042437 | 163 | 1461 | 20212180-20212187, 20212204-20212206, 20212213-20212222, 20212225-20212236, 20212241-20212251, 20212274-20212392 |
| 570 | APOB | 2 | 0.99401110137306 | 82 | 13692 | 21266736-21266817 |
| 571 | POMC | 2 | 0.83582089552239 | 132 | 804 | 25384071-25384075, 25384140-25384188, 25384235-25384242, 25384314-25384331, 25384387-25384398, 25384406-25384408, 25384412-25384416, 25384439-25384467, 25384494-25384496 |
| 572 | HADHA | 2 | 0.99912739965096 | 2 | 2292 | 26417962-26417963 |
| 573 | OTOF | 2 | 0.95045045045045 | 297 | 5994 | 26684580, 26684990, 26690041, 26695389-26695391, 26696882, 26696934-26696948, 26696959-26696969, 26697381-26697385, 26697392-26697426, 26697436, 26697498-26697505, 26697516-26697532, 26699126, 26699153-26699162, 26699759-26699911, 26700083-26700090, 26700100-26700109, 26700117-26700131, 26700547 |
| 574 | C2orf71 | 2 | 0.9818981122317 | 70 | 3867 | 29287814, 29287871, 29287882, 29287919-29287922, 29293641-29293681, 29293697-29293703, 29294053-29294056, 29295333, 29295440-29295449 |
| 575 | ALK | 2 | 0.98745630269381 | 61 | 4863 | 29451781-29451789, 30143240-30143253, 30143406, 30143426-30143442, 30143445-30143448, 30143451-30143458, 30143467, 30143475, 30143492-30143495, 30143499, 30143524 |
| 576 | XDH | 2 | 0.99850074962519 | 6 | 4002 | 31560612, 31560628, 31609376-31609379 |
| 577 | SRD5A2 | 2 | 0.96850393700787 | 24 | 762 | 31805847-31805852, 31805859, 31805878, 31805888-31805893, 31805903-31805906, 31805922-31805927 |
| 578 | SPAST | 2 | 0.82549972987574 | 323 | 1851 | 32288946-32288947, 32288951, 32288964, 32288997-32289315 |
| 579 | CYP1B1 | 2 | 0.87254901960784 | 208 | 1632 | 38301681, 38301774-38301777, 38301923-38301929, 38301933, 38301939-38301944, 38301951-38301960, 38301963-38301964, 38301968, 38301971-38301976, 38301983-38302001, 38302007-38302008, 38302023-38302026, 38302050-38302052, 38302055-38302056, 38302074-38302104, 38302142-38302182, 38302192-38302199, 38302203-38302206, 38302212, 38302216-38302220, 38302222-38302228, 38302235-38302236, 38302239-38302245, 38302275-38302280, 38302286-38302292, 38302296-38302297, 38302307-38302312, 38302381, 38302385-38302386, 38302389-38302390, 38302393, 38302415-38302416, 38302419, 38302430-38302431, 38302438, 38302441 |
| 580 | ABCG5 | 2 | 0.98006134969325 | 39 | 1956 | 44058920, 44058936-44058941, 44058950-44058955, 44058958-44058961, 44058966, 44058969-44058971, 44058974, 44058980-44058987, 44059126, 44059132-44059133, 44059172, 44059198, 44059214, 44059220-44059222 |
| 581 | ABCG8 | 2 | 0.99901088031652 | 2 | 2022 | 44102368, 44102371 |
| 582 | LRPPRC | 2 | 0.99187574671446 | 34 | 4185 | 44222956, 44223038-44223061, 44223067, 44223070-44223077 |
| 583 | SIX3 | 2 | 0.74074074074074 | 259 | 999 | 45169309-45169310, 45169321-45169399, 45169420-45169461, 45169508, 45169522, 45169525-45169543, 45169548, 45169566-45169591, 45169613-45169617, 45169640-45169650, 45169781-45169816, 45169864, 45170029-45170035, 45171745-45171748, 45171751-45171760, 45171773, 45171776, 45171789-45171792, 45171800-45171802, 45171804-45171808 |
| 584 | EPCAM | 2 | 0.98835978835979 | 11 | 945 | 47596688-47596690, 47596693-47596699, 47596706 |
| 585 | MSH2 | 2 | 0.99572192513369 | 12 | 2805 | 47630438-47630440, 47630455, 47630458-47630461, 47639565-47639568 |
| 586 | MSH6 | 2 | 0.93632133235366 | 260 | 4083 | 48010373-48010632 |
| 587 | LHCGR | 2 | 0.97714285714286 | 48 | 2100 | 48982733-48982734, 48982737, 48982739-48982746, 48982751, 48982757-48982792 |
| 588 | NRXN1 | 2 | 0.95367231638418 | 205 | 4425 | 50149346, 50765567-50765584, 51254647-51254649, 51254679, 51254764-51254767, 51254772-51254775, 51254791-51254797, 51254807-51254838, 51254841, 51254911-51254915, 51254922-51254924, 51254938-51254945, 51254983, 51255035-51255042, 51255109-51255137, 51255152-51255162, 51255219-51255231, 51255268-51255292, 51255326-51255327, 51255345-51255356, 51255372-51255375, 51255383-51255385, 51255389, 51255398-51255404, 51255409-51255410 |
| 589 | EFEMP1 | 2 | 0.99595141700405 | 6 | 1482 | 56094280, 56144946, 56144992-56144995 |
| 590 | PEX13 | 2 | 0.99752475247525 | 3 | 1212 | 61244910-61244912 |
| 591 | ATP6V1B1 | 2 | 0.99092088197147 | 14 | 1542 | 71163085-71163086, 71163129-71163130, 71191597-71191604, 71192237-71192238 |
| 592 | DYSF | 2 | 0.98962264150943 | 66 | 6360 | 71693973-71693987, 71694016-71694051, 71753413, 71753428, 71753456-71753460, 71753469-71753476 |
| 593 | SPR | 2 | 0.62595419847328 | 294 | 786 | 73114562-73114855 |
| 594 | ALMS1 | 2 | 0.99376199616123 | 78 | 12504 | 73612997-73613050, 73613055-73613058, 73613061-73613064, 73613089, 73613091-73613095, 73613112, 73613115, 73613161, 73613198-73613200, 73613204, 73613267, 73613273, 73613283 |
| 595 | SLC4A5 | 2 | 0.99472759226714 | 18 | 3414 | 74460602-74460609, 74513009-74513010, 74513016-74513019, 74513026-74513029 |
| 596 | DCTN1 | 2 | 0.99166015115976 | 32 | 3837 | 74590488, 74590513, 74595148, 74596527, 74596530-74596532, 74598108-74598132 |
| 597 | MOGS | 2 | 0.98687350835322 | 33 | 2514 | 74688891-74688892, 74689002, 74690039-74690040, 74690043, 74690046, 74692103-74692118, 74692164, 74692168, 74692349-74692353, 74692356-74692358 |
| 598 | HTRA2 | 2 | 0.88307915758896 | 161 | 1377 | 74757134-74757162, 74757215-74757262, 74757351-74757353, 74757364-74757368, 74757373, 74757377-74757380, 74757386-74757389, 74757392-74757395, 74757437-74757479, 74757510-74757515, 74757519-74757520, 74757525-74757536 |
| 599 | GGCX | 2 | 0.98462889767238 | 35 | 2277 | 85781402, 85782640-85782641, 85785693, 85788521-85788551 |
| 600 | SFTPB | 2 | 0.99825479930192 | 2 | 1146 | 85895285-85895286 |
| 601 | REEP1 | 2 | 0.94719471947195 | 32 | 606 | 86564602-86564633 |
| 602 | EIF2AK3 | 2 | 0.94538943598926 | 183 | 3351 | 88926565-88926573, 88926597-88926632, 88926640-88926649, 88926658-88926761, 88926769-88926792 |
| 603 | RPIA | 2 | 0.99145299145299 | 8 | 936 | 88991293-88991300 |
| 604 | TMEM127 | 2 | 0.8744769874477 | 90 | 717 | 96930877, 96930890-96930898, 96930905-96930917, 96930925-96930933, 96930963-96930967, 96931024-96931028, 96931058, 96931073-96931119 |
| 605 | SNRNP200 | 2 | 0.99828419903291 | 11 | 6411 | 96954848, 96970519-96970528 |
| 606 | ZAP70 | 2 | 0.96451612903226 | 66 | 1860 | 98340500-98340501, 98340605, 98340610-98340625, 98340710, 98340728, 98340731-98340734, 98340748-98340776, 98340828, 98340831-98340832, 98340838, 98340846-98340849, 98349763-98349766 |
| 607 | RANBP2 | 2 | 0.98139534883721 | 180 | 9675 | 109336063-109336076, 109336092-109336098, 109336131-109336134, 109352592-109352598, 109357110-109357116, 109367756-109367762, 109367871, 109368061-109368067, 109368104-109368119, 109368327-109368342, 109370398, 109371656-109371662, 109382787-109382793, 109383027-109383064, 109383268-109383275, 109383315-109383321, 109384469, 109384628-109384634, 109384785, 109399122, 109399129-109399132, 109399136-109399143, 109399156-109399158, 109399161 |
| 608 | NPHP1 | 2 | 0.99950835791544 | 1 | 2034 | 110917730 |
| 609 | MERTK | 2 | 0.97966666666667 | 61 | 3000 | 112656313-112656373 |
| 610 | PAX8 | 2 | 0.99482631189948 | 7 | 1353 | 113994221-113994227 |
| 611 | GLI2 | 2 | 0.82461667716866 | 835 | 4761 | 121555017, 121555024-121555034, 121708971, 121708996, 121709002, 121709007-121709012, 121712939-121712944, 121712947, 121712951, 121712969-121712970, 121712974, 121713001, 121726328, 121726333, 121726447-121726450, 121728013-121728014, 121728020, 121728139, 121728152-121728154, 121729603-121729608, 121729612, 121729615-121729617, 121729635-121729639, 121745817-121745823, 121745829, 121745834-121745838, 121745875, 121745904-121745912, 121745930, 121745946-121745949, 121746016, 121746020-121746022, 121746034, 121746040-121746050, 121746072-121746559, 121746566, 121746645-121746656, 121746662, 121746681-121746720, 121746773-121746779, 121746790-121746793, 121746796-121746799, 121746804-121746818, 121746828-121746874, 121746973-121746975, 121747061-121747064, 121747081, 121747085, 121747165-121747200, 121747234-121747254, 121747384, 121747399-121747407, 121747426-121747430, 121747476-121747479, 121747504-121747510, 121747513-121747521, 121747564-121747570, 121747663-121747665 |
| 612 | BIN1 | 2 | 0.98204264870932 | 32 | 1782 | 127808405-127808410, 127808416, 127808419-127808424, 127808766-127808784 |
| 613 | PROC | 2 | 0.85281385281385 | 204 | 1386 | 128178863, 128178872-128178873, 128178878, 128178904-128178907, 128178952-128178962, 128180493-128180517, 128180610-128180747, 128180850-128180860, 128180868-128180871, 128180877, 128180883, 128180892-128180893, 128180917-128180918, 128180921 |
| 614 | CFC1 | 2 | 0.73363095238095 | 179 | 672 | 131279059-131279060, 131279080, 131279681, 131280363-131280477, 131280749, 131280780-131280781, 131280800-131280824, 131285303-131285334 |
| 615 | LCT | 2 | 0.99982710926694 | 1 | 5784 | 136590746 |
| 616 | MCM6 | 2 | 0.98986212489862 | 25 | 2466 | 136616961-136616962, 136616977-136616980, 136633875-136633880, 136633892-136633896, 136633901-136633905, 136633922-136633924 |
| 617 | ZEB2 | 2 | 0.97997256515775 | 73 | 3645 | 145274845-145274917 |
| 618 | MMADHC | 2 | 0.99887766554433 | 1 | 891 | 150438746 |
| 619 | NEB | 2 | 0.99694602983879 | 61 | 19974 | 152432665-152432675, 152432716, 152432747-152432750, 152432761-152432772, 152432778, 152432785-152432787, 152432792, 152432843-152432868, 152512813, 152512816 |
| 620 | CACNB4 | 2 | 0.99616122840691 | 6 | 1563 | 152955479-152955484 |
| 621 | SCN2A | 2 | 0.99551345962114 | 27 | 6018 | 166171981-166171995, 166187955, 166210826-166210830, 166210834, 166211134-166211137, 166211141 |
| 622 | GALNT3 | 2 | 0.99579390115668 | 8 | 1902 | 166611521-166611527, 166621494 |
| 623 | SCN1A | 2 | 0.99933299983325 | 4 | 5997 | 166848710-166848713 |
| 624 | SCN9A | 2 | 0.99730367374452 | 16 | 5934 | 167060680-167060686, 167141115-167141119, 167141137-167141140 |
| 625 | ABCB11 | 2 | 0.99974785678265 | 1 | 3966 | 169814583 |
| 626 | SLC25A12 | 2 | 0.99803632793324 | 4 | 2037 | 172671672, 172750722-172750724 |
| 627 | ITGA6 | 2 | 0.94413919413919 | 183 | 3276 | 173292517-173292698, 173352466 |
| 628 | CHRNA1 | 2 | 0.99781659388646 | 3 | 1374 | 175618426-175618428 |
| 629 | CHN1 | 2 | 0.99782608695652 | 3 | 1380 | 175869638-175869640 |
| 630 | HOXD13 | 2 | 0.62693798449612 | 385 | 1032 | 176957619-176957998, 176958049-176958051, 176958353-176958354 |
| 631 | AGPS | 2 | 0.97015680323723 | 59 | 1977 | 178257586-178257588, 178257597-178257630, 178257707-178257709, 178257735, 178257738-178257744, 178346859-178346861, 178346913-178346914, 178362436-178362440, 178362449 |
| 632 | PRKRA | 2 | 0.95329087048832 | 44 | 942 | 179315693-179315736 |
| 633 | TTN | 2 | 0.999461335887 | 54 | 100248 | 179392337-179392348, 179392353, 179392362, 179425469-179425475, 179447790, 179514941-179514945, 179514962-179514964, 179514985, 179534981-179534993, 179565847-179565848, 179596268-179596270, 179648459, 179648510, 179659684, 179666890, 179666893 |
| 634 | CERKL | 2 | 0.99937460913071 | 1 | 1599 | 182521607 |
| 635 | NEUROD1 | 2 | 0.99906629318394 | 1 | 1071 | 182543258 |
| 636 | COL3A1 | 2 | 0.98977505112474 | 45 | 4401 | 189854163-189854175, 189856940, 189856953-189856954, 189860418-189860425, 189860460-189860464, 189860861-189860864, 189870135, 189871663-189871671, 189872617, 189872662 |
| 637 | COL5A2 | 2 | 0.998 | 9 | 4500 | 189910593, 189916132, 189918651-189918657 |
| 638 | PMS1 | 2 | 0.99749910682387 | 7 | 2799 | 190718965-190718966, 190719208-190719209, 190728731-190728733 |
| 639 | MSTN | 2 | 0.99468085106383 | 6 | 1128 | 190926974-190926979 |
| 640 | STAT1 | 2 | 0.98890368397692 | 25 | 2253 | 191859796, 191859809-191859811, 191859814-191859815, 191859878, 191859881-191859883, 191859886, 191859895-191859906, 191859909-191859910 |
| 641 | CASP8 | 2 | 0.98948670377242 | 17 | 1617 | 202137422, 202149604-202149608, 202149629-202149635, 202149649-202149652 |
| 642 | ALS2 | 2 | 0.99698431845597 | 15 | 4974 | 202622413, 202622421-202622424, 202626273-202626276, 202626297-202626298, 202626390-202626393 |
| 643 | BMPR2 | 2 | 0.99775425088226 | 7 | 3117 | 203332303-203332309 |
| 644 | FASTKD2 | 2 | 0.99484294421003 | 11 | 2133 | 207652741-207652747, 207652750-207652751, 207652761, 207652764 |
| 645 | ACADL | 2 | 0.99458623356535 | 7 | 1293 | 211089911-211089916, 211089936 |
| 646 | ABCA12 | 2 | 0.99345146379045 | 51 | 7788 | 215797430, 215807686-215807692, 215809819-215809825, 215854153-215854187, 215854342 |
| 647 | SMARCAL1 | 2 | 0.99720767888307 | 8 | 2865 | 217297521-217297522, 217297548-217297552, 217315614 |
| 648 | PNKD | 2 | 0.99481865284974 | 6 | 1158 | 219204584, 219204597-219204600, 219204848 |
| 649 | WNT10A | 2 | 0.84529505582137 | 194 | 1254 | 219745742-219745785, 219745794-219745799, 219745811-219745812, 219745816, 219757515-219757523, 219757533-219757540, 219757550, 219757612-219757615, 219757654, 219757658-219757669, 219757678-219757679, 219757684, 219757687-219757696, 219757698, 219757701-219757703, 219757706, 219757719-219757724, 219757752-219757758, 219757762, 219757766-219757791, 219757816-219757820, 219757849-219757861, 219757872-219757879, 219757890-219757909, 219757919-219757920 |
| 650 | DES | 2 | 0.83227176220807 | 237 | 1413 | 220283185-220283199, 220283213-220283219, 220283232, 220283238-220283255, 220283258-220283267, 220283277-220283279, 220283291-220283296, 220283300-220283301, 220283305-220283330, 220283340-220283342, 220283354-220283360, 220283372-220283375, 220283389-220283391, 220283399-220283403, 220283419, 220283422, 220283426-220283435, 220283442-220283470, 220283502-220283506, 220283520, 220283586-220283622, 220283641-220283651, 220283693-220283696, 220283707, 220283709-220283717, 220283721-220283738 |
| 651 | OBSL1 | 2 | 0.82270251273941 | 1009 | 5691 | 220416251-220416325, 220416337-220416344, 220416357-220416363, 220416394, 220416405, 220416432-220416435, 220416484, 220416488-220416489, 220416834-220416842, 220416858-220416860, 220416867, 220416883-220416914, 220417275-220417419, 220417592-220417620, 220417635, 220417736-220417743, 220432924-220432929, 220435105, 220435237, 220435240, 220435251-220435254, 220435258-220435260, 220435266, 220435272-220435275, 220435294-220435954 |
| 652 | PAX3 | 2 | 0.99802371541502 | 3 | 1518 | 223161889, 223163255, 223163259 |
| 653 | COL4A4 | 2 | 0.9980252764613 | 10 | 5064 | 227886792, 227920740-227920746, 227984623, 227985827 |
| 654 | COL4A3 | 2 | 0.98284460402952 | 86 | 5013 | 228029458-228029494, 228029507, 228029510-228029511, 228115883, 228137733, 228153946, 228162459, 228162462-228162463, 228163415, 228163476-228163503, 228163516-228163526 |
| 655 | CHRND | 2 | 0.99099099099099 | 14 | 1554 | 233390931-233390934, 233390937, 233390940-233390947, 233390951 |
| 656 | CHRNG | 2 | 0.98777348777349 | 19 | 1554 | 233405322-233405328, 233405336-233405341, 233405347, 233405351-233405352, 233407662, 233409593-233409594 |
| 657 | SAG | 2 | 0.9991789819376 | 1 | 1218 | 234243652 |
| 658 | UGT1A1 | 2 | 0.99313358302122 | 11 | 1602 | 234668934-234668939, 234669069, 234669076, 234669081-234669083 |
| 659 | COL6A3 | 2 | 0.9985315712188 | 14 | 9534 | 238243370, 238243377-238243381, 238244864-238244866, 238244872, 238244887, 238249103, 238283443-238283444 |
| 660 | AGXT | 2 | 0.98303647158609 | 20 | 1179 | 241808308-241808319, 241808350, 241816993-241816997, 241817011-241817012 |
| 661 | D2HGDH | 2 | 0.80842911877395 | 300 | 1566 | 242674640-242674655, 242674692-242674733, 242674757-242674788, 242674856, 242695421, 242707158-242707163, 242707169, 242707184-242707384 |
| 662 | C20orf54 | 20 | 0.98652482269504 | 19 | 1410 | 741776, 741779-741784, 741795-741805, 745972 |
| 663 | AVP | 20 | 0.28888888888889 | 352 | 495 | 3063276-3063448, 3063623-3063760, 3063773, 3063776-3063783, 3063793-3063824 |
| 664 | PANK2 | 20 | 0.78984238178634 | 360 | 1713 | 3869775-3869793, 3869814-3869839, 3869867-3869880, 3869900-3870037, 3870049-3870052, 3870079, 3870086, 3870091-3870116, 3870121-3870136, 3870155-3870174, 3870182-3870220, 3870235-3870246, 3870262-3870275, 3870277-3870278, 3870286-3870290, 3870294, 3870297, 3870303-3870308, 3870311, 3870316, 3870319-3870323, 3870346-3870349, 3870362-3870363, 3870368-3870369 |
| 665 | PROKR2 | 20 | 0.99826388888889 | 2 | 1152 | 5283043-5283044 |
| 666 | FERMT1 | 20 | 0.99311701081613 | 14 | 2034 | 6100173-6100186 |
| 667 | JAG1 | 20 | 0.96992070002734 | 110 | 3657 | 10639300-10639306, 10653467, 10653539-10653543, 10653547-10653549, 10653554, 10653561, 10653575, 10653578, 10653582, 10653634, 10653641, 10653649-10653654, 10654098-10654178 |
| 668 | C20orf7 | 20 | 0.98554913294798 | 15 | 1038 | 13782191, 13782195-13782204, 13782215, 13782224-13782226 |
| 669 | THBD | 20 | 0.82349537037037 | 305 | 1728 | 23028414, 23028445-23028454, 23028644-23028646, 23028662, 23028673, 23029126-23029132, 23029193, 23029286-23029288, 23029292-23029297, 23029299-23029317, 23029323-23029325, 23029331-23029332, 23029376, 23029381, 23029384, 23029457-23029491, 23029498-23029545, 23029571-23029578, 23029582-23029584, 23029587-23029595, 23029606-23029636, 23029646-23029652, 23029691-23029697, 23029701-23029706, 23029717, 23029724-23029725, 23029748-23029754, 23029813-23029862, 23029876-23029880, 23029883-23029894, 23029901-23029908, 23030029, 23030071, 23030080, 23030108-23030110 |
| 670 | SNTA1 | 20 | 0.83135704874835 | 256 | 1518 | 32000207-32000215, 32031160, 32031170-32031180, 32031192-32031426 |
| 671 | GDF5 | 20 | 0.94156706507304 | 88 | 1506 | 34022387, 34022391, 34022397-34022404, 34025093-34025094, 34025116-34025148, 34025167-34025193, 34025281-34025284, 34025330-34025341 |
| 672 | SAMHD1 | 20 | 0.99521531100478 | 9 | 1881 | 35579850, 35579854, 35579879-35579885 |
| 673 | HNF4A | 20 | 0.99578947368421 | 6 | 1425 | 43052770-43052775 |
| 674 | ADA | 20 | 0.96703296703297 | 36 | 1092 | 43255156-43255158, 43280216-43280248 |
| 675 | CTSA | 20 | 0.96726786907148 | 49 | 1497 | 44520230-44520277, 44523637 |
| 676 | SLC2A10 | 20 | 0.99446494464945 | 9 | 1626 | 45338376-45338379, 45354889-45354892, 45354895 |
| 677 | DPM1 | 20 | 0.99744572158365 | 2 | 783 | 49557469, 49562277 |
| 678 | SALL4 | 20 | 0.99272612270715 | 23 | 3162 | 50418824-50418831, 50418837, 50418839-50418846, 50418874, 50418886-50418889, 50418892 |
| 679 | VAPB | 20 | 0.90983606557377 | 66 | 732 | 56964516-56964573, 56993370-56993377 |
| 680 | STX16 | 20 | 0.98875255623722 | 11 | 978 | 57244382-57244383, 57244387-57244392, 57244400-57244401, 57244404 |
| 681 | GNAS | 20 | 0.94850948509485 | 38 | 738 | 57415218-57415224, 57415233-57415238, 57415243, 57415322-57415332, 57415347, 57415355-57415357, 57415370, 57415373, 57415692-57415698 |
| 682 | GNAS | 20 | 0.88021836865767 | 373 | 3114 | 57428962-57428966, 57429086-57429093, 57429101-57429107, 57429341, 57429476, 57429482-57429487, 57429492, 57429495, 57429498-57429504, 57429510-57429513, 57429520-57429550, 57429652, 57429655, 57429663, 57429666, 57429674, 57429680-57429683, 57429688, 57429691-57429696, 57429725-57429726, 57429745-57429804, 57429828, 57429837-57429877, 57429915, 57429940-57429949, 57429955-57429956, 57429958-57429959, 57429962-57429963, 57429970, 57429991-57430006, 57430049-57430051, 57430061, 57430070, 57430075-57430077, 57430085, 57430100-57430143, 57430153-57430202, 57430250-57430282, 57430295-57430305 |
| 683 | EDN3 | 20 | 0.96513249651325 | 25 | 717 | 57875885-57875897, 57875908-57875919 |
| 684 | COL9A3 | 20 | 0.94501216545012 | 113 | 2055 | 61448417-61448494, 61448926-61448931, 61448935-61448937, 61448942-61448943, 61448946-61448948, 61448951, 61448955-61448964, 61448969, 61448981, 61448984-61448985, 61453973, 61461712, 61461900, 61468511, 61468520, 61468531 |
| 685 | CHRNA4 | 20 | 0.947983014862 | 98 | 1884 | 61981123, 61981129, 61981132, 61981152-61981158, 61981237, 61981386-61981389, 61981430, 61981453, 61981467, 61981470, 61981536, 61981593-61981603, 61981607, 61981611, 61981614-61981618, 61981683-61981686, 61987421-61987424, 61992451-61992478, 61992483-61992500, 61992507-61992511, 61992515 |
| 686 | KCNQ2 | 20 | 0.877052310042 | 322 | 2619 | 62038031, 62038057, 62038061, 62038068-62038069, 62038222-62038223, 62038349, 62038353-62038358, 62038372, 62038378, 62038408-62038409, 62038428, 62038494, 62038497, 62044881, 62044884-62044886, 62046347-62046354, 62046404-62046409, 62059756, 62103524-62103797, 62103809-62103816 |
| 687 | SOX18 | 20 | 0.10909090909091 | 1029 | 1155 | 62679522-62679541, 62679544-62679545, 62679643-62679646, 62679661-62679690, 62679701-62680315, 62680512-62680869 |
| 688 | APP | 21 | 0.97795071335927 | 51 | 2313 | 27542882-27542924, 27542931-27542938 |
| 689 | BACH1 | 21 | 0.99095431931253 | 20 | 2211 | 30715024-30715025, 30715033, 30715048-30715054, 30715068, 30715072, 30715076-30715083 |
| 690 | SOD1 | 21 | 0.98279569892473 | 8 | 465 | 33032104, 33032117-33032123 |
| 691 | IFNGR2 | 21 | 0.92800788954635 | 73 | 1014 | 34775850-34775922 |
| 692 | RCAN1 | 21 | 0.64558629776021 | 269 | 759 | 35895882-35895888, 35895999-35896008, 35987059-35987310 |
| 693 | RUNX1 | 21 | 0.92030492030492 | 115 | 1443 | 36164438-36164476, 36164503-36164510, 36164553, 36164587, 36164606-36164609, 36164614, 36164698-36164708, 36259216-36259219, 36259222, 36259293-36259295, 36259300-36259309, 36259316, 36259320-36259323, 36259356-36259379, 36259382-36259384 |
| 694 | CLDN14 | 21 | 0.98888888888889 | 8 | 720 | 37833555, 37833559, 37833562, 37833978, 37833981, 37833984-37833986 |
| 695 | CBS | 21 | 0.9975845410628 | 4 | 1656 | 44480627, 44480630, 44480650-44480651 |
| 696 | CSTB | 21 | 0.77777777777778 | 66 | 297 | 45196085-45196150 |
| 697 | AIRE | 21 | 0.77289377289377 | 372 | 1638 | 45705890-45706021, 45706460-45706494, 45706877, 45706884, 45706890, 45706970, 45706977-45706985, 45706994, 45709910, 45712883, 45712895-45712905, 45712914, 45712926-45712942, 45712998-45713012, 45713021-45713058, 45713725-45713726, 45713729, 45713792, 45714284-45714386 |
| 698 | ITGB2 | 21 | 0.93290043290043 | 155 | 2310 | 46306753-46306758, 46306778-46306782, 46308608-46308727, 46308748, 46308753-46308754, 46308773-46308776, 46308781-46308782, 46308792, 46308797-46308810 |
| 699 | COL18A1 | 21 | 0.87616334283001 | 652 | 5265 | 46875471-46875473, 46875476-46875479, 46875483-46875499, 46875502-46875509, 46875679, 46876243-46876267, 46876306, 46876313, 46876330, 46876384-46876443, 46876470-46876477, 46876482-46876485, 46876498-46876502, 46876514, 46876526-46876563, 46876577-46876585, 46876638-46876666, 46876717, 46888192, 46888206, 46888210, 46888216, 46888219-46888223, 46888237-46888239, 46888515-46888523, 46888628-46888641, 46888645-46888647, 46888656, 46900674, 46906815, 46906819, 46906828-46906849, 46906856, 46906860-46906874, 46906898-46906905, 46911139-46911145, 46911153-46911159, 46911175-46911177, 46911181-46911193, 46911220, 46911225-46911228, 46913080-46913081, 46913478-46913485, 46923925-46923926, 46923948, 46924426-46924434, 46925073, 46925104-46925152, 46925169, 46925288-46925298, 46925304, 46925314-46925315, 46925328-46925332, 46929315-46929316, 46929319, 46929332-46929338, 46929349-46929365, 46929441, 46929446-46929447, 46929450, 46929463, 46929467, 46929492-46929512, 46930014-46930015, 46930045-46930165, 46931081-46931084, 46932178-46932199, 46932207-46932224 |
| 700 | COL6A1 | 21 | 0.96242306446388 | 116 | 3087 | 47401765-47401795, 47401800-47401803, 47401809-47401812, 47404276, 47404280-47404284, 47407556-47407559, 47410177, 47410292, 47410295-47410308, 47410319-47410321, 47410736, 47410739, 47419572-47419580, 47419587-47419595, 47419600, 47419604, 47422535-47422537, 47423488-47423491, 47423494, 47423503-47423512, 47423577-47423584 |
| 701 | COL6A2 | 21 | 0.9421568627451 | 177 | 3060 | 47531393, 47531414-47531416, 47531419, 47531423-47531426, 47531429-47531440, 47531468-47531502, 47531896, 47536574-47536575, 47539010-47539016, 47539702-47539707, 47545759-47545762, 47545768, 47545772-47545785, 47545826, 47545864-47545868, 47545938, 47545941-47545942, 47545946, 47545969, 47545978-47545979, 47545982-47545983, 47551868-47551871, 47551998, 47552003, 47552012, 47552015, 47552032-47552034, 47552037-47552039, 47552163-47552165, 47552191-47552192, 47552198-47552200, 47552220-47552221, 47552282-47552289, 47552298-47552324, 47552385-47552393, 47552399, 47552404, 47552423 |
| 702 | COL6A2 | 21 | 0.83918128654971 | 55 | 342 | 47552191-47552192, 47552198-47552200, 47552220-47552221, 47552282-47552289, 47552298-47552324, 47552385-47552393, 47552399, 47552404, 47552423, 47552475 |
| 703 | FTCD | 21 | 0.91389913899139 | 140 | 1626 | 47565335-47565360, 47565382-47565414, 47565425-47565430, 47565433-47565434, 47565438, 47565732-47565767, 47565770-47565773, 47565779, 47565790-47565793, 47565797, 47565803-47565808, 47565816-47565824, 47566224, 47566233, 47570157-47570158, 47571640, 47571880-47571882, 47574179-47574181 |
| 704 | PCNT | 21 | 0.97113175506942 | 289 | 10011 | 47744143-47744155, 47744163-47744196, 47775420, 47783689-47783730, 47783762, 47783765-47783768, 47783773, 47783795-47783796, 47786644, 47786663, 47786666-47786667, 47786675, 47786686-47786691, 47805840, 47805845-47805851, 47805862-47805872, 47811211, 47811214, 47818007, 47818013, 47818017, 47831281-47831313, 47831353-47831355, 47831358, 47831429-47831430, 47831446, 47831449-47831461, 47831465-47831477, 47831480-47831489, 47831783-47831790, 47832893-47832906, 47836687-47836688, 47836704-47836707, 47836752, 47850484, 47851839-47851840, 47851843, 47856014-47856020, 47856045-47856050, 47856057, 47858077-47858083, 47858103-47858118, 47863834-47863835, 47863841-47863842, 47863845-47863850 |
| 705 | PEX26 | 22 | 0.91721132897603 | 76 | 918 | 18561177-18561189, 18561198-18561249, 18561257-18561259, 18561290, 18561302-18561308 |
| 706 | PRODH | 22 | 0.83971159179146 | 289 | 1803 | 18900750, 18904412-18904414, 18905879-18905902, 18905925, 18907030-18907038, 18908884, 18908888, 18910442-18910443, 18923533-18923754, 18923766-18923771, 18923782-18923800 |
| 707 | GP1BB | 22 | 0.10789049919485 | 554 | 621 | 19711377-19711407, 19711417-19711425, 19711434, 19711444-19711464, 19711468-19711472, 19711475, 19711486-19711971 |
| 708 | TBX1 | 22 | 0.32661290322581 | 1002 | 1488 | 19747167-19747181, 19748428-19748803, 19751743, 19753287-19753330, 19753336-19753348, 19753425-19753525, 19753912-19754362, 19754373 |
| 709 | SMARCB1 | 22 | 0.91882556131261 | 94 | 1158 | 24129357-24129449, 24175809 |
| 710 | HPS4 | 22 | 0.99621212121212 | 8 | 2112 | 26849237, 26849267-26849272, 26859942 |
| 711 | CHEK2 | 22 | 0.95513912549688 | 79 | 1761 | 29083906-29083928, 29083935-29083965, 29085165-29085171, 29091837-29091844, 29126422-29126427, 29126439, 29126442, 29126445, 29130667 |
| 712 | TCN2 | 22 | 0.99922118380062 | 1 | 1284 | 31011610 |
| 713 | SLC5A1 | 22 | 0.98546365914787 | 29 | 1995 | 32463992-32464006, 32487599-32487608, 32487661-32487662, 32495196, 32495199 |
| 714 | TIMP3 | 22 | 0.9811320754717 | 12 | 636 | 33198007, 33198021-33198027, 33198040, 33198042, 33198048-33198049 |
| 715 | LARGE | 22 | 0.99735799207398 | 6 | 2271 | 33712084-33712089 |
| 716 | MYH9 | 22 | 0.99337072921979 | 39 | 5883 | 36680211, 36688075-36688081, 36688092-36688096, 36688099-36688101, 36688111-36688115, 36688118-36688120, 36701086-36701094, 36701106-36701111 |
| 717 | TRIOBP | 22 | 0.96097492251338 | 277 | 7098 | 38109260-38109275, 38109364-38109372, 38119798-38119804, 38119856-38119862, 38119879-38119921, 38120032, 38120041, 38120049, 38120150-38120199, 38120270-38120303, 38120426-38120450, 38120480-38120486, 38121926-38121927, 38121930, 38121944, 38121984-38121987, 38122033-38122036, 38122048, 38122055, 38122058-38122059, 38122324-38122325, 38122437-38122442, 38122448-38122450, 38122488-38122490, 38129332, 38130910, 38136959-38136962, 38153803-38153806, 38153818-38153821, 38153834-38153838, 38153930, 38161746, 38164179-38164183, 38165162-38165181 |
| 718 | SOX10 | 22 | 0.91434689507495 | 120 | 1401 | 38369923-38369928, 38369933-38369946, 38379397-38379398, 38379479-38379487, 38379520-38379524, 38379652-38379693, 38379711-38379722, 38379726-38379728, 38379731-38379745, 38379754, 38379757-38379761, 38379764, 38379767-38379771 |
| 719 | ADSL | 22 | 0.99450171821306 | 8 | 1455 | 40742563-40742570 |
| 720 | EP300 | 22 | 0.99668737060041 | 24 | 7245 | 41546052-41546053, 41546056-41546058, 41546063-41546066, 41546144-41546151, 41572777, 41573308-41573309, 41574102, 41574185, 41574194, 41574213 |
| 721 | TNFRSF13C | 22 | 0.48108108108108 | 288 | 555 | 42322112-42322116, 42322122-42322123, 42322140, 42322143, 42322146-42322147, 42322151, 42322167, 42322173-42322174, 42322191-42322192, 42322201-42322335, 42322642-42322777 |
| 722 | CYB5R3 | 22 | 0.97350993377483 | 24 | 906 | 43027436-43027438, 43045301-43045321 |
| 723 | ATXN10 | 22 | 0.91806722689076 | 117 | 1428 | 46067944-46068059, 46134641 |
| 724 | TRMU | 22 | 0.9739336492891 | 33 | 1266 | 46731679-46731681, 46731689, 46731695-46731701, 46731704-46731708, 46731712-46731716, 46731722-46731732, 46752837 |
| 725 | ALG12 | 22 | 0.98227675528289 | 26 | 1467 | 50297985-50298006, 50307358-50307360, 50307377 |
| 726 | MLC1 | 22 | 0.96560846560847 | 39 | 1134 | 50502480-50502495, 50502510, 50502523, 50502591-50502597, 50502605-50502618 |
| 727 | SCO2 | 22 | 0.97752808988764 | 18 | 801 | 50962561-50962568, 50962660, 50962663, 50962761-50962767, 50962782 |
| 728 | TYMP | 22 | 0.61766735679779 | 554 | 1449 | 50964199-50964238, 50964269-50964347, 50964430-50964570, 50964675-50964860, 50964882-50964885, 50964893-50964898, 50964903-50964905, 50965009-50965048, 50965065-50965068, 50965091-50965094, 50965125-50965135, 50965166, 50967648-50967649, 50968023, 50968089-50968120 |
| 729 | ARSA | 22 | 0.95275590551181 | 72 | 1524 | 51063654, 51063665-51063670, 51063675-51063688, 51063691-51063696, 51063718-51063721, 51063774-51063783, 51063790, 51063794, 51063801-51063803, 51063820, 51063824-51063834, 51063840-51063842, 51063846, 51063853, 51063885, 51063888-51063890, 51064054-51064055, 51064436, 51065833-51065834 |
| 730 | SHANK3 | 22 | 0.65560640732265 | 1806 | 5244 | 51113070-51113132, 51113481-51113510, 51113533-51113543, 51113597, 51113646-51113649, 51133312, 51133316-51133319, 51133330, 51133334, 51133346-51133348, 51135694-51135719, 51135951-51136143, 51137162-51137167, 51144500-51144536, 51158622-51158628, 51158684, 51158690, 51158707-51159323, 51159353-51159356, 51159372-51159373, 51159376-51159386, 51159389-51159393, 51159396-51159467, 51159483-51159494, 51159506, 51159545-51159548, 51159578-51159580, 51159583, 51159593-51159602, 51159607, 51159612-51159615, 51159624-51159632, 51159670, 51159696-51159707, 51159721-51159760, 51159770-51159794, 51159925, 51159970-51159979, 51159997, 51160002, 51160202-51160216, 51160619-51160620, 51169150, 51169159, 51169166, 51169174-51169241, 51169251-51169259, 51169269-51169740 |
| 731 | SUMF1 | 3 | 0.98666666666667 | 15 | 1125 | 4458816, 4458820-4458823, 4458841, 4458881, 4458885-4458888, 4508706-4508707, 4508756, 4508762 |
| 732 | ITPR1 | 3 | 0.99963113242346 | 3 | 8133 | 4732995, 4732998, 4856180 |
| 733 | CAV3 | 3 | 0.92543859649123 | 34 | 456 | 8787506-8787538, 8787542 |
| 734 | VHL | 3 | 0.9190031152648 | 52 | 642 | 10183698-10183708, 10183779-10183815, 10183842-10183844, 10183847 |
| 735 | TSEN2 | 3 | 0.99928469241774 | 1 | 1398 | 12545160 |
| 736 | WNT7A | 3 | 0.98285714285714 | 18 | 1050 | 13860461-13860465, 13860472, 13921243-13921254 |
| 737 | XPC | 3 | 0.99964576691463 | 1 | 2823 | 14220031 |
| 738 | COLQ | 3 | 0.95979532163743 | 55 | 1368 | 15563078-15563132 |
| 739 | TGFBR2 | 3 | 0.98650927487352 | 24 | 1779 | 30648381-30648388, 30648404-30648405, 30648409, 30648413, 30648418-30648419, 30648426-30648427, 30648432, 30648458-30648464 |
| 740 | GLB1 | 3 | 0.96312684365782 | 75 | 2034 | 33138503-33138577 |
| 741 | CRTAP | 3 | 0.62189054726368 | 456 | 1206 | 33155570-33156010, 33156019-33156028, 33156036-33156040 |
| 742 | MLH1 | 3 | 0.99823866138265 | 4 | 2271 | 37067205, 37067350, 37067402, 37067406 |
| 743 | SCN5A | 3 | 0.99796230259806 | 12 | 5889 | 38592925-38592931, 38648173-38648176, 38648192 |
| 744 | ABHD5 | 3 | 0.9552380952381 | 47 | 1050 | 43732485-43732531 |
| 745 | TMIE | 3 | 0.68627450980392 | 144 | 459 | 46742860-46742965, 46742971-46742974, 46742988-46743004, 46743007, 46743010-46743022, 46743026-46743028 |
| 746 | TMIE | 3 | 0.92781316348195 | 34 | 471 | 46742988-46743004, 46743007, 46743010-46743022, 46743026-46743028 |
| 747 | TREX1 | 3 | 0.99279279279279 | 8 | 1110 | 48508039-48508040, 48508073, 48508077, 48508081-48508082, 48508329, 48508894 |
| 748 | COL7A1 | 3 | 0.99388794567063 | 54 | 8835 | 48612816, 48612871, 48612876-48612877, 48612905, 48619173-48619180, 48623023, 48625228-48625231, 48625259, 48625266, 48627038-48627041, 48627143, 48627148, 48629665, 48629813, 48629819, 48632555-48632562, 48632565-48632575, 48632581, 48632585-48632589 |
| 749 | LAMB2 | 3 | 0.98888271261812 | 60 | 5397 | 49159730, 49160252-49160256, 49160274-49160275, 49160286-49160296, 49162032, 49162549, 49162554, 49162559, 49162721-49162725, 49162740, 49162744, 49162786-49162791, 49162807, 49162903-49162917, 49166117-49166124 |
| 750 | GNAT1 | 3 | 0.81861348528015 | 191 | 1053 | 50231186-50231207, 50231231-50231252, 50231525-50231527, 50231532-50231552, 50231591-50231623, 50231645, 50232198-50232262, 50232291, 50232296-50232301, 50232312-50232327, 50232335 |
| 751 | HYAL1 | 3 | 0.99923547400612 | 1 | 1308 | 50338494 |
| 752 | RFT1 | 3 | 0.93665436654367 | 103 | 1626 | 53138076, 53156415-53156471, 53156484-53156490, 53156501, 53156504-53156505, 53156521-53156523, 53156530-53156535, 53157773-53157798 |
| 753 | TKT | 3 | 0.94284188034188 | 107 | 1872 | 53289852-53289958 |
| 754 | HESX1 | 3 | 0.98566308243728 | 8 | 558 | 57233911-57233917, 57233930 |
| 755 | FLNB | 3 | 0.99321295940581 | 53 | 7809 | 57994356, 57994427, 57994430-57994432, 57994438-57994439, 57994446, 57994485, 57994488, 57994499-57994541 |
| 756 | PDHB | 3 | 0.9787037037037 | 23 | 1080 | 58419370, 58419373-58419382, 58419385, 58419391, 58419396-58419397, 58419402-58419403, 58419410-58419411, 58419495-58419497, 58419501 |
| 757 | ATXN7 | 3 | 0.88372093023256 | 330 | 2838 | 63898275-63898599, 63982046-63982050 |
| 758 | MITF | 3 | 0.98080614203455 | 30 | 1563 | 69788767-69788774, 69788822-69788842, 69928341 |
| 759 | PROK2 | 3 | 0.87948717948718 | 47 | 390 | 71834120-71834123, 71834149-71834191 |
| 760 | ROBO2 | 3 | 0.99323181049069 | 28 | 4137 | 77599996-77600022, 77684110 |
| 761 | CHMP2B | 3 | 0.99532710280374 | 3 | 642 | 87299077-87299078, 87299087 |
| 762 | PROS1 | 3 | 0.98867552929591 | 23 | 2031 | 93595834-93595836, 93595841, 93595848, 93595906, 93595941, 93595951-93595953, 93595963-93595964, 93595971-93595973, 93595978-93595980, 93596013, 93692571-93692574 |
| 763 | ARL6 | 3 | 0.98752228163993 | 7 | 561 | 97486984-97486990 |
| 764 | CPOX | 3 | 0.85567765567766 | 197 | 1365 | 98311876, 98311928-98311939, 98311941-98311960, 98311964-98311974, 98312018, 98312075-98312085, 98312104-98312105, 98312129-98312254, 98312257-98312258, 98312273, 98312275-98312276, 98312280-98312287 |
| 765 | CASR | 3 | 0.99876428792091 | 4 | 3237 | 122003496-122003498, 122003634 |
| 766 | GP9 | 3 | 0.92322097378277 | 41 | 534 | 128780891, 128780996-128781009, 128781022-128781044, 128781063, 128781085, 128781089 |
| 767 | RHO | 3 | 0.98949379178606 | 11 | 1047 | 129251384-129251394 |
| 768 | ATP2C1 | 3 | 0.99964912280702 | 1 | 2850 | 130714933 |
| 769 | NPHP3 | 3 | 0.91209616829452 | 351 | 3993 | 132409377-132409381, 132409441-132409442, 132438549-132438674, 132440982-132441199 |
| 770 | FOXL2 | 3 | 0.30680813439434 | 784 | 1131 | 138664524-138664525, 138664537, 138664541, 138664544, 138664548-138664553, 138664560-138664569, 138664575, 138664598-138665143, 138665149-138665188, 138665197-138665201, 138665204-138665206, 138665219, 138665225-138665230, 138665245-138665248, 138665280-138665313, 138665326-138665390, 138665401-138665402, 138665407, 138665418, 138665428, 138665436, 138665463, 138665466-138665484, 138665494, 138665518-138665548 |
| 771 | MRPS22 | 3 | 0.99538319482918 | 5 | 1083 | 139074583-139074587 |
| 772 | PLOD2 | 3 | 0.99385155906895 | 14 | 2277 | 145791083, 145791120-145791122, 145804574-145804580, 145804639-145804641 |
| 773 | HPS3 | 3 | 0.99800995024876 | 6 | 3015 | 148847549, 148863168-148863169, 148863183-148863185 |
| 774 | GFM1 | 3 | 0.99290780141844 | 16 | 2256 | 158362438-158362452, 158399854 |
| 775 | IFT80 | 3 | 0.9995704467354 | 1 | 2328 | 160099335 |
| 776 | GHSR | 3 | 0.99909173478656 | 1 | 1101 | 172166090 |
| 777 | SOX2 | 3 | 0.84171907756813 | 151 | 954 | 181430183-181430237, 181430248-181430297, 181430376-181430379, 181430420-181430429, 181430546-181430548, 181430552-181430559, 181430583-181430589, 181430818, 181430824-181430834, 181430896, 181430985 |
| 778 | ALG3 | 3 | 0.99316628701595 | 9 | 1317 | 183962992, 183966624-183966628, 183966688-183966689, 183966706 |
| 779 | CLCN2 | 3 | 0.99888765294772 | 3 | 2697 | 184075435, 184075451-184075452 |
| 780 | TP63 | 3 | 0.99804209495839 | 4 | 2043 | 189587115-189587118 |
| 781 | CCDC50 | 3 | 0.98343685300207 | 24 | 1449 | 191047475-191047477, 191098043-191098063 |
| 782 | OPA1 | 3 | 0.99835958005249 | 5 | 3048 | 193355041, 193355044-193355047 |
| 783 | CPN2 | 3 | 0.9981684981685 | 3 | 1638 | 194061801-194061803 |
| 784 | PDE6B | 4 | 0.97933723196881 | 53 | 2565 | 619517, 619520, 619538, 619542, 657597, 659045-659048, 659053, 659058-659060, 659105-659118, 663835-663860 |
| 785 | IDUA | 4 | 0.67125382262997 | 645 | 1962 | 980873-980990, 981002-981005, 981647-981650, 995536-995537, 995826, 995888, 995897, 995911-995912, 996123, 996158-996167, 996173-996182, 996186-996189, 996230-996258, 996266-996273, 996520-996732, 996824-996945, 997133-997206, 997218-997258 |
| 786 | FGFR3 | 4 | 0.89328388957561 | 259 | 2427 | 1795662-1795732, 1801203-1801204, 1803094-1803096, 1803112-1803118, 1803121, 1803127-1803132, 1803139-1803143, 1803253-1803263, 1803347-1803375, 1803444-1803450, 1803453, 1803456, 1803463, 1806162, 1806628, 1806643, 1806649-1806652, 1808568, 1808584, 1808635-1808661, 1808843-1808853, 1808889-1808918, 1808946-1808982 |
| 787 | SH3BP2 | 4 | 0.88906838987614 | 206 | 1857 | 2819951-2820117, 2831383, 2831490-2831504, 2835509-2835531 |
| 788 | HTT | 4 | 0.96881959910913 | 294 | 9429 | 3076553-3076603, 3076604-3076813, 3123082, 3123086-3123092, 3123095, 3123103-3123106, 3123110-3123111, 3213780-3213785, 3231747-3231755, 3234959, 3234972, 3240323 |
| 789 | DOK7 | 4 | 0.91749174917492 | 125 | 1515 | 3465103-3465156, 3465233-3465278, 3475208, 3475221, 3478141, 3478200-3478206, 3478244, 3478266, 3487373-3487376, 3494662-3494666, 3494707, 3494845, 3494848, 3495149 |
| 790 | DOK7 | 4 | 0.98646362098139 | 8 | 591 | 3494662-3494666, 3494707, 3494845, 3494848 |
| 791 | MSX1 | 4 | 0.64912280701754 | 320 | 912 | 4861627-4861924, 4861952, 4861958-4861969, 4861974, 4862040, 4862065, 4864511-4864514, 4864517, 4864803 |
| 792 | EVC2 | 4 | 0.9737713267125 | 103 | 3927 | 5570280-5570282, 5578068, 5578072, 5578081-5578083, 5578112-5578114, 5578120-5578128, 5633577-5633613, 5710034-5710036, 5710112-5710115, 5710120-5710124, 5710126-5710128, 5710142-5710147, 5710201-5710211, 5710216, 5710222-5710228, 5710231-5710236 |
| 793 | EVC | 4 | 0.90500167841558 | 283 | 2979 | 5713108-5713270, 5754729-5754773, 5755591-5755639, 5800360, 5800383, 5800388, 5809971-5809992, 5810042 |
| 794 | WFS1 | 4 | 0.98728020950243 | 34 | 2673 | 6303265, 6303271, 6303338-6303349, 6303352, 6303536, 6303548, 6303553-6303554, 6303780, 6303878-6303882, 6303885-6303889, 6303891-6303894 |
| 795 | SLC2A9 | 4 | 0.99568699938386 | 7 | 1623 | 9943667, 9982234, 9982259, 9982263, 9982266, 9982299, 10020600 |
| 796 | QDPR | 4 | 0.86666666666667 | 98 | 735 | 17513573-17513596, 17513604-17513677 |
| 797 | CNGA1 | 4 | 0.96491228070175 | 80 | 2280 | 47945295, 47954600-47954659, 47954667, 47954676-47954682, 47954685, 47973031, 47973093-47973097, 47973107-47973110 |
| 798 | SGCB | 4 | 0.96029258098224 | 38 | 957 | 52895873-52895877, 52904393-52904425 |
| 799 | PDGFRA | 4 | 0.99969418960245 | 1 | 3270 | 55130026 |
| 800 | KIT | 4 | 0.99761173660867 | 7 | 2931 | 55524236-55524241, 55598100 |
| 801 | SLC4A4 | 4 | 0.98812785388128 | 39 | 3285 | 72306441-72306479 |
| 802 | ALB | 4 | 0.99180327868852 | 15 | 1830 | 74276105-74276106, 74279200-74279212 |
| 803 | COQ2 | 4 | 0.9038961038961 | 111 | 1155 | 84205712-84205726, 84205738-84205782, 84205846, 84205850-84205856, 84205866-84205876, 84205880-84205882, 84205887-84205889, 84205893-84205894, 84205897, 84205899-84205906, 84205915-84205928, 84205931 |
| 804 | CDS1 | 4 | 0.98051948051948 | 27 | 1386 | 85504576-85504583, 85504586, 85504591-85504606, 85556417, 85556503 |
| 805 | PKD2 | 4 | 0.82456140350877 | 510 | 2907 | 88928886-88929353, 88929364-88929403, 88929430-88929431 |
| 806 | SNCA | 4 | 0.98817966903073 | 5 | 423 | 90756702-90756703, 90756706-90756708 |
| 807 | MTTP | 4 | 0.99851024208566 | 4 | 2685 | 100528026-100528028, 100530014 |
| 808 | MANBA | 4 | 0.97878787878788 | 56 | 2640 | 103610736-103610772, 103610840-103610841, 103681939-103681942, 103681992-103681993, 103681999, 103682007-103682014, 103682019-103682020 |
| 809 | CISD2 | 4 | 0.94117647058824 | 24 | 408 | 103808506-103808522, 103808569-103808575 |
| 810 | TACR3 | 4 | 0.98569384835479 | 20 | 1398 | 104640738, 104640743-104640761 |
| 811 | HADH | 4 | 0.9989417989418 | 1 | 945 | 108930921 |
| 812 | CFI | 4 | 0.98059360730594 | 34 | 1752 | 110723082-110723115 |
| 813 | PITX2 | 4 | 0.99794871794872 | 2 | 975 | 111539736-111539737 |
| 814 | ANK2 | 4 | 0.99941047667172 | 7 | 11874 | 114161720-114161723, 114170952, 114179477, 114213601 |
| 815 | BBS7 | 4 | 0.99208566108007 | 17 | 2148 | 122749815-122749822, 122775878, 122782697, 122782750-122782755, 122782800 |
| 816 | MMAA | 4 | 0.97772474144789 | 28 | 1257 | 146576559-146576586 |
| 817 | NR3C2 | 4 | 0.9989847715736 | 3 | 2955 | 149075982-149075984 |
| 818 | CTSO | 4 | 0.9120082815735 | 85 | 966 | 156863550-156863553, 156863585, 156863601, 156864378-156864385, 156874869-156874879, 156874883, 156874896-156874899, 156874931-156874949, 156874962-156874988, 156874991-156874999 |
| 819 | GLRB | 4 | 0.97925033467202 | 31 | 1494 | 158041712, 158041715-158041740, 158060017-158060020 |
| 820 | GK | 4 | 0.99037304452467 | 16 | 1662 | 166199386-166199392, 166199429, 166199809-166199816 |
| 821 | AGA | 4 | 0.9731027857829 | 28 | 1041 | 178359899-178359922, 178361429-178361432 |
| 822 | SLC25A4 | 4 | 0.87625418060201 | 111 | 897 | 186064527-186064637 |
| 823 | SDHA | 5 | 0.93583959899749 | 128 | 1995 | 218472-218526, 228412-228418, 231111, 251107-251114, 251143-251149, 251190-251218, 251500-251506, 254526-254532, 254571-254577 |
| 824 | SLC6A19 | 5 | 0.99265091863517 | 14 | 1905 | 1201833-1201843, 1201853-1201854, 1216775 |
| 825 | TERT | 5 | 0.85172109443954 | 504 | 3399 | 1279505, 1293450, 1293602, 1293754-1293760, 1293986-1293988, 1294256-1294258, 1294263, 1294267-1294269, 1294272, 1294277-1294278, 1294353-1294362, 1294404, 1294480-1294481, 1294533-1294781, 1294886-1295104 |
| 826 | SLC6A3 | 5 | 0.99087493290392 | 17 | 1863 | 1403117-1403121, 1414806-1414807, 1414811-1414818, 1422028, 1422129 |
| 827 | SDHA | 5 | 0.81651376146789 | 60 | 327 | 1594510-1594569 |
| 828 | NDUFS6 | 5 | 0.97866666666667 | 8 | 375 | 1801533-1801538, 1801580, 1801585 |
| 829 | MTRR | 5 | 0.98576675849403 | 31 | 2178 | 7869278-7869282, 7883322-7883347 |
| 830 | CCT5 | 5 | 0.99938499384994 | 1 | 1626 | 10250545 |
| 831 | DNAH5 | 5 | 0.98695495495495 | 181 | 13875 | 13766227-13766228, 13766239, 13810191-13810198, 13810209-13810213, 13810226, 13810242-13810271, 13810282-13810323, 13901466-13901468, 13916457-13916543, 13919314, 13922324 |
| 832 | ANKH | 5 | 0.99594320486815 | 6 | 1479 | 14871462, 14871467, 14871471-14871474 |
| 833 | FAM134B | 5 | 0.82998661311914 | 254 | 1494 | 16483474-16483479, 16616779-16616876, 16616883-16616909, 16616939-16616973, 16616976-16616977, 16616983, 16616996-16617080 |
| 834 | AMACR | 5 | 0.94604003481288 | 62 | 1149 | 34007878-34007887, 34007912-34007917, 34007921-34007922, 34007934-34007959, 34007973, 34007976-34007980, 34007995, 34007999-34008005, 34008019, 34008025-34008027 |
| 835 | NIPBL | 5 | 0.98110516934046 | 159 | 8415 | 37022462, 37036489-37036589, 37048608-37048619, 37048622-37048625, 37048633-37048672, 37048696 |
| 836 | LIFR | 5 | 0.99757134183364 | 8 | 3294 | 38493803, 38506148-38506152, 38506163-38506164 |
| 837 | OXCT1 | 5 | 0.99488163787588 | 8 | 1563 | 41803218-41803225 |
| 838 | GHR | 5 | 0.99634846113719 | 7 | 1917 | 42719134-42719140 |
| 839 | FGF10 | 5 | 0.99681020733652 | 2 | 627 | 44388491, 44388504 |
| 840 | ITGA2 | 5 | 0.99266779469825 | 26 | 3546 | 52285305, 52285309-52285320, 52285324-52285335, 52386429 |
| 841 | MOCS2 | 5 | 0.98501872659176 | 4 | 267 | 52405552-52405555 |
| 842 | ERCC8 | 5 | 0.98992443324937 | 12 | 1191 | 60200638, 60200644-60200653, 60200665 |
| 843 | NDUFAF2 | 5 | 0.98823529411765 | 6 | 510 | 60448585-60448586, 60448589, 60448592, 60448653, 60448660 |
| 844 | SMN2 | 5 | 0.9954802259887 | 4 | 885 | 69362949, 69372353, 69372394, 69372397 |
| 845 | SMN2 | 5 | 0.99661016949153 | 3 | 885 | 70238373, 70247814, 70247817 |
| 846 | MCCC2 | 5 | 0.99586288416076 | 7 | 1692 | 70922482-70922488 |
| 847 | HEXB | 5 | 0.88150807899461 | 198 | 1671 | 73981086-73981158, 73981210-73981219, 73981223-73981285, 73981294, 73981299-73981316, 73981323, 73981343-73981374 |
| 848 | AP3B1 | 5 | 0.9972602739726 | 9 | 3285 | 77412012-77412016, 77523268, 77563362, 77563367, 77563378 |
| 849 | ARSB | 5 | 0.80524344569288 | 312 | 1602 | 78280760-78281071 |
| 850 | VCAN | 5 | 0.99980374840546 | 2 | 10191 | 82834630, 82876221 |
| 851 | RASA1 | 5 | 0.89726463104326 | 323 | 3144 | 86564303-86564345, 86564403-86564404, 86564407, 86564547, 86564664-86564673, 86564694-86564740, 86564775-86564781, 86627206-86627255, 86658450, 86669980-86670137, 86685338, 86685341-86685342 |
| 852 | MEF2C | 5 | 0.99789029535865 | 3 | 1422 | 88024372, 88024386-88024387 |
| 853 | GPR98 | 5 | 0.99429205644522 | 108 | 18921 | 89854716-89854720, 89914965, 89914994, 89925126-89925127, 89925183, 89981614, 89981630-89981633, 89981644-89981649, 89981717-89981769, 90012365-90012373, 90015996-90016005, 90016014-90016018, 90049582, 90049610, 90144577-90144578, 90144581-90144582, 90144592-90144594, 90144600 |
| 854 | PCSK1 | 5 | 0.99557913351017 | 10 | 2262 | 95744020-95744022, 95746569-95746575 |
| 855 | WDR36 | 5 | 0.99894957983193 | 3 | 2856 | 110436369-110436370, 110436412 |
| 856 | APC | 5 | 0.99976558837318 | 2 | 8532 | 112111326-112111327 |
| 857 | HSD17B4 | 5 | 0.99909543193125 | 2 | 2211 | 118814716, 118835211 |
| 858 | ALDH7A1 | 5 | 0.99074074074074 | 15 | 1620 | 125904038-125904048, 125930838-125930841 |
| 859 | LMNB1 | 5 | 0.93867120954003 | 108 | 1761 | 126113201-126113222, 126113241-126113283, 126113288, 126113293-126113294, 126113357, 126113376-126113379, 126113443-126113454, 126113460, 126113463-126113473, 126113479-126113488, 126113547 |
| 860 | FBN2 | 5 | 0.99233321890376 | 67 | 8739 | 127597447, 127644995, 127644998-127644999, 127645720, 127645748, 127645753, 127645759, 127645771, 127702112, 127728875, 127873072-127873079, 127873106-127873147, 127873228, 127873232, 127873238, 127873294-127873296 |
| 861 | SLC22A5 | 5 | 0.95937873357228 | 68 | 1674 | 131705694-131705697, 131705700-131705701, 131705705-131705706, 131705800-131705806, 131705825-131705850, 131705862, 131705873-131705876, 131705879, 131705949-131705957, 131705965, 131721083-131721085, 131729461-131729468 |
| 862 | TGFBI | 5 | 0.9537037037037 | 95 | 2052 | 135364745-135364791, 135364803-135364813, 135364834-135364869, 135396523 |
| 863 | MYOT | 5 | 0.9752839011356 | 37 | 1497 | 137221784, 137221791, 137221803, 137221813-137221820, 137221829-137221835, 137222915-137222917, 137222919, 137222932, 137222935-137222947, 137222975 |
| 864 | SIL1 | 5 | 0.98412698412698 | 22 | 1386 | 138282887-138282901, 138282909-138282915 |
| 865 | MATR3 | 5 | 0.99410377358491 | 15 | 2544 | 138643163-138643168, 138651826-138651829, 138658521, 138658524, 138658527-138658529 |
| 866 | DIAPH1 | 5 | 0.94684472374967 | 203 | 3819 | 140896527-140896529, 140953305-140953338, 140953350-140953367, 140953375-140953403, 140953408, 140953411-140953419, 140953437, 140953440-140953443, 140953451, 140953454-140953459, 140953483-140953503, 140953513-140953539, 140953549-140953551, 140953555, 140953561-140953578, 140953598, 140953706, 140960418-140960421, 140998422-140998429, 140998432, 140998443-140998446, 140998451, 140998463-140998464, 140998467-140998470, 140998473 |
| 867 | POU4F3 | 5 | 0.96558505408063 | 35 | 1017 | 145718786, 145719155-145719159, 145719328-145719329, 145719556-145719560, 145719563-145719565, 145719569-145719570, 145719573-145719579, 145719947-145719956 |
| 868 | PPP2R2B | 5 | 0.9984984984985 | 2 | 1332 | 146077640, 146077643 |
| 869 | ADRB2 | 5 | 0.99597423510467 | 5 | 1242 | 148206471, 148206473, 148206917, 148207632-148207633 |
| 870 | SH3TC2 | 5 | 0.99663822084303 | 13 | 3867 | 148384416, 148384419, 148407391-148407396, 148407402, 148407406-148407409 |
| 871 | PDE6A | 5 | 0.99961285327139 | 1 | 2583 | 149240500 |
| 872 | TCOF1 | 5 | 0.99724517906336 | 12 | 4356 | 149737313-149737314, 149737317-149737318, 149754975-149754979, 149755108, 149755803, 149756171 |
| 873 | ITK | 5 | 0.99409554482018 | 11 | 1863 | 156679617-156679627 |
| 874 | NIPAL4 | 5 | 0.98429693076374 | 22 | 1401 | 156887230-156887234, 156887242, 156887246-156887251, 156887255-156887257, 156887285-156887291 |
| 875 | IL12B | 5 | 0.99696048632219 | 3 | 987 | 158749428-158749429, 158749432 |
| 876 | NKX2-5 | 5 | 0.93333333333333 | 65 | 975 | 172659909, 172659912-172659913, 172660025-172660030, 172660041-172660044, 172660122-172660123, 172660201-172660204, 172661859-172661880, 172661905, 172661913-172661914, 172661988-172662007, 172662019 |
| 877 | MSX2 | 5 | 0.85945273631841 | 113 | 804 | 174151705-174151782, 174151807, 174151812, 174151884-174151893, 174151898-174151920 |
| 878 | NSD1 | 5 | 0.99950562353232 | 4 | 8091 | 176662907-176662910 |
| 879 | F12 | 5 | 0.9639175257732 | 21 | 582 | 176830303-176830323 |
| 880 | F12 | 5 | 0.9534632034632 | 86 | 1848 | 176830303-176830323, 176830520-176830567, 176830958-176830969, 176831249-176831251, 176831826, 176832067 |
| 881 | NHP2 | 5 | 0.99350649350649 | 3 | 462 | 177576714-177576716 |
| 882 | GRM6 | 5 | 0.83523158694002 | 434 | 2634 | 178413884-178413888, 178413892, 178415999-178416001, 178421501-178421520, 178421527-178421541, 178421556-178421945 |
| 883 | SQSTM1 | 5 | 0.84504913076342 | 205 | 1323 | 179247937-179248141 |
| 884 | FLT4 | 5 | 0.94086021505376 | 242 | 4092 | 180038331-180038368, 180038472-180038478, 180045812, 180045816-180045821, 180045826, 180045851-180045857, 180045895-180045908, 180046022-180046048, 180046052-180046061, 180046108-180046109, 180046337-180046339, 180046343-180046351, 180046355-180046361, 180047998-180048006, 180056333-180056348, 180057026-180057035, 180057750-180057754, 180057761-180057763, 180057769, 180057772, 180057776-180057781, 180057785, 180076488-180076545 |
| 885 | FOXC1 | 6 | 0.39831528279182 | 1000 | 1662 | 1610723, 1610738-1610745, 1610748, 1610754, 1610759-1610762, 1610767-1610782, 1610791-1610798, 1610833, 1610846-1610849, 1610856-1610859, 1610872-1610878, 1610884-1610933, 1610975, 1610985-1610988, 1610990-1611001, 1611006-1611030, 1611040, 1611063, 1611066, 1611090-1611118, 1611126-1611133, 1611139, 1611145, 1611149, 1611163-1611167, 1611170-1611172, 1611177-1611196, 1611256, 1611259, 1611279-1612045, 1612057, 1612060, 1612063, 1612116, 1612123, 1612143, 1612154, 1612159-1612164 |
| 886 | TUBB2B | 6 | 0.93198804185351 | 91 | 1338 | 3225121-3225141, 3225144-3225152, 3225216-3225220, 3225457-3225496, 3225576, 3225580, 3227721, 3227725-3227728, 3227769-3227777 |
| 887 | DSP | 6 | 0.99756267409471 | 21 | 8616 | 7542195, 7542214, 7542219-7542220, 7542271, 7542274-7542276, 7563971-7563974, 7572204-7572211, 7586012 |
| 888 | TFAP2A | 6 | 0.9855403348554 | 19 | 1314 | 10398770, 10398781, 10398796, 10398860-10398861, 10404770, 10404806-10404810, 10410357-10410360, 10410517-10410520 |
| 889 | DTNBP1 | 6 | 0.93844696969697 | 65 | 1056 | 15533486, 15533503, 15533524-15533530, 15663045-15663100 |
| 890 | ATXN1 | 6 | 0.95057189542484 | 121 | 2448 | 16307012-16307018, 16327372-16327374, 16327507-16327511, 16327514, 16327540-16327543, 16327591-16327596, 16327603, 16327615, 16327618, 16327655-16327661, 16327830, 16327853-16327914, 16327926, 16327931-16327934, 16327936-16327940, 16327944-16327945, 16327950-16327959 |
| 891 | NHLRC1 | 6 | 0.96127946127946 | 46 | 1188 | 18122544-18122548, 18122672-18122701, 18122716, 18122719-18122727, 18122835 |
| 892 | ALDH5A1 | 6 | 0.9077109896782 | 152 | 1647 | 24495266, 24495281-24495282, 24495307-24495314, 24495318-24495323, 24495334-24495418, 24495422-24495425, 24495432, 24495437-24495447, 24495467-24495468, 24495472-24495473, 24495477-24495480, 24495503-24495506, 24495512-24495522, 24495528-24495532, 24495540-24495541, 24495544, 24495569-24495571 |
| 893 | HLA-H | 6 | 0.672 | 246 | 750 | 29855764-29855784, 29855792-29855801, 29855804-29855811, 29855820, 29855830-29855840, 29855845, 29855848-29855853, 29855860, 29855863, 29855869, 29855872-29855881, 29855894-29855903, 29855940, 29855949-29855950, 29855964-29855966, 29855975-29855982, 29855989-29856001, 29856290-29856299, 29856303-29856304, 29856309-29856342, 29856345-29856358, 29856361, 29856366, 29856382-29856387, 29856391-29856408, 29856421, 29856426-29856427, 29856431-29856439, 29856441-29856442, 29856445, 29856448-29856449, 29856501-29856534, 29856686 |
| 894 | TNXB | 6 | 0.87765681700363 | 236 | 1929 | 31976396, 31976400, 31976403, 31976896-31976929, 31977164-31977170, 31977388-31977395, 31977528, 31977548, 31977552, 31977786-31977792, 31977995-31978001, 31978094-31978124, 31978259-31978265, 31978498-31978517, 31978774-31978793, 31979420-31979453, 31979470-31979476, 31979518, 31979524-31979529, 31979599-31979639 |
| 895 | CYP21A2 | 6 | 0.91733870967742 | 123 | 1488 | 32006200-32006202, 32006208-32006254, 32006568, 32006958, 32006961-32006966, 32006986-32006989, 32007404-32007410, 32007843-32007849, 32008448-32008454, 32008701-32008729, 32008751, 32008754-32008756, 32008901-32008907 |
| 896 | TNXB | 6 | 0.98483777201665 | 193 | 12729 | 32009648-32009664, 32009793, 32009899-32009905, 32010123-32010130, 32010520-32010526, 32010729-32010735, 32010849, 32010855, 32010858, 32010993-32010999, 32011232-32011251, 32012261-32012307, 32012324-32012330, 32012480-32012481, 32029218, 32029224-32029230, 32037425, 32046826-32046828, 32047088-32047091, 32063560-32063577, 32063935-32063936, 32063950, 32063956, 32063959, 32064143, 32064299-32064306, 32064314-32064315, 32064319-32064320, 32064335, 32064514-32064515, 32064562-32064566 |
| 897 | HLA-DQA1 | 6 | 0.86588541666667 | 103 | 768 | 32605266, 32605271-32605280, 32605285, 32605289-32605298, 32609813, 32609952, 32609969, 32609974, 32610002, 32610009, 32610387-32610406, 32610420, 32610423, 32610428-32610438, 32610441, 32610445, 32610461, 32610492, 32610495-32610512, 32610522-32610541 |
| 898 | HLA-DQB1 | 6 | 0.38931297709924 | 480 | 786 | 32629124-32629180, 32629190-32629234, 32629744-32629782, 32629796-32629802, 32629807-32629822, 32629826-32629830, 32629846-32629856, 32629859, 32629877-32629879, 32629955, 32630019-32630025, 32632575-32632809, 32632824-32632844, 32634288-32634292, 32634312-32634315, 32634318-32634324, 32634334-32634341, 32634363-32634367, 32634373, 32634376-32634377 |
| 899 | COL11A2 | 6 | 0.98176933410094 | 95 | 5211 | 33138139-33138140, 33138147, 33138150, 33140077-33140082, 33140094-33140096, 33140106-33140109, 33140126-33140135, 33140154, 33140333, 33140341, 33140344-33140373, 33140379-33140380, 33140385-33140388, 33140397, 33140402-33140413, 33141672, 33141680-33141687, 33141690, 33146112-33146115, 33159967, 33159999 |
| 900 | SYNGAP1 | 6 | 0.88740079365079 | 454 | 4032 | 33388042-33388108, 33393575-33393680, 33399973, 33400004, 33400577, 33405829, 33410906, 33410909, 33411166-33411167, 33411174, 33411212, 33411226-33411234, 33411273, 33411287-33411289, 33411450-33411698, 33411718-33411725, 33419600 |
| 901 | FANCE | 6 | 0.91495965238982 | 137 | 1611 | 35420323-35420445, 35420477-35420480, 35420490-35420491, 35420532-35420536, 35420547, 35420559, 35423861 |
| 902 | TULP1 | 6 | 0.97667280540209 | 38 | 1629 | 35473872, 35478649-35478657, 35479474-35479476, 35479497-35479501, 35479513-35479520, 35479563-35479564, 35479574, 35480020-35480022, 35480035-35480040 |
| 903 | MOCS1 | 6 | 0.99372056514914 | 12 | 1911 | 39874425-39874435, 39883969 |
| 904 | PRPH2 | 6 | 0.99807877041306 | 2 | 1041 | 42672169, 42689775 |
| 905 | PEX6 | 6 | 0.93306150186884 | 197 | 2943 | 42946363-42946364, 42946403-42946413, 42946423, 42946426-42946428, 42946464-42946474, 42946532, 42946539-42946547, 42946550-42946552, 42946570-42946571, 42946590-42946591, 42946597-42946669, 42946676-42946677, 42946693-42946698, 42946707-42946737, 42946745, 42946749, 42946763-42946800 |
| 906 | CUL7 | 6 | 0.99921522464195 | 4 | 5097 | 43008306-43008307, 43008317, 43008743 |
| 907 | RSPH9 | 6 | 0.77617328519856 | 186 | 831 | 43612842-43612851, 43612860-43612928, 43612939-43612982, 43612988-43613029, 43613039-43613059 |
| 908 | RUNX2 | 6 | 0.86781609195402 | 207 | 1566 | 45390330-45390536 |
| 909 | MUT | 6 | 0.99378606302708 | 14 | 2253 | 49409566, 49409633, 49409670, 49415389-49415391, 49419348, 49421377-49421380, 49421384, 49421435-49421436 |
| 910 | PKHD1 | 6 | 0.99697341513292 | 37 | 12225 | 51484009, 51484013, 51497363-51497369, 51497414-51497438, 51889717-51889718, 51889777 |
| 911 | EYS | 6 | 0.99841017488076 | 15 | 9435 | 65149182-65149188, 65523343, 65523400, 65523423, 65523426-65523429, 66204712 |
| 912 | LMBRD1 | 6 | 0.98521256931608 | 24 | 1623 | 70410713, 70410734, 70506741-70506747, 70506753-70506763, 70506770-70506773 |
| 913 | COL9A1 | 6 | 0.99891540130152 | 3 | 2766 | 70942421-70942423 |
| 914 | RIMS1 | 6 | 0.95924394565859 | 207 | 5079 | 72596750, 72596753-72596758, 72889482, 72892044-72892045, 72892068-72892070, 72892088-72892090, 72892128, 72892310, 72892315-72892316, 72892327-72892341, 72892343-72892350, 72892355, 72892363-72892390, 72892409-72892452, 72892470-72892481, 72892515, 72892518-72892523, 72892540, 72892549-72892553, 72892593, 72892599-72892600, 72892603-72892612, 72892778-72892817, 73017040, 73108766, 73108771-73108780, 73108796 |
| 915 | SLC17A5 | 6 | 0.93682795698925 | 94 | 1488 | 74363516-74363609 |
| 916 | LCA5 | 6 | 0.99856733524355 | 3 | 2094 | 80196773, 80196848, 80196851 |
| 917 | ELOVL4 | 6 | 0.9968253968254 | 3 | 945 | 80656986, 80656993-80656994 |
| 918 | BCKDHB | 6 | 0.99151823579304 | 10 | 1179 | 80877438-80877442, 80881071, 80881074-80881075, 80881089, 80881107 |
| 919 | NDUFAF4 | 6 | 0.96590909090909 | 18 | 528 | 97339042-97339046, 97339078, 97339109-97339116, 97339133-97339135, 97339144 |
| 920 | SIM1 | 6 | 0.99826162538027 | 4 | 2301 | 100897506-100897509 |
| 921 | PDSS2 | 6 | 0.99166666666667 | 10 | 1200 | 107531748-107531751, 107780274-107780275, 107780283-107780286 |
| 922 | SEC63 | 6 | 0.94875164257556 | 117 | 2283 | 108224186, 108279090-108279104, 108279113-108279213 |
| 923 | OSTM1 | 6 | 0.87064676616915 | 130 | 1005 | 108395566, 108395570-108395572, 108395580, 108395617-108395621, 108395630, 108395730-108395765, 108395771-108395853 |
| 924 | COL10A1 | 6 | 0.95447870778267 | 93 | 2043 | 116441744, 116441748, 116442287-116442334, 116442365-116442406, 116442466 |
| 925 | RSPH4A | 6 | 0.99860529986053 | 3 | 2151 | 116938381-116938382, 116938385 |
| 926 | GJA1 | 6 | 0.99564838990426 | 5 | 1149 | 121769097-121769100, 121769103 |
| 927 | LAMA2 | 6 | 0.9951938481256 | 45 | 9363 | 129635919, 129670524, 129674348-129674390 |
| 928 | ENPP1 | 6 | 0.94096472282217 | 164 | 2778 | 132129176-132129276, 132129291, 132129310, 132129361, 132129363-132129369, 132129372-132129375, 132190560-132190562, 132203485-132203500, 132203527-132203533, 132203548-132203561, 132203566, 132203568-132203575 |
| 929 | EYA4 | 6 | 0.990625 | 18 | 1920 | 133767858, 133769265-133769269, 133769290-133769294, 133777745-133777749, 133777752-133777753 |
| 930 | AHI1 | 6 | 0.99888610414926 | 4 | 3591 | 135759579, 135759590-135759592 |
| 931 | PEX7 | 6 | 0.91358024691358 | 84 | 972 | 137143804-137143806, 137143816, 137143822-137143845, 137143855, 137143860-137143869, 137143876, 137143893-137143933, 137167265, 137219362-137219363 |
| 932 | IFNGR1 | 6 | 0.99931972789116 | 1 | 1470 | 137527410 |
| 933 | STX11 | 6 | 0.9375 | 54 | 864 | 144507769, 144507776, 144507793-144507796, 144507932, 144507986-144507998, 144508004-144508008, 144508037-144508039, 144508131, 144508139-144508147, 144508363-144508364, 144508373-144508380, 144508426-144508431 |
| 934 | EPM2A | 6 | 0.71084337349398 | 288 | 996 | 146056334-146056621 |
| 935 | IYD | 6 | 0.99540229885057 | 4 | 870 | 150719234-150719235, 150719244, 150719249 |
| 936 | SYNE1 | 6 | 0.99677957111465 | 85 | 26394 | 152454415, 152510436, 152545675-152545677, 152545779, 152545791-152545799, 152555084-152555091, 152644708, 152644715, 152644718, 152644721-152644724, 152644728, 152644735-152644745, 152665288-152665289, 152665294-152665296, 152702402, 152725441, 152737808-152737823, 152757131-152757132, 152757136, 152774726-152774730, 152774735-152774746 |
| 937 | PARK2 | 6 | 0.97210300429185 | 39 | 1398 | 161969938-161969945, 161969949-161969969, 161969972, 161969976-161969979, 163148694-163148698 |
| 938 | TBP | 6 | 0.94901960784314 | 52 | 1020 | 170871019-170871032, 170871036-170871040, 170871043, 170871046, 170871049, 170871051-170871060, 170871067-170871069, 170871073, 170871094-170871109 |
| 939 | LFNG | 7 | 0.61228070175439 | 442 | 1140 | 2559496-2559901, 2564366, 2564376, 2564875, 2564879-2564903, 2564916, 2565099-2565103, 2565113-2565114 |
| 940 | PMS2 | 7 | 0.98532251834685 | 38 | 2589 | 6013046-6013052, 6013149-6013156, 6022488, 6026999-6027005, 6029453-6029454, 6042134, 6043358-6043369 |
| 941 | TWIST1 | 7 | 0.43021346469622 | 347 | 609 | 19156537-19156547, 19156564-19156574, 19156577, 19156583-19156588, 19156627-19156944 |
| 942 | DNAH11 | 7 | 0.99720011788977 | 38 | 13572 | 21582983, 21583002, 21583024, 21583057-21583060, 21583186-21583208, 21630918, 21630922, 21630941, 21639527-21639529, 21678585, 21765517 |
| 943 | DFNA5 | 7 | 0.99865861837693 | 2 | 1491 | 24745973, 24758795 |
| 944 | HOXA1 | 7 | 0.98115079365079 | 19 | 1008 | 27135377-27135381, 27135386-27135388, 27135391-27135401 |
| 945 | HOXA13 | 7 | 0.56383890317052 | 509 | 1167 | 27238915-27238922, 27239074-27239080, 27239090, 27239095-27239097, 27239106-27239107, 27239110-27239115, 27239215-27239696 |
| 946 | GARS | 7 | 0.99774774774775 | 5 | 2220 | 30634712, 30634749, 30661080-30661082 |
| 947 | RP9 | 7 | 0.77177177177177 | 152 | 666 | 33148833-33148984 |
| 948 | GLI3 | 7 | 0.9628926839553 | 176 | 4743 | 42004714, 42004767-42004769, 42004772, 42005041, 42005101-42005108, 42005128, 42005215, 42005224, 42005229, 42005248, 42005252, 42005455, 42005470-42005476, 42005508, 42005528-42005529, 42005544-42005546, 42005560-42005562, 42005573, 42005578, 42005588-42005589, 42005595, 42005609-42005612, 42005619-42005632, 42005639, 42005658, 42005678, 42005683-42005690, 42005700-42005736, 42005797-42005798, 42005807, 42005846-42005850, 42005873-42005879, 42005904-42005905, 42005911-42005921, 42005939-42005941, 42005946-42005958, 42005961, 42005992-42005997, 42006018-42006021, 42006035-42006038, 42006042, 42006045-42006050, 42064866, 42088222 |
| 949 | GCK | 7 | 0.99928622412562 | 1 | 1401 | 44186147 |
| 950 | CCM2 | 7 | 0.9752808988764 | 33 | 1335 | 45039933-45039962, 45113151, 45113916, 45115420 |
| 951 | DDC | 7 | 0.99029799029799 | 14 | 1443 | 50530951-50530952, 50596954-50596961, 50597000-50597001, 50597005-50597006 |
| 952 | GRB10 | 7 | 0.99887955182073 | 2 | 1785 | 50682550, 50682553 |
| 953 | EGFR | 7 | 0.96229011835948 | 137 | 3633 | 55086971-55087058, 55220263-55220301, 55223564, 55259486-55259493, 55273153 |
| 954 | GUSB | 7 | 0.99795501022495 | 4 | 1956 | 65446971-65446973, 65447131 |
| 955 | ASL | 7 | 0.94551971326165 | 76 | 1395 | 65553856, 65553859, 65553866, 65553886-65553893, 65554079-65554080, 65554083-65554086, 65554098, 65554103-65554109, 65554125-65554162, 65554263-65554275 |
| 956 | KCTD7 | 7 | 0.83448275862069 | 144 | 870 | 66094052-66094195 |
| 957 | NCF1 | 7 | 0.97454545454545 | 21 | 825 | 72648730-72648750 |
| 958 | ELN | 7 | 0.96045977011494 | 86 | 2175 | 73442518-73442574, 73466273, 73466288, 73471992-73471995, 73471998, 73474301-73474308, 73474312, 73474316-73474327, 73477492 |
| 959 | NCF1 | 7 | 0.79369138959932 | 242 | 1173 | 74197385-74197404, 74202410-74202432, 74202903-74202923, 74202938-74203048, 74203397-74203446, 74203462, 74203489-74203504 |
| 960 | POR | 7 | 0.9652471855115 | 71 | 2043 | 75614213-75614225, 75614236-75614244, 75614247, 75614448-75614495 |
| 961 | HSPB1 | 7 | 0.86245954692557 | 85 | 618 | 75932161-75932164, 75932169-75932182, 75932189-75932193, 75932216, 75932230-75932231, 75932234, 75932254-75932264, 75932277-75932318, 75932387, 75932390-75932393 |
| 962 | HGF | 7 | 0.99222679469593 | 17 | 2187 | 81399251-81399260, 81399266-81399271, 81399287 |
| 963 | ABCB4 | 7 | 0.99375 | 24 | 3840 | 87031507-87031516, 87037425-87037433, 87074229-87074233 |
| 964 | AKAP9 | 7 | 0.99445581712726 | 65 | 11724 | 91609625-91609632, 91609635-91609638, 91690649-91690686, 91690711, 91690714-91690716, 91714862-91714870, 91732093-91732094 |
| 965 | KRIT1 | 7 | 0.99819086386251 | 4 | 2211 | 91852151-91852154 |
| 966 | PEX1 | 7 | 0.99221183800623 | 30 | 3852 | 92134163, 92157624-92157625, 92157655, 92157659-92157674, 92157724-92157729, 92157741-92157742, 92157746-92157747 |
| 967 | COL1A2 | 7 | 0.98390636430139 | 66 | 4101 | 94044565-94044572, 94049545-94049553, 94049910-94049911, 94049921-94049946, 94050329-94050342, 94056349, 94056502-94056503, 94056519, 94056521-94056522, 94058732 |
| 968 | SGCE | 7 | 0.99262536873156 | 10 | 1356 | 94252651, 94285386-94285394 |
| 969 | SLC25A13 | 7 | 0.99162973904481 | 17 | 2031 | 95751006, 95751292, 95951254-95951268 |
| 970 | TFR2 | 7 | 0.9621778886118 | 91 | 2406 | 100224491-100224492, 100224507-100224526, 100224967-100224970, 100225012-100225016, 100225031, 100230653-100230692, 100230712, 100230715, 100230901-100230906, 100231039, 100238638, 100238642, 100238651, 100238725, 100239121-100239125, 100239132 |
| 971 | SLC26A5 | 7 | 0.99776286353468 | 5 | 2235 | 103014967, 103017295, 103017299-103017301 |
| 972 | RELN | 7 | 0.99710899103787 | 30 | 10377 | 103191626-103191629, 103191632-103191635, 103212694, 103212698, 103244844, 103244868-103244879, 103244895, 103629729-103629730, 103629800-103629803 |
| 973 | SLC26A4 | 7 | 0.97695262483995 | 54 | 2343 | 107302100-107302119, 107302197-107302207, 107312618-107312621, 107312644, 107314720-107314722, 107323664-107323669, 107323672, 107323948-107323954, 107323966 |
| 974 | SLC26A3 | 7 | 0.97516339869281 | 57 | 2295 | 107432282-107432284, 107432287-107432293, 107432298, 107432330-107432375 |
| 975 | DLD | 7 | 0.99738562091503 | 4 | 1530 | 107556081-107556082, 107557866-107557867 |
| 976 | IFRD1 | 7 | 0.98377581120944 | 22 | 1356 | 112090815-112090819, 112090824-112090830, 112090834-112090835, 112101921-112101922, 112102126-112102128, 112102139, 112102193-112102194 |
| 977 | CFTR | 7 | 0.97771775827144 | 99 | 4443 | 117120188-117120191, 117120199-117120200, 117174333, 117182162, 117188713-117188753, 117188760-117188800, 117188847-117188853, 117235061, 117235070 |
| 978 | AASS | 7 | 0.99244875943905 | 21 | 2781 | 121721560-121721567, 121769489-121769490, 121769509-121769519 |
| 979 | IMPDH1 | 7 | 0.905 | 171 | 1800 | 128045847-128045851, 128045860-128045862, 128045866, 128045869-128045871, 128045881, 128045884-128045887, 128045894-128045903, 128045918-128045919, 128049814-128049955 |
| 980 | FLNC | 7 | 0.98141354854488 | 152 | 8178 | 128470692-128470736, 128470784, 128470834, 128470838-128470839, 128470866-128470873, 128470884-128470889, 128470912-128470914, 128470931-128470933, 128470963, 128470966-128470967, 128470976-128470977, 128471002-128471005, 128471011, 128471014, 128471039-128471043, 128477240, 128477243-128477252, 128477255, 128477260-128477265, 128477280-128477285, 128477291-128477292, 128477720-128477755, 128480712, 128482685-128482687, 128492758 |
| 981 | ATP6V0A4 | 7 | 0.96512088783195 | 88 | 2523 | 138394373-138394379, 138394383-138394388, 138394399-138394405, 138394412, 138394427-138394468, 138394486-138394510 |
| 982 | BRAF | 7 | 0.97566275532377 | 56 | 2301 | 140624390-140624425, 140624470-140624475, 140624490-140624503 |
| 983 | PRSS1 | 7 | 0.90860215053763 | 68 | 744 | 142459837-142459841, 142460310-142460338, 142460366-142460397, 142460744, 142460764 |
| 984 | CLCN1 | 7 | 0.99528142905292 | 14 | 2967 | 143039042, 143042695-143042701, 143043336-143043341 |
| 985 | CNTNAP2 | 7 | 0.99274274274274 | 29 | 3996 | 145813982-145813988, 145813994-145814005, 145814039, 146741109, 146805335-146805338, 147844739-147844742 |
| 986 | KCNH2 | 7 | 0.70258620689655 | 1035 | 3480 | 150644030, 150644033-150644035, 150644041-150644045, 150644084-150644118, 150644125-150644142, 150644418-150644419, 150644423-150644435, 150644445-150644450, 150644458-150644464, 150644466-150644468, 150644472-150644486, 150644518-150644520, 150644577-150644602, 150644694-150644802, 150644808-150644832, 150644854, 150644909-150644941, 150645532-150645540, 150645549, 150645565-150645571, 150645582-150645593, 150645607-150645609, 150648785-150648792, 150648875-150648916, 150654535, 150654568, 150655147-150655161, 150655201-150655531, 150655538-150655541, 150655547-150655548, 150655551-150655558, 150655590, 150671821-150672029, 150674926-150675001 |
| 987 | PRKAG2 | 7 | 0.95321637426901 | 80 | 1710 | 151273500-151273509, 151329155-151329224 |
| 988 | SHH | 7 | 0.60979121670266 | 542 | 1389 | 155595594-155596084, 155596090-155596123, 155596199-155596215 |
| 989 | MNX1 | 7 | 0.2346600331675 | 923 | 1206 | 156798214-156798514, 156799257-156799303, 156802354-156802376, 156802386-156802410, 156802423, 156802427, 156802430-156802433, 156802448-156802454, 156802462, 156802466-156802474, 156802492-156802493, 156802516-156802541, 156802550-156802557, 156802567-156802570, 156802574, 156802582-156803044 |
| 990 | CLN8 | 8 | 0.97677119628339 | 20 | 861 | 1728671, 1728696-1728714 |
| 991 | GATA4 | 8 | 0.66741911211437 | 442 | 1329 | 11565874-11565903, 11565906-11565911, 11565914-11565917, 11565945, 11565951, 11565954-11565961, 11565981-11566370, 11566395, 11566403 |
| 992 | TUSC3 | 8 | 0.9694364851958 | 32 | 1047 | 15397966-15397970, 15397977-15397994, 15398006-15398008, 15398023-15398026, 15398029, 15398039 |
| 993 | LPL | 8 | 0.99929971988796 | 1 | 1428 | 19797031 |
| 994 | SFTPC | 8 | 0.996632996633 | 2 | 594 | 22021417, 22021437 |
| 995 | NEFL | 8 | 0.96323529411765 | 60 | 1632 | 24813126, 24813236-24813237, 24813400, 24813406, 24813411-24813421, 24813423-24813425, 24813467, 24813501-24813504, 24813517, 24813590-24813591, 24813596-24813599, 24813659-24813671, 24813726, 24813867, 24813921, 24813935, 24813963, 24814001-24814010, 24814025 |
| 996 | CHRNA2 | 8 | 0.99119496855346 | 14 | 1590 | 27320610-27320619, 27320864, 27320977, 27320980, 27321175 |
| 997 | FGFR1 | 8 | 0.9995939910678 | 1 | 2463 | 38287403 |
| 998 | ANK1 | 8 | 0.98173515981735 | 104 | 5694 | 41530307, 41581090, 41583329, 41583400-41583403, 41583409, 41583424-41583428, 41583440-41583441, 41753874-41753879, 41753883, 41753890-41753893, 41753904-41753954, 41753958-41753969, 41753984-41753998 |
| 999 | THAP1 | 8 | 0.99376947040498 | 4 | 642 | 42693192, 42693210, 42698197-42698198 |
| 1000 | HGSNAT | 8 | 0.92872117400419 | 136 | 1908 | 42995640-42995757, 43025805-43025822 |
| 1001 | RP1 | 8 | 0.99938185751816 | 4 | 6471 | 55533579-55533581, 55533824 |
| 1002 | CHD7 | 8 | 0.98154325105626 | 166 | 8994 | 61654473-61654476, 61654510, 61654517, 61654710-61654713, 61654716-61654718, 61654738-61654748, 61713043, 61734369-61734416, 61734434-61734465, 61734583-61734599, 61734608-61734641, 61734665, 61734680-61734683, 61734704, 61778265-61778268 |
| 1003 | TTPA | 8 | 0.78972520908005 | 176 | 837 | 63998378-63998379, 63998407-63998580 |
| 1004 | CYP7B1 | 8 | 0.94674556213018 | 81 | 1521 | 65711052-65711126, 65711135-65711140 |
| 1005 | TMEM70 | 8 | 0.98722860791826 | 10 | 783 | 74888567, 74888597, 74888600, 74888648-74888651, 74888654, 74888659, 74888663 |
| 1006 | CA2 | 8 | 0.95657726692209 | 34 | 783 | 86376311-86376344 |
| 1007 | NBN | 8 | 0.97880794701987 | 48 | 2265 | 90960111-90960115, 90967547-90967552, 90996753-90996789 |
| 1008 | TMEM67 | 8 | 0.99866131191432 | 4 | 2988 | 94768006-94768007, 94777662, 94777703 |
| 1009 | GDF6 | 8 | 0.58698830409357 | 565 | 1368 | 97156920-97156935, 97156988-97156991, 97157002, 97157009-97157010, 97157128-97157540, 97157554-97157569, 97157574-97157598, 97157617-97157622, 97157630, 97157641, 97157644-97157652, 97157660-97157671, 97172675-97172684, 97172711, 97172757-97172791, 97172890, 97172893, 97172897-97172899, 97172902-97172907, 97172914, 97172917 |
| 1010 | VPS13B | 8 | 0.99349674837419 | 78 | 11994 | 100123366, 100123390-100123436, 100123451-100123477, 100160071, 100844803, 100880652 |
| 1011 | DPYS | 8 | 0.85897435897436 | 220 | 1560 | 105478885-105478913, 105478919-105478920, 105478923-105478926, 105478936-105478938, 105478943, 105478952-105478962, 105478974-105479093, 105479099-105479148 |
| 1012 | TRPS1 | 8 | 0.9997425997426 | 1 | 3885 | 116599322 |
| 1013 | TNFRSF11B | 8 | 0.99917081260365 | 1 | 1206 | 119945281 |
| 1014 | KIAA0196 | 8 | 0.99971264367816 | 1 | 3480 | 126091159 |
| 1015 | KCNQ3 | 8 | 0.92821687667048 | 188 | 2619 | 133492394-133492395, 133492407-133492408, 133492415, 133492427, 133492436-133492438, 133492443, 133492496, 133492502, 133492513-133492514, 133492567, 133492570-133492575, 133492584-133492615, 133492621-133492626, 133492644-133492653, 133492661-133492779 |
| 1016 | TG | 8 | 0.99855543517515 | 12 | 8307 | 133882044, 133882071, 133883738, 133912569, 133912575, 133912579-133912583, 133913695, 134031856 |
| 1017 | NDRG1 | 8 | 0.9704641350211 | 35 | 1185 | 134251162, 134251170, 134274290-134274322 |
| 1018 | SLURP1 | 8 | 0.86858974358974 | 41 | 312 | 143822592-143822632 |
| 1019 | CYP11B1 | 8 | 0.93187830687831 | 103 | 1512 | 143956374-143956421, 143956690-143956709, 143957163, 143957210-143957212, 143958572-143958602 |
| 1020 | CYP11B2 | 8 | 0.96164021164021 | 58 | 1512 | 143993946-143993965, 143993979-143993994, 143994041, 143994223-143994227, 143994276-143994283, 143994733-143994739, 143999033 |
| 1021 | PLEC | 8 | 0.79131981501245 | 2933 | 14055 | 144990378, 144990476-144990479, 144990497-144990504, 144990609-144990611, 144990754-144990769, 144990799, 144990808, 144991030-144991031, 144991178-144991184, 144991873, 144992226-144992233, 144992317-144992322, 144992325, 144992329, 144992336-144992339, 144992374-144992413, 144992459-144992464, 144992564, 144992567, 144992571, 144992590-144992591, 144992689-144992692, 144992698, 144992702-144992717, 144992791-144992796, 144992817-144992827, 144992833-144992834, 144992839, 144992845-144992849, 144993061, 144993065, 144993235, 144993245-144993251, 144993374, 144993385-144993391, 144993401-144993404, 144993613-144993620, 144993704-144993709, 144993714, 144993716, 144993718-144993721, 144993729-144993735, 144993807-144993812, 144993941-144993973, 144994357-144994366, 144994373-144994380, 144994390-144994403, 144994406, 144994769, 144994779, 144994982, 144994986-144994993, 144995007, 144995020-144995061, 144995067-144995086, 144995153-144995156, 144995175-144995180, 144995360, 144995461-144995465, 144995491-144995495, 144995500, 144995555-144995582, 144995598, 144995713-144995716, 144995777-144995804, 144995824-144995847, 144995874-144995880, 144995964, 144995971-144995976, 144995979-144995982, 144995996, 144996169-144996215, 144996223-144996229, 144996232-144996234, 144996240, 144996252-144996262, 144996268-144996271, 144996326-144996328, 144996346-144996347, 144996387, 144996515-144996523, 144996527-144996541, 144996691-144996709, 144996880-144996906, 144996959, 144996984-144996993, 144997003-144997007, 144997058-144997106, 144997227-144997261, 144997336, 144997393-144997442, 144997453-144997482, 144997488-144997539, 144997561, 144997564, 144997567, 144997604, 144997642-144997649, 144997683-144997686, 144997697-144997699, 144997737-144997786, 144997805-144997810, 144997815, 144997831, 144997841-144997846, 144997857, 144997868-144997927, 144997933-144997935, 144997951-144997956, 144997969, 144997972-144997975, 144997982-144998001, 144998024-144998066, 144998084-144998092, 144998101, 144998111-144998120, 144998144-144998160, 144998169-144998171, 144998174-144998176, 144998192, 144998198, 144998201-144998202, 144998217-144998221, 144998233-144998237, 144998240, 144998244, 144998265-144998310, 144998388-144998421, 144998436-144998501, 144998507-144998508, 144998527, 144998548-144998552, 144998559-144998598, 144998609-144998615, 144998626-144998630, 144998636, 144998639-144998645, 144998650, 144998681-144998687, 144998691, 144998711-144998714, 144998737-144998738, 144998741-144998743, 144998757, 144998761-144998768, 144998783-144998793, 144998804-144998996, 144999016, 144999036-144999061, 144999068-144999094, 144999109-144999142, 144999154-144999208, 144999226-144999444, 144999458-144999546, 144999554-144999587, 144999602, 144999641-144999721, 144999733-144999842, 144999858-144999869, 144999905-144999947, 144999968-144999969, 144999993, 144999997-145000004, 145000010, 145000018-145000020, 145000028-145000039, 145001623-145001626, 145001664-145001712, 145001721-145001759, 145001790, 145001801, 145002071, 145003273-145003277, 145003288-145003289, 145003292, 145003310-145003317, 145003327-145003336, 145003342-145003346, 145003349, 145003374-145003449, 145003582-145003587, 145003596-145003598, 145003629-145003659, 145003822-145003824, 145003835-145003840, 145003844-145003846, 145003850-145003860, 145003870-145003873, 145003877-145003879, 145003882-145003885, 145003897-145003901, 145003906, 145003924-145003972, 145004204, 145004207-145004212, 145004224-145004230, 145004367-145004369, 145004382-145004384, 145004634-145004640, 145006138-145006187, 145006356, 145006360, 145006365-145006369, 145006372, 145006391-145006392, 145006399, 145006402, 145006602, 145006803-145006818, 145007015-145007016, 145007019-145007023, 145007031-145007041, 145007047-145007048, 145007051, 145007124, 145008168-145008196, 145008241-145008247, 145008257, 145009081-145009090, 145024479-145024505, 145024541-145024548, 145024776-145024817, 145024874 |
| 1022 | GPT | 8 | 0.73507712944333 | 395 | 1491 | 145730677, 145730723-145730730, 145730745, 145730751, 145730753-145730754, 145730774-145730778, 145730793-145730797, 145730808-145730814, 145730817, 145730825, 145730871-145730872, 145731231-145731249, 145731263-145731275, 145731282-145731310, 145731378-145731387, 145731408, 145731443-145731471, 145731477-145731483, 145731496-145731514, 145731626, 145731654-145731692, 145731701-145731768, 145731884-145731945, 145731976-145732039 |
| 1023 | RECQL4 | 8 | 0.8974358974359 | 372 | 3627 | 145737364-145737373, 145738070-145738077, 145738330, 145738409, 145738632-145738663, 145738704, 145738724-145738727, 145738752-145738756, 145738762-145738768, 145738779-145738824, 145738847-145738852, 145738863, 145738955-145738965, 145738973-145739030, 145739094-145739096, 145739383-145739385, 145739457-145739460, 145739684, 145739894-145739909, 145740373-145740375, 145740607, 145741636, 145741955-145741956, 145742800-145742802, 145742809-145742823, 145742830-145742834, 145742887-145742892, 145742986-145743019, 145743085-145743168 |
| 1024 | DOCK8 | 9 | 0.98031746031746 | 124 | 6300 | 214977-215029, 382586, 407003-407006, 407018-407023, 407041-407042, 452023-452080 |
| 1025 | VLDLR | 9 | 0.9698703279939 | 79 | 2622 | 2622190-2622268 |
| 1026 | KCNV2 | 9 | 0.87301587301587 | 208 | 1638 | 2718003-2718030, 2718131-2718147, 2718166-2718184, 2718241, 2718280, 2718339, 2718355-2718358, 2718391-2718417, 2718423-2718424, 2718456, 2718465-2718466, 2718472-2718474, 2718563-2718571, 2718722-2718767, 2718780-2718794, 2718927-2718932, 2718944-2718968, 2718971 |
| 1027 | GLIS3 | 9 | 0.96276405298962 | 104 | 2793 | 4117822, 4117926, 4117931, 4117956-4117963, 4118022-4118078, 4118085-4118092, 4118109-4118111, 4118193-4118199, 4118202, 4118204, 4118206-4118213, 4118272, 4118348-4118350, 4118366, 4118378, 4118411, 4118434 |
| 1028 | SLC1A1 | 9 | 0.98857142857143 | 18 | 1575 | 4490719-4490722, 4490740-4490741, 4490744-4490747, 4490750-4490756, 4583074 |
| 1029 | JAK2 | 9 | 0.99352750809061 | 22 | 3399 | 5066691-5066697, 5077453, 5077498-5077501, 5077522, 5077524-5077532 |
| 1030 | GLDC | 9 | 0.96539340515834 | 106 | 3063 | 6595074, 6645354-6645412, 6645420, 6645423-6645425, 6645429-6645433, 6645436-6645471, 6645496 |
| 1031 | CDKN2A | 9 | 0.95966029723992 | 19 | 471 | 21971166, 21971170, 21974738, 21974761-21974765, 21974768-21974771, 21974778-21974780, 21974795, 21974812, 21974815-21974816 |
| 1032 | CDKN2A | 9 | 0.9463601532567 | 28 | 522 | 21971166, 21971170, 21994208-21994212, 21994216, 21994222-21994226, 21994229, 21994274, 21994330-21994332, 21994355, 21994364, 21994367-21994371, 21994383, 21994397-21994398 |
| 1033 | TOPORS | 9 | 0.99203314212874 | 25 | 3138 | 32550904-32550928 |
| 1034 | B4GALT1 | 9 | 0.94319131161236 | 68 | 1197 | 33166888, 33166891-33166909, 33166943-33166949, 33167094-33167124, 33167134-33167143 |
| 1035 | DNAI1 | 9 | 0.99666666666667 | 7 | 2100 | 34506744-34506750 |
| 1036 | GALT | 9 | 0.98859649122807 | 13 | 1140 | 34646742, 34646745, 34646751-34646761 |
| 1037 | VCP | 9 | 0.99876084262701 | 3 | 2421 | 35072335, 35072349-35072350 |
| 1038 | FANCG | 9 | 0.99732477260567 | 5 | 1869 | 35079206, 35079491-35079494 |
| 1039 | NPR2 | 9 | 0.99013994910941 | 31 | 3144 | 35792406-35792409, 35792471-35792480, 35792580-35792585, 35807130-35807140 |
| 1040 | GRHPR | 9 | 0.99898682877406 | 1 | 987 | 37424911 |
| 1041 | FXN | 9 | 0.89257503949447 | 68 | 633 | 71650709-71650717, 71650721-71650728, 71650752-71650753, 71650782-71650787, 71650801-71650832, 71650835, 71650841-71650846, 71650849, 71650852, 71650856, 71650860 |
| 1042 | TMC1 | 9 | 0.99737187910644 | 6 | 2283 | 75369773-75369777, 75450867 |
| 1043 | VPS13A | 9 | 0.98950131233596 | 100 | 9525 | 79820895-79820899, 79820902-79820903, 79820912-79820915, 79841382-79841387, 79841391, 79841395, 79841436-79841441, 79896801-79896842, 79897137, 79898499-79898500, 79922900-79922903, 79931121-79931123, 79931131-79931135, 79931204-79931208, 79932560-79932561, 79932589-79932591, 79932595, 79932601, 79932611, 79933164, 79933168, 79938077, 79996909, 79996934 |
| 1044 | AUH | 9 | 0.97843137254902 | 22 | 1020 | 94123986, 94123996, 94123999, 94124043-94124044, 94124047, 94124056, 94124118, 94124150-94124154, 94124163-94124171 |
| 1045 | ROR2 | 9 | 0.96151129943503 | 109 | 2832 | 94486329, 94487004, 94495404-94495406, 94495408-94495409, 94495413, 94495430-94495432, 94495498, 94495501-94495502, 94495580-94495608, 94495617-94495621, 94712171-94712181, 94712196-94712245 |
| 1046 | SPTLC1 | 9 | 0.9985935302391 | 2 | 1422 | 94877651-94877652 |
| 1047 | FBP1 | 9 | 0.97836774827925 | 22 | 1017 | 97401546-97401558, 97401561-97401566, 97401572-97401574 |
| 1048 | PTCH1 | 9 | 0.94935543278085 | 220 | 4344 | 98209516, 98211424, 98211438, 98211531, 98231262-98231264, 98231421-98231423, 98239936, 98268689-98268756, 98268760-98268761, 98268765, 98268769-98268775, 98268819-98268821, 98268861, 98270458-98270496, 98270510-98270513, 98270525, 98270527-98270530, 98270533, 98270536-98270542, 98270545, 98270551-98270554, 98270569, 98270573-98270576, 98270583-98270643 |
| 1049 | XPA | 9 | 0.99878345498783 | 1 | 822 | 100459454 |
| 1050 | FOXE1 | 9 | 0.12745098039216 | 979 | 1122 | 100616197-100617135, 100617142-100617156, 100617174, 100617177, 100617180-100617187, 100617194-100617206, 100617218-100617219 |
| 1051 | TGFBR1 | 9 | 0.93584656084656 | 97 | 1512 | 101867488-101867584 |
| 1052 | ALG2 | 9 | 0.99040767386091 | 12 | 1251 | 101983906-101983907, 101983914, 101983918, 101983927, 101983932, 101984072-101984077 |
| 1053 | INVS | 9 | 0.99593495934959 | 13 | 3198 | 102988452, 102988465, 103002505, 103015333-103015338, 103046818-103046821 |
| 1054 | FKTN | 9 | 0.9992784992785 | 1 | 1386 | 108370168 |
| 1055 | IKBKAP | 9 | 0.99974993748437 | 1 | 3999 | 111642349 |
| 1056 | DFNB31 | 9 | 0.89941262848752 | 274 | 2724 | 117240862-117240866, 117240870, 117240892, 117240937-117240942, 117240947-117240948, 117266681-117266702, 117266723-117266737, 117266779-117266782, 117266785-117266796, 117266803-117266810, 117266822-117266838, 117266841-117266851, 117266854, 117266861-117266889, 117266895-117266905, 117266917-117266923, 117266933-117267036, 117267042-117267050, 117267070, 117267074-117267081 |
| 1057 | TRIM32 | 9 | 0.99949031600408 | 1 | 1962 | 119460037 |
| 1058 | CDK5RAP2 | 9 | 0.99876803942274 | 7 | 5682 | 123170711, 123171420-123171425 |
| 1059 | GSN | 9 | 0.95657726692209 | 102 | 2349 | 124062160-124062250, 124062271-124062281 |
| 1060 | NR5A1 | 9 | 0.82539682539683 | 242 | 1386 | 127245158-127245174, 127253479, 127255322-127255328, 127255407-127255410, 127262731, 127262735, 127262744-127262748, 127262774-127262777, 127262847, 127262850, 127262856, 127265358, 127265364-127265368, 127265409-127265499, 127265573-127265674 |
| 1061 | LMX1B | 9 | 0.75335120643432 | 276 | 1119 | 129376827, 129376833-129376835, 129376838-129376842, 129376850, 129376852-129376861, 129377662-129377848, 129455535-129455565, 129455588-129455591, 129455594, 129455599-129455602, 129456047-129456048, 129456057-129456064, 129456073-129456082, 129458153-129458156, 129458168, 129458182, 129458211-129458212, 129458238 |
| 1062 | STXBP1 | 9 | 0.97406181015453 | 47 | 1812 | 130374683-130374719, 130416002, 130416012-130416019, 130416031 |
| 1063 | ENG | 9 | 0.98836621143146 | 23 | 1977 | 130588021, 130588025-130588026, 130588065-130588069, 130616583-130616586, 130616604-130616613, 130616626 |
| 1064 | GLE1 | 9 | 0.97854077253219 | 45 | 2097 | 131267131-131267173, 131286023, 131287656 |
| 1065 | DOLK | 9 | 0.99196042053185 | 13 | 1617 | 131708927-131708928, 131709027, 131709030-131709031, 131709372-131709378, 131709381 |
| 1066 | TOR1A | 9 | 0.92792792792793 | 72 | 999 | 132586187-132586231, 132586309-132586310, 132586322, 132586325-132586330, 132586339-132586351, 132586357-132586361 |
| 1067 | POMT1 | 9 | 0.99724517906336 | 6 | 2178 | 134394247-134394249, 134394288, 134394834, 134394844 |
| 1068 | SETX | 9 | 0.99775952203137 | 18 | 8034 | 135139628, 135139861-135139867, 135139873-135139877, 135139884, 135139891, 135176112-135176114 |
| 1069 | TTF1 | 9 | 0.99963208241354 | 1 | 2718 | 135263573 |
| 1070 | CEL | 9 | 0.77983267283135 | 500 | 2271 | 135944142, 135946012-135946018, 135946483-135946527, 135946546, 135946577, 135946593, 135946623-135947066 |
| 1071 | SURF1 | 9 | 0.90586932447398 | 85 | 903 | 136223124-136223132, 136223136-136223138, 136223142-136223148, 136223152, 136223162-136223172, 136223276-136223329 |
| 1072 | ADAMTS13 | 9 | 0.95564892623716 | 190 | 4284 | 136293754-136293891, 136295059-136295070, 136295076-136295079, 136295110-136295116, 136295186-136295187, 136298596, 136298599, 136301996, 136302001, 136302013, 136302016, 136302029-136302030, 136302049-136302052, 136308542-136308548, 136308552-136308553, 136308635-136308637, 136308651, 136321763, 136321772 |
| 1073 | DBH | 9 | 0.99352750809061 | 12 | 1854 | 136522255-136522256, 136522278, 136522284, 136522336, 136522342-136522344, 136522348-136522351 |
| 1074 | SARDH | 9 | 0.98186434530287 | 50 | 2757 | 136535742, 136555502-136555513, 136568110-136568111, 136597649-136597673, 136599197-136599205, 136599286 |
| 1075 | COL5A1 | 9 | 0.97299256842487 | 149 | 5517 | 137534034-137534142, 137623345, 137623350, 137630625, 137642389-137642395, 137655547-137655553, 137705872-137705878, 137706669, 137706672, 137716635-137716647, 137726925 |
| 1076 | LHX3 | 9 | 0.79487179487179 | 248 | 1209 | 139089186, 139089419-139089425, 139090514, 139090566-139090578, 139090594, 139090617-139090620, 139090754-139090905, 139091677, 139091681-139091683, 139091725-139091726, 139094798-139094810, 139094816-139094826, 139094830, 139094834, 139094849-139094885 |
| 1077 | INPP5E | 9 | 0.76330749354005 | 458 | 1935 | 139326304-139326308, 139326320-139326324, 139326335, 139326356, 139327012-139327013, 139328585, 139333069-139333076, 139333143-139333168, 139333171-139333183, 139333262-139333267, 139333305-139333370, 139333430-139333536, 139333544, 139333547-139333548, 139333579, 139333599-139333633, 139333655-139333660, 139333700-139333871 |
| 1078 | NOTCH1 | 9 | 0.92514345331247 | 574 | 7668 | 139390918-139390925, 139390928-139390929, 139390932-139390937, 139390945, 139390980, 139390984, 139391001, 139391051-139391053, 139391072, 139391083, 139391089, 139391096, 139391147-139391167, 139391190-139391196, 139391206-139391244, 139391280-139391328, 139391338-139391344, 139391402-139391420, 139391424-139391425, 139391434, 139391448-139391488, 139391524-139391550, 139391576, 139391633-139391639, 139391676, 139391740-139391744, 139391761, 139391769-139391773, 139391786-139391834, 139391879-139391883, 139391887-139391888, 139391957-139391994, 139392002-139392010, 139395097-139395098, 139395102, 139395186-139395188, 139395203, 139395207-139395208, 139395211-139395212, 139395216, 139395219, 139396288-139396290, 139396825-139396864, 139396881, 139396892, 139396897, 139396904-139396912, 139399194-139399204, 139399213-139399214, 139399219-139399228, 139399234-139399240, 139399249-139399250, 139400024, 139400168, 139400171, 139400183, 139400187, 139400194, 139400277-139400285, 139400290, 139400293, 139400296, 139401081-139401086, 139402715, 139403375, 139403515-139403516, 139407578-139407586, 139410091, 139410150, 139411817, 139412743-139412744, 139417341-139417343, 139417346, 139417586-139417589, 139440178-139440238 |
| 1079 | AGPAT2 | 9 | 0.7610513739546 | 200 | 837 | 139571539, 139571566-139571567, 139571926-139571957, 139581645-139581809 |
| 1080 | SLC34A3 | 9 | 0.78111111111111 | 394 | 1800 | 140127051, 140127236, 140127318-140127321, 140127682-140127685, 140127734, 140127737-140127738, 140127794-140127813, 140128086-140128092, 140128147-140128174, 140128315-140128393, 140128561-140128652, 140128660-140128693, 140128896-140128900, 140128922-140128924, 140128940-140128942, 140128945-140128954, 140128979-140128984, 140130610, 140130613, 140130675-140130713, 140130719-140130726, 140130740-140130771, 140130795, 140130847-140130857, 140130867 |
| 1081 | EHMT1 | 9 | 0.97895817295355 | 82 | 3897 | 140513481-140513501, 140605425-140605455, 140638534, 140708886, 140729297, 140729308-140729311, 140729321-140729328, 140729334-140729336, 140729340, 140729345-140729349, 140729360-140729362, 140729382-140729384 |
| 1082 | SHOX | X | 0.85324232081911 | 129 | 879 | 591765-591769, 595378, 595487, 595514-595520, 595524, 605126-605131, 605199, 605240-605304, 605310-605348, 605355, 605370-605371 |
| 1083 | KAL1 | X | 0.97454723445913 | 52 | 2043 | 8699934-8699938, 8699988-8699990, 8699997-8700022, 8700026, 8700032-8700039, 8700044, 8700047, 8700063-8700069 |
| 1084 | GPR143 | X | 0.98039215686275 | 25 | 1275 | 9733617-9733627, 9733638-9733642, 9733653, 9733666-9733670, 9733740-9733742 |
| 1085 | PHKA2 | X | 0.99973031283711 | 1 | 3708 | 18912463 |
| 1086 | SMS | X | 0.97456857402361 | 28 | 1101 | 21958943, 21958965-21958991 |
| 1087 | ARX | X | 0.71462403789224 | 482 | 1689 | 25022916, 25025303-25025307, 25025313, 25025352-25025358, 25025381, 25025384, 25025414-25025420, 25025517-25025523, 25031073-25031097, 25031109-25031110, 25031201-25031205, 25031275-25031289, 25031294-25031297, 25031373-25031404, 25031415-25031416, 25031468, 25031472-25031529, 25031536-25031839, 25033679-25033682 |
| 1088 | NR0B1 | X | 0.99363057324841 | 9 | 1413 | 30326619-30326621, 30326630-30326635 |
| 1089 | RPGR | X | 0.89679098005204 | 357 | 3459 | 38145324-38145680 |
| 1090 | BCOR | X | 0.99962034927866 | 2 | 5268 | 39934366-39934367 |
| 1091 | NYX | X | 0.62033195020747 | 549 | 1446 | 41332768-41332784, 41332833-41332879, 41332915-41333181, 41333216-41333316, 41333322-41333323, 41333356-41333360, 41333374-41333384, 41333398-41333399, 41333424-41333476, 41333498-41333506, 41333511-41333545 |
| 1092 | SYN1 | X | 0.80169971671388 | 420 | 2118 | 47433574, 47433585-47433858, 47433913-47433919, 47433957-47433989, 47434088-47434096, 47434109-47434166, 47478784-47478789, 47478812-47478833, 47479094-47479097, 47479108-47479112, 47479123 |
| 1093 | WAS | X | 0.95162359178264 | 73 | 1509 | 48546814-48546819, 48547197-48547240, 48547246-48547261, 48547709-48547715 |
| 1094 | SYP | X | 0.9755838641189 | 23 | 942 | 49056623-49056645 |
| 1095 | FGD1 | X | 0.99237699237699 | 22 | 2886 | 54497130-54497131, 54521747, 54521754-54521770, 54521781, 54521822 |
| 1096 | AR | X | 0.96742671009772 | 90 | 2763 | 66765126, 66765147-66765160, 66765163, 66765166, 66765175-66765182, 66765191-66765194, 66765201, 66765204-66765210, 66766193-66766202, 66766353, 66766365-66766387, 66766390-66766393, 66766400-66766409, 66766433-66766434, 66766461-66766463 |
| 1097 | EDA | X | 0.99744897959184 | 3 | 1176 | 68836210-68836212 |
| 1098 | MED12 | X | 0.99097030915213 | 59 | 6534 | 70338612-70338618, 70338629-70338631, 70338638, 70338641-70338658, 70338663-70338664, 70338667-70338676, 70338691-70338703, 70361110-70361114 |
| 1099 | TAF1 | X | 0.97166490672298 | 161 | 5682 | 70586165-70586267, 70586273-70586277, 70586292-70586344 |
| 1100 | SLC16A2 | X | 0.93865363735071 | 113 | 1842 | 73641335-73641340, 73641350-73641386, 73641396-73641443, 73641475, 73641534-73641539, 73641544, 73641549, 73641561-73641565, 73641569, 73641734, 73641737-73641742 |
| 1101 | BRWD3 | X | 0.9948234424108 | 28 | 5409 | 80064943-80064970 |
| 1102 | PCDH19 | X | 0.99425287356322 | 19 | 3306 | 99663091, 99663407-99663409, 99663425, 99663458-99663459, 99663571-99663582 |
| 1103 | OCRL | X | 0.990022172949 | 27 | 2706 | 128674426-128674430, 128674433-128674454 |
| 1104 | HPRT1 | X | 0.95890410958904 | 27 | 657 | 133594342-133594368 |
| 1105 | SLC9A6 | X | 0.98338081671415 | 35 | 2106 | 135067834-135067840, 135067846-135067852, 135067882, 135067944-135067947, 135067965, 135067972-135067986 |
| 1106 | ZIC3 | X | 0.91381766381766 | 121 | 1404 | 136648989, 136648995, 136649000-136649009, 136651071-136651074, 136651087-136651143, 136651155-136651200, 136651223-136651224 |
| 1107 | SOX3 | X | 0.48918717375093 | 685 | 1341 | 139585885-139586034, 139586044-139586524, 139586627-139586640, 139586651-139586652, 139586679-139586682, 139586685, 139586763-139586788, 139586856-139586860, 139586922, 139586925 |
| 1108 | FAM58A | X | 0.93877551020408 | 45 | 735 | 152864475-152864480, 152864483-152864521 |
| 1109 | SLC6A8 | X | 0.85167714884696 | 283 | 1908 | 152954030-152954291, 152959799-152959819 |
| 1110 | ABCD1 | X | 0.99687220732797 | 7 | 2238 | 153008981-153008987 |
| 1111 | AVPR2 | X | 0.99551971326165 | 5 | 1116 | 153172066-153172070 |
| 1112 | MECP2 | X | 0.95390781563126 | 69 | 1497 | 153296204-153296210, 153363061-153363122 |
| 1113 | OPN1LW | X | 0.95890410958904 | 45 | 1095 | 153409783-153409818, 153418460, 153418468, 153418521-153418527 |
| 1114 | OPN1MW | X | 0.93059360730594 | 76 | 1095 | 153448167-153448195, 153448218, 153448266, 153453436, 153453446, 153455650-153455692 |
| 1115 | OPN1MW | X | 0.9296803652968 | 77 | 1095 | 153485285-153485313, 153485336, 153485384, 153490554, 153490564, 153492768-153492810, 153496198 |
| 1116 | FLNA | X | 0.99420946626385 | 46 | 7944 | 153599339-153599348, 153599365-153599375, 153599379-153599383, 153599398-153599402, 153599557-153599571 |
| 1117 | EMD | X | 0.98954248366013 | 8 | 765 | 153607855-153607856, 153608055, 153608109-153608113 |
| 1118 | GDI1 | X | 0.99181547619048 | 11 | 1344 | 153665602, 153665615-153665621, 153665635-153665636, 153665640 |
| 1119 | G6PD | X | 0.99084249084249 | 15 | 1638 | 153760225-153760227, 153760230-153760232, 153760236-153760239, 153775035-153775039 |
| 1120 | IKBKG | X | 0.91256830601093 | 128 | 1464 | 153786758-153786762, 153786765-153786766, 153786770-153786773, 153786788-153786789, 153788622-153788653, 153788670-153788671, 153788675, 153788682-153788683, 153788707-153788744, 153791062-153791069, 153791074, 153791078-153791080, 153791102, 153792572-153792598 |
| 1121 | IKBKG | X | 0.92638036809816 | 36 | 489 | 153868329-153868340, 153869058-153869059, 153869070-153869076, 153869847-153869853, 153869858-153869865 |
| 1122 | USP9Y | Y | 0.99895670318206 | 8 | 7668 | 14870571, 14898631-14898633, 14898670-14898673 |
| Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
|---|---|---|---|---|---|---|
| 5 | CFH-H402Y | homozygous | 0.818 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 5 | CFH-Q950H | het unknown | 0.008 | Dominant pathogenic | High clinical importance, uncertain | Summary for this variant not displayed. It may contain a Unicode character preventing it from being properly processed. |
| 5 | BRCA1-Q356R | homozygous | 0.023 | Dominant pathogenic | Moderate clinical importance, likely | This variant was associated with an increased susceptibility to breast cancer. Johnson et al. found strongest significance for a dominant hypothesis. We estimate a woman carrying this variant to have an attributable increased lifetime risk of breast cancer of ~6% (~18% total, assuming 12% average lifetime risk). |
| 2.5 | CETP-A390P | het unknown | 0.015 | Unknown pathogenic | Low clinical importance, likely | This variant is associated with slightly lower HDL (good) cholesterol, although it has a negligible effect (around 2 mg/dl). |
| 2.5 | CETP-V422I | homozygous | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2.5 | CETP-R468Q | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 2.5 | SP110-L425S | homozygous | 0.875 | Unknown pathogenic | Low clinical importance, uncertain | This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect. |
| 2.5 | SP110-G299R | homozygous | 0.822 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | SP110-A206V | homozygous | 0.142 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | SP110-W112R | homozygous | 0.945 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | TP53-P72R | homozygous | 0.550 | Unknown pathogenic | Low clinical importance, uncertain | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. |
| 2.5 | COL4A1-P1647T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | COL4A1-Q1334H | homozygous | 0.292 | Dominant pathogenic | Low clinical importance, likely | This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%. |
| 2.5 | COL4A1-T555P | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | FLG-E2652D | homozygous | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.406 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 2.5 | FLG-H2268R | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | FLG-S761Shift | het unknown | 0.008 | Complex/Other pathogenic | Moderate clinical importance, uncertain | Based on other severe variants in the same gene, this variant is likely to cause ichthyosis vulgaris when homozygous or compound heterozygous with another severe variant. There is incomplete dominance, with heterozygotes generally having a very mild phenotype: some palmar hyperlinearity, keratosis pilaris and, in some cases fine scale. |
| 2 | NEFL-S472Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 2 | CHIT1-A442G | het unknown | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | CHIT1-V357V* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation, Testable gene in GeneTests |
| 2 | CHIT1-G102S | homozygous | 0.268 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.057 (benign), Testable gene in GeneTests |
| 2 | AKAP10-I646V | homozygous | 0.434 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 2 | AKAP10-R249H | homozygous | 0.427 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | ITGAM-R77H | het unknown | 0.095 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.048 (benign) |
| 2 | ITGAM-M441T | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | ITGAM-A859V | het unknown | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | ITGAM-P1147S | het unknown | 0.141 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | CYP2C9-R144C | het unknown | 0.027 | Unknown pharmacogenetic | Moderate clinical importance, well-established | This variant, also called CYP2C9*2, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is associated with Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant. |
| 1.5 | TPMT-Y240C | het unknown | 0.037 | Complex/Other pharmacogenetic | Low clinical importance, well-established | Alone, this variant is known as TPMT*3C -- but often, especially in Caucasians, it is found together with another nonsynonymous variant (A154T) to produce the TPMT*3A variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity, although *3C is milder than *3A. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug. |
| 1.5 | TPMT-A154T | het unknown | 0.031 | Recessive pharmacogenetic | Low clinical importance, likely | Usually this variant is found in combination Y240C, forming the TPMT*3A variant. When alone, this variant produces the *3B variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug. |
| 1.5 | LPL-S474* | het unknown | 0.096 | Unknown protective | Low clinical importance, uncertain | 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. |
| 1.25 | RNASEL-D541E | het unknown | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1.25 | RNASEL-R462Q | het unknown | 0.208 | Complex/Other pathogenic | Low clinical importance, uncertain | Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases. |
| 1 | CILP-G1166S | homozygous | 0.766 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CILP-Q979R | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CILP-K575E | homozygous | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CILP-I395T | het unknown | 0.491 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | TTN-R32018H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-R29962H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-I26820T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-I25199V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-T24045M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-I23649T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-R22371C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-A19840P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-V19783I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-T18827I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-P17286L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-R16903H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-N16125D | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-R9852H | het unknown | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-G9378R | het unknown | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-I9278V | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-S3419N | homozygous | 0.850 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-V3261M | homozygous | 0.840 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-S1295L | homozygous | 0.881 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-K1201E | homozygous | 0.519 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FRZB-R200W | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging) |
| 1 | SYNE1-L8741M | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-F7302V | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-L5015M | homozygous | 0.866 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-S4596T | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-K4121R | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-E4060D | het unknown | 0.539 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-C4021R | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-N1915Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview |
| 1 | APOH-W335S | homozygous | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
| 1 | APOH-R154H | homozygous | 0.074 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.043 (benign) |
| 1 | APOH-I141T | homozygous | 0.058 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SLCO1B1-N130D | het unknown | 0.663 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | SLCO1B1-V174A | het unknown | 0.097 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | KCP-C835S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KCP-K395E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KCP-H313Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | B3GNT6-L335Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CYP1B1-N453S | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | CYP1B1-V432L | homozygous | 0.547 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TSPAN16-S233Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | GCKR-L446P | homozygous | 0.673 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | CD226-S307G | homozygous | 0.423 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | HADHB-T2TT | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | HSH2D-S223Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | ZNF167-N494Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | KRT6C-V481I | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | FLT4-R1146H | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | ALG1L2-L157Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027336-P160L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_027336-V73F | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_027336-W23* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | CPN2-Q509R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | C14orf104-D768G | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | C14orf104-C469Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | C14orf104-E62D | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | 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 | NPRL3-L489Shift | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | ADH1B-H48R | homozygous | 0.678 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | TNXB-R48P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | ENO3-N71S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | ENO3-V85A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | VSIG10L-Q860Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | VSIG10L-R592Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | VSIG10L-M356I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | VSIG10L-N3T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | IL13-Q144R | homozygous | 0.766 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | AIM1-C491R | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.091 (benign) |
| 1 | AIM1-E1196A | homozygous | 0.935 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.015 (benign) |
| 1 | AIM1-L1235P | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.919 (probably damaging) |
| 1 | CUL7-Q813R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | SEBOX-L207S | het unknown | 0.913 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SEBOX-W10Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | HLA-DQA1-L8M | homozygous | 0.457 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-C34Y | homozygous | 0.547 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-F41S | homozygous | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-E63G | homozygous | 0.233 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-A68V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-RW70CL | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-EF73VL | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-SK75RQ | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-G78R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-G79Del | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-G84F | homozygous | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-R87T | homozygous | 0.170 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-M89I | homozygous | 0.200 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-A92L | homozygous | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-IM98SL | homozygous | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Y103S | homozygous | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-T130I | homozygous | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Q152H | homozygous | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | PIK3R6-L609Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ELAC2-S217L | het unknown | 0.209 | Complex/Other pathogenic | Low clinical importance, uncertain | 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 | SLC22A1-R61C | het unknown | 0.024 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging) |
| 1 | SLC22A1-L160F | het unknown | 0.892 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SLC22A1-M408V | het unknown | 0.715 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SSX7-D182E | homozygous | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 1 | HRNR-S799T | homozygous | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-R664Q | homozygous | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-G427D | homozygous | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-Q376R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-H273Q | homozygous | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-R85H | homozygous | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.078 (benign) |
| 1 | HRNR-M1Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SSX1-F101C | homozygous | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 1 | F5-D2222G | het unknown | 0.038 | Unknown benign | Low clinical importance, uncertain | Other mutations in this gene are associated with Factor 5 deficiency. There is no literature implicating this variant, however, and it is fairly common in the population (3.8% in HapMap), and so it is currently labeled as benign. |
| 1 | F5-M1764V | homozygous | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-K925E | het unknown | 0.196 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-H865R | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-K858R | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-N817T | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-Q534R | homozygous | 0.991 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-M413T | het unknown | 0.041 | Unknown benign | Low clinical importance, uncertain | Presumed benign. This variant is not particularly rare and has not been reported to cause disease. |
| 1 | DGKK-D1111N | homozygous | 0.145 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | DGKK-L1014Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | KRTAP7-1-Y17Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | ATG9B-A765Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ANXA11-R230C | homozygous | 0.382 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 1 | PTPN22-W620R | homozygous | 0.970 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | AMPD1-P48L | het unknown | 0.047 | Unknown benign | Low clinical importance, uncertain | Probably benign, ancestral to15173240 pathogenic Q12X mutation. |
| 1 | AMPD1-Q12* | het unknown | 0.041 | Recessive pathogenic | Low clinical importance, likely | Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly. |
| 1 | PLEKHA2-P389Shift | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | ZNF480-C3Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF480-P177S | homozygous | 0.161 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.486 (possibly damaging) |
| 1 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | ZNF761-L47Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF761-I122S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-V168I | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-G528S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-E603Q | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | C8orf49-G26R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | C8orf49-I81V | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | C8orf49-C194* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | H2BFM-Q73* | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.75 | NPC1-I858V | het unknown | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.75 | NPC1-M642I | het unknown | 0.863 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | NPC1-H215R | het unknown | 0.222 | Complex/Other protective | Low clinical importance, likely | This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). |
| 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-S182W | homozygous | 0.392 | 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 | HLA-DQB1-A172T | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-G157A | homozygous | 0.539 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-LL28PV | homozygous | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-S27T | homozygous | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-D12G | homozygous | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF204P-W209* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | ZNF204P-E93Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ZNF204P-K6Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | AK094914-K152N | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | AK094914-C16Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | AK094914-A13Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | DMXL1-S851N | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | DMXL1-M1589V | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
| 0.5 | TULP1-K261N | homozygous | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TULP1-I259T | homozygous | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALNT12-E119V | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.881 (probably damaging) |
| 0.5 | ALDH7A1-K439Q | het unknown | 0.072 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KIAA1949-G339R | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | PIGO-F1055L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | TNXB-V3186I | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-G2518E | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-R1255H | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-H1161R | het unknown | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-T302A | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ERAP2-K392N | homozygous | 0.540 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ERAP2-N501Shift | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | KIF27-N1036D | het unknown | 0.137 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | KIF27-R300Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | KIF27-I213V | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.014 (benign) |
| 0.5 | ROR2-V819I | homozygous | 0.798 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CCIN-R485W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | BAAT-V137I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.661 (possibly damaging), Testable gene in GeneTests |
| 0.5 | BAAT-R20Q | homozygous | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.136 (benign), Testable gene in GeneTests |
| 0.5 | AGRN-Q1135R | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPA1L-T493M | homozygous | 0.868 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.5 | F13A1-E652Q | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | F13A1-P565L | het unknown | 0.213 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | F13A1-Y205F | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NEDD9-P136Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | MRPL22-G154S | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (probably damaging) |
| 0.5 | WWC1-G491S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.922 (probably damaging) |
| 0.5 | CDK5RAP2-V1540L | homozygous | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDK5RAP2-E289Q | homozygous | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC26A2-I574T | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADRB2-G16R | het unknown | 0.477 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 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 | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | PCDHB16-V347L | het unknown | 0.199 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PCDHB16-T482I | het unknown | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | PCDHB16-A508T | het unknown | 0.149 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PCDHB16-E526A | het unknown | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PCDHB16-Q638H | het unknown | 0.207 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PCDHB16-A710V | het unknown | 0.242 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SPINK9-C32Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | MSX2-M129T | homozygous | 0.716 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HK3-Q600H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.016 (benign) |
| 0.5 | HK3-Q578R | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | PROP1-A142T | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | DFNB31-N796K | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-V783A | homozygous | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-H752Q | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-M613T | homozygous | 0.487 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-P562A | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-A440T | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-R364H | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCA1-K1587R | homozygous | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCA1-N1185S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCA1-R219K | het unknown | 0.498 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FBN2-V965I | homozygous | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KIF24-W218L | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | KIF24-M140V | het unknown | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.091 (benign) |
| 0.5 | CDC25C-G297R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
| 0.5 | FGFR4-V10I | het unknown | 0.221 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FGFR4-G388R | het unknown | 0.301 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.481 (possibly damaging) |
| 0.5 | SETX-I2587V | het unknown | 0.591 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-T1855A | het unknown | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-I1386V | het unknown | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-Q1276E | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-G1252R | het unknown | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-D1192E | het unknown | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RECQL4-S92P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | APOBEC2-T120N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | NCF1-R90H | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NCF1-G99S | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KIAA1324L-T864M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) | |
| 0.5 | NAT2-I114T | het unknown | 0.220 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | NAT2-R197Q | het unknown | 0.272 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | NAT2-R268K | het unknown | 0.675 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | UPP1-T228M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.924 (probably damaging) |
| 0.5 | CCM2-V53I | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FRMD1-Q456E | homozygous | 0.890 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FRMD1-H383Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.742 (possibly damaging) |
| 0.5 | FRMD1-G150R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.907 (probably damaging) |
| 0.5 | DNAH11-E34L | homozygous | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-V1023A | homozygous | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T1038A | homozygous | 0.747 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-Y2593H | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-N2641S | het unknown | 0.367 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-A3474T | het unknown | 0.501 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-M4172V | homozygous | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T4177I | homozygous | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GARS-P42A | homozygous | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TXNDC3-C208R | homozygous | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TXNDC3-I493T | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | AKAP9-M463I | het unknown | 0.376 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AKAP9-K1335KQ | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | AKAP9-N2792S | het unknown | 0.271 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AKAP9-P2979S | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MTUS1-S267P | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | MTUS1-C148R | homozygous | 0.659 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | FBXL13-C231S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | FBXL13-I74M | homozygous | 0.907 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTPRZ1-V1024L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.881 (probably damaging) |
| 0.5 | PTPRZ1-K1080Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.028 (benign) |
| 0.5 | PTPRZ1-D1431Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | PTPRZ1-G1433D | homozygous | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AASS-S771L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests |
| 0.5 | CLCN1-G118W | homozygous | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLCN1-P727L | homozygous | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRWD1-Q607H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | CYP3A43-M275I | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | PDK4-M134V | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CYP3A7-R409T | homozygous | 0.669 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MCPH1-R171S | homozygous | 0.865 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D314H | homozygous | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D392G | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-A761V | homozygous | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LMBR1-L203S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.972 (probably damaging) |
| 0.5 | SLC22A2-S270A | homozygous | 0.876 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PCSK1-S690T | het unknown | 0.218 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
| 0.5 | PCSK1-Q665E | het unknown | 0.238 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-Q515E | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-S734A | het unknown | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-M1028V | het unknown | 0.696 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | TG-D1312G | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-D1838N | het unknown | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
| 0.5 | TG-R1999W | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-W2501R | het unknown | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.031 (benign), Testable gene in GeneTests |
| 0.5 | TG-R2530Q | het unknown | 0.586 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | PKHD1-V3960I | het unknown | 0.023 | Unknown benign | Low clinical importance, likely | Probably benign, reported as a nonpathogenic polymorphism found in controls. |
| 0.5 | PKHD1-I3905N | het unknown | 0.030 | Unknown benign | Low clinical importance, likely | Presumed benign, allele frequency contradicts severe pathogenic effect. |
| 0.5 | PKHD1-L1870V | homozygous | 0.905 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-A1262V | homozygous | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-R760C | homozygous | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | EYS-R2326Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | EYS-L852P | homozygous | 0.655 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-E641V | het unknown | 0.112 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-G631S | het unknown | 0.596 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-Q571R | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PLEC-R4129C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP39A1-R389C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CYP39A1-N324K | het unknown | 0.410 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP39A1-R103H | het unknown | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | CER1-V179L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) | |
| 0.5 | CER1-A65G | het unknown | 0.370 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PEX6-A809V | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DOCK8-D63N | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests |
| 0.5 | DOCK8-P97T | het unknown | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests |
| 0.5 | ENPP5-I171V | het unknown | 0.384 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.139 (benign) |
| 0.5 | ENPP5-R39P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ENPP5-L6I | het unknown | 0.384 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | LMBRD1-D469E | homozygous | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TMEM67-I604V | homozygous | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ENPP1-K173Q | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.15 (benign), Testable gene in GeneTests |
| 0.5 | ENPP1-R886T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | BCLAF1-T425I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | BCLAF1-S209C | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | BCLAF1-G66A | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HIVEP2-L1538P | homozygous | 0.972 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HIVEP2-Y1242C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | PEX2-C184R | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ROS1-S2229C | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ROS1-K2228Q | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ROS1-D2213N | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | ROS1-S653F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.975 (probably damaging) |
| 0.5 | RSPH4A-T149S | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RSPH4A-L589P | het unknown | 0.707 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CNGB3-T298P | homozygous | 0.681 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CNGB3-C234W | homozygous | 0.939 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ARMC2-T546M | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | COL10A1-G434Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests |
| 0.5 | COL10A1-M27T | het unknown | 0.449 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DSE-T25I | homozygous | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.012 (benign) |
| 0.5 | DSE-P34L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.953 (probably damaging) |
| 0.5 | EVC-Y258H | homozygous | 0.721 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 0.5 | EVC-T449K | het unknown | 0.871 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EVC-R576Q | het unknown | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.5 | GPR98-L1093F | het unknown | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-T1927M | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V1951I | het unknown | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N2584S | het unknown | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E3471K | het unknown | 0.834 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E5344G | het unknown | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V5427M | homozygous | 0.918 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HHIPL2-V598L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.855 (probably damaging) |
| 0.5 | SIPA1L2-R1708Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.976 (probably damaging) |
| 0.5 | SIPA1L2-M1424L | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.291 (possibly damaging) |
| 0.5 | SIPA1L2-T1322A | het unknown | 0.388 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EXO1-N279S | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | EXO1-H354R | homozygous | 0.664 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.119 (benign) |
| 0.5 | EXO1-E670G | homozygous | 0.696 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.025 (benign) |
| 0.5 | EXO1-R723C | homozygous | 0.915 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.512 (possibly damaging) |
| 0.5 | KIF26B-S1294L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.902 (probably damaging) |
| 0.5 | GPATCH2-M474V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | USH2A-T4918M | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.715 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-E3411A | homozygous | 0.638 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-I2169T | het unknown | 0.575 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-I2106T | homozygous | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-I1665T | het unknown | 0.052 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-R1486K | het unknown | 0.646 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-V230M | het unknown | 0.008 | Recessive benign | Low clinical importance, uncertain | This rare variant may be associated with Usher Syndrome II, but the literature seems to have concluded that it is a non-pathogenic polymorphism (including authors who earlier reported it as pathogenic). |
| 0.5 | USH2A-A125T | het unknown | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CACNA1S-R1539C | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CACNA1S-L458H | het unknown | Unknown benign | Low clinical importance, likely | Common polymorphism | |
| 0.5 | NAV1-D487N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | NAV1-S1270L | homozygous | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | RNPEP-K260N | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.978 (probably damaging) |
| 0.5 | RNPEP-V579I | het unknown | 0.313 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | RPS6KC1-P319L | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | FAM71A-K555* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | FAM71A-T577M | homozygous | 0.456 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | APOB-S4338N | het unknown | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-P2739L | het unknown | 0.346 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-I2313V | het unknown | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-Y1422C | homozygous | 0.994 | Unknown benign | Low clinical importance, uncertain | This position is almost certainly an error in the HG18 reference sequence. |
| 0.5 | APOB-A618V | het unknown | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-T98I | het unknown | 0.149 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ASXL2-S185G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | TET3-P294S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.957 (probably damaging) |
| 0.5 | MOGS-V673I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.024 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH6-H55Y | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) | |
| 0.5 | DNAH6-V141M | homozygous | 0.942 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NEB-I6534V | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-A6277P | het unknown | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-R4389T | het unknown | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-W3348C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | NEB-K2613N | homozygous | 0.138 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-V1491M | homozygous | 0.453 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-Y1301H | homozygous | 0.668 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K1027N | homozygous | 0.476 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GLI2-A1156S | homozygous | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-S524SP | het unknown | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-H623R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-V671G | het unknown | 0.857 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-S2574N | het unknown | 0.144 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-D2672H | het unknown | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-R4029K | het unknown | 0.527 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF638-C1198R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.879 (probably damaging) |
| 0.5 | OTOF-D304Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | OTOF-F303L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | OTOF-R82C | het unknown | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-D1529E | het unknown | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-I1461V | homozygous | 0.982 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-T680I | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.354 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | OXER1-L407V | het unknown | 0.324 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.36 (possibly damaging) |
| 0.5 | OXER1-M40I | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.931 (probably damaging) |
| 0.5 | TTC7A-R188H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | SRBD1-P822A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SRBD1-V798F | het unknown | 0.226 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.054 (benign) |
| 0.5 | ASPM-L2647I | het unknown | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-S2562G | het unknown | 0.212 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-Y2494H | homozygous | 0.992 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PAPPA2-P1657R | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.977 (probably damaging) |
| 0.5 | ALDH4A1-T528N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.818 (possibly damaging), Testable gene in GeneTests |
| 0.5 | RNF186-P208T | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.852 (probably damaging) |
| 0.5 | RNF186-R179* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | PLA2G2D-R121C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | PLA2G2D-S80G | homozygous | 0.773 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ALPL-R152H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TMEM82-L308Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | TMEM82-L309Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | VPS13D-EP1858AS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | VPS13D-R2432C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.957 (probably damaging) |
| 0.5 | ARHGEF16-H370Y | homozygous | 0.663 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.744 (possibly damaging) |
| 0.5 | ARHGEF16-N380D | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | RNF207-N573S | het unknown | 0.474 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RNF207-G603A | het unknown | 0.165 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign) |
| 0.5 | H6PD-D151A | homozygous | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.292 (possibly damaging) |
| 0.5 | H6PD-R453Q | het unknown | 0.407 | Recessive pathogenic | Low clinical importance, uncertain | This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease). |
| 0.5 | H6PD-P554L | het unknown | 0.077 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.966 (probably damaging) |
| 0.5 | TNFRSF1B-M196R | het unknown | 0.206 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | MTHFR-E429A | het unknown | 0.243 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.099 (benign), Testable gene in GeneTests |
| 0.5 | FUCA1-P10R | het unknown | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.894 (probably damaging), Testable gene in GeneTests |
| 0.5 | FUCA1-R2W | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests |
| 0.5 | GRHL3-T454M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
| 0.5 | DPYD-R29C | homozygous | 0.731 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DBT-N473S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DBT-S384G | homozygous | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SEC22B-T81K | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SEC22B-R107Q | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SEC22B-C129R | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SEC22B-R131* | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | SEC22B-H189R | het unknown | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KCNJ10-R271C | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests |
| 0.5 | TDRKH-G257A | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.937 (probably damaging) |
| 0.5 | IFI44L-M40T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
| 0.5 | IFI44L-H73R | homozygous | 0.455 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | IFI44L-V217I | het unknown | 0.170 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.877 (probably damaging) |
| 0.5 | IFI44L-I235T | het unknown | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LRRIQ3-A558V | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.5 | LRRIQ3-E434K | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | LRRIQ3-M129I | het unknown | 0.059 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.819 (possibly damaging) |
| 0.5 | FAM46B-H416R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) | |
| 0.5 | FAM46B-T20K | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.105 (benign) | |
| 0.5 | ZC3H12A-P32L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.946 (probably damaging) |
| 0.5 | ZC3H12A-R33S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.228 (possibly damaging) |
| 0.5 | MUTYH-V8M | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | INADL-E362A | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | INADL-I870M | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | INADL-G1178S | homozygous | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | INADL-R1282H | het unknown | 0.497 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.5 | INADL-V1360L | het unknown | 0.563 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | INADL-A1616G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.02 (benign) |
| 0.5 | LRP8-R952Q | het unknown | 0.130 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SCN1A-A1056T | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL3A1-H1353Q | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TMEM141-R54S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | EPHA5-N81T | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.978 (probably damaging) |
| 0.5 | UGT2A1-E380K | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | UGT2A1-R75K | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HADH-L86P | homozygous | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HTT-Y2309H | het unknown | 0.459 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HTT-V2786I | het unknown | 0.193 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KIAA0226-N853S | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.5 | KIAA0226-R89Q | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | UMPS-G213A | het unknown | 0.170 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC12A8-I281V | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | SLC12A8-P266L | homozygous | 0.951 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC12A8-R181C | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PLSCR1-H262Y | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | ALG3-I107V | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLCH1-P1415S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.931 (probably damaging) | |
| 0.5 | CFI-T300A | homozygous | 0.957 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRSS12-R833Q | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (probably damaging) |
| 0.5 | IL7R-I66T | het unknown | 0.597 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IL7R-V138I | het unknown | 0.689 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IL7R-I356V | het unknown | 0.214 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | C6-T702M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | C6-A119E | homozygous | 0.564 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ERCC8-K286T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.47 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | AP3B1-V585E | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FAM169A-E511K | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | DNAH5-I4450V | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-T3791I | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-Q2463R | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-I766L | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-T558A | het unknown | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-H12Q | homozygous | 0.896 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MTRR-S284T | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MTRR-K377R | het unknown | 0.260 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MTRR-R442C | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MTRR-P477R | het unknown | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RNF150-G88R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.853 (probably damaging) |
| 0.5 | ANXA10-R47C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | GALNTL6-A318S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | TERT-A279T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview | |
| 0.5 | FAT1-K4059N | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-Q2933P | het unknown | 0.695 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-H1273R | het unknown | 0.697 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-Y1250C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | FAT1-R1064G | het unknown | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-V862L | het unknown | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-F614L | het unknown | 0.685 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-A131V | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.052 (benign) |
| 0.5 | HGD-Q80H | homozygous | 0.742 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DRD3-G9S | homozygous | 0.482 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | COL4A3-L141P | homozygous | 0.760 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-E162G | homozygous | 0.764 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-P574L | homozygous | 0.358 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-T3069I | het unknown | 0.364 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-A3012P | homozygous | 0.843 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-M2927T | het unknown | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-D2831H | het unknown | 0.047 | Unknown benign | Low clinical importance, likely | Probably benign, reported by Pan et al. as a presumed-nonpathogenic variant in the gene. |
| 0.5 | ILKAP-P34L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | ANO7-D70N | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | ANO7-E226K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.137 (benign) |
| 0.5 | AGXT-I340M | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-S1400P | homozygous | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-V1327M | homozygous | 0.464 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-P1004L | homozygous | 0.528 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-P482S | homozygous | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-Q1578R | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-E1365D | homozygous | 0.723 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-R723K | homozygous | 0.770 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL5A2-M361L | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ICOS-V151L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CPS1-T344A | homozygous | 0.583 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CPS1-T1406N | homozygous | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CXCR2-R248Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ABCA12-S777T | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEK10-L513S | het unknown | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NEK10-R365Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.952 (probably damaging) |
| 0.5 | SCN5A-H558R | het unknown | 0.215 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GBE1-I334V | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR_015394-F74S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_015394-T113Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | WDR52-P745L | het unknown | 0.091 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | WDR52-K284N | het unknown | 0.105 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | WDR52-R218Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | WDR52-K53E | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIAA2018-V2200A | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIAA2018-S1818G | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | KIAA2018-P222A | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.012 (benign) |
| 0.5 | SIDT1-V78M | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | LMOD3-R83H | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | KBTBD8-F179L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) | |
| 0.5 | KBTBD8-C420R | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | NCKIPSD-P551S | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | AMT-S68L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.13 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | IQCF3-R106W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.979 (probably damaging) |
| 0.5 | LRIG1-E96K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | ABHD14A-R32Q | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | ABHD14A-R227G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.977 (probably damaging) |
| 0.5 | ZNF484-F253L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.926 (probably damaging) |
| 0.5 | MTHFD1-K134R | homozygous | 0.846 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MTHFD1-R653Q | het unknown | 0.320 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign) |
| 0.5 | HYDIN-E4159Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HYDIN-T4004A | het unknown | 0.432 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-Q3904Shift | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | HYDIN-M3868R | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-V3839L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-V3741I | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-A3738T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-L3315P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-A3290P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-I2693S | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-K2588R | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-D2569N | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-G2557E | het unknown | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-TEKER2520Del | het unknown | 0.644 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-L2501S | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-P2454Q | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-N2444I | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-R2297G | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | HYDIN-Q2241R | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-V2098M | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-R2086C | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | HYDIN-R1951Q | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.269 (possibly damaging) |
| 0.5 | HYDIN-I1533V | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-P1491H | het unknown | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | HYDIN-V1228L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HYDIN-I1077V | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.082 (benign) |
| 0.5 | HYDIN-N724D | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | HYDIN-T690A | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | HYDIN-T584N | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | CYBA-Y72H | het unknown | 0.649 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SNAI3-V7M | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | ZNF276-W263R | het unknown | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.776 (possibly damaging) |
| 0.5 | ZNF276-R351W | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | FUK-F228Y | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | RLTPR-R889W | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | BRD7-S473C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | SALL1-V1275I | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR56-S281R | het unknown | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR56-R559W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CES3-R367W | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.965 (probably damaging) |
| 0.5 | CCDC135-D51N | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.927 (probably damaging) |
| 0.5 | CCDC135-V241E | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | TSR1-K209N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.987 (probably damaging) |
| 0.5 | CTNS-T260I | homozygous | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPATCH8-C1161W | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ADAM11-L93S | het unknown | 0.615 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ADAM11-R141* | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | ADAM11-A226T | het unknown | 0.610 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ADAM11-P255S | het unknown | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BC033456-Q139* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | BC033456-K101E | homozygous | 0.969 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CCDC47-A40T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.937 (probably damaging) |
| 0.5 | BZRAP1-G1830E | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.204 (possibly damaging) |
| 0.5 | BZRAP1-H1728R | het unknown | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | BZRAP1-D1301N | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | BZRAP1-A1140P | homozygous | 0.266 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BZRAP1-Q817R | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BZRAP1-A586T | het unknown | 0.068 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BZRAP1-Q514R | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BZRAP1-G79E | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.419 (possibly damaging) |
| 0.5 | JUP-M697L | homozygous | 0.520 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PIGW-H235Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | CHRNE-G18V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WSCD1-T301I | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | MYH13-R1822W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | MYH13-M1071V | homozygous | 0.545 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.025 (benign) |
| 0.5 | TP53I13-P50A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | MAP2K3-P40T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | MAP2K3-R55T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MAP2K3-S68P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.029 (benign) |
| 0.5 | MAP2K3-A84T | het unknown | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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-T222M | het unknown | 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 | ZNF764-A332V | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.831 (possibly damaging) |
| 0.5 | ZNF764-R52Q | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | DIP2C-M108I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.838 (possibly damaging), Nonsense mutation |
| 0.5 | DIP2C-M108I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.838 (possibly damaging), Nonsense mutation |
| 0.5 | MGA-T716S | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MGA-C1270R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | MGA-P1523A | het unknown | 0.260 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 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 | GATM-Q225R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.022 (benign), Testable gene in GeneTests with associated GeneReview |
| 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 | HERC2-H4640R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | AHNAK2-S2520P | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.5 | AHNAK2-E2503A | het unknown | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.778 (possibly damaging) |
| 0.5 | AHNAK2-V2471L | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.813 (possibly damaging) |
| 0.5 | AHNAK2-L2146V | homozygous | 0.696 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.007 (benign) |
| 0.5 | AHNAK2-P2082A | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.889 (probably damaging) |
| 0.5 | AHNAK2-E1856D | het unknown | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AHNAK2-M1298I | het unknown | 0.830 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.016 (benign) |
| 0.5 | TTC9-C214F | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | MLH3-P844L | homozygous | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MLH3-N826D | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-T641A | homozygous | 0.892 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-I562T | het unknown | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CATSPERB-P866R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | EML5-D1285N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.854 (probably damaging) |
| 0.5 | EML5-I269V | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.07 (benign) |
| 0.5 | CEP152-L914V | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCG3-K154E | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.795 (possibly damaging), Testable gene in GeneTests |
| 0.5 | IFT140-R773W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | GFER-F166L | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GLIS2-A75S | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ACSM2A-R115* | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | ACSM2A-N463D | homozygous | 0.930 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABCC6-M848V | homozygous | 0.954 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IQGAP1-N903K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | FANCI-A86V | het unknown | 0.219 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCI-C742S | het unknown | 0.234 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCI-I877L | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | APH1B-T27I | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.5 | HEXA-I436V | homozygous | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HEXA-A255P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC28A1-V189I | homozygous | 0.313 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SLC28A1-Q237K | homozygous | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BBS4-I354T | homozygous | 0.399 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN4A-S524G | homozygous | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SOX9-QY439HH | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KCNE1-S38G | homozygous | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLCS-V641M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.305 (possibly damaging), Testable gene in GeneTests |
| 0.5 | COL18A1-G173S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | SDF2L1-R161H | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | KRTAP27-1-A99V | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.108 (benign) |
| 0.5 | KRTAP27-1-C95Y | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | KRTAP26-1-P188T | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | KRTAP26-1-S26Y | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | FAM65C-E415D | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.937 (probably damaging) |
| 0.5 | SALL4-L507R | homozygous | 0.328 | Dominant not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF217-D889G | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.972 (probably damaging) |
| 0.5 | ZNF217-V739I | het unknown | 0.170 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SRMS-V457L | het unknown | 0.221 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SRMS-A453T | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.06 (benign) |
| 0.5 | SRMS-V255M | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | SRMS-P218L | het unknown | 0.161 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | CYP24A1-R396W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | VPREB3-R60W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CRYBB3-H113D | homozygous | 0.685 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CRYBB3-E183* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | DMD-R2937Q | homozygous | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-K2366Q | homozygous | 0.152 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | UBA1-R447H | homozygous | 0.199 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7A-E1350K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | F8-D1260E | homozygous | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | XIAP-Q423P | homozygous | 0.277 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | KAL1-V534I | homozygous | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HDAC10-R496W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.887 (probably damaging) |
| 0.5 | MYO18B-I3M | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.031 (benign) |
| 0.5 | MYO18B-G44E | het unknown | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MYO18B-W547C | homozygous | 0.929 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MYO18B-W661R | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MYO18B-W1037S | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | MYO18B-H1119Q | homozygous | 0.632 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HPS4-Q620H | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-H601Y | homozygous | 0.807 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-L438V | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-E224G | homozygous | 0.779 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GGA1-R524C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PPARA-L162V | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.013 (benign) |
| 0.5 | CYB5R3-D49H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.341 (possibly damaging), Testable gene in GeneTests |
| 0.5 | CRLS1-P193L | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | ZSCAN4-E387K | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | ATP8B1-A1152T | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CTDP1-T340M | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCA7-T319A | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABCA7-H395R | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.5 | ABCA7-R463H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.975 (probably damaging) |
| 0.5 | ABCA7-V1311G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ABCA7-G1527A | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABCA7-Q1686R | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.486 (possibly damaging) |
| 0.5 | PEX11G-L216F | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | DUS3L-R185G | homozygous | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DUS3L-C54Y | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.886 (probably damaging) |
| 0.5 | LAMA3-N2815K | het unknown | 0.130 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMA3-S2834G | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMA1-K2002E | homozygous | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LAMA1-A1876T | homozygous | 0.138 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LAMA1-I1659V | het unknown | 0.159 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LAMA1-M1340V | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.942 (probably damaging) |
| 0.5 | LAMA1-R225H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | DNAI2-A558T | homozygous | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN54-I137L | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.846 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN54-P483A | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALR2-P370Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CARD14-R547S | het unknown | 0.418 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CARD14-R682W | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CARD14-R820W | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.854 (probably damaging) |
| 0.5 | GAA-H199R | homozygous | 0.574 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GAA-R223H | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GAA-V780I | homozygous | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADAMTS10-T134S | homozygous | 0.910 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TYK2-V362F | homozygous | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | PLEKHA4-I37V | het unknown | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PLEKHA4-S20Y | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.971 (probably damaging) |
| 0.5 | DHDH-S66N | het unknown | 0.545 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DHDH-A173Shift | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | DHDH-V247A | het unknown | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DHDH-E294Shift | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | LILRB3-R465L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | LILRB3-N252D | homozygous | 0.963 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LILRB3-E90Q | het unknown | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LILRB3-M88I | het unknown | 0.465 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.164 (benign) |
| 0.5 | LILRB3-H61D | homozygous | 0.905 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LILRB3-Q53L | homozygous | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF530-H110Q | het unknown | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF530-H509Y | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | PTPRH-K823E | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTPRH-L226P | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | ERCC2-K751Q | het unknown | 0.218 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ERCC2-D312N | het unknown | 0.145 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF224-M118V | homozygous | 0.793 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF224-H162L | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging) |
| 0.5 | ZNF224-K640E | homozygous | 0.593 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CCDC151-F58S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.952 (probably damaging) |
| 0.5 | SYCE2-H89Y | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | NOTCH3-A2223V | homozygous | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-G1132R | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-P1083R | het unknown | 0.082 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-I921M | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NPHS1-F873Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests |
| 0.5 | NPHS1-E117K | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 0.5 | SH2B1-T484A | het unknown | 0.217 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | BBS10-P539L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.19 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF511-F155L | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | BIN2-N529D | homozygous | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BIN2-M125V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | BIN2-A70G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | MYOF-R1783Q | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | LARP4-F351L | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | PPHLN1-P141S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | VDR-M1T | het unknown | 0.687 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.5 | KRT75-S485R | homozygous | 0.669 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KRT75-E240K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | KRT75-R91G | homozygous | 0.651 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | STAMBPL1-E204K | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | XRCC6BP1-A229V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | MYST4-Q520P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.872 (probably damaging) |
| 0.5 | COL17A1-D1370G | homozygous | 0.257 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-M703V | homozygous | 0.672 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-G428S | homozygous | 0.771 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-T210M | homozygous | 0.557 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | INSC-D329N | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | KRT6B-G499S | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KRT6B-I365V | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 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 | SYNE2-M1969T | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2284V | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-S2359N | homozygous | 0.676 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2395T | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-S2802G | homozygous | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-I2942V | homozygous | 0.622 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-D3253H | homozygous | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-H3309R | homozygous | 0.647 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-L5186M | het unknown | 0.708 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ARMS2-R38* | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation, Testable gene in GeneTests |
| 0.5 | ARMS2-A69S | het unknown | 0.294 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LRRK2-R50H | homozygous | 0.927 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-M2397T | het unknown | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | B4GALNT3-R265Q | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.096 (benign) |
| 0.5 | B4GALNT3-K411R | het unknown | 0.264 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.236 (possibly damaging) |
| 0.5 | B4GALNT3-R992H | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | BAG3-C151R | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HABP2-T50M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | HYLS1-C31R | homozygous | 0.322 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests |
| 0.5 | ST14-R85H | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | ST14-R381S | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.657 (possibly damaging) |
| 0.5 | SNX19-L878R | homozygous | 0.808 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SNX19-N753S | homozygous | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-L618F | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-V361L | homozygous | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | WNK1-T1056P | het unknown | 0.838 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-C1506S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-P1823L | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATM-D126E | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATM-N1983S | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATM-V2079I | het unknown | 0.008 | Unknown benign | Low clinical importance, uncertain | Probably benign. |
| 0.5 | PDE6C-S270T | homozygous | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CAPRIN2-P610R | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | CAPRIN2-M519V | het unknown | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | CAPRIN2-P114S | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | AMOTL1-R363Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | CLECL1-S52Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | RAD52-S346* | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | VWF-G2705R | het unknown | 0.047 | Unknown benign | Low clinical importance, uncertain | Probably benign, seems to be considered an uncommon polymorphism. |
| 0.5 | VWF-Q852R | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-T789A | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-H484R | het unknown | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-V471I | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC2-Y39F | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCC2-V417I | het unknown | 0.195 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | ABCC2-L849R | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LRP1-R2613Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.95 (probably damaging) |
| 0.5 | LRP1-Q2900P | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CHAT-V461M | homozygous | 0.927 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLN5-R2C | het unknown | 0.158 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLN5-N242K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HSD17B12-P195R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PCNXL3-R584W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CD248-Q529E | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.903 (probably damaging) |
| 0.5 | CD248-H457R | het unknown | 0.269 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CCDC87-L738R | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | TBC1D4-T1147M | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.06 (benign) |
| 0.5 | TBC1D4-V819I | homozygous | 0.687 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TBC1D4-E423K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | USH1C-E819D | homozygous | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MEN1-T546A | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRDX5-Y33C | homozygous | 0.870 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRDX5-N194I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | NEBL-D378H | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | NEBL-M351V | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | FANCM-S175F | het unknown | 0.242 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCM-V878L | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCM-I1460V | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCM-P1812A | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PEX16-V254L | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PEX16-V116I | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MS4A14-I56Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | MS4A14-N177Y | het unknown | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | MS4A14-G584R | het unknown | 0.513 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | SVIL-P1648L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.918 (probably damaging) |
| 0.5 | SVIL-P1235A | homozygous | 0.675 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | SVIL-V422I | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTF1A-S263P | homozygous | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests |
| 0.5 | RPGRIP1-K192E | homozygous | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1-A547S | het unknown | 0.164 | Complex/Other benign | Low clinical importance, uncertain | Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal. |
| 0.5 | RPGRIP1-E1033Q | het unknown | 0.256 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-F124S | homozygous | 0.803 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-A162G | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-S494N | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-N1349D | het unknown | 0.772 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-A1572T | het unknown | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-V1672I | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-T1996S | homozygous | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DDX55-S350R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | MYOZ1-Y218D | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) |
| 0.5 | CCDC63-Y303F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | PCDH15-R934Q | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCDH15-S19A | homozygous | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | UTP14C-G85V | homozygous | 0.559 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UTP14C-T101A | het unknown | 0.077 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | UTP14C-R319H | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ATP7B-V1140A | homozygous | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7B-R952K | homozygous | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7B-K832R | homozygous | 0.455 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7B-V456L | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7B-S406A | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FNDC3A-A478T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.536 (possibly damaging) |
| 0.5 | FNDC3A-T1017A | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | SH2B3-W262R | het unknown | 0.768 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | B3GALTL-E370K | homozygous | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.375 | HPS1-Q604R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | HPS1-P491R | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.983 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | EDARADD-M9I | het unknown | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SIX5-V693M | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SIX5-P635S | het unknown | 0.533 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | C1orf99-T7S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C1orf99-P38Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | HMCN1-I2418T | het unknown | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests |
| 0.25 | HMCN1-E2893G | het unknown | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests |
| 0.25 | HPS5-L417M | het unknown | 0.150 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | DLL3-L218P | het unknown | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FPR1-E346A | het unknown | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FPR1-I11T | het unknown | 0.831 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | RYR2-Q2958R | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | THBD-A473V | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CYP2B6-Q172H | het unknown | 0.295 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign) |
| 0.25 | CYP2B6-K262R | het unknown | 0.298 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | H19-G355R | het unknown | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | H19-V94I | het unknown | 0.361 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | H19-W38R | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ESCO2-A80V | het unknown | 0.147 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CBR3-V244M | het unknown | 0.398 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.014 (benign) |
| 0.25 | FMO3-E158K | het unknown | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDA-K27Q | het unknown | 0.190 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | FKTN-R203Q | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TRIOBP-S217N | het unknown | 0.413 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests |
| 0.25 | TRIOBP-Q398Del | het unknown | 0.308 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TRIOBP-N863K | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.25 | TRIOBP-F1187L | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests |
| 0.25 | TRIOBP-H1300R | homozygous | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.25 | TRIOBP-E1372D | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests |
| 0.25 | TRIOBP-W1377R | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.084 (benign), Testable gene in GeneTests |
| 0.25 | MYH9-I1626V | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CYP4B1-R173W | het unknown | 0.184 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | COL9A2-Q326R | het unknown | 0.403 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PNPLA3-I148M | het unknown | 0.268 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.778 (possibly damaging) |
| 0.25 | PNPLA3-K434E | het unknown | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | IKBKAP-P1158L | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IKBKAP-C1072S | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IKBKAP-I816L | het unknown | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IKBKAP-G765E | het unknown | 0.315 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TSC1-M322T | het unknown | 0.150 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DBH-A318S | het unknown | 0.104 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ERCC6-Q1413R | het unknown | 0.145 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ERCC6-R1213G | het unknown | 0.159 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ERCC6-M1097V | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ARSA-T391S | het unknown | 0.423 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MUSK-S159G | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CLCNKA-R83G | het unknown | 0.653 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CLCNKA-Y315F | het unknown | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CLCNKA-A447T | het unknown | 0.688 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CLCNKA-T454A | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CLCNKA-V457I | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CLCNKA-P683L | het unknown | 0.105 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.927 (probably damaging), Testable gene in GeneTests |
| 0.25 | STIL-H985R | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | STIL-A86V | het unknown | 0.633 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CPT2-V368I | het unknown | 0.477 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | PLCE1-R548L | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.25 | PLCE1-R1575P | het unknown | 0.517 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PLCE1-T1777I | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PLCE1-H1927R | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.25 | KCNQ2-N780T | het unknown | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CALHM1-L86P | het unknown | 1.000 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | SELE-H468Y | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign) |
| 0.25 | SELP-V640L | het unknown | 0.295 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | SELP-D603N | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SELP-S331N | het unknown | 0.228 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CASQ2-T66A | het unknown | 0.427 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CYP4F2-V433M | het unknown | 0.216 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.309 (possibly damaging) |
| 0.25 | CYP4F2-W12G | het unknown | 0.058 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | LEPR-K109R | het unknown | 0.332 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.026 (benign), Testable gene in GeneTests |
| 0.25 | LEPR-Q223R | het unknown | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests |
| 0.25 | BMPR1A-P2T | het unknown | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PCNT-G704E | homozygous | 0.855 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-V1038A | homozygous | 0.847 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-P2274L | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.25 | PCNT-Q2792R | het unknown | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.25 | PCNT-R3245S | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.657 (possibly damaging), Testable gene in GeneTests |
| 0.25 | PCNT-G3266A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | COL6A2-S399N | het unknown | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL11A1-S1547P | het unknown | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL11A1-P1335L | het unknown | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC19A1-H27R | het unknown | 0.447 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign) |
| 0.25 | PON1-Q192R | het unknown | 0.572 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | PON1-L55M | het unknown | 0.230 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | NLRP1-M1184V | het unknown | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NLRP1-V1059M | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.25 | NLRP1-L155H | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.064 (benign) |
| 0.25 | TLR6-S249P | het unknown | 0.855 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | SLC2A9-R294H | het unknown | 0.296 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.25 | SLC2A9-G25R | het unknown | 0.358 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CD19-L174V | het unknown | 0.876 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MUT-I671V | het unknown | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MUT-A499T | het unknown | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LITAF-I92V | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PLA2G7-I198T | het unknown | 0.162 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign) |
| 0.25 | COL9A1-Q621R | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL9A1-S339P | het unknown | 0.507 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LCA5-D26A | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | LCA5-L24S | het unknown | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FANCA-G809D | het unknown | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FANCA-G501S | het unknown | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FANCA-T266A | het unknown | 0.708 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | PTPRJ-Q276P | het unknown | 0.173 | Complex/Other not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.007 (benign) |
| 0.25 | PTPRJ-E872D | homozygous | 0.368 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.047 (benign) |
| 0.25 | LRRC50-E432D | het unknown | 0.113 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.017 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | DHODH-K7Q | het unknown | 0.560 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.004 (benign) |
| 0.25 | IDUA-R105Q | het unknown | 0.147 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FIG4-V654A | het unknown | 0.467 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MMAB-M239K | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ACADS-G209S | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests |
| 0.25 | SERPINA1-E400D | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SERPINA1-R125H | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | NR_028064-H49Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NR_028064-C18W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NR_028064-A9Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TEP1-S116P | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SPATA7-D2N | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SPATA7-V74M | het unknown | 0.412 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYH6-V1101A | het unknown | 0.422 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TCOF1-A1353V | het unknown | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALDH5A1-H180Y | het unknown | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | C13orf40-K6544E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-R6075C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-L6011P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-F5916L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-N5750S | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-R5644T | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-S4943P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-V3805I | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-T3015I | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-T2812P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-G2410R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-E2111Q | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-A1822P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-C1275* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | C13orf40-P773L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-I96V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-C82S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | GHR-I544L | het unknown | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.25 | SACS-V3369A | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-K1516R | het unknown | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-R1826H | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-F2301Y | het unknown | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-D2937Y | het unknown | 0.352 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MICA-W37G | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-Y59C | het unknown | 0.293 | 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 | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-S229G | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-R274Q | het unknown | 0.538 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MICA-G318Shift | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.25 | MICA-C329R | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-P330L | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SPG11-F463S | het unknown | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC28A2-S75R | het unknown | 0.253 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | HLA-L-H17R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | HLA-L-I30V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | HLA-L-A142V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | HLA-L-W144* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | HLA-L-C172Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | SLCO1B3-S112A | het unknown | 0.646 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | SLCO1B3-M233I | het unknown | 0.659 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.131 (benign) |
| 0.25 | POLA2-G583R | het unknown | 0.118 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.024 (benign) |
| 0.25 | COL1A2-P549A | het unknown | 0.907 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SOD2-V16A | het unknown | 0.362 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | ITGB4-L1779P | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ZNF317-Q19H | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.25 | ZNF317-Q19H | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.25 | STXBP2-I526V | het unknown | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALS2-V368M | het unknown | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PON2-S311C | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PON2-A148G | het unknown | 0.257 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | RAX-D44E | het unknown | 0.189 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SULT1C4-D5E | het unknown | 0.371 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MYO7A-L16S | het unknown | 0.550 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYO7A-L1954I | het unknown | 0.552 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ABCB11-V444A | het unknown | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALG8-N222S | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | DSC3-R102K | het unknown | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DSC3-S78T | het unknown | 0.478 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATIC-T116S | het unknown | 0.184 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.25 | NOS3-D298E | het unknown | 0.844 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MAN2B1-R337Q | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAN2B1-T312I | het unknown | 0.324 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAN2B1-L278V | het unknown | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MLH1-I219V | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | AHR-R554K | het unknown | 0.315 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | TNFRSF13B-P251L | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.183 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CCDC66-D5Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CCDC66-Q383R | homozygous | 0.934 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CCDC66-R460Q | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.25 | CCDC66-S606SS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CCDC66-E835V | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.063 (benign) |
| 0.25 | CCDC66-L836S | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | NPSR1-N107I | het unknown | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | NPSR1-S241R | het unknown | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.019 (benign) |
| 0.25 | NPSR1-Q344R | het unknown | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | XPC-A499V | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VWA5A-K122Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | VWA5A-S499I | het unknown | 0.129 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | VWA5A-R506K | het unknown | 0.115 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | COG1-N392S | het unknown | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | C2orf83-W141* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | C2orf83-E104Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | BRIP1-S919P | het unknown | 0.652 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ELN-G422S | het unknown | 0.225 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ELN-G581R | het unknown | 0.048 | Unknown benign | Low clinical importance, uncertain | Probably a benign SNP, not rare (4.8% allele frequency in GET-Evidence data). |
| 0 | TGM1-Y312Shift | het unknown | 0.008 | Recessive pathogenic | Moderate clinical importance, uncertain | No known reports, but predicted to be highly disruptive and cause congenital ichthyosis in a recessive manner. |
| 0 | PEX1-I696M | het unknown | 0.016 | Recessive pathogenic | High clinical importance, uncertain | Reported as a mutation causing peroxisome biogenesis disorder in a single patient, presumably in a recessive manner. |
| 0 | DTNBP1-P272S | het unknown | 0.022 | Recessive protective | Low clinical importance, uncertain | Possibly a slight protective effect against colorectal cancer if homozygous. |
| 0 | SLC4A1-E40K | het unknown | 0.008 | Recessive pathogenic | Moderate clinical importance, uncertain | Rare and reported to cause hemolytic anemia in a recessive manner, although insufficient data is published to establish statistical significance. Polyphen 2 predicts a benign effect. |
| 0 | BTD-D444H | het unknown | 0.007 | Recessive pathogenic | Low clinical importance, well-established | This variant is implicated in partial and profound biotinidase deficiency. Alone, this variant is estimated to have a 52% loss of enzymatic activity. This variant is often found with A171T, and together they are reported to cause profound deficiency. Notably there is a report of asymptomatic double-mutant adults, so symptoms may have variable penetrance. This variant is found compound heterozygously with more serious mutations in cases of partial biotinidase deficiency. |
| 0 | SMARCAL1-P486Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0 | RP1-T373I | het unknown | 0.016 | Recessive pathogenic | High clinical importance, uncertain | Reported to cause recessive retinitis pigmentosa in some Pakistani families. Because it is unclear whether these families have some common ancestry, and because there may be an uncharacterized linked variant, this pathogenic effect of this variant is considered uncertain. |
| 0 | CEP290-I2202Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,759,291,272 bases (96.5% of callable positions, 89.6% of total positions)
Coding region coverage: 31,793,152 bases (95.5% of all genes, 96.7% of genes with clinical testing available)
Chromosomes: chr1, chr10, chr11, chr12, chr13, chr14, chr15, chr16, chr17, chr18, chr19, chr2, chr20, chr21, chr22, chr3, chr4, chr5, chr6, chr7, chr8, chr9, chrM, chrX, chrY