Variant report for huA90CE6

Data source: CGI sample GS000006909
This report: evidence.pgp-hms.org/genomes?c5c0c15780de720964e0c2ee195c8afbaeff0dc7
Person ID: huA90CE6
public profile: my.pgp-hms.org/profile/huA90CE6
Download: source data, dbSNP and nsSNP report (122 MB)
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Show likely pathogenic and rare (<2.5%) pathogenic variants Show all

Row number	Variant	Clinical Importance	Evidence	Impact	Allele freq	Summary	Sufficient
1	JAK2-V617F	High	Well-established	Well-established pathogenic Dominant, Heterozygous	0.000278914	This well known variant is associated with myeloproliferative diseases: it is used as a diagnostic, providing supporting evidence in individuals who already have symptoms. It is seen as an acquired (not inherited) mutation, one of an accumulation of changes that leads to the development of these cancer-like diseases. It is possible to see this variant in whole genome data or genotyping from blood-derived DNA -- but it is unclear how to view the presence of the variant in individuals who don't have symptoms of the disease. Data from Nielsen et al. suggests that such carriers are at much higher risk of developing myeloproliferative disease or other blood cancer (with roughly 50% of still-living individuals developing these diseases by around 10 years after initial samples -- but these numbers are _extremely_ uncertain).	1
2	APOE-C130R	High	Well-established	Well-established pathogenic Complex/Other, Heterozygous	0.135392	This is generally known as the ApoE4 allele of ApoE and is associated with increased risk of Alzheimer's. 20-25% of individuals are heterozygous for this variant, and 1-2% are homozygous. Data from Khachaturian et al. suggests an average 7% of all individuals developed Alzheimer's by the age of 80; when this is split by ApoE4 status: 10% of ApoE4 heterozygotes (3% increased attributable risk), 40% of ApoE4 homozygotes (33% increased attributable risk), and 5% of non-carriers (2% decreased attributable risk). Notably, their model suggests 70-75% of people would eventually develop Alzheimer's by the age of 100 regardless of ApoE4 genotype (and 25-30% are resistant, regardless of genotype), but that ApoE4 variants shift the disease onset to occur significantly earlier (4 years earlier for heterozygous carriers, 13 years for homozygotes).	1
3	C3-R102G	Moderate	Likely	Likely pathogenic Complex/Other, Heterozygous	0.152073	This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%.	1
4	PPARG-P12A	Moderate	Uncertain	Uncertain not reviewed Unknown, Heterozygous	0.0886782		1
5	DRD2-S311C	Low	Likely	Likely pathogenic Dominant, Homozygous	0.0168247	Various studies report this variant in a dopamine receptor is associated with increased risk for schizophrenia. Assuming an average 1% chance of schizophrenia in the general population, combined data suggests carriers of this variant have a risk of 1.4% (0.4% increased risk above average).	1
6	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
7	RET-R982C	Low	Uncertain	Uncertain pathogenic Dominant, Heterozygous	0.016174	Initially suspected of causing Hirschsprung’s disease, this rare variant has been later reported as present in unaffected controls (allele frequency around 1%). Supporting a lack of effect: Panini et al. did not find loss of function effects seen in other variants, and Svensson et al. report unaffected relatives in a family who carried the same variant. OMIM lists it as reported to cause increased susceptibility, but there do not appear to be any statistically significant reports supporting this hypothesis.	1
8	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
9	TP53-P72R	Low	Uncertain	Uncertain pathogenic Unknown, Heterozygous	0.627743	This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x increased risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x decreased risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.	1
10	WFS1-R611H	Low	Uncertain	Uncertain not reviewed Recessive, Carrier (Heterozygous)	0.400446	This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.).	1
11	CPN1-G178D	Low	Uncertain	Uncertain pathogenic Recessive, Carrier (Heterozygous)	0.0356014	This rare variant (around 1% allele frequency) is hypothesized to cause carboxypeptidase N deficiency in a recessive manner, especially if combined with a more severe variant. However the findings lack statistical sigificance: only a single case study of an affected individual links this variant to causing the disease. There aren’t any follow-up in vitro studies testing whether this variant affects protein function.	1
12	PRODH-L289M	Low	Uncertain	Uncertain pathogenic Unknown, Heterozygous	0.00436884	One report suggested that this rare variant (0.9% allele frequency) could be associated with hyperprolinemia and, through this, associated with increased susceptibility to schizophrenia and/or schizoaffective disorder. However, this finding completely lacked statistical significance, and both reported cases were also associated with other potentially causal variants. A later functional study found only a mild functional effect on enzyme activity (78-90% of wildtype activity).	1
13	HFE-H63D	Low	Uncertain	Uncertain pathogenic Recessive, Carrier (Heterozygous)	0.109965	There have been some hypotheses that this variant contributes to causing hereditary hemochromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles.	1
14	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
15	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
16	ADRB2-T164I	Low	Uncertain	Uncertain pharmacogenetic Unknown, Heterozygous	0.0109686	This rare variant in β2-Adrenoceptor has only reported heterozygously (in 2-4% of the population) and strongly decreases the protein’s responsiveness to inducing compounds (agonists). Carriers of this variant are less sensitive to induction of increased heart rate, heart contraction, and vasodilation by β-AR agonists. Mixed data suggests that this variant does not have a significant impact on hypertension or heart disease. It may affect responsiveness to beta blocker drugs.	1
17	FUT2-W154X	Moderate	Well-established	Well-established protective Recessive, Homozygous	0.490519	This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors.	1
18	PRNP-M129V	Low	Well-established	Well-established protective Complex/Other, Homozygous	0.339561	This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru.	1
19	CCR5-S185Shift	Low	Well-established	Well-established protective Recessive, Carrier (Heterozygous)	0.047619	Also known as CCR5-delta32, this variant is associated with resistance to many strains of HIV (but not all strains, only strains that use target the CCR5 protein). Heterozygotes are reported to have slower HIV progression, and homozygotes are very resistant to being infected by these strains.	1
20	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
21	IL7R-T244I	Low	Likely	Likely protective Unknown, Heterozygous	0.210169	The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000).	1
22	KCNJ11-K23E	Low	Likely	Likely protective Unknown, Homozygous	0.738148	This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.	1
23	LPL-S474X	Low	Uncertain	Uncertain protective Unknown, Homozygous	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
24	ARSA-N350S	Low	Well-established	Well-established benign Unknown, Heterozygous	0.183199	This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability.	1
25	EFHC1-R182H	Low	Likely	Likely benign Unknown, Heterozygous	0.0439673	Probably benign. OMIM appears to incorrectly interpret literature as linking this variant to juvenile myoclonic epilepsy; the authors report it as a polymorphism.	1
26	OCA2-R419Q	Low	Likely	Likely benign Unknown, Heterozygous	0.0565161	This variant is associated with eye color, as is OCA2 R305W. Individuals with this variant are reported to be more likely to have green/hazel eyes as opposed to blue/gray eyes. Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).	1
27	FLT4-N149D	Low	Likely	Likely benign Unknown, Homozygous	0.0725056	Other severe variants in this gene are implicated in causing Milroy Disease (primary lymphedema) in a recessive manner. Although this variant is rare (2.3% allele frequency), it is still common enough that it is highly unlikely to have a severe, high penetrance pathogenic effect.	1
28	PMS2-P470S	Low	Likely	Likely benign Unknown, Heterozygous	0.374884	Benign, common variant.	1
29	FBN2-S2580L	Low	Uncertain	Uncertain benign Dominant, Heterozygous	0.0779885	Probably benign -- initially associated with congenital contractual arachnodactyly, but later reports classify it as a nonpathogenic polymorphism.	1
30	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
31	AARS-K967M	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0107827	Tentatively presumed benign because seen in a healthy PGP participant. A damaging effect to the gene is predicted by Polyphen 2 and other variants are reported to cause Chacot-Marie-Tooth neuropathy in a dominant manner.	1
32	DYNC2H1-Q304L	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0484135	Presumed benign.	1
33	COL7A1-P1277L	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0407139	Polymorphism, presumed benign.	1
34	RPGRIP1L-A1183G	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0111545	Probably not pathogenic, although it may have a modifier effect in other diseases. Other disruptive variants in this gene are implicated in causing Joubert Syndrome and Meckel Syndrome in a recessive manner. Although this variant is somewhat rare (1.1% allele frequency) and Polyphen 2 predicts it to be disruptive, most reported disease-causing variants in the gene are more disruptive frameshift or nonsense mutations & occur upstream of this position.	1
35	PKP2-L366P	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.221231	This variant is a benign polymorphism.	1
36	RELN-G1280E	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0112474	Probably benign.	1
37	PCCA-I475V	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0377394	Reported as a polymorphism, tentatively presumed benign.	1
38	AMPD1-P48L	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0940695	Probably benign, ancestral to15173240 pathogenic Q12X mutation.	1
39	RP1-N985Y	Low	Uncertain	Uncertain benign Unknown, Homozygous	0.348671	Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.	1
40	SLC45A2-L374F	Low	Uncertain	Uncertain benign Unknown, Homozygous	0.691764	Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.	1
41	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
42	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
43	PHYH-P29S	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.155326	Probably benign. This variant was implicated as causing Refsum Disease in a recessive manner, but a subsequent publication noted that all instances were linked with other explanatory mutations. The high allele frequency of this variant in the population (7-13%) contradicts a pathogenic hypothesis.	1
44	PCSK9-G670E	Low	Uncertain	Uncertain benign Unknown, Homozygous	0.888269	This variant is likely benign.	1
45	CD19-R514H	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0482432	Presumed benign.	1
46	APOB-Y1422C	Low	Uncertain	Uncertain benign Unknown, Homozygous	0.999628	This position is almost certainly an error in the HG18 reference sequence.	1
47	PTCH1-P1315L	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.29631	Common polymorphism, presumed benign.	1

Row number	Variant	Prioritization score	Allele freq	Num of articles	Zygosity and Prioritization Score Reasons	Sufficient

Exome coverage: 32561420 / 33282720 = 97.83%

Row number	Gene	Chromosome	Coverage	Missing	Length	Missing regions
1	AGRN	1	0.9048550016292	584	6138	955553-955753, 976215-976239, 976247-976253, 976260, 976554, 976558-976578, 976591-976606, 976610-976611, 976720, 976729, 976893, 977517-977532, 981781, 981820, 981852-981905, 981946-981954, 981977-981983, 981989-981990, 981993-982000, 982010-982011, 983392-983422, 983571-983745, 985417
2	GABRD	1	0.94996320824135	68	1359	1950863-1950930
3	PEX10	1	0.98063200815494	19	981	2337923, 2340200, 2343925-2343941
4	ESPN	1	0.67485380116959	834	2565	6485016-6485160, 6485199, 6485205-6485221, 6485232-6485233, 6485259-6485263, 6485268, 6485274-6485283, 6488322-6488336, 6488378-6488392, 6500413-6500432, 6500447-6500475, 6500686-6500868, 6500994, 6501035-6501065, 6505776-6505798, 6505838-6505864, 6505876-6505877, 6505881, 6508701-6508715, 6508725-6508766, 6508787, 6508799-6508859, 6508879-6509064, 6509098
5	PLEKHG5	1	0.95421762307934	146	3189	6529699, 6529702, 6533412, 6534099-6534101, 6534106, 6534110, 6534122, 6534136-6534137, 6534149, 6534152, 6534195-6534224, 6534513-6534606, 6534634, 6534642-6534645, 6557380-6557383
6	KIF1B	1	0.99962356484096	2	5313	10425584-10425585
7	TARDBP	1	0.97831325301205	27	1245	11082339-11082345, 11082519-11082538
8	MASP2	1	0.99951479864144	1	2061	11094885
9	PLOD1	1	0.99771062271062	5	2184	11994840, 11994858-11994861
10	CLCNKA	1	0.99515503875969	10	2064	16358760-16358762, 16360141-16360147
11	CLCNKB	1	0.99660852713178	7	2064	16383399-16383405
12	ATP13A2	1	0.98447643240192	55	3543	17313587-17313616, 17320272-17320287, 17322608, 17322611-17322618
13	ALDH4A1	1	0.99940898345154	1	1692	19229016
14	PINK1	1	0.79725085910653	354	1746	20960042-20960113, 20960115-20960126, 20960134-20960142, 20960148, 20960150-20960167, 20960187-20960428
15	ALPL	1	0.99873015873016	2	1575	21896842, 21903877
16	HSPG2	1	0.99415604128719	77	13176	22165431, 22178110-22178113, 22181445-22181450, 22181457, 22181461, 22199142, 22263648-22263710
17	WNT4	1	0.92708333333333	77	1056	22469339-22469415
18	HMGCL	1	0.99897750511247	1	978	24134721
19	LDLRAP1	1	0.90507011866235	88	927	25870190-25870277
20	SEPN1	1	0.89028776978417	183	1668	26126722-26126904
21	COL9A2	1	0.9975845410628	5	2070	40782859-40782863
22	KCNQ4	1	0.91714559386973	173	2088	41249766-41249914, 41249924-41249927, 41249981-41249982, 41249988-41249989, 41249996-41249998, 41284193-41284199, 41284276-41284279, 41303984, 41303989
23	LEPRE1	1	0.99728629579376	6	2211	43232332-43232336, 43232503
24	MPL	1	0.99737945492662	5	1908	43814977-43814978, 43818344, 43818355-43818356
25	MUTYH	1	0.9993626513703	1	1569	45797217
26	POMGNT1	1	0.99949571356531	1	1983	46662505
27	DHCR24	1	0.97227595099936	43	1551	55352582-55352586, 55352593-55352613, 55352729, 55352745-55352758, 55352772, 55352775
28	PCSK9	1	0.99182299182299	17	2079	55505546-55505549, 55505557-55505563, 55505572-55505577
29	ALG6	1	0.99934640522876	1	1530	63894653
30	RPE65	1	0.99937578027466	1	1602	68904676
31	GLMN	1	0.99943977591036	1	1785	92755769
32	RPL5	1	0.99888143176734	1	894	93307389
33	DPYD	1	0.9990253411306	3	3078	97564186, 97847985, 98060633
34	AGL	1	0.9997825614264	1	4599	100340811
35	COL11A1	1	0.9736118746564	144	5457	103364222-103364236, 103364264-103364265, 103364269-103364293, 103364296-103364301, 103364313, 103364514-103364550, 103405911, 103405969-103405976, 103427760-103427763, 103435775-103435777, 103435791-103435793, 103435802-103435808, 103435817, 103435820, 103471818-103471833, 103471838, 103471850-103471858, 103474019-103474020, 103548507, 103548510
36	GSTM1	1	0.2648401826484	483	657	110230496-110230531, 110230792-110230867, 110231295-110231318, 110231333, 110231670-110231751, 110231847-110231947, 110232893, 110232904-110232940, 110232947-110232988, 110233076-110233153, 110233182-110233186
37	AMPD1	1	0.99019607843137	22	2244	115226964-115226985
38	NGF	1	0.99724517906336	2	726	115828721-115828722
39	CASQ2	1	0.99666666666667	4	1200	116244033-116244035, 116269617
40	NOTCH2	1	0.98840345199569	86	7416	120458264-120458266, 120539739-120539745, 120539778-120539784, 120539834-120539840, 120547962-120547968, 120548022-120548058, 120572582-120572588, 120612000-120612010
41	PRPF3	1	0.99317738791423	14	2052	150307601-150307614
42	FLG	1	0.94017725258493	729	12186	152276164, 152276219-152276225, 152276279-152276285, 152276365-152276389, 152276441-152276462, 152276583, 152276616, 152276626-152276628, 152276668-152276674, 152276696-152276729, 152276758-152276785, 152276861-152276910, 152277000-152277038, 152277052-152277088, 152277392-152277410, 152277717, 152277881-152277887, 152278044-152278058, 152278431-152278437, 152278552-152278558, 152278665-152278693, 152278853-152278859, 152279016-152279022, 152279403-152279409, 152279524-152279530, 152280107-152280113, 152280347, 152280467-152280474, 152280570-152280617, 152280643-152280653, 152280685-152280688, 152280733-152280762, 152280788, 152280864, 152280891, 152280900, 152281225-152281231, 152281287-152281307, 152281621-152281649, 152281991, 152282054-152282100, 152283427-152283433, 152283568, 152283975, 152284149-152284155, 152284175-152284217, 152284266-152284272, 152284779-152284817, 152285134-152285140, 152285208-152285224, 152285999-152286005
43	CHRNB2	1	0.99933730947647	1	1509	154544385
44	PKLR	1	0.99246376811594	13	1725	155269976-155269984, 155269987-155269989, 155269992
45	LMNA	1	0.98765432098765	7	567	156105752-156105758
46	LMNA	1	0.99649122807018	7	1995	156105752-156105758
47	SEMA4A	1	0.99606299212598	9	2286	156131137-156131138, 156131250, 156131254, 156146564-156146568
48	NTRK1	1	0.99079882894187	22	2391	156830727, 156830763-156830772, 156830778-156830781, 156830816-156830822
49	DDR2	1	0.99961059190031	1	2568	162688885
50	TBX19	1	0.97847067557535	29	1347	168274313-168274341
51	F5	1	0.9898127340824	68	6675	169510364-169510370, 169510377-169510434, 169510502, 169510515, 169510524
52	NPHS2	1	0.99652777777778	4	1152	179544869, 179544963-179544965
53	RNASEL	1	0.99955076370171	1	2226	182555150
54	HMCN1	1	0.99727939436953	46	16908	185897739-185897764, 185897779-185897793, 185969339-185969341, 185969349, 185969352
55	PDC	1	0.99730094466937	2	741	186418531, 186418554
56	CDC73	1	0.99937343358396	1	1596	193111072
57	CFH	1	0.99134199134199	32	3696	196658716-196658725, 196658732-196658737, 196659316-196659319, 196659333, 196659342-196659343, 196659346, 196706788, 196716389-196716395
58	CFHR1	1	0.98388721047331	16	993	196788998-196789005, 196797244, 196797289-196797295
59	ASPM	1	0.99865823270079	14	10434	197057522, 197112788-197112799, 197113148
60	IRF6	1	0.99786324786325	3	1404	209969824-209969826
61	USH2A	1	0.99724517906336	43	15609	215914826, 215914852-215914879, 215916550, 215916561-215916563, 215916566-215916572, 215916677, 216251463, 216496877
62	ADCK3	1	0.99845679012346	3	1944	227171934-227171936
63	GJC2	1	0.68257575757576	419	1320	228345555, 228345561-228345570, 228345575-228345576, 228345581, 228345612, 228345618-228345621, 228345624-228345632, 228345637, 228345643-228345648, 228345652, 228345664-228345671, 228345674, 228345677-228345684, 228345757, 228345790-228345792, 228345805, 228345818-228345857, 228345898, 228345921-228345925, 228345999, 228346024-228346111, 228346123-228346130, 228346133-228346134, 228346149-228346151, 228346329, 228346345-228346347, 228346352-228346498, 228346517-228346529, 228346535-228346536, 228346597-228346642, 228346655
64	ACTA1	1	0.98589065255732	16	1134	229567849-229567861, 229567908, 229567920, 229567927
65	GNPAT	1	0.9995105237396	1	2043	231403533
66	LYST	1	0.99359985972295	73	11406	235827328-235827331, 235840842-235840857, 235896808, 235896990-235896991, 235897814, 235897836-235897840, 235907348-235907377, 235944244, 235950500-235950501, 235952061, 235956855, 235967837-235967841, 235971920-235971923
67	ACTN2	1	0.95791433891993	113	2685	236849974-236850062, 236850076-236850099
68	MTR	1	0.99868351764086	5	3798	237013719-237013720, 237058730-237058732
69	RYR2	1	0.99496779388084	75	14904	237619945-237619946, 237656383, 237729971, 237791325, 237796912, 237821244-237821297, 237824123, 237881770, 237881774-237881778, 237881788-237881789, 237881799, 237942005-237942009
70	FH	1	0.99673842139596	5	1533	241663890, 241672043-241672044, 241680542, 241680545
71	NET1	10	0.9927414852038	13	1791	5454748-5454760
72	GATA3	10	0.99775280898876	3	1335	8100745-8100747
73	CUBN	10	0.99806843267108	21	10872	16962051-16962063, 17032436-17032437, 17085900, 17142052, 17142064-17142067
74	PTF1A	10	0.41033434650456	582	987	23481460-23481462, 23481474-23481482, 23481491-23481537, 23481548-23481553, 23481557-23481565, 23481576-23481585, 23481597, 23481608, 23481655-23482150
75	MYO3A	10	0.99505256648114	24	4851	26243923, 26243926-26243929, 26414329-26414347
76	PDSS1	10	0.97035256410256	37	1248	26986722-26986745, 26986758-26986769, 26994268
77	RET	10	0.97787742899851	74	3345	43572707-43572779, 43595968
78	ERCC6	10	0.99955377063811	2	4482	50740778-50740779
79	CHAT	10	0.92790387182911	162	2247	50822275-50822424, 50822430-50822432, 50822481, 50822484-50822486, 50830146-50830150
80	PCDH15	10	0.99541518084564	27	5889	55782763, 55826605-55826611, 55892635-55892645, 55973750-55973752, 56138647, 56138662-56138664, 56138681
81	EGR2	10	0.9916142557652	12	1431	64573336-64573337, 64573340, 64573501, 64573513, 64573525-64573527, 64573532-64573534, 64573539
82	PCBD1	10	0.9968253968254	1	315	72648290
83	CDH23	10	0.99612171837709	39	10056	73375311-73375312, 73537475-73537511
84	VCL	10	0.99765051395007	8	3405	75757966-75757967, 75758060-75758065
85	LDB3	10	0.99862637362637	3	2184	88476089, 88476173, 88476179
86	BMPR1A	10	0.99937460913071	1	1599	88683146
87	GLUD1	10	0.95766249254621	71	1677	88854456-88854526
88	PTEN	10	0.9950495049505	6	1212	89690803-89690806, 89720651-89720652
89	LIPA	10	0.99833333333333	2	1200	90974620-90974621
90	HPS1	10	0.99810066476733	4	2106	100177374-100177376, 100177379
91	HPS6	10	0.94286941580756	133	2328	103825232-103825244, 103825275, 103825289-103825293, 103825315, 103825319, 103825322-103825324, 103825349-103825356, 103825396-103825414, 103825434-103825474, 103825486, 103825490, 103825493, 103825496, 103825503, 103825684, 103825732-103825766
92	SUFU	10	0.95463917525773	66	1455	104263927-104263953, 104263962-104264000
93	COL17A1	10	0.98954161103694	47	4494	105816815-105816861
94	HABP2	10	0.99227569815805	13	1683	115341846-115341850, 115341861-115341868
95	EMX2	10	0.96969696969697	23	759	119302841, 119302845-119302851, 119302855, 119302936-119302940, 119302945-119302950, 119302957, 119302960, 119302998
96	BAG3	10	0.89409722222222	183	1728	121411188-121411359, 121411366-121411367, 121436752-121436755, 121436779-121436781, 121436791-121436792
97	HTRA1	10	0.81704781704782	264	1443	124221169-124221399, 124221412-124221430, 124221460-124221465, 124221480-124221482, 124221502, 124221509-124221511, 124221599
98	OAT	10	0.99924242424242	1	1320	126097123
99	TALDO1	11	0.99605522682446	4	1014	747552-747555
100	SLC25A22	11	0.96399176954733	35	972	792607, 792614, 792635, 792639-792644, 792651-792654, 792660-792667, 792687, 792882-792890, 792940-792943
101	PNPLA2	11	0.86996699669967	197	1515	819719-819905, 823998-824007
102	CTSD	11	0.95399515738499	57	1239	1775033-1775036, 1775294, 1775326-1775335, 1775360-1775368, 1785036-1785040, 1785062-1785089
103	H19	11	0.99906629318394	1	1071	2017852
104	IGF2	11	0.94936708860759	36	711	2161390-2161392, 2161405-2161410, 2161454-2161476, 2161491-2161493, 2161498
105	TH	11	0.98666666666667	21	1575	2187753-2187760, 2187764, 2187768-2187778, 2191989
106	KCNQ1	11	0.88035450516987	243	2031	2466329-2466511, 2466526-2466579, 2466587, 2466590-2466591, 2466600, 2466645, 2466655
107	CDKN1C	11	0.50998948475289	466	951	2905900-2906301, 2906325, 2906329, 2906336, 2906339-2906355, 2906401, 2906404-2906415, 2906437-2906448, 2906451, 2906455-2906472
108	HBD	11	0.93243243243243	30	444	5255629-5255658
109	SMPD1	11	0.99894514767932	2	1896	6411957, 6412766
110	SBF2	11	0.98990990990991	56	5550	9838416, 10315562-10315616
111	ABCC8	11	0.99894648124737	5	4746	17452427-17452428, 17452435-17452437
112	USH1C	11	0.94962962962963	136	2700	17531112-17531166, 17531170-17531175, 17531178, 17531247-17531286, 17531295, 17531298-17531309, 17531315-17531335
113	ANO5	11	0.98869438366156	31	2742	22249063, 22276974-22276975, 22276980-22276986, 22276992-22276994, 22277000-22277010, 22277038-22277044
114	WT1	11	0.88610038610039	177	1554	32456557, 32456572-32456577, 32456589-32456599, 32456602, 32456627, 32456640, 32456646-32456653, 32456666-32456667, 32456672, 32456677-32456682, 32456688, 32456691-32456798, 32456800-32456805, 32456808-32456814, 32456827-32456842, 32456856
115	PDHX	11	0.99933598937583	1	1506	34991753
116	RAG1	11	0.99616858237548	12	3132	36595040, 36595054-36595064
117	SLC35C1	11	0.94602272727273	57	1056	45827607-45827634, 45827789-45827816, 45827836
118	PEX16	11	0.99903938520653	1	1041	45935943
119	RAPSN	11	0.98708635996772	16	1239	47470445-47470460
120	SERPING1	11	0.96606786427146	51	1503	57365744-57365787, 57381925-57381931
121	GIF	11	0.99362041467305	8	1254	59599226-59599233
122	BEST1	11	0.99488054607509	9	1758	61723310, 61723313, 61730278-61730284
123	ROM1	11	0.99337121212121	7	1056	62381337-62381343
124	BSCL2	11	0.99712023038157	4	1389	62457914-62457915, 62457923, 62457934
125	SLC22A12	11	0.99879663056558	2	1662	64367292, 64367296
126	CST6	11	0.98444444444444	7	450	65780411-65780417
127	BBS1	11	0.99887766554433	2	1782	66299432, 66299436
128	SPTBN2	11	0.9995817649519	3	7173	66453479, 66455348, 66461302
129	PC	11	0.99575911789652	15	3537	66620082-66620095, 66633820
130	AIP	11	0.97079556898288	29	993	67257532-67257549, 67257568, 67257804, 67257812-67257819, 67257836
131	NDUFV1	11	0.99068100358423	13	1395	67379899-67379908, 67379927-67379929
132	TCIRG1	11	0.99959887685519	1	2493	67810168
133	LRP5	11	0.98081683168317	93	4848	68080183-68080273, 68133161, 68216521
134	DHCR7	11	0.99649859943978	5	1428	71146581-71146584, 71146596
135	MYO7A	11	0.9996991576414	2	6648	76922283, 76922295
136	FZD4	11	0.99938042131351	1	1614	86666109
137	DYNC2H1	11	0.99042101197373	124	12945	102991497-102991498, 103029509, 103031669, 103043819-103043845, 103043922, 103043954, 103047160-103047163, 103049819, 103052515-103052525, 103062246-103062274, 103062311-103062312, 103062323, 103062334-103062338, 103062342-103062343, 103062989, 103062992, 103070846-103070858, 103106431, 103107159-103107171, 103182701-103182707
138	ATM	11	0.99531130738196	43	9171	108127027-108127034, 108127044-108127067, 108188197, 108196068, 108202176-108202184
139	RDX	11	0.98002283105023	35	1752	110108290-110108324
140	ALG9	11	0.99291938997821	13	1836	111742126-111742138
141	DLAT	11	0.99897119341564	2	1944	111910018, 111910027
142	APOA1	11	0.99129353233831	7	804	116706886-116706892
143	ROBO3	11	0.99951934631098	2	4161	124745936-124745937
144	WNK1	12	0.99944048118618	4	7149	863152, 863176, 994360, 1017087
145	CACNA2D4	12	0.99912126537786	3	3414	1902901-1902903
146	CACNA1C	12	0.99878067367779	8	6561	2794934-2794940, 2797894
147	VWF	12	0.98969438521677	87	8442	6122730, 6125338-6125344, 6127597-6127603, 6127655-6127661, 6128064-6128079, 6128339-6128345, 6128449-6128451, 6131926-6131932, 6131955-6131982, 6132030, 6166105, 6166215, 6166218
148	ATN1	12	0.99720123145816	10	3573	7045911, 7045914-7045916, 7045922-7045925, 7045931-7045932
149	MGP	12	0.99679487179487	1	312	15035928
150	GYS2	12	0.99810606060606	4	2112	21712030-21712031, 21712047, 21716165
151	ABCC9	12	0.99720430107527	13	4650	21998538, 21998568, 21998571, 22025619-22025623, 22063802, 22065998-22066000, 22068662
152	KRAS	12	0.99824561403509	1	570	25380283
153	DNM1L	12	0.99954771596563	1	2211	32866254
154	KIF21A	12	0.99819494584838	9	4986	39688272, 39701440-39701445, 39726733, 39761710
155	LRRK2	12	0.99775843881857	17	7584	40646747, 40653367, 40671723-40671727, 40713873, 40722230, 40761521-40761528
156	IRAK4	12	0.99493853940709	7	1383	44171474, 44171492-44171497
157	COL2A1	12	0.99193548387097	36	4464	48398050-48398085
158	MLL2	12	0.99223546406645	129	16614	49419965-49419968, 49420597-49420600, 49424167, 49424172-49424173, 49426658, 49426672, 49426675, 49426730-49426732, 49426781-49426783, 49426787, 49426794-49426795, 49426836-49426872, 49426890, 49427013, 49427026-49427030, 49427041-49427046, 49427050, 49427053-49427054, 49427057, 49427060, 49427066-49427073, 49427078, 49427236-49427242, 49427260-49427277, 49427282, 49427288, 49427319-49427324, 49427640, 49431313, 49433269-49433274, 49433382
159	DHH	12	0.99160369437448	10	1191	49483711, 49483714, 49483740-49483741, 49483750, 49483767, 49483845-49483848
160	KRT81	12	0.99472990777339	8	1518	52684021-52684027, 52685214
161	KRT86	12	0.97809719370294	32	1461	52695760-52695770, 52696927-52696933, 52699030-52699036, 52699489-52699495
162	KRT6B	12	0.96047197640118	67	1695	52844243, 52844246, 52844265, 52844378-52844395, 52845528-52845534, 52845598-52845604, 52845662-52845686, 52845798-52845804
163	KRT6C	12	0.93982300884956	102	1695	52863657, 52865900-52865928, 52866040-52866043, 52866047-52866049, 52866060, 52867091-52867108, 52867187-52867193, 52867257-52867263, 52867321-52867345, 52867457-52867463
164	KRT6A	12	0.97109144542773	49	1695	52886532-52886559, 52886638-52886644, 52886772-52886778, 52886908-52886914
165	KRT5	12	0.98702763677383	23	1773	52908768, 52908887-52908907, 52908917
166	KRT1	12	0.98811369509044	23	1935	53069223-53069243, 53072489-53072490
167	CYP27B1	12	0.99934512115259	1	1527	58157496
168	GNS	12	0.98915009041591	18	1659	65141655, 65141666-65141681, 65153022
169	LEMD3	12	0.99853801169591	4	2736	65609790, 65612349, 65612391, 65637178
170	CEP290	12	0.99502688172043	37	7440	88448182-88448187, 88462346-88462358, 88496657, 88496660-88496661, 88502873, 88505578-88505580, 88505587-88505589, 88508335, 88514016-88514019, 88519090, 88519093-88519094
171	TMPO	12	0.99808153477218	4	2085	98909904-98909906, 98925569
172	SLC17A8	12	0.99491525423729	9	1770	100774560, 100797894-100797899, 100797903, 100797910
173	TRPV4	12	0.99961773700306	1	2616	110236716
174	ATXN2	12	0.84271943176053	620	3942	112036606-112036841, 112036850-112037233
175	SDS	12	0.98784194528875	12	987	113835143-113835154
176	TBX5	12	0.99871547848426	2	1557	114793631-114793632
177	TBX3	12	0.99820788530466	4	2232	115112054-115112057
178	HNF1A	12	0.99789029535865	4	1896	121438928-121438931
179	EIF2B1	12	0.99782135076253	2	918	124116915-124116916
180	PUS1	12	0.95327102803738	60	1284	132414279-132414288, 132414310-132414341, 132414462, 132414494-132414496, 132414508, 132414522-132414525, 132426004-132426009, 132426015-132426017
181	SGCG	13	0.99543378995434	4	876	23808845-23808848
182	SACS	13	0.99970887918486	4	13740	23908429, 23939323, 23949385-23949386
183	PDX1	13	0.98591549295775	12	852	28498393, 28498427-28498428, 28498434, 28498439, 28498612-28498615, 28498700-28498702
184	B3GALTL	13	0.95323981295925	70	1497	31774222-31774291
185	BRCA2	13	0.99834259530077	17	10257	32903628, 32954019-32954034
186	SPG20	13	0.99950024987506	1	2001	36878617
187	FREM2	13	0.99978969505783	2	9510	39261911, 39425833
188	SLC25A15	13	0.99227373068433	7	906	41373287-41373293
189	SUCLA2	13	0.97988505747126	28	1392	48528348-48528357, 48542832, 48547467, 48547471, 48547481-48547490, 48571054-48571057, 48571060
190	RB1	13	0.9956942949408	12	2787	48934153-48934159, 48947586, 49051514-49051516, 49051535
191	ATP7B	13	0.99954524783993	2	4398	52508963, 52548088
192	SLITRK1	13	0.99952175992348	1	2091	84453797
193	ZIC2	13	0.64165103189493	573	1599	100634319-100634543, 100634554-100634557, 100634559, 100634564, 100634568-100634573, 100634579-100634583, 100634599-100634602, 100634611-100634617, 100634625-100634641, 100634659, 100634664-100634715, 100634718, 100634743, 100634748-100634749, 100634752, 100634791-100634792, 100634798, 100634803, 100634831, 100634914-100634915, 100635004-100635040, 100635051-100635057, 100637644-100637646, 100637711, 100637715-100637860, 100637868, 100637876-100637877, 100637883-100637889, 100637894-100637905, 100637911-100637932
194	PCCA	13	0.99725651577503	6	2187	100915073-100915076, 100925497-100925498
195	ERCC5	13	0.99929228591649	3	4239	103460059, 103460062-103460063
196	COL4A1	13	0.9998003992016	1	5010	110864266
197	F7	13	0.99925093632959	1	1335	113765048
198	F10	13	0.99931833674165	1	1467	113777185
199	GRK1	13	0.98699763593381	22	1692	114321808-114321829
200	TEP1	14	0.99543378995434	36	7884	20841502-20841521, 20851763, 20851766-20851771, 20854734-20854735, 20854745, 20859859-20859864
201	SLC7A7	14	0.99674479166667	5	1536	23282121-23282125
202	PABPN1	14	0.69923995656895	277	921	23790681-23790684, 23790689-23790701, 23790711-23790722, 23790739-23790748, 23790755, 23790766-23790777, 23790782-23790797, 23790814-23790819, 23790827-23791029
203	MYH6	14	0.99982817869416	1	5820	23852451
204	MYH7	14	0.9974173553719	15	5808	23885474-23885480, 23887565, 23889395-23889401
205	NRL	14	0.88235294117647	84	714	24550609-24550621, 24550631, 24550640-24550641, 24550644-24550647, 24550656-24550683, 24550691-24550726
206	FOXG1	14	0.67959183673469	471	1470	29236486-29236956
207	CFL2	14	0.9940119760479	3	501	35183744-35183746
208	NKX2-1	14	0.9195688225539	97	1206	36986594-36986595, 36986709-36986748, 36986762-36986770, 36986774, 36986785-36986795, 36986831, 36986845, 36986850-36986855, 36986858-36986860, 36986863-36986872, 36986875, 36986879-36986887, 36986894, 36986897, 36986919
209	PAX9	14	0.99805068226121	2	1026	37132410-37132411
210	FANCM	14	0.9930047177485	43	6147	45623935-45623973, 45636253, 45667847, 45667855, 45669145
211	C14orf104	14	0.97732696897375	57	2514	50100936-50100942, 50100956-50100996, 50101082-50101090
212	L2HGDH	14	0.99137931034483	12	1392	50713900-50713906, 50745253-50745255, 50745263-50745264
213	ATL1	14	0.99939831528279	1	1662	51089908
214	GCH1	14	0.96281540504648	28	753	55369260, 55369280, 55369289, 55369342-55369366
215	SYNE2	14	0.9991314418066	18	20724	64522833-64522834, 64522843, 64522846, 64676823, 64685217-64685225, 64692116-64692118, 64692127
216	ZFYVE26	14	0.99580052493438	32	7620	68229071-68229076, 68242688, 68274198-68274220, 68282649-68282650
217	ESRRB	14	0.98952193844139	16	1527	76964667, 76964670, 76964674, 76964677-76964682, 76964686, 76964695-76964699, 76964743
218	POMT2	14	0.99201065246338	18	2253	77786870, 77786965-77786969, 77786972-77786975, 77786987, 77786991, 77786994-77786999
219	GALC	14	0.97862001943635	44	2058	88459381-88459396, 88459446-88459457, 88459464-88459479
220	TTC8	14	0.99741602067183	4	1548	89307801-89307804
221	ATXN3	14	0.98895027624309	12	1086	92537354-92537356, 92537360-92537366, 92537376, 92537382
222	VRK1	14	0.9983207388749	2	1191	97304153-97304154
223	AMN	14	0.91042584434655	122	1362	103395509, 103396535, 103396539, 103396542, 103396551-103396660, 103396752, 103396785, 103396813, 103396816-103396819, 103396830
224	INF2	14	0.91146666666667	332	3750	105173751-105173754, 105173758-105173773, 105173776-105173784, 105173856-105174130, 105174151-105174161, 105174265-105174270, 105174273-105174281, 105175989-105175990
225	NIPA1	15	0.82020202020202	178	990	23086234-23086411
226	UBE3A	15	0.99847792998478	4	2628	25616930, 25616939-25616941
227	OCA2	15	0.99960270162892	1	2517	28326957
228	SLC12A6	15	0.98696785403997	45	3453	34549849-34549893
229	CHST14	15	0.94252873563218	65	1131	40763418-40763421, 40763423-40763429, 40763436-40763448, 40763481, 40763492-40763498, 40763503-40763534, 40763537
230	CDAN1	15	0.91476655808903	314	3684	43021454, 43028529-43028531, 43028562-43028566, 43028591-43028592, 43028718-43028719, 43028725-43028727, 43028733, 43028744, 43028749, 43028774-43028978, 43029211-43029300
231	TTBK2	15	0.9954484605087	17	3735	43067851, 43103886-43103892, 43109272, 43109286-43109291, 43109294, 43120184
232	STRC	15	0.98948948948949	56	5328	43897544-43897551, 43910313-43910319, 43910863-43910903
233	STRC	15	0.99641025641026	7	1950	44009775-44009781
234	GATM	15	0.99528301886792	6	1272	45670613, 45670616-45670619, 45670629
235	FBN1	15	0.99791086350975	18	8616	48737599-48737605, 48757809-48757815, 48766560-48766561, 48766775, 48936954
236	CEP152	15	0.99274924471299	36	4965	49036438, 49036498-49036530, 49059576-49059577
237	SCG3	15	0.99715707178394	4	1407	51975276-51975279
238	RAB27A	15	0.99399399399399	4	666	55516101-55516104
239	PPIB	15	0.98310291858679	11	651	64455115-64455123, 64455144, 64455147
240	CLN6	15	0.92094017094017	74	936	68521849-68521922
241	NR2E3	15	0.99909420289855	1	1104	72105815
242	HCN4	15	0.84413067552602	563	3612	73614866-73614876, 73614886-73614890, 73615021-73615024, 73615104, 73615235, 73616189-73616190, 73624536, 73660074-73660611
243	RPS17	15	0.9656862745098	14	408	82821272-82821278, 82823387-82823393
244	RPS17	15	0.9656862745098	14	408	83205615-83205621, 83207730-83207736
245	FANCI	15	0.99949836970153	2	3987	89825003, 89836206
246	POLG	15	0.99220430107527	29	3720	89876836-89876864
247	MESP2	15	0.97738693467337	27	1194	90320122-90320146, 90320149, 90320161
248	BLM	15	0.99905970850964	4	4254	91312718, 91337406-91337407, 91337582
249	VPS33B	15	0.99838187702265	3	1854	91542217-91542219
250	IGF1R	15	0.99878167641326	5	4104	99251214, 99251230, 99473517-99473519
251	HBZ	16	0.71561771561772	122	429	203952-203983, 203990-204028, 204041-204067, 204082, 204085-204086, 204091, 204271-204276, 204282-204285, 204302-204310, 204341
252	HBM	16	0.91784037558685	35	426	216308-216316, 216336-216359, 216422, 216436
253	GNPTG	16	0.99237472766885	7	918	1401984-1401990
254	CLCN7	16	0.96650124069479	81	2418	1524835-1524897, 1524906-1524920, 1524932-1524934
255	GFER	16	0.64401294498382	220	618	2034220-2034384, 2034407-2034413, 2034421-2034464, 2034748-2034751
256	TSC2	16	0.99889380530973	6	5424	2103396-2103401
257	PKD1	16	0.92425650557621	978	12912	2140933, 2140938-2140940, 2140943, 2141105-2141107, 2141131-2141175, 2141424-2141464, 2141509-2141510, 2147186-2147196, 2147202-2147203, 2147939-2147967, 2149962-2149968, 2152086-2152092, 2152126-2152132, 2152384-2152391, 2153299-2153333, 2153437-2153443, 2153477-2153483, 2153592-2153598, 2153690, 2153721-2153736, 2153833-2153840, 2154570-2154576, 2154608-2154609, 2154626, 2155423-2155429, 2155984, 2156021, 2156120-2156126, 2156442-2156450, 2156520-2156526, 2156901-2156941, 2158746-2158752, 2159233, 2159480, 2159989-2159999, 2160460, 2160718-2160731, 2160944-2160976, 2161322, 2161790-2161830, 2162954-2162964, 2164490, 2164532-2164565, 2164808, 2166095-2166101, 2166835-2166845, 2167591-2167597, 2167871-2167878, 2167925-2167935, 2167961-2168000, 2168056-2168075, 2168132-2168174, 2168183-2168218, 2168362-2168421, 2168701-2168733, 2169376-2169379, 2185481-2185690
258	ABCA3	16	0.99863147605083	7	5115	2334356, 2338066-2338067, 2354095-2354098
259	CREBBP	16	0.99181334424887	60	7329	3777771-3777774, 3778437, 3778447-3778450, 3778881, 3778977-3778980, 3778983, 3779172-3779174, 3779245, 3779263, 3779363-3779365, 3779378, 3828706, 3929840-3929841, 3929849, 3929852-3929857, 3929862, 3929881-3929891, 3929896, 3929900, 3929906-3929917
260	GLIS2	16	0.99873015873016	2	1575	4386983, 4387353
261	ALG1	16	0.96057347670251	55	1395	5128855-5128861, 5128867, 5130969-5130999, 5132654-5132662, 5134776-5134782
262	MYH11	16	0.99983164983165	1	5940	15835736
263	ABCC6	16	0.99246453900709	34	4512	16313412, 16315608, 16315645-16315676
264	UMOD	16	0.99895995839834	2	1923	20359864, 20360237
265	OTOA	16	0.99561403508772	15	3420	21742176-21742182, 21752068-21752075
266	OTOA	16	0.99196787148594	8	996	22568190-22568197
267	TUFM	16	0.99634502923977	5	1368	28857417, 28857558, 28857565-28857566, 28857571
268	ATP2A1	16	0.99966733200266	1	3006	28911984
269	PHKG2	16	0.92219492219492	95	1221	30760142-30760236
270	FUS	16	0.96457938013915	56	1581	31195269-31195285, 31195288-31195296, 31195302-31195323, 31195634, 31195684-31195687, 31195691-31195692, 31195717
271	SLC5A2	16	0.99702823179792	6	2019	31500051, 31500056-31500059, 31500062
272	PHKB	16	0.99878123095673	4	3282	47694696-47694699
273	CYLD	16	0.99860237596087	4	2862	50811786-50811788, 50811801
274	SALL1	16	0.99672955974843	13	3975	51175656-51175658, 51175663-51175672
275	RPGRIP1L	16	0.99974670719352	1	3948	53691435
276	MMP2	16	0.98890569843671	22	1983	55513454, 55513460-55513462, 55513465-55513481, 55513485
277	SLC12A3	16	0.99903006789525	3	3093	56921843, 56921847, 56921939
278	HSD11B2	16	0.83825944170772	197	1218	67465152-67465328, 67465371, 67469974, 67469979, 67469988-67470004
279	CDH1	16	0.99773499433749	6	2649	68771348-68771352, 68844215
280	CIRH1A	16	0.99951479864144	1	2061	69173756
281	COG8	16	0.99401848830886	11	1839	69364803, 69373229-69373238
282	GCSH	16	0.99616858237548	2	522	81129813, 81129831
283	GAN	16	0.93478260869565	117	1794	81348719-81348736, 81348758-81348775, 81348786-81348795, 81348801-81348822, 81348829-81348848, 81348862-81348864, 81348867-81348885, 81388209-81388215
284	MLYCD	16	0.81511470985155	274	1482	83932750-83932920, 83932931-83932934, 83932939-83932940, 83932958, 83932964-83932968, 83932973-83932977, 83932984-83932986, 83932988-83932994, 83932996, 83933002-83933007, 83933038-83933039, 83933065-83933072, 83933080-83933122, 83933129-83933130, 83933141-83933142, 83933146-83933152, 83933163, 83933169-83933172
285	FOXF1	16	0.98684210526316	15	1140	86544181-86544182, 86544191, 86544210-86544213, 86544217-86544220, 86544923-86544926
286	FOXC2	16	0.70252324037185	448	1506	86601663-86601670, 86601679-86601686, 86601705, 86601721-86602150, 86602165
287	JPH3	16	0.99599465954606	9	2247	87723327, 87723431-87723434, 87723561-87723562, 87723688, 87724006
288	CYBA	16	0.9234693877551	45	588	88709761-88709773, 88709803, 88709821, 88709824-88709825, 88709828, 88709833, 88709853-88709856, 88709865-88709866, 88709927-88709936, 88717364-88717373
289	GALNS	16	0.92351816443595	120	1569	88923166-88923285
290	SPG7	16	0.98869346733668	27	2388	89574829-89574831, 89574835-89574858
291	FANCA	16	0.99931318681319	3	4368	89805051, 89837041, 89882968
292	TUBB3	16	0.95787139689579	57	1353	89989810-89989866
293	CHRNE	17	0.99865047233468	2	1482	4802770, 4804430
294	GP1BA	17	0.99947916666667	1	1920	4837499
295	PITPNM3	17	0.97880341880342	62	2925	6358699, 6358746-6358780, 6358793-6358802, 6358926-6358931, 6459717-6459726
296	ACADVL	17	0.9994918699187	1	1968	7127974
297	CHRNB1	17	0.99136786188579	13	1506	7360015-7360027
298	MPDU1	17	0.99193548387097	6	744	7490318, 7490527-7490530, 7490533
299	GUCY2D	17	0.94655797101449	177	3312	7906366-7906386, 7906409-7906481, 7906497-7906507, 7906518-7906524, 7906528, 7906531-7906534, 7906578-7906581, 7906597, 7906604, 7906610-7906614, 7906618, 7906638-7906678, 7906708, 7906711, 7906722, 7906766-7906769
300	ALOX12B	17	0.99952516619183	1	2106	7984486
301	ALOXE3	17	0.99953183520599	1	2136	8013756
302	HES7	17	0.85250737463127	100	678	8024889-8024914, 8024930-8024950, 8024973-8024974, 8024980-8024982, 8024987-8025001, 8025004, 8025008, 8025661-8025671, 8025676-8025685, 8025694-8025696, 8025709-8025712, 8025722, 8025727, 8025742
303	MYH8	17	0.99879600963192	7	5814	10301929-10301935
304	MYH2	17	0.9991417782355	5	5826	10446425-10446429
305	COX10	17	0.99924924924925	1	1332	14095309
306	PMP22	17	0.98343685300207	8	483	15164005-15164009, 15164012-15164014
307	RAI1	17	0.99335780457962	38	5721	17696324-17696336, 17696396-17696398, 17696462, 17696485, 17697099-17697108, 17697619, 17698202-17698206, 17698859, 17700000-17700002
308	ATPAF2	17	0.99195402298851	7	870	17942202-17942208
309	MYO15A	17	0.95176059662041	511	10593	18023748-18023752, 18024012-18024045, 18024130-18024236, 18024256-18024283, 18024310-18024311, 18024323-18024512, 18024523-18024526, 18024530-18024531, 18024570-18024628, 18024674-18024682, 18024705-18024743, 18024845, 18049320-18049323, 18049334-18049341, 18057089-18057092, 18057102, 18057105, 18057112, 18057116-18057123, 18057142, 18057152, 18057174, 18061142
310	UNC119	17	0.80636237897649	140	723	26879362, 26879369-26879373, 26879379, 26879384-26879419, 26879428-26879434, 26879441-26879454, 26879456-26879529, 26879574-26879575
311	SLC6A4	17	0.99947173798204	1	1893	28543206
312	NF1	17	0.9924882629108	64	8520	29422328-29422343, 29422364-29422370, 29422376-29422387, 29486049, 29586146, 29654563-29654579, 29663393-29663402
313	PEX12	17	0.9962962962963	4	1080	33904918-33904921
314	KRT10	17	0.86780626780627	232	1755	38975096-38975154, 38975160-38975311, 38975326-38975339, 38975342-38975344, 38975365, 38975370, 38975400-38975401
315	KRT9	17	0.99893162393162	2	1872	39728188, 39728192
316	KRT14	17	0.95066948555321	70	1419	39738749-39738755, 39741304-39741309, 39742627-39742634, 39742645, 39742660, 39742829-39742872, 39742894, 39742898-39742899
317	KRT16	17	0.92827004219409	102	1422	39766265-39766281, 39766631-39766637, 39768490-39768496, 39768658-39768664, 39768671-39768708, 39768721-39768746
318	KRT17	17	0.98152424942263	24	1299	39777013, 39780465-39780471, 39780516-39780531
319	JUP	17	0.99687220732797	7	2238	39913929-39913935
320	STAT5B	17	0.98604060913706	33	2364	40371361-40371364, 40371367-40371394, 40371450
321	NAGLU	17	0.93906810035842	136	2232	40688374-40688381, 40688388, 40688395, 40688402-40688515, 40688531, 40688534-40688535, 40688546, 40688564-40688567, 40688615-40688618
322	WNK4	17	0.9983922829582	6	3732	40939827-40939832
323	SOST	17	0.88785046728972	72	642	41832849-41832870, 41832877-41832926
324	NAGS	17	0.9595015576324	65	1605	42082036-42082042, 42082072-42082086, 42082115-42082149, 42082206, 42082225, 42082228, 42082235-42082239
325	SLC4A1	17	0.99853801169591	4	2736	42328570-42328572, 42331891
326	GRN	17	0.97474747474747	45	1782	42429411, 42429546-42429565, 42429574, 42429577, 42429856, 42429912-42429927, 42429934, 42430074-42430076, 42430122
327	ITGA2B	17	0.99711538461538	9	3120	42452391-42452393, 42452402, 42460958-42460962
328	WNT3	17	0.99906367041199	1	1068	44847265
329	ITGB3	17	0.99070553443177	22	2367	45331237-45331257, 45376769
330	SGCA	17	0.98797250859107	14	1164	48247699-48247712
331	COL1A1	17	0.99681456200228	14	4395	48276790-48276791, 48276794, 48276797-48276804, 48277145-48277147
332	NOG	17	0.9928469241774	5	699	54671622, 54671850-54671852, 54671913
333	TRIM37	17	0.99136442141623	25	2895	57105901-57105905, 57105910, 57105915-57105922, 57105925, 57105937, 57119256, 57158514, 57158518-57158519, 57158522-57158524, 57168676, 57168685
334	AP1S2	17	0.99519230769231	3	624	58179921-58179922, 58180079
335	CA4	17	0.9989350372737	1	939	58235728
336	TBX4	17	0.998778998779	2	1638	59533913-59533914
337	ACE	17	0.93547564396838	253	3921	61554456-61554704, 61574565, 61574583, 61574591, 61574600
338	SCN4A	17	0.99981854472872	1	5511	62038740
339	POLG2	17	0.99931412894376	1	1458	62476480
340	AXIN2	17	0.98973143759874	26	2532	63532988-63533008, 63533099, 63554542-63554545
341	SOX9	17	0.97254901960784	42	1530	70120028-70120065, 70120068, 70120086-70120088
342	COG1	17	0.98810737342847	35	2943	71189253-71189281, 71189308-71189312, 71189425
343	USH1G	17	0.9978354978355	3	1386	72916499-72916501
344	TSEN54	17	0.91840607210626	129	1581	73512642-73512697, 73512878-73512938, 73512959-73512970
345	ITGB4	17	0.99762296580728	13	5469	73736443-73736444, 73738788-73738790, 73749943-73749946, 73749949, 73749972, 73750019, 73751784
346	GALK1	17	0.97201017811705	33	1179	73761116-73761141, 73761180, 73761183, 73761213-73761217
347	UNC13D	17	0.99480598838986	17	3273	73827381, 73832741-73832750, 73832760-73832764, 73832775
348	SEPT9	17	0.91709256104486	146	1761	75398370, 75398767-75398774, 75488711, 75494605-75494740
349	GAA	17	0.99965022735222	1	2859	78086447
350	SGSH	17	0.95891318754142	62	1509	78194037-78194061, 78194076-78194112
351	FSCN2	17	0.96348884381339	54	1479	79495741, 79495760, 79503955-79503959, 79504032-79504078
352	AFG3L2	18	0.97577276524645	58	2394	12377010-12377022, 12377026-12377027, 12377033-12377043, 12377046-12377077
353	NPC1	18	0.99869689861871	5	3837	21123479-21123482, 21166300
354	LAMA3	18	0.99540091981604	46	10002	21269648-21269668, 21269690-21269691, 21269701-21269709, 21426366, 21441759-21441760, 21483936-21483938, 21484518-21484525
355	DSC3	18	0.99814195466369	5	2691	28581704-28581705, 28622601-28622602, 28622606
356	DSC2	18	0.99482631189948	14	2706	28681869-28681882
357	DSG2	18	0.98957402442657	35	3357	29078217-29078225, 29078228, 29078232-29078256
358	LOXHD1	18	0.99984930681133	1	6636	44126909
359	MYO5B	18	0.99332972778078	37	5547	47352944-47352980
360	RAX	18	0.93756003842459	65	1041	56936395, 56936402-56936411, 56936426, 56936431-56936433, 56936481-56936485, 56936501, 56936508-56936527, 56936533-56936537, 56936540, 56936563-56936564, 56936580-56936584, 56936589-56936599
361	LMAN1	18	0.99739073711676	4	1533	57000412-57000413, 57000419-57000420
362	CCBE1	18	0.995085995086	6	1221	57134034, 57134048-57134050, 57134058-57134059
363	TNFRSF11A	18	0.96596434359806	63	1851	59992586-59992648
364	CTDP1	18	0.94802494802495	150	2886	77440021, 77440026-77440160, 77440164, 77440169-77440174, 77440235-77440237, 77513713, 77513721, 77513737-77513738
365	ELANE	19	0.86069651741294	112	804	853262-853373
366	KISS1R	19	0.71846282372598	337	1197	917566, 917615-917620, 918602, 918615-918624, 918667-918668, 920079-920081, 920086-920088, 920095, 920290-920355, 920363-920393, 920402-920457, 920508-920537, 920559-920615, 920627-920630, 920634-920642, 920655-920665, 920698-920738, 920744-920748
367	STK11	19	0.99462365591398	7	1302	1220662, 1226618-1226622, 1226626
368	GAMT	19	0.97530864197531	20	810	1401392-1401394, 1401412-1401414, 1401439-1401442, 1401445-1401446, 1401457, 1401465-1401471
369	RAX2	19	0.9981981981982	1	555	3770692
370	MAP2K2	19	0.92352452202826	92	1203	4123781-4123872
371	TUBB4	19	0.99101123595506	12	1335	6495573, 6495579-6495583, 6495600-6495603, 6495606, 6495677
372	C3	19	0.99078525641026	46	4992	6707087-6707109, 6707116-6707119, 6707122, 6707235, 6707242-6707243, 6713304-6713316, 6720596, 6720599
373	INSR	19	0.98288744275729	71	4149	7293822-7293857, 7293863-7293873, 7293878-7293880, 7293882-7293902
374	MCOLN1	19	0.99311531841652	12	1743	7595268, 7598505-7598515
375	PNPLA6	19	0.99623493975904	15	3984	7615918-7615932
376	STXBP2	19	0.99438832772166	10	1782	7702036, 7702039, 7710085-7710091, 7711151
377	ADAMTS10	19	0.9969806763285	10	3312	8649897-8649899, 8649902, 8649907-8649912
378	TYK2	19	0.99915824915825	3	3564	10463152, 10463192, 10464236
379	DNM2	19	0.95369307309606	121	2613	10828919-10828920, 10828927-10828929, 10828933, 10828949, 10828951-10828958, 10828968-10829060, 10829066-10829072, 10829076-10829077, 10939816-10939819
380	PRKCSH	19	0.99558916194077	7	1587	11558341-11558343, 11558351-11558354
381	MAN2B1	19	0.99538866930171	14	3036	12758356-12758358, 12758362, 12759027, 12759030-12759031, 12759138-12759142, 12759149, 12777477
382	CACNA1A	19	0.90253955591012	733	7521	13318188-13318201, 13318241-13318245, 13318269-13318272, 13318277, 13318281, 13318287-13318291, 13318296-13318310, 13318322-13318626, 13318633-13318867, 13319591-13319599, 13319608-13319609, 13319692-13319697, 13409398, 13409401, 13409473-13409478, 13409488-13409496, 13409508-13409509, 13409542-13409595, 13409603-13409620, 13409649, 13409679, 13409718, 13409808-13409812, 13616924-13616941, 13616949-13616960, 13617006, 13617024
383	NOTCH3	19	0.96382428940568	252	6966	15272208, 15281334-15281335, 15281352, 15288551-15288553, 15288611-15288702, 15288724, 15288733, 15288736-15288741, 15288797-15288809, 15288822, 15288852, 15288860-15288862, 15288870-15288884, 15308380-15308389, 15311615-15311716
384	CYP4F22	19	0.99310776942356	11	1596	15636350-15636360
385	JAK3	19	0.9917037037037	28	3375	17940978-17940989, 17941001-17941003, 17945491-17945496, 17945499-17945505
386	SLC5A5	19	0.99948240165631	1	1932	17984971
387	IL12RB1	19	0.99849170437406	3	1989	18177461-18177463
388	COMP	19	0.96174142480211	87	2274	18899279, 18899282-18899284, 18899300-18899305, 18899311, 18899424-18899446, 18899453-18899469, 18899475-18899477, 18899493-18899494, 18900755, 18900758, 18900779, 18900807-18900819, 18900845-18900847, 18900851, 18900860, 18900865, 18900887, 18900922-18900923, 18901659-18901660, 18901663, 18901669-18901670, 18901679
389	CEBPA	19	0.30362116991643	750	1077	33792523, 33792540-33792542, 33792559-33792562, 33792565, 33792570-33792575, 33792586-33793320
390	SCN1B	19	0.95043370508055	40	807	35521725-35521764
391	MAG	19	0.99308878256247	13	1881	35793393-35793405
392	PRODH2	19	0.99317194289261	11	1611	36303283-36303289, 36303322-36303325
393	NPHS1	19	0.99463231347289	20	3726	36336643-36336661, 36336693
394	SDHAF1	19	0.99425287356322	2	348	36486183-36486184
395	RYR1	19	0.97764106634914	338	15117	38943462, 38943467, 38976662, 38976668, 38976671, 38976674-38976676, 38976680-38976682, 38976703-38976705, 38980900-38980903, 38998419-38998433, 39008231-39008233, 39037153, 39055710-39055711, 39055765-39055766, 39055779-39056072, 39056149, 39056161, 39056168
396	ACTN4	19	0.98940058479532	29	2736	39138484-39138487, 39138495-39138500, 39138511-39138516, 39138519, 39214859, 39214862, 39214872-39214874, 39216470, 39216473-39216478
397	DLL3	19	0.97092084006462	54	1857	39993467-39993470, 39993477, 39993498, 39993509, 39993601, 39993636-39993638, 39993644-39993653, 39993656-39993660, 39997821-39997823, 39997857-39997861, 39997866-39997871, 39997876, 39997880-39997890, 39997915, 39997998
398	PRX	19	0.98609211126311	61	4386	40901098-40901119, 40909619, 40909688-40909725
399	TGFB1	19	0.98721227621483	15	1173	41837040-41837041, 41837052-41837058, 41837067, 41858772-41858773, 41858921, 41858934-41858935
400	ATP1A3	19	0.97009244154432	110	3678	42470794, 42471088-42471118, 42471342-42471378, 42480584-42480623, 42480683
401	BCAM	19	0.97562268150503	46	1887	45312387-45312388, 45312392-45312401, 45312409, 45312413, 45312418, 45315615-45315622, 45321861, 45321864, 45324059-45324079
402	APOE	19	0.9811320754717	18	954	45411902-45411904, 45411912, 45411919-45411920, 45412221, 45412224, 45412230, 45412234-45412242
403	BLOC1S3	19	0.97536945812808	15	609	45682902-45682911, 45682931, 45683015, 45683036, 45683040, 45683067
404	SIX5	19	0.82342342342342	392	2220	46270141-46270147, 46270177-46270184, 46270223, 46271458-46271471, 46271569-46271610, 46271740, 46271762, 46271776-46271821, 46271831-46272102
405	DMPK	19	0.97142857142857	54	1890	46285489-46285499, 46285515-46285539, 46285579-46285580, 46285585, 46285593-46285607
406	FKRP	19	0.9005376344086	148	1488	47259069, 47259100-47259108, 47259144-47259186, 47259272-47259274, 47259278, 47259307-47259336, 47259359-47259365, 47259397, 47259400, 47259408, 47259410-47259412, 47259418, 47259435, 47259439-47259441, 47259465, 47259470, 47259481-47259485, 47259493-47259495, 47259504, 47259550, 47259617, 47259626-47259627, 47259631-47259632, 47259643-47259656, 47259665-47259667, 47259670-47259676, 47259740, 47259977
407	DBP	19	0.75869120654397	236	978	49138837-49138984, 49139007-49139047, 49139067-49139098, 49139118, 49139126-49139139
408	MED25	19	0.99420677361854	13	2244	50334073, 50334126-50334136, 50335407
409	MYH14	19	0.99312714776632	42	6111	50727426-50727433, 50770153, 50770213-50770239, 50780130-50780134, 50780140
410	KCNC3	19	0.64775725593668	801	2274	50823503-50823588, 50826416-50826425, 50826437-50826479, 50831478, 50831506-50831731, 50831745-50831772, 50831825-50831858, 50831870-50831876, 50831880-50831883, 50831886-50831960, 50831962-50831994, 50831999-50832002, 50832004-50832010, 50832013-50832020, 50832025, 50832098-50832131, 50832140-50832339
411	KLK4	19	0.99477124183007	4	765	51412652-51412655
412	NLRP12	19	0.99968612680477	1	3186	54313978
413	PRKCG	19	0.94651384909265	112	2094	54385749, 54385759, 54385768, 54385776, 54385781, 54385784, 54385790-54385791, 54385846, 54385915, 54392920-54392922, 54392930-54392933, 54392944-54392945, 54392948-54392949, 54392971-54392973, 54393140-54393168, 54393177-54393187, 54393197-54393232, 54393244-54393245, 54393252-54393257, 54393268-54393271
414	TNNT1	19	0.9873257287706	10	789	55652313-55652318, 55652323, 55656924-55656926
415	KLF11	2	0.97270955165692	42	1539	10183844-10183885
416	LPIN1	2	0.99925177702955	2	2673	11911792-11911793
417	MYCN	2	0.8752688172043	174	1395	16082569-16082570, 16082597-16082598, 16082601, 16082612, 16082652-16082661, 16082679-16082836
418	MATN3	2	0.97262149212868	40	1461	20212316-20212322, 20212333-20212365
419	APOB	2	0.99861232836693	19	13692	21266754, 21266758-21266763, 21266777-21266778, 21266788-21266796, 21266814
420	POMC	2	0.99129353233831	7	804	25384454-25384460
421	OTOF	2	0.9698031364698	181	5994	26696956, 26697385, 26697391, 26697397, 26697404-26697409, 26697417, 26699759-26699911, 26700093, 26700097, 26700111-26700116, 26700128-26700131, 26712592-26712596
422	C2orf71	2	0.99896560641324	4	3867	29293651-29293653, 29293884
423	ALK	2	0.99732675303311	13	4863	29451785-29451792, 29451828, 30143408-30143411
424	XDH	2	0.99650174912544	14	4002	31572966-31572979
425	SPAST	2	0.83738519719071	301	1851	32289015-32289315
426	CYP1B1	2	0.98958333333333	17	1632	38302015-38302017, 38302020, 38302188, 38302197-38302207, 38302419
427	SOS1	2	0.99875062468766	5	4002	39224073, 39241023, 39241026-39241028
428	ABCG5	2	0.99386503067485	12	1956	44058971-44058974, 44058983-44058986, 44059219-44059222
429	LRPPRC	2	0.99426523297491	24	4185	44204308-44204331
430	SIX3	2	0.98398398398398	16	999	45169358-45169360, 45169435-45169438, 45169441-45169443, 45169446-45169450, 45171753
431	MSH6	2	0.97379377908401	107	4083	48010383-48010388, 48010399-48010400, 48010405-48010409, 48010421-48010431, 48010441-48010480, 48010508, 48010511-48010512, 48010515-48010554
432	LHCGR	2	0.98095238095238	40	2100	48915598-48915610, 48982676, 48982757-48982763, 48982768-48982778, 48982782-48982784, 48982787-48982791
433	FSHR	2	0.99904214559387	2	2088	49189938-49189939
434	NRXN1	2	0.99389830508475	27	4425	50149320-50149324, 50149330-50149331, 51255099, 51255350-51255352, 51255356-51255365, 51255370, 51255389, 51255399, 51255401-51255403
435	EFEMP1	2	0.99122807017544	13	1482	56102088, 56103764-56103769, 56103796, 56144954-56144956, 56144960, 56144963
436	PEX13	2	0.9983498349835	2	1212	61272927, 61272931
437	ATP6V1B1	2	0.99805447470817	3	1542	71163108, 71163114, 71163133
438	MCEE	2	0.984934086629	8	531	71337130, 71351375-71351381
439	SPR	2	0.77989821882952	173	786	73114562-73114566, 73114576-73114614, 73114616, 73114623, 73114627-73114713, 73114782-73114803, 73114815-73114820, 73114826, 73114829-73114831, 73114839-73114840, 73114843-73114848
440	ALMS1	2	0.9962412028151	47	12504	73613030-73613043, 73613046-73613047, 73613265-73613271, 73676928, 73784448-73784460, 73786242, 73786245, 73827996-73828002, 73828342
441	SLC4A5	2	0.99941417691857	2	3414	74513025-74513026
442	DCTN1	2	0.99947875944748	2	3837	74598106-74598107
443	MOGS	2	0.99840891010342	4	2514	74688816-74688818, 74692345
444	HTRA2	2	0.99854756717502	2	1377	74757142-74757143
445	GGCX	2	0.99868247694335	3	2277	85788530-85788532
446	SFTPB	2	0.9956369982548	5	1146	85895269, 85895273-85895276
447	REEP1	2	0.94719471947195	32	606	86564602-86564633
448	EIF2AK3	2	0.99045061175768	32	3351	88926635-88926638, 88926644, 88926651, 88926655-88926656, 88926730-88926732, 88926734-88926752, 88926779-88926780
449	TMEM127	2	0.99023709902371	7	717	96930883, 96930898, 96930911, 96930914-96930916, 96931093
450	SNRNP200	2	0.9993760723756	4	6411	96961294-96961297
451	RANBP2	2	0.97664082687339	226	9675	109347259-109347265, 109347853-109347894, 109357110-109357116, 109363178-109363203, 109368074-109368119, 109370398, 109371656-109371662, 109374971-109375002, 109378593, 109382787-109382793, 109382884-109382891, 109383142-109383148, 109383188-109383194, 109383268-109383274, 109383315-109383321, 109383354-109383360, 109384628-109384634
452	NPHP1	2	0.99459193706981	11	2034	110886767-110886769, 110917764-110917771
453	MERTK	2	0.98033333333333	59	3000	112656313-112656343, 112656350-112656373, 112687071-112687074
454	GLI2	2	0.93698802772527	300	4761	121555025, 121726320, 121728156, 121745819-121745820, 121745827-121745829, 121746081, 121746087-121746091, 121746095, 121746143-121746403, 121746411-121746413, 121746436-121746437, 121746441-121746444, 121746470, 121746481-121746482, 121746793-121746794, 121746804, 121747403-121747409, 121747420, 121747664
455	BIN1	2	0.99943883277217	1	1782	127808379
456	PROC	2	0.90909090909091	126	1386	128178877-128178880, 128178901, 128178907, 128180493-128180517, 128180610, 128180614, 128180637-128180680, 128180686-128180734
457	CFC1	2	0.78422619047619	145	672	131279072, 131280368-131280477, 131280793-131280815, 131285303-131285313
458	LCT	2	0.99861687413555	8	5784	136564741-136564745, 136575555-136575557
459	ZEB2	2	0.9923182441701	28	3645	145274890-145274917
460	MMADHC	2	0.99887766554433	1	891	150432976
461	NEB	2	0.99854811254631	29	19974	152432717, 152432727-152432731, 152432772-152432775, 152432784-152432789, 152432792-152432794, 152432825, 152432844-152432847, 152432855, 152482061, 152482064, 152497120, 152497131
462	SCN2A	2	0.99783981389166	13	6018	166171981-166171992, 166211034
463	SCN1A	2	0.99983324995831	1	5997	166856262
464	SCN9A	2	0.99494438827098	30	5934	167060870-167060871, 167083189-167083214, 167145142, 167145145
465	SLC25A12	2	0.99852724594993	3	2037	172671678-172671679, 172750724
466	ITGA6	2	0.95879120879121	135	3276	173292517-173292552, 173292562-173292583, 173292598-173292639, 173292652, 173292656-173292658, 173292664-173292694
467	HOXD13	2	0.67926356589147	331	1032	176957647-176957850, 176957857-176957885, 176957894-176957991
468	AGPS	2	0.99747091552858	5	1977	178346840-178346843, 178346852
469	PRKRA	2	0.99893842887473	1	942	179296824
470	TTN	2	0.99942143484159	58	100248	179392334, 179392339, 179392361, 179415840-179415843, 179415942, 179425461-179425468, 179425489-179425495, 179447745, 179447755-179447756, 179505989-179506002, 179514894, 179540653, 179543154, 179597586-179597591, 179597594, 179598601, 179598604, 179650759-179650762, 179654186, 179658242
471	COL3A1	2	0.99568279936378	19	4401	189850456, 189870133, 189871663-189871676, 189871679-189871680, 189872664
472	PMS1	2	0.9924973204716	21	2799	190656553-190656555, 190718694, 190718794-190718808, 190719118, 190719139
473	STAT1	2	0.99289835774523	16	2253	191859789, 191859902-191859909, 191862597-191862599, 191862609-191862612
474	CASP8	2	0.99752628324057	4	1617	202149626-202149629
475	ALS2	2	0.99758745476478	12	4974	202574645-202574652, 202626390-202626393
476	NDUFS1	2	0.99954212454212	1	2184	207018360
477	FASTKD2	2	0.99109235818097	19	2133	207632125, 207652749-207652766
478	CPS1	2	0.99977792582723	1	4503	211455621
479	ABCA12	2	0.99858757062147	11	7788	215797395, 215797399, 215798888, 215809769, 215854174-215854180
480	PNKD	2	0.99395509499136	7	1158	219204534, 219204595-219204600
481	WNT10A	2	0.99362041467305	8	1254	219757607-219757609, 219757613-219757615, 219757719, 219757735
482	DES	2	0.99646142958245	5	1413	220283435, 220283592, 220283709-220283711
483	OBSL1	2	0.89492180636092	598	5691	220416269-220416273, 220416276-220416277, 220416282, 220416285, 220416325-220416343, 220416417-220416423, 220417311, 220417319, 220435315, 220435348-220435352, 220435360-220435363, 220435388-220435535, 220435543-220435551, 220435561-220435954
484	COL4A4	2	0.99703791469194	15	5064	227967907-227967912, 227968715, 227984614-227984621
485	COL4A3	2	0.99960103730301	2	5013	228163455, 228163476
486	SLC19A3	2	0.99798792756539	3	1491	228563984, 228563987-228563988
487	UGT1A1	2	0.99625468164794	6	1602	234668980-234668985
488	COL6A3	2	0.99958044891966	4	9534	238249102, 238271966, 238273064, 238283453
489	D2HGDH	2	0.99169859514687	13	1566	242689601-242689602, 242689605, 242707211, 242707214-242707215, 242707232-242707238
490	C20orf54	20	0.99858156028369	2	1410	745967, 746408
491	AVP	20	0.58585858585859	205	495	3063288-3063292, 3063299, 3063304, 3063308-3063310, 3063315-3063318, 3063348-3063448, 3063623-3063681, 3063722-3063727, 3063733, 3063739-3063740, 3063744, 3063773-3063781, 3063794-3063798, 3063805-3063808, 3063811, 3063820, 3063823
492	PANK2	20	0.91768826619965	141	1713	3869770, 3869904, 3869907, 3869948, 3869960, 3870014-3870020, 3870109, 3870185-3870230, 3870247, 3870256-3870330, 3870367, 3870370-3870374
493	JAG1	20	0.99890620727372	4	3657	10654118-10654120, 10654134
494	C20orf7	20	0.99036608863198	10	1038	13782209-13782215, 13782218, 13782269-13782270
495	SNTA1	20	0.84650856389987	233	1518	32031176-32031180, 32031199-32031426
496	GDF5	20	0.99867197875166	2	1506	34025121, 34025132
497	ADA	20	0.996336996337	4	1092	43280240-43280243
498	CTSA	20	0.99532398129593	7	1497	44520238-44520240, 44520248-44520251
499	VAPB	20	0.91939890710383	59	732	56964516-56964573, 57014056
500	GNAS	20	0.99322493224932	5	738	57415326-57415330
501	GNAS	20	0.98073217726397	60	3114	57429617-57429665, 57429691, 57429696, 57429975, 57430099-57430105, 57430375
502	COL9A3	20	0.95231143552311	98	2055	61448417-61448494, 61448963-61448977, 61456357-61456360, 61456364
503	CHRNA4	20	0.97452229299363	48	1884	61981600, 61981613-61981615, 61992469-61992512
504	KCNQ2	20	0.98243604429171	46	2619	62103628-62103632, 62103635-62103636, 62103641-62103642, 62103645-62103646, 62103684-62103702, 62103713-62103724, 62103731, 62103735-62103737
505	SOX18	20	0.30822510822511	799	1155	62679658-62679666, 62679668, 62679767, 62679784, 62679794-62680054, 62680060-62680096, 62680111-62680151, 62680205, 62680211-62680214, 62680217-62680218, 62680225-62680301, 62680310-62680315, 62680512-62680869
506	APP	21	0.99697362732382	7	2313	27394182-27394184, 27394193-27394196
507	BACH1	21	0.98733604703754	28	2211	30715036-30715046, 30715119-30715135
508	IFNGR2	21	0.92800788954635	73	1014	34775850-34775922
509	RCAN1	21	0.66798418972332	252	759	35987059-35987310
510	RUNX1	21	0.996534996535	5	1443	36164448, 36164454, 36164457, 36259358, 36259370
511	CLDN14	21	0.99444444444444	4	720	37833818-37833821
512	HLCS	21	0.99862448418157	3	2181	38309515, 38309524-38309525
513	CBS	21	0.9993961352657	1	1656	44484060
514	CSTB	21	0.94276094276094	17	297	45196107-45196108, 45196111-45196119, 45196128, 45196139, 45196144-45196147
515	AIRE	21	0.9004884004884	163	1638	45705890-45706021, 45712876-45712897, 45712978, 45712984-45712985, 45712991, 45713041, 45713057-45713058, 45714354-45714355
516	ITGB2	21	0.95411255411255	106	2310	46308608-46308626, 46308632-46308718
517	COL18A1	21	0.99316239316239	36	5265	46876531-46876541, 46876561-46876584, 46906791
518	COL6A1	21	0.99060576611597	29	3087	47401780-47401784, 47401787, 47401792, 47401795-47401813, 47407544, 47419591, 47419596
519	COL6A2	21	0.99411764705882	18	3060	47531399, 47531440, 47551982-47551997
520	FTCD	21	0.98216482164822	29	1626	47565732-47565758, 47565775, 47571597
521	PCNT	21	0.99800219758266	20	10011	47744183-47744194, 47754510, 47822312-47822315, 47832832, 47858082-47858083
522	PRODH	22	0.89129229062673	196	1803	18905879-18905885, 18908875, 18923535-18923537, 18923544-18923551, 18923559-18923567, 18923570, 18923634-18923800
523	GP1BB	22	0.3719806763285	390	621	19711468-19711507, 19711513-19711537, 19711546-19711552, 19711560-19711864, 19711872-19711880, 19711883-19711886
524	TBX1	22	0.46774193548387	792	1488	19748428-19748803, 19753340, 19753348, 19753452-19753483, 19753506, 19753912-19754242, 19754248-19754258, 19754276, 19754286, 19754295-19754298, 19754302-19754309, 19754313, 19754318-19754330, 19754347-19754354, 19754365-19754367
525	SMARCB1	22	0.96027633851468	46	1158	24129361, 24129368, 24129371, 24129387-24129417, 24129427-24129437, 24129440
526	HPS4	22	0.99905303030303	2	2112	26849266, 26849278
527	CHEK2	22	0.97047132311187	52	1761	29083906-29083917, 29083948-29083965, 29085165-29085171, 29091837-29091844, 29126433-29126439
528	NF2	22	0.99944071588367	1	1788	30057196
529	SLC5A1	22	0.99248120300752	15	1995	32477863-32477875, 32495223-32495224
530	LARGE	22	0.99691765741964	7	2271	33700240-33700242, 33700254-33700256, 33700259
531	MYH9	22	0.9988101308856	7	5883	36688111, 36689419-36689424
532	TRIOBP	22	0.96773739081431	229	7098	38119745, 38119749-38119757, 38119763, 38119766-38119767, 38119771, 38119798-38119835, 38119856-38119862, 38119879-38119965, 38120038-38120068, 38120153, 38120176-38120178, 38120196, 38120394-38120432, 38120480-38120486, 38122448
533	SOX10	22	0.96431120628123	50	1401	38379667-38379669, 38379672, 38379675-38379686, 38379700, 38379704, 38379710-38379739, 38379750, 38379755
534	EP300	22	0.99503105590062	36	7245	41546101, 41546110, 41546146, 41574086-41574089, 41574166-41574188, 41574191-41574195, 41574199
535	TNFRSF13C	22	0.87567567567568	69	555	42322147, 42322230, 42322244, 42322249-42322268, 42322278-42322279, 42322290, 42322295-42322301, 42322308-42322310, 42322314-42322315, 42322318-42322335, 42322682, 42322698-42322701, 42322735-42322738, 42322756-42322757, 42322773-42322774
536	CYB5R3	22	0.97682119205298	21	906	43045301-43045321
537	ATXN10	22	0.98319327731092	24	1428	46067944-46067963, 46068020, 46068046-46068047, 46068054
538	TRMU	22	0.99921011058452	1	1266	46751373
539	ALG12	22	0.9986366734833	2	1467	50297994, 50297999
540	MLC1	22	0.98941798941799	12	1134	50502479-50502483, 50502487, 50502592, 50502597-50502599, 50502607-50502608
541	TYMP	22	0.75431331953071	356	1449	50964219-50964221, 50964235-50964236, 50964260-50964298, 50964332, 50964430-50964474, 50964480-50964559, 50964675-50964846, 50964854, 50965044, 50965092, 50965135-50965143, 50965155-50965156
542	ARSA	22	0.98490813648294	23	1524	51063682, 51063685, 51063715-51063720, 51063724, 51063730-51063735, 51063739, 51063743-51063746, 51063820, 51063834, 51066189
543	SHANK3	22	0.74961861174676	1313	5244	51113070-51113132, 51113519-51113560, 51113587, 51117766-51117768, 51135951-51136143, 51158615-51158616, 51158627-51158631, 51158724-51159260, 51159308, 51159314-51159315, 51159322, 51159326, 51159376, 51159411-51159420, 51159423, 51159447, 51159450-51159454, 51169157-51169161, 51169225, 51169242, 51169273-51169464, 51169476-51169509, 51169530-51169740
544	FANCD2	3	0.98550724637681	64	4416	10088305-10088346, 10091150-10091156, 10107165-10107171, 10114941-10114947, 10123081
545	VHL	3	0.99844236760125	1	642	10183720
546	COLQ	3	0.99926900584795	1	1368	15563120
547	GLB1	3	0.98475909537856	31	2034	33138511-33138526, 33138529-33138537, 33138560-33138564, 33138569
548	CRTAP	3	0.88640132669983	137	1206	33155634-33155636, 33155644-33155654, 33155680-33155684, 33155789-33155802, 33155818-33155869, 33155886, 33155890-33155936, 33155956, 33155973-33155975
549	MLH1	3	0.99823866138265	4	2271	37090464-37090467
550	ABHD5	3	0.99809523809524	2	1050	43732493-43732494
551	TMIE	3	0.93246187363834	31	459	46742867-46742870, 46742875-46742898, 46742930-46742931, 46742959
552	TREX1	3	0.9990990990991	1	1110	48508891
553	RFT1	3	0.98585485854859	23	1626	53156415, 53156419-53156427, 53156435-53156446, 53156498
554	TKT	3	0.94284188034188	107	1872	53289852-53289958
555	FLNB	3	0.99935971315149	5	7809	58062877, 58062887-58062890
556	ATXN7	3	0.88548273431994	325	2838	63898275-63898599
557	MITF	3	0.99424184261036	9	1563	69928419, 69928422-69928424, 69928450-69928454
558	ROBO2	3	0.99613246313754	16	4137	77657034-77657049
559	GBE1	3	0.99857752489331	3	2109	81754643, 81754699, 81754734
560	PROS1	3	0.9862136878385	28	2031	93595828-93595839, 93596020-93596035
561	CPOX	3	0.91501831501831	116	1365	98311938-98311950, 98312144, 98312147-98312154, 98312180-98312235, 98312248-98312285
562	IQCB1	3	0.99220923761825	14	1797	121500683-121500695, 121526208
563	CASR	3	0.99382143960457	20	3237	122003526-122003544, 122003604
564	GP9	3	0.99625468164794	2	534	128780899, 128780963
565	ATP2C1	3	0.99929824561404	2	2850	130718362-130718363
566	NPHP3	3	0.92737290257951	290	3993	132438549-132438601, 132438612-132438674, 132441026-132441199
567	FOXL2	3	0.60212201591512	450	1131	138664604-138664936, 138664946-138665022, 138665043-138665053, 138665080-138665102, 138665205, 138665209-138665213
568	MRPS22	3	0.98984302862419	11	1083	139067097, 139074561-139074570
569	PLOD2	3	0.99912165129556	2	2277	145804641, 145804651
570	HPS3	3	0.99701492537313	9	3015	148871389-148871397
571	IFT80	3	0.99742268041237	6	2328	159986272, 159995443, 160018738, 160021715, 160099292, 160099474
572	PLD1	3	0.99813953488372	6	3225	171330181-171330182, 171338198, 171338201-171338203
573	SOX2	3	0.9874213836478	12	954	181430179-181430183, 181430238, 181430241-181430242, 181430263-181430266
574	KLHL6	3	0.9989281886388	2	1866	183211933, 183211935
575	ALG3	3	0.99544419134396	6	1317	183960400-183960403, 183966660-183966661
576	OPA1	3	0.99770341207349	7	3048	193355055-193355057, 193382700-193382703
577	PDE6B	4	0.99805068226121	5	2565	619543-619547
578	IDUA	4	0.89041794087666	215	1962	980895-980896, 980900, 980905, 980986, 981640, 996253-996255, 996258-996260, 996265, 996269-996270, 996520-996521, 996545-996551, 996554, 996566-996568, 996590-996596, 996602, 996605, 996628, 996638, 996669-996732, 996824-996896, 996919-996929, 996931, 996934, 996937-996945, 997173-997178, 997185-997194, 997199
579	FGFR3	4	0.99464359291306	13	2427	1795667, 1795677, 1803726, 1803729, 1808614, 1808972-1808979
580	SH3BP2	4	0.91007000538503	167	1857	2819951-2820117
581	HTT	4	0.98218262806236	168	9429	3076600-3076603, 3076604-3076699, 3076721-3076732, 3076738-3076774, 3213775-3213781, 3213790-3213793, 3213797-3213801, 3240314, 3240320, 3240335
582	DOK7	4	0.92607260726073	112	1515	3465103-3465156, 3465233-3465278, 3478069-3478079, 3478112
583	MSX1	4	0.7905701754386	191	912	4861627-4861777, 4861785-4861798, 4861804-4861811, 4861823, 4861871-4861874, 4861891, 4861961-4861970, 4864428, 4864434
584	EVC2	4	0.99949070537306	2	3927	5630301-5630302
585	EVC	4	0.94796911715341	155	2979	5713108-5713227, 5713245, 5713250-5713256, 5713265-5713268, 5809988-5810010
586	SLC2A9	4	0.99445471349353	9	1623	9982315, 9982318-9982325
587	QDPR	4	0.88979591836735	81	735	17513573-17513593, 17513604-17513612, 17513627-17513677
588	CNGA1	4	0.98333333333333	38	2280	47954618-47954630, 47954654-47954656, 47954667-47954677, 47954683, 47954696-47954702, 47973110-47973111, 47973116
589	SGCB	4	0.97074190177638	28	957	52904393-52904420
590	PDGFRA	4	0.99938837920489	2	3270	55156486-55156487
591	ALB	4	0.99945355191257	1	1830	74279267
592	COQ2	4	0.97142857142857	33	1155	84188825, 84188846-84188849, 84205719-84205720, 84205872, 84205879-84205885, 84205889, 84205892-84205902, 84205904, 84205907-84205911
593	CDS1	4	0.998556998557	2	1386	85560107, 85560121
594	PKD2	4	0.86480908152735	393	2907	88928886-88929029, 88929058-88929064, 88929070-88929311
595	SNCA	4	0.99527186761229	2	423	90749294-90749295
596	MTTP	4	0.99776536312849	6	2685	100529990-100529993, 100529996, 100530029
597	MANBA	4	0.99962121212121	1	2640	103595186
598	CISD2	4	0.92647058823529	30	408	103808512-103808522, 103808569-103808587
599	TACR3	4	0.98426323319027	22	1398	104577389, 104640740-104640760
600	ANK2	4	0.99974734714502	3	11874	114161705, 114253191, 114288921
601	BBS7	4	0.99022346368715	21	2148	122775917-122775932, 122775941-122775945
602	GLRB	4	0.9859437751004	21	1494	158041710, 158041717, 158041725, 158041728-158041735, 158041753, 158041756-158041763, 158060048
603	ETFDH	4	0.99244875943905	14	1854	159606341-159606342, 159606363-159606366, 159611570-159611577
604	GK	4	0.98676293622142	22	1662	166199358-166199364, 166199423-166199429, 166200096, 166200757-166200763
605	SLC25A4	4	0.94091415830546	53	897	186064527-186064531, 186064540, 186064553-186064562, 186064568, 186064571-186064577, 186064599-186064600, 186064604-186064630
606	SDHA	5	0.9483709273183	103	1995	218471, 218474, 218482-218484, 218487-218494, 223682-223683, 224475, 225654-225666, 236553-236559, 236646-236684, 251143-251149, 251500-251506, 254526-254532, 254571-254577
607	TERT	5	0.9146807884672	290	3399	1280368-1280389, 1294571-1294616, 1294643, 1294659-1294710, 1294716, 1294723, 1294727-1294732, 1294747-1294759, 1294765-1294772, 1294889-1294913, 1294919-1294925, 1294960-1294961, 1294999-1295104
608	SLC6A3	5	0.99946323134729	1	1863	1414820
609	SDHA	5	0.92660550458716	24	327	1593258-1593267, 1593383-1593389, 1594532, 1594546, 1594561, 1594565-1594568
610	DNAH5	5	0.99387387387387	85	13875	13727661-13727663, 13766199, 13894827, 13894883, 13916457-13916482, 13916488-13916530, 13916550-13916552, 13916555, 13916559-13916564
611	FAM134B	5	0.94511378848728	82	1494	16616780-16616782, 16616808, 16616833, 16616837, 16616847, 16616972-16616973, 16617008-16617080
612	AMACR	5	0.99912967798085	1	1149	33998763
613	NIPBL	5	0.97563874034462	205	8415	37014863, 37036481-37036496, 37036502-37036511, 37036528-37036589, 37048604-37048675, 37048684-37048727
614	LIFR	5	0.98937462052216	35	3294	38482726-38482729, 38490326, 38490385-38490388, 38506012-38506013, 38506019, 38506027-38506042, 38506047-38506050, 38506082-38506084
615	OXCT1	5	0.99936020473448	1	1563	41862826
616	GHR	5	0.99947835159103	1	1917	42718970
617	ITGA2	5	0.99858996051889	5	3546	52285331, 52322674, 52322677, 52322684, 52386424
618	ERCC8	5	0.97984886649874	24	1191	60200622-60200627, 60200630-60200637, 60200646-60200647, 60200654-60200657, 60200686, 60200691, 60200695-60200696
619	NDUFAF2	5	0.89803921568627	52	510	60394829-60394835, 60394855-60394859, 60448594-60448614, 60448633-60448637, 60448652, 60448656-60448657, 60448660, 60448717-60448726
620	SMN2	5	0.97401129943503	23	885	69359242-69359247, 69362945-69362961
621	SMN2	5	0.97401129943503	23	885	70234666-70234671, 70238369-70238385
622	MCCC2	5	0.99408983451537	10	1692	70898407-70898416
623	HEXB	5	0.96947935368043	51	1671	73981086-73981110, 73981131-73981155, 73981224
624	AP3B1	5	0.99208523592085	26	3285	77311287, 77311340-77311342, 77411994-77411995, 77471508, 77523237-77523240, 77563395-77563405, 77563415-77563418
625	ARSB	5	0.80524344569288	312	1602	78280760-78281071
626	VCAN	5	0.99941124521637	6	10191	82834308-82834312, 82834318
627	RASA1	5	0.96342239185751	115	3144	86564710, 86669986-86669990, 86670029-86670137
628	MEF2C	5	0.99929676511955	1	1422	88024362
629	GPR98	5	0.99545478568786	86	18921	89914915, 89914962-89914968, 89941794, 89969879, 90004679, 90016793-90016837, 90049451, 90144563, 90144566, 90144568, 90144578, 90144587-90144593, 90144604-90144612, 90144631-90144638, 90261270
630	PCSK1	5	0.99557913351017	10	2262	95764982-95764991
631	WDR36	5	0.99229691876751	22	2856	110436328-110436330, 110448820-110448821, 110448827, 110448834-110448837, 110448840-110448851
632	HSD17B4	5	0.99412030755314	13	2211	118835119, 118835134, 118861691, 118861694, 118861710-118861718
633	HSD17B4	5	0.96099290780142	11	282	118861691, 118861694, 118861710-118861718
634	ALDH7A1	5	0.99320987654321	11	1620	125918622-125918632
635	LMNB1	5	0.99432140829074	10	1761	126113259-126113263, 126113477-126113479, 126113493, 126141317
636	FBN2	5	0.99530838768738	41	8739	127614507-127614508, 127615941-127615944, 127626498-127626500, 127702091-127702112, 127702122-127702123, 127728940, 127728947, 127728950-127728951, 127873278-127873281
637	MYOT	5	0.96927187708751	46	1497	137221772-137221775, 137221835-137221844, 137221855-137221863, 137221883, 137222903-137222907, 137222913-137222917, 137222933, 137222940-137222943, 137223010-137223012, 137223030-137223033
638	MATR3	5	0.99803459119497	5	2544	138643140-138643141, 138658502, 138658506-138658507
639	NDUFA2	5	0.98333333333333	5	300	140027144-140027148
640	DIAPH1	5	0.99633411887929	14	3819	140953461, 140953522, 140953564-140953575
641	PPP2R2B	5	0.99924924924925	1	1332	146077645
642	ADRB2	5	0.99838969404187	2	1242	148207632-148207633
643	PDE6A	5	0.99728997289973	7	2583	149240506-149240509, 149276014-149276016
644	ITK	5	0.99624261943103	7	1863	156668656-156668662
645	MSX2	5	0.99875621890547	1	804	174151876
646	PROP1	5	0.98972099853157	7	681	177419734-177419740
647	GRM6	5	0.86028853454822	368	2634	178421536, 178421579-178421945
648	SQSTM1	5	0.91761148904006	109	1323	179247937-179247956, 179247972-179248013, 179248029-179248064, 179248076-179248081, 179248103-179248105, 179248109, 179248113
649	FLT4	5	0.98313782991202	69	4092	180046109, 180046355-180046357, 180057041-180057047, 180076488-180076545
650	FOXC1	6	0.51083032490975	813	1662	1610858-1610865, 1610900, 1611172-1611204, 1611278-1612045, 1612055, 1612058-1612059
651	TUBB2B	6	0.98206278026906	24	1338	3225245-3225252, 3225301, 3225474, 3225569-3225575, 3225718-3225724
652	DTNBP1	6	0.97632575757576	25	1056	15627625, 15663063-15663066, 15663069, 15663076-15663094
653	ATXN1	6	0.94199346405229	142	2448	16327684, 16327819-16327959
654	ALDH5A1	6	0.9738919247116	43	1647	24495301-24495307, 24495362-24495364, 24495380-24495389, 24495396-24495399, 24495405, 24495413, 24495419-24495426, 24495438-24495439, 24495455, 24495475, 24495527-24495529, 24495536, 24495557
655	HLA-H	6	0.99866666666667	1	750	29856686
656	TNXB	6	0.96837739761534	61	1929	31976916, 31976926, 31977387-31977394, 31977528, 31977538, 31977552-31977553, 31977994-31978002, 31978498-31978517, 31979476-31979482, 31979520-31979528, 31979963, 31980000
657	CYP21A2	6	0.96908602150538	46	1488	32006200-32006202, 32006211-32006221, 32006337, 32006886, 32006961, 32007787-32007793, 32008195-32008201, 32008893-32008907
658	TNXB	6	0.99285097022547	91	12729	32009648-32009664, 32010122-32010129, 32010269-32010290, 32010728-32010746, 32011235, 32011248, 32012330-32012336, 32012374-32012382, 32012814-32012820
659	HLA-DQA1	6	0.95442708333333	35	768	32609126, 32609168-32609169, 32609181, 32609207, 32609213, 32609216, 32609227, 32609231, 32609236, 32609264, 32609271, 32609286, 32609299, 32609312, 32610387-32610406
660	HLA-DQB1	6	0.61323155216285	304	786	32629124-32629173, 32629199, 32629224-32629234, 32629752-32629767, 32629799-32629812, 32632575-32632657, 32632686-32632699, 32632704-32632807, 32632818, 32632831-32632832, 32634313, 32634331, 32634341, 32634350, 32634365-32634366, 32634369, 32634373
661	COL11A2	6	0.97965841489158	106	5211	33136747-33136760, 33139827-33139830, 33140066-33140074, 33140106-33140142, 33140358-33140395, 33141960-33141963
662	SYNGAP1	6	0.90327380952381	390	4032	33388042-33388108, 33393575, 33393585-33393680, 33405782, 33405821-33405822, 33410910-33410914, 33410925, 33411483-33411490, 33411508-33411716
663	FANCE	6	0.97579143389199	39	1611	35420356-35420367, 35420384-35420394, 35420397, 35420402, 35420414-35420420, 35420528, 35420531-35420535, 35420557
664	TULP1	6	0.99938612645795	1	1629	35480004
665	PRPH2	6	0.99903938520653	1	1041	42672139
666	PEX6	6	0.99728168535508	8	2943	42946602, 42946648-42946650, 42946654, 42946699, 42946705-42946706
667	RSPH9	6	0.99398315282792	5	831	43612853, 43612873-43612876
668	RUNX2	6	0.86845466155811	206	1566	45390330-45390535
669	CD2AP	6	0.99114583333333	17	1920	47563645-47563660, 47563697
670	MUT	6	0.98268974700399	39	2253	49409553-49409591
671	PKHD1	6	0.999836400818	2	12225	51611647, 51889727
672	EYS	6	0.99809220985692	18	9435	64940569-64940580, 65336061, 65523378, 65596694-65596695, 66063433, 66094331
673	LMBRD1	6	0.98706099815157	21	1623	70410665, 70410732, 70410739-70410740, 70428895-70428902, 70451718-70451726
674	RIMS1	6	0.98543020279583	74	5079	72892295-72892298, 72892303, 72892316-72892321, 72892331, 72892335, 72892339, 72892344-72892361, 72892364, 72892383, 72892432, 72892436-72892443, 73102429, 73108753, 73108763, 73108767-73108792, 73108795-73108796
675	SLC17A5	6	0.98387096774194	24	1488	74363516-74363521, 74363527, 74363529, 74363539-74363544, 74363548, 74363588-74363590, 74363593-74363598
676	MYO6	6	0.99663037843442	13	3858	76617322-76617334
677	LCA5	6	0.99952244508118	1	2094	80196757
678	BCKDHB	6	0.99321458863444	8	1179	80881004, 80881056-80881058, 80881078, 80881085, 80881105-80881106
679	NDUFAF4	6	0.99621212121212	2	528	97339119, 97339134
680	PDSS2	6	0.99333333333333	8	1200	107780279-107780284, 107780297, 107780300
681	SEC63	6	0.99430573806395	13	2283	108204297-108204300, 108279160-108279164, 108279170, 108279194-108279196
682	OSTM1	6	0.94825870646766	52	1005	108395629, 108395752-108395797, 108395827-108395830, 108395842
683	FIG4	6	0.99412628487518	16	2724	110059553, 110081475, 110081478-110081481, 110106173-110106181, 110106191
684	LAMA2	6	0.99775712912528	21	9363	129465162, 129475725-129475729, 129513905-129513907, 129513911-129513913, 129618906, 129823905-129823912
685	ENPP1	6	0.94096472282217	164	2778	132129176-132129236, 132129253-132129259, 132171184, 132171187-132171194, 132176129, 132186075, 132203485-132203547, 132203560-132203571, 132203573, 132203577-132203585
686	EYA4	6	0.99114583333333	17	1920	133767805, 133767891, 133769268, 133769275-133769276, 133769285, 133769293, 133777748, 133777761, 133834091-133834098
687	PEX7	6	0.99897119341564	1	972	137167319
688	IFNGR1	6	0.99931972789116	1	1470	137524814
689	PEX3	6	0.98217468805704	20	1122	143792099, 143792133, 143793375-143793392
690	STX11	6	0.98611111111111	12	864	144507817-144507819, 144507826-144507831, 144507843-144507844, 144508216
691	EPM2A	6	0.72690763052209	272	996	146056334-146056591, 146056597-146056608, 146056633-146056634
692	SYNE1	6	0.99931802682428	18	26394	152532670, 152545697, 152545776, 152545783-152545784, 152545793, 152599380-152599382, 152644718, 152644738, 152717921, 152751760, 152774726-152774727, 152774736-152774738
693	TBP	6	0.93627450980392	65	1020	170871014-170871018, 170871025-170871030, 170871034-170871040, 170871047-170871083, 170871092-170871101
694	LFNG	7	0.70877192982456	332	1140	2559496-2559803, 2559812-2559817, 2559822-2559838, 2565091
695	PMS2	7	0.98957126303592	27	2589	6013046-6013052, 6013150-6013156, 6026834-6026843, 6029445, 6029458-6029459
696	TWIST1	7	0.61247947454844	236	609	19156530-19156533, 19156634-19156638, 19156641, 19156646-19156648, 19156708, 19156723-19156944
697	DNAH11	7	0.99801061007958	27	13572	21598506-21598518, 21630577, 21630582, 21630630-21630640, 21893993
698	DFNA5	7	0.99262240107311	11	1491	24742432, 24758687-24758694, 24758794-24758795
699	HOXA13	7	0.61096829477292	454	1167	27239091, 27239097, 27239102-27239106, 27239114-27239118, 27239255-27239696
700	RP9	7	0.77177177177177	152	666	33148833-33148984
701	TXNDC3	7	0.99943406904358	1	1767	37916536
702	GLI3	7	0.99894581488509	5	4743	42005042, 42005562, 42005999, 42006025-42006026
703	CCM2	7	0.97752808988764	30	1335	45039933-45039962
704	DDC	7	0.98960498960499	15	1443	50531071-50531085
705	EGFR	7	0.9757775942747	88	3633	55086971-55087058
706	ASL	7	0.99569892473118	6	1395	65553887-65553890, 65553897, 65554269
707	KCTD7	7	0.83448275862069	144	870	66094052-66094195
708	SBDS	7	0.9933598937583	5	753	66460277-66460281
709	NCF1	7	0.95636363636364	36	825	72639983-72639989, 72640033-72640039, 72643704-72643710, 72645924-72645930, 72648743-72648750
710	ELN	7	0.98804597701149	26	2175	73442540-73442542, 73442545, 73442556-73442572, 73466280-73466282, 73466287, 73466291
711	NCF1	7	0.95566922421142	52	1173	74193665-74193671, 74202423-74202432, 74202987-74203021
712	POR	7	0.9985315712188	3	2043	75614244-75614246
713	HSPB1	7	0.98705501618123	8	618	75932289-75932290, 75932296-75932298, 75932307-75932309
714	CD36	7	0.99929527836505	1	1419	80285946
715	HGF	7	0.99954275262917	1	2187	81399261
716	ABCB4	7	0.99973958333333	1	3840	87037372
717	AKAP9	7	0.99547935858069	53	11724	91609603, 91609631-91609647, 91630244-91630268, 91691722-91691729, 91706260, 91714850
718	PEX1	7	0.99558670820353	17	3852	92122376, 92138655-92138670
719	COL1A2	7	0.98585710802243	58	4101	94030896, 94030899, 94030912-94030927, 94038094, 94049571, 94049918-94049950, 94052304-94052307, 94055310
720	SGCE	7	0.97418879056047	35	1356	94252647-94252652, 94252655-94252682, 94259055
721	SLC25A13	7	0.99556868537666	9	2031	95751296, 95751300-95751307
722	TFR2	7	0.98836242726517	28	2406	100218706-100218709, 100228635, 100229456-100229477, 100238654
723	SERPINE1	7	0.99421009098428	7	1209	100771821-100771823, 100771833-100771836
724	RELN	7	0.99884359641515	12	10377	103151348-103151351, 103191640, 103191645, 103244839-103244841, 103244845-103244846, 103338463
725	SLC26A4	7	0.99189073836961	19	2343	107323647-107323662, 107323672, 107323681, 107323693
726	SLC26A3	7	0.99825708061002	4	2295	107432351, 107432368-107432370
727	DLD	7	0.99869281045752	2	1530	107555986, 107555989
728	IFRD1	7	0.98230088495575	24	1356	112101968, 112102115, 112102119-112102120, 112102127, 112102130-112102137, 112102187-112102197
729	CFTR	7	0.96736439342786	145	4443	117149178-117149182, 117171042-117171049, 117188713-117188753, 117188760-117188800, 117188842-117188853, 117235033, 117235044-117235045, 117235053-117235058, 117235061-117235073, 117235079-117235087, 117235096, 117235107-117235112
730	AASS	7	0.99928083423229	2	2781	121726201, 121769562
731	IMPDH1	7	0.94777777777778	94	1800	128049828-128049842, 128049865-128049869, 128049882-128049955
732	FLNC	7	0.99902176571289	8	8178	128489035, 128498187-128498193
733	BRAF	7	0.99608865710561	9	2301	140494127, 140624404-140624410, 140624418
734	PRSS1	7	0.8991935483871	75	744	142458434-142458454, 142459676-142459682, 142459868-142459878, 142460313, 142460335, 142460366-142460397, 142460752, 142460764
735	CLCN1	7	0.9989888776542	3	2967	143017835-143017837
736	CNTNAP2	7	0.99474474474474	21	3996	145813983-145813988, 145813994-145813997, 147914481-147914490, 147914500
737	KCNH2	7	0.8448275862069	540	3480	150644140, 150644461, 150644464-150644466, 150644700, 150644708, 150644714-150644740, 150644748-150644755, 150644781, 150644811, 150648905, 150655154-150655160, 150655167-150655175, 150655210-150655232, 150655250-150655470, 150655492-150655498, 150655508, 150655512, 150655526, 150655535-150655537, 150655556, 150671848-150671902, 150671910-150671976, 150671982-150671991, 150672000-150672011, 150672029, 150674926-150675001
738	PRKAG2	7	0.95906432748538	70	1710	151329155-151329224
739	SHH	7	0.69042476601872	430	1389	155595594-155595838, 155595849-155596005, 155596020-155596036, 155596094-155596100, 155596110, 155596114, 155596203, 155596354
740	MNX1	7	0.69485903814262	368	1206	156798245, 156798249-156798252, 156798272, 156798284-156798293, 156798304, 156798320-156798326, 156798342, 156798377-156798379, 156799286, 156799289-156799291, 156802383-156802386, 156802391-156802392, 156802537-156802540, 156802543, 156802595-156802870, 156802881-156802919, 156802930-156802937, 156802941, 156802945
741	MCPH1	8	0.99840510366826	4	2508	6357405-6357408
742	GATA4	8	0.80361173814898	261	1329	11565826, 11565889, 11565893, 11565907, 11565994, 11566002, 11566018-11566027, 11566058-11566281, 11566303-11566308, 11566313-11566315, 11566351, 11566356, 11566359, 11566365-11566369, 11566400, 11566403-11566405
743	ASAH1	8	0.99915824915825	1	1188	17941498
744	FGFR1	8	0.99878197320341	3	2463	38285914-38285916
745	ADAM9	8	0.99959349593496	1	2460	38940160
746	ANK1	8	0.99894625922023	6	5694	41581121, 41753981-41753983, 41753986, 41753998
747	HGSNAT	8	0.93815513626834	118	1908	42995640-42995757
748	RP1	8	0.9992273218977	5	6471	55538312, 55538316-55538319
749	CHD7	8	0.99421836780076	52	8994	61654447, 61654452-61654458, 61654461, 61654464-61654477, 61734361-61734368, 61734583-61734601, 61749514, 61778281
750	TTPA	8	0.87574671445639	104	837	63998424-63998462, 63998470-63998471, 63998478-63998491, 63998507-63998514, 63998533-63998571, 63998579-63998580
751	CYP7B1	8	0.99802761341223	3	1521	65528753-65528755
752	EYA1	8	0.99775154581225	4	1779	72184049-72184052
753	CA2	8	0.97828863346105	17	783	86376311-86376314, 86376319-86376324, 86376328-86376334
754	TMEM67	8	0.99397590361446	18	2988	94768006-94768007, 94777680-94777691, 94777849, 94777856-94777857, 94811949
755	GDF6	8	0.87719298245614	168	1368	97156942, 97157138-97157153, 97157158-97157166, 97157173-97157175, 97157214-97157223, 97157242-97157255, 97157258-97157261, 97157264, 97157273, 97157278-97157283, 97157326-97157328, 97157357-97157361, 97157364-97157365, 97157409-97157425, 97157434-97157479, 97157500-97157503, 97157509, 97157513, 97157532, 97172883-97172895, 97172911-97172920
756	VPS13B	8	0.99591462397866	49	11994	100123399, 100123415-100123437, 100123446-100123448, 100123459, 100123473-100123481, 100123488, 100160124-100160126, 100160130, 100514021, 100514033-100514036, 100514067, 100883855
757	DPYS	8	0.99615384615385	6	1560	105479046, 105479058-105479062
758	EXT1	8	0.99821508255243	4	2241	118830725-118830728
759	KCNQ3	8	0.97938144329897	54	2619	133492726-133492779
760	NDRG1	8	0.99409282700422	7	1185	134274316-134274322
761	CYP11B1	8	0.95767195767196	64	1512	143957128-143957132, 143958288-143958294, 143958513-143958533, 143958572-143958602
762	CYP11B2	8	0.97949735449735	31	1512	143993946-143993962, 143994026-143994032, 143994701-143994705, 143996539, 143996553
763	PLEC	8	0.9760939167556	336	14055	144993152-144993154, 144993163-144993166, 144993324-144993326, 144993377-144993378, 144993431, 144993524, 144993739-144993756, 144994366, 144994369, 144994987-144994988, 144995055-144995057, 144995065, 144995356, 144995359, 144995830, 144996202, 144996234-144996246, 144996260, 144996263-144996268, 144996377, 144996403, 144996519, 144996524, 144996529, 144996541, 144996691-144996692, 144996984-144996989, 144997001-144997004, 144997100-144997104, 144997108, 144997133-144997136, 144997846, 144997887-144997891, 144997990, 144998462-144998472, 144998494, 144998498, 144998825, 144998857-144998862, 144998867, 144998873-144998922, 144998945-144998963, 144998972-144998981, 144998984, 144999057-144999061, 144999125, 144999384, 144999441-144999445, 144999752, 144999759-144999761, 144999768, 144999888, 145000017, 145000027, 145000036-145000038, 145000044, 145001722, 145001784, 145001897-145001908, 145003298-145003304, 145003343, 145003346, 145003383, 145003386-145003387, 145003831, 145003844, 145004198-145004217, 145004227-145004230, 145004328-145004333, 145004357, 145004368-145004391, 145005716-145005717, 145006159, 145006164-145006165, 145006184-145006188, 145006298-145006299, 145008166-145008182
764	GPT	8	0.97853789403085	32	1491	145730780, 145731271, 145731275, 145731283-145731284, 145731412, 145731453-145731462, 145731472-145731475, 145731887, 145731895-145731897, 145731919-145731924, 145732021, 145732031
765	RECQL4	8	0.98042459332782	71	3627	145737909, 145743099-145743168
766	DOCK8	9	0.99666666666667	21	6300	214977, 214995-215001, 439378, 452030, 452043-452045, 452048-452055
767	KCNV2	9	0.98717948717949	21	1638	2718019, 2718023, 2718032, 2718328-2718334, 2718749-2718751, 2718764-2718767, 2718954-2718956, 2718968
768	GLIS3	9	0.98209810239885	50	2793	4117937, 4118020-4118059, 4118085-4118093
769	JAK2	9	0.99146807884672	29	3399	5069118, 5069123-5069128, 5069149-5069152, 5077483, 5077494, 5077499, 5077511-5077513, 5077517, 5077529, 5077550, 5077567-5077575
770	GLDC	9	0.99836761345087	5	3063	6645356-6645357, 6645364, 6645383, 6645465
771	B4GALT1	9	0.99498746867168	6	1197	33167138-33167141, 33167144-33167145
772	VCP	9	0.99297810821974	17	2421	35059643-35059659
773	FANCG	9	0.99946495452113	1	1869	35078297
774	TPM2	9	0.9953216374269	4	855	35682133-35682136
775	FXN	9	0.98420221169036	10	633	71650826, 71650857-71650863, 71668103-71668104
776	TMC1	9	0.99956197985107	1	2283	75403399
777	TRPM6	9	0.99802273850717	12	6069	77411727-77411738
778	VPS13A	9	0.98897637795276	105	9525	79820275-79820281, 79820321-79820324, 79841393, 79841423-79841425, 79862309-79862310, 79896801, 79898353, 79908409-79908424, 79929006, 79929012, 79929017-79929018, 79929456, 79930321-79930325, 79931123, 79931184-79931187, 79931191-79931192, 79931204, 79932569-79932573, 79932587-79932589, 79932598-79932602, 79932611-79932612, 79933163-79933164, 79933356-79933368, 79938113, 79946961, 79947012-79947029, 79974317, 79996931
779	AUH	9	0.99411764705882	6	1020	94124161-94124166
780	ROR2	9	0.99329096045198	19	2832	94712211-94712217, 94712228-94712239
781	PTCH1	9	0.9755985267035	106	4344	98209630-98209633, 98268793, 98270471-98270531, 98270584-98270622, 98270643
782	FOXE1	9	0.47326203208556	591	1122	100616210-100616271, 100616324-100616356, 100616379-100616414, 100616420-100616436, 100616449-100616455, 100616462-100616485, 100616489, 100616497, 100616506-100616511, 100616532-100616561, 100616583, 100616603-100616617, 100616622, 100616628, 100616638, 100616643-100616644, 100616687-100616986, 100617058, 100617061-100617067, 100617078, 100617087-100617097, 100617111-100617141, 100617170-100617171
783	TGFBR1	9	0.93584656084656	97	1512	101867488-101867584
784	INVS	9	0.98905565978737	35	3198	102988463, 103015389, 103015393, 103046727-103046758
785	BAAT	9	0.99920445505171	1	1257	104133682
786	IKBKAP	9	0.99974993748437	1	3999	111656322
787	MUSK	9	0.99731800766284	7	2610	113562942-113562945, 113562951-113562953
788	DFNB31	9	0.97209985315712	76	2724	117240866, 117266817-117266818, 117266821-117266826, 117266842-117266865, 117266870, 117266912-117266915, 117266925-117266936, 117266939, 117266943-117266948, 117266960-117266965, 117266973-117266976, 117266989, 117267001-117267008
789	NR5A1	9	0.99350649350649	9	1386	127245163-127245168, 127245185, 127265575, 127265589
790	LMX1B	9	0.89276139410188	120	1119	129376806, 129376836, 129376849, 129377662-129377748, 129377760-129377773, 129377782, 129456049-129456051, 129456057-129456067, 129456078
791	STXBP1	9	0.97792494481236	40	1812	130374683-130374719, 130415998-130415999, 130416010
792	GLE1	9	0.99761564139247	5	2097	131285999-131286003
793	TOR1A	9	0.99299299299299	7	999	132586324-132586328, 132586333, 132586345
794	SETX	9	0.99713716704008	23	8034	135139875-135139881, 135139897, 135139901, 135153597, 135153601-135153603, 135158653-135158659, 135158664, 135158667-135158668
795	TSC1	9	0.99685264663805	11	3495	135771988-135771990, 135771993-135771997, 135777002-135777004
796	CEL	9	0.8300308234258	386	2271	135944521-135944528, 135944583-135944589, 135945994-135946018, 135946654-135946999
797	SURF1	9	0.96345514950166	33	903	136223168, 136223285, 136223290-136223305, 136223307-136223320, 136223329
798	ADAMTS13	9	0.97408963585434	111	4284	136293754-136293833, 136293837, 136293856-136293884, 136308643
799	SARDH	9	0.99709829524846	8	2757	136535738-136535744, 136555502
800	COL5A1	9	0.98024288562625	109	5517	137534034-137534141, 137726883
801	LHX3	9	0.89247311827957	130	1209	139089332, 139089335, 139089344-139089345, 139089360-139089363, 139089374, 139090771-139090776, 139090779-139090823, 139090841-139090844, 139090867-139090905, 139094817-139094839, 139094878-139094881
802	INPP5E	9	0.95813953488372	81	1935	139327013-139327016, 139333153-139333163, 139333166, 139333192, 139333201, 139333312-139333318, 139333327-139333329, 139333332-139333345, 139333348, 139333633-139333634, 139333836-139333871
803	NOTCH1	9	0.98982785602504	78	7668	139390977, 139391168-139391178, 139391553, 139391830-139391831, 139391877, 139391991, 139407482, 139440179-139440238
804	AGPAT2	9	0.83990442054958	134	837	139581663-139581686, 139581698-139581710, 139581713-139581809
805	SLC34A3	9	0.96388888888889	65	1800	140128324-140128377, 140128587, 140128614, 140128617, 140128627, 140128900, 140130760-140130763, 140130775-140130776
806	EHMT1	9	0.99409802412112	23	3897	140513481-140513501, 140637823-140637824
807	KAL1	X	0.9985315712188	3	2043	8699935-8699937
808	ARX	X	0.82711663706335	292	1689	25031269-25031289, 25031299, 25031311, 25031474, 25031545-25031812
809	RPGR	X	0.95229835212489	165	3459	38145324-38145367, 38145412, 38145448-38145489, 38145499-38145502, 38145525-38145530, 38145538-38145570, 38145603, 38145647-38145680
810	NYX	X	0.90594744121715	136	1446	41332874-41332880, 41332935-41332976, 41333000-41333005, 41333016-41333043, 41333071-41333104, 41333260-41333265, 41333275-41333282, 41333359-41333363
811	SYN1	X	0.97167138810198	60	2118	47433520, 47433640, 47433645, 47433669-47433674, 47433679, 47433692-47433739, 47433843, 47433905
812	CFP	X	0.99148936170213	12	1410	47488964-47488975
813	WAS	X	0.99072233267064	14	1509	48547187-48547199, 48547238
814	AR	X	0.97864639884184	59	2763	66765155, 66765158-66765159, 66765165-66765170, 66765176-66765203, 66766363-66766374, 66766379-66766386, 66766396-66766397
815	DLG3	X	0.99714751426243	7	2454	69665053-69665055, 69665284-69665287
816	MED12	X	0.99280685644322	47	6534	70338619-70338624, 70338635-70338642, 70338649-70338654, 70338671, 70338678-70338703
817	GJB1	X	0.99530516431925	4	852	70444376-70444379
818	TAF1	X	0.9706089405139	167	5682	70586165-70586295, 70586304-70586305, 70586308-70586310, 70586314-70586344
819	ATRX	X	0.99919775371039	6	7479	76763924-76763929
820	BRWD3	X	0.99759659826216	13	5409	80064958-80064970
821	ZNF711	X	0.99912510936133	2	2286	84523300-84523301
822	PCDH19	X	0.99879007864489	4	3306	99663576-99663579
823	HPRT1	X	0.97260273972603	18	657	133594342-133594357, 133594367-133594368
824	ZIC3	X	0.98504273504274	21	1404	136648985-136648987, 136651117-136651133, 136651217
825	SOX3	X	0.7337807606264	357	1341	139585901-139585937, 139585954, 139585962-139585987, 139586045-139586051, 139586077-139586084, 139586146-139586175, 139586195-139586203, 139586222-139586434, 139586452-139586477
826	SLC6A8	X	0.86268343815514	262	1908	152954030-152954291
827	ABCD1	X	0.98972296693476	23	2238	153008675-153008678, 153009137-153009155
828	MECP2	X	0.95858383433534	62	1497	153363061-153363122
829	OPN1MW	X	0.99360730593607	7	1095	153455595-153455601
830	OPN1MW	X	0.99360730593607	7	1095	153492713-153492719
831	USP9Y	Y	0.99387063119457	47	7668	14898529-14898575

Effect rank	Variant	Phase/ Zygosity	Allele freq	Impact	Evaluation	Summary / Info
3	DRD2-S311C	homozygous	0.023	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.799 (possibly damaging), Testable gene in GeneTests with associated GeneReview
3	LPL-S474*	homozygous	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.
2.5	RET-G691S	het unknown	0.167	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
2.5	RET-R982C	het unknown	0.016	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 6 Polyphen 2: 0.885 (probably damaging), Testable gene in GeneTests with associated GeneReview
2.5	JAK2-V617F	het unknown		Unknown pathogenic	Insufficiently evaluated	Prioritization score: 5 Polyphen 2: 0.997 (probably damaging), 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	het unknown	0.822	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	CPN1-G178D	het unknown	0.016	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 5 Polyphen 2: 0.982 (probably damaging), Testable gene in GeneTests
2.5	C3-P314L	het unknown	0.079	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview
2.5	C3-R102G	het unknown	0.053	Complex/Other pathogenic	Moderate clinical importance, likely	This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%.
2.5	PRODH-R521Q	homozygous	0.887	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
2.5	PRODH-L289M	het unknown		Unknown pathogenic	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests
2.5	PRODH-W185R	het unknown	0.826	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
2	SEMA4A-R713Q	het unknown	0.062	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.553 (possibly damaging), Testable gene in GeneTests
2	NEFL-S472Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview
1.5	KCNJ11-V337I	homozygous	0.761	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5	KCNJ11-K23E	homozygous	0.711	Unknown protective	Low clinical importance, likely	This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.
1.5	PRNP-M129V	homozygous	0.258	Complex/Other protective	Low clinical importance, well-established	This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru.
1.5	ADRB2-G16R	het unknown	0.477	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1.5	ADRB2-E27Q	homozygous	0.773	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1.5	ADRB2-T164I	het unknown	0.008	Unknown pharmacogenetic	Low clinical importance, uncertain	Summary for this variant not displayed. It may contain a Unicode character preventing it from being properly processed.
1.5	PPARG-P12A	het unknown	0.051	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.979 (probably damaging), Testable gene in GeneTests
1.25	TP53-P72R	het unknown	0.550	Unknown pathogenic	Low clinical importance, uncertain	This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x increased risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x decreased risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.
1.25	RNASEL-D541E	homozygous	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	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	FLT4-H890Q	homozygous	0.355	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.714 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1	FLT4-N149D	homozygous	0.023	Unknown benign	Low clinical importance, likely	Other severe variants in this gene are implicated in causing Milroy Disease (primary lymphedema) in a recessive manner. Although this variant is rare (2.3% allele frequency), it is still common enough that it is highly unlikely to have a severe, high penetrance pathogenic effect.
1	GCKR-S183F	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	GCKR-L446P	homozygous	0.673	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	GCKR-R478H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	CYP1B1-N453S	homozygous	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	CYP1B1-A119S	het unknown	0.080	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	KCP-H313Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	EYS-R2326Q	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	EYS-N1902I	homozygous	0.316	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	EYS-L1873V	het unknown	0.081	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	EYS-S1517G	het unknown	0.099	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	EYS-R1515W	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	EYS-I1451T	het unknown	0.099	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	EYS-L1419S	homozygous	0.780	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	EYS-I1361V	het unknown	0.098	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	EYS-Q1325E	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	EYS-I1263V	het unknown	0.098	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	EYS-L852P	het unknown	0.655	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	EYS-E641V	het unknown	0.112	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	EYS-G631S	het unknown	0.596	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	HADHB-T2TT	homozygous	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	CYP4F2-V433M	homozygous	0.216	Recessive pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.309 (possibly damaging)
1	APOE-C130R	het unknown	0.010	Complex/Other pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests
1	NEURL4-R1406H	homozygous	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.912 (probably damaging)
1	ADH1B-H48R	homozygous	0.678	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	BC040901-C89W	homozygous	0.706	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	BC040901-P93S	homozygous	0.548	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	BC040901-A106Shift	homozygous	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	HSH2D-S223Shift	homozygous	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ATG9B-A765Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ICAM1-G241R	het unknown	0.060	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.948 (probably damaging)
1	ICAM1-K469E	homozygous	0.297	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	SH2B1-T484A	homozygous	0.217	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	VDR-M1T	homozygous	0.687	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1	CUL7-Q813R	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	KRT4-Q230R	het unknown	0.301	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	KRT4-G160GAGGFGAGFGTGGFG	homozygous	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	KRT4-A146V	het unknown	0.241	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	SPG7-T503A	het unknown	0.095	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1	SPG7-R688Q	het unknown	0.072	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1	SEBOX-L207S	homozygous	0.913	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	SEBOX-W10Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ENO3-N71S	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	ENO3-V85A	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	AIM1-E1196A	homozygous	0.935	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.015 (benign)
1	CCDC66-D5Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	CCDC66-Q383R	homozygous	0.934	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	CCDC66-R460Q	homozygous	0.206	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.999 (probably damaging)
1	SCARB1-G2S	het unknown		Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.937 (probably damaging)
1	ALG1L2-L157Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	FUT2-W154*	homozygous	0.364	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
1	FUT2-G258S	homozygous	0.390	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.954 (probably damaging)
1	ZNF167-N494Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	B3GNT6-L316Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	B3GNT6-L335Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	RPGRIP1L-A1183G	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.906 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	RPGRIP1L-T1143S	het unknown	0.086	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	AK094914-K152N	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	AK094914-T33Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	AK094914-M25Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	AK094914-C16Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	AK094914-A13Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	PIK3R6-L609Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	SCN5A-F1950L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	SCN5A-H558R	homozygous	0.215	Unknown pharmacogenetic	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-A19840P	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-K11752E	het unknown	0.056	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-D6352H	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-S3419N	homozygous	0.850	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-V3261M	homozygous	0.840	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-S1772G	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 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	ERCC2-K751Q	homozygous	0.218	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	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
1	PLEC-A3171V	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	PLEC-R2969H	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	PLEC-S2791P	homozygous	0.272	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	PLEC-A2194V	homozygous	0.210	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	PLEC-H1459R	homozygous	0.512	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	PLEC-R1386Q	homozygous	0.276	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	PLEC-A641V	homozygous	0.210	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	FSTL4-E353D	homozygous	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.993 (probably damaging)
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	IL13-Q144R	homozygous	0.766	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
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	NR_027127-W61*	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
1	CHRNA5-D398N	het unknown	0.158	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign)
1	VSIG10L-Q860Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	VSIG10L-R592Q	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	VSIG10L-M356I	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	VSIG10L-N3T	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	FAM83F-R436G	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.939 (probably damaging)
1	AX746964-G175Shift	homozygous	0.034	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	AX746964-K166I	homozygous	0.628	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	SEPN1-C108Y	homozygous	0.789	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	SEPN1-N467K	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	RPS6KA3-I38S	homozygous	0.011	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	RAB40A-H45L	homozygous	0.022	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.907 (probably damaging)
1	PADI6-V343Shift	homozygous	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	FAM58A-Q15Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 3 Frameshift, Testable gene in GeneTests
1	FAM58A-G4Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 3 Frameshift, Testable gene in GeneTests
1	TCEAL6-Q175Shift	homozygous	0.022	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ATP7A-V767L	homozygous	0.332	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	ATP7A-E1350K	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	ZNF674-R201*	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 3 Nonsense mutation, Testable gene in GeneTests
1	BC112980-K147Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	DGKK-L1014Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ENG-V504M	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	ALG6-S306F	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HRNR-H2772R	het unknown	0.516	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-HR2748QH	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	HRNR-Y2746H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	HRNR-S799T	het unknown	0.569	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-R664Q	het unknown	0.568	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-Y517C	het unknown	0.185	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-G492R	het unknown	0.588	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-E473G	homozygous	0.951	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-G427D	het unknown	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	het unknown	0.383	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-R85H	het unknown	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	NR_027242-N339Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	NR_027242-L114P	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	NR_027242-Q97Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	NR_027242-L22P	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	NPRL3-L489Shift	homozygous	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	KRTAP7-1-Y17Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	FTCD-A438V	homozygous	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	HABP2-T50M	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	DEFB126-P106Shift	homozygous	0.023	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	het unknown	0.161	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.486 (possibly damaging)
1	CHIT1-V357V*	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation, Testable gene in GeneTests
1	CHIT1-G102S	het unknown	0.268	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.057 (benign), Testable gene in GeneTests
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	PLEKHA2-P389Shift	homozygous	0.032	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	COL18A1-A683T	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	COL18A1-PGP1362Del	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
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.
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-P237S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 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).
0.75	NAT2-R197Q	het unknown	0.272	Recessive pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.75	NAT2-R268K	homozygous	0.675	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.75	NAT2-G286E	het unknown	0.065	Recessive pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
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	KIAA1949-G339R	het unknown	0.050	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.995 (probably damaging)
0.5	PKHD1-Q4048R	het unknown	0.566	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKHD1-Q3899R	het unknown	0.546	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKHD1-L1870V	homozygous	0.905	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKHD1-N830S	het unknown	0.099	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PROP1-P196L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 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	TULP1-K261N	homozygous	0.805	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TULP1-I259T	het unknown	0.344	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TULP1-T67R	homozygous	0.877	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-H-E47K	het unknown	0.061	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-H-Q61R	het unknown	0.288	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-H-R100C	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-H-L145R	homozygous	0.293	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-H-A147V	homozygous	0.278	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-H-G181*	het unknown	0.114	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.5	HLA-H-S182W	het unknown	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	het unknown	0.729	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	HLA-L-H17R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	HLA-L-I30V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	HLA-L-R38Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	HLA-L-A142V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	HLA-L-W144*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	HLA-L-C172Y	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	MSX2-M129T	homozygous	0.716	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-DQA1-L8M	het unknown	0.457	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-DQA1-C34Y	het unknown	0.547	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-DQA1-Q57E	homozygous	0.203	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-DQA1-E73L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-DQA1-G79R	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-DQA1-G84F	het unknown	0.122	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-DQA1-A92L	het unknown	0.151	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-DQA1-Q152H	het unknown	0.526	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-DQA1-Q198E	het unknown	0.362	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-DQA1-M230V	homozygous	0.782	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	OR2Y1-V200L	het unknown	0.913	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.784 (possibly damaging)
0.5	OR2Y1-V154M	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	OR2Y1-R128C	het unknown	0.013	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	SGCD-R96Q	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	UNC5CL-P499R	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	KCNMB1-E65K	het unknown	0.086	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	HSP90AB1-R604Q	het unknown	0.020	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.888 (probably damaging)
0.5	HSPA1L-E602K	het unknown	0.225	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign)
0.5	HSPA1L-T493M	homozygous	0.868	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign)
0.5	TUBB2B-S413N	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TUBB2B-E412T	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
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-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	ABCB1-S893A	homozygous	0.625	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
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	RP1-N985Y	homozygous	0.206	Unknown benign	Low clinical importance, uncertain	Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.
0.5	RP1-C2033Y	homozygous	0.186	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.5	PEX2-C184R	homozygous	0.990	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CNGB3-I307V	het unknown	0.062	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	CNGB3-T298P	het unknown	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	FGL1-Y140F	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	FGL1-P105L	het unknown	0.158	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.005 (benign)
0.5	FGL1-I72V	het unknown	0.400	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.003 (benign)
0.5	FGL1-T15I	homozygous	0.696	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
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	het unknown	0.659	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.986 (probably damaging)
0.5	METTL2B-V68I	het unknown	0.103	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	METTL2B-V266I	homozygous	0.923	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	METTL2B-R302Q	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	ATP6V0A4-M580T	het unknown	0.125	Recessive pathogenic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ATP6V0A4-V2A	homozygous	0.680	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	MCPH1-R171S	homozygous	0.865	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MCPH1-D314H	homozygous	0.648	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5	MCPH1-D392G	homozygous	0.979	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MCPH1-A761V	het unknown	0.504	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MCPH1-P828S	het unknown	0.241	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NBN-E185Q	homozygous	0.338	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	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	ABCA1-L1648V	het unknown	0.043	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
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-R219K	het unknown	0.498	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests
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	het unknown	0.405	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DFNB31-H752Q	homozygous	0.983	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DFNB31-P676R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DFNB31-M613T	het unknown	0.487	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DFNB31-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	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	NOL8-K165R	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.98 (probably damaging)
0.5	ROR2-V819I	homozygous	0.798	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ROR2-T245A	homozygous	0.619	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GSDMC-M475T	homozygous	0.740	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	GSDMC-P23S	het unknown	0.026	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	RECQL4-R1005Q	het unknown	0.258	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	RECQL4-R766Shift	homozygous	0.278	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Frameshift, Testable gene in GeneTests with associated GeneReview
0.5	RECQL4-E267D	het unknown	0.471	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	RECQL4-S92P	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PLEKHG5-G866S	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5	PLEKHG5-M496V	het unknown	0.034	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.795 (possibly damaging), Testable gene in GeneTests
0.5	PLEKHG5-T294S	het unknown	0.267	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	KIF24-W218L	het unknown	0.050	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	TSC22D4-R384W	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.995 (probably damaging)
0.5	CYP3A7-R409T	homozygous	0.669	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
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	SHPRH-S969C	het unknown	0.017	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.871 (probably damaging)
0.5	SYNE1-G8323A	het unknown	0.310	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5	SYNE1-F7302V	homozygous	0.991	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SYNE1-T6822S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SYNE1-L5015M	homozygous	0.866	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SYNE1-S4596T	homozygous	0.800	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SYNE1-K4121R	homozygous	0.835	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SYNE1-E4060D	homozygous	0.539	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5	SYNE1-A2795V	het unknown	0.260	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	SYNE1-V1035A	het unknown	0.632	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	EYA4-G277S	homozygous	0.467	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging), 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-R167Q	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.983 (probably damaging)
0.5	LCA5-G656D	homozygous	0.377	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LCA5-L24S	homozygous	0.904	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	UBE2CBP-S381Y	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (probably damaging)
0.5	RSPH4A-R556H	homozygous	0.203	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	RSPH4A-L589P	homozygous	0.707	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SOD2-V16A	homozygous	0.362	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	PARK2-V380L	homozygous	0.169	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SLC22A4-I306T	homozygous	0.588	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	SLC22A4-L503F	het unknown	0.142	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	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	COL1A2-P549A	homozygous	0.907	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	EGFR-R521K	het unknown	0.259	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CCM2-V120I	het unknown	0.091	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	AK125766-R117H	homozygous	0.133	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AK125766-V114I	homozygous	0.094	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AK125766-R20*	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	DNAH11-E34L	het unknown	0.335	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-T1038A	het unknown	0.747	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-N2641S	het unknown	0.367	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-R3004Q	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 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-R3587H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-M4172V	het unknown	0.334	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-T4177I	het unknown	0.359	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NFE2L3-E230G	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.995 (probably damaging)
0.5	GLI3-T183A	homozygous	0.663	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CPN2-Q509W	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	FBN2-S2580L	het unknown	0.091	Dominant benign	Low clinical importance, uncertain	Probably benign -- initially associated with congenital contractual arachnodactyly, but later reports classify it as a nonpathogenic polymorphism.
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	FBN2-P326S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	C2orf71-S1225SS	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	C2orf71-T580M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	C2orf71-K421R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
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	MCEE-A76V	homozygous	0.177	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-H1923R	het unknown	0.022	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	APOB-Y1422C	homozygous	0.994	Unknown benign	Low clinical importance, uncertain	This position is almost certainly an error in the HG18 reference sequence.
0.5	APOB-A618V	homozygous	0.494	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SCCPDH-G418R	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.943 (probably damaging)
0.5	EPHX1-Y113H	het unknown	0.290	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.997 (probably damaging)
0.5	KCNK1-R171H	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.993 (probably damaging)
0.5	MTR-R52Q	het unknown	0.002	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5	RYR2-S1400G	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview
0.5	RYR2-Q2958R	het unknown	0.133	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-R392C	het unknown	0.409	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-V671G	homozygous	0.857	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-G1414A	het unknown	0.328	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-I1875V	het unknown	0.405	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-S2111R	het unknown	0.327	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-R2284P	het unknown	0.328	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-R2826S	het unknown	0.404	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-N2856S	het unknown	0.372	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	DNAH6-V141M	het unknown	0.942	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	DNAH6-R1331H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	DNAH6-G1694A	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.026 (benign)
0.5	DNAH6-V2898I	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.931 (probably damaging)
0.5	ITGA6-A380T	homozygous	0.253	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	CASP10-L522I	homozygous	0.309	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LRP2-I4210L	het unknown	0.462	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.993 (probably damaging)
0.5	LRP2-K4094E	het unknown	0.744	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	LRP2-A2872T	het unknown	0.327	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LRP2-T2811A	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	LRP2-N2632D	het unknown	0.024	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.168 (benign)
0.5	LRP2-G669D	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.995 (probably damaging)
0.5	LRP2-N83S	het unknown	0.306	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
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	MRPS5-S386P	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.983 (probably damaging)
0.5	VWA3B-E372*	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	VWA3B-L677V	het unknown	0.700	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	VWA3B-R1245K	homozygous	0.985	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
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	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-D5573N	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 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-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	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-G2211V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	USH2A-I2106T	het unknown	0.629	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	USH2A-R1486K	homozygous	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-D644V	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview
0.5	USH2A-A125T	homozygous	0.777	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	RNPEP-K260N	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.978 (probably damaging)
0.5	CPT2-V368I	homozygous	0.477	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CPT2-M647V	het unknown	0.093	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	LRP8-R952Q	het unknown	0.130	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	LRP8-D46E	het unknown	0.621	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FAM151A-A416V	homozygous	0.261	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	FAM151A-P335Shift	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	AKR1A1-N52S	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.987 (probably damaging)
0.5	COL9A2-Q326R	homozygous	0.403	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HSPG2-I3264V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HSPG2-I2038M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HSPG2-A1503V	homozygous	0.777	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HSPG2-N765S	homozygous	0.896	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HSPG2-M638V	homozygous	0.978	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	FAM46B-H416R	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.968 (probably damaging)
0.5	EPB41-V214I	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.899 (probably damaging)
0.5	TMEM54-L110F	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.926 (probably damaging)
0.5	LEPR-K109R	homozygous	0.332	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.5	LEPR-Q223R	homozygous	0.569	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.5	DPYD-V732I	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.905 (probably damaging), Testable gene in GeneTests
0.5	DPYD-I543V	het unknown	0.199	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	DPYD-R29C	het unknown	0.731	Complex/Other pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	NDUFS2-P20T	het unknown	0.095	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5	NDUFS2-P352A	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5	F5-M1764V	het unknown	0.273	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	F5-K925E	het unknown	0.196	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	F5-H865R	het unknown	0.238	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	F5-K858R	het unknown	0.239	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	F5-Q534R	het unknown	0.991	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	KIAA1614-L64P	homozygous	0.981	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	KIAA1614-R301C	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	KIAA1614-S326F	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.689 (possibly damaging)
0.5	KIAA1614-N1078D	homozygous	0.985	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
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	PVRL4-P104T	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	LMNA-L15P	homozygous	0.227	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LMNA-M174T	homozygous	0.289	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 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	COL11A1-S1547P	homozygous	0.752	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL11A1-P1335L	het unknown	0.479	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL11A1-P986Q	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SEC22B-D70Y	het unknown	0.003	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	SEC22B-T81K	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SEC22B-R107Q	het unknown	0.002	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	SEC22B-C129R	het unknown	0.085	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SEC22B-R131*	het unknown	0.019	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	SEC22B-H189R	het unknown	0.508	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FLG-R3738H	het unknown	0.134	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.278 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	FLG-V3179G	het unknown	0.339	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	FLG-Q2574E	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-G2545R	het unknown	0.292	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5	FLG-H2507Q	het unknown	0.318	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5	FLG-L2481S	het unknown	0.222	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5	FLG-K2444E	het unknown	0.188	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5	FLG-E2398Q	het unknown	0.144	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	FLG-S2366T	het unknown	0.125	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.967 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	FLG-L2224Q	het unknown	0.028	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-Y2194H	het unknown	0.522	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-Y2119H	het unknown	0.119	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-A2108V	het unknown	0.121	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-H1961Q	het unknown	0.418	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-R1891Q	het unknown	0.061	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-A1805V	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-R1699C	het unknown	0.428	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-R1684H	het unknown	0.190	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-S1482Y	het unknown	0.243	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-R1376G	het unknown	0.170	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-R1360H	het unknown	0.164	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-A1167G	het unknown	0.425	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-E755K	het unknown	0.155	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FLG-P478S	het unknown	0.318	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	FLG-G444R	het unknown	0.319	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	FLG-G332V	het unknown	0.227	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	CASP8-K14R	homozygous	0.640	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CASP8-D344H	het unknown	0.041	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ALS2-V368M	homozygous	0.869	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ZCCHC4-D72H	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.953 (probably damaging)
0.5	ZCCHC4-L396H	homozygous	0.868	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	UGT2B15-K523T	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	UGT2B15-Y85D	homozygous	0.500	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	UGT2A3-A497T	homozygous	0.627	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.418 (possibly damaging)
0.5	UGT2A3-F494V	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	CC2D2A-E229Del	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	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-E2643Del	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 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	CLDN16-R55Shift	homozygous	0.172	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift, Testable gene in GeneTests
0.5	KIAA0226-T709M	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.947 (probably damaging)
0.5	IDUA-H33Q	homozygous	0.750	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5	POLN-Q121H	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.992 (probably damaging)
0.5	RG9MTD2-R69H	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.995 (probably damaging)
0.5	MTTP-I128T	het unknown	0.250	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	MTTP-H297Q	homozygous	0.636	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	MTTP-G661S	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
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	VCAN-S300L	het unknown	0.080	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.111 (benign), Testable gene in GeneTests with associated GeneReview
0.5	VCAN-I508N	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	VCAN-K1516R	homozygous	0.480	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	VCAN-R1826H	homozygous	0.349	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5	VCAN-F2301Y	homozygous	0.462	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	VCAN-D2937Y	homozygous	0.352	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5	GPR98-L1093F	het unknown	0.835	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GPR98-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-N1985D	het unknown	0.259	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5	GPR98-L2004F	het unknown	0.341	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.841 (possibly damaging), 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-G3248D	het unknown	0.232	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	GPR98-E3471K	het unknown	0.834	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GPR98-E5344G	homozygous	0.903	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5	GPR98-V5427M	homozygous	0.918	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	APC-V1822D	homozygous	0.887	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-T244I	het unknown	0.150	Unknown protective	Low clinical importance, likely	The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000).
0.5	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-T4220A	het unknown	0.178	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.959 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	DNAH5-A4134V	het unknown	0.450	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH5-L2862F	het unknown	0.212	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5	DNAH5-I766L	homozygous	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-H12Q	homozygous	0.896	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CFI-T300A	homozygous	0.957	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CLGN-P270S	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.989 (probably damaging)
0.5	DCHS2-S2117A	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.963 (probably damaging)
0.5	DCHS2-V2007Shift	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	DCHS2-S1205L	het unknown	0.238	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.993 (probably damaging)
0.5	DCHS2-N897S	homozygous	0.832	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.003 (benign)
0.5	DCHS2-P870L	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.003 (benign)
0.5	DCHS2-S344L	homozygous	0.972	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	DCHS2-H174R	het unknown	0.446	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.317 (possibly damaging)
0.5	DCHS2-V153A	het unknown	0.317	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.227 (possibly damaging)
0.5	TLR3-L412F	het unknown	0.200	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.991 (probably damaging)
0.5	CCDC39-T182S	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.98 (probably damaging)
0.5	CASR-R990G	het unknown	0.199	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests
0.5	CASR-E1011Q	homozygous	0.916	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	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	het unknown	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	COL4A3-G43R	het unknown	0.239	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A3-L141P	homozygous	0.760	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A3-E162G	homozygous	0.764	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A3-D326Y	het unknown	0.203	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TRPM8-R247T	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.926 (probably damaging)
0.5	TRPM8-Y251C	het unknown	0.043	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	TRPM8-S419N	het unknown	0.379	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	OBSL1-R1767Q	homozygous	0.491	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	STK36-K295R	het unknown	0.217	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.019 (benign)
0.5	STK36-R477W	het unknown	0.043	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	STK36-R583Q	homozygous	0.474	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.892 (probably damaging)
0.5	STK36-G1003D	het unknown	0.167	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.061 (benign)
0.5	STK36-R1112Q	het unknown	0.085	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.124 (benign)
0.5	CTLA4-T17A	homozygous	0.463	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign)
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	ABCA12-V542A	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	CXCR1-R335C	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	CXCR1-M31R	het unknown	0.049	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	SLC11A1-D543N	het unknown	0.076	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.011 (benign)
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	PER2-V903I	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.884 (probably damaging)
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-T113Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
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	STXBP5L-M1064I	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.993 (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	COL7A1-R2791W	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL7A1-R1379C	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL7A1-P1277L	het unknown	0.047	Unknown benign	Low clinical importance, uncertain	Polymorphism, presumed benign.
0.5	XPC-Q939K	het unknown	0.683	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	XPC-A499V	het unknown	0.188	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	XPC-R492H	het unknown	0.026	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BTD-I68V	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5	SLC6A20-T199M	het unknown	0.037	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	CCR5-S185Shift	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	DOCK8-P97T	homozygous	0.512	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5	NR_028064-G139Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	NR_028064-H49Q	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	NQO1-P187S	het unknown	0.283	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.215 (possibly damaging)
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-A2308V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	HYDIN-E2305G	het unknown	0.347	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.988 (probably damaging)
0.5	HYDIN-R2297G	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.997 (probably damaging)
0.5	HYDIN-Q2241R	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	HYDIN-V2098M	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	HYDIN-R2086C	het unknown	0.500	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.998 (probably damaging)
0.5	HYDIN-R1951Q	het unknown	0.012	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-M15T	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.994 (probably damaging)
0.5	GCSH-S21L	homozygous	0.750	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FHOD1-P533L	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.988 (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	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	PALB2-L337S	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.761 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	SALL1-V1275I	homozygous	0.983	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BBS2-I123V	homozygous	0.251	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BBS2-S70N	homozygous	0.992	Unknown benign	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CYBA-Y72H	het unknown	0.649	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ZNF276-K422Q	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.968 (probably damaging)
0.5	BRCA1-S1634G	het unknown	0.292	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BRCA1-K1183R	het unknown	0.302	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BRCA1-E1038G	het unknown	0.265	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	BRCA1-P871L	het unknown	0.555	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BRCA1-D693N	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5	ETV4-R437C	het unknown	0.010	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	COL1A1-T1075A	homozygous	0.961	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	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	RAI1-G90A	homozygous	0.281	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	RAI1-P165T	homozygous	0.542	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
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	RABEP1-M628I	het unknown	0.032	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.991 (probably damaging)
0.5	PER1-A962P	het unknown	0.709	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.212 (possibly damaging)
0.5	PER1-P859S	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.891 (probably damaging)
0.5	MFSD6L-R486H	homozygous	0.191	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.913 (probably damaging)
0.5	MFSD6L-I339T	homozygous	0.131	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.003 (benign)
0.5	MFSD6L-L85I	het unknown	0.041	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.914 (probably damaging)
0.5	LITAF-I92V	homozygous	0.102	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NDOR1-R30G	het unknown	0.045	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.894 (probably damaging)
0.5	RDH12-R161Q	het unknown	0.076	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.941 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	MLH3-P844L	het unknown	0.298	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5	MLH3-N826D	homozygous	0.981	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GALC-T641A	homozygous	0.892	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GALC-I562T	homozygous	0.446	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5	GALC-R184C	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.746 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	FAM71D-T197Shift	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	SYNE2-M1969T	homozygous	0.637	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5	SYNE2-A2284V	homozygous	0.637	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5	SYNE2-S2359N	homozygous	0.676	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5	SYNE2-A2395T	homozygous	0.835	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SYNE2-S2802G	homozygous	0.864	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5	SYNE2-I2942V	homozygous	0.622	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SYNE2-D3253H	homozygous	0.684	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5	SYNE2-L5186M	het unknown	0.708	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TEP1-I2486M	het unknown	0.373	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TEP1-S1195P	homozygous	0.703	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TEP1-R1055C	homozygous	0.631	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TEP1-N307K	het unknown	0.369	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TEP1-H239R	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TEP1-T137M	het unknown	0.055	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TEP1-S116P	homozygous	0.363	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MYH6-A1130T	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MYH6-V1101A	homozygous	0.422	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	PTGDR-R332Q	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.905 (probably damaging)
0.5	ZFYVE19-R48Shift	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	ZFYVE19-S376A	homozygous	0.814	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	MGA-P628Q	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	MGA-T716S	homozygous	0.780	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MGA-P1523A	het unknown	0.260	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.998 (probably damaging)
0.5	CHRNB4-R349C	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	ADAMTSL3-H146R	het unknown	0.706	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.04 (benign)
0.5	ADAMTSL3-L290V	homozygous	0.833	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ADAMTSL3-V661L	het unknown	0.711	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	ADAMTSL3-T1660I	het unknown	0.106	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	PKD1-I4045V	het unknown	0.250	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKD1-R1340W	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKD1-M1092T	het unknown	0.081	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5	CYP1A1-I462V	het unknown	0.128	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.488 (possibly damaging)
0.5	CYP1A1-T461N	het unknown	0.008	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign)
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	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	SLC28A2-P22L	homozygous	0.248	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SLC28A2-S75R	homozygous	0.253	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	FBN1-C472Y	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NR2E3-T318Shift	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift, Testable gene in GeneTests
0.5	BRIP1-S919P	homozygous	0.652	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SCN4A-N1376D	het unknown	0.604	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	PLAC4-R42Shift	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	COL6A2-A68V	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL6A2-S399N	homozygous	0.727	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL6A2-R680H	het unknown	0.389	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), 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	LAMA5-R3079W	homozygous	0.655	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LAMA5-D2062N	homozygous	0.559	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.551 (possibly damaging)
0.5	LAMA5-R2053H	het unknown	0.094	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.034 (benign)
0.5	LAMA5-V1900M	homozygous	0.674	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LAMA5-F1807S	homozygous	0.895	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LAMA5-K1367E	homozygous	0.912	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LAMA5-M1258T	homozygous	0.807	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LAMA5-T956A	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LAMA5-K812T	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.991 (probably damaging)
0.5	LAMA5-T401A	homozygous	0.868	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.184 (benign)
0.5	ZNF446-P300S	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.552 (possibly damaging)
0.5	ZNF446-P328L	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.961 (probably damaging)
0.5	C20orf54-I303V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	C20orf54-T278M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	C20orf54-P267L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PANK2-G126A	homozygous	0.917	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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	NR_027052-R29H	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	NR_027052-T53Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	NR_027052-Y63N	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	HPS4-Q620H	homozygous	0.806	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	HPS4-H601Y	homozygous	0.807	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HPS4-V547M	homozygous	0.780	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HPS4-E224G	homozygous	0.779	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ARSE-G424S	homozygous	0.543	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5	ATRX-Q929E	homozygous	0.565	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	ASMTL-*622Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	PLCXD1-G305V	het unknown	0.022	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.941 (probably damaging)
0.5	TCN2-R399Q	het unknown	0.077	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests
0.5	TRIOBP-S217N	homozygous	0.413	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.5	TRIOBP-N863K	homozygous	0.342	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5	TRIOBP-F1187L	homozygous	0.320	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.5	TRIOBP-H1300R	homozygous	0.431	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5	TRIOBP-W1377R	homozygous	0.964	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.5	PPARA-L162V	het unknown	0.012	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.013 (benign)
0.5	ARSA-R496H	het unknown	0.048	Unknown benign	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ARSA-T391S	homozygous	0.423	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ARSA-N350S	het unknown	0.241	Unknown benign	Low clinical importance, well-established	This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability.
0.5	NLRP12-F402L	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests
0.5	ZNF880-N106Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	ZNF880-N140NN	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	ZNF880-R198S	het unknown	0.354	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ZNF880-N202H	het unknown	0.292	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ZNF880-C413F	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	ZNF880-K471R	het unknown	0.328	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
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	ATP8B1-R952Q	het unknown	0.052	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	CD226-S307G	het unknown	0.423	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	ZNF77-Q100*	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	SLC14A2-I132V	homozygous	0.887	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SLC14A2-R510Q	het unknown	0.329	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SLC14A2-A880T	homozygous	0.443	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	SLC14A2-R896H	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.996 (probably damaging)
0.5	LAMA3-P17G	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 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	COG1-N392S	homozygous	0.536	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	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-K347N	het unknown	0.430	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	TSEN54-A437V	het unknown	0.515	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), 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	RNF157-G208R	het unknown	0.027	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.859 (probably damaging)
0.5	ZNF750-P288L	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.984 (probably damaging)
0.5	ZNF750-M235V	het unknown	0.107	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.01 (benign)
0.5	MPND-P423L	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	MCOLN1-T261M	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.06 (benign), 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-V882A	het unknown	0.493	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5	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
0.5	SIX5-L556V	homozygous	0.833	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FPR1-E346A	homozygous	0.800	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FPR1-V101L	homozygous	0.336	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FPR1-I11T	homozygous	0.831	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	LSR-R519RR	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	LSR-E645Q	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.877 (probably damaging)
0.5	PGLYRP2-R476W	het unknown	0.003	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	PGLYRP2-M270K	het unknown	0.399	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.2 (possibly damaging)
0.5	PGLYRP2-R99Q	het unknown	0.364	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	PGLYRP2-T46A	het unknown	0.366	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	STXBP2-I526V	homozygous	0.725	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ADAMTS10-H1101Q	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	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	CCDC130-S22C	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.994 (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	ALG1-S267N	het unknown	0.053	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	KRT83-H493Y	het unknown	0.791	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	KRT83-I279M	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	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	GSTP1-I105V	homozygous	0.338	Recessive pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
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	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	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	HPS5-T1098I	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.24 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	SLC6A5-F124S	het unknown	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	SLC6A5-K457N	het unknown	0.065	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.051 (benign), Testable gene in GeneTests with associated GeneReview
0.5	SLC6A5-D463N	homozygous	0.177	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview
0.5	TRPC6-A404V	het unknown	0.099	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests
0.5	DYNC2H1-Q304L	het unknown	0.005	Unknown benign	Low clinical importance, uncertain	Presumed benign.
0.5	DYNC2H1-H341Y	het unknown	0.079	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests
0.5	DYNC2H1-T1288A	het unknown	0.081	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.149 (benign), Testable gene in GeneTests
0.5	DYNC2H1-N1576K	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	DYNC2H1-R2871Q	het unknown	0.705	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	DYNC2H1-A3687V	het unknown	0.292	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 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-S1647T	het unknown	0.294	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LRRK2-M2397T	homozygous	0.526	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	KRT81-R316C	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5	KRT81-L248R	homozygous	0.935	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	KRT81-G52R	het unknown	0.191	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.735 (possibly damaging), Testable gene in GeneTests
0.5	SLCO1B3-S112A	homozygous	0.646	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	SLCO1B3-M233I	homozygous	0.659	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.131 (benign)
0.5	A2ML1-D850E	homozygous	0.974	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	A2ML1-R1122W	het unknown	0.408	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	A2ML1-A1226Shift	het unknown	0.009	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	A2ML1-H1229R	homozygous	0.949	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	A2ML1-M1257V	homozygous	0.803	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
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	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	VWF-T1381A	homozygous	0.754	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-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	ABCC8-A1369S	homozygous	0.755	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SMPD1-V36A	het unknown	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SMPD1-AL48Del	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CHAT-A120T	het unknown	0.149	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5	CHAT-V461M	homozygous	0.927	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	UNC5B-I242V	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.97 (probably damaging)
0.5	PPYR1-A99S	het unknown	0.244	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.03 (benign)
0.5	PPYR1-R240C	het unknown	0.220	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.332 (possibly damaging)
0.5	PPYR1-V276M	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.889 (probably damaging)
0.5	CCDC7-L77Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	EXD3-R653C	het unknown	0.032	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.953 (probably damaging)
0.5	EXD3-E322D	homozygous	0.913	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	EXD3-R220Q	homozygous	0.937	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	EXD3-A160T	homozygous	0.868	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	EXD3-R20Q	het unknown	0.677	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	DCLRE1C-L329M	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.842 (possibly damaging), Testable gene in GeneTests
0.5	DCLRE1C-H243R	het unknown	0.099	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.767 (possibly damaging), Testable gene in GeneTests
0.5	MYO3A-R319H	homozygous	0.376	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	MYO3A-I348V	homozygous	0.678	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	MYO3A-V369I	homozygous	0.642	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	MYO3A-A833S	het unknown	0.049	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5	MYO3A-S956N	homozygous	0.443	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	MYO3A-T1284S	homozygous	0.406	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5	MYO3A-R1313S	homozygous	0.620	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CDH23-N1349D	homozygous	0.772	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-A1572T	homozygous	0.720	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-T1996S	het unknown	0.248	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-E2041K	het unknown	0.344	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-V2280I	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-R2355Q	het unknown	0.349	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-P2377L	het unknown	0.338	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ANXA11-R230C	het unknown	0.382	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	KNDC1-R46W	het unknown	0.009	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.928 (probably damaging)
0.5	KNDC1-A128S	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.076 (benign)
0.5	KNDC1-S155G	het unknown	0.026	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	KNDC1-R156Q	het unknown	0.024	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	KNDC1-E436G	het unknown	0.378	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	KNDC1-C603Y	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.986 (probably damaging)
0.5	KNDC1-L717P	homozygous	0.549	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	KNDC1-V806D	het unknown	0.360	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.007 (benign)
0.5	H19-G355R	homozygous	0.359	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	H19-V94I	homozygous	0.361	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	H19-W38R	homozygous	0.342	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TH-V108M	homozygous	0.416	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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	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	AVPI1-A41G	het unknown	0.486	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AVPI1-L36R	het unknown	0.024	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.924 (probably damaging)
0.5	PPRC1-H1356Q	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	PPRC1-R1357S	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.972 (probably damaging)
0.5	AX746750-S137Shift	het unknown	0.010	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	MYO7A-L16S	het unknown	0.550	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MYO7A-S1666C	het unknown	0.610	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MYO7A-L1954I	homozygous	0.552	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ITGA7-R279H	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	MPHOSPH8-D460Y	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.983 (probably damaging)
0.5	COL4A1-T555P	homozygous	0.994	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	KRT6C-V481I	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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	het unknown	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
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	HNF1A-I27L	het unknown	0.311	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HNF1A-S487N	het unknown	0.301	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	HNF1A-S574G	homozygous	0.976	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SH2B3-W262R	het unknown	0.768	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	HTR2A-H452Y	het unknown	0.098	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.489 (possibly damaging)
0.375	OTOF-F303L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	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
0.375	SHANK3-I245T	het unknown	0.357	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	SHANK3-V1587G	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	CLCN1-G118W	het unknown	0.995	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	CLCN1-YD686CY	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	CLCN1-P727L	het unknown	0.325	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	HADH-L86P	het unknown	0.859	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375	HADH-Q152H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CHRNA2-T125A	het unknown	0.644	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ZNF224-M118V	het unknown	0.793	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	ZNF224-H162L	het unknown	0.780	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging)
0.25	ZNF224-K640E	het unknown	0.593	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SFTPC-T138N	het unknown	0.172	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SFTPC-S186N	het unknown	0.222	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CFHR1-H157Y	het unknown	0.169	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	NPHS1-N1077S	het unknown	0.132	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25	NPHS1-E117K	het unknown	0.297	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25	TLR5-F822L	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	TLR5-F616L	het unknown	0.263	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.011 (benign)
0.25	TLR5-N592S	het unknown	0.211	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.25	DMPK-L423V	het unknown	0.121	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	KIF6-W719R	het unknown	0.538	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.01 (benign)
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	ELL-S297N	het unknown	0.082	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	ELL-Q296Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	ELL-A74V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	TPO-A257S	het unknown	0.387	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	TPO-A373S	het unknown	0.188	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25	TPO-S398T	het unknown	0.684	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.25	TPO-T725P	het unknown	0.524	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	TPO-V847A	het unknown	0.674	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25	MOGS-P293S	het unknown	0.619	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	MOGS-D239N	het unknown	0.561	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
0.25	C8orf49-G26R	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C8orf49-I81V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C8orf49-C194*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
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	DL492456-R148H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	DL492456-Y109C	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	DL492456-W104*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	PLA2G7-V379A	homozygous	0.721	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.816 (possibly damaging)
0.25	PLA2G7-I198T	het unknown	0.162	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign)
0.25	PLA2G7-R92H	het unknown	0.252	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	AK304151-S34L	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	AK304151-F47L	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
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	OR7E24-F11Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	OR7E24-P242S	het unknown	0.573	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	TCOF1-P1139R	het unknown	0.211	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CFH-H402Y	het unknown	0.818	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CFH-E936D	het unknown	0.209	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.504 (possibly damaging), 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	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	ATXN3-V212M	het unknown	0.358	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	COL11A2-E276K	het unknown	0.320	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	TSEN15-G19D	het unknown	0.295	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.932 (probably damaging)
0.25	TSEN15-Q59H	het unknown	0.283	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.961 (probably damaging)
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	C13orf40-R6075C	homozygous		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-G4893S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-V3805I	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-T3015I	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-T2812P	het unknown		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	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-A1822P	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C13orf40-N1704H	het unknown		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	het unknown		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	PNPLA3-I148M	het unknown	0.268	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.778 (possibly damaging)
0.25	PNPLA3-K434E	homozygous	0.801	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	EP300-I997V	het unknown	0.176	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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	RPGRIP1-K192E	het unknown	0.446	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	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.
0.25	RPGRIP1-E1033Q	het unknown	0.256	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	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	CDSN-N527D	homozygous	0.849	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	CDSN-L410S	het unknown	0.699	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	CDSN-S408A	het unknown	0.162	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	CDSN-S153Del	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	CDSN-M18L	het unknown	0.298	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SETX-T1855A	het unknown	0.508	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SETX-I1386V	het unknown	0.494	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SETX-G1252R	het unknown	0.494	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SETX-D1192E	het unknown	0.598	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CROCC-R7G	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	CROCC-A439V	het unknown	0.342	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.25	CROCC-P511S	het unknown	0.904	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.94 (probably damaging)
0.25	CROCC-D586H	het unknown	0.270	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.991 (probably damaging)
0.25	CROCC-S2012Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	CDA-K27Q	het unknown	0.190	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	PINK1-N521T	het unknown	0.289	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	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	SLC34A3-G264S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	SLC34A3-E513V	homozygous	0.915	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
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	ERCC6-G399D	het unknown	0.246	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	HLA-DQB1-V235I	het unknown	0.544	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	HLA-DQB1-A172T	het unknown	0.342	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	HLA-DQB1-G157A	het unknown	0.539	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	HLA-DQB1-G157S	het unknown	0.140	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	HLA-DQB1-V148I	het unknown	0.140	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	HLA-DQB1-L28S	het unknown	0.375	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	HLA-DQB1-L28S	het unknown	0.375	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	HLA-DQB1-S27T	het unknown	0.206	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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	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	FMO3-E158K	het unknown	0.374	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	FMO3-E308G	het unknown	0.104	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview
0.25	SIX6-H141N	het unknown	0.314	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25	ALX4-P102S	het unknown	0.217	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ALX4-R35T	het unknown	0.393	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25	ARHGAP30-A644Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	ARHGAP30-L591V	het unknown	0.385	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.011 (benign)
0.25	ITLN2-Y303*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	ITLN2-R103H	het unknown	0.492	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.25	COL6A1-S890L	het unknown	0.203	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	GPT-H14N	het unknown	0.363	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	SDR39U1-Q270R	het unknown	0.755	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SDR39U1-L232F	het unknown	0.735	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SDR39U1-G181Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	SDR39U1-I79L	het unknown	0.755	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	TG-S734A	het unknown	0.698	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	TG-M1028V	het unknown	0.696	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25	TG-D1312G	het unknown	0.344	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	TG-D1838N	het unknown	0.304	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.25	TG-W2501R	het unknown	0.566	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.25	TG-R2530Q	het unknown	0.586	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25	CBR3-C4Y	het unknown	0.391	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.002 (benign)
0.25	NR_002144-DDDFE68Del	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	NR_002144-SE75P	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	NR_002144-L77Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	NR_002144-Q280R	homozygous	0.858	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	NR_002144-Y307H	homozygous	0.858	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	NR_002144-L312R	homozygous	0.856	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	GARS-P42A	het unknown	0.654	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, 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	RFWD3-T90N	homozygous	0.789	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	RFWD3-Q71Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	PMS2-K541E	het unknown	0.904	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	PMS2-P470S	het unknown		Unknown benign	Low clinical importance, likely	Benign, common variant.
0.25	KRT5-D197E	het unknown	0.276	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.25	MAP1B-I594V	homozygous	0.932	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MAP1B-D983Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	EIF2B5-I587V	het unknown	0.370	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25	VWDE-F1485C	homozygous	0.734	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	VWDE-K1273Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	VWDE-Q1256K	het unknown	0.720	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	VWDE-T1032M	het unknown	0.773	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	VWDE-S607F	het unknown	0.748	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	VWDE-G340D	het unknown	0.845	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	VWDE-F292I	het unknown	0.615	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	VWDE-S142F	homozygous	0.722	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DRD3-G9S	het unknown	0.482	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SNX19-L878R	het unknown	0.808	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SNX19-N753S	het unknown	0.617	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SNX19-L618F	homozygous	0.994	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SNX19-V361L	het unknown	0.671	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DAPL1-L60P	het unknown	0.583	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.127 (benign)
0.25	DAPL1-A66T	het unknown	0.110	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DAPL1-R105*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	AHR-R554K	het unknown	0.315	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	CPOX-V294I	het unknown	0.103	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25	CPOX-M131V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	MYH15-T1125A	het unknown	0.180	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.007 (benign)
0.25	MYH15-H504Y	homozygous	0.578	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.997 (probably damaging)
0.25	MYH15-R454Q	het unknown	0.107	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.999 (probably damaging)
0.25	LRRC50-K393R	het unknown	0.321	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	LRRC50-P502L	het unknown	0.272	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.25	LRRC50-L633S	het unknown	0.261	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	LRRC50-L659V	het unknown	0.112	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25	LRRC50-L659P	het unknown	0.352	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	LRRC50-S675T	het unknown	0.363	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25	SLC22A2-S270A	het unknown	0.876	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	GPR56-S281R	het unknown	0.750	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	FAM186A-R2174*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	FAM186A-H2166Y	homozygous	0.606	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	FAM186A-A1720S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	FAM186A-L1233P	homozygous	0.633	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	FAM186A-A465G	homozygous	0.985	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	FAM186A-K463T	homozygous	0.985	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	FAM186A-K187Q	homozygous	0.606	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	TLR6-S249P	het unknown	0.855	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	UGT2B7-Y268H	het unknown	0.727	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	FIG4-M364L	het unknown	0.101	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.011 (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	BBS12-R386Q	het unknown	0.515	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.25	FANCI-A86V	het unknown	0.219	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	FANCI-C742S	het unknown	0.234	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	BBS4-I354T	het unknown	0.399	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	IL4R-E400A	het unknown	0.270	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.578 (possibly damaging)
0.25	IL4R-C431R	het unknown	0.085	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.999 (probably damaging)
0.25	IL4R-S503P	het unknown	0.244	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.743 (possibly damaging)
0.25	IL4R-Q576R	het unknown	0.405	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.25	C12orf60-K65R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C12orf60-N103K	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C12orf60-M184Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
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	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	CD19-R514H	het unknown	0.035	Unknown benign	Low clinical importance, uncertain	Presumed benign.
0.25	DOK7-G461D	het unknown	0.128	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.565 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	WFS1-V333I	het unknown	0.889	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	WFS1-R611H	het unknown	0.442	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25	EVC-Y258H	het unknown	0.721	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.25	EVC-T449K	het unknown	0.871	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	EVC-R576Q	het unknown	0.274	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.25	ALG9-V289I	het unknown	0.332	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
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	CDAN1-R891C	het unknown	0.246	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25	CDAN1-Q596R	het unknown	0.498	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CFTR-V470M	het unknown	0.621	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	GAA-H199R	het unknown	0.574	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	GAA-R223H	het unknown	0.606	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	GAA-V780I	het unknown	0.720	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CPS1-T344A	het unknown	0.583	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	CPS1-T1406N	het unknown	0.263	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-C911S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	NLRP1-L155H	het unknown	0.120	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.064 (benign)
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	MMAB-R19Q	het unknown	0.283	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	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	AOX1-Q966*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	AOX1-H1297R	het unknown	0.054	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
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	SLC28A1-V189I	het unknown	0.313	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SLC28A1-Q237K	het unknown	0.241	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 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	SLC35C1-I227V	het unknown	0.156	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	DSG2-R773K	het unknown	0.221	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25	FRZB-R324G	het unknown	0.103	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.993 (probably damaging)
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-R532H	het unknown	0.238	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	UNC13D-K867E	het unknown	0.596	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	DNAI2-V495I	het unknown	0.258	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	DNAI2-A558T	het unknown	0.674	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	KRT13-T298A	homozygous	0.835	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	KRT13-A187V	homozygous	0.715	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	KRT13-T170S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
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	TXNDC3-C208R	het unknown	0.740	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TXNDC3-I493T	het unknown	0.289	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.25	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	GUCY2D-L782H	het unknown	0.165	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	BBS9-A455T	het unknown	0.135	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	FANCD2-P714L	het unknown	0.246	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SPG11-F463S	het unknown	0.470	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	GLI1-G933D	het unknown	0.380	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.916 (probably damaging)
0.25	GLI1-P996Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	GLI1-E1100Q	homozygous	0.586	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	GPANK1-A111Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	GPANK1-R41L	het unknown	0.150	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.999 (probably damaging)
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	XYLT2-T801R	het unknown	0.225	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
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	ATG16L1-T300A	het unknown	0.347	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0	MEFV-R202Q	het unknown	0.111	Recessive pathogenic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
0	HFE-H63D	het unknown	0.086	Recessive pathogenic	Low clinical importance, uncertain	There have been some hypotheses that this variant contributes to causing hereditary hemachromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles.

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,774,466,182 bases (97.1% of callable positions, 90.1% of total positions)

Coding region coverage: 32,561,420 bases (97.8% of all genes, 98.6% of genes with clinical testing available)

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

huA90CE6 - GET-Evidence variant report

Variant report for huA90CE6

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