Variant report for hu342A08

Data source: CGI sample GS01175-DNA_B05 from PGP sample 83494370
This report: evidence.pgp-hms.org/genomes?54eeff493bbbf0a21691ff7ea5fd9e4ae7480152
Person ID: hu342A08
public profile: my.pgp-hms.org/profile/hu342A08
Download: source data, dbSNP and nsSNP report (126 MB)
Processing status:
processing
Show debugging info

Log file:

Genome report
Insufficiently evaluated variants
Coverage
Gene Report
Metadata

Show likely pathogenic and rare (<2.5%) pathogenic variants Show all

Row number	Variant	Clinical Importance	Evidence	Impact	Allele freq	Summary	Sufficient
1	ABCA4-G863A	High	Well-established	Well-established pathogenic Recessive, Carrier (Heterozygous)	0.00492657	Various publications report this variant causes Stargardt Disease in a recessive manner, when combined with another more severe variant. Stargardt disease causes progressive vision loss and blindness.	1
2	COL9A3-R103W	Moderate	Likely	Likely pathogenic Dominant, Heterozygous	0.0480573	Carriers of this collagen variant are associated with having a significantly increased risk of lumbar disc disease (~11% total risk compared to a typical risk of 4%).	1
3	WFS1-C426Y	Moderate	Uncertain	Uncertain pathogenic Dominant, Heterozygous	0.0012084	Reported in a single case of familial depression, but no linkage data and no statistical significance.	1
4	CFTR-S1235R	Moderate	Uncertain	Uncertain pathogenic Recessive, Carrier (Heterozygous)	0.00529838	Reported to cause mild dysfunction of the cystic fibrosis gene, it may result in cystic fibrosis when combined with more severe variants.	1
5	MEFV-E148Q	Moderate	Uncertain	Uncertain pathogenic Recessive, Carrier (Heterozygous)	0.0120929	Some reports believe this cause Familial Mediterranean Fever in a recessive manner with reduced penetrance (i.e. not all get the disease). However, these reports lack strong statistical significance; other studies argue the variant is not associated with the disease.	1
6	COL4A1-Q1334H	Low	Likely	Likely pathogenic Dominant, Heterozygous	0.324689	This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.	1
7	rs5186	Low	Likely	Likely pathogenic Unknown, Heterozygous	0.214878	This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs.	1
8	TGIF1-P83Shift	Low	Uncertain	Uncertain pathogenic Complex/Other, Heterozygous	0.138889	Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.	1
9	SP110-L425S	Low	Uncertain	Uncertain pathogenic Unknown, Homozygous	0.863357	This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.	1
10	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
11	CLEC7A-Y238X	Low	Uncertain	Uncertain pathogenic Recessive, Carrier (Heterozygous)	0.0632088	This variant has been found to impair homan mucosal antifungal defense and was implicated in vulvovaginal candidiasis and mucocutaneous infections in a Dutch family.	1
12	BRCA2-N372H	Low	Uncertain	Uncertain pathogenic Recessive, Carrier (Heterozygous)	0.23656	This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.	1
13	rs1544410	Low	Uncertain	Uncertain pharmacogenetic Unknown, Homozygous	0.351562	rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon.	1
14	ABCC6-R1268Q	Low	Uncertain	Uncertain pharmacogenetic Unknown, Heterozygous	0.218907	This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.	1
15	FUT2-W154X	Moderate	Well-established	Well-established protective Recessive, Carrier (Heterozygous)	0.490519	This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors.	1
16	PRNP-M129V	Low	Well-established	Well-established protective Complex/Other, Heterozygous	0.339561	This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru.	1
17	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
18	CASP10-V410I	Low	Likely	Likely protective Dominant, Heterozygous	0.0474066	Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average).	1
19	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
20	TOR1A-D216H	Low	Likely	Likely protective Unknown, Heterozygous	0.102993	This SNP has been shown to be benign and play a protective role against Dystonia.	1
21	ABCG5-R50C	Low	Likely	Likely protective Unknown, Heterozygous	0.0684142	This variant has a mild protective effect on blood cholesterol. It is associated with slightly lower total and LDL cholesterol levels.	1
22	LOXL1-R141L	Low	Uncertain	Uncertain benign Complex/Other, Heterozygous	0.255899	Associated with exfoliative glaucoma & syndrome (XFG & XFS) in various populations, but with contradicting results (protective in Caucasians, pathogenic in Japanese). Based on this it seems the variation itself -- although it affects protein structure -- is not itself causing disease. Instead it is likely associated with other nearby causal variants. As such, it is evaluated as benign by GET-Evidence (which focuses on reporting causal variants). See detailed variant report for disease risk associations.	1
23	RNASEH2B-I309Shift	Low	Uncertain	Uncertain benign Unknown, Homozygous	0.0234375	This variant is predicted to be highly disruptive. Although other disruptive variants in this gene are reported to cause Aicardi-Goutieres syndrome in a recessive manner (a rare, fatal childhood disease), those variants were upstream of this position, and this variant is too common to be consistent with causing that disease (2% allele frequency). Based on this, it is tentatively evaluated as benign.	1
24	ENPP1-R774C	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0258412	Tentatively classified as benign. Initially reported as a recessive cause of infantile arterial calcification, but with no statistical significance. Other variants have been implicated as causal in these cases this variant. 5% allele frequency in caucasians contradicts this variant as having any highly pathogenic effect.	1
25	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
26	PTCH1-P1315L	Low	Uncertain	Uncertain benign Unknown, Homozygous	0.29631	Common polymorphism, presumed benign.	1
27	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
28	PCSK9-G670E	Low	Uncertain	Uncertain benign Unknown, Homozygous	0.888269	This variant is likely benign.	1
29	APOB-Y1422C	Low	Uncertain	Uncertain benign Unknown, Homozygous	0.999628	This position is almost certainly an error in the HG18 reference sequence.	1
30	RP1-N985Y	Low	Uncertain	Uncertain benign Unknown, Heterozygous	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
31	ABCA4-R943Q	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.0316044	This is a polymorphism in a gene associated with Stargardt disease. Although it has a slight detectable effect in functional study, it is common in control groups and is not believed to have any significant pathogenic effect.	1
32	TPCN2-G734E	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.286166	Pigmentation allele.	1
33	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
34	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
35	TYR-S192Y	Low	Uncertain	Uncertain benign Unknown, Heterozygous	0.270682	This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3).	1

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

Exome coverage: 32806251 / 33212919 = 98.78%

Row number	Gene	Chromosome	Coverage	Missing	Length	Missing regions
1	AGRN	1	0.95096122515477	301	6138	955553-955616, 955619-955624, 955634-955642, 955658-955660, 976238, 976251-976260, 976661-976695, 981935, 981959-981987, 982024, 983604-983745
2	GABRD	1	0.95658572479765	59	1359	1950863-1950873, 1950875, 1950884-1950930
3	NPHP4	1	0.99976640971736	1	4281	5935153
4	ESPN	1	0.86003898635478	359	2565	6485103-6485108, 6488319-6488336, 6488378-6488392, 6488426-6488432, 6500725-6500798, 6500836-6500868, 6501097-6501103, 6505726-6505738, 6505776-6505820, 6505846-6505894, 6508701-6508705, 6508730-6508766, 6508922-6508928, 6511907-6511942, 6512127-6512133
5	PLEKHG5	1	0.989024772656	35	3189	6534123-6534129, 6534132-6534134, 6534140-6534142, 6534148, 6534152-6534157, 6534164, 6534547-6534555, 6534592, 6557380-6557383
6	KIF1B	1	0.99378881987578	33	5313	10357005, 10357015, 10357021, 10381804-10381805, 10425548-10425558, 10425584-10425600
7	CTRC	1	0.99876084262701	1	807	15770003
8	CLCNKA	1	0.98643410852713	28	2064	16353846-16353852, 16354391-16354397, 16358268-16358274, 16360141-16360147
9	CLCNKB	1	0.99031007751938	20	2064	16373044-16373050, 16383399-16383411
10	ATP13A2	1	0.99774202653119	8	3543	17322611-17322618
11	PINK1	1	0.9971363115693	5	1746	20960194-20960195, 20960197, 20960212, 20960330
12	HSPG2	1	0.99400425015179	79	13176	22181469-22181476, 22199128-22199135, 22263648-22263710
13	WNT4	1	0.92708333333333	77	1056	22469339-22469415
14	SEPN1	1	0.89028776978417	183	1668	26126722-26126904
15	HPCA	1	0.99828178694158	1	582	33359439
16	KCNQ4	1	0.99904214559387	2	2088	41284262-41284263
17	CLDN19	1	0.99555555555556	3	675	43201567-43201569
18	SLC2A1	1	0.99932386747803	1	1479	43395421
19	MPL	1	0.99895178197065	2	1908	43818343, 43818356
20	STIL	1	0.99870700801655	5	3867	47765809, 47765812-47765815
21	DHCR24	1	0.99806576402321	3	1551	55352579, 55352589, 55352599
22	PCSK9	1	0.997113997114	6	2079	55505553-55505558
23	ALG6	1	0.99869281045752	2	1530	63885045-63885046
24	LEPR	1	0.9991423670669	3	3498	66083647-66083648, 66083668
25	CTH	1	0.9991789819376	1	1218	70883626
26	GLMN	1	0.99775910364146	4	1785	92731980-92731981, 92732028, 92732047
27	DPYD	1	0.98927875243665	33	3078	97847949-97847951, 97847997-97848017, 98060683, 98060717-98060722, 98144710, 98144724
28	DBT	1	0.99930986887509	1	1449	100701061
29	COL11A1	1	0.97214586769287	152	5457	103356057, 103363689, 103364222-103364319, 103364497-103364502, 103364533, 103377748, 103405916, 103427756-103427760, 103435775, 103435785-103435793, 103435803-103435828, 103455090, 103488458
30	GSTM1	1	0.98934550989346	7	657	110235885-110235891
31	NOTCH2	1	0.97330097087379	198	7416	120458203, 120539665-120539714, 120539739-120539745, 120539778-120539784, 120539913-120539939, 120547962-120547968, 120548022-120548058, 120548091-120548097, 120572544-120572575, 120611960, 120611964, 120612000-120612020
32	FLG	1	0.94756277695716	639	12186	152276114, 152276149, 152276279-152276285, 152276487-152276493, 152276583, 152276598, 152276616, 152276626-152276628, 152276656-152276674, 152276696-152276729, 152276758-152276785, 152276848, 152276855, 152276865, 152276871, 152276889, 152277011-152277058, 152277081-152277117, 152277345, 152277714-152277720, 152277881-152277887, 152278047-152278049, 152278430-152278437, 152278659-152278692, 152278811-152278817, 152278853-152278879, 152279016-152279031, 152279403-152279409, 152279725-152279750, 152279757-152279784, 152279848, 152280032, 152280170, 152280347, 152280468-152280474, 152280559, 152280573, 152280594-152280617, 152280643-152280652, 152280733-152280762, 152280782, 152280788, 152280900, 152281039, 152281304, 152281479, 152281520-152281537, 152281621-152281649, 152281872-152281914, 152281948, 152281984, 152281991, 152283427-152283433, 152284122-152284155, 152284811-152284817, 152285128, 152285137, 152285185-152285233
33	CHRNB2	1	0.99867461895295	2	1509	154544375-154544376
34	LMNA	1	0.99647266313933	2	567	156105080-156105081
35	LMNA	1	0.99899749373434	2	1995	156105080-156105081
36	SEMA4A	1	0.99868766404199	3	2286	156142691-156142693
37	NTRK1	1	0.99790882475951	5	2391	156830729, 156830753, 156830766-156830768
38	DDR2	1	0.99844236760125	4	2568	162688898-162688901
39	SLC19A2	1	0.99933065595716	1	1494	169438027
40	F5	1	0.99715355805243	19	6675	169510367, 169510380, 169510502, 169510515, 169510524, 169510634-169510640, 169511618-169511624
41	RNASEL	1	0.99640610961366	8	2226	182545478, 182545496-182545501, 182555116
42	HMCN1	1	0.9995268511947	8	16908	186094795-186094802
43	PDC	1	0.94871794871795	38	741	186418540-186418575, 186418590-186418591
44	CFH	1	0.98160173160173	68	3696	196648753-196648756, 196648798, 196648801-196648807, 196658553, 196658665-196658676, 196658683-196658688, 196658719-196658720, 196659356, 196695934, 196706686-196706716, 196706741, 196706759
45	CFHR5	1	0.99824561403509	3	1710	196953114, 196953139-196953140
46	ASPM	1	0.99511213341001	51	10434	197069580, 197069584-197069588, 197069712, 197104304-197104345, 197113160-197113161
47	USH2A	1	0.99654045742841	54	15609	215916519-215916558, 215916563, 215931993-215931999, 215956208, 216369919-216369922, 216496871
48	GJC2	1	0.88181818181818	156	1320	228345663, 228345674, 228345722-228345753, 228345788, 228345888-228345937, 228346037, 228346085, 228346092, 228346106, 228346127, 228346140-228346168, 228346338-228346356, 228346364, 228346367-228346371, 228346378-228346379, 228346387, 228346398-228346401, 228346424, 228346429-228346431, 228346602
49	LYST	1	0.98904085568999	125	11406	235840841, 235875357-235875358, 235875394-235875400, 235875473-235875497, 235897851, 235897866, 235933484, 235944217-235944241, 235944349-235944355, 235950500-235950528, 235950552, 235950596, 235950640, 235950649, 235950653, 235950658, 235950665-235950672, 235967872, 235967948-235967953, 235967964, 235972291, 235972294-235972296
50	MTR	1	0.99973670352817	1	3798	237013644
51	RYR2	1	0.99490069779925	76	14904	237821244-237821295, 237881770, 237881776-237881777, 237881784-237881787, 237969490-237969506
52	FH	1	0.99804305283757	3	1533	241669404-241669406
53	NLRP3	1	0.99357119897139	20	3111	247587314-247587333
54	DCLRE1C	10	0.996632996633	7	2079	14981847-14981853
55	CUBN	10	0.99935614422369	7	10872	17085968-17085970, 17142209-17142212
56	PTF1A	10	0.96555217831814	34	987	23481676, 23481866-23481871, 23481904-23481930
57	PDSS1	10	0.98798076923077	15	1248	26994229, 26994243-26994250, 26994255-26994260
58	MASTL	10	0.99924156238149	2	2637	27448591-27448592
59	RET	10	0.98026905829596	66	3345	43572714-43572779
60	ERCC6	10	0.99977688531905	1	4482	50738776
61	CHAT	10	0.92790387182911	162	2247	50822275-50822436
62	PCDH15	10	0.99354729156054	38	5889	55587204, 55587209-55587211, 55826548, 55973733-55973746, 56128952, 56128976, 56138665-56138668, 56138701, 56287572-56287583
63	PRF1	10	0.99700239808153	5	1668	72358459-72358463
64	CDH23	10	0.99930389817025	7	10056	73537535-73537541
65	LDB3	10	0.99496336996337	11	2184	88441376-88441383, 88476084, 88476171, 88476179
66	HPS1	10	0.99240265906933	16	2106	100187000-100187015
67	PAX2	10	0.99846035411855	2	1299	102566308-102566309
68	HPS6	10	0.99742268041237	6	2328	103827019-103827024
69	SUFU	10	0.9979381443299	3	1455	104263974, 104263979-104263980
70	COL17A1	10	0.99977748108589	1	4494	105793948
71	HTRA1	10	0.87733887733888	177	1443	124221169-124221274, 124221285-124221291, 124221320-124221361, 124221370-124221391
72	OAT	10	0.99848484848485	2	1320	126089551-126089552
73	SLC25A22	11	0.99074074074074	9	972	792633, 792646, 792661-792667
74	TH	11	0.98920634920635	17	1575	2191929, 2191933-2191935, 2191943-2191953, 2191956, 2191990
75	KCNQ1	11	0.99162973904481	17	2031	2466394-2466398, 2466401-2466404, 2466570-2466577
76	CDKN1C	11	0.82439537329127	167	951	2905950-2905963, 2905969-2905974, 2906070-2906073, 2906076-2906081, 2906097-2906124, 2906139-2906141, 2906145, 2906148-2906160, 2906163-2906177, 2906188-2906194, 2906201-2906212, 2906227-2906228, 2906238-2906239, 2906246, 2906289-2906331, 2906437-2906446
77	SMPD1	11	0.99947257383966	1	1896	6411935
78	SBF2	11	0.99675675675676	18	5550	9838392-9838397, 10014065-10014076
79	USH1C	11	0.97740740740741	61	2700	17531105-17531132, 17531153, 17531156, 17531179-17531180, 17531295-17531323
80	ANO5	11	0.97665937272064	64	2742	22249084-22249087, 22276967, 22276977, 22277001-22277013, 22277016-22277029, 22277037, 22277039-22277068
81	WT1	11	0.9993564993565	1	1554	32456835
82	PDHX	11	0.99933598937583	1	1506	34991727
83	RAG1	11	0.99968071519796	1	3132	36594935
84	ALX4	11	0.99919093851133	1	1236	44331164
85	SLC35C1	11	0.99905303030303	1	1056	45827806
86	MADD	11	0.9993932038835	3	4944	47300606, 47331116-47331117
87	RAPSN	11	0.98708635996772	16	1239	47470445-47470460
88	SERPING1	11	0.99933466400532	1	1503	57365750
89	TMEM216	11	0.99621212121212	1	264	61165280
90	ROM1	11	0.99242424242424	8	1056	62381084, 62381337-62381343
91	BSCL2	11	0.99928005759539	1	1389	62472932
92	SLC22A12	11	0.99638989169675	6	1662	64367192, 64367272-64367276
93	PC	11	0.99971727452643	1	3537	66620094
94	AIP	11	0.99697885196375	3	993	67257559, 67257562, 67257567
95	LRP5	11	0.98349834983498	80	4848	68080183-68080262
96	DHCR7	11	0.9936974789916	9	1428	71146577-71146584, 71146594
97	MYO7A	11	0.9998495788207	1	6648	76922295
98	DYNC2H1	11	0.97612977983778	309	12945	102984266, 102984283-102984290, 102984299-102984332, 102984348, 102984373, 102988426, 102991676, 102999683, 102999699-102999700, 103014045-103014064, 103018560, 103023005-103023006, 103029425-103029430, 103029440-103029441, 103029449-103029454, 103029527-103029528, 103031669, 103036759, 103039677, 103043811-103043868, 103043926, 103043936-103043939, 103043943-103043946, 103044022-103044034, 103049779, 103049784, 103052544, 103052550, 103057045-103057051, 103057058-103057096, 103059226-103059229, 103059239, 103059252, 103059263-103059272, 103059283-103059288, 103062251-103062252, 103062968-103062993, 103070174, 103070180, 103082535-103082536, 103082590, 103082670-103082672, 103124019, 103130629, 103130678, 103187278-103187303
99	ATM	11	0.9913858903064	79	9171	108098518, 108126961-108126971, 108126976-108126983, 108126993-108127046, 108127050-108127052, 108196130, 108196152
100	DLAT	11	0.99279835390947	14	1944	111909970-111909972, 111909998-111909999, 111910113-111910121
101	ROBO3	11	0.99831771208844	7	4161	124748633-124748639
102	WNK1	12	0.99986012029654	1	7149	968533
103	CACNA1C	12	0.99862825788752	9	6561	2794934-2794940, 2797845-2797846
104	VWF	12	0.98910210850509	92	8442	6103081, 6125338-6125344, 6127532-6127538, 6128170, 6128339-6128345, 6128554-6128560, 6131926-6131932, 6131955-6131982, 6132007-6132033
105	ATN1	12	0.9930030786454	25	3573	7045600-7045608, 7045904, 7045914-7045922, 7045929-7045932, 7050617-7050618
106	AICDA	12	0.99497487437186	3	597	8756880-8756882
107	ABCC9	12	0.99397849462366	28	4650	21962833, 21962842, 21962849-21962854, 21962859, 21962862-21962864, 21962875, 21962882-21962884, 21998550-21998553, 21998567, 21998570-21998571, 21998597, 22063804, 22063807, 22063815, 22063826
108	KRAS	12	0.99649122807018	2	570	25380207-25380208
109	KIF21A	12	0.99739269955876	13	4986	39709033-39709042, 39760304, 39761726, 39761832
110	LRRK2	12	0.98549578059072	110	7584	40634363, 40645140, 40645156, 40707825-40707838, 40716973, 40716996, 40740564, 40745474-40745483, 40753065, 40761478-40761556
111	IRAK4	12	0.99855386840202	2	1383	44166737, 44180326
112	MLL2	12	0.9906103286385	156	16614	49418433-49418444, 49424178, 49426563-49426592, 49426602-49426626, 49426726-49426734, 49426737, 49426740, 49426743-49426753, 49426772-49426774, 49427006-49427021, 49427262-49427290, 49427639, 49427662, 49427665-49427670, 49431318-49431321, 49434283-49434286, 49434291, 49445562
113	TUBA1A	12	0.95175438596491	22	456	49522195-49522216
114	KRT81	12	0.98221343873518	27	1518	52681437, 52682999-52683005, 52683862-52683873, 52684950-52684956
115	KRT86	12	0.98631074606434	20	1461	52695994-52696000, 52697081-52697092, 52697952
116	KRT83	12	0.99797570850202	3	1482	52713089-52713091
117	KRT6B	12	0.97581120943953	41	1695	52843632-52843637, 52844237-52844243, 52845365-52845371, 52845432-52845438, 52845571-52845577, 52845798-52845804
118	KRT6C	12	0.95221238938053	81	1695	52864945-52864973, 52865295-52865300, 52867024-52867030, 52867091-52867108, 52867230-52867236, 52867372-52867378, 52867457-52867463
119	KRT6A	12	0.98466076696165	26	1695	52884735, 52886542-52886559, 52886908-52886914
120	KRT5	12	0.99097574732092	16	1773	52908842, 52908845, 52908850-52908855, 52908883-52908890
121	KRT1	12	0.99638242894057	7	1935	53069321-53069327
122	RDH5	12	0.99059561128527	9	957	56115582-56115590
123	KIF5A	12	0.99612778315586	12	3099	57944102-57944113
124	LEMD3	12	0.99671052631579	9	2736	65612332-65612335, 65612350, 65612357, 65612387, 65612398-65612399
125	CEP290	12	0.97540322580645	183	7440	88443128-88443136, 88462325, 88462330-88462332, 88462337-88462348, 88462355-88462402, 88472886, 88472984-88472985, 88479816, 88490686, 88490700-88490701, 88490717, 88496726-88496727, 88496775, 88505471, 88505475-88505476, 88505480, 88505574-88505583, 88505588-88505593, 88505631, 88513911, 88513945, 88513949, 88513952-88513959, 88513973-88514012, 88519023, 88519093-88519099, 88522723-88522738, 88530504, 88530512, 88532965
126	SYCP3	12	0.9803094233474	14	711	102122909-102122911, 102122914-102122924
127	PAH	12	0.99926416482708	1	1359	103288640
128	MYL2	12	0.99001996007984	5	501	111348902-111348904, 111348928-111348929
129	ATXN2	12	0.95788939624556	166	3942	112036705, 112036711-112036717, 112036739-112036743, 112036754-112036785, 112036789-112036797, 112036807-112036821, 112036880-112036906, 112036913-112036920, 112036929-112036936, 112036949-112036950, 112036956-112036957, 112037000, 112037008-112037013, 112037017-112037027, 112037031, 112037037-112037044, 112037053, 112037105, 112037206-112037226
130	TBX3	12	0.99955197132616	1	2232	115112278
131	HNF1A	12	0.99789029535865	4	1896	121434366-121434369
132	SACS	13	0.99912663755459	12	13740	23908620-23908628, 23908638-23908640
133	B3GALTL	13	0.99265197060788	11	1497	31860946-31860956
134	BRCA2	13	0.99795261772448	21	10257	32906599-32906617, 32920974, 32920986
135	SLC25A15	13	0.99779249448124	2	906	41381572-41381573
136	SUCLA2	13	0.99568965517241	6	1392	48528283, 48542735, 48542759, 48571073-48571075
137	RB1	13	0.98205956225332	50	2787	48934236, 48939038, 48941632-48941636, 48941640-48941643, 48941663-48941664, 48941672, 48941679, 48942663-48942664, 48947555-48947558, 48947571, 48947580-48947584, 48947596-48947600, 48947615-48947620, 48947624, 49039216-49039226
138	ZIC2	13	0.9068167604753	149	1599	100634398-100634401, 100634410, 100634594-100634600, 100635004-100635040, 100637597, 100637703, 100637710, 100637716-100637719, 100637722-100637741, 100637751, 100637755, 100637786-100637792, 100637795, 100637800-100637806, 100637816-100637818, 100637824-100637868, 100637880, 100637883, 100637903-100637908
139	PCCA	13	0.99222679469593	17	2187	100764106-100764120, 100909915, 100909918
140	ERCC5	13	0.99858457183298	6	4239	103468790, 103468796, 103468850-103468853
141	F10	13	0.99045671438309	14	1467	113777177-113777190
142	PABPN1	14	0.85776330076004	131	921	23790739-23790757, 23790789, 23790798, 23790816, 23790850, 23790867-23790915, 23790931-23790986, 23791001, 23791004, 23791015
143	NRL	14	0.99859943977591	1	714	24550590
144	PCK2	14	0.99895995839834	2	1923	24568259-24568260
145	FOXG1	14	0.77006802721088	338	1470	29236538-29236594, 29236624-29236626, 29236637, 29236640, 29236674-29236949
146	FANCM	14	0.98487066861884	93	6147	45623919-45623928, 45623942-45623995, 45628445, 45628448, 45628455-45628467, 45636305, 45650652, 45650692, 45650868-45650869, 45650888, 45652977-45652978, 45653032, 45653085, 45653090, 45653098, 45668076, 45669146
147	C14orf104	14	0.99522673031026	12	2514	50100980-50100991
148	SYNE2	14	0.99440262497587	116	20724	64457692-64457709, 64457735-64457770, 64460611-64460624, 64483283-64483294, 64494385, 64494436, 64497776-64497787, 64519141-64519155, 64522863, 64522871-64522873, 64556301, 64556350-64556351
149	ZFYVE26	14	0.99868766404199	10	7620	68241769-68241771, 68241778-68241780, 68244313-68244316
150	EIF2B2	14	0.98106060606061	20	1056	75471521-75471525, 75471530, 75471535-75471540, 75471585-75471592
151	MLH3	14	0.99954149472719	2	4362	75506689, 75506692
152	ESRRB	14	0.99934512115259	1	1527	76964701
153	VIPAR	14	0.99460188933873	8	1482	77894750-77894757
154	GALC	14	0.99368318756074	13	2058	88448549-88448553, 88448556-88448557, 88448563-88448568
155	SPATA7	14	0.99444444444444	10	1800	88859803, 88859821-88859826, 88883115, 88883146, 88883179
156	TTC8	14	0.99160206718346	13	1548	89305819, 89305842-89305848, 89305851, 89337896-89337898, 89343669
157	ATXN3	14	0.9548802946593	49	1086	92537354, 92559599, 92559602-92559609, 92559616-92559629, 92559636-92559655, 92559658-92559662
158	VRK1	14	0.96557514693535	41	1191	97304110-97304113, 97304116-97304119, 97304125-97304127, 97304130-97304154, 97322523-97322527
159	AMN	14	0.99779735682819	3	1362	103396589-103396591
160	INF2	14	0.92	300	3750	105173771-105173780, 105173859-105174124, 105174173-105174192, 105177483-105177486
161	NIPA1	15	0.82020202020202	178	990	23086234-23086411
162	UBE3A	15	0.99391171993912	16	2628	25602032, 25616251-25616257, 25616620-25616626, 25616750
163	SPRED1	15	0.99850187265918	2	1335	38614491-38614492
164	CHST14	15	0.9973474801061	3	1131	40763413, 40763522, 40763528
165	TTBK2	15	0.99625167336011	14	3735	43103909, 43109282-43109290, 43164912-43164915
166	STRC	15	0.98967717717718	55	5328	43896918, 43905048, 43910118-43910124, 43910863-43910908
167	STRC	15	0.99897435897436	2	1950	44009583, 44009608
168	SPG11	15	0.99672667757774	24	7332	44912568-44912571, 44912575-44912588, 44941103, 44941107, 44941166-44941167, 44955639-44955640
169	DUOX2	15	0.99784807402625	10	4647	45398348-45398356, 45398359
170	SLC12A1	15	0.99272727272727	24	3300	48577378-48577387, 48577390-48577402, 48577439
171	FBN1	15	0.99814298978644	16	8616	48776042-48776049, 48784668-48784674, 48784716
172	CEP152	15	0.9987915407855	6	4965	49036453-49036454, 49073508-49073509, 49073517-49073518
173	SCG3	15	0.99004975124378	14	1407	52005557-52005570
174	HCN4	15	0.99723145071982	10	3612	73614822-73614824, 73614834, 73614905, 73615396, 73615401-73615403, 73660367
175	RPS17	15	0.9828431372549	7	408	82823387-82823393
176	RPS17	15	0.9828431372549	7	408	83207730-83207736
177	FANCI	15	0.99799347880612	8	3987	89843083-89843090
178	POLG	15	0.99677419354839	12	3720	89876826-89876836, 89876847
179	MESP2	15	0.97654941373534	28	1194	90320121-90320146, 90320149, 90320161
180	BLM	15	0.97978373295722	86	4254	91337413-91337461, 91337470, 91337475, 91337501, 91337525-91337535, 91337541-91337562, 91337587
181	VPS33B	15	0.99946062567422	1	1854	91542219
182	HBZ	16	0.91841491841492	35	429	203945-203974, 204309-204313
183	CLCN7	16	0.99958643507031	1	2418	1524896
184	GFER	16	0.94660194174757	33	618	2034228-2034231, 2034284, 2034333-2034336, 2034346-2034363, 2034366-2034370, 2034382
185	TSC2	16	0.99963126843658	2	5424	2103398, 2103409
186	PKD1	16	0.92642503097893	950	12912	2140959-2140991, 2141029, 2141145, 2141162-2141165, 2147195-2147196, 2147914-2147920, 2149862-2149879, 2149915-2149921, 2149952-2149968, 2150059, 2150070-2150071, 2150278-2150284, 2152124-2152134, 2152243-2152257, 2152387-2152388, 2152513-2152519, 2152552-2152573, 2152896-2152928, 2153295-2153312, 2153441-2153447, 2153502, 2153592-2153633, 2153711-2153727, 2153764-2153770, 2153820-2153826, 2154547-2154576, 2155875-2155895, 2155981-2155987, 2156018-2156025, 2156192-2156198, 2156241-2156254, 2156399-2156404, 2156427-2156472, 2156494-2156500, 2156588-2156613, 2156807-2156853, 2159144-2159150, 2159577-2159584, 2159712-2159718, 2159960-2159999, 2160134-2160140, 2160503, 2160718-2160732, 2160769-2160775, 2161153, 2161793, 2161796, 2162361, 2164432, 2164563-2164594, 2164803-2164812, 2166564-2166595, 2166834-2166845, 2166976-2167001, 2167545-2167568, 2167632-2167638, 2167870-2167878, 2167969-2168000, 2168056-2168075, 2168132-2168170, 2168231-2168271, 2168438-2168453, 2185504-2185510, 2185558-2185561, 2185567-2185569, 2185594-2185595, 2185662-2185690
187	SLX4	16	0.99963669391462	2	5505	3652210, 3652222
188	CREBBP	16	0.99863555737481	10	7329	3778449-3778450, 3779332, 3779337, 3779368-3779369, 3929844-3929845, 3929878, 3929881
189	ALG1	16	0.91827956989247	114	1395	5130969-5130999, 5131028-5131052, 5132560-5132606, 5132636, 5132657-5132659, 5134776-5134782
190	ABCC6	16	0.98781028368794	55	4512	16295957, 16308229-16308235, 16315575-16315611, 16315665-16315674
191	OTOA	16	0.98830409356725	40	3420	21742158-21742182, 21752088-21752095, 21768527-21768533
192	OTOA	16	0.98493975903614	15	996	22568210-22568217, 22584667-22584673
193	CLN3	16	0.99392558845862	8	1317	28497673-28497675, 28497686-28497690
194	TUFM	16	0.99926900584795	1	1368	28857419
195	ATP2A1	16	0.99933466400532	2	3006	28911967-28911968
196	PHKG2	16	0.92874692874693	87	1221	30760150-30760236
197	FUS	16	0.99557242251739	7	1581	31195711-31195717
198	SLC5A2	16	0.99950470529965	1	2019	31500056
199	SALL1	16	0.99672955974843	13	3975	51175656-51175660, 51175665-51175671, 51175680
200	RPGRIP1L	16	0.99366767983789	25	3948	53672233-53672240, 53672244-53672254, 53672268-53672269, 53672318, 53691460, 53730161, 53730164
201	MMP2	16	0.99949571356531	1	1983	55513473
202	CNGB1	16	0.99813631522897	7	3756	57973462-57973468
203	HSD11B2	16	0.92857142857143	87	1218	67465155-67465157, 67465170, 67465191-67465233, 67465255-67465290, 67469986-67469989
204	LCAT	16	0.99092970521542	12	1323	67976984, 67976987-67976996, 67977003
205	CDH3	16	0.9995983935743	1	2490	68679558
206	HP	16	0.97788697788698	27	1221	72091295, 72091307-72091308, 72091311, 72093014-72093036
207	MLYCD	16	0.97300944669366	40	1482	83932818-83932829, 83932844-83932854, 83932866, 83932879-83932880, 83932888, 83932983-83932988, 83932991-83932992, 83933021, 83933029, 83933084, 83933091-83933092
208	FOXF1	16	0.9719298245614	32	1140	86544207-86544238
209	GALNS	16	0.9980879541109	3	1569	88923230-88923232
210	SPG7	16	0.99748743718593	6	2388	89579413-89579416, 89579419-89579420
211	FANCA	16	0.99839743589744	7	4368	89805932, 89842215-89842220
212	CTNS	17	0.99833748960931	2	1203	3559792-3559793
213	GUCY2D	17	0.99667874396135	11	3312	7906373-7906375, 7906404-7906407, 7906411, 7906914-7906916
214	HES7	17	0.97345132743363	18	678	8025000, 8025662-8025678
215	MYH8	17	0.99982800137599	1	5814	10302127
216	MYH2	17	0.99193271541366	47	5826	10446224-10446270
217	MYH3	17	0.99982826721621	1	5823	10534936
218	ELAC2	17	0.99637243047158	9	2481	12896189-12896197
219	COX10	17	0.99399399399399	8	1332	14095309, 14095345-14095351
220	RAI1	17	0.99790246460409	12	5721	17697106-17697111, 17697132-17697136, 17700891
221	MYO15A	17	0.99773435287454	24	10593	18024037-18024038, 18024044, 18049323, 18057097, 18057105-18057113, 18057130-18057137, 18057167, 18057192
222	UNC119	17	0.98755186721992	9	723	26879387-26879395
223	SLC6A4	17	0.99788695192816	4	1893	28538387-28538390
224	NF1	17	0.9943661971831	48	8520	29422328-29422337, 29422353-29422357, 29422361-29422363, 29422368-29422373, 29422387, 29556221-29556236, 29664837, 29664861-29664865, 29665134
225	KRT10	17	0.99316239316239	12	1755	38975099-38975103, 38975117-38975119, 38975131, 38975136, 38975317, 38975328
226	KRT9	17	0.99786324786325	4	1872	39723886-39723889
227	KRT14	17	0.94291754756871	81	1419	39738749-39738763, 39741304-39741309, 39742627-39742633, 39742811-39742835, 39742846-39742872, 39742894
228	KRT16	17	0.91701828410689	118	1422	39766265-39766281, 39767609-39767615, 39768412-39768418, 39768490-39768496, 39768658-39768698, 39768721-39768759
229	KRT17	17	0.98922247882987	14	1299	39780465-39780471, 39780516-39780522
230	STAT5B	17	0.9826565143824	41	2364	40371359-40371399
231	WNK4	17	0.9994640943194	2	3732	40932839, 40932849
232	SLC4A1	17	0.9937865497076	17	2736	42328585-42328586, 42328596-42328599, 42328816-42328826
233	GRN	17	0.996632996633	6	1782	42429566-42429567, 42429572, 42429879, 42429901, 42429920
234	PLEKHM1	17	0.9993692841375	2	3171	43545893, 43555372
235	WNT3	17	0.99812734082397	2	1068	44851216-44851217
236	TRIM37	17	0.99481865284974	15	2895	57109291, 57134358-57134371
237	BRIP1	17	0.996	15	3750	59793312-59793318, 59793343, 59793417, 59793424, 59934447, 59934501-59934504
238	ACE	17	0.99642948227493	14	3921	61554471, 61554478, 61554483-61554493, 61574564
239	SCN4A	17	0.9992741789149	4	5511	62029234-62029236, 62029239
240	POLG2	17	0.99451303155007	8	1458	62476447-62476454
241	AXIN2	17	0.99842022116904	4	2532	63554542-63554545
242	COG1	17	0.99932042133877	2	2943	71189238, 71189247
243	UNC13D	17	0.99755575924229	8	3273	73832753, 73832759-73832764, 73832772
244	SEPT9	17	0.92277115275412	136	1761	75494605-75494740
245	SGSH	17	0.99801192842942	3	1509	78194089-78194091
246	FSCN2	17	0.99661933739013	5	1479	79495767-79495770, 79504059
247	NDUFV2	18	0.988	9	750	9124922-9124929, 9126835
248	AFG3L2	18	0.99958228905597	1	2394	12377045
249	LAMA3	18	0.999400119976	6	10002	21269656-21269661
250	DSC3	18	0.99665551839465	9	2691	28574334-28574338, 28602324-28602326, 28602340
251	DSC2	18	0.98706577974871	35	2706	28659816-28659820, 28659843-28659855, 28659863-28659870, 28659891-28659899
252	LOXHD1	18	0.97875226039783	141	6636	44126858-44126998
253	MYO5B	18	0.99332972778078	37	5547	47352944-47352980
254	SMAD4	18	0.99879445449066	2	1659	48593436, 48593551
255	TCF4	18	0.99751984126984	5	2016	53254343-53254347
256	RAX	18	0.99807877041306	2	1041	56936387-56936388
257	LMAN1	18	0.98825831702544	18	1533	57000422-57000433, 57000444-57000449
258	TNFRSF11A	18	0.99513776337115	9	1851	59992594, 59992603-59992604, 59992607-59992611, 59992632
259	CTDP1	18	0.9996534996535	1	2886	77440042
260	ELANE	19	0.87437810945274	101	804	853262-853362
261	KISS1R	19	0.98078529657477	23	1197	918634, 920303, 920317-920322, 920327, 920333-920334, 920376-920378, 920664, 920705, 920729-920735
262	MAP2K2	19	0.92352452202826	92	1203	4123781-4123872
263	TUBB4	19	0.99101123595506	12	1335	6495233-6495237, 6495567, 6495573, 6495578-6495579, 6495590, 6495604, 6495607
264	C3	19	0.99759615384615	12	4992	6707093, 6707098-6707105, 6707109-6707111
265	TYK2	19	0.99971941638608	1	3564	10476390
266	PRKCSH	19	0.99810964083176	3	1587	11558341-11558343
267	CACNA1A	19	0.98923015556442	81	7521	13318563, 13318662-13318668, 13318671-13318699, 13318702-13318704, 13318715, 13318779-13318797, 13318800-13318810, 13318831-13318833, 13319570-13319574, 13409597, 13409833
268	NOTCH3	19	0.98492678725237	105	6966	15271895, 15271898-15271899, 15271907-15271910, 15281349-15281358, 15285052, 15285059-15285066, 15311638-15311716
269	JAK3	19	0.99851851851852	5	3375	17940953-17940955, 17940992-17940993
270	SLC5A5	19	0.99741200828157	5	1932	17984964-17984967, 17984970
271	COMP	19	0.99472295514512	12	2274	18900774, 18900786, 18900793, 18900796, 18900799-18900803, 18900812-18900814
272	CEBPA	19	0.78365831012071	233	1077	33792512, 33792515, 33792519, 33792658-33792661, 33792669-33792672, 33792682, 33792728-33792779, 33792853-33792875, 33792915-33792921, 33792926-33792930, 33792933, 33792984-33792985, 33793004-33793039, 33793140-33793182, 33793188-33793236, 33793298-33793300
273	SCN1B	19	0.95043370508055	40	807	35521725-35521764
274	WDR62	19	0.99978127734033	1	4572	36558310
275	RYR1	19	0.98862208110075	172	15117	38931405, 38987507, 38993366-38993367, 38998420, 38998424, 38998429, 39037164, 39055717-39055731, 39055759-39055858, 39055871-39055890, 39055897-39055925
276	ACTN4	19	0.99671052631579	9	2736	39138539-39138547
277	PRX	19	0.96306429548564	162	4386	40901111-40901112, 40901310-40901328, 40909613-40909641, 40909649-40909698, 40909708-40909769
278	TGFB1	19	0.99829497016198	2	1173	41837070, 41858921
279	ATP1A3	19	0.99891245241979	4	3678	42470998-42471001
280	BCAM	19	0.99417064122946	11	1887	45312388, 45312413-45312421, 45324068
281	DMPK	19	0.99153439153439	16	1890	46285523-46285532, 46285535, 46285543, 46285546, 46285559, 46285592, 46285602
282	FKRP	19	0.99327956989247	10	1488	47259145-47259153, 47260093
283	DBP	19	0.97955010224949	20	978	49138840-49138856, 49138870-49138871, 49138876
284	MED25	19	0.99866310160428	3	2244	50334095, 50334121, 50334129
285	KCNC3	19	0.84564643799472	351	2274	50823503-50823575, 50826290, 50826293, 50826412-50826413, 50826432, 50826435, 50826454, 50831490-50831491, 50831511-50831523, 50831529-50831539, 50831709-50831714, 50831728-50831729, 50831782-50831786, 50831893-50831911, 50831920-50831968, 50831988, 50832023, 50832035-50832037, 50832147, 50832182-50832339
286	KLK4	19	0.99869281045752	1	765	51412668
287	PRKCG	19	0.99331423113658	14	2094	54392977, 54392990-54392992, 54393175-54393176, 54393192, 54393210-54393211, 54393216, 54393219, 54393227-54393228, 54393251
288	TNNT1	19	0.98986058301648	8	789	55652279-55652282, 55652320-55652323
289	KLF11	2	0.97855750487329	33	1539	10183853-10183885
290	APOB	2	0.99795501022495	28	13692	21225307-21225322, 21239362-21239369, 21266752-21266754, 21266774
291	OTOF	2	0.98698698698699	78	5994	26699759-26699767, 26699789-26699791, 26699796-26699803, 26699806-26699834, 26699844-26699851, 26699855, 26699870, 26699882-26699885, 26699893-26699899, 26700117-26700124
292	ALK	2	0.98992391527863	49	4863	29451766-29451814
293	SPAST	2	0.89681253376553	191	1851	32289020-32289025, 32289062, 32289067-32289073, 32289076, 32289083-32289116, 32289119-32289132, 32289137-32289145, 32289149, 32289156-32289249, 32289278, 32323925, 32323936, 32323940, 32341262-32341281
294	CYP1B1	2	0.99938725490196	1	1632	38302199
295	SOS1	2	0.99550224887556	18	4002	39224394-39224406, 39224540-39224542, 39249824, 39285909
296	ABCG5	2	0.9959100204499	8	1956	44058953-44058957, 44058970-44058972
297	LRPPRC	2	0.99856630824373	6	4185	44161368, 44161376-44161380
298	MSH2	2	0.98716577540107	36	2805	47710021-47710056
299	MSH6	2	0.99608131276023	16	4083	48010465-48010467, 48010510-48010514, 48010531-48010537, 48032757
300	NRXN1	2	0.99593220338983	18	4425	50149115, 50758409-50758419, 50765569-50765574
301	EFEMP1	2	0.94534412955466	81	1482	56102081-56102151, 56144942-56144947, 56144954-56144957
302	MCEE	2	0.92278719397363	41	531	71337184-71337224
303	ALMS1	2	0.99552143314139	56	12504	73612997-73612998, 73613003-73613019, 73613029-73613044, 73613168-73613169, 73679412, 73679415-73679424, 73827996-73828002, 73828342
304	DCTN1	2	0.99843627834246	6	3837	74592662-74592667
305	GGCX	2	0.99912165129556	2	2277	85782625, 85788521
306	REEP1	2	0.94719471947195	32	606	86564602-86564633
307	EIF2AK3	2	0.99373321396598	21	3351	88879083-88879095, 88887539, 88887611, 88926730-88926735
308	RPIA	2	0.99893162393162	1	936	88991293
309	TMEM127	2	0.99860529986053	1	717	96931082
310	RANBP2	2	0.91638242894057	809	9675	109345588-109345601, 109347230, 109347317-109347341, 109347877-109347879, 109347891, 109352040-109352055, 109352099-109352105, 109357050-109357056, 109357110-109357126, 109363251-109363254, 109367751-109367775, 109368046-109368080, 109368104-109368110, 109368430-109368440, 109369918, 109369942-109369977, 109370345-109370363, 109370369-109370401, 109371385-109371402, 109371495-109371512, 109371632-109371633, 109374869-109374872, 109374915, 109378582-109378598, 109378650-109378651, 109382787-109382793, 109382937-109382946, 109382986-109383003, 109383052-109383058, 109383084-109383113, 109383137-109383148, 109383204-109383210, 109383268-109383289, 109383315-109383321, 109383354-109383360, 109383635-109383678, 109383702-109383727, 109383769-109383798, 109383822-109383840, 109383885-109383891, 109383986-109384013, 109384032-109384072, 109384164-109384205, 109384505-109384511, 109384542-109384587, 109384597-109384615, 109384628-109384652, 109384782-109384803, 109399154-109399155
311	MERTK	2	0.99966666666667	1	3000	112656327
312	GLI2	2	0.9964293215711	17	4761	121729615, 121729619-121729621, 121729627-121729637, 121745813, 121747406
313	BIN1	2	0.9983164983165	3	1782	127827639-127827641
314	PROC	2	0.98124098124098	26	1386	128180668, 128180699-128180723
315	CFC1	2	0.98214285714286	12	672	131279530-131279532, 131280382, 131280809-131280816
316	RAB3GAP1	2	0.99864222674813	4	2946	135815595, 135848572, 135848657, 135870721
317	LCT	2	0.99723374827109	16	5784	136564739-136564754
318	NEB	2	0.99589466306198	82	19974	152432727-152432743, 152432754-152432759, 152432764-152432814, 152432817-152432820, 152432823, 152551131-152551133
319	SCN2A	2	0.99385177799934	37	6018	166210912, 166221767-166221769, 166234115-166234125, 166234129-166234132, 166237156-166237171, 166237684, 166237693
320	GALNT3	2	0.98843322818086	22	1902	166611235-166611238, 166611507-166611524
321	SCN9A	2	0.99814627569936	11	5934	167060909-167060912, 167060937-167060940, 167060973, 167089854, 167163581
322	AGPS	2	0.94031360647446	118	1977	178257613-178257617, 178285007-178285028, 178346787-178346814, 178346817-178346823, 178346825-178346830, 178346844, 178346847-178346878, 178346889-178346897, 178346907-178346913, 178362466
323	PRKRA	2	0.99044585987261	9	942	179308085-179308093
324	TTN	2	0.99959101428457	41	100248	179392369-179392370, 179392377-179392379, 179392383, 179392389, 179406255-179406262, 179415807, 179448474-179448476, 179523795-179523805, 179534949, 179538413-179538416, 179543161, 179543169-179543171, 179559401, 179565881
325	COL3A1	2	0.98909338786639	48	4401	189850443, 189854147, 189856917, 189856924, 189871663-189871697, 189872646-189872653, 189872664
326	COL5A2	2	0.99066666666667	42	4500	189909949, 189916907-189916909, 189916912-189916949
327	PMS1	2	0.98535191139693	41	2799	190718678, 190718685-190718690, 190718696, 190718699, 190718728-190718741, 190718748, 190718775, 190718782-190718785, 190718807-190718808, 190718965-190718974
328	STAT1	2	0.99822458943631	4	2253	191859858-191859860, 191859917
329	HSPD1	2	0.99767711962834	4	1722	198351840-198351843
330	CASP8	2	0.99814471243043	3	1617	202149607-202149608, 202149614
331	ALS2	2	0.99899477281866	5	4974	202626274-202626276, 202626390-202626391
332	BMPR2	2	0.99711260827719	9	3117	203384823-203384831
333	ICOS	2	0.99833333333333	1	600	204820400
334	NDUFS1	2	0.99404761904762	13	2184	207012341-207012353
335	FASTKD2	2	0.99953117674637	1	2133	207652784
336	CPS1	2	0.99911170330891	4	4503	211455567-211455569, 211455580
337	ABCA12	2	0.99833076527992	13	7788	215809814-215809820, 215809824-215809825, 215854147-215854150
338	SMARCAL1	2	0.98987783595113	29	2865	217340072-217340073, 217340077, 217347538-217347557, 217347564-217347569
339	WNT10A	2	0.99681020733652	4	1254	219745748-219745751
340	DES	2	0.99504600141543	7	1413	220288509-220288515
341	OBSL1	2	0.99543138288526	26	5691	220435686, 220435689, 220435703-220435704, 220435746, 220435749-220435757, 220435767-220435776, 220435946-220435947
342	COL4A4	2	0.99881516587678	6	5064	227984625, 227984629-227984633
343	COL4A3	2	0.99980051865151	1	5013	228163465
344	SP110	2	0.99673202614379	7	2142	231067310-231067316
345	UGT1A1	2	0.99750312109863	4	1602	234668951-234668954
346	C20orf54	20	0.99858156028369	2	1410	744356-744357
347	AVP	20	0.94545454545455	27	495	3063295-3063296, 3063341-3063347, 3063392, 3063646, 3063672-3063675, 3063730, 3063739, 3063753-3063757, 3063762, 3063767-3063769, 3063775
348	PANK2	20	0.99883245767659	2	1713	3870250, 3870253
349	C20orf7	20	0.9971098265896	3	1038	13767969-13767971
350	SNTA1	20	0.97694334650856	35	1518	32031171-32031177, 32031380-32031383, 32031391, 32031399-32031421
351	SAMHD1	20	0.99415204678363	11	1881	35545178-35545184, 35545190-35545193
352	CTSA	20	0.99732798931196	4	1497	44520226, 44520238-44520240
353	CD40	20	0.99760191846523	2	834	44756969-44756970
354	COL9A3	20	0.99951338199513	1	2055	61456368
355	KCNQ2	20	0.99847269950363	4	2619	62103705-62103706, 62103709, 62103720
356	SOX18	20	0.69004329004329	358	1155	62680512-62680869
357	IFNGR2	21	0.92800788954635	73	1014	34775850-34775922
358	RCAN1	21	0.95388669301713	35	759	35987244-35987278
359	HLCS	21	0.99954149472719	1	2181	38309515
360	AIRE	21	0.98962148962149	17	1638	45710996-45710998, 45711003-45711008, 45713051-45713058
361	ITGB2	21	0.99437229437229	13	2310	46308635-46308637, 46308648-46308652, 46308675-46308678, 46308697
362	COL6A1	21	0.99902818270165	3	3087	47401784, 47401795-47401796
363	FTCD	21	0.98708487084871	21	1626	47565741-47565746, 47565761-47565775
364	PCNT	21	0.99900109879133	10	10011	47754449, 47832898-47832906
365	PRODH	22	0.99944536882973	1	1803	18923745
366	GP1BB	22	0.96779388083736	20	621	19711737-19711739, 19711742-19711743, 19711776, 19711779, 19711797-19711803, 19711814, 19711822-19711824, 19711827, 19711902
367	TBX1	22	0.8635752688172	203	1488	19748428-19748599, 19748625-19748626, 19748641-19748644, 19753524, 19753927-19753934, 19753940-19753953, 19753958, 19753968
368	CHEK2	22	0.96138557637706	68	1761	29083906-29083917, 29083946-29083965, 29085136-29085171
369	NF2	22	0.99608501118568	7	1788	30074303-30074309
370	TRIOBP	22	0.96097492251338	277	7098	38119742-38119774, 38119798-38119804, 38119846-38119862, 38119883-38119905, 38119953-38120009, 38120037-38120068, 38120140-38120156, 38120193-38120199, 38120394-38120432, 38120444-38120486, 38120668, 38120676
371	EP300	22	0.99986197377502	1	7245	41574193
372	TNFRSF13C	22	0.98918918918919	6	555	42322246, 42322250, 42322279, 42322320-42322322
373	CYB5R3	22	0.98896247240618	10	906	43045304-43045313
374	MLC1	22	0.96913580246914	35	1134	50502466-50502494, 50502526, 50502600-50502604
375	TYMP	22	0.97584541062802	35	1449	50964260-50964262, 50964268, 50964273, 50964437-50964439, 50964446, 50964450-50964454, 50964508, 50964694, 50964701, 50964709, 50964713-50964719, 50964725, 50964729-50964736, 50964827
376	SHANK3	22	0.89836003051106	533	5244	51113070-51113132, 51113484-51113487, 51113492-51113498, 51113503, 51135951-51136143, 51158736-51158738, 51158742-51158827, 51158830-51158903, 51158914-51158924, 51158939-51158984, 51159024, 51159027-51159031, 51159033, 51159039, 51159048, 51159077-51159079, 51159118, 51159132-51159134, 51159149, 51159180, 51159183-51159184, 51159187, 51159190-51159192, 51169529, 51169534, 51169537, 51169557, 51169602, 51169609, 51169646, 51169650, 51169681, 51169685, 51169689-51169693, 51169709, 51169714, 51169717-51169720
377	FANCD2	3	0.98482789855072	67	4416	10085532-10085539, 10088326-10088346, 10091149-10091156, 10106529-10106535, 10107165-10107171, 10108893-10108901, 10114941-10114947
378	MLH1	3	0.99911933069133	2	2271	37067310, 37067343
379	SCN5A	3	0.9988113431822	7	5889	38592925-38592931
380	ABHD5	3	0.99333333333333	7	1050	43756503-43756508, 43756523
381	TMIE	3	0.99363057324841	3	471	46751074-46751076
382	COL7A1	3	0.99977362761743	2	8835	48627122-48627123
383	FLNB	3	0.99910359841209	7	7809	58062876, 58134008, 58134011, 58134049-58134052
384	PDHB	3	0.98518518518519	16	1080	58416469-58416484
385	ATXN7	3	0.91437632135307	243	2838	63898275-63898339, 63898354-63898358, 63898378, 63898381-63898390, 63898420-63898581
386	PROK2	3	0.9974358974359	1	390	71834181
387	GBE1	3	0.93835941204362	130	2109	81754608-81754619, 81754630-81754666, 81754684-81754764
388	CHMP2B	3	0.99688473520249	2	642	87299093-87299094
389	POU1F1	3	0.9916142557652	8	954	87313609-87313616
390	PROS1	3	0.97095027080256	59	2031	93595864, 93595902-93595923, 93595959-93595986, 93595997-93596004
391	ARL6	3	0.94830659536542	29	561	97503810, 97503829-97503831, 97503839, 97503844-97503850, 97503857-97503866, 97503877-97503883
392	IQCB1	3	0.99499165275459	9	1797	121516031-121516038, 121547806
393	CASR	3	0.99969107198023	1	3237	122003526
394	RHO	3	0.99331423113658	7	1047	129251440-129251446
395	NPHP3	3	0.954169797145	183	3993	132406042-132406049, 132432009, 132432062, 132438549-132438674, 132441070-132441106, 132441115-132441124
396	FOXL2	3	0.97435897435897	29	1131	138664658-138664661, 138664671-138664675, 138664837-138664844, 138664866-138664877
397	PLOD2	3	0.96837944664032	72	2277	145799527-145799529, 145799533, 145799590, 145802965-145802967, 145803007-145803013, 145804626-145804636, 145804640-145804643, 145804645-145804678, 145804683-145804687, 145828127-145828128, 145828133
398	GFM1	3	0.99645390070922	8	2256	158399792-158399799
399	IFT80	3	0.99785223367698	5	2328	159995418, 160000272, 160021715, 160075308, 160075344
400	PDCD10	3	0.99843505477308	1	639	167405050
401	SLC2A2	3	0.99873015873016	2	1575	170720440, 170720451
402	MCCC1	3	0.99816345270891	4	2178	182755132-182755135
403	OPA1	3	0.99475065616798	16	3048	193354987-193354988, 193355004-193355007, 193355064, 193363359-193363367
404	IDUA	4	0.99847094801223	3	1962	996626, 997192-997193
405	FGFR3	4	0.99546765554182	11	2427	1808880-1808885, 1808914-1808918
406	SH3BP2	4	0.9951534733441	9	1857	2820023-2820028, 2820034, 2820098, 2820101
407	HTT	4	0.99300031816736	66	9429	3076606-3076659, 3076663, 3076672, 3076683-3076691, 3213792
408	DOK7	4	0.99405940594059	9	1515	3465252-3465260
409	EVC	4	0.98489425981873	45	2979	5713108-5713126, 5713142-5713159, 5713205, 5713227-5713228, 5713252, 5785469-5785472
410	SLC2A9	4	0.99876771410967	2	1623	9982289-9982290
411	CNGA1	4	0.94517543859649	125	2280	47954600-47954625, 47954643-47954644, 47954648-47954652, 47954689-47954720, 47972968-47973027
412	SLC4A4	4	0.99969558599696	1	3285	72352704
413	ALB	4	0.99508196721311	9	1830	74274514-74274522
414	CDS1	4	0.98917748917749	15	1386	85530582-85530594, 85560126, 85560143
415	PKD2	4	0.99656002751978	10	2907	88928945-88928949, 88928952-88928953, 88929005-88929007
416	SNCA	4	0.88416075650118	49	423	90749294-90749335, 90756698-90756699, 90756702, 90756705-90756708
417	MANBA	4	0.99886363636364	3	2640	103592440-103592441, 103611758
418	CISD2	4	0.95343137254902	19	408	103808512-103808522, 103808580-103808587
419	CFI	4	0.99942922374429	1	1752	110723082
420	ANK2	4	0.99932625905339	8	11874	114213643-114213650
421	BBS7	4	0.95065176908752	106	2148	122766740, 122775859-122775861, 122775865, 122775881-122775887, 122775893, 122775898, 122775908, 122775929-122775933, 122775943-122775975, 122782736-122782739, 122782748-122782772, 122782811-122782834
422	SMAD1	4	0.99785407725322	3	1398	146461147-146461149
423	FGA	4	0.99384851980008	16	2601	155507938-155507953
424	CTSO	4	0.99482401656315	5	966	156864324-156864328
425	GLRB	4	0.91633199464525	125	1494	158041708-158041814, 158060077-158060094
426	GK	4	0.95126353790614	81	1662	166199386-166199392, 166199558-166199592, 166199701, 166200060-166200090, 166200504-166200510
427	SDHA	5	0.97744360902256	45	1995	228359-228399, 251469, 254599, 256472, 256509
428	TERT	5	0.99764636657841	8	3399	1293606, 1294680, 1294699, 1294718, 1294902, 1294906, 1295006, 1295088
429	DNAH5	5	0.99351351351351	90	13875	13727656-13727682, 13727711, 13916461-13916516, 13916521, 13916527-13916531
430	ANKH	5	0.99323867478026	10	1479	14871540-14871549
431	NIPBL	5	0.9749257278669	211	8415	36972047-36972048, 37014855, 37016188, 37036481-37036589, 37044783-37044786, 37044807, 37048604-37048670, 37048688-37048696, 37048706-37048722
432	LIFR	5	0.98633879781421	45	3294	38482705-38482712, 38482723-38482727, 38482730, 38482732, 38482744-38482749, 38482759, 38490370-38490374, 38490383-38490388, 38506008-38506014, 38506019, 38506023-38506026
433	OXCT1	5	0.97184900831734	44	1563	41862744-41862748, 41862758-41862779, 41862815, 41862819, 41862832-41862845, 41862849
434	ITGA2	5	0.99407783417936	21	3546	52347241-52347243, 52347293-52347310
435	ERCC8	5	0.98152812762385	22	1191	60170454-60170461, 60186822, 60186847-60186849, 60200655, 60200665, 60200670, 60200689, 60200696, 60224737-60224740, 60224750
436	NDUFAF2	5	0.99607843137255	2	510	60448574, 60448585
437	SMN2	5	0.99435028248588	5	885	69362949, 69363240, 69366546-69366547, 69372353
438	SMN2	5	0.9954802259887	4	885	70238373, 70238664, 70241971-70241972
439	HEXB	5	0.99162178336326	14	1671	73981110-73981123
440	AP3B1	5	0.97716894977169	75	3285	77311340, 77311349, 77411973-77412000, 77521387-77521395, 77563352, 77563366, 77563386-77563419
441	RASA1	5	0.96405852417303	113	3144	86669980-86669984, 86669997-86669999, 86670031-86670037, 86670039, 86670045-86670137, 86679552-86679555
442	MEF2C	5	0.94725738396624	75	1422	88024310-88024321, 88024348-88024349, 88024360-88024369, 88024390-88024398, 88024405-88024445, 88119563
443	GPR98	5	0.99630040695523	70	18921	89925135-89925145, 89941785-89941801, 89941843, 90007009-90007010, 90007015, 90020713-90020720, 90020755, 90020923, 90020942, 90124812, 90144551-90144573, 90144609, 90144617, 90144620
444	WDR36	5	0.96778711484594	92	2856	110436315, 110436323, 110436326-110436327, 110436351-110436420, 110441756-110441773
445	APC	5	0.99542897327707	39	8532	112102909, 112102925, 112111326, 112128143-112128144, 112128160-112128186, 112128192-112128198
446	FBN2	5	0.99565167639318	38	8739	127645000, 127702087-127702123
447	MYOT	5	0.97194388777555	42	1497	137221751, 137221770-137221771, 137221779-137221785, 137221795-137221799, 137221808-137221814, 137221833, 137221859, 137221862-137221866, 137221890-137221902
448	MATR3	5	0.99646226415094	9	2544	138658512, 138658531-138658532, 138658535-138658539, 138658656
449	DIAPH1	5	0.99502487562189	19	3819	140953486-140953489, 140953501-140953505, 140953525, 140953531-140953532, 140953564-140953569, 140953757
450	PPP2R2B	5	0.99924924924925	1	1332	146077693
451	SPINK5	5	0.99908675799087	3	3285	147504348-147504349, 147504353
452	GRM6	5	0.99506454062263	13	2634	178413984, 178421696-178421697, 178421869, 178421929-178421935, 178421944-178421945
453	SQSTM1	5	0.99319727891156	9	1323	179247981-179247989
454	FLT4	5	0.99877810361681	5	4092	180076541-180076545
455	FOXC1	6	0.97894103489771	35	1662	1611556, 1611562-1611565, 1611568, 1611648-1611655, 1611811-1611813, 1611823, 1611828, 1611919-1611928, 1612018-1612023
456	TUBB2B	6	0.98505231689088	20	1338	3225458-3225462, 3225569-3225583
457	ATXN1	6	0.97508169934641	61	2448	16327859-16327864, 16327867, 16327873-16327875, 16327878, 16327894, 16327897, 16327900, 16327903, 16327906-16327912, 16327915, 16327918-16327955
458	HLA-H	6	0.98933333333333	8	750	29856421, 29856424-29856427, 29856439, 29856445, 29856643
459	TNXB	6	0.93519958527735	125	1929	31976896-31976929, 31977164-31977170, 31977388-31977394, 31977545-31977551, 31977786-31977792, 31977994-31978002, 31978498-31978517, 31978782-31978815
460	CYP21A2	6	0.96841397849462	47	1488	32006222, 32006317, 32006337, 32007404-32007410, 32007843-32007850, 32008195-32008201, 32008448-32008455, 32008754-32008760, 32008901-32008907
461	TNXB	6	0.99426506402702	73	12729	32009648-32009664, 32009899-32009905, 32010123-32010129, 32010232-32010244, 32010279-32010289, 32010520-32010526, 32010728-32010736, 32011235, 32011248
462	HLA-DQA1	6	0.89713541666667	79	768	32605266, 32605271, 32605274, 32609236, 32609949-32609977, 32609999-32610012, 32610433-32610464
463	HLA-DQB1	6	0.58905852417303	323	786	32628022, 32629124-32629173, 32629224-32629234, 32629761-32629767, 32629799-32629812, 32629844-32629908, 32629932-32629958, 32632684-32632697, 32632721-32632747, 32632778-32632785, 32634279-32634358, 32634366-32634384
464	COL11A2	6	0.99366724237191	33	5211	33138121-33138126, 33138130-33138138, 33140095, 33140126-33140138, 33140142-33140144, 33140358
465	SYNGAP1	6	0.92633928571429	297	4032	33388042-33388108, 33393614-33393679, 33411507-33411615, 33411620-33411674
466	MOCS1	6	0.99686028257457	6	1911	39874704-39874707, 39874711, 39874725
467	RUNX2	6	0.97126436781609	45	1566	45390442-45390472, 45390484-45390487, 45390490, 45390494-45390496, 45390499-45390504
468	CD2AP	6	0.99479166666667	10	1920	47471063, 47544745-47544751, 47563692, 47563695
469	MUT	6	0.92276964047936	174	2253	49409553-49409658, 49409672-49409684, 49419259, 49421348-49421398, 49421448, 49423906-49423907
470	PKHD1	6	0.99910020449898	11	12225	51497400, 51611630-51611631, 51611650, 51611659-51611661, 51640638-51640640, 51929829
471	EYS	6	0.98463169051404	145	9435	65098661-65098678, 65098694-65098696, 65098701-65098703, 65098710, 65303154, 65523301-65523305, 65523311-65523365, 65523369-65523378, 65596598, 65596601, 65596686, 66005829-66005860, 66094288-66094292, 66094309-66094313, 66094359-66094360, 66094363, 66094375
472	LMBRD1	6	0.97535428219347	40	1623	70410685, 70410714-70410750, 70410760-70410761
473	COL9A1	6	0.99783080260304	6	2766	70972970-70972975
474	RIMS1	6	0.99153376648947	43	5079	72952101, 72974688, 72974693-72974710, 73108725, 73108766, 73108776-73108796
475	SLC17A5	6	0.99126344086022	13	1488	74331616, 74331623, 74346344-74346354
476	MYO6	6	0.99974079834111	1	3858	76595755
477	LCA5	6	0.98662846227316	28	2094	80196745-80196750, 80196759-80196766, 80196772, 80196775, 80197017-80197028
478	BCKDHB	6	0.91942324003393	95	1179	80880999-80881032, 80881047-80881107
479	RARS2	6	0.99884858952216	2	1737	88228608, 88265223
480	SIM1	6	0.99956540634507	1	2301	100838837
481	FIG4	6	0.99559471365639	12	2724	110086280-110086291
482	COL10A1	6	0.9995105237396	1	2043	116442257
483	GJA1	6	0.99912967798085	1	1149	121768546
484	LAMA2	6	0.99722311225035	26	9363	129513906-129513907, 129635935, 129670459-129670466, 129670511, 129670515-129670520, 129670524, 129714206-129714208, 129714215-129714218
485	ARG1	6	0.99174406604747	8	969	131900412-131900419
486	ENPP1	6	0.99712023038157	8	2778	132171184, 132171187-132171190, 132176098, 132203557, 132203560
487	EYA4	6	0.99479166666667	10	1920	133769268-133769276, 133783580
488	PEX7	6	0.93724279835391	61	972	137167228-137167270, 137167281-137167285, 137167294, 137167308-137167319
489	PEX3	6	0.99554367201426	5	1122	143789300-143789302, 143792544, 143792560
490	IYD	6	0.99195402298851	7	870	150713496-150713502
491	SYNE1	6	0.9985223914526	39	26394	152545697-152545699, 152545702-152545710, 152545719-152545724, 152545728, 152545783, 152545788, 152697936-152697947, 152716685-152716689, 152725447
492	PARK2	6	0.97567954220315	34	1398	161969940-161969973
493	TBP	6	0.89411764705882	108	1020	170871010-170871109, 170871129-170871136
494	LFNG	7	0.82982456140351	194	1140	2559496-2559500, 2559513-2559536, 2559540, 2559544-2559549, 2559572-2559622, 2559628-2559630, 2559640-2559647, 2559656-2559678, 2559694, 2559699-2559707, 2559723-2559725, 2559743, 2559746-2559750, 2559754-2559767, 2559773-2559776, 2559791, 2559811-2559813, 2559822-2559848, 2559872-2559875, 2559880
495	PMS2	7	0.95558130552337	115	2589	6013030-6013052, 6013150-6013156, 6017321-6017327, 6026633-6026639, 6026704-6026710, 6026956-6026962, 6026999-6027039, 6029447-6029448, 6029454, 6043644, 6043658-6043661, 6045623-6045630
496	TWIST1	7	0.72906403940887	165	609	19156780-19156944
497	DNAH11	7	0.99417919245505	79	13572	21630536-21630580, 21630591-21630593, 21630614, 21630620, 21630636-21630640, 21659583-21659598, 21894010, 21894016, 21894023-21894027, 21894049
498	HOXA1	7	0.99702380952381	3	1008	27135317-27135319
499	HOXA13	7	0.80034275921165	233	1167	27239299-27239301, 27239306, 27239309-27239326, 27239332-27239334, 27239337-27239342, 27239349, 27239351, 27239371-27239485, 27239496-27239511, 27239522-27239590
500	GARS	7	0.9972972972973	6	2220	30634583-30634585, 30634677-30634679
501	RP9	7	0.9984984984985	1	666	33134883
502	BBS9	7	0.97334834834835	71	2664	33303902, 33303905-33303945, 33303954-33303961, 33303970-33303986, 33313462-33313465
503	CCM2	7	0.97752808988764	30	1335	45039933-45039962
504	ASL	7	0.99928315412186	1	1395	65554162
505	KCTD7	7	0.99195402298851	7	870	66094153-66094154, 66094160-66094163, 66094182
506	SBDS	7	0.99203187250996	6	753	66453460, 66460277-66460281
507	NCF1	7	0.91757575757576	68	825	72637917, 72639957-72639989, 72640033-72640039, 72643704-72643723, 72644230-72644236
508	ELN	7	0.99402298850575	13	2175	73442536-73442548
509	NCF1	7	0.9923273657289	9	1173	74193642, 74193668, 74197911-74197917
510	CD36	7	0.99436222692037	8	1419	80302132-80302139
511	AKAP9	7	0.99513817809621	57	11724	91609603-91609621, 91609632, 91609639-91609640, 91609643-91609647, 91630267-91630268, 91631401-91631414, 91671399-91671407, 91674381, 91674442, 91674502, 91695765-91695766
512	KRIT1	7	0.98643147896879	30	2211	91867039-91867064, 91867070-91867073
513	PEX1	7	0.99636552440291	14	3852	92122267-92122270, 92140303-92140312
514	COL1A2	7	0.99512314069739	20	4101	94027694-94027702, 94030918-94030926, 94030929, 94055310
515	SGCE	7	0.98746312684366	17	1356	94248070, 94248258-94248264, 94252654, 94259047, 94259055, 94259059-94259063, 94259066
516	SLC26A5	7	0.99418344519016	13	2235	103017284-103017289, 103017298-103017304
517	SLC26A4	7	0.99231754161332	18	2343	107340592-107340609
518	SLC26A3	7	0.99956427015251	1	2295	107432281
519	IFRD1	7	0.98377581120944	22	1356	112102123-112102144
520	CFTR	7	0.9552104433941	199	4443	117188713-117188753, 117188760-117188800, 117188838-117188853, 117234985-117235051, 117235055, 117235058, 117235081-117235112
521	AASS	7	0.99568500539374	12	2781	121758507, 121769552, 121769575-121769582, 121769585, 121769591
522	IMPDH1	7	0.99888888888889	2	1800	128045857, 128049859
523	ATP6V0A4	7	0.96591359492667	86	2523	138394370-138394411, 138394420-138394463
524	BRAF	7	0.99043893959148	22	2301	140434566-140434570, 140453113-140453114, 140477825, 140481400-140481411, 140549911-140549912
525	PRSS1	7	0.94623655913978	40	744	142459676-142459682, 142460335, 142460366-142460397
526	CLCN1	7	0.99292214357937	21	2967	143047472-143047492
527	CNTNAP2	7	0.996996996997	12	3996	145813983-145813988, 145813994-145813997, 147092871-147092872
528	KCNH2	7	0.96580459770115	119	3480	150644694-150644696, 150644705-150644709, 150644731-150644741, 150644744-150644754, 150644758, 150644768, 150644780-150644781, 150644793, 150671858-150671864, 150671883-150671890, 150671942-150671987, 150674972-150674994
529	SHH	7	0.99640028797696	5	1389	155595715-155595718, 155595807
530	MNX1	7	0.84577114427861	186	1206	156799286-156799289, 156799295, 156802654-156802802, 156802858, 156802862, 156802869, 156802890-156802909, 156802914-156802922
531	GATA4	8	0.99924755455229	1	1329	11566196
532	TUSC3	8	0.99713467048711	3	1047	15480678-15480680
533	SFTPC	8	0.99326599326599	4	594	22021056-22021059
534	ANK1	8	0.99929750614682	4	5694	41552271-41552274
535	HGSNAT	8	0.99109014675052	17	1908	42995670-42995678, 42995688-42995694, 42995700
536	CHD7	8	0.99844340671559	14	8994	61749379-61749384, 61749450, 61766037-61766043
537	TTPA	8	0.99641577060932	3	837	63998492-63998494
538	EYA1	8	0.99775154581225	4	1779	72246371, 72246380-72246382
539	CNGB3	8	0.99917695473251	2	2430	87656904, 87656913
540	NBN	8	0.99955849889625	1	2265	90960112
541	TMEM67	8	0.98694779116466	39	2988	94777646, 94777660-94777679, 94777689-94777693, 94777829-94777831, 94809368, 94822013-94822020, 94828601
542	VPS13B	8	0.98716024679006	154	11994	100050691-100050695, 100050705-100050708, 100123372-100123375, 100123403-100123406, 100123410-100123418, 100123429-100123441, 100123447-100123456, 100123462, 100123465-100123471, 100123483-100123484, 100146881-100146887, 100146911, 100146948-100146949, 100513950-100513993, 100514000-100514006, 100514031-100514056, 100514061-100514066, 100514070, 100883853
543	GRHL2	8	0.99787007454739	4	1878	102631828-102631831
544	KIAA0196	8	0.99712643678161	10	3480	126095355-126095364
545	KCNQ3	8	0.9831996945399	44	2619	133492536-133492545, 133492647, 133492747-133492779
546	TG	8	0.99987961959793	1	8307	133882071
547	CYP11B1	8	0.95238095238095	72	1512	143956453-143956459, 143956703-143956709, 143957128-143957154, 143958572-143958602
548	CYP11B2	8	0.94708994708995	80	1512	143993947-143993994, 143994069-143994080, 143994263-143994282
549	PLEC	8	0.9980078263963	28	14055	144993737, 144995065-144995068, 144996241-144996253, 144996260, 144996534-144996539, 144997133-144997134, 144998917
550	GPT	8	0.99128101945003	13	1491	145730792, 145731286, 145731924-145731927, 145732017-145732022, 145732032
551	RECQL4	8	0.99807003032809	7	3627	145738996-145739002
552	DOCK8	9	0.99952380952381	3	6300	332451, 452026, 452072
553	GLIS3	9	0.99713569638382	8	2793	4117854-4117861
554	JAK2	9	0.97087378640777	99	3399	5077453-5077549, 5090448, 5090484
555	FANCG	9	0.99732477260567	5	1869	35079180-35079184
556	GNE	9	0.99557913351017	10	2262	36217445-36217448, 36217451-36217456
557	FXN	9	0.99842022116904	1	633	71668062
558	VPS13A	9	0.96283464566929	354	9525	79820974-79820995, 79824355, 79824380-79824384, 79824411-79824415, 79840865-79840866, 79840869, 79840876-79840879, 79843044, 79843055-79843060, 79843124, 79891065-79891068, 79891072, 79891105, 79896784-79896785, 79896796-79896804, 79896811-79896829, 79896838-79896842, 79897078-79897101, 79908382, 79908405-79908424, 79910657-79910669, 79928912-79928917, 79928921, 79928928-79928932, 79931101, 79931125, 79931183, 79932528-79932614, 79938087-79938093, 79938100, 79938103-79938113, 79938120-79938121, 79946960, 79952301, 79952307, 79952310-79952314, 79954727-79954734, 79955132-79955133, 79955184, 79974249-79974251, 79996892-79996898, 79996906-79996907, 79996923-79996944, 79996953-79996983
559	FOXE1	9	0.99108734402852	10	1122	100616698, 100616701-100616709
560	TGFBR1	9	0.98611111111111	21	1512	101867538-101867546, 101867548-101867556, 101867561, 101867583, 101900147
561	DFNB31	9	0.99192364170338	22	2724	117266935, 117266945, 117266995-117267014
562	ENG	9	0.99797673242286	4	1977	130588020-130588023
563	DOLK	9	0.995670995671	7	1617	131709025-131709031
564	SETX	9	0.99975105800349	2	8034	135139874, 135158675
565	CEL	9	0.85072655217966	339	2271	135944521-135944527, 135944583-135944589, 135945985-135946018, 135946387-135946393, 135946654-135946895, 135946911-135946924, 135946928-135946946, 135946952-135946958, 135946962-135946963
566	SURF1	9	0.95902547065338	37	903	136223293-136223329
567	ADAMTS13	9	0.98576097105509	61	4284	136293786-136293787, 136293796-136293800, 136293816, 136293820-136293829, 136293836-136293838, 136293855-136293891, 136308657-136308659
568	COL5A1	9	0.99311219865869	38	5517	137534095-137534132
569	LHX3	9	0.95781637717122	51	1209	139090809, 139090845-139090852, 139090864-139090905
570	INPP5E	9	0.9922480620155	15	1935	139333150, 139333157, 139333322, 139333328-139333339
571	NOTCH1	9	0.99752217005738	19	7668	139390950-139390953, 139390960-139390961, 139390964, 139391547-139391558
572	AGPAT2	9	0.99522102747909	4	837	139581775, 139581778, 139581808-139581809
573	SLC34A3	9	0.96888888888889	56	1800	140128333-140128360, 140128364-140128376, 140128614-140128627, 140130747
574	EHMT1	9	0.99948678470618	2	3897	140637823-140637824
575	SHOX	X	0.98634812286689	12	879	595494-595505
576	KAL1	X	0.9985315712188	3	2043	8700008-8700010
577	GPR143	X	0.99921568627451	1	1275	9733695
578	OFD1	X	0.99572227706482	13	3039	13764528-13764540
579	FANCB	X	0.96705426356589	85	2580	14861689-14861698, 14871230, 14877310-14877343, 14877362-14877399, 14877444, 14877453
580	PHKA2	X	0.99892125134844	4	3708	18917314-18917317
581	RPS6KA3	X	0.99955015744489	1	2223	20213186
582	SMS	X	0.99091734786558	10	1101	21958964-21958965, 21958971, 21958985-21958991
583	ARX	X	0.95855535820012	70	1689	25031382-25031385, 25031468, 25031564, 25031643-25031686, 25031706-25031714, 25031790-25031797, 25031805-25031807
584	GK	X	0.99638989169675	6	1662	30726246-30726251
585	DMD	X	0.99837221920781	18	11058	32361301-32361302, 32366644-32366645, 32398699, 32398703, 32407782-32407791, 32490288, 32490418
586	RPGR	X	0.89881468632553	350	3459	38145171, 38145178, 38145192, 38145327-38145353, 38145376-38145679, 38163969-38163975, 38170002-38170010
587	NYX	X	0.99377593360996	9	1446	41333154, 41333235-41333238, 41333242, 41333279, 41333523, 41333527
588	SYN1	X	0.99905571293673	2	2118	47436855-47436856
589	WAS	X	0.99602385685885	6	1509	48547236, 48547306-48547310
590	KDM5C	X	0.99829169335896	8	4683	53224193-53224200
591	ARHGEF9	X	0.9993552546744	1	1551	62898402
592	AR	X	0.96380745566413	100	2763	66765156-66765208, 66766357-66766395, 66766397-66766404
593	MED12	X	0.9897459442914	67	6534	70338605-70338616, 70338635-70338657, 70338683-70338703, 70349615-70349622, 70354949, 70360660, 70361115
594	TAF1	X	0.98187258007744	103	5682	70586165-70586256, 70586260-70586269, 70586284
595	SLC16A2	X	0.99891422366992	2	1842	73641386-73641387
596	ABCB7	X	0.99911582670203	2	2262	74291514, 74318819
597	ATRX	X	0.99478539911753	39	7479	76764063, 76814242, 76814246, 76874443, 76875902, 76875981-76875986, 76875990, 76912100-76912119, 76912137-76912143
598	ATP7A	X	0.99888962913613	5	4503	77276538-77276542
599	BRWD3	X	0.98040303198373	106	5409	79960223, 79960298, 79960301-79960302, 79965001, 79965028-79965031, 79965042-79965043, 79965050, 79965056, 79991500, 79991517-79991527, 79991530-79991535, 79991538-79991541, 79991543-79991554, 79991560-79991587, 80064940-80064970
600	ZNF711	X	0.99781277340332	5	2286	84520251, 84520254-84520257
601	CHM	X	0.99949031600408	1	1962	85282538
602	TIMM8A	X	0.99319727891156	2	294	100601487-100601488
603	COL4A5	X	0.9988137603796	6	5058	107834419-107834424
604	LAMP2	X	0.99029126213592	12	1236	119590517-119590527, 119590533
605	CUL4B	X	0.99781181619256	6	2742	119694124-119694129
606	XIAP	X	0.99933065595716	1	1494	123025099
607	FRMD7	X	0.99440559440559	12	2145	131211948-131211955, 131211966-131211969
608	SLC9A6	X	0.97530864197531	52	2106	135080284-135080296, 135104746-135104748, 135104776-135104802, 135104835-135104838, 135104843, 135104848-135104851
609	ZIC3	X	0.99358974358974	9	1404	136648985-136648987, 136651113, 136651133, 136651138-136651140, 136651164
610	SOX3	X	0.95898583146905	55	1341	139585940, 139585989-139585997, 139586151-139586164, 139586174-139586182, 139586338, 139586492-139586499, 139586503, 139586508-139586511, 139586514-139586519, 139587215-139587216
611	AFF2	X	0.9994918699187	2	3936	147744250-147744251
612	SLC6A8	X	0.89675052410901	197	1908	152954030, 152954073-152954249, 152958529-152958546, 152960082
613	ABCD1	X	0.91957104557641	180	2238	152990968-152990970, 152991223, 153008473-153008486, 153008675-153008678, 153008705-153008734, 153008785-153008791, 153008943-153008949, 153008981-153008987, 153009014-153009047, 153009059-153009089, 153009114-153009155
614	MECP2	X	0.95858383433534	62	1497	153363061-153363122
615	OPN1LW	X	0.95799086757991	46	1095	153418453-153418471, 153420176, 153421800-153421824, 153421950
616	OPN1MW	X	0.96712328767123	36	1095	153455583-153455601, 153458939-153458954, 153459003
617	OPN1MW	X	0.95251141552511	52	1095	153492701-153492719, 153496057-153496089
618	IKBKG	X	0.98428961748634	23	1464	153784526-153784532, 153792557-153792572
619	IKBKG	X	0.96728016359918	16	489	153868355-153868370

Effect rank	Variant	Phase/ Zygosity	Allele freq	Impact	Evaluation	Summary / Info
5	RNASEH2B-I309Shift	homozygous	0.023	Recessive pathogenic	High clinical importance, uncertain	Variants in this protein are implicated in causing Aicardi-Goutieres syndrome in a recessive manner, a rare congenital disease in infants that is usually fatal in the first few years. All families with this gene implicated as causal have disruptive substitutions upstream of this location, so it is unclear whether this downstream frameshift mutation would the same pathogenic effect.
5	COL9A3-G17E	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
5	COL9A3-R103W	het unknown	0.016	Dominant pathogenic	Moderate clinical importance, likely	Carriers of this collagen variant are associated with having a significantly increased risk of lumbar disc disease (~11% total risk compared to a typical risk of 4%).
5	COL9A3-A435E	het unknown	0.218	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.568 (possibly damaging), Testable gene in GeneTests with associated GeneReview
5	PRODH-R521Q	homozygous	0.887	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
5	PRODH-R431H	homozygous	0.035	Recessive pathogenic	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests
5	PRODH-W185R	homozygous	0.826	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
5	PRODH-P30S	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
4	WFS1-V333I	het unknown	0.889	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
4	WFS1-C426Y	het unknown	0.008	Dominant pathogenic	Moderate clinical importance, uncertain	Reported in a single case of familial depression, but no linkage data and no statistical significance.
3	CASP10-S239C	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3	CASP10-V410I	het unknown	0.031	Dominant protective	Low clinical importance, likely	Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average).
3	CASP10-L522I	het unknown	0.309	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5	COL4A1-Q1334H	het unknown	0.292	Dominant pathogenic	Low clinical importance, likely	This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.
2.5	COL4A1-T555P	homozygous	0.994	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5	COL4A1-P54L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5	ABCG8-D19H	het unknown	0.043	Complex/Other pathogenic	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests
2.5	ABCG8-T400K	het unknown	0.225	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.157 (benign), Testable gene in GeneTests
2.5	ABCG8-V632A	homozygous	0.908	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
2.5	SP110-M523T	het unknown	0.319	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-E207K	het unknown	0.087	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5	SP110-A128V	het unknown	0.078	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	ANGPTL4-E40K	het unknown	0.008	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.98 (probably damaging)
2.5	ANGPTL4-T266M	het unknown	0.242	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.006 (benign)
2	SPG7-T503A	homozygous	0.095	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
2	SPG7-R688Q	homozygous	0.072	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview
2	CST3-A25T	het unknown		Unknown pathogenic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown
2	NEFL-S472Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview
2	MSH6-G39E	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.873 (probably damaging), Testable gene in GeneTests with associated GeneReview
2	MSH6-S503C	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2	SNCAIP-R621C	het unknown		Unknown pathogenic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown
2	BARD1-C557S	het unknown	0.016	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.464 (possibly damaging)
2	BARD1-V507M	homozygous	0.347	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.032 (benign)
2	BARD1-R378S	homozygous	0.416	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.002 (benign)
2	BARD1-P24S	het unknown	0.302	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.027 (benign)
1.75	MEFV-I591T	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.75	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
1.75	MEFV-E148Q	het unknown	0.088	Recessive pathogenic	Insufficiently evaluated	Prioritization score: 5 Polyphen 2: 0.852 (probably damaging), 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	LOXL1-R141L	het unknown		Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.998 (probably damaging)
1.5	ABCG5-R50C	het unknown	0.070	Unknown protective	Low clinical importance, likely	This variant has a mild protective effect on blood cholesterol. It is associated with slightly lower total and LDL cholesterol levels.
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	ABCA4-R943Q	het unknown	0.039	Unknown benign	Low clinical importance, uncertain	This is a polymorphism in a gene associated with Stargardt disease. Although it has a slight detectable effect in functional study, it is common in control groups and is not believed to have any significant pathogenic effect.
1.25	ABCA4-G863A	het unknown	0.018	Recessive pathogenic	Insufficiently evaluated	Prioritization score: 5 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
1.125	CFTR-V470M	het unknown	0.621	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.125	CFTR-S1235R	het unknown	0.008	Recessive pathogenic	Moderate clinical importance, uncertain	Reported to cause mild dysfunction of the cystic fibrosis gene, it may result in cystic fibrosis when combined with more severe variants.
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	CPS1-E114Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview
1	CPS1-G116Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview
1	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
1	PLEKHA2-P389Shift	homozygous	0.032	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	CELA1-L210Shift	homozygous	0.156	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Frameshift
1	CELA1-M59V	homozygous	0.142	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.24 (possibly damaging)
1	CELA1-Y5P	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	CELA1-V3Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	VDR-M1T	homozygous	0.687	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1	AKAP9-M463I	homozygous	0.376	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	AKAP9-K1335KQ	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	AKAP9-N2792S	homozygous	0.271	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	AKAP9-P2979S	homozygous	0.997	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
1	DSG2-I293V	het unknown	0.036	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	TGIF1-P83Shift	het unknown	0.139	Complex/Other pathogenic	Low clinical importance, uncertain	Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.
1	TGIF1-P292S	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	INSR-A2G	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	KCP-G1196S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	KCP-H313Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	KCP-A16Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	NEB-I6534V	homozygous	0.372	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	NEB-A6277P	homozygous	0.691	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	NEB-R4389T	homozygous	0.724	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	NEB-W3348C	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	NEB-K2613N	homozygous	0.138	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	NEB-V1491M	homozygous	0.453	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	NEB-Y1301H	homozygous	0.668	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	NEB-K1027N	homozygous	0.476	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HSH2D-S223Shift	homozygous	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	C19orf55-G398Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	CTDP1-S61A	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	CCDC66-D5Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	CCDC66-Q383R	homozygous	0.934	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	CCDC66-R460Q	het unknown	0.206	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.999 (probably damaging)
1	CCDC66-S606SS	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	C2orf83-W141*	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
1	C2orf83-E104Q	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	AX746903-T82Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ADH1B-I65T	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ADH1B-H48R	homozygous	0.678	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	ZFPM1-K431N	het unknown	0.096	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	ZFPM1-E444Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ZFPM1-L446Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	C14orf104-E62D	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	GSPT1-V100A	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	GSPT1-G92C	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
1	ZNF598-M637T	het unknown	0.601	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	ZNF598-E25G	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF598-E17A	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF598-DM13AL	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF598-G6Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ADAMTSL3-H146R	het unknown	0.706	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.04 (benign)
1	ADAMTSL3-L290V	homozygous	0.833	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	ADAMTSL3-V661L	homozygous	0.711	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	ADAMTSL3-T1660I	het unknown	0.106	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
1	NPRL3-L489Shift	homozygous	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	NR_027242-C222Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
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	ZFYVE19-R48Shift	homozygous	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ZFYVE19-S376A	homozygous	0.814	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
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	HABP2-T50M	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	BCKDHA-P39H	homozygous	0.024	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	IL13-Q144R	homozygous	0.766	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	AP1S2-T35A	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	AP1S2-R29P	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	ZNF167-N494Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	AHI1-R830W	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1	CPN2-Q509W	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	PIK3R6-L609Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
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	BLMH-I443V	het unknown	0.241	Unknown pathogenic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	AIM1-C491R	het unknown	0.181	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.091 (benign)
1	AIM1-E1196A	homozygous	0.935	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.015 (benign)
1	TTN-F33256Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview
1	TTN-V33180A	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-P32685L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-G31702V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-V30951I	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-I30146F	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-I26820T	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-I25199V	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-T24045M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-I23649T	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-S22872N	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-A19840P	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-V19783I	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-T18827I	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-N16125D	het unknown	0.469	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-E15696Q	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-E9928EE	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-R9852H	het unknown	0.198	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-G9378R	het unknown	0.395	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-I9278V	het unknown	0.450	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-N7559S	het unknown	0.231	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-S7181N	het unknown	0.232	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-A7111E	het unknown	0.421	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-E6900A	het unknown	0.226	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-D6218H	het unknown	0.233	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-S3419N	homozygous	0.850	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-V3261M	homozygous	0.840	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-S1295L	homozygous	0.881	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	TTN-K1201E	homozygous	0.519	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	F5-M1764V	het unknown	0.273	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	F5-K925E	het unknown	0.196	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	F5-H865R	het unknown	0.238	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	F5-K858R	het unknown	0.239	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	F5-Q534R	homozygous	0.991	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	SCARF2-A832G	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	SCARF2-A814G	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	SCARF2-DV772EL	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	SCARF2-E764Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	SCARF2-P747Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	SCARF2-A745Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	NR_027052-R29H	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	NR_027052-T53Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	HRNR-H2772R	het unknown	0.516	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	HRNR-L2688S	homozygous	0.939	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 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-Q519P	het unknown	0.067	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-Q376R	homozygous	1.000	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	COL18A1-A288T	het unknown	0.177	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.017 (benign), Testable gene in GeneTests
1	COL18A1-T379M	het unknown	0.325	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests
1	COL18A1-PGP1362Del	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	KRTAP7-1-Y17Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	IL6R-D358A	homozygous	0.266	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.911 (probably damaging)
1	B3GNT6-L316Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	B3GNT6-L335Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	PTPN22-W620R	homozygous	0.970	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
1	ARHGEF19-P460L	homozygous	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
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	H2BFM-Q73*	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
1	PADI6-V343Shift	homozygous	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	GSTM1-K173N	homozygous	1.000	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	DGKK-L1014Shift	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	DGKK-D719N	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	TOR1A-D216H	het unknown	0.089	Unknown protective	Low clinical importance, likely	This SNP has been shown to be benign and play a protective role against Dystonia.
1	CHIT1-A442G	het unknown	0.092	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, 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	KCNC3-D63G	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1	HADHB-T2TT	homozygous	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
1	ZNF761-L47Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ZNF761-I122S	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF761-V168I	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF761-G528S	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF761-E603Q	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	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	homozygous	0.145	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview
1	VSIG10L-Q860Shift	homozygous		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	ZNF880-N106Shift	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
1	ZNF880-N140NN	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF880-R198S	homozygous	0.354	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	ZNF880-N202H	homozygous	0.292	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
1	ZNF880-R313Q	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF880-K316R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF880-S319T	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF880-Q406R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF880-C413F	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
1	ZNF880-K471R	homozygous	0.328	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.875	BRCA2-N372H	het unknown	0.230	Recessive pathogenic	Low clinical importance, uncertain	This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.
0.875	BRCA2-V2466A	homozygous	0.954	Dominant benign	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875	BRCA2-Q2714R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75	ABCC6-R1268Q	het unknown	0.142	Unknown pharmacogenetic	Low clinical importance, uncertain	This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.
0.75	ABCC6-L946I	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75	ABCC6-M848V	homozygous	0.954	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75	ABCC6-H632Q	homozygous	0.342	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75	ABCC6-V614A	homozygous	0.354	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75	SLC2A1-D236Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview
0.75	SLC2A1-T60M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75	PRNP-M129V	het unknown	0.258	Complex/Other protective	Low clinical importance, well-established	This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru.
0.625	ASPM-R2524Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview
0.625	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	CUL7-Q813R	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PTCHD3-*768Q	het unknown	0.570	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PTCHD3-I584M	homozygous	0.963	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PTCHD3-M521T	het unknown	0.498	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PTCHD3-D473G	het unknown	0.499	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.849 (possibly damaging)
0.5	PTCHD3-C407G	het unknown	0.490	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 1.0 (probably damaging)
0.5	PTCHD3-S309Shift	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	PTCHD3-L152P	het unknown	0.225	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.995 (probably damaging)
0.5	TRERF1-D1187N	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.968 (probably damaging)
0.5	TRERF1-C834S	het unknown	0.072	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.989 (probably damaging)
0.5	SNAPC4-R729Q	het unknown	0.017	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	DAAM2-R105H	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.978 (probably damaging)
0.5	DNMBP-C1413W	het unknown	0.240	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.566 (possibly damaging)
0.5	DNMBP-M831T	het unknown	0.019	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.987 (probably damaging)
0.5	SLC34A3-G337S	het unknown	0.040	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	SLC34A3-E513V	homozygous	0.915	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	N4BP3-R317H	het unknown	0.050	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	TUBAL3-R250W	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	EXD3-R810Q	het unknown	0.017	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.973 (probably damaging)
0.5	EXD3-C545Y	homozygous	0.570	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
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	homozygous	0.677	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ECHDC3-R20C	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.961 (probably damaging)
0.5	ECHDC3-A69T	homozygous	0.836	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ECHDC3-A151T	homozygous	0.873	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MSX2-M129T	homozygous	0.716	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL17A1-D1370G	het unknown	0.257	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL17A1-M703V	homozygous	0.672	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL17A1-G428S	homozygous	0.771	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL17A1-T210M	homozygous	0.557	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CAPN11-I145Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	CAPN11-V266M	het unknown	0.162	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.013 (benign)
0.5	CAPN11-I521V	het unknown	0.230	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.061 (benign)
0.5	CAPN11-S728N	het unknown	0.336	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
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	COL11A2-P894L	het unknown	0.088	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	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
0.5	NDST2-M375V	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.945 (probably damaging)
0.5	ALDH5A1-G36R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALDH5A1-H180Y	het unknown	0.334	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALDH5A1-P182L	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CNGB3-T298P	homozygous	0.681	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5	CNGB3-C234W	homozygous	0.939	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CNGB3-N27S	het unknown	0.008	Unknown not reviewed	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	MYST4-P490S	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.968 (probably damaging)
0.5	FLT4-G1303A	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	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
0.5	GGH-T151I	het unknown	0.089	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.846 (possibly damaging)
0.5	GGH-A31T	het unknown	0.198	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	GGH-C6R	het unknown	0.088	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
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-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	CDH23-S494N	homozygous	0.273	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-N1349D	het unknown	0.772	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-A1572T	het unknown	0.720	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-V1672I	het unknown	0.133	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CDH23-T1996S	het unknown	0.248	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-F41S	het unknown	0.544	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-DQA1-E63G	het unknown	0.233	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-DQA1-A68V	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-DQA1-RW70CL	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-DQA1-EF73VL	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-DQA1-SK75RQ	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-DQA1-G79Del	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-R87T	het unknown	0.170	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-DQA1-M89I	het unknown	0.200	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-IM98SL	het unknown	0.066	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-DQA1-Y103S	het unknown	0.544	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HLA-DQA1-T130I	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	ABCC2-Y39F	homozygous	0.990	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ABCC2-V417I	het unknown	0.195	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5	TNXB-V3186I	het unknown	0.062	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TNXB-G2518E	het unknown	0.658	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TNXB-R1255H	het unknown	0.106	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TNXB-H1161R	het unknown	0.568	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HSP90AB1-R604Q	het unknown	0.020	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.888 (probably damaging)
0.5	CHAT-R375Q	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, 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	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	MICA-A47T	het unknown	0.063	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MICA-Y59C	homozygous	0.293	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MICA-Q114R	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	MICA-V152M	homozygous	0.314	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MICA-H179L	het unknown	0.033	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	MICA-E196K	homozygous	0.363	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MICA-S229G	homozygous	0.320	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MICA-R233W	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	MICA-I236T	homozygous	0.570	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MICA-T238S	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	MICA-R274Q	homozygous	0.538	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	MICA-V300Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	MICA-C329R	het unknown	0.206	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MICA-P330L	het unknown	0.262	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MDN1-I4720T	het unknown	0.035	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.017 (benign)
0.5	MDN1-R4266G	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	MDN1-A4044S	het unknown	0.656	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.035 (benign)
0.5	MDN1-S1559N	homozygous	0.846	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	MDN1-E1507V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	MDN1-I660V	het unknown	0.178	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.057 (benign)
0.5	MDN1-F440V	het unknown	0.154	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.045 (benign)
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-S2861G	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKHD1-L1870V	homozygous	0.905	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKHD1-A1262V	het unknown	0.239	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKHD1-R760C	het unknown	0.318	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	POR-A503V	het unknown	0.227	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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	het unknown	0.619	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CCM2-V53I	het unknown	0.053	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5	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	NR_024390-W43*	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	NR_024390-A104P	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	DFNB31-V783A	homozygous	0.405	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DFNB31-H752Q	homozygous	0.983	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DFNB31-M613T	homozygous	0.487	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DFNB31-R364H	homozygous	0.968	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-R304I	het unknown	0.075	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	MCPH1-D314H	het unknown	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-T682N	het unknown	0.148	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	MCPH1-A761V	homozygous	0.504	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MCPH1-P828S	homozygous	0.241	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ANKS6-P865S	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.991 (probably damaging)
0.5	ANKS6-V644I	het unknown	0.868	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CLCN1-G118W	homozygous	0.995	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CLCN1-P727L	het unknown	0.325	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	KIAA1045-S353Shift	het unknown	0.019	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	KIF4B-R580L	homozygous	0.685	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	KIF4B-Y684C	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	KIF4B-I834Shift	het unknown	0.041	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
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-S92P	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PLEC-R2969H	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PLEC-R2821W	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PLEC-S2791P	het unknown	0.272	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PLEC-A2194V	het unknown	0.210	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PLEC-H1459R	het unknown	0.512	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PLEC-R1386Q	het unknown	0.276	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PLEC-A641V	het unknown	0.210	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LAMB1-I1547T	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	LAMB1-Q1022R	het unknown	0.701	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	DOCK8-A22V	het unknown	0.291	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5	DOCK8-D63N	het unknown	0.079	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests
0.5	DOCK8-N413S	het unknown	0.193	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.19 (benign), Testable gene in GeneTests
0.5	CYP3A7-R409T	homozygous	0.669	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	TAF1L-M371V	het unknown	0.038	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.991 (probably damaging)
0.5	SLC26A3-C307W	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.924 (probably damaging), Testable gene in GeneTests
0.5	TXNDC3-C208R	homozygous	0.740	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GARS-P42A	homozygous	0.654	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SLC30A8-R325W	het unknown	0.225	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
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	SETX-I1386V	homozygous	0.494	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SETX-G1252R	homozygous	0.494	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SETX-D1192E	homozygous	0.598	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BACH2-L291V	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.98 (probably damaging)
0.5	PEX10-T274A	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.221 (possibly damaging), Testable gene in GeneTests with associated GeneReview
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	REXO4-T283A	het unknown	0.035	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.957 (probably damaging)
0.5	REXO4-R141K	het unknown	0.097	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 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	MTHFD1L-R563H	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	AK125766-L144M	het unknown	0.188	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AK125766-R117H	het unknown	0.133	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AK125766-V114I	het unknown	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-V1023A	het unknown	0.193	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-T1038A	homozygous	0.747	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-V3715L	het unknown	0.452	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-M4172V	homozygous	0.334	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-T4177I	het unknown	0.359	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH11-K4508R	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HR-Q528R	het unknown	0.062	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.293 (possibly damaging)
0.5	HR-L526P	het unknown	0.219	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	HR-C397Y	het unknown	0.042	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.928 (probably damaging)
0.5	HR-P62T	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
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	SLC22A2-S270A	homozygous	0.876	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	SYNE1-L8741M	het unknown	0.098	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
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-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	het unknown	0.539	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5	OPRM1-N40D	homozygous	0.204	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	OPRM1-Q402H	homozygous	0.882	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TRMT12-W28R	het unknown	0.615	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TRMT12-D195Shift	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	TRMT12-D195E	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.015 (benign)
0.5	UGT2B15-K523T	het unknown		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	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	USH2A-M3868V	het unknown	0.131	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	USH2A-E3411A	het unknown	0.638	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	USH2A-I2169T	het unknown	0.575	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	USH2A-I2106T	homozygous	0.629	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	USH2A-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-A125T	het unknown	0.777	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	RAB3GAP2-S1092T	het unknown	0.043	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.924 (probably damaging)
0.5	EDARADD-M9I	homozygous	0.726	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HMCN1-I2418T	homozygous	0.553	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5	HMCN1-E2893G	homozygous	0.617	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.5	HMCN1-Q4437R	homozygous	0.547	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5	TSEN15-G19D	homozygous	0.295	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.932 (probably damaging)
0.5	TSEN15-Q59H	homozygous	0.283	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.961 (probably damaging)
0.5	DUSP27-E265D	het unknown	0.785	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	DUSP27-D1067N	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.868 (probably damaging)
0.5	DUSP27-T1124N	het unknown	0.407	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.849 (possibly damaging)
0.5	SELE-S149R	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.978 (probably damaging)
0.5	TOR1AIP1-Q293H	het unknown	0.033	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.874 (probably damaging)
0.5	LAMC2-T124M	het unknown	0.076	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	LAMC2-P370L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GCKR-L446P	het unknown	0.673	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	C2orf71-S1225SS	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	C2orf71-P1089Del	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-P433S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	C2orf71-A252D	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	C2orf71-S13C	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ABCB11-V444A	homozygous	0.606	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5	LRP2-I4210L	homozygous	0.462	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.993 (probably damaging)
0.5	LRP2-K4094E	homozygous	0.744	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	LRP2-D1279A	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (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	PDE11A-S921SS	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	PDE11A-Y727C	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	PDE11A-R184Q	homozygous	0.978	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	TEKT4-N409K	het unknown	0.009	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.994 (probably damaging)
0.5	ALK-D1529E	het unknown	0.606	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALK-I1461V	homozygous	0.982	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALK-V476A	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CYP1B1-V432L	het unknown	0.547	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CYP1B1-A119S	het unknown	0.080	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CYP1B1-R48G	het unknown	0.360	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-S524SP	homozygous	0.578	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-V671G	homozygous	0.857	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ALMS1-R4029K	homozygous	0.527	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH6-V141M	homozygous	0.942	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	DNAH6-G1694A	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.026 (benign)
0.5	DNAH6-Y2119C	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.992 (probably damaging)
0.5	DNAH6-V2550A	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	USP21-P91S	het unknown	0.027	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.979 (probably damaging)
0.5	USP21-P336T	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.01 (benign)
0.5	S100A4-S32Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	S100A4-L29Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	GJB4-C169W	het unknown	0.032	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5	PPT1-I134T	het unknown	0.086	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	FAAH-P129T	het unknown	0.237	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign)
0.5	GRHL3-T454M	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	FUCA1-P10R	het unknown	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.894 (probably damaging), Testable gene in GeneTests
0.5	FUCA1-R2W	het unknown	0.079	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests
0.5	RNF207-N573S	het unknown	0.474	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	RNF207-G603A	het unknown	0.165	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.006 (benign)
0.5	MTHFR-E429A	het unknown	0.243	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.5	TNFRSF1B-M196R	het unknown	0.206	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.986 (probably damaging)
0.5	SPATA21-K361KK	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	SPATA21-P119L	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.996 (probably damaging)
0.5	CYP4A22-R126W	het unknown	0.289	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CYP4A22-G130S	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	CYP4A22-N152Y	het unknown	0.790	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CYP4A22-C231R	het unknown	0.598	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CYP4A22-P385L	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	CYP4A22-L428P	het unknown	0.297	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
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	FCGR1B-R175H	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	FCGR1B-M171K	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.987 (probably damaging)
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-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-D2936G	het unknown	0.138	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, 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-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-VG2225AV	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-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-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-S2045T	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 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-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-T454A	het unknown	0.328	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.075 (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	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	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	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	LRRIQ3-A558V	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.01 (benign)
0.5	LRRIQ3-E434K	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.955 (probably damaging)
0.5	LRRIQ3-M129I	het unknown	0.059	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.819 (possibly damaging)
0.5	RWDD3-I15V	het unknown	0.010	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.939 (probably damaging)
0.5	RWDD3-V47A	homozygous	0.945	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	RWDD3-N86K	homozygous	0.786	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	DPYD-R29C	homozygous	0.731	Complex/Other pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	COL3A1-A698T	het unknown	0.181	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL3A1-H1353Q	homozygous	0.990	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	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	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	SYNPO2-R147Del	het unknown	0.273	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SYNPO2-Q174H	het unknown	0.204	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.305 (possibly damaging)
0.5	SYNPO2-T573A	homozygous	0.829	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SYNPO2-R1009W	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.986 (probably damaging)
0.5	UFSP2-K103R	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.985 (probably damaging)
0.5	HADH-L86P	homozygous	0.859	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PDHA2-R286P	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	EVC-Q74P	het unknown	0.092	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5	EVC-D95G	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5	EVC-Y258H	het unknown	0.721	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5	EVC-T372M	het unknown	0.025	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5	EVC-T449K	het unknown	0.871	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	UGT2A1-V391I	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.032 (benign)
0.5	UGT2A1-G308R	het unknown	0.068	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.999 (probably damaging)
0.5	UGT2A1-Y192*	het unknown	0.024	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	UGT2A1-R75K	homozygous	0.998	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ENAM-P724L	het unknown	0.033	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	AFP-K187Q	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.852 (probably damaging)
0.5	DNAH5-I4450V	het unknown	0.481	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH5-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-R2501P	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DNAH5-Q2463R	het unknown	0.263	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	DNAH5-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	IL7R-I66T	het unknown	0.597	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	IL7R-V138I	het unknown	0.689	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	IL7R-I356V	het unknown	0.214	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	PCSK1-S690T	het unknown	0.218	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5	PCSK1-Q665E	het unknown	0.238	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ADRB2-G16R	het unknown	0.477	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5	ADRB2-E27Q	het unknown	0.773	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5	SH3TC2-V1158I	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	SH3TC2-A468S	het unknown	0.198	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	GPR98-L127R	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.654 (possibly damaging), 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-P1987L	het unknown	0.333	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	GPR98-Y2232C	het unknown	0.349	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	GPR98-N2345S	het unknown	0.304	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	GPR98-N2584S	het unknown	0.825	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GPR98-E3471K	homozygous	0.834	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GPR98-E3867K	homozygous	0.356	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GPR98-E5344G	homozygous	0.903	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5	GPR98-V5427M	homozygous	0.918	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GPR98-V5876I	homozygous	0.424	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	AP3B1-F887L	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	AP3B1-V585E	homozygous	0.806	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5	GHR-I544L	homozygous	0.473	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5	MOCS2-T50A	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.725 (possibly damaging), Testable gene in GeneTests
0.5	CCNO-I219Shift	het unknown	0.010	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	FAM169A-E511K	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.97 (probably damaging)
0.5	DOK7-H113P	homozygous	0.183	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DOK7-R120Q	homozygous	0.146	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DOK7-T137I	homozygous	0.177	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DOK7-R38G	homozygous	0.208	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DOK7-R38G	homozygous	0.208	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ANO10-R462Q	het unknown	0.602	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ANO10-R263H	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	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	ANO7-D70N	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.955 (probably damaging)
0.5	COL4A3-P116T	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 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-R408H	het unknown	0.064	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A3-H451R	het unknown	0.090	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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	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	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-P1330L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A4-V1327M	homozygous	0.464	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A4-P1004L	homozygous	0.528	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	COL4A4-P482S	homozygous	0.493	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SCAP-V798I	homozygous	0.289	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SCAP-C147Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	SCAP-C147Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	NCKIPSD-P551S	het unknown	0.024	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.992 (probably damaging)
0.5	RTP1-R174C	het unknown	0.024	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	RTP1-Q229E	het unknown	0.349	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
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	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-I2395F	het unknown		Unknown	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	CLCN2-E718D	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CLCN2-R688Q	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5	CLCN2-T668S	het unknown	0.378	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CLCN2-R646RR	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ALG3-F200S	het unknown	0.025	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.153 (benign), Testable gene in GeneTests with associated GeneReview
0.5	KBTBD8-F179L	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	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-G45W	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	NR_015394-F74S	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	NR_015394-T113Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	DRD3-G9S	homozygous	0.482	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	ADAMTS13-R7W	het unknown	0.062	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ADAMTS13-Q448E	homozygous	0.211	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ADAMTS13-P618A	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5	CPNE1-A402Shift	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	CPNE1-P347R	het unknown	0.084	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.384 (possibly damaging)
0.5	CPNE1-Q211R	het unknown	0.274	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ZNF224-M118V	homozygous	0.793	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	ZNF224-H162L	homozygous	0.780	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging)
0.5	ZNF224-K640E	homozygous	0.593	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	PROZ-R295H	het unknown	0.005	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.884 (probably damaging)
0.5	PLCG2-R268W	het unknown	0.033	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.95 (probably damaging)
0.5	ABCC4-G187W	het unknown	0.070	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	THSD1-R694I	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	THSD1-D491H	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.463 (possibly damaging)
0.5	HNRNPA1L2-T26Shift	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	NR_028064-G139Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	NR_028064-H49Q	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	NR_028064-H41Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	CYP2B6-Q172H	homozygous	0.295	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.009 (benign)
0.5	CYP2B6-K262R	homozygous	0.298	Unknown pharmacogenetic	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	AKAP6-E892K	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.968 (probably damaging)
0.5	SIPA1L3-T968M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	SIPA1L3-R1330L	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.959 (probably damaging)
0.5	SIPA1L3-P1450A	het unknown	0.056	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.854 (probably damaging)
0.5	MYH6-V1663I	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MYH6-DA1661ET	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PRX-G1132R	homozygous	0.978	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PRX-P1083R	het unknown	0.082	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	PRX-I921M	het unknown	0.261	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PRX-V882A	homozygous	0.493	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5	HYDIN-H4269Y	het unknown	0.124	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
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-R3747C	het unknown	0.068	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-T3115R	het unknown	0.250	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-K2529E	het unknown	0.053	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-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-Q2275R	het unknown	0.125	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.955 (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-K2143E	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.903 (probably damaging)
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-S2046T	het unknown	0.025	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.82 (possibly damaging)
0.5	HYDIN-V1717M	het unknown	0.144	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.651 (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	FAM98C-E108K	homozygous		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	FAM98C-T160I	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.993 (probably damaging)
0.5	LAMA1-L2144V	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.993 (probably damaging)
0.5	LAMA1-I2076T	het unknown	0.319	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LAMA1-K2002E	homozygous	0.691	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LAMA1-A1876T	het unknown	0.138	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LAMA1-I1659V	het unknown	0.159	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LAMA1-S1577A	het unknown	0.172	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.397 (possibly damaging)
0.5	LAMA1-M1340V	het unknown	0.203	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.942 (probably damaging)
0.5	LAMA1-N674T	homozygous	0.165	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.167 (benign)
0.5	ARL11-P131L	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.895 (probably damaging)
0.5	ARL11-C148R	het unknown	0.251	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.153 (benign)
0.5	AK094748-D110A	het unknown	0.049	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	AK094748-S209Shift	het unknown	0.019	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	ACADS-R171W	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.587 (possibly damaging), Testable gene in GeneTests
0.5	SH2B3-W262R	het unknown	0.768	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
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-H2638R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKD1-W1399R	het unknown	0.025	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
0.5	PKD1-V1005I	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	PKD1-L950P	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	CRLS1-A20T	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.012 (benign)
0.5	CRLS1-P193L	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.988 (probably damaging)
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	SACS-V3369A	homozygous	0.244	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	CACNG6-C252S	het unknown	0.034	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	FUT2-W154*	het unknown	0.364	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.5	FUT2-G258S	het unknown	0.390	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.954 (probably damaging)
0.5	CARD14-G144E	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	CARD14-Q145L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	CARD14-V585I	het unknown	0.090	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	CARD14-R682W	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	HTR2A-H452Y	het unknown	0.098	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.489 (possibly damaging)
0.5	CTNS-T260I	homozygous	0.825	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	C1QBP-T130M	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
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	AKAP11-E902G	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.952 (probably damaging)
0.5	WDHD1-P638A	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	WDR62-K771R	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	WDR62-L850S	het unknown	0.677	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	WDR62-Q1310L	homozygous	0.726	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	WDR62-G1375S	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	WDR62-L1390F	het unknown	0.736	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	JSRP1-P108L	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (probably damaging)
0.5	JSRP1-V92A	het unknown	0.193	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.6 (possibly damaging)
0.5	JSRP1-G45S	het unknown	0.075	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	NOD2-P268S	het unknown	0.105	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	NOD2-L1007Shift	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Frameshift, Testable gene in GeneTests
0.5	HEXA-I436V	homozygous	0.748	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	NR2E3-T318Shift	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift, Testable gene in GeneTests
0.5	VMAC-R109H	het unknown	0.018	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.99 (probably damaging)
0.5	SLC24A1-S332Shift	het unknown	0.019	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	GRIN3B-H117Y	het unknown	0.167	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.841 (possibly damaging)
0.5	GRIN3B-R404W	het unknown	0.360	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.976 (probably damaging)
0.5	GRIN3B-W414R	homozygous	0.681	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	GRIN3B-G466Shift	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	GRIN3B-T577M	het unknown	0.347	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	GRIN3B-A845T	het unknown	0.097	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.137 (benign)
0.5	GRIN3B-Q1006E	het unknown	0.433	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.051 (benign)
0.5	GRIN3B-P1039R	het unknown	0.122	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SLC28A1-V189I	homozygous	0.313	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	SLC28A1-Q237K	het unknown	0.241	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	SLC28A1-D521N	het unknown	0.226	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	SH2B1-T484A	het unknown	0.217	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.5	ABCA3-L316LFL	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	ABCA3-E292V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	MRPL28-H27Y	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	ATP8B1-A1152T	homozygous	0.998	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	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	DMBT1-P42T	het unknown	0.732	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.941 (probably damaging)
0.5	DMBT1-S54L	het unknown	0.692	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.84 (possibly damaging)
0.5	DMBT1-H1084Y	het unknown	0.050	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	AGBL1-R112C	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.928 (probably damaging)
0.5	AGBL1-Q1010R	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	FANCI-A86V	het unknown	0.219	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FANCI-C742S	het unknown	0.234	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	FANCI-I877L	het unknown	0.086	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	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	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	het unknown	0.910	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	GALC-T641A	homozygous	0.892	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GALC-D248N	het unknown	0.080	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.972 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	GALC-T112A	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GALC-A21P	het unknown	0.019	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.163 (benign), Testable gene in GeneTests with associated GeneReview
0.5	SPATA7-D2N	homozygous	0.155	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.665 (possibly 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	PRODH2-P91R	het unknown	0.045	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests
0.5	GPR56-S281R	het unknown	0.750	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GPR56-Q306H	het unknown	0.094	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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	NPHS1-V991L	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	NPHS1-E117K	het unknown	0.297	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5	PGLYRP2-R476W	het unknown	0.003	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	PGLYRP2-R394Q	het unknown	0.233	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.018 (benign)
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	XRCC3-T241M	homozygous	0.218	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.188 (benign)
0.5	ACTL9-R271P	het unknown	0.009	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (probably damaging)
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	COL5A3-A1488P	het unknown	0.382	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	COL5A3-R1122H	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (probably damaging)
0.5	COL5A3-R322G	het unknown	0.925	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	COL5A3-A280P	het unknown	0.159	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	COL5A3-N226Y	het unknown	0.164	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	LAMA3-P1208T	het unknown	0.042	Unknown not reviewed	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	THBS1-N700S	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (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	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	DEFB126-P106Shift	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	B4GALNT3-G59S	het unknown	0.140	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	B4GALNT3-K411R	het unknown	0.264	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.236 (possibly damaging)
0.5	B4GALNT3-R992H	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.997 (probably damaging)
0.5	BC112980-K147Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	NPAT-N999K	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.98 (probably damaging)
0.5	NPAT-V575I	homozygous	0.570	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	NSF-V361M	het unknown	0.024	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.993 (probably damaging)
0.5	PCNXL3-Q258R	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	PCNXL3-R1917Q	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.932 (probably damaging)
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	SCYL1-K632Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	SCYL1-D633Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	SCYL1-A635Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
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	NR_027444-W159Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
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	CCDC63-Y303F	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.996 (probably damaging)
0.5	KAL1-V534I	homozygous	0.543	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HYLS1-C31R	homozygous	0.322	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.5	ATM-N1983S	homozygous	0.991	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	ATM-T2921M	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DMD-R2937Q	homozygous	0.899	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	DMD-K2366Q	het unknown	0.152	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	DMD-R1745H	het unknown	0.387	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	DMD-D882G	homozygous	0.727	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	AKAP1-A18V	het unknown	0.047	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.96 (probably damaging)
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	OR10V1-Q123R	homozygous	0.963	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	OR10V1-V117A	het unknown	0.210	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	OR10V1-A67E	het unknown	0.048	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.989 (probably damaging)
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	IRF7-Q412R	het unknown	0.465	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	IRF7-D204N	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.99 (probably damaging)
0.5	IRF7-K179E	het unknown	0.473	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.137 (benign)
0.5	FRMD7-S281L	het unknown	0.077	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.265 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	F9-T194A	homozygous	0.144	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5	OPN1LW-I111V	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	OPN1LW-S116Y	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	OPN1LW-S180A	het unknown	0.229	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	OPN1LW-I230T	het unknown	0.027	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5	OPN1LW-A233S	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	OPN1LW-A298P	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MKI67-I2101T	het unknown	0.120	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.02 (benign)
0.5	MKI67-R832W	het unknown	0.031	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging)
0.5	MKI67-G216E	het unknown	0.016	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.03 (benign)
0.5	MKI67-N104S	het unknown	0.618	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.417 (possibly damaging)
0.5	AK160367-G206A	het unknown	0.045	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	AK160367-D257E	homozygous	0.676	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AK160367-M356V	homozygous	0.820	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	AK160367-V377Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	KCNE1L-P33S	het unknown	0.022	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.979 (probably damaging)
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	SLC6A5-G102S	het unknown	0.420	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SLC6A5-F124S	homozygous	0.803	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SLC6A5-A162G	homozygous	0.997	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	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	PGAM4-R86H	het unknown	0.011	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging)
0.5	ATP7A-E1350K	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	GNGT2-Q17R	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	B4GALNT2-R523W	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.99 (probably damaging)
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	ASMTL-*622Shift	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	ASMTL-R541K	het unknown	0.327	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.048 (benign)
0.5	ASMTL-A417E	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	TSEN54-E4D	homozygous	0.675	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	TSEN54-K347N	homozygous	0.430	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5	TSEN54-A437V	homozygous	0.515	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5	WNK1-T665I	het unknown	0.067	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	WNK1-T1056P	homozygous	0.838	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	WNK1-C1506S	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	WNK1-M1808I	het unknown	0.431	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-L438V	het unknown	0.344	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	HPS4-E224G	homozygous	0.779	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LIME1-P211L	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	FAM83F-G353S	het unknown	0.032	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	FAM83F-R436G	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.939 (probably damaging)
0.5	TRIOBP-P89A	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	TRIOBP-T715I	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, 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-E1372D	homozygous	0.237	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.293 (possibly damaging), 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	DNAI2-A558T	homozygous	0.674	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	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	COL6A2-G935R	het unknown	0.070	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.036 (benign), Testable gene in GeneTests with associated GeneReview
0.5	HOXC6-R67W	het unknown	0.023	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging)
0.5	KRT4-G160GAGGFGAGFGTGGFG	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.5	CHRNB1-E32G	homozygous	0.172	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	BBS10-P539L	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.19 (benign), Testable gene in GeneTests with associated GeneReview
0.5	MFSD6L-L85I	het unknown	0.041	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.914 (probably damaging)
0.5	NLRP1-R1366C	het unknown	0.085	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.159 (benign)
0.5	NLRP1-V1241L	het unknown	0.046	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	NLRP1-M1184V	het unknown	0.433	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	NLRP1-M1119V	het unknown	0.080	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	NLRP1-T995I	het unknown	0.043	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.442 (possibly damaging)
0.5	NLRP1-T878M	het unknown	0.034	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.384 (possibly damaging)
0.5	NLRP1-T782S	het unknown	0.055	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.5	NLRP1-T246S	het unknown	0.032	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.5	NLRP1-L155H	homozygous	0.120	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.064 (benign)
0.5	ST13-M297I	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.914 (probably damaging)
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	BRCA1-S1634G	homozygous	0.292	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BRCA1-K1183R	homozygous	0.302	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	BRCA1-E1038G	homozygous	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	homozygous	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	CLECL1-S52Shift	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.5	VWF-F2561Y	het unknown	0.039	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5	VWF-T1381A	het unknown	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-T789A	het unknown	0.355	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5	VWF-H484R	homozygous	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	MAPT-GT539AA	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SCN4A-N1376D	homozygous	0.604	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	SCN4A-S524G	homozygous	0.938	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	KRT14-C63Y	homozygous	0.976	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	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	LARP4-F351L	het unknown	0.007	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.99 (probably damaging)
0.5	ITGB4-L1779P	homozygous	0.486	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	MLC1-C171F	het unknown	0.095	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.04 (benign), Testable gene in GeneTests with associated GeneReview
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-N551K	homozygous	0.121	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5	LRRK2-R1398H	homozygous	0.123	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	TUBGCP6-R1763W	het unknown	0.020	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.992 (probably damaging)
0.5	TUBGCP6-V1621L	homozygous	0.998	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.5	TUBGCP6-T1377A	homozygous	0.408	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.003 (benign)
0.5	TUBGCP6-L567S	homozygous	0.860	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.012 (benign)
0.375	NAT2-I114T	het unknown	0.220	Recessive pharmacogenetic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.375	NAT2-R268K	het unknown	0.675	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	COL6A3-T3069I	het unknown	0.364	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	COL6A3-A3012P	het unknown	0.843	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	COL6A3-M2927T	het unknown	0.674	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	VGLL4-R275Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	VGLL4-I38M	homozygous	0.941	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	NDUFV2-V29A	homozygous	0.755	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	NDUFV2-T235Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Frameshift, Testable gene in GeneTests
0.25	NPC1-M642I	het unknown	0.863	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ATIC-T116S	het unknown	0.184	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign)
0.25	COG1-N392S	het unknown	0.536	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	FLNB-D1157N	het unknown	0.538	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25	FLNB-V1471M	het unknown	0.607	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.02 (benign), 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	TMEM43-K168N	het unknown	0.335	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.25	TMEM43-M179T	het unknown	0.487	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	KLF11-Q62R	het unknown	0.102	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.986 (probably damaging), Testable gene in GeneTests
0.25	DSC2-I776V	het unknown	0.223	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	POM121L4P-R209*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	POM121L4P-W232R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	NGF-R80Q	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	NGF-A35V	het unknown	0.244	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25	TYMP-S471L	het unknown	0.565	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.961 (probably damaging), 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	CBR3-C4Y	het unknown	0.391	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.002 (benign)
0.25	CBR3-V244M	het unknown	0.398	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.014 (benign)
0.25	PTK6-P77R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	PTK6-P77Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	SON-S830Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	SON-S1202L	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SON-M1502I	het unknown	0.169	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SON-R1575C	het unknown	0.721	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SON-R2416Shift	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Frameshift
0.25	KCNE1-S38G	het unknown	0.710	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25	ARSA-T391S	het unknown	0.423	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	IFI44L-H73R	het unknown	0.455	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	IFI44L-I235T	het unknown	0.190	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	IFI44L-Y291*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	CDA-K27Q	het unknown	0.190	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	NAP1L3-P224A	het unknown	0.611	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	NAP1L3-S36Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	CROCC-R7G	homozygous	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	CROCC-A355Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	FAM104B-Q80*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	FAM104B-D75N	het unknown	0.171	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	FAM104B-S61G	het unknown	0.360	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	FAM104B-I54L	het unknown	0.525	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	KCNQ4-H455Q	het unknown	0.156	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.25	SHANK3-I245T	het unknown	0.357	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	LEPR-K109R	het unknown	0.332	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.25	LEPR-Q223R	het unknown	0.569	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.25	CYP4B1-R173W	het unknown	0.184	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SELP-V640L	het unknown	0.295	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown
0.25	SELP-D603N	het unknown	0.780	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SELP-S331N	het unknown	0.228	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	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	BC127844-H23R	homozygous		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	BC127844-MG12IT	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	BC127844-M12Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	SULT1C4-D5E	het unknown	0.371	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	MCEE-R104L	het unknown	0.194	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25	MCEE-A76V	het unknown	0.177	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	MAN2B1-R337Q	het unknown	0.237	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.25	MAN2B1-T312I	het unknown	0.324	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.25	MAN2B1-L278V	het unknown	0.236	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SCN1A-A1056T	het unknown	0.806	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	DSG4-I459Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	DSG4-I644L	het unknown	0.954	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	KISS1R-L364H	het unknown	0.875	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	KCTD18-T387Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	KCTD18-A333V	het unknown	0.114	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.25	SLC3A1-F266S	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	SLC3A1-M618I	het unknown	0.406	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25	HIPK4-D430H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	HIPK4-T3Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	DNAH14-L828V	homozygous	0.710	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-K1010R	homozygous	0.617	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-R1011Q	homozygous	0.674	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-N1099Y	homozygous	0.677	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-M1110I	homozygous	0.663	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-D3393E	het unknown	0.521	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-K3474E	het unknown	0.514	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-T3496Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	DNAH14-V3627A	het unknown	0.514	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-R3670K	het unknown	0.517	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-N3969K	het unknown	0.346	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-L4096P	homozygous	0.544	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-F4244C	homozygous	0.513	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAH14-K4375N	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	FPR1-E346A	homozygous	0.800	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	FPR1-V101L	het unknown	0.336	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	FPR1-I11T	het unknown	0.831	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	MFSD4-S156Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	MFSD4-G314A	het unknown	0.343	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	AGT-M268T	het unknown	0.733	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	RYR2-Q2958R	het unknown	0.133	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	PLA2G4C-P298Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	PLA2G4C-S203P	het unknown	0.673	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PLA2G4C-P151L	het unknown	0.046	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	ATXN7-K264R	het unknown	0.103	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.949 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25	ATXN7-V862M	het unknown	0.485	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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	homozygous	0.674	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign), 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	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	GDF11-G369GNLLY	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	GDF11-C371Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	CEP290-K838E	het unknown	0.108	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SCYL2-P357L	het unknown	0.086	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.846 (possibly damaging)
0.25	SCYL2-N785Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
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	CREB3L2-Y318Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	CREB3L2-V130I	het unknown	0.831	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	CREB3L2-T100Del	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	ZNF783-G134Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	ZNF783-G135R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	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
0.25	KRT6C-R182Q	het unknown	0.281	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	LZTS1-L475V	het unknown	0.096	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.033 (benign)
0.25	LZTS1-N459Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	NOS3-D298E	het unknown	0.844	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
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	COL1A2-P549A	het unknown	0.907	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	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	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	FKBP9-R107H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	FKBP9-Y193*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	B3GALTL-E370K	het unknown	0.612	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.25	BC033456-K101E	homozygous	0.969	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	BC033456-Q54Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	BC033456-Q54Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
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	GLI3-T183A	het unknown	0.663	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ABCB1-S893A	het unknown	0.625	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 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	GTF2IRD2P1-R561*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	GTF2IRD2P1-V397A	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	GTF2IRD2P1-F47Y	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	NACAD-C1152F	het unknown	0.095	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	NACAD-D1105E	het unknown		Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	NACAD-A1100Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	NACAD-A1019V	het unknown	0.221	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.366 (possibly damaging)
0.25	NACAD-K591E	het unknown	0.544	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	NACAD-V498A	het unknown	0.308	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.25	NACAD-D438E	het unknown	0.257	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	GUSB-L649P	homozygous	0.535	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	GUSB-D152N	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
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	EPHX2-R287Q	het unknown	0.148	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 1.0 (probably damaging)
0.25	PTF1A-S263P	het unknown	0.654	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25	C10orf113-D100H	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C10orf113-R62G	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C10orf113-S22Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	USH1C-E819D	het unknown	0.408	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	MYO7A-S1666C	het unknown	0.610	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	MYO7A-L1954I	het unknown	0.552	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TH-V108M	het unknown	0.416	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	PCDH15-S19A	het unknown	0.174	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.25	CALHM1-L86P	het unknown	1.000	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	PLCE1-R548L	het unknown	0.188	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.25	PLCE1-R1575P	het unknown	0.517	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	PLCE1-T1777I	het unknown	0.342	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	PLCE1-H1927R	het unknown	0.328	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25	PDE6C-S270T	het unknown	0.419	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	MUC5AC-V52F	het unknown	0.055	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MUC5AC-S221R	het unknown	0.221	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MUC5AC-V497A	homozygous	0.977	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MUC5AC-E660G	het unknown	0.316	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MUC5AC-R677W	het unknown	0.196	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MUC5AC-P2165L	het unknown	0.025	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	MUC5AC-L3268P	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	MUC5AC-F3655S	het unknown	0.701	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MUC5AC-T3714M	het unknown	0.008	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	MUC5AC-T3867A	het unknown	1.000	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	MUC5AC-Q6036Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
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	MTMR2-K3T	het unknown	0.216	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	TMEM67-I604V	het unknown	0.710	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	NBN-E185Q	het unknown	0.338	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SLCO1B3-S112A	het unknown	0.646	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SLCO1B3-M233I	het unknown	0.659	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.131 (benign)
0.25	RP1-N985Y	het unknown	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.
0.25	RP1-C2033Y	het unknown	0.186	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25	COL2A1-T9S	het unknown	0.598	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TG-S734A	het unknown	0.698	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	TG-M1028V	het unknown	0.696	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25	TG-D1312G	homozygous	0.344	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	TG-D1838N	homozygous	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	KANK1-E432Q	het unknown	0.145	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.009 (benign)
0.25	KANK1-S464A	het unknown	0.216	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	KANK1-Y845Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	KANK1-I1055T	het unknown	0.195	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	FKTN-R203Q	het unknown	0.177	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.25	PTCH1-G1343R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	PTCH1-P1315L	homozygous	0.401	Unknown benign	Low clinical importance, uncertain	Common polymorphism, presumed benign.
0.25	DPAGT1-I393V	het unknown	0.431	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	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-P480L	het unknown	0.151	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.977 (probably damaging)
0.25	SNX19-S407G	het unknown	0.202	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SNX19-D396E	het unknown	0.151	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SNX19-G381S	het unknown	0.151	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.25	SNX19-V361L	het unknown	0.671	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	DNAI1-V335I	het unknown	0.173	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.467 (possibly damaging), 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	homozygous	0.773	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	VWDE-K964N	het unknown	0.510	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	VWDE-S607F	homozygous	0.748	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	VWDE-G340D	homozygous	0.845	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	VWDE-F292I	homozygous	0.615	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	VWDE-S142F	het unknown	0.722	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
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	GK-E485K	het unknown	0.114	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	GK-G382*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 3 Nonsense mutation, Testable gene in GeneTests
0.25	OTUD4-Y678Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	OTUD4-G333V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	GCSH-S21L	het unknown	0.750	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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	MTRR-S202L	het unknown	0.285	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	MTRR-K377R	het unknown	0.260	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	MTRR-H622Y	het unknown	0.218	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	MARVELD2-T33I	het unknown	0.454	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	MARVELD2-M345V	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	FAM20C-I320Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	FAM20C-N564D	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	FBN2-V965I	het unknown	0.714	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	APC-V1822D	het unknown	0.887	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CLCN7-V418M	het unknown	0.103	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	VCAN-G428D	het unknown	0.215	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25	VCAN-K1516R	het unknown	0.480	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	VCAN-F2301Y	het unknown	0.462	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ZNF469-S357P	homozygous	0.985	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	ZNF469-R366S	homozygous	0.801	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.133 (benign)
0.25	ZNF469-S539C	het unknown	0.018	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.774 (possibly damaging)
0.25	ZNF469-K1162E	homozygous	0.816	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.034 (benign)
0.25	ZNF469-P1420L	het unknown	0.742	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	ZNF469-A2710T	het unknown	0.054	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.036 (benign)
0.25	ZNF469-H2848R	homozygous	0.988	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	ZNF469-R3078Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	ZNF469-G3631R	het unknown	0.043	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.25	ZNF469-T3636A	homozygous	0.992	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: 0.001 (benign)
0.25	C16orf85-E145D	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	C16orf85-R98Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	C16orf85-P25R	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	JUP-M697L	het unknown	0.520	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	IQCB1-C434Y	het unknown	0.198	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25	HGD-Q80H	het unknown	0.742	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	MYH15-T1125A	het unknown	0.180	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.007 (benign)
0.25	MYH15-H504Y	het unknown	0.578	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.997 (probably damaging)
0.25	CLDN16-R55Shift	het unknown	0.172	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Frameshift, Testable gene in GeneTests
0.25	SLFN12L-Y412C	het unknown	0.804	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	SLFN12L-Y350Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	UGT2B7-E225K	het unknown		Unknown	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	TLR6-S249P	het unknown	0.855	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	SLC2A9-P350L	homozygous	0.232	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	SLC2A9-R294H	het unknown	0.296	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25	SLC2A9-G25R	het unknown	0.358	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	TNFRSF13B-P251L	het unknown	0.206	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.183 (benign), Testable gene in GeneTests with associated GeneReview
0.25	AIPL1-D90H	het unknown	0.210	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.25	TMC3-D1098N	homozygous	0.800	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	TMC3-S1044*	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Nonsense mutation
0.25	TMC3-C892Y	homozygous	0.444	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	TCOF1-A1353V	het unknown	0.194	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	COL9A1-S339P	het unknown	0.507	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	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	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	GPR111-S49P	het unknown	0.089	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	GPR111-I153L	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	GPR111-S154Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	GPR111-L256M	het unknown	0.495	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	LCA5-L24S	het unknown	0.904	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25	TEP1-S1195P	het unknown	0.703	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TEP1-R1055C	het unknown	0.631	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	SUCLA2-S199T	het unknown	0.722	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ATP7B-V1140A	het unknown	0.495	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ATP7B-R952K	het unknown	0.481	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ATP7B-K832R	het unknown	0.455	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	EYA4-G277S	het unknown	0.467	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging), 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	RSPH4A-R556H	het unknown	0.203	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25	RSPH4A-L589P	het unknown	0.707	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	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	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	SYNE2-I574T	het unknown	0.118	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.294 (possibly damaging), Testable gene in GeneTests
0.25	SYNE2-M1969T	het unknown	0.637	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.25	SYNE2-A2284V	het unknown	0.637	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.25	SYNE2-S2359N	het unknown	0.676	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.25	SYNE2-A2395T	het unknown	0.835	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	SYNE2-S2802G	het unknown	0.864	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.25	SYNE2-I2942V	het unknown	0.622	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	SYNE2-D3253H	het unknown	0.684	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.25	SYNE2-H3309R	het unknown	0.647	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25	SYNE2-W4001Q	het unknown	0.078	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	SYNE2-L5186M	homozygous	0.708	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests
0.25	DSP-R1738Q	het unknown	0.236	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.295 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25	CDAN1-R891C	het unknown	0.246	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25	CDAN1-Q596R	het unknown	0.498	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	CDAN1-Q107L	het unknown	0.175	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	TTBK2-L8P	het unknown	0.560	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	ATXN1-P753S	het unknown	0.107	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	NIPAL4-R213G	het unknown	0.505	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25	KIF6-W719R	het unknown	0.538	Unknown pharmacogenetic	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: 0.01 (benign)
0.25	PAPLN-S33G	het unknown	0.239	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PAPLN-C120Shift	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 2 Frameshift
0.25	PAPLN-H601R	het unknown	0.042	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	PAPLN-M666R	homozygous	0.516	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	PAPLN-R901G	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	PAPLN-R1166Q	het unknown		Unknown	Insufficiently evaluated	Prioritization score: 1 Polyphen 2: Unknown
0.25	PAPLN-T1174M	het unknown	0.104	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 0 Polyphen 2: Unknown
0.25	ATXN3-V212M	het unknown	0.358	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25	NHLRC1-P111L	het unknown	0.250	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 3 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25	SERPINA1-V237A	het unknown	0.293	Unknown not reviewed	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0	CLEC7A-Y238*	het unknown	0.043	Recessive pathogenic	Low clinical importance, uncertain	This variant has been found to impair homan mucosal antifungal defense and was implicated in vulvovaginal candidiasis and mucocutaneous infections in a Dutch family.
0	GUCY2D-P701S	het unknown	0.096	Recessive pathogenic	Insufficiently evaluated	Prioritization score: 2 Polyphen 2: 0.183 (benign), Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,738,087,861 bases (96.7% of callable positions, 90.6% of total positions)

Coding region coverage: 32,806,251 bases (98.8% of all genes, 99.3% 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

hu342A08 - GET-Evidence variant report

Variant report for hu342A08

Gene search

Log in