Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ZNF44_chr19_12266808_12299883	12288774	G G	GTATATAT others(43): Show GTATATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0245 a0002c0002t0002g0245	1	364	0.0028	50	c.3+5 others(63): Show c.3+5917_3+5918insTATATATATATATATATATATATATATATATA TATATATATATATATATA	ZNF44	ENSG00000197857.16	transcript	ENST00000355684.6	protein_coding	1/3			chr19	TogoVar
ZNF45_chr19_43907624_43940282	43931880	A A	ACAAACAA others(43): Show ACAAACAACAACACACCAACCCCACCCCCCCCTAACACCCCCACCCCCCC C	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	400	0.0025	50	c.-40 others(67): Show c.-400+723_-400+724insGGGGGGGGTGGGGGTGTTAGGGGGGGGT GGGGTTGGTGTGTTGTTGTTTG	ZNF45	ENSG00000124459.12	transcript	ENST00000269973.10	protein_coding	3/9			chr19	TogoVar
ZNF506_chr19_19787711_19826750	19800391	A A	AATATATA others(43): Show AATATATATATATATATTTATATATATATATATATATATATATTTATATA T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	418	0.0024	50	c.227 others(67): Show c.227-4732_227-4731insATATATAAATATATATATATATATATAT ATATAAATATATATATATATAT	ZNF506	ENSG00000081665.14	transcript	ENST00000540806.7	protein_coding	3/3			chr19	TogoVar
ZNF543_chr19_57315472_57335770	57319407	T T	TACATACA others(43): Show TACATACATATATACATATACATACATATACATACATATATATACATATA C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0003 a0010c0016t0003	a0010c0016t0003g0006 a0010c0016t0003g0006	1	460	0.0022	50	c.-14 others(61): Show c.-1447_-1446insACATACATATATACATATACATACATATACATAC ATATATATACATATAC	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1064		chr19	TogoVar
ZNF557_chr19_7064703_7092968	7090934	A A	AAGGTCAG others(43): Show AAGGTCAGGAGATCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	432	0.0023	50	c.71 others(61): Show c.7190_*7191insAGGTCAGGAGATCGAGACCAGCCTGGCTAACATG GTGAAACCCTGTCTCT	ZNF557	ENSG00000130544.12	transcript	ENST00000252840.11	protein_coding		2967		chr19	TogoVar
ZNF559_chr19_9319179_9350871	9321708	C C	CCCCCCCC others(43): Show CCCCCCCCGCCCTCCTCTCCCCCCCGCCCTCCTCCCCCCCGCCCCTCCTC T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0184 a0001c0001t0005g0184	1	394	0.0025	50	c.-27 others(61): Show c.-2726_-2725insCCCCCCCGCCCTCCTCTCCCCCCCGCCCTCCTCC CCCCCGCCCCTCCTCT	ZNF559	ENSG00000188321.14	transcript	ENST00000603380.6	protein_coding		2470		chr19	TogoVar
ZNF584_chr19_58403649_58423327	58410549	A A	ATATATAT others(43): Show ATATATATATATATATGTGTATATATATATGTATATATATGTATATATAT G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0103 a0001c0001t0003g0103	1	426	0.0024	50	c.169 others(65): Show c.169+467_169+468insATATATGTGTATATATATATGTATATATAT GTATATATATGTATATATAT	ZNF584	ENSG00000171574.19	transcript	ENST00000306910.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF618_chr9_113871309_114061593	113951551	A A	ATATGTGT others(43): Show ATATGTGTATACATGTACACATATGTGTATATATGTACACATATATATGT G	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18943.hp1 HG02165.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0049 a0001c0001t0001 a0001c0002t0049	a0001c0001t0001g0168 a0001c0002t0049g0014 a0001c0001t0001g0168 a0001c0002t0049g0014	2	264	0.0076	50	c.34- others(67): Show c.34-17565_34-17564insATGTGTATACATGTACACATATGTGTAT ATATGTACACATATATATGTGT	ZNF618	ENSG00000157657.15	transcript	ENST00000374126.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZNF619_chr3_40472122_40496053	40475228	T T	TTTTCCTT others(43): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19075.hp2 NA19007.hp2 NA19075.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0002c0002t0022 a0001c0001t0007 a0002c0002t0022	a0001c0001t0007g0003 a0002c0002t0022g0041 a0001c0001t0007g0003 a0002c0002t0022g0041	2	422	0.0047	50	c.-21 others(61): Show c.-2192_-2191insTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCC	ZNF619	ENSG00000177873.14	transcript	ENST00000432264.4	protein_coding		1893		chr3	TogoVar
ZNF624_chr17_16615734_16658850	16644597	T T	TCTTTAAG others(43): Show TCTTTAAGTAGGTTGGATGTTGTATCTGTCTGTAAGTTAAGTTTTAACTT C	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	378	0.0027	50	c.153 others(67): Show c.153+2731_153+2732insGAAGTTAAAACTTAACTTACAGACAGAT ACAACATCCAACCTACTTAAAG	ZNF624	ENSG00000197566.10	transcript	ENST00000311331.12	protein_coding	3/5			chr17	TogoVar
ZNF641_chr12_48332180_48355919	48332960	G G	GGGGGGGC others(43): Show GGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	408	0.0025	50	c.10 others(63): Show c.10012_*10013insGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCGGCCCCCC	ZNF641	ENSG00000167528.13	transcript	ENST00000547026.6	protein_coding		4219		chr12	TogoVar
ZNF641_chr12_48332180_48355919	48332960	G G	GGGGGGGG others(43): Show GGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	408	0.0025	50	c.10 others(63): Show c.10012_*10013insGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCGGCCCCCCC	ZNF641	ENSG00000167528.13	transcript	ENST00000547026.6	protein_coding		4219		chr12	TogoVar
ZNF644_chr1_90910304_91027035	90950319	G G	GGGGAGGG others(43): Show GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01099.hp2 HG01168.hp2 others(25): Show HG00738.hp2 HG01099.hp2 HG01168.hp2 HG01192.hp2 HG01261.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG02074.hp2 HG02148.hp2 HG02602.hp1 HG02683.hp1 HG02735.hp1 HG02738.hp2 HG03017.hp2 HG03239.hp2 HG03453.hp2 HG03492.hp1 HG03540.hp1 HG03831.hp1 NA18522.hp1 NA18960.hp1 NA18970.hp1 NA18973.hp1 NA18998.hp1 NA19055.hp1 NA19066.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0001 a0001c0001t0004 a0001c0001t0011	a0001c0001t0001g0034 a0001c0001t0001g0055 a0001c0001t0001g0056 others(25): Show a0001c0001t0001g0034 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0076 a0001c0001t0001g0139 a0001c0001t0001g0195 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0004g0058 a0001c0001t0011g0063	28	314	0.0892	50	c.45- others(65): Show c.45-9011_45-9010insGTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCC	ZNF644	ENSG00000122482.22	transcript	ENST00000337393.10	protein_coding	2/5			chr1	TogoVar
ZNF652_chr17_49284206_49367250	49348479	A A	AAAAAGAA others(43): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0185 a0001c0001t0004g0185	1	382	0.0026	50	c.-25 others(71): Show c.-259+13380_-259+13429dupCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTT	ZNF652	ENSG00000198740.9	transcript	ENST00000430262.3	protein_coding	1/5			chr17	TogoVar
ZNF66_chr19_20771304_20814995	20801338	C C	CATTTTAT others(43): Show CATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03516.hp2 NA19240.hp2 HG02965.hp2 HG03516.hp2 NA19240.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0014 a0008c0009t0014	a0008c0009t0014g0019 a0008c0009t0014g0019	3	398	0.0075	50	c.227 others(67): Show c.227-4469_227-4468insATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTT	ZNF66	ENSG00000160229.13	transcript	ENST00000344519.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF675_chr19_23647801_23692212	23687767	C C	CATATATG others(43): Show CATATATGTATATATGTGTATATACACACATATATGTATATATGTGTGTA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 NA18955.hp1 NA18957.hp2 others(2): Show HG00597.hp2 NA18955.hp1 NA18957.hp2 NA18990.hp1 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0015 a0001c0003t0001g0012 a0001c0001t0001g0015 a0001c0003t0001g0012	5	376	0.0133	50	c.-73 others(59): Show c.-735_-734insATACACACATATATACATATATGTGTGTATATACAC ATATATACATATAT	ZNF675	ENSG00000197372.10	transcript	ENST00000359788.9	protein_coding		556		chr19	TogoVar
ZNF705B_chr8_7921337_7957413	7955763	C C	CATATATA others(43): Show CATATATATATATATATATATATATATATATATATATATATATATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0063 a0003c0003t0002g0063	1	82	0.0122	50	c.33 others(61): Show c.3372_*3373insATATATATATATATATATATATATATATATATAT ATATATATATATATAT	ZNF705B	ENSG00000215356.4	transcript	ENST00000400120.3	protein_coding		3351		chr8	TogoVar
ZNF710_chr15_89996324_90087191	90008419	T T	TATATATA others(43): Show TATATATATATATACACATATATATATATACACATATATATATATACACA C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0039 a0001c0005t0008g0039	1	282	0.0036	50	c.-29 others(67): Show c.-29+6805_-29+6806insATATATATATATACACATATATATATAT ACACATATATATATATACACAC	ZNF710	ENSG00000140548.10	transcript	ENST00000268154.9	protein_coding	1/4			chr15	TogoVar
ZNF723_chr19_22827291_22863667	22862485	A A	ATATATAT others(43): Show ATATATATGTAATATAATATATATATTATATATATGTAATATAATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18992.hp1 NA19057.hp1 NA18943.hp2 NA18992.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	364	0.0082	50	c.40 others(61): Show c.4052_*4053insTATATATGTAATATAATATATATATTATATATAT GTAATATAATATATAT	ZNF723	ENSG00000268696.3	transcript	ENST00000600766.3	protein_coding		3819		chr19	TogoVar
ZNF765_chr19_53390149_53417009	53414435	C C	CCACACAC others(43): Show CCACACACACACACACACACACACACACACACACACACACACACACACAC A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA19010.hp1 NA18979.hp2 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0028 a0002c0002t0002 a0002c0002t0028	a0002c0002t0002g0186 a0002c0002t0028g0261 a0002c0002t0002g0186 a0002c0002t0028g0261	2	448	0.0045	50	c.53 others(61): Show c.5308_*5309insCACACACACACACACACACACACACACACACACA CACACACACACACACA	ZNF765	ENSG00000196417.13	transcript	ENST00000396408.8	protein_coding		2427		chr19	TogoVar
ZNF772_chr19_57464586_57482566	57482409	T T	TCCCCTCT others(43): Show TCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCT C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0003 a0002c0002t0004g0003	1	394	0.0025	50	c.-51 others(61): Show c.-5101_-5100insGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGG GGAGAGGGGAGAGGGG	ZNF772	ENSG00000197128.13	transcript	ENST00000356584.8	protein_coding		4844		chr19	TogoVar
ZNF772_chr19_57464586_57482566	57482415	T T	TCCCCTCT others(43): Show TCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCT C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 NA18979.hp2 HG02572.hp2 NA18979.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0003 a0002c0002t0004g0003	2	394	0.0051	50	c.-51 others(61): Show c.-5107_-5106insGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGG GGAGAGGGGAGAGGGG	ZNF772	ENSG00000197128.13	transcript	ENST00000356584.8	protein_coding		4850		chr19	TogoVar
ZNF777_chr7_149426363_149466062	149448495	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATAACTATATATAGTTATACATATAG T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0002 a0004c0010t0002	a0004c0010t0002g0063 a0004c0010t0002g0063	1	436	0.0023	50	c.108 others(69): Show c.1087+2503_1087+2504insACTATATGTATAACTATATATAGTTA TATATATATATATATATATATATA	ZNF777	ENSG00000196453.8	transcript	ENST00000247930.5	protein_coding	4/5			chr7	TogoVar
ZNF804B_chr7_88754700_89343528	88854476	T T	TTTCTTTC others(43): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCCTTT C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	166	0.0060	50	c.108 others(69): Show c.108+94392_108+94393insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTCTTTCCTTTC	ZNF804B	ENSG00000182348.7	transcript	ENST00000333190.5	protein_coding	1/3			chr7	TogoVar
ZNF804B_chr7_88754700_89343528	88877011	T T	TATATATA others(43): Show TATATATAATATATATATATATATATATATTTTTTTTTTTTGAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0089 a0002c0002t0012g0089	1	166	0.0060	50	c.108 others(71): Show c.108+116934_108+116935insATATATATATATATATATATATTT TTTTTTTTTGAAAAAAAAAATATATA	ZNF804B	ENSG00000182348.7	transcript	ENST00000333190.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF804B_chr7_88754700_89343528	88877026	A A	ATATATAT others(43): Show ATATATATATTTTTTTTTTTTTGAAAAAAAAAAAATATATATATATAATA T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0090	1	166	0.0060	50	c.108 others(71): Show c.108+116942_108+116943insTATATATATTTTTTTTTTTTTGAA AAAAAAAAAATATATATATATAATAT	ZNF804B	ENSG00000182348.7	transcript	ENST00000333190.5	protein_coding	1/3			chr7	TogoVar
ZNF804B_chr7_88754700_89343528	88877026	A A	ATATATAT others(43): Show ATATATATATTTTTTTTTTTTTGAAAAAAAAAATATATATATATATAATA T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0085 a0002c0002t0004g0085	1	166	0.0060	50	c.108 others(71): Show c.108+116942_108+116943insTATATATATTTTTTTTTTTTTGAA AAAAAAAATATATATATATATAATAT	ZNF804B	ENSG00000182348.7	transcript	ENST00000333190.5	protein_coding	1/3			chr7	TogoVar
ZNF813_chr19_53462733_53501255	53470160	T T	TCCTTCCT others(43): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC C	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18970.hp1 HG02080.hp1 NA18970.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0057 a0003c0003t0004 a0003c0003t0057	a0003c0003t0004g0061 a0003c0003t0057g0056 a0003c0003t0004g0061 a0003c0003t0057g0056	2	430	0.0047	50	c.-74 others(67): Show c.-74+2371_-74+2372insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCC	ZNF813	ENSG00000198346.11	transcript	ENST00000396403.9	protein_coding	1/3			chr19	TogoVar
ZNF827_chr4_145752627_145943823	145826765	A A	AGACAGAG others(43): Show AGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCT T	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18953.hp2 NA18986.hp1 others(2): Show NA18951.hp1 NA18953.hp2 NA18986.hp1 NA18986.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0033 a0001c0001t0003g0019 a0001c0001t0003g0027 others(2): Show a0001c0001t0001g0033 a0001c0001t0003g0019 a0001c0001t0003g0027 a0001c0001t0003g0032 a0001c0001t0003g0034	5	254	0.0197	50	c.228 others(69): Show c.2280-3290_2280-3241dupAAGATTGCGCCATTGCACTCCAGCCT GGGCAACAAGAGCAAAACTCTGTC	ZNF827	ENSG00000151612.18	transcript	ENST00000508784.6	protein_coding	7/14			chr4	TogoVar
ZNF865_chr19_55600647_55622269	55622024	G G	GTTTTGAT others(43): Show GTTTTGATTTTGTTTTTTTTTGAATGTTGATTTGTTTTTTGATTGTTTTT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0002 a0001c0001t0007g0002	1	430	0.0023	50	c.52 others(61): Show c.5226_*5227insTTTTGATTTTGTTTTTTTTTGAATGTTGATTTGT TTTTTGATTGTTTTTT	ZNF865	ENSG00000261221.5	transcript	ENST00000568956.2	protein_coding		4756		chr19	TogoVar
ZNF888_chr19_52899415_52928428	52918969	C C	CCTCCCTC others(43): Show CCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCTCCCTCTCCCTCTCCC T	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	426	0.0024	50	c.-17 others(65): Show c.-177-33_-177-32insAGGGAGAGGGAGAGGGAGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAG	ZNF888	ENSG00000213793.6	transcript	ENST00000638862.2	protein_coding	1/4			chr19	TogoVar
ZNF888_chr19_52899415_52928428	52918969	C C	CCTCTCCC others(43): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC T	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	426	0.0024	50	c.-17 others(65): Show c.-177-33_-177-32insAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAG	ZNF888	ENSG00000213793.6	transcript	ENST00000638862.2	protein_coding	1/4			chr19	TogoVar
ZNRF1_chr16_74994024_75115994	75092770	G G	GTGGGTGA others(43): Show GTGGGTGAGGGAGAGAGTTGCTACCTGGCATGGGCGGCTGAGGCTGGGAG C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0141 a0001c0001t0003g0141	1	328	0.0031	50	c.425 others(65): Show c.425-790_425-741dupGAGAGTTGCTACCTGGCATGGGCGGCTGAG GCTGGGAGCTGGGTGAGGGA	ZNRF1	ENSG00000186187.12	transcript	ENST00000335325.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNRF4_chr19_5450417_5461856	5458379	A A	ACGGCCGG others(43): Show ACGGCCGGGGGGGGGTGACCGGGGTAGCGGGCCGCGGGGAGGGAGTCGGG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	434	0.0023	50	c.15 others(61): Show c.1598_*1599insCGGCCGGGGGGGGGTGACCGGGGTAGCGGGCCGC GGGGAGGGAGTCGGGT	ZNRF4	ENSG00000105428.6	transcript	ENST00000222033.6	protein_coding		1524		chr19	TogoVar
ZP3_chr7_76419950_76447069	76423007	A A	AAGAGAGA others(43): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGA G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0382 a0001c0002t0001g0382	1	424	0.0024	50	c.-19 others(61): Show c.-1958_-1957insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGG AGAGAGAGAGAGAGAG	ZP3	ENSG00000188372.15	transcript	ENST00000394857.8	protein_coding		1942		chr7	TogoVar
ZP3_chr7_76419950_76447069	76423007	A A	AAGAGAGA others(43): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGA G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0376 a0001c0002t0001g0376	1	424	0.0024	50	c.-19 others(61): Show c.-1958_-1957insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAG AGAGAGAGAGAGAGAG	ZP3	ENSG00000188372.15	transcript	ENST00000394857.8	protein_coding		1942		chr7	TogoVar
ZP3_chr7_76419950_76447069	76433124	T T	TTTGGTTT others(43): Show TTTGGTTTTGGTTGGTTTTGGTTGGTTTTGGTTGGTTTTGGTTGGTTTTG G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01496.hp1 HG01993.hp1 others(4): Show HG00673.hp2 HG01496.hp1 HG01993.hp1 HG02559.hp2 HG04204.hp1 NA18947.hp1 NA18974.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0001 a0001c0006 a0002c0001	a0001c0006t0001 a0002c0001t0001 a0001c0006t0001 a0002c0001t0001	a0001c0006t0001g0252 a0002c0001t0001g0282 a0002c0001t0001g0283 others(4): Show a0001c0006t0001g0252 a0002c0001t0001g0282 a0002c0001t0001g0283 a0002c0001t0001g0308 a0002c0001t0001g0309 a0002c0001t0001g0310 a0002c0001t0001g0311	7	424	0.0165	50	c.535 others(65): Show c.535+142_535+143insGGTTGGTTTTGGTTGGTTTTGGTTGGTTTT GGTTGGTTTTGGTTGGTTTT	ZP3	ENSG00000188372.15	transcript	ENST00000394857.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZP4_chr1_237877404_237895922	237883753	G G	GAGAGAGA others(43): Show GAGAGAGAGGAAGAGAGAGGAAGAGAGAGGAAGAGAGAGGAAGAGAGAGG A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0367 a0001c0001t0001g0367	1	448	0.0022	50	c.139 others(67): Show c.1391-908_1391-907insTCCTCTCTCTTCCTCTCTCTTCCTCTCT CTTCCTCTCTCTTCCTCTCTCT	ZP4	ENSG00000116996.10	transcript	ENST00000366570.5	protein_coding	10/11			chr1	TogoVar
ZRANB3_chr2_135191969_135536218	135272414	C C	CTTTTTTT others(43): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0008 a0003c0004t0002g0008	1	214	0.0047	50	c.108 others(67): Show c.1087-528_1087-527insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAA	ZRANB3	ENSG00000121988.18	transcript	ENST00000264159.11	protein_coding	9/20			chr2	TogoVar
ZYG11B_chr1_52721453_52832336	52776229	A A	AAAAAAAA others(43): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0140 a0001c0001t0027g0140	1	352	0.0028	50	c.952 others(67): Show c.952-3623_952-3622insAAAAAAAAAATATATATATATATATATA TATATATATATATATATATATA	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52776229	A A	AAAAAAAA others(43): Show AAAAAAAAAATATATACATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0169 a0001c0001t0040g0169	1	352	0.0028	50	c.952 others(67): Show c.952-3623_952-3622insAAAAAAAATATATACATATATATATATA TATATATATATATATATATATA	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
A3GALT2_chr1_33301766_33326098	33325114	A A	ATCCATTA others(44): Show ATCCATTATTTCTTTTAGTCCTCATAACCACGCCTTGAGGAAGGCGCTGC TG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0150 a0001c0001t0000g0150	1	418	0.0024	51	c.-40 others(62): Show c.-4067_-4017dupCAGCAGCGCCTTCCTCAAGGCGTGGTTATGAGGA CTAAAAGAAATAATGGA	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding		4017		chr1	TogoVar
AARSD1_chr17_42945526_42969454	42967307	T T	TAATATGT others(44): Show TAATATGTATCATATATAATTTATATATTATATATTTTAAATATATAATT TA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	324	0.0031	51	c.-28 others(62): Show c.-2868_-2867insTAAATTATATATTTAAAATATATAATATATAAAT TATATATGATACATATT	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding		2854		chr17	TogoVar
ABAT_chr16_8669617_8789570	8737981	G G	GAAGAAAG others(44): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAA GA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0295 a0001c0001t0002g0295	1	362	0.0028	51	c.70+ others(66): Show c.70+2175_70+2176insAAAGAAAGAAAGAAAGAAAGAAAGAAGAAA GAAAGAAAGAAAGAAAGAAAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGAAGA others(44): Show GAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0309 a0002c0002t0003g0309	1	362	0.0028	51	c.70+ others(66): Show c.70+2181_70+2182insAGAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8738016	G G	GAAAGAAA others(44): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AA	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0194 a0002c0005t0004g0194	1	362	0.0028	51	c.70+ others(66): Show c.70+2207_70+2208insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15			chr16	TogoVar
ABCA10_chr17_69143007_69233824	69177971	A A	ATATATAT others(44): Show ATATATATATATATATATATGTTATATATATATATATATATATATGTTAT AT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18956.hp1 NA18951.hp1 NA18956.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0015 a0002c0002t0001g0062 a0002c0002t0001g0015 a0002c0002t0001g0062	2	348	0.0058	51	c.277 others(70): Show c.2770-2459_2770-2458insATATAACATATATATATATATATATA TATAACATATATATATATATATATA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	22/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69177971	A A	ATATATAT others(44): Show ATATATATATATATATATATGTTATATATATATATATATATATGTTATAT AT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01433.hp1 NA20129.hp1 HG01361.hp1 HG01433.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0076 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0076	3	348	0.0086	51	c.277 others(70): Show c.2770-2459_2770-2458insATATATAACATATATATATATATATA TATAACATATATATATATATATATA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	22/38			chr17	TogoVar
ABCA1_chr9_104776006_104933155	104862689	C C	CCCACCCC others(44): Show CCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCC CA	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18955.hp2 HG06807.hp1 NA18955.hp2	a0006 a0017 a0006 a0017	a0006c0004 a0017c0034 a0006c0004 a0017c0034	a0006c0004t0011 a0017c0034t0001 a0006c0004t0011 a0017c0034t0001	a0006c0004t0011g0269 a0017c0034t0001g0300 a0006c0004t0011g0269 a0017c0034t0001g0300	2	318	0.0063	51	c.422 others(66): Show c.422-890_422-889insTGGGGGTGGGGGTGGGGGTGGGGGTGGGGG TGGGGGTGGGGGTGGGGGTGG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA5_chr17_69239311_69332133	69303785	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0050 a0001c0008t0001g0050	1	350	0.0029	51	c.931 others(66): Show c.931-880_931-879insATATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTTT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar

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