Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
ABT1_chr6_26591953_26605739	26598400	G G	T T	stop_gained stop_gained	HIGH	NA19076.hp2 NA19076.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0001 a0003c0008t0001g0001	1	410	0.0024	0	c.574 others(3): Show c.574G>T	p.Gly others(4): Show p.Gly192*	ABT1	ENSG00000146109.5	transcript	ENST00000274849.3	protein_coding	3/3	604/2943	574/819	192/272		chr6	TogoVar
ACBD5_chr10_27190214_27245797	27205232	G G	T T	stop_gained stop_gained	HIGH	NA19076.hp1 NA19076.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0323 a0006c0011t0001g0323	1	384	0.0026	0	c.142 others(4): Show c.1421C>A	p.Ser others(4): Show p.Ser474*	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	11/13	1530/3903	1421/1578	474/525		chr10	TogoVar
ACE2_chrX_15556033_15605960	15561936	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0086 a0003c0005t0003g0086	1	264	0.0038	1	c.238 others(5): Show c.2386dupC	p.Gln others(5): Show p.Gln796fs	ACE2	ENSG00000130234.13	transcript	ENST00000252519.8	protein_coding	18/18	2435/3339	2386/2418	796/805		chrX	TogoVar
ACE2_chrX_15556033_15605960	15564088	CA CA	C C	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0086 a0003c0005t0003g0086	1	264	0.0038	-1	c.224 others(5): Show c.2244delT	p.Val others(5): Show p.Val749fs	ACE2	ENSG00000130234.13	transcript	ENST00000252519.8	protein_coding	17/18	2293/3339	2244/2418	748/805		chrX	TogoVar
ACE2_chrX_15556033_15605960	15564106	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0086 a0003c0005t0003g0086	1	264	0.0038	-1	c.222 others(5): Show c.2226delG	p.Trp others(5): Show p.Trp742fs	ACE2	ENSG00000130234.13	transcript	ENST00000252519.8	protein_coding	17/18	2275/3339	2226/2418	742/805		chrX	TogoVar
ACE2_chrX_15556033_15605960	15564137	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0086 a0003c0005t0003g0086	1	264	0.0038	-1	c.219 others(5): Show c.2195delG	p.Gly others(5): Show p.Gly732fs	ACE2	ENSG00000130234.13	transcript	ENST00000252519.8	protein_coding	17/18	2244/3339	2195/2418	732/805		chrX	TogoVar
ACE2_chrX_15556033_15605960	15566331	AT AT	A A	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0086 a0003c0005t0003g0086	1	264	0.0038	-1	c.203 others(5): Show c.2035delA	p.Ile others(5): Show p.Ile679fs	ACE2	ENSG00000130234.13	transcript	ENST00000252519.8	protein_coding	16/18	2084/3339	2035/2418	679/805		chrX	TogoVar
ADAM33_chr20_3662975_3687010	3668985	ATCTGGAC others(1): Show ATCTGGACT	A A	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00597.hp1 HG00639.hp2 others(43): Show HG00408.hp1 HG00597.hp1 HG00639.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01891.hp2 HG01952.hp1 HG01993.hp2 HG02027.hp2 HG02055.hp1 HG02129.hp2 HG02148.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG03195.hp1 HG03669.hp2 HG03834.hp2 HG04115.hp1 HG04228.hp2 NA18939.hp1 NA18948.hp2 NA18949.hp1 NA18959.hp1 NA18961.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18971.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA19005.hp2 NA19006.hp2 NA19054.hp2 NA19055.hp1 NA19076.hp2 NA19080.hp1 NA19086.hp2 NA20300.hp2	a0000 a0000	a0000c0003 a0000c0009 a0000c0010 others(9): Show a0000c0003 a0000c0009 a0000c0010 a0000c0013 a0000c0024 a0000c0029 a0000c0035 a0000c0037 a0000c0039 a0000c0042 a0000c0043 a0000c0045	a0000c0003t0007 a0000c0003t0008 a0000c0003t0032 others(14): Show a0000c0003t0007 a0000c0003t0008 a0000c0003t0032 a0000c0009t0007 a0000c0010t0008 a0000c0010t0031 a0000c0013t0012 a0000c0013t0021 a0000c0013t0036 a0000c0024t0008 a0000c0029t0022 a0000c0035t0012 a0000c0037t0007 a0000c0039t0007 a0000c0042t0007 a0000c0043t0007 a0000c0045t0034	a0000c0003t0007g0058 a0000c0003t0007g0095 a0000c0003t0007g0096 others(36): Show a0000c0003t0007g0058 a0000c0003t0007g0095 a0000c0003t0007g0096 a0000c0003t0007g0097 a0000c0003t0007g0140 a0000c0003t0007g0197 a0000c0003t0007g0241 a0000c0003t0007g0249 a0000c0003t0007g0255 a0000c0003t0007g0270 a0000c0003t0008g0005 a0000c0003t0008g0198 a0000c0003t0008g0214 a0000c0003t0008g0215 a0000c0003t0008g0240 a0000c0003t0008g0245 a0000c0003t0032g0295 a0000c0009t0007g0007 a0000c0009t0007g0072 a0000c0009t0007g0090 a0000c0009t0007g0111 a0000c0009t0007g0252 a0000c0010t0008g0039 a0000c0010t0008g0060 a0000c0010t0008g0345 a0000c0010t0008g0351 a0000c0010t0031g0362 a0000c0013t0012g0201 a0000c0013t0012g0262 a0000c0013t0021g0065 a0000c0013t0036g0064 a0000c0024t0008g0050 a0000c0029t0022g0147 a0000c0035t0012g0206 a0000c0037t0007g0110 a0000c0039t0007g0303 a0000c0042t0007g0360 a0000c0043t0007g0361 a0000c0045t0034g0348	46	462	0.0996	-8	c.241 others(17): Show c.2412_2419delAGTCCAGA	p.Gln others(5): Show p.Gln804fs	ADAM33	ENSG00000149451.19	transcript	ENST00000356518.7	protein_coding	22/22	2425/3436	2412/2442	804/813		chr20	TogoVar
AGAP5_chr10_73669295_73703109	73674703	G G	A A	stop_gained stop_gained	HIGH	HG00544.hp1 HG02074.hp2 HG02258.hp2 others(11): Show HG00544.hp1 HG02074.hp2 HG02258.hp2 NA18612.hp2 NA18946.hp2 NA18961.hp1 NA18965.hp2 NA18971.hp1 NA18987.hp2 NA19001.hp1 NA19012.hp2 NA19057.hp2 NA19076.hp2 NA19078.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0002 a0004c0004t0001 a0004c0004t0002	a0004c0004t0001g0214 a0004c0004t0002g0008 a0004c0004t0002g0022 others(7): Show a0004c0004t0001g0214 a0004c0004t0002g0008 a0004c0004t0002g0022 a0004c0004t0002g0044 a0004c0004t0002g0045 a0004c0004t0002g0046 a0004c0004t0002g0047 a0004c0004t0002g0048 a0004c0004t0002g0049 a0004c0004t0002g0050	14	368	0.0380	0	c.195 others(4): Show c.1957C>T	p.Arg others(4): Show p.Arg653*	AGAP5	ENSG00000172650.15	transcript	ENST00000374094.9	protein_coding	8/8	2311/2719	1957/2061	653/686		chr10	TogoVar
AGAP6_chr10_49983406_50015499	49988921	AC AC	A A	frameshift_variant frameshift_variant	HIGH	HG00140.hp2 HG00544.hp1 HG00733.hp1 others(17): Show HG00140.hp2 HG00544.hp1 HG00733.hp1 HG01123.hp1 HG02135.hp2 HG02896.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03471.hp1 HG03471.hp2 HG04115.hp2 NA18522.hp2 NA18906.hp2 NA18948.hp2 NA18989.hp1 NA19009.hp1 NA19076.hp2 NA19091.hp1 NA21309.hp1	a0004 a0004	a0004c0004 a0004c0026 a0004c0027 a0004c0004 a0004c0026 a0004c0027	a0004c0004t0004 a0004c0026t0004 a0004c0027t0011 a0004c0004t0004 a0004c0026t0004 a0004c0027t0011	a0004c0004t0004g0004 a0004c0004t0004g0042 a0004c0004t0004g0043 others(9): Show a0004c0004t0004g0004 a0004c0004t0004g0042 a0004c0004t0004g0043 a0004c0004t0004g0126 a0004c0004t0004g0127 a0004c0004t0004g0128 a0004c0004t0004g0129 a0004c0004t0004g0131 a0004c0004t0004g0132 a0004c0004t0004g0133 a0004c0026t0004g0130 a0004c0027t0011g0195	20	406	0.0493	-1	c.208 others(4): Show c.208delC	p.Arg others(4): Show p.Arg70fs	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	1/8	518/2684	208/2061	70/686	INFO_REALIGN_3_PRIME	chr10	TogoVar
AGTR2_chrX_116165744_116179974	116172296	AC AC	A A	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0013 a0005c0006t0013	a0005c0006t0013g0010 a0005c0006t0013g0010	1	332	0.0030	-1	c.19d others(3): Show c.19delC	p.Ala others(3): Show p.Ala8fs	AGTR2	ENSG00000180772.8	transcript	ENST00000371906.5	protein_coding	3/3	187/2862	19/1092	7/363	INFO_REALIGN_3_PRIME	chrX	TogoVar
AGTR2_chrX_116165744_116179974	116172512	GT GT	G G	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0013 a0005c0006t0013	a0005c0006t0013g0010 a0005c0006t0013g0010	1	332	0.0030	-1	c.235 others(4): Show c.235delT	p.Ser others(4): Show p.Ser79fs	AGTR2	ENSG00000180772.8	transcript	ENST00000371906.5	protein_coding	3/3	403/2862	235/1092	79/363	INFO_REALIGN_3_PRIME	chrX	TogoVar
AGTR2_chrX_116165744_116179974	116172529	CT CT	C C	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0013 a0005c0006t0013	a0005c0006t0013g0010 a0005c0006t0013g0010	1	332	0.0030	-1	c.251 others(4): Show c.251delT	p.Phe others(4): Show p.Phe84fs	AGTR2	ENSG00000180772.8	transcript	ENST00000371906.5	protein_coding	3/3	419/2862	251/1092	84/363	INFO_REALIGN_3_PRIME	chrX	TogoVar
AGTR2_chrX_116165744_116179974	116172723	AC AC	A A	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0013 a0005c0006t0013	a0005c0006t0013g0010 a0005c0006t0013g0010	1	332	0.0030	-1	c.447 others(4): Show c.447delC	p.Leu others(5): Show p.Leu151fs	AGTR2	ENSG00000180772.8	transcript	ENST00000371906.5	protein_coding	3/3	615/2862	447/1092	149/363	INFO_REALIGN_3_PRIME	chrX	TogoVar
AGTR2_chrX_116165744_116179974	116172737	CA CA	C C	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0013 a0005c0006t0013	a0005c0006t0013g0010 a0005c0006t0013g0010	1	332	0.0030	-1	c.460 others(4): Show c.460delA	p.Arg others(5): Show p.Arg154fs	AGTR2	ENSG00000180772.8	transcript	ENST00000371906.5	protein_coding	3/3	628/2862	460/1092	154/363	INFO_REALIGN_3_PRIME	chrX	TogoVar
AGTR2_chrX_116165744_116179974	116172945	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0013 a0005c0006t0013	a0005c0006t0013g0010 a0005c0006t0013g0010	1	332	0.0030	-1	c.668 others(4): Show c.668delC	p.Pro others(5): Show p.Pro223fs	AGTR2	ENSG00000180772.8	transcript	ENST00000371906.5	protein_coding	3/3	836/2862	668/1092	223/363	INFO_REALIGN_3_PRIME	chrX	TogoVar
AGTR2_chrX_116165744_116179974	116173245	G G	GA GA	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0013 a0005c0006t0013	a0005c0006t0013g0010 a0005c0006t0013g0010	1	332	0.0030	1	c.968 others(4): Show c.968dupA	p.Asn others(5): Show p.Asn323fs	AGTR2	ENSG00000180772.8	transcript	ENST00000371906.5	protein_coding	3/3	1137/2862	969/1092	323/363	INFO_REALIGN_3_PRIME	chrX	TogoVar
AGTR2_chrX_116165744_116179974	116173303	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0013 a0005c0006t0013	a0005c0006t0013g0010 a0005c0006t0013g0010	1	332	0.0030	-1	c.102 others(5): Show c.1026delG	p.Arg others(5): Show p.Arg344fs	AGTR2	ENSG00000180772.8	transcript	ENST00000371906.5	protein_coding	3/3	1194/2862	1026/1092	342/363	INFO_REALIGN_3_PRIME	chrX	TogoVar
AGTR2_chrX_116165744_116179974	116173328	CG CG	C C	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0013 a0005c0006t0013	a0005c0006t0013g0010 a0005c0006t0013g0010	1	332	0.0030	-1	c.105 others(5): Show c.1050delG	p.Ser others(5): Show p.Ser352fs	AGTR2	ENSG00000180772.8	transcript	ENST00000371906.5	protein_coding	3/3	1218/2862	1050/1092	350/363	INFO_REALIGN_3_PRIME	chrX	TogoVar
ALPK2_chr18_58476247_58634091	58504039	C C	A A	stop_gained stop_gained	HIGH	NA19076.hp2 NA19076.hp2	a0044 a0044	a0044c0060 a0044c0060	a0044c0060t0003 a0044c0060t0003	a0044c0060t0003g0205 a0044c0060t0003g0205	1	320	0.0031	0	c.613 others(4): Show c.6139G>T	p.Glu others(5): Show p.Glu2047*	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	11/13	6487/7437	6139/6513	2047/2170		chr18	TogoVar
ANK1_chr8_41648225_41802622	41717010	G G	GTGCCCGG others(13): Show GTGCCCGGCTCTGGCTGCCAT	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0015 a0015	a0015c0053 a0015c0053	a0015c0053t0002 a0015c0053t0002	a0015c0053t0002g0263 a0015c0053t0002g0263	1	278	0.0036	20	c.132 others(29): Show c.1327_1346dupATGGCAGCCAGAGCCGGGCA	p.His others(5): Show p.His449fs	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	13/43	1430/8292	1346/5643	449/1880		chr8	TogoVar
ANKRD36C_chr2_95844548_95996824	95894704	ATCAACAA others(5608): Show ATCAACAAAACATGTATCTCTGATGCCTAATAGTAACAAAGAGGAGTAAT GAGTCATTGTGTTTTTATGCCAATTCAAGAAATGTTTCCTGCTTCCAGAA ATTGCTGGAGCTGCCAAAATCAAATATTGTTTATGGAAATGTTCCAAATG ATCTGAAGTGAGTTCACTCAGGTTTCCTCAGCAGTAACCCCAAAATTATA TAAATGACTTCCTCTTTTCCCACCTTCCTGCCTCACAATCCGTCTTCATT CGGAAAATAATTGCTACATCAGGGGTCTCCTCAGTTCTCCTTCTACAGTG TCTACGGCTTATTATGAACAGTTTTCTGTCTGTTTTTAGCACTATCATGT GACATCTGTAAAATCTGTACTTCCTCTCTTTCTCCTTACACCCTTAATGA AAAGATGCTCCAGAAATAAAGCAAAATTATGCTGTGCCCAAGAGCCCCTT ATGTCTTCAACTGCTCTCCATATTTCTTCCTCCCAATTGCAATGTGGGGA TGTGTATAATCTTACAGCAAAGATCATGTTCCAGACCAGCAGCATCAGCA TAACCCAAGAACTTATTAGAAATGAAGAATCTCAGGCCTACTGAATCAGA ATGTGCAGTTTCGACCAGCCCCCCACTGATTTATTCGGGGAAGAGAACTT CTTATCTGGACTGAACATGACATTAAATGTGTTTTGCAAAGTTACCTGTC CTAGATGTTTCTCCATCCTTTCTTTCTCTGGTTATATTTGAAAAAGAATC TTTCTCATCACTTGTAGCCTGAATGGAATTTGAAACAAAATAATAAATAA GGTATGTTTCATAGGCTTTACATTTACTAGCTCACAATATAAATGAGAGT TTTATTACCTTCAAGGCTGCTTTTTTCCGAGAAGACACTGAAAAGCAAAA GGGATACATAATCACTCACATGTAAATATGATAAAGTTATCCATACATTC ACACAGTGTTAGCATCAACCTCTGTCCTCCTGCCTGTATTAGTGGAGGCT TTCATGGCTTCTACTTTGTCTCAGGGGACCAGAAGGTGACAGAAATACAC TGAAAAAAGGGAACACAGGCTCCATGAAATATACCCTTACAATTTCAAAC ATGGTATGATTTGTCATGTGTCGAAACCCAAAATAAAACCGTGTCAATAT CAATGTGGATATGATGAGCGATGAGGACAAATGTGATCTGAAAACAGAGG AGCAACTCATACACGTGAGAATCAATGTCAAAACAGGTGCTACATGATCC CACATGTCTTTCATGCAACAAATCAAAAGGATTTACACCATTATACTAAA AACATTCATCATGCTCTTTAACTTGCCCAATAACTGAGAAGGCACACAAT TACGATGACACTCCAGCTGAACGTACACTTAACATATCTTCAGTGGAAGT GTCCTGAATTGATCACCTTGGATATCTGTTTGCTGATACCTAGTAGATAA TATTCATTATCTCTCACACCCATGTAGTGTAATAATTTGCCTAAGTTTCA TGTATCCACTAGTTTAGGCTTCCGAAAGTTTCTTCATCCACTCTTGGCAC CAAAGGATAATATATTAGCCTCAATAAAAATATCATCAATTGTCAACTTT GACATACTTCTACAAAGTCAAATGGCTACAAGCATTAGATATTAATCAGT TTTTCATTCAGAAATCACTGCAATATTCATTGAAAATGACCATTTTAGGA GTTAGTTAGAATTCAACATCATTCTTGTGTCTAAAATACTCTTGTTGGGA GTATCGTGTTATTCTCTAAAGAAGTCTCATTAAATAGCTATTTTATCCAA GAGGTAGCTCCTTGAACAAGGAAGCAAATTTATTCATATTCAAGATTATC TCATTTTTATAACTAAAATCAACAAAACATGTATCTCTGATGCCTCCTAG TAACCAAGAGGAGTAATGAGTCAGTGTGGTGGTGTATTCCAATTATACCA TTGTTTCCTGCTTCCAGTAGTTCCTGGAGCAGCCAAAATAAAATATTTGT TATGAAAATATTCCAAATGCATCTGAAGTGAGTTCACTCAGGTTTTCTCA GCAGAAACCCCAAAATTATATAAATGACTTCCTCTTTTCACACCTTCCTG CCTCACAATCCATCTCCCTTAGGAAAATAGTTGCTACACCAGGGGTCTCC TTAGTTCTCCTAACAGTGTCTACGGGTTGTTACAACAAGCTTTCTGTCTT TTCTTGGCAGTACGATCTGAAGTGTGTAAATTCTATACTTCCTCTCTTTC TCCTTCCACCCTTACTGAAAACAAGCTGGAGAATTAAAGCAAAATTATGT TGTTCCCCAGAGCCCCTTATGCCTTGAACTGCTCTCCATATTTCTTCTTC CCAATTTCAATATGGGGAAGTGTATAATCTTACGGCGAAGATCACGTTCC AGACCAGCAGCATCATCATCACCCACAAACTTATTTGAAATGAAGAATCT CAGGACTGCTGAATCAGAATGTGCAGCTTCAACGAGCCCCCCGCTGATTT ATTCACGGAAGAGAATTTCTTATCTATCTGGACTGAACATGACATTAAAT CTCTTTTCAAAATTACCTCTCCTAGTTTTTTCTCCATGCTTTTTTCCTCT GGCTATATTCAAAAGAGAATCTTTCTCATCTCTTGTAGCCTGAATGGAAT TTGAAATGAAATAATAAATTAATAAAGTATGTTTCATAGACTATACATTT ACTAGTTCACAATATAAATGACAGTTTCATTACCTTCAAGCCTGGTGGTT GCTCAGAAGACACTGAAAAGTAAAAGGGATTCATAATCACTCATATGTAA AAATGACAAAATTATCCACATATTCATGCAGTGTTAGCATCAACCTCCGT CCTCCTGCCTGTATTAGCGTAGGCTTTGATGGCTTCTACTTTGTGTCTGG GGACTAGAACATGACAGAAATATGCTGAGAAAAGGGAATACAGGCTCCAC GAAATATAGTCTTAGAATTTCAAACATGGTATGATTTGTCATATGCCAAA AACTAAAATAAAACCATGTCAATATCAACGTGGATATGCCGAGTGATGAG GTCAAAGTGATCTAAAATCAGAGGAGCAACACATACACCTGAGAATCAAT GTCAAAGCAGGTGCTACATGATCCCACTTACCTTTCATGCAACAAATTAA AAGGATTTACACCATTATAATACAAACATTCATCGTGCTCTTTAACTTGC CCAATAACTGAGAAGGCACACAATTACGACGACAATTCAGTTGAACGTAC ACTTCACATCACTTCAGTGGAAGTGTGCTAAATTAATCACCTTGGATATC TGTTTGCTGATACCTAGTAGATAATATTCATTATCTCTCTCAACCATATG GTGTAATAATCTGCCTAAGTTTCTTGTATCCACTAGTTTAGCCTTCCGAA AGTTTCTTCATCCAGTCGTGGCAACAAAGGATAATATATTAGCCTCAATA AAAATATCATCAATTATCAATTTTGACATACATATACAAAGTAAAACTGC TGCAAGCATTAGATATTGATCAGTTTTTCATTCAGAAATCAGTGCAATAT TCATTGAAAATGACCATTTTAGGAGTTAATTAGAATCCAGCATAATTTTT GTTTCTAAAATAGCCTTGTTGGGAGTATCATGTTGTTCTCTAAAGAAGTT TCATGAAATAGCTATTGTATCCAAGAGGTAGCTCCTTGAACAAGGAAGCC AATGTATTCAGATTCAACTTTGTCTCATTTCTGTAACTAAAATCAACAAA ACATGTATCTCTGATGCCTAATAGTAACAAAGAGGAGTAATGAGTCAGTG TGTGTGTTTTTATGCCAATTCTAGGATTGTTTCCTTCTTCCAGCAGTTCC TGCAGCAGCCAAAATCAAGTATTTTTTATTAAAATATTCCAAATGCATCT GAAGTGAGTTCACTCAGGTTTCCTCAGCGGAAACCCCAAAATTATATAAA TGACTGCCTCTTTTCACACCTTCCTGCCTCACAATCCGTCATCCTTGGGA AAATGATTGCTACACCAGGGGCCTCCTTAGTTCTCCTACAGTGTATATGG GTTATTACAACAAGTTTTCTGTCTGTTCTTAGCAGTACGATGTGACATCT GTAAAATCGATACTTCCTCTCTTTCTCCTTCCACCCTTACTGAGAACAAG CTGGAGAATTAAAGCAAAACTATGCTGTTCCCCAGAGCCCCTTATGTCTT CAACTGCTCTCCATATATCTTCTTCCCAACTTCAATGTGGGGAACTGTAT AATCTTACAGCCAAGGTCATGTTCCAGACCAGCAGCATCAGCATCACCCA AGAACTTACTACAAATGAAGAACCTCCAGCCTGCTGAATCAGGAAGTGCA GCTTCGACGAGCCCCCCGCTGATTTATTTGGGGAAGGGGACTTCTTATCT ATCTGGACTGAACATGACATTAAATCTGTTTTCAAAATTACCTGTTCTAG ATTTTTCTCCATCCTTTTTTTCTCTGGCTATATTCAAAACAGAATCTTCC TCGTCACTTGTAGCCTGAATGGAATTGGAAATGAAATAATAAATAAAATA TGTTTCATAGACCATACATTAACTCGTTCACAATATAAATGAGAGTTTCA TTACCTTCAAGGCTGGTGGTTTCTGAGAAGACACTGAAAAGCAAAAGGGA TTCATAATCACTCATATGTAAATATGACAAAGATATCCATACATTCATGC AGAGTTAGCATCATACTCTGTCCTCCTGCGTGTATTAGCGCAGGCTTTGA TGGCTTCTACTTTGTGTCTGGGGACTAGAACATGACAGAAATACACTGAG AAAAGGGAATACAGGCTCCATGAAATATGCCCTTGCAATTTCAAACATGG TACGATTTCTCATATGTCAAAAACTAAACTAAAACCGTGTCAATCTCAAT GTGCATAGGCCGAGTGATGAGAACAAATGTGATCTAAAATCAGAGGAGCA ACTCACACACCTGAGAATCAATGTCAAAGCAGGTGCTACATGATCCCATA TTTCTTTCATGCAACAAATCAAAAGGATTTACACCATTATACTAAAAACA TTCATCATGCTCTTTAAATTGCCAATAACTGAGAAGGCACACAATTGCAA TGATACTTCAGTTAAACTTACACTTCACATCTCTTCAGTGGAAGAGTCCT GAATTGATCACATTGGACACCTGTTTGCTGATACCTAGTAGATAATATTC ATTATCTCTCACACCCATGTGGTATAAAAATTTGCTTAAGTTTCTTGTAT CCACTAGTTTAGCCTTCCAAAAGTTTCTTCATCCACTCATGGCACCAAAG GATAATATATTAGCCTCAATAAAAATATCATCAATTATCAATTTTGACAT ACTTCTACAAAGTAAACCTGCAGCAAGCGTTAGATATTGAGCAGTTTTTC ATTCAGAAATCACTGCAATATTCATTGAAAATGACCATTTTAGGAGTTAA TTAGAATTCAACATAATTTTTGTTTCTAAAACATGATACTTCTTGGGAGT ATCATGTTAGTCTCTAAAGAAGTTTCATGAAATAGCTATTTCACCCAAGA GGTAGCTCCTGGAACAAGGAAGCCAATGTATTCATATTCAAGTTTATCTC ATTTTTATAAGTAAAG	A A	exon_loss_variant exon_loss_variant	HIGH	NA19062.hp2 NA19076.hp1 NA19062.hp2 NA19076.hp1	a0018 a0018	a0018c0027 a0018c0027	a0018c0027t0001 a0018c0027t0001	a0018c0027t0001g0026 a0018c0027t0001g0073 a0018c0027t0001g0026 a0018c0027t0001g0073	2	298	0.0067	-5615	c.336 others(17): Show c.3367+696_3673+694del		ANKRD36C	ENSG00000174501.15	transcript	ENST00000295246.7	protein_coding	62/88					chr2	TogoVar
ARHGAP4_chrX_153902378_153931264	153907856	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0014 a0014	a0014c0022 a0014c0022	a0014c0022t0001 a0014c0022t0001	a0014c0022t0001g0108 a0014c0022t0001g0108	1	308	0.0033	1	c.271 others(5): Show c.2713dupC	p.Arg others(5): Show p.Arg905fs	ARHGAP4	ENSG00000089820.17	transcript	ENST00000350060.10	protein_coding	22/22	2775/3254	2713/2841	905/946		chrX	TogoVar
ARHGAP4_chrX_153902378_153931264	153910039	C C	CT CT	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0014 a0014	a0014c0022 a0014c0022	a0014c0022t0001 a0014c0022t0001	a0014c0022t0001g0108 a0014c0022t0001g0108	1	308	0.0033	1	c.220 others(10): Show c.2202_2203insA	p.Glu others(5): Show p.Glu735fs	ARHGAP4	ENSG00000089820.17	transcript	ENST00000350060.10	protein_coding	18/22	2264/3254	2202/2841	734/946		chrX	TogoVar
ARHGAP4_chrX_153902378_153931264	153910169	A A	AC AC	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19076.hp1 NA19076.hp1	a0014 a0014	a0014c0022 a0014c0022	a0014c0022t0001 a0014c0022t0001	a0014c0022t0001g0108 a0014c0022t0001g0108	1	308	0.0033	1	c.215 others(7): Show c.2156+1dupG		ARHGAP4	ENSG00000089820.17	transcript	ENST00000350060.10	protein_coding	17/21					chrX	TogoVar
ARHGAP4_chrX_153902378_153931264	153921674	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0014 a0014	a0014c0022 a0014c0022	a0014c0022t0001 a0014c0022t0001	a0014c0022t0001g0108 a0014c0022t0001g0108	1	308	0.0033	1	c.202 others(4): Show c.202dupG	p.Glu others(4): Show p.Glu68fs	ARHGAP4	ENSG00000089820.17	transcript	ENST00000350060.10	protein_coding	2/22	264/3254	202/2841	68/946		chrX	TogoVar
ARHGEF6_chrX_136660550_136785932	136682831	C C	CCGCCT CCGCCT	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0124 a0006c0008t0001g0124	1	247	0.0041	5	c.140 others(14): Show c.1405_1406insAGGCG	p.Arg others(5): Show p.Arg469fs	ARHGEF6	ENSG00000129675.16	transcript	ENST00000250617.7	protein_coding	13/22	1455/4860	1405/2331	469/776		chrX	TogoVar
ARHGEF9_chrX_63629967_63790214	63638202	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0011 a0002c0002t0015g0011	1	168	0.0060	1	c.139 others(5): Show c.1397dupA	p.Asn others(5): Show p.Asn466fs	ARHGEF9	ENSG00000131089.17	transcript	ENST00000671741.2	protein_coding	10/10	1466/4702	1397/1572	466/523		chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101489145	AC AC	A A	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0061 a0061	a0061c0022 a0061c0022	a0061c0022t0002 a0061c0022t0002	a0061c0022t0002g0001 a0061c0022t0002g0001	1	326	0.0031	-1	c.559 others(4): Show c.559delC	p.Gln others(5): Show p.Gln187fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	1070/7729	559/6873	187/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101493908	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0061 a0061	a0061c0022 a0061c0022	a0061c0022t0002 a0061c0022t0002	a0061c0022t0002g0001 a0061c0022t0002g0001	1	326	0.0031	-1	c.532 others(5): Show c.5323delG	p.Glu others(6): Show p.Glu1775fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5834/7729	5323/6873	1775/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARPC5L_chr9_124857130_124882733	124862400	A A	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp2 HG00423.hp2 HG00438.hp1 others(111): Show HG00140.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02523.hp2 HG02602.hp1 HG02698.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03710.hp2 HG03927.hp2 NA18522.hp2 NA18612.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18957.hp2 NA18964.hp1 NA18966.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18987.hp2 NA18989.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19076.hp1 NA19078.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19088.hp1 NA19240.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 others(4): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027	a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0019 others(42): Show a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0010g0002 a0001c0001t0015g0144 a0001c0001t0017g0133 a0001c0001t0021g0132 a0001c0001t0022g0054 a0001c0001t0027g0031	114	404	0.2822	0	c.-98 others(6): Show c.-984+2A>T		ARPC5L	ENSG00000136950.13	transcript	ENST00000353214.6	protein_coding	1/5					chr9	TogoVar
ARSD_chrX_2898972_2934339	2925646	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0007 a0010c0013t0007	a0010c0013t0007g0194 a0010c0013t0007g0194	1	344	0.0029	-1	c.163 others(4): Show c.163delG	p.Asp others(4): Show p.Asp55fs	ARSD	ENSG00000006756.16	transcript	ENST00000381154.6	protein_coding	2/10	227/5145	163/1782	55/593		chrX	TogoVar
ARSF_chrX_3036471_3117727	3112242	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0001 a0008c0019t0001	a0008c0019t0001g0076 a0008c0019t0001g0076	1	193	0.0052	1	c.146 others(5): Show c.1460dupT	p.Thr others(5): Show p.Thr488fs	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding	11/11	1682/2165	1461/1773	487/590	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARSF_chrX_3036471_3117727	3112266	G G	GA GA	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0001 a0008c0019t0001	a0008c0019t0001g0076 a0008c0019t0001g0076	1	193	0.0052	1	c.148 others(10): Show c.1483_1484insA	p.Gly others(5): Show p.Gly495fs	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding	11/11	1705/2165	1484/1773	495/590		chrX	TogoVar
ARSF_chrX_3036471_3117727	3112392	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0001 a0008c0019t0001	a0008c0019t0001g0076 a0008c0019t0001g0076	1	193	0.0052	-1	c.161 others(5): Show c.1612delC	p.Leu others(5): Show p.Leu538fs	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding	11/11	1833/2165	1612/1773	538/590	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARSF_chrX_3036471_3117727	3112533	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0001 a0008c0019t0001	a0008c0019t0001g0076 a0008c0019t0001g0076	1	193	0.0052	1	c.175 others(5): Show c.1754dupG	p.Pro others(5): Show p.Pro586fs	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding	11/11	1976/2165	1755/1773	585/590	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARSL_chrX_2929521_2969341	2935112	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0013 a0010c0015t0013	a0010c0015t0013g0288 a0010c0015t0013g0288	1	328	0.0031	1	c.148 others(5): Show c.1489dupG	p.Val others(5): Show p.Val497fs	ARSL	ENSG00000157399.17	transcript	ENST00000381134.9	protein_coding	11/11	1627/2219	1489/1770	497/589		chrX	TogoVar
AS3MT_chr10_102864470_102906899	102869497	TCCTGAGT others(29): Show TCCTGAGTCGCAGGCCGAGGAGACAGTGAGTGCGCGC	T T	frameshift_variant others(2): Show frameshift_variant start_lost splice_region_variant	HIGH	HG00099.hp1 HG00544.hp1 HG00597.hp1 others(170): Show HG00099.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19089.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0002c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(28): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0002t0004 a0001c0002t0018 a0001c0002t0019 a0001c0002t0023 a0001c0002t0024 a0001c0003t0004 a0001c0004t0007 a0001c0006t0006 a0001c0007t0004 a0001c0008t0003 a0001c0011t0002 a0002c0012t0006	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 others(163): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0060 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0106 a0001c0001t0003g0177 a0001c0001t0004g0027 a0001c0001t0006g0015 a0001c0001t0006g0102 a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0001t0006g0169 a0001c0001t0006g0170 a0001c0001t0006g0172 a0001c0001t0006g0173 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0007g0002 a0001c0001t0007g0107 a0001c0001t0007g0114 a0001c0001t0007g0115 a0001c0001t0007g0116 a0001c0001t0007g0117 a0001c0001t0007g0118 a0001c0001t0007g0120 a0001c0001t0007g0124 a0001c0001t0007g0129 a0001c0001t0007g0130 a0001c0001t0007g0138 a0001c0001t0008g0034 a0001c0001t0008g0035 a0001c0001t0008g0042 a0001c0001t0008g0043 a0001c0001t0008g0045 a0001c0001t0008g0048 a0001c0001t0008g0049 a0001c0001t0008g0050 a0001c0001t0008g0051 a0001c0001t0010g0070 a0001c0001t0010g0121 a0001c0001t0010g0146 a0001c0001t0010g0256 a0001c0001t0010g0261 a0001c0001t0010g0267 a0001c0001t0010g0269 a0001c0001t0012g0002 a0001c0001t0012g0003 a0001c0001t0012g0008 a0001c0001t0012g0123 a0001c0001t0012g0134 a0001c0001t0012g0151 a0001c0001t0014g0001 a0001c0001t0014g0061 a0001c0001t0014g0079 a0001c0001t0015g0059 a0001c0001t0015g0142 a0001c0001t0015g0152 a0001c0001t0016g0044 a0001c0001t0016g0052 a0001c0001t0020g0168 a0001c0001t0021g0171 a0001c0001t0022g0016 a0001c0001t0025g0046 a0001c0001t0026g0047 a0001c0001t0030g0005 a0001c0001t0031g0268 a0001c0001t0032g0131 a0001c0002t0004g0017 a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0023 a0001c0002t0004g0024 a0001c0002t0004g0025 a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0053 a0001c0002t0004g0054 a0001c0002t0004g0055 a0001c0002t0004g0057 a0001c0002t0004g0058 a0001c0002t0018g0030 a0001c0002t0019g0031 a0001c0002t0023g0026 a0001c0002t0024g0056 a0001c0003t0004g0036 a0001c0004t0007g0162 a0001c0006t0006g0176 a0001c0007t0004g0020 a0001c0008t0003g0073 a0001c0011t0002g0132 a0002c0012t0006g0167	173	362	0.4779	-36	c.-19 others(44): Show c.-19_1+16delAGTCGCAGGCCGAGGAGACAGTGAGTGCGCGCCCTG	p.Met others(3): Show p.Met1fs	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	1/11	105/2450	1/1128	1/375	INFO_REALIGN_3_PRIME	chr10	TogoVar
ASAH2B_chr10_50734936_50764255	50745132	T T	C C	start_lost start_lost	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(344): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(59): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0068 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0003t0002 a0001c0004t0081	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(135): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0043 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0003g0019 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0110 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0115 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0005g0003 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0006g0003 a0001c0001t0007g0001 a0001c0001t0007g0010 a0001c0001t0007g0024 a0001c0001t0007g0085 a0001c0001t0007g0098 a0001c0001t0008g0002 a0001c0001t0008g0116 a0001c0001t0008g0126 a0001c0001t0010g0004 a0001c0001t0010g0040 a0001c0001t0010g0042 a0001c0001t0011g0004 a0001c0001t0012g0016 a0001c0001t0013g0002 a0001c0001t0014g0001 a0001c0001t0017g0001 a0001c0001t0018g0025 a0001c0001t0019g0002 a0001c0001t0019g0011 a0001c0001t0019g0117 a0001c0001t0020g0010 a0001c0001t0021g0007 a0001c0001t0022g0004 a0001c0001t0023g0001 a0001c0001t0025g0004 a0001c0001t0025g0014 a0001c0001t0026g0029 a0001c0001t0027g0059 a0001c0001t0027g0060 a0001c0001t0029g0078 a0001c0001t0029g0080 a0001c0001t0034g0007 a0001c0001t0035g0114 a0001c0001t0037g0106 a0001c0001t0038g0001 a0001c0001t0039g0001 a0001c0001t0040g0079 a0001c0001t0041g0001 a0001c0001t0042g0044 a0001c0001t0043g0001 a0001c0001t0044g0036 a0001c0001t0045g0001 a0001c0001t0046g0012 a0001c0001t0047g0081 a0001c0001t0048g0111 a0001c0001t0049g0001 a0001c0001t0050g0122 a0001c0001t0051g0002 a0001c0001t0052g0015 a0001c0001t0053g0002 a0001c0001t0054g0062 a0001c0001t0055g0053 a0001c0001t0056g0003 a0001c0001t0057g0047 a0001c0001t0058g0077 a0001c0001t0059g0003 a0001c0001t0060g0058 a0001c0001t0061g0003 a0001c0001t0068g0061 a0001c0001t0072g0019 a0001c0001t0073g0001 a0001c0001t0074g0057 a0001c0001t0075g0033 a0001c0001t0076g0072 a0001c0001t0077g0007 a0001c0001t0078g0007 a0001c0001t0079g0007 a0001c0001t0080g0033 a0001c0003t0002g0002 a0001c0004t0081g0054	347	414	0.8382	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	ASAH2B	ENSG00000204147.11	transcript	ENST00000647317.2	protein_coding	3/6	149/5145	2/483	1/160		chr10	TogoVar
AVPR2_chrX_153899673_153912166	153905604	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0005 a0009c0012t0005	a0009c0012t0005g0008 a0009c0012t0005g0008	1	322	0.0031	1	c.101 others(4): Show c.101dupC	p.Leu others(4): Show p.Leu35fs	AVPR2	ENSG00000126895.16	transcript	ENST00000646375.2	protein_coding	3/4	373/1825	102/1116	34/371	INFO_REALIGN_3_PRIME	chrX	TogoVar
AVPR2_chrX_153899673_153912166	153905980	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0005 a0009c0012t0005	a0009c0012t0005g0008 a0009c0012t0005g0008	1	322	0.0031	1	c.476 others(4): Show c.476dupC	p.Val others(5): Show p.Val160fs	AVPR2	ENSG00000126895.16	transcript	ENST00000646375.2	protein_coding	3/4	748/1825	477/1116	159/371	INFO_REALIGN_3_PRIME	chrX	TogoVar
AVPR2_chrX_153899673_153912166	153906104	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0005 a0009c0012t0005	a0009c0012t0005g0008 a0009c0012t0005g0008	1	322	0.0031	1	c.602 others(4): Show c.602dupG	p.Arg others(5): Show p.Arg202fs	AVPR2	ENSG00000126895.16	transcript	ENST00000646375.2	protein_coding	3/4	874/1825	603/1116	201/371	INFO_REALIGN_3_PRIME	chrX	TogoVar
BEX3_chrX_103371538_103383164	103377621	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0009 a0002c0002t0004g0009	1	298	0.0034	-1	c.104 others(4): Show c.104delC	p.Pro others(4): Show p.Pro35fs	BEX3	ENSG00000166681.14	transcript	ENST00000361298.9	protein_coding	3/3	271/810	104/306	35/101	INFO_REALIGN_3_PRIME	chrX	TogoVar
BEX3_chrX_103371538_103383164	103377749	GA GA	G G	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0009 a0002c0002t0004g0009	1	298	0.0034	-1	c.229 others(4): Show c.229delA	p.Arg others(4): Show p.Arg77fs	BEX3	ENSG00000166681.14	transcript	ENST00000361298.9	protein_coding	3/3	396/810	229/306	77/101		chrX	TogoVar
BMP15_chrX_50905735_50921641	50916508	TA TA	T T	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0005 a0010c0011t0001g0005	1	294	0.0034	-1	c.108 others(5): Show c.1082delA	p.Lys others(5): Show p.Lys361fs	BMP15	ENSG00000130385.6	transcript	ENST00000252677.4	protein_coding	2/2	1131/1262	1082/1179	361/392	INFO_REALIGN_3_PRIME	chrX	TogoVar
BRIX1_chr5_34910711_34930996	34925223	T T	TA TA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp1 HG00323.hp1 HG00609.hp2 others(47): Show HG00140.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01099.hp2 HG01123.hp1 HG01168.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01952.hp1 HG01993.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02735.hp2 HG02738.hp1 HG02970.hp2 HG03017.hp2 HG03239.hp2 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG06807.hp1 NA18747.hp1 NA18967.hp1 NA18973.hp1 NA18997.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp1 NA19030.hp1 NA19060.hp1 NA19076.hp2 NA19078.hp2 NA19088.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0026 others(19): Show a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0120	50	440	0.1136	1	c.793 others(6): Show c.793-2dupA		BRIX1	ENSG00000113460.13	transcript	ENST00000336767.6	protein_coding	9/9				INFO_REALIGN_3_PRIME	chr5	TogoVar
BTNL2_chr6_32388339_32412181	32394744	C C	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG00438.hp2 HG02015.hp2 HG02129.hp2 others(42): Show HG00438.hp2 HG02015.hp2 HG02129.hp2 HG02132.hp2 HG02683.hp2 HG03490.hp2 HG03669.hp2 HG03831.hp2 HG04204.hp2 NA18940.hp2 NA18942.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18969.hp2 NA18972.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp2 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19004.hp2 NA19056.hp2 NA19066.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19076.hp2 NA19081.hp2 NA19085.hp2 NA19091.hp2 NA20905.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0001 a0004c0003t0003g0015 a0004c0003t0003g0042 others(10): Show a0004c0003t0003g0001 a0004c0003t0003g0015 a0004c0003t0003g0042 a0004c0003t0003g0067 a0004c0003t0003g0068 a0004c0003t0003g0178 a0004c0003t0003g0179 a0004c0003t0003g0180 a0004c0003t0003g0181 a0004c0003t0003g0182 a0004c0003t0003g0183 a0004c0003t0003g0184 a0004c0003t0003g0185	45	453	0.0993	0	c.136 others(4): Show c.1360G>T	p.Glu others(4): Show p.Glu454*	BTNL2	ENSG00000204290.11	transcript	ENST00000454136.8	protein_coding	6/8	1418/1564	1360/1449	454/482		chr6	TogoVar
BTNL2_chr6_32388339_32412181	32403192	TG TG	T T	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG00673.hp1 HG00738.hp2 others(66): Show HG00423.hp1 HG00673.hp1 HG00738.hp2 HG01123.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01346.hp2 HG01884.hp2 HG01952.hp2 HG02027.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02280.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03209.hp2 HG03516.hp2 HG03540.hp2 HG03704.hp2 NA18522.hp1 NA18522.hp2 NA18940.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18953.hp1 NA18973.hp2 NA18978.hp2 NA18981.hp2 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19054.hp1 NA19055.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19074.hp2 NA19076.hp1 NA19078.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19091.hp1 NA19240.hp2 NA20905.hp2	a0003 a0006 a0009 others(1): Show a0003 a0006 a0009 a0011	a0003c0004 a0003c0008 a0003c0021 others(3): Show a0003c0004 a0003c0008 a0003c0021 a0006c0007 a0009c0012 a0011c0020	a0003c0004t0002 a0003c0008t0001 a0003c0021t0002 others(3): Show a0003c0004t0002 a0003c0008t0001 a0003c0021t0002 a0006c0007t0001 a0009c0012t0002 a0011c0020t0002	a0003c0004t0002g0044 a0003c0004t0002g0070 a0003c0004t0002g0071 others(35): Show a0003c0004t0002g0044 a0003c0004t0002g0070 a0003c0004t0002g0071 a0003c0004t0002g0072 a0003c0004t0002g0073 a0003c0004t0002g0074 a0003c0004t0002g0075 a0003c0004t0002g0076 a0003c0004t0002g0077 a0003c0004t0002g0078 a0003c0004t0002g0079 a0003c0004t0002g0080 a0003c0004t0002g0081 a0003c0004t0002g0082 a0003c0004t0002g0083 a0003c0004t0002g0189 a0003c0004t0002g0190 a0003c0004t0002g0191 a0003c0004t0002g0192 a0003c0004t0002g0193 a0003c0004t0002g0194 a0003c0004t0002g0195 a0003c0004t0002g0196 a0003c0004t0002g0197 a0003c0008t0001g0006 a0003c0008t0001g0024 a0003c0008t0001g0122 a0003c0008t0001g0123 a0003c0008t0001g0124 a0003c0008t0001g0125 a0003c0008t0001g0126 a0003c0021t0002g0198 a0006c0007t0001g0005 a0006c0007t0001g0025 a0006c0007t0001g0055 a0006c0007t0001g0127 a0009c0012t0002g0069 a0011c0020t0002g0188	69	453	0.1523	-1	c.451 others(4): Show c.451delC	p.His others(5): Show p.His151fs	BTNL2	ENSG00000204290.11	transcript	ENST00000454136.8	protein_coding	3/8	509/1564	451/1449	151/482		chr6	TogoVar
CALHM6_chr6_116456375_116468771	116462456	T T	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00280.hp2 HG00323.hp2 HG00733.hp2 others(16): Show HG00280.hp2 HG00323.hp2 HG00733.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp2 HG02683.hp2 HG04184.hp1 NA18949.hp1 NA18951.hp1 NA18985.hp2 NA18991.hp2 NA19002.hp1 NA19010.hp2 NA19068.hp2 NA19076.hp1 NA19079.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0007 a0003c0003t0001g0025 a0003c0003t0001g0028 a0003c0003t0001g0007 a0003c0003t0001g0025 a0003c0003t0001g0028	19	440	0.0432	0	c.525 others(5): Show c.525+2T>G		CALHM6	ENSG00000188820.13	transcript	ENST00000368605.3	protein_coding	2/2					chr6	TogoVar
CCDC121_chr2_27620638_27634012	27627592	G G	A A	stop_gained stop_gained	HIGH	NA18954.hp2 NA18957.hp2 NA18981.hp2 others(4): Show NA18954.hp2 NA18957.hp2 NA18981.hp2 NA18994.hp2 NA19002.hp1 NA19067.hp1 NA19076.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	7	384	0.0182	0	c.208 others(3): Show c.208C>T	p.Arg others(3): Show p.Arg70*	CCDC121	ENSG00000176714.10	transcript	ENST00000324364.4	protein_coding	2/2	389/2343	208/837	70/278		chr2	TogoVar

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