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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Results per page.

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
DEFA4_chr8_6930820_6943306	6936727	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02015.hp2 HG02074.hp1 NA18960.hp1 others(15): Show HG02015.hp2 HG02074.hp1 NA18960.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18978.hp1 NA18979.hp2 NA19006.hp1 NA19012.hp1 NA19060.hp2 NA19064.hp1 NA19067.hp1 NA19072.hp2 NA19074.hp1 NA19075.hp2 NA19086.hp1 NA19088.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0005 a0002c0003t0001g0005	18	486	0.0370	0	c.172 others(5): Show c.172+1G>T		DEFA4	ENSG00000164821.5	transcript	ENST00000297435.3	protein_coding	2/2					chr8	TogoVar
DFFA_chr1_10451522_10477529	10472433	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(192): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18974.hp2 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18987.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19059.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0006 others(5): Show a0002c0002 a0002c0004 a0002c0006 a0002c0007 a0002c0008 a0002c0011 a0002c0012 a0002c0013	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(57): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0018 a0002c0002t0019 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0029 a0002c0002t0030 a0002c0002t0033 a0002c0002t0036 a0002c0002t0042 a0002c0002t0048 a0002c0002t0057 a0002c0002t0058 a0002c0002t0060 a0002c0002t0064 a0002c0002t0066 a0002c0002t0074 a0002c0002t0076 a0002c0002t0078 a0002c0002t0079 a0002c0002t0080 a0002c0002t0081 a0002c0002t0086 a0002c0002t0087 a0002c0002t0090 a0002c0002t0095 a0002c0002t0100 a0002c0002t0106 a0002c0002t0107 a0002c0002t0110 a0002c0002t0111 a0002c0004t0009 a0002c0004t0022 a0002c0004t0023 a0002c0004t0034 a0002c0004t0041 a0002c0004t0069 a0002c0004t0103 a0002c0006t0008 a0002c0006t0037 a0002c0007t0016 a0002c0008t0020 a0002c0008t0061 a0002c0011t0032 a0002c0012t0001 a0002c0013t0006	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0008 others(124): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0103 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0111 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0129 a0002c0002t0001g0136 a0002c0002t0001g0141 a0002c0002t0001g0143 a0002c0002t0001g0146 a0002c0002t0001g0150 a0002c0002t0002g0006 a0002c0002t0002g0010 a0002c0002t0002g0013 a0002c0002t0002g0019 a0002c0002t0002g0031 a0002c0002t0002g0060 a0002c0002t0002g0070 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0091 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0104 a0002c0002t0002g0134 a0002c0002t0002g0139 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0080 a0002c0002t0003g0081 a0002c0002t0003g0082 a0002c0002t0003g0085 a0002c0002t0003g0087 a0002c0002t0003g0088 a0002c0002t0003g0089 a0002c0002t0003g0093 a0002c0002t0003g0094 a0002c0002t0003g0130 a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0140 a0002c0002t0004g0007 a0002c0002t0004g0020 a0002c0002t0005g0027 a0002c0002t0005g0061 a0002c0002t0005g0062 a0002c0002t0005g0063 a0002c0002t0005g0064 a0002c0002t0005g0065 a0002c0002t0005g0068 a0002c0002t0006g0110 a0002c0002t0006g0113 a0002c0002t0006g0121 a0002c0002t0007g0145 a0002c0002t0009g0057 a0002c0002t0010g0029 a0002c0002t0010g0128 a0002c0002t0011g0017 a0002c0002t0012g0030 a0002c0002t0012g0105 a0002c0002t0013g0075 a0002c0002t0013g0077 a0002c0002t0013g0132 a0002c0002t0014g0119 a0002c0002t0015g0074 a0002c0002t0015g0097 a0002c0002t0018g0071 a0002c0002t0018g0073 a0002c0002t0019g0032 a0002c0002t0024g0120 a0002c0002t0025g0086 a0002c0002t0026g0028 a0002c0002t0029g0100 a0002c0002t0030g0050 a0002c0002t0030g0152 a0002c0002t0033g0135 a0002c0002t0036g0083 a0002c0002t0042g0066 a0002c0002t0048g0131 a0002c0002t0057g0117 a0002c0002t0058g0127 a0002c0002t0060g0118 a0002c0002t0064g0092 a0002c0002t0066g0142 a0002c0002t0074g0098 a0002c0002t0076g0149 a0002c0002t0078g0151 a0002c0002t0079g0148 a0002c0002t0080g0112 a0002c0002t0081g0125 a0002c0002t0086g0099 a0002c0002t0087g0072 a0002c0002t0090g0059 a0002c0002t0095g0144 a0002c0002t0100g0069 a0002c0002t0106g0147 a0002c0002t0107g0133 a0002c0002t0110g0090 a0002c0002t0111g0084 a0002c0004t0009g0025 a0002c0004t0022g0052 a0002c0004t0023g0054 a0002c0004t0034g0055 a0002c0004t0041g0053 a0002c0004t0069g0051 a0002c0004t0103g0056 a0002c0006t0008g0026 a0002c0006t0037g0058 a0002c0007t0016g0018 a0002c0008t0020g0153 a0002c0008t0020g0154 a0002c0008t0061g0049 a0002c0011t0032g0067 a0002c0012t0001g0109 a0002c0013t0006g0116	195	438	0.4452	1	c.25d others(3): Show c.25dupG	p.Val others(3): Show p.Val9fs	DFFA	ENSG00000160049.12	transcript	ENST00000377038.8	protein_coding	1/6	96/6035	25/996	9/331		chr1	TogoVar
DGKK_chrX_50360409_50475825	50376912	CA CA	C C	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0001 a0009c0018t0001	a0009c0018t0001g0025 a0009c0018t0001g0025	1	248	0.0040	-1	c.311 others(5): Show c.3117delT	p.Phe others(6): Show p.Phe1039fs	DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	23/28	3264/7494	3117/3816	1039/1271		chrX	TogoVar
DGKK_chrX_50360409_50475825	50380072	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0001 a0009c0018t0001	a0009c0018t0001g0025 a0009c0018t0001g0025	1	248	0.0040	1	c.266 others(5): Show c.2662dupC	p.Arg others(5): Show p.Arg888fs	DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	19/28	2809/7494	2662/3816	888/1271		chrX	TogoVar
DGKK_chrX_50360409_50475825	50384181	T T	TA TA	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0001 a0009c0018t0001	a0009c0018t0001g0025 a0009c0018t0001g0025	1	248	0.0040	1	c.253 others(5): Show c.2535dupT	p.Thr others(5): Show p.Thr846fs	DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	17/28	2682/7494	2535/3816	845/1271		chrX	TogoVar
DGKK_chrX_50360409_50475825	50384244	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0001 a0009c0018t0001	a0009c0018t0001g0025 a0009c0018t0001g0025	1	248	0.0040	1	c.247 others(5): Show c.2472dupG	p.Ser others(5): Show p.Ser825fs	DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	17/28	2619/7494	2472/3816	824/1271		chrX	TogoVar
DRD4_chr11_632269_645706	639791	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00544.hp1 HG00642.hp2 HG01109.hp2 others(10): Show HG00544.hp1 HG00642.hp2 HG01109.hp2 HG01361.hp2 HG01928.hp1 HG02055.hp1 HG02738.hp1 HG03688.hp1 NA18950.hp2 NA18967.hp2 NA19030.hp2 NA19075.hp2 NA19077.hp1	a0000 a0000	a0000c0007 a0000c0011 a0000c0030 others(2): Show a0000c0007 a0000c0011 a0000c0030 a0000c0031 a0000c0052	a0000c0007t0001 a0000c0007t0002 a0000c0011t0001 others(3): Show a0000c0007t0001 a0000c0007t0002 a0000c0011t0001 a0000c0030t0001 a0000c0031t0001 a0000c0052t0001	a0000c0007t0001g0001 a0000c0007t0001g0003 a0000c0007t0001g0005 others(7): Show a0000c0007t0001g0001 a0000c0007t0001g0003 a0000c0007t0001g0005 a0000c0007t0001g0006 a0000c0007t0002g0007 a0000c0011t0001g0002 a0000c0011t0001g0010 a0000c0030t0001g0007 a0000c0031t0001g0019 a0000c0052t0001g0058	13	421	0.0309	1	c.546 others(4): Show c.546dupC	p.Ala others(5): Show p.Ala183fs	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding	3/4	583/1399	547/1260	183/419	INFO_REALIGN_3_PRIME	chr11	TogoVar
DRP2_chrX_101214786_101269502	101250978	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0132 a0007c0012t0001g0132	1	260	0.0039	1	c.176 others(5): Show c.1761dupG	p.Ser others(5): Show p.Ser588fs	DRP2	ENSG00000102385.13	transcript	ENST00000395209.8	protein_coding	16/24	2289/7282	1762/2874	588/957	INFO_REALIGN_3_PRIME	chrX	TogoVar
DRP2_chrX_101214786_101269502	101251005	AT AT	A A	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0132 a0007c0012t0001g0132	1	260	0.0039	-1	c.178 others(5): Show c.1788delT	p.Arg others(5): Show p.Arg597fs	DRP2	ENSG00000102385.13	transcript	ENST00000395209.8	protein_coding	16/24	2315/7282	1788/2874	596/957		chrX	TogoVar
DRP2_chrX_101214786_101269502	101254917	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0132 a0007c0012t0001g0132	1	260	0.0039	-1	c.217 others(5): Show c.2175delC	p.Ser others(5): Show p.Ser726fs	DRP2	ENSG00000102385.13	transcript	ENST00000395209.8	protein_coding	19/24	2702/7282	2175/2874	725/957	INFO_REALIGN_3_PRIME	chrX	TogoVar
DYNLT3_chrX_37833836_37852571	37840614	GT GT	G G	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0000 a0000	a0000c0004 a0000c0004	a0000c0004t0012 a0000c0004t0012	a0000c0004t0012g0109 a0000c0004t0012g0109	1	324	0.0031	-1	c.311 others(4): Show c.311delA	p.Asn others(5): Show p.Asn104fs	DYNLT3	ENSG00000165169.11	transcript	ENST00000378578.9	protein_coding	5/5	372/2151	311/351	104/116		chrX	TogoVar
DZANK1_chr20_18378367_18472030	18412855	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(210): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp2 NA18965.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19074.hp1 NA19075.hp2 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0015 a0016 a0018	a0001c0001 a0001c0007 a0001c0015 others(16): Show a0001c0001 a0001c0007 a0001c0015 a0002c0004 a0002c0005 a0002c0022 a0003c0016 a0004c0027 a0005c0008 a0006c0009 a0007c0011 a0009c0019 a0010c0029 a0011c0021 a0012c0026 a0013c0035 a0015c0031 a0016c0023 a0018c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0007t0002 a0001c0007t0003 a0001c0007t0004 a0001c0007t0008 a0001c0007t0012 a0001c0007t0013 a0001c0015t0004 a0001c0015t0010 a0002c0004t0001 a0002c0004t0003 a0002c0004t0008 a0002c0004t0014 a0002c0004t0015 a0002c0005t0001 a0002c0005t0003 a0002c0022t0001 a0003c0016t0002 a0004c0027t0008 a0005c0008t0001 a0005c0008t0003 a0006c0009t0001 a0006c0009t0005 a0007c0011t0007 a0009c0019t0002 a0010c0029t0005 a0011c0021t0002 a0012c0026t0003 a0013c0035t0011 a0015c0031t0003 a0016c0023t0001 a0018c0030t0005	a0001c0001t0001g0285 a0001c0001t0001g0293 a0001c0001t0001g0333 others(196): Show a0001c0001t0001g0285 a0001c0001t0001g0293 a0001c0001t0001g0333 a0001c0001t0002g0026 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0261 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0287 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0003g0246 a0001c0001t0009g0024 a0001c0001t0009g0179 a0001c0001t0009g0332 a0001c0001t0010g0277 a0001c0001t0011g0275 a0001c0007t0002g0011 a0001c0007t0002g0139 a0001c0007t0002g0140 a0001c0007t0002g0228 a0001c0007t0002g0229 a0001c0007t0003g0342 a0001c0007t0004g0022 a0001c0007t0004g0117 a0001c0007t0004g0201 a0001c0007t0004g0234 a0001c0007t0004g0249 a0001c0007t0004g0256 a0001c0007t0004g0257 a0001c0007t0004g0258 a0001c0007t0008g0243 a0001c0007t0008g0244 a0001c0007t0012g0111 a0001c0007t0013g0238 a0001c0015t0004g0259 a0001c0015t0004g0260 a0001c0015t0010g0178 a0001c0015t0010g0245 a0002c0004t0001g0034 a0002c0004t0001g0041 a0002c0004t0001g0043 a0002c0004t0001g0044 a0002c0004t0001g0049 a0002c0004t0001g0050 a0002c0004t0001g0054 a0002c0004t0001g0072 a0002c0004t0001g0082 a0002c0004t0001g0096 a0002c0004t0001g0248 a0002c0004t0003g0005 a0002c0004t0003g0006 a0002c0004t0003g0033 a0002c0004t0003g0035 a0002c0004t0003g0036 a0002c0004t0003g0040 a0002c0004t0003g0042 a0002c0004t0003g0045 a0002c0004t0003g0048 a0002c0004t0003g0051 a0002c0004t0003g0052 a0002c0004t0003g0055 a0002c0004t0003g0056 a0002c0004t0003g0057 a0002c0004t0003g0061 a0002c0004t0003g0066 a0002c0004t0003g0071 a0002c0004t0003g0073 a0002c0004t0003g0074 a0002c0004t0003g0075 a0002c0004t0003g0079 a0002c0004t0003g0080 a0002c0004t0003g0081 a0002c0004t0003g0086 a0002c0004t0003g0087 a0002c0004t0003g0088 a0002c0004t0003g0089 a0002c0004t0003g0090 a0002c0004t0003g0095 a0002c0004t0003g0295 a0002c0004t0008g0286 a0002c0004t0014g0284 a0002c0004t0015g0039 a0002c0005t0001g0007 a0002c0005t0001g0008 a0002c0005t0001g0015 a0002c0005t0001g0115 a0002c0005t0001g0116 a0002c0005t0001g0120 a0002c0005t0001g0121 a0002c0005t0001g0123 a0002c0005t0001g0124 a0002c0005t0001g0125 a0002c0005t0001g0126 a0002c0005t0001g0127 a0002c0005t0001g0128 a0002c0005t0001g0129 a0002c0005t0001g0132 a0002c0005t0001g0133 a0002c0005t0001g0134 a0002c0005t0001g0135 a0002c0005t0001g0151 a0002c0005t0001g0154 a0002c0005t0001g0180 a0002c0005t0001g0181 a0002c0005t0001g0188 a0002c0005t0001g0190 a0002c0005t0001g0191 a0002c0005t0001g0192 a0002c0005t0001g0193 a0002c0005t0001g0194 a0002c0005t0001g0195 a0002c0005t0001g0240 a0002c0005t0003g0122 a0002c0005t0003g0144 a0002c0005t0003g0230 a0002c0005t0003g0239 a0002c0022t0001g0130 a0003c0016t0002g0206 a0003c0016t0002g0271 a0004c0027t0008g0235 a0005c0008t0001g0002 a0005c0008t0001g0231 a0005c0008t0001g0263 a0005c0008t0001g0264 a0005c0008t0001g0265 a0005c0008t0001g0266 a0005c0008t0003g0207 a0006c0009t0001g0146 a0006c0009t0005g0012 a0006c0009t0005g0145 a0006c0009t0005g0147 a0006c0009t0005g0237 a0006c0009t0005g0273 a0007c0011t0007g0004 a0007c0011t0007g0028 a0007c0011t0007g0029 a0007c0011t0007g0030 a0009c0019t0002g0304 a0009c0019t0002g0329 a0010c0029t0005g0136 a0011c0021t0002g0182 a0012c0026t0003g0187 a0013c0035t0011g0097 a0015c0031t0003g0247 a0016c0023t0001g0131 a0018c0030t0005g0148	213	374	0.5695	0	c.130 others(6): Show c.1300-2G>A		DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding	12/20					chr20	TogoVar
EBLN2_chr3_73056659_73068337	73062330	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00423.hp2 HG00597.hp1 others(111): Show HG00099.hp1 HG00423.hp2 HG00597.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01069.hp1 HG01192.hp1 HG01243.hp1 HG01346.hp2 HG01515.hp2 HG01884.hp2 HG01993.hp1 HG02027.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG02809.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03239.hp1 HG03453.hp1 HG03491.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18987.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19089.hp1 NA19240.hp1 NA20805.hp1 NA20905.hp1	a0002 a0005 a0006 a0002 a0005 a0006	a0002c0002 a0002c0009 a0005c0006 others(1): Show a0002c0002 a0002c0009 a0005c0006 a0006c0007	a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 others(8): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0022 a0002c0002t0023 a0002c0009t0003 a0005c0006t0002 a0006c0007t0002	a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0009g0000 others(8): Show a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0009g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 a0002c0002t0014g0000 a0002c0002t0022g0000 a0002c0002t0023g0000 a0002c0009t0003g0000 a0005c0006t0002g0000 a0006c0007t0002g0000	114	428	0.2664	1	c.250 others(4): Show c.250dupA	p.Arg others(4): Show p.Arg84fs	EBLN2	ENSG00000255423.1	transcript	ENST00000533473.1	protein_coding	1/1	674/1679	251/819	84/272	INFO_REALIGN_3_PRIME	chr3	TogoVar
EFCAB13_chr17_47318955_47446312	47347921	C C	T T	stop_gained stop_gained	HIGH	HG00408.hp2 HG00423.hp1 HG00438.hp1 others(25): Show HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG01123.hp2 HG02004.hp2 HG02027.hp2 HG02155.hp2 HG02602.hp2 HG02738.hp2 HG03654.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 NA18955.hp2 NA18957.hp1 NA18965.hp1 NA18977.hp2 NA18981.hp2 NA18985.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19063.hp2 NA19075.hp1 NA19081.hp1	a0005 a0011 a0005 a0011	a0005c0005 a0011c0027 a0005c0005 a0011c0027	a0005c0005t0001 a0005c0005t0002 a0005c0005t0003 others(2): Show a0005c0005t0001 a0005c0005t0002 a0005c0005t0003 a0005c0005t0007 a0011c0027t0001	a0005c0005t0001g0007 a0005c0005t0001g0008 a0005c0005t0001g0068 others(25): Show a0005c0005t0001g0007 a0005c0005t0001g0008 a0005c0005t0001g0068 a0005c0005t0001g0069 a0005c0005t0001g0071 a0005c0005t0001g0074 a0005c0005t0001g0075 a0005c0005t0001g0110 a0005c0005t0001g0115 a0005c0005t0001g0116 a0005c0005t0001g0200 a0005c0005t0001g0202 a0005c0005t0001g0203 a0005c0005t0001g0204 a0005c0005t0001g0206 a0005c0005t0001g0207 a0005c0005t0001g0208 a0005c0005t0001g0209 a0005c0005t0001g0210 a0005c0005t0001g0211 a0005c0005t0001g0212 a0005c0005t0001g0274 a0005c0005t0001g0342 a0005c0005t0002g0238 a0005c0005t0003g0118 a0005c0005t0003g0327 a0005c0005t0007g0213 a0011c0027t0001g0121	28	356	0.0787	0	c.631 others(3): Show c.631C>T	p.Arg others(4): Show p.Arg211*	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	9/25	1068/3957	631/2922	211/973		chr17	TogoVar
EFNB1_chrX_68824021_68847160	68840269	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0025 a0004c0005t0025	a0004c0005t0025g0053 a0004c0005t0025g0053	1	335	0.0030	-1	c.659 others(4): Show c.659delC	p.Pro others(5): Show p.Pro220fs	EFNB1	ENSG00000090776.6	transcript	ENST00000204961.5	protein_coding	5/5	1415/3303	659/1041	220/346	INFO_REALIGN_3_PRIME	chrX	TogoVar
EFNB1_chrX_68824021_68847160	68840319	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0025 a0004c0005t0025	a0004c0005t0025g0053 a0004c0005t0025g0053	1	335	0.0030	-1	c.708 others(4): Show c.708delC	p.Lys others(5): Show p.Lys237fs	EFNB1	ENSG00000090776.6	transcript	ENST00000204961.5	protein_coding	5/5	1464/3303	708/1041	236/346	INFO_REALIGN_3_PRIME	chrX	TogoVar
EFNB1_chrX_68824021_68847160	68840513	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0025 a0004c0005t0025	a0004c0005t0025g0053 a0004c0005t0025g0053	1	335	0.0030	1	c.901 others(4): Show c.901dupG	p.Asp others(5): Show p.Asp301fs	EFNB1	ENSG00000090776.6	transcript	ENST00000204961.5	protein_coding	5/5	1658/3303	902/1041	301/346	INFO_REALIGN_3_PRIME	chrX	TogoVar
EFNB1_chrX_68824021_68847160	68840583	T T	TA TA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19075.hp1 NA19075.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0025 a0004c0005t0025	a0004c0005t0025g0053 a0004c0005t0025g0053	1	335	0.0030	1	c.971 others(4): Show c.971dupA	p.Tyr others(5): Show p.Tyr324fs	EFNB1	ENSG00000090776.6	transcript	ENST00000204961.5	protein_coding	5/5	1728/3303	972/1041	324/346	INFO_REALIGN_3_PRIME	chrX	TogoVar
ELK1_chrX_47630521_47655563	47641250	C C	CT CT	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0108 a0005c0006t0001g0108	1	276	0.0036	1	c.191 others(8): Show c.191_192insA	p.Arg others(4): Show p.Arg65fs	ELK1	ENSG00000126767.18	transcript	ENST00000376983.8	protein_coding	3/7	472/2876	191/1287	64/428		chrX	TogoVar
ELK1_chrX_47630521_47655563	47641254	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0108 a0005c0006t0001g0108	1	276	0.0036	1	c.187 others(4): Show c.187dupG	p.Ala others(4): Show p.Ala63fs	ELK1	ENSG00000126767.18	transcript	ENST00000376983.8	protein_coding	3/7	468/2876	187/1287	63/428		chrX	TogoVar
ELK1_chrX_47630521_47655563	47641317	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0108 a0005c0006t0001g0108	1	276	0.0036	1	c.124 others(4): Show c.124dupG	p.Val others(4): Show p.Val42fs	ELK1	ENSG00000126767.18	transcript	ENST00000376983.8	protein_coding	3/7	405/2876	124/1287	42/428		chrX	TogoVar
ERCC6L_chrX_72199665_72244027	72205075	CT CT	C C	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0209 a0006c0012t0001g0209	1	286	0.0035	-1	c.369 others(5): Show c.3691delA	p.Ser others(6): Show p.Ser1231fs	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	2/2	3807/4218	3691/3753	1231/1250		chrX	TogoVar
ERCC6L_chrX_72199665_72244027	72205531	A A	AT AT	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0209 a0006c0012t0001g0209	1	286	0.0035	1	c.323 others(5): Show c.3235dupA	p.Ile others(6): Show p.Ile1079fs	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	2/2	3351/4218	3235/3753	1079/1250		chrX	TogoVar
ERCC6L_chrX_72199665_72244027	72205540	GA GA	G G	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0209 a0006c0012t0001g0209	1	286	0.0035	-1	c.322 others(5): Show c.3226delT	p.Ser others(6): Show p.Ser1076fs	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	2/2	3342/4218	3226/3753	1076/1250		chrX	TogoVar
ERCC6L_chrX_72199665_72244027	72205718	CT CT	C C	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0209 a0006c0012t0001g0209	1	286	0.0035	-1	c.304 others(5): Show c.3048delA	p.Ala others(6): Show p.Ala1017fs	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	2/2	3164/4218	3048/3753	1016/1250		chrX	TogoVar
ERCC6L_chrX_72199665_72244027	72206045	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0209 a0006c0012t0001g0209	1	286	0.0035	1	c.272 others(5): Show c.2721dupT	p.Ala others(5): Show p.Ala908fs	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	2/2	2837/4218	2721/3753	907/1250		chrX	TogoVar
ERCC6L_chrX_72199665_72244027	72206089	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0209 a0006c0012t0001g0209	1	286	0.0035	1	c.267 others(5): Show c.2677dupT	p.Cys others(5): Show p.Cys893fs	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	2/2	2793/4218	2677/3753	893/1250		chrX	TogoVar
ERCC6L_chrX_72199665_72244027	72206132	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0209 a0006c0012t0001g0209	1	286	0.0035	1	c.263 others(5): Show c.2634dupG	p.Pro others(5): Show p.Pro879fs	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	2/2	2750/4218	2634/3753	878/1250		chrX	TogoVar
ERCC6L_chrX_72199665_72244027	72206357	CT CT	C C	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0209 a0006c0012t0001g0209	1	286	0.0035	-1	c.240 others(5): Show c.2409delA	p.Gly others(5): Show p.Gly804fs	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	2/2	2525/4218	2409/3753	803/1250		chrX	TogoVar
ERCC6L_chrX_72199665_72244027	72206452	A A	AT AT	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0209 a0006c0012t0001g0209	1	286	0.0035	1	c.231 others(5): Show c.2314dupA	p.Met others(5): Show p.Met772fs	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	2/2	2430/4218	2314/3753	772/1250		chrX	TogoVar
ERCC6L_chrX_72199665_72244027	72206532	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0209 a0006c0012t0001g0209	1	286	0.0035	1	c.223 others(5): Show c.2234dupC	p.Lys others(5): Show p.Lys746fs	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	2/2	2350/4218	2234/3753	745/1250		chrX	TogoVar
ERCC6L_chrX_72199665_72244027	72206579	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0209 a0006c0012t0001g0209	1	286	0.0035	1	c.218 others(5): Show c.2187dupC	p.Trp others(5): Show p.Trp730fs	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	2/2	2303/4218	2187/3753	729/1250		chrX	TogoVar
ERCC6L_chrX_72199665_72244027	72206608	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0209 a0006c0012t0001g0209	1	286	0.0035	-1	c.215 others(5): Show c.2158delG	p.Glu others(5): Show p.Glu720fs	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	2/2	2274/4218	2158/3753	720/1250		chrX	TogoVar
ERCC6L_chrX_72199665_72244027	72206657	CT CT	C C	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0209 a0006c0012t0001g0209	1	286	0.0035	-1	c.210 others(5): Show c.2109delA	p.Ala others(5): Show p.Ala704fs	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	2/2	2225/4218	2109/3753	703/1250		chrX	TogoVar
ERCC6L_chrX_72199665_72244027	72206663	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0209 a0006c0012t0001g0209	1	286	0.0035	1	c.210 others(10): Show c.2103_2104insA	p.Gln others(5): Show p.Gln702fs	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	2/2	2219/4218	2103/3753	701/1250		chrX	TogoVar
ERCC6L_chrX_72199665_72244027	72206853	G G	GGT GGT	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0209 a0006c0012t0001g0209	1	286	0.0035	2	c.191 others(11): Show c.1912_1913dupAC	p.Gln others(5): Show p.Gln639fs	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	2/2	2029/4218	1913/3753	638/1250		chrX	TogoVar
ERCC6L_chrX_72199665_72244027	72206925	GT GT	G G	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0209 a0006c0012t0001g0209	1	286	0.0035	-1	c.184 others(5): Show c.1841delA	p.Asn others(5): Show p.Asn614fs	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	2/2	1957/4218	1841/3753	614/1250		chrX	TogoVar
ERCC6L_chrX_72199665_72244027	72206967	GA GA	G G	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0209 a0006c0012t0001g0209	1	286	0.0035	-1	c.179 others(5): Show c.1799delT	p.Phe others(5): Show p.Phe600fs	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	2/2	1915/4218	1799/3753	600/1250		chrX	TogoVar
ERCC6L_chrX_72199665_72244027	72206980	C C	CT CT	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0209 a0006c0012t0001g0209	1	286	0.0035	1	c.178 others(5): Show c.1786dupA	p.Arg others(5): Show p.Arg596fs	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	2/2	1902/4218	1786/3753	596/1250		chrX	TogoVar
ERCC6L_chrX_72199665_72244027	72206986	A A	AT AT	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0209 a0006c0012t0001g0209	1	286	0.0035	1	c.178 others(5): Show c.1780dupA	p.Ile others(5): Show p.Ile594fs	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	2/2	1896/4218	1780/3753	594/1250		chrX	TogoVar
ERCC6L_chrX_72199665_72244027	72207289	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0209 a0006c0012t0001g0209	1	286	0.0035	1	c.147 others(5): Show c.1477dupG	p.Glu others(5): Show p.Glu493fs	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	2/2	1593/4218	1477/3753	493/1250		chrX	TogoVar
ERCC6L_chrX_72199665_72244027	72207301	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0209 a0006c0012t0001g0209	1	286	0.0035	1	c.146 others(5): Show c.1465dupC	p.Leu others(5): Show p.Leu489fs	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	2/2	1581/4218	1465/3753	489/1250		chrX	TogoVar
ERCC6L_chrX_72199665_72244027	72207370	AT AT	A A	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0209 a0006c0012t0001g0209	1	286	0.0035	-1	c.139 others(5): Show c.1396delA	p.Met others(5): Show p.Met466fs	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	2/2	1512/4218	1396/3753	466/1250		chrX	TogoVar
ERCC6L_chrX_72199665_72244027	72207397	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0209 a0006c0012t0001g0209	1	286	0.0035	-1	c.136 others(5): Show c.1369delG	p.Glu others(5): Show p.Glu457fs	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	2/2	1485/4218	1369/3753	457/1250		chrX	TogoVar
ERCC6L_chrX_72199665_72244027	72207543	CT CT	C C	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0209 a0006c0012t0001g0209	1	286	0.0035	-1	c.122 others(5): Show c.1223delA	p.Lys others(5): Show p.Lys408fs	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	2/2	1339/4218	1223/3753	408/1250		chrX	TogoVar
ERCC6L_chrX_72199665_72244027	72207614	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0209 a0006c0012t0001g0209	1	286	0.0035	1	c.115 others(5): Show c.1152dupT	p.Val others(5): Show p.Val385fs	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	2/2	1268/4218	1152/3753	384/1250		chrX	TogoVar
ERCC6L_chrX_72199665_72244027	72207680	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0209 a0006c0012t0001g0209	1	286	0.0035	1	c.108 others(5): Show c.1086dupC	p.Arg others(5): Show p.Arg363fs	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	2/2	1202/4218	1086/3753	362/1250		chrX	TogoVar
ERCC6L_chrX_72199665_72244027	72208106	CA CA	C C	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0209 a0006c0012t0001g0209	1	286	0.0035	-1	c.660 others(4): Show c.660delT	p.Phe others(5): Show p.Phe220fs	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	2/2	776/4218	660/3753	220/1250		chrX	TogoVar
ERCC6L_chrX_72199665_72244027	72208192	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0209 a0006c0012t0001g0209	1	286	0.0035	1	c.574 others(4): Show c.574dupC	p.Gln others(5): Show p.Gln192fs	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	2/2	690/4218	574/3753	192/1250		chrX	TogoVar
FAM120C_chrX_54063324_54188254	54132709	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0034 a0005c0007t0034	a0005c0007t0034g0007 a0005c0007t0034g0007	1	190	0.0053	1	c.204 others(10): Show c.2044_2045insT	p.Arg others(5): Show p.Arg682fs	FAM120C	ENSG00000184083.12	transcript	ENST00000375180.7	protein_coding	9/16	2100/8056	2044/3291	682/1096		chrX	TogoVar

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