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 limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATRNL1_chr10_115088365_115953999	115598350	A A	ATTATTTA others(1): Show ATTATTTAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02135.hp1 HG02818.hp2 others(1): Show HG01361.hp2 HG02135.hp1 HG02818.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0068 a0001c0001t0001g0091 a0001c0001t0001g0105 others(1): Show a0001c0001t0001g0068 a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0003g0061	4	128	0.0313	8	c.379 others(29): Show c.3795+48837_3795+48844dupATTTATTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115621254	A A	AATATATA others(1): Show AATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp1 HG02300.hp1 others(2): Show HG01081.hp2 HG02055.hp1 HG02300.hp1 HG02622.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0022 a0001c0001t0003 a0001c0001t0010 a0001c0001t0022	a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0010g0033 others(2): Show a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0010g0033 a0001c0001t0010g0034 a0001c0001t0022g0032	5	128	0.0391	8	c.379 others(29): Show c.3795+71734_3795+71741dupTATATATA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115621276	T T	TATATAGA others(1): Show TATATAGAG	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA19070.hp2 HG01952.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0065 a0001c0001t0001g0070	2	128	0.0156	8	c.379 others(29): Show c.3795+71741_3795+71742insTATAGAGA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115646036	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01515.hp1 HG02015.hp1 others(3): Show HG01071.hp1 HG01515.hp1 HG02015.hp1 HG03834.hp2 NA18906.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0004 a0001c0002t0005 others(2): Show a0001c0001t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0028 a0001c0003t0031	a0001c0001t0001g0069 a0001c0002t0004g0127 a0001c0002t0005g0037 others(3): Show a0001c0001t0001g0069 a0001c0002t0004g0127 a0001c0002t0005g0037 a0001c0002t0005g0044 a0001c0002t0028g0076 a0001c0003t0031g0016	6	128	0.0469	8	c.379 others(29): Show c.3796-81186_3796-81179dupCACACACA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115691723	A A	AAATCAAT others(1): Show AAATCAATC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG00639.hp2 HG02896.hp1 HG02897.hp2 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0032 a0001c0005t0007 a0001c0005t0032	a0001c0005t0007g0002 a0001c0005t0007g0004 a0001c0005t0007g0009 others(1): Show a0001c0005t0007g0002 a0001c0005t0007g0004 a0001c0005t0007g0009 a0001c0005t0032g0005	4	128	0.0313	8	c.379 others(29): Show c.3796-35504_3796-35497dupAATCAATC	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115713675	T T	TTCTATCT others(1): Show TTCTATCTA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01258.hp1 HG02055.hp2 others(5): Show HG00738.hp1 HG01258.hp1 HG02055.hp2 HG02132.hp1 HG02615.hp1 HG02895.hp2 HG03195.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0043 a0001c0002t0001 a0001c0006t0009	a0001c0001t0001g0124 a0001c0001t0002g0080 a0001c0001t0008g0082 others(5): Show a0001c0001t0001g0124 a0001c0001t0002g0080 a0001c0001t0008g0082 a0001c0001t0043g0094 a0001c0002t0001g0041 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0006t0009g0038	8	128	0.0625	8	c.379 others(29): Show c.3796-13550_3796-13543dupTATCTATC	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115713705	C C	CTATCATC others(1): Show CTATCATCT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01943.hp1 HG02258.hp2 others(8): Show HG01071.hp1 HG01943.hp1 HG02258.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG03041.hp2 HG03239.hp2 NA18957.hp1 NA19030.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0013	a0001c0001t0011 a0001c0001t0017 a0001c0002t0001 others(7): Show a0001c0001t0011 a0001c0001t0017 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0003t0001 a0001c0003t0002 a0001c0003t0045 a0001c0007t0027 a0001c0013t0009	a0001c0001t0011g0119 a0001c0001t0017g0028 a0001c0002t0001g0045 others(8): Show a0001c0001t0011g0119 a0001c0001t0017g0028 a0001c0002t0001g0045 a0001c0002t0005g0043 a0001c0002t0005g0044 a0001c0002t0006g0086 a0001c0003t0001g0083 a0001c0003t0002g0081 a0001c0003t0045g0090 a0001c0007t0027g0006 a0001c0013t0009g0078	11	128	0.0859	8	c.379 others(29): Show c.3796-13543_3796-13542insTATCATCT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28			chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115729339	A A	ATTTCATT others(1): Show ATTTCATTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00735.hp2 others(48): Show HG00639.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01123.hp2 HG01258.hp1 HG01361.hp1 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG02015.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp2 HG02300.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03579.hp2 HG03834.hp2 NA18522.hp1 NA18906.hp2 NA18957.hp1 NA18994.hp1 NA18995.hp1 NA19003.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19070.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0002c0008 a0002c0014	a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 others(30): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0042 a0001c0001t0043 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0028 a0001c0003t0015 a0001c0003t0038 a0001c0005t0007 a0001c0005t0018 a0001c0005t0021 a0001c0005t0032 a0001c0006t0009 a0001c0006t0033 a0001c0007t0027 a0001c0010t0006 a0001c0011t0002 a0001c0012t0001 a0001c0013t0009 a0002c0008t0011 a0002c0014t0009	a0001c0001t0002g0015 a0001c0001t0002g0111 a0001c0001t0002g0113 others(48): Show a0001c0001t0002g0015 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0008g0023 a0001c0001t0008g0030 a0001c0001t0011g0112 a0001c0001t0013g0019 a0001c0001t0017g0028 a0001c0001t0019g0020 a0001c0001t0020g0115 a0001c0001t0022g0032 a0001c0001t0023g0022 a0001c0001t0025g0021 a0001c0001t0026g0010 a0001c0001t0042g0095 a0001c0001t0043g0094 a0001c0002t0001g0045 a0001c0002t0001g0103 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0054 a0001c0002t0004g0056 a0001c0002t0004g0058 a0001c0002t0004g0067 a0001c0002t0004g0127 a0001c0002t0005g0037 a0001c0002t0005g0043 a0001c0002t0005g0044 a0001c0002t0005g0046 a0001c0002t0005g0053 a0001c0002t0005g0057 a0001c0002t0006g0086 a0001c0002t0028g0076 a0001c0003t0015g0108 a0001c0003t0038g0106 a0001c0005t0007g0002 a0001c0005t0007g0004 a0001c0005t0007g0009 a0001c0005t0018g0003 a0001c0005t0021g0007 a0001c0005t0032g0005 a0001c0006t0009g0038 a0001c0006t0033g0035 a0001c0007t0027g0006 a0001c0010t0006g0087 a0001c0011t0002g0116 a0001c0012t0001g0071 a0001c0013t0009g0078 a0002c0008t0011g0073 a0002c0014t0009g0072	51	128	0.3984	8	c.390 others(27): Show c.3903+1991_3903+1992insCTTTCATT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115729495	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp1 HG01081.hp2 others(11): Show HG00735.hp1 HG01081.hp1 HG01081.hp2 HG01515.hp2 HG02132.hp1 HG02135.hp2 HG02523.hp2 HG02723.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03239.hp1 NA18959.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0029 a0001c0003t0003 a0001c0003t0004 a0001c0005t0007 a0002c0008t0011	a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0002g0077 others(11): Show a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0123 a0001c0001t0003g0061 a0001c0001t0003g0093 a0001c0001t0029g0075 a0001c0003t0003g0049 a0001c0003t0004g0042 a0001c0005t0007g0002 a0001c0005t0007g0004 a0001c0005t0007g0009 a0002c0008t0011g0073	14	128	0.1094	8	c.390 others(27): Show c.3903+2174_3903+2181dupGTGTGTGT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115740494	C C	CCTATCTA others(1): Show CCTATCTAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03195.hp2 HG03834.hp2 HG00639.hp1 HG03195.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0043 a0001c0002t0028 a0001c0012t0001 a0001c0001t0043 a0001c0002t0028 a0001c0012t0001	a0001c0001t0043g0094 a0001c0002t0028g0076 a0001c0012t0001g0071 a0001c0001t0043g0094 a0001c0002t0028g0076 a0001c0012t0001g0071	3	128	0.0234	8	c.390 others(29): Show c.3903+13152_3903+13159dupCTATCTAT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115772593	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01123.hp1 HG01891.hp2 others(10): Show HG00741.hp2 HG01123.hp1 HG01891.hp2 HG02135.hp1 HG02523.hp1 HG02559.hp2 HG02615.hp2 HG02970.hp2 HG03540.hp1 NA18906.hp1 NA19030.hp1 NA19043.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0023 a0001c0001t0025 a0001c0002t0006 a0001c0003t0031	a0001c0001t0001g0036 a0001c0001t0001g0068 a0001c0001t0002g0017 others(10): Show a0001c0001t0001g0036 a0001c0001t0001g0068 a0001c0001t0002g0017 a0001c0001t0003g0066 a0001c0001t0006g0100 a0001c0001t0009g0122 a0001c0001t0010g0018 a0001c0001t0011g0119 a0001c0001t0016g0031 a0001c0001t0023g0022 a0001c0001t0025g0021 a0001c0002t0006g0062 a0001c0003t0031g0016	13	128	0.1016	8	c.390 others(29): Show c.3903+45241_3903+45242insGTGTGTGT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115772597	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02145.hp2 HG02559.hp1 others(5): Show HG00639.hp2 HG02145.hp2 HG02559.hp1 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0008 a0001c0001 a0001c0005 a0002c0008	a0001c0001t0002 a0001c0001t0013 a0001c0001t0035 others(3): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0035 a0001c0005t0007 a0001c0005t0032 a0002c0008t0011	a0001c0001t0002g0015 a0001c0001t0013g0019 a0001c0001t0035g0118 others(5): Show a0001c0001t0002g0015 a0001c0001t0013g0019 a0001c0001t0035g0118 a0001c0005t0007g0002 a0001c0005t0007g0004 a0001c0005t0007g0009 a0001c0005t0032g0005 a0002c0008t0011g0073	8	128	0.0625	8	c.390 others(29): Show c.3903+45270_3903+45277dupGTGTGTGT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115815415	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01081.hp2 others(11): Show HG00735.hp1 HG00741.hp1 HG01081.hp2 HG01109.hp2 HG01515.hp2 HG02055.hp2 HG02135.hp2 HG02300.hp1 HG02572.hp2 HG02818.hp2 HG03239.hp1 HG03453.hp1 HG04115.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0001t0029 a0001c0002t0005 a0001c0003t0003 a0001c0003t0014 a0001c0010t0006 a0001c0015t0034	a0001c0001t0001g0124 a0001c0001t0002g0123 a0001c0001t0003g0061 others(11): Show a0001c0001t0001g0124 a0001c0001t0002g0123 a0001c0001t0003g0061 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0104 a0001c0001t0008g0082 a0001c0001t0011g0112 a0001c0001t0029g0075 a0001c0002t0005g0053 a0001c0003t0003g0049 a0001c0003t0014g0089 a0001c0010t0006g0087 a0001c0015t0034g0110	14	128	0.1094	8	c.390 others(29): Show c.3904-32432_3904-32425dupGTGTGTGT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115856428	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp1 HG02055.hp2 others(2): Show HG01109.hp1 HG02055.hp1 HG02055.hp2 HG03041.hp1 NA18959.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0008 a0001c0001 a0001c0003 a0002c0008	a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0003t0003 a0002c0008t0044	a0001c0001t0002g0077 a0001c0001t0008g0082 a0001c0001t0010g0034 others(2): Show a0001c0001t0002g0077 a0001c0001t0008g0082 a0001c0001t0010g0034 a0001c0003t0003g0060 a0002c0008t0044g0063	5	128	0.0391	8	c.401 others(27): Show c.4018+8452_4018+8459dupAAAAAAAA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3492168	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01261.hp1 HG02486.hp2 others(8): Show HG01106.hp1 HG01261.hp1 HG02486.hp2 HG02572.hp2 HG03130.hp2 HG03486.hp2 HG03704.hp2 HG03942.hp1 NA18953.hp2 NA19043.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0007 others(2): Show a0001 a0003 a0007 a0009 a0016	a0001c0001 a0001c0002 a0001c0013 others(4): Show a0001c0001 a0001c0002 a0001c0013 a0003c0008 a0007c0015 a0009c0019 a0016c0028	a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 others(8): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 a0001c0001t0023 a0001c0002t0003 a0001c0002t0006 a0001c0013t0026 a0003c0008t0029 a0007c0015t0004 a0009c0019t0004 a0016c0028t0001	a0001c0001t0001g0066 a0001c0001t0010g0145 a0001c0001t0015g0005 others(8): Show a0001c0001t0001g0066 a0001c0001t0010g0145 a0001c0001t0015g0005 a0001c0001t0023g0087 a0001c0002t0003g0088 a0001c0002t0006g0073 a0001c0013t0026g0169 a0003c0008t0029g0196 a0007c0015t0004g0026 a0009c0019t0004g0210 a0016c0028t0001g0074	11	220	0.0500	8	c.410 others(27): Show c.410+20680_410+20687dupGTGTGTGT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3492854	G G	GAGGCGCG others(1): Show GAGGCGCGC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18985.hp1 NA19081.hp1 NA18952.hp2 NA18985.hp1 NA19081.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0201 a0001c0007t0006g0202 a0001c0007t0006g0203 a0001c0007t0006g0201 a0001c0007t0006g0202 a0001c0007t0006g0203	3	220	0.0136	8	c.410 others(27): Show c.410+21337_410+21338insAGGCGCGC	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28			chr20	TogoVar
ATRN_chr20_3466018_3656118	3535588	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02895.hp1 HG02897.hp2 others(1): Show HG01884.hp1 HG02895.hp1 HG02897.hp2 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0031 a0001c0003t0037 a0001c0006t0003 a0001c0003t0031 a0001c0003t0037 a0001c0006t0003	a0001c0003t0031g0218 a0001c0003t0037g0194 a0001c0006t0003g0211 others(1): Show a0001c0003t0031g0218 a0001c0003t0037g0194 a0001c0006t0003g0211 a0001c0006t0003g0212	4	220	0.0182	8	c.494 others(23): Show c.494+284_494+291dupCACACACA	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3554305	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(64): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00621.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01243.hp1 HG01257.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01891.hp2 HG01952.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02897.hp1 HG02970.hp1 HG03130.hp2 HG03195.hp2 HG03453.hp2 HG03486.hp1 HG03579.hp1 HG03710.hp2 HG03942.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18961.hp2 NA18966.hp1 NA18985.hp1 NA19030.hp1 NA19064.hp1 NA19075.hp1 NA19075.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19086.hp1 NA19240.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0012 a0017	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0013 a0002c0004 a0002c0012 a0006c0010 a0012c0029 a0017c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0028 a0001c0001t0030 a0001c0001t0033 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0020 a0001c0002t0021 a0001c0002t0022 a0001c0002t0032 a0001c0003t0037 a0001c0007t0006 a0001c0013t0008 a0002c0004t0004 a0002c0004t0016 a0002c0012t0012 a0002c0012t0013 a0002c0012t0019 a0006c0010t0005 a0006c0010t0018 a0012c0029t0002 a0017c0032t0001	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 others(64): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0111 a0001c0001t0001g0123 a0001c0001t0001g0140 a0001c0001t0002g0012 a0001c0001t0002g0065 a0001c0001t0002g0102 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0005g0015 a0001c0001t0005g0056 a0001c0001t0005g0064 a0001c0001t0005g0068 a0001c0001t0005g0121 a0001c0001t0005g0138 a0001c0001t0005g0175 a0001c0001t0009g0022 a0001c0001t0010g0096 a0001c0001t0010g0145 a0001c0001t0012g0208 a0001c0001t0014g0010 a0001c0001t0028g0017 a0001c0001t0030g0143 a0001c0001t0033g0094 a0001c0002t0003g0146 a0001c0002t0003g0220 a0001c0002t0004g0097 a0001c0002t0006g0049 a0001c0002t0006g0050 a0001c0002t0006g0052 a0001c0002t0006g0053 a0001c0002t0006g0067 a0001c0002t0006g0069 a0001c0002t0006g0073 a0001c0002t0006g0164 a0001c0002t0020g0098 a0001c0002t0021g0004 a0001c0002t0022g0024 a0001c0002t0032g0033 a0001c0003t0037g0194 a0001c0007t0006g0201 a0001c0007t0006g0202 a0001c0007t0006g0203 a0001c0013t0008g0171 a0002c0004t0004g0159 a0002c0004t0016g0155 a0002c0004t0016g0156 a0002c0012t0012g0158 a0002c0012t0013g0161 a0002c0012t0019g0157 a0006c0010t0005g0127 a0006c0010t0018g0126 a0006c0010t0018g0128 a0012c0029t0002g0122 a0017c0032t0001g0195	67	220	0.3046	8	c.111 others(27): Show c.1112+5007_1112+5014dupATTTATTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	6/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3576679	A A	ATCTGTCT others(1): Show ATCTGTCTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG01099.hp1 others(19): Show HG00099.hp1 HG00741.hp1 HG01099.hp1 HG01109.hp1 HG01169.hp2 HG01175.hp1 HG01261.hp2 HG01361.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01981.hp2 HG02258.hp2 HG02293.hp2 HG02602.hp1 HG02602.hp2 HG02897.hp1 HG03041.hp1 HG03139.hp2 NA18957.hp2 NA19043.hp2 NA20805.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0013c0024	a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 others(9): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0015 a0001c0001t0033 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0022 a0001c0007t0003 a0013c0024t0003	a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0113 others(19): Show a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0113 a0001c0001t0005g0120 a0001c0001t0005g0175 a0001c0001t0012g0115 a0001c0001t0015g0005 a0001c0001t0033g0094 a0001c0002t0003g0063 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0003g0085 a0001c0002t0003g0147 a0001c0002t0004g0097 a0001c0002t0006g0049 a0001c0002t0006g0069 a0001c0002t0008g0081 a0001c0002t0008g0130 a0001c0002t0022g0024 a0001c0007t0003g0185 a0001c0007t0003g0193 a0013c0024t0003g0054	22	220	0.1000	8	c.221 others(25): Show c.2215-168_2215-161dupGTCTGTCT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3576695	G G	GTCTATCT others(1): Show GTCTATCTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG01081.hp1 others(7): Show HG00140.hp2 HG00733.hp2 HG01081.hp1 HG01106.hp2 HG01433.hp1 HG02109.hp2 HG02559.hp1 HG02615.hp2 HG02717.hp2 HG03579.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0005 a0002c0004 others(2): Show a0001c0003 a0001c0005 a0002c0004 a0002c0012 a0003c0018	a0001c0003t0005 a0001c0005t0007 a0002c0004t0004 others(4): Show a0001c0003t0005 a0001c0005t0007 a0002c0004t0004 a0002c0012t0012 a0002c0012t0013 a0002c0012t0019 a0003c0018t0007	a0001c0003t0005g0178 a0001c0005t0007g0181 a0001c0005t0007g0191 others(7): Show a0001c0003t0005g0178 a0001c0005t0007g0181 a0001c0005t0007g0191 a0001c0005t0007g0192 a0002c0004t0004g0159 a0002c0004t0004g0160 a0002c0012t0012g0158 a0002c0012t0013g0161 a0002c0012t0019g0157 a0003c0018t0007g0200	10	220	0.0455	8	c.221 others(25): Show c.2215-132_2215-125dupATCTATCT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3576695	G G	GTCTGTCT others(1): Show GTCTGTCTA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01496.hp1 HG02280.hp1 others(2): Show HG01071.hp2 HG01496.hp1 HG02280.hp1 HG03486.hp2 HG03490.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0015 others(1): Show a0001c0001 a0001c0002 a0007c0015 a0007c0027	a0001c0001t0005 a0001c0002t0003 a0007c0015t0004 others(2): Show a0001c0001t0005 a0001c0002t0003 a0007c0015t0004 a0007c0015t0024 a0007c0027t0014	a0001c0001t0005g0080 a0001c0002t0003g0075 a0007c0015t0004g0026 others(2): Show a0001c0001t0005g0080 a0001c0002t0003g0075 a0007c0015t0004g0026 a0007c0015t0024g0137 a0007c0027t0014g0029	5	220	0.0227	8	c.221 others(25): Show c.2215-161_2215-160insGTCTATCT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3587827	C C	CTGTTTGT others(1): Show CTGTTTGTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03195.hp1 HG02647.hp2 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0035 a0001c0003t0010 a0001c0003t0035	a0001c0003t0010g0206 a0001c0003t0035g0205 a0001c0003t0010g0206 a0001c0003t0035g0205	2	220	0.0091	8	c.318 others(27): Show c.3184+2976_3184+2983dupTGTTTGTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3609714	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01109.hp2 HG02165.hp2 others(12): Show HG00738.hp1 HG01109.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02559.hp2 HG02572.hp1 HG02809.hp1 HG02895.hp2 HG02970.hp1 HG03130.hp2 HG03540.hp1 NA18966.hp1 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 others(7): Show a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0030 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0017 a0001c0003t0005	a0001c0001t0010g0011 a0001c0001t0010g0145 a0001c0001t0013g0107 others(12): Show a0001c0001t0010g0011 a0001c0001t0010g0145 a0001c0001t0013g0107 a0001c0001t0014g0010 a0001c0001t0030g0143 a0001c0002t0003g0023 a0001c0002t0003g0146 a0001c0002t0004g0030 a0001c0002t0004g0092 a0001c0002t0004g0124 a0001c0002t0004g0134 a0001c0002t0006g0053 a0001c0002t0008g0081 a0001c0002t0017g0079 a0001c0003t0005g0190	15	220	0.0682	8	c.380 others(27): Show c.3801+5482_3801+5489dupGTGTGTGT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	24/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3635363	T T	TAATAAAT others(1): Show TAATAAATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp1 HG03041.hp1 others(2): Show HG02145.hp1 HG02559.hp1 HG03041.hp1 HG03516.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0012 a0001c0001 a0002c0012	a0001c0001t0012 a0001c0001t0027 a0002c0012t0012 a0001c0001t0012 a0001c0001t0027 a0002c0012t0012	a0001c0001t0012g0115 a0001c0001t0012g0133 a0001c0001t0012g0208 others(2): Show a0001c0001t0012g0115 a0001c0001t0012g0133 a0001c0001t0012g0208 a0001c0001t0027g0095 a0002c0012t0012g0158	5	220	0.0227	8	c.394 others(26): Show c.3942+999_3942+1006dupAATAAATA	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77538230	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA19084.hp2 NA20129.hp2 HG01243.hp1 NA19084.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0194 a0001c0001t0008g0005 a0001c0001t0008g0077 a0001c0001t0004g0194 a0001c0001t0008g0005 a0001c0001t0008g0077	3	218	0.0138	8	c.670 others(29): Show c.6700-14837_6700-14830dupGTGTGTGT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	30/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77556211	A A	AAGGGAGA others(1): Show AAGGGAGAG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02165.hp1 HG02615.hp1 others(8): Show HG02040.hp1 HG02165.hp1 HG02615.hp1 HG03486.hp2 HG03831.hp1 NA18906.hp1 NA18943.hp1 NA18973.hp1 NA18973.hp2 NA19001.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0002c0002t0001	a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0002g0105 others(8): Show a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0002g0105 a0001c0001t0002g0130 a0001c0001t0002g0144 a0001c0001t0002g0216 a0001c0001t0004g0122 a0001c0001t0004g0185 a0001c0001t0004g0192 a0001c0001t0006g0179 a0002c0002t0001g0054	11	218	0.0505	8	c.669 others(27): Show c.6699+1232_6699+1239dupCTCTCCCT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	30/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77556278	G G	GAAGAGGG others(1): Show GAAGAGGGA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0005 a0001c0001t0008g0005	1	218	0.0046	8	c.669 others(27): Show c.6699+1172_6699+1173insTCCCTCTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	30/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77585583	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA18982.hp1 HG03927.hp2 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0041 a0002c0002t0001g0010 a0002c0002t0001g0041	2	218	0.0092	8	c.621 others(27): Show c.6217+4243_6217+4250dupTTTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	27/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77651217	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01975.hp2 HG02451.hp2 others(2): Show HG00558.hp2 HG01975.hp2 HG02451.hp2 NA18965.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0071 a0001c0001t0003g0115 a0001c0001t0004g0187 others(2): Show a0001c0001t0002g0071 a0001c0001t0003g0115 a0001c0001t0004g0187 a0001c0001t0004g0194 a0001c0001t0004g0205	5	218	0.0229	8	c.455 others(25): Show c.4557+889_4557+896dupTTTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	15/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77667295	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG02135.hp1 others(2): Show HG01257.hp2 HG01258.hp1 HG02135.hp1 HG02683.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0013t0002 a0001c0001t0001 a0001c0001t0002 a0001c0013t0002	a0001c0001t0001g0132 a0001c0001t0002g0120 a0001c0001t0002g0133 others(2): Show a0001c0001t0001g0132 a0001c0001t0002g0120 a0001c0001t0002g0133 a0001c0001t0002g0172 a0001c0013t0002g0212	5	218	0.0229	8	c.381 others(27): Show c.3810-2525_3810-2518dupCACACACA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77671165	A A	AATATATA others(1): Show AATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0044 a0002c0002t0001g0044	1	218	0.0046	8	c.380 others(27): Show c.3809+5060_3809+5061insATATATAT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77671167	A A	AAAAAATA others(1): Show AAAAAATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp1 HG01256.hp1 others(4): Show HG00642.hp1 HG01099.hp1 HG01256.hp1 HG01928.hp1 HG01975.hp1 HG03490.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0004t0003	a0002c0002t0001g0022 a0002c0002t0001g0026 a0002c0002t0001g0040 others(4): Show a0002c0002t0001g0022 a0002c0002t0001g0026 a0002c0002t0001g0040 a0002c0002t0002g0012 a0002c0004t0001g0009 a0002c0004t0001g0031 a0002c0004t0003g0030	7	218	0.0321	8	c.380 others(27): Show c.3809+5058_3809+5059insATATTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77671167	A A	AAAATATA others(1): Show AAAATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG01192.hp1 others(10): Show HG00140.hp1 HG00323.hp1 HG01192.hp1 HG02027.hp1 HG02080.hp1 HG02083.hp1 HG02735.hp1 HG02738.hp1 HG03195.hp1 HG03492.hp1 HG03688.hp1 HG03942.hp1 NA19056.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0006 a0002c0002 a0003c0006	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0003c0006t0001	a0002c0002t0001g0024 a0002c0002t0001g0034 a0002c0002t0001g0042 others(10): Show a0002c0002t0001g0024 a0002c0002t0001g0034 a0002c0002t0001g0042 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0002g0020 a0002c0002t0002g0047 a0002c0002t0002g0052 a0002c0002t0002g0210 a0002c0002t0003g0021 a0002c0002t0003g0027 a0002c0002t0003g0177 a0003c0006t0001g0015	13	218	0.0596	8	c.380 others(27): Show c.3809+5058_3809+5059insATATATTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77671167	A A	AATATATA others(1): Show AATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0193 a0001c0001t0018g0193	1	218	0.0046	8	c.380 others(27): Show c.3809+5051_3809+5058dupATATATAT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77692846	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18983.hp1 NA18985.hp1 HG02074.hp1 NA18983.hp1 NA18985.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0006 a0002c0002t0001 a0001c0001t0002 a0001c0001t0006 a0002c0002t0001	a0001c0001t0002g0128 a0001c0001t0006g0214 a0002c0002t0001g0060 a0001c0001t0002g0128 a0001c0001t0006g0214 a0002c0002t0001g0060	3	218	0.0138	8	c.484 others(23): Show c.484+970_484+977dupACACACAC	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	6/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77716110	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	218	0.0046	8	c.133 others(25): Show c.133+1013_133+1020dupAAAAAAAA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	2/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77734208	A A	AATACATA others(1): Show AATACATAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19084.hp1 HG03225.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0005 a0001c0001t0002 a0001c0007t0005	a0001c0001t0002g0099 a0001c0007t0005g0079 a0001c0001t0002g0099 a0001c0007t0005g0079	2	218	0.0092	8	c.21- others(25): Show c.21-16973_21-16966dupGTATGTAT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77735598	C C	CTAAATAA others(1): Show CTAAATAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp2 HG01099.hp1 others(45): Show HG00280.hp1 HG01070.hp2 HG01099.hp1 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG02027.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02145.hp1 HG02273.hp2 HG02683.hp2 HG02738.hp1 HG03017.hp1 HG03195.hp1 HG03688.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp1 NA18955.hp1 NA18959.hp1 NA18964.hp2 NA18967.hp1 NA18969.hp1 NA18977.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA19000.hp1 NA19011.hp1 NA19056.hp1 NA19074.hp2 NA19083.hp1 NA19088.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0004 a0003c0006 a0002c0002 a0002c0004 a0003c0006	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(7): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0013 a0002c0002t0015 a0002c0002t0016 a0002c0004t0001 a0002c0004t0003 a0003c0006t0001	a0002c0002t0001g0010 a0002c0002t0001g0013 a0002c0002t0001g0016 others(45): Show a0002c0002t0001g0010 a0002c0002t0001g0013 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0022 a0002c0002t0001g0028 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0097 a0002c0002t0001g0109 a0002c0002t0001g0117 a0002c0002t0001g0141 a0002c0002t0001g0204 a0002c0002t0002g0020 a0002c0002t0002g0037 a0002c0002t0002g0047 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0065 a0002c0002t0002g0110 a0002c0002t0002g0206 a0002c0002t0002g0208 a0002c0002t0002g0210 a0002c0002t0003g0019 a0002c0002t0003g0025 a0002c0002t0006g0207 a0002c0002t0013g0008 a0002c0002t0015g0043 a0002c0002t0016g0046 a0002c0004t0001g0009 a0002c0004t0001g0023 a0002c0004t0001g0031 a0002c0004t0001g0055 a0002c0004t0003g0030 a0003c0006t0001g0159	48	218	0.2202	8	c.21- others(25): Show c.21-18363_21-18356dupTTTATTTA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77735635	T T	TAAATAAA others(1): Show TAAATAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA20905.hp1 HG00642.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0011 a0002c0002t0002g0012 a0002c0002t0001g0011 a0002c0002t0002g0012	2	218	0.0092	8	c.21- others(25): Show c.21-18393_21-18392insTTTTATTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77767236	G G	GGAGAGGG others(1): Show GGAGAGGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01109.hp1 HG01243.hp1 others(5): Show HG00140.hp1 HG01109.hp1 HG01243.hp1 HG02071.hp1 HG02083.hp1 HG02738.hp1 HG03453.hp2 NA19056.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0009 a0001c0001 a0002c0002 a0005c0009	a0001c0001t0008 a0001c0001t0021 a0002c0002t0001 others(2): Show a0001c0001t0008 a0001c0001t0021 a0002c0002t0001 a0002c0002t0002 a0005c0009t0010	a0001c0001t0008g0077 a0001c0001t0021g0078 a0002c0002t0001g0034 others(5): Show a0001c0001t0008g0077 a0001c0001t0021g0078 a0002c0002t0001g0034 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0002g0206 a0002c0002t0002g0210 a0005c0009t0010g0086	8	218	0.0367	8	c.20+ others(25): Show c.20+18738_20+18745dupTCCCTCTC	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77774882	T T	TTTTGTTT others(1): Show TTTTGTTTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0066 a0001c0001t0007g0066	1	218	0.0046	8	c.20+ others(25): Show c.20+11092_20+11099dupCAAACAAA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77775715	C C	CTTTATTT others(1): Show CTTTATTTA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp2 HG01258.hp1 others(7): Show HG01257.hp1 HG01257.hp2 HG01258.hp1 HG02074.hp1 HG02273.hp2 HG02683.hp1 HG02683.hp2 HG03017.hp1 HG03942.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0013 a0002c0002 others(1): Show a0001c0001 a0001c0013 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0013t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0013t0002 a0002c0002t0001 a0002c0002t0003 a0003c0006t0001	a0001c0001t0001g0132 a0001c0001t0002g0133 a0001c0001t0002g0182 others(7): Show a0001c0001t0001g0132 a0001c0001t0002g0133 a0001c0001t0002g0182 a0001c0013t0002g0212 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0060 a0002c0002t0001g0141 a0002c0002t0003g0177 a0003c0006t0001g0159	10	218	0.0459	8	c.20+ others(25): Show c.20+10259_20+10266dupTAAATAAA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77790934	G G	GTATATAT others(1): Show GTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG02165.hp2 HG04184.hp1 others(4): Show HG00323.hp2 HG02165.hp2 HG04184.hp1 NA18612.hp1 NA18943.hp1 NA18985.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0121 others(4): Show a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0121 a0001c0001t0001g0149 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0006g0214	7	218	0.0321	8	c.-49 others(19): Show c.-4934_-4933insTATATATA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding		4719		chrX	TogoVar
ATR_chr3_142444235_142583733	142472085	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01258.hp1 HG02145.hp2 others(4): Show HG00735.hp1 HG01258.hp1 HG02145.hp2 HG02280.hp1 HG02735.hp2 HG02970.hp1 NA20300.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0004 a0010c0014 a0001c0001 a0001c0004 a0010c0014	a0001c0001t0001 a0001c0004t0001 a0010c0014t0001 a0001c0001t0001 a0001c0004t0001 a0010c0014t0001	a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 others(4): Show a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0143 a0001c0004t0001g0157 a0001c0004t0001g0206 a0010c0014t0001g0031	7	322	0.0217	8	c.622 others(27): Show c.6222-1910_6222-1903dupCACACACA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	36/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142496278	C C	CTATATAT others(1): Show CTATATATA	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18942.hp1 NA18963.hp1 others(4): Show HG04228.hp1 NA18942.hp1 NA18963.hp1 NA18967.hp1 NA18986.hp1 NA18999.hp1 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0243 a0002c0002t0001g0257 a0002c0002t0001g0262 others(4): Show a0002c0002t0001g0243 a0002c0002t0001g0257 a0002c0002t0001g0262 a0002c0002t0001g0264 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0301	7	322	0.0217	8	c.589 others(23): Show c.5898+75_5898+82dupTATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528854	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18961.hp1 NA18986.hp2 NA18944.hp1 NA18961.hp1 NA18986.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0176 a0003c0003t0001g0001 a0003c0003t0001g0176	3	322	0.0093	8	c.394 others(27): Show c.3946-4663_3946-4656dupATATATAT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528877	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01346.hp2 HG02145.hp1 others(2): Show HG01256.hp2 HG01346.hp2 HG02145.hp1 HG02976.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0051 a0001c0001t0001g0086 others(2): Show a0001c0001t0001g0026 a0001c0001t0001g0051 a0001c0001t0001g0086 a0001c0001t0001g0102 a0001c0001t0001g0141	5	322	0.0155	8	c.394 others(27): Show c.3946-4679_3946-4678insAAAAAAAA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATTTTT others(1): Show ATATTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01258.hp1 HG01496.hp1 others(5): Show HG01192.hp1 HG01258.hp1 HG01496.hp1 HG01884.hp2 HG02071.hp2 HG02886.hp1 HG03486.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0130 others(5): Show a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0004t0001g0210	8	322	0.0248	8	c.394 others(27): Show c.3946-4681_3946-4680insAAAAAATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp1 HG01109.hp2 others(15): Show HG00738.hp2 HG00741.hp1 HG01109.hp2 HG01361.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02723.hp2 HG02818.hp1 HG02965.hp1 HG03209.hp1 HG03225.hp1 NA18522.hp1 NA18906.hp1 NA19056.hp2 NA19077.hp2 NA19085.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0065 a0001c0001t0001g0066 others(15): Show a0001c0001t0001g0046 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0001g0140	18	322	0.0559	8	c.394 others(27): Show c.3946-4688_3946-4681dupAAAAAAAA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142558523	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02148.hp2 HG02165.hp2 others(8): Show HG01081.hp1 HG02148.hp2 HG02165.hp2 NA18951.hp1 NA18956.hp1 NA18957.hp2 NA18982.hp2 NA18987.hp1 NA19010.hp2 NA19068.hp2 NA19087.hp1	a0002 a0003 a0002 a0003	a0002c0005 a0003c0003 a0002c0005 a0003c0003	a0002c0005t0001 a0003c0003t0001 a0002c0005t0001 a0003c0003t0001	a0002c0005t0001g0214 a0002c0005t0001g0280 a0002c0005t0001g0281 others(8): Show a0002c0005t0001g0214 a0002c0005t0001g0280 a0002c0005t0001g0281 a0002c0005t0001g0282 a0002c0005t0001g0283 a0002c0005t0001g0284 a0002c0005t0001g0285 a0002c0005t0001g0286 a0002c0005t0001g0287 a0002c0005t0001g0309 a0003c0003t0001g0175	11	322	0.0342	8	c.188 others(24): Show c.1885+93_1885+100dupATTTATTT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	8/46			chr3	TogoVar

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