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
ABCA12_chr2_214926542_215143626	215105599	A A	ACACACG ACACACG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02717.hp1 HG03486.hp1 HG02280.hp1 HG02717.hp1 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0051 a0001c0005 a0001c0051	a0001c0005t0003 a0001c0005t0005 a0001c0051t0004 a0001c0005t0003 a0001c0005t0005 a0001c0051t0004	a0001c0005t0003g0077 a0001c0005t0005g0075 a0001c0051t0004g0076 a0001c0005t0003g0077 a0001c0005t0005g0075 a0001c0051t0004g0076	3	198	0.0152	6	c.163 others(23): Show c.163+5997_163+5998insCGTGTG	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	2/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215134422	A A	ATATGCG ATATGCG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02896.hp1 HG03139.hp2 others(2): Show HG02647.hp2 HG02896.hp1 HG03139.hp2 HG03516.hp1 HG03669.hp2	a0001 a0002 a0018 a0001 a0002 a0018	a0001c0044 a0002c0007 a0002c0057 others(1): Show a0001c0044 a0002c0007 a0002c0057 a0018c0048	a0001c0044t0004 a0002c0007t0006 a0002c0057t0006 others(1): Show a0001c0044t0004 a0002c0007t0006 a0002c0057t0006 a0018c0048t0001	a0001c0044t0004g0067 a0002c0007t0006g0175 a0002c0007t0006g0176 others(2): Show a0001c0044t0004g0067 a0002c0007t0006g0175 a0002c0007t0006g0176 a0002c0057t0006g0177 a0018c0048t0001g0068	5	198	0.0253	6	c.69+ others(21): Show c.69+3717_69+3718insCGCATA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	1/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215142949	T T	TTTTTTG TTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00741.hp2 HG01123.hp2 others(64): Show HG00140.hp2 HG00741.hp2 HG01123.hp2 HG01243.hp1 HG01255.hp2 HG01258.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG02004.hp1 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0020	a0001c0004 a0001c0005 a0001c0010 others(32): Show a0001c0004 a0001c0005 a0001c0010 a0001c0011 a0001c0012 a0001c0015 a0001c0016 a0001c0022 a0001c0025 a0001c0043 a0001c0051 a0001c0068 a0002c0007 a0002c0008 a0002c0013 a0002c0017 a0002c0027 a0002c0054 a0002c0058 a0003c0014 a0003c0020 a0003c0065 a0003c0066 a0003c0067 a0004c0018 a0004c0059 a0004c0060 a0004c0061 a0005c0062 a0005c0063 a0005c0064 a0006c0019 a0007c0024 a0008c0028 a0020c0036	a0001c0004t0001 a0001c0005t0003 a0001c0005t0005 others(43): Show a0001c0004t0001 a0001c0005t0003 a0001c0005t0005 a0001c0010t0004 a0001c0010t0009 a0001c0011t0001 a0001c0011t0005 a0001c0012t0014 a0001c0015t0007 a0001c0015t0009 a0001c0016t0002 a0001c0022t0006 a0001c0022t0019 a0001c0025t0015 a0001c0043t0006 a0001c0051t0004 a0001c0068t0003 a0002c0007t0002 a0002c0007t0003 a0002c0007t0017 a0002c0008t0007 a0002c0013t0018 a0002c0017t0009 a0002c0017t0016 a0002c0027t0003 a0002c0054t0009 a0002c0058t0002 a0003c0014t0002 a0003c0014t0006 a0003c0020t0001 a0003c0020t0003 a0003c0065t0001 a0003c0066t0004 a0003c0067t0025 a0004c0018t0005 a0004c0018t0021 a0004c0059t0004 a0004c0060t0006 a0004c0061t0015 a0005c0062t0004 a0005c0063t0003 a0005c0064t0004 a0006c0019t0001 a0007c0024t0005 a0008c0028t0003 a0020c0036t0001	a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0005t0003g0077 others(64): Show a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0005t0003g0077 a0001c0005t0005g0075 a0001c0005t0005g0109 a0001c0005t0005g0110 a0001c0005t0005g0111 a0001c0010t0004g0113 a0001c0010t0004g0114 a0001c0010t0009g0001 a0001c0011t0001g0085 a0001c0011t0001g0087 a0001c0011t0005g0088 a0001c0011t0005g0089 a0001c0012t0014g0015 a0001c0012t0014g0097 a0001c0015t0007g0009 a0001c0015t0007g0013 a0001c0015t0009g0006 a0001c0016t0002g0086 a0001c0016t0002g0090 a0001c0022t0006g0112 a0001c0022t0019g0014 a0001c0025t0015g0182 a0001c0043t0006g0022 a0001c0051t0004g0076 a0001c0068t0003g0016 a0002c0007t0002g0105 a0002c0007t0003g0069 a0002c0007t0017g0012 a0002c0008t0007g0003 a0002c0008t0007g0005 a0002c0008t0007g0008 a0002c0008t0007g0010 a0002c0008t0007g0011 a0002c0013t0018g0002 a0002c0017t0009g0007 a0002c0017t0016g0179 a0002c0017t0016g0180 a0002c0027t0003g0073 a0002c0027t0003g0074 a0002c0054t0009g0004 a0002c0058t0002g0072 a0003c0014t0002g0101 a0003c0014t0006g0102 a0003c0014t0006g0107 a0003c0020t0001g0106 a0003c0020t0003g0108 a0003c0065t0001g0103 a0003c0066t0004g0104 a0003c0067t0025g0183 a0004c0018t0005g0095 a0004c0018t0021g0082 a0004c0059t0004g0071 a0004c0060t0006g0080 a0004c0061t0015g0181 a0005c0062t0004g0078 a0005c0063t0003g0079 a0005c0064t0004g0070 a0006c0019t0001g0096 a0006c0019t0001g0099 a0006c0019t0001g0100 a0007c0024t0005g0093 a0007c0024t0005g0094 a0008c0028t0003g0081 a0008c0028t0003g0083 a0020c0036t0001g0084	67	198	0.3384	6	c.-47 others(17): Show c.-4742_-4741insCAAAAA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding		4324		chr2	TogoVar
ABCA13_chr7_48166458_48652497	48178975	C C	CCAATAA CCAATAA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18991.hp1 NA18986.hp1 NA18991.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0003 a0001c0001t0001 a0005c0005t0003	a0001c0001t0001g0058 a0005c0005t0003g0103 a0001c0001t0001g0058 a0005c0005t0003g0103	2	178	0.0112	6	c.69+ others(21): Show c.69+7423_69+7424insCAATAA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	1/61			chr7	TogoVar
ABCA13_chr7_48166458_48652497	48187017	G G	GTATATA GTATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03098.hp2 HG03041.hp1 HG03098.hp2	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0002 a0014c0019t0002	a0014c0019t0002g0136 a0014c0019t0002g0175 a0014c0019t0002g0136 a0014c0019t0002g0175	2	178	0.0112	6	c.70- others(21): Show c.70-5941_70-5940insATATAT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	1/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48187019	G G	GTATATA GTATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02886.hp1 HG03834.hp1 HG02622.hp2 HG02886.hp1 HG03834.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0008 a0007c0011 a0001c0001 a0004c0008 a0007c0011	a0001c0001t0004 a0004c0008t0005 a0007c0011t0007 a0001c0001t0004 a0004c0008t0005 a0007c0011t0007	a0001c0001t0004g0164 a0004c0008t0005g0169 a0007c0011t0007g0165 a0001c0001t0004g0164 a0004c0008t0005g0169 a0007c0011t0007g0165	3	178	0.0169	6	c.70- others(21): Show c.70-5928_70-5923dupATATAT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	1/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48189360	G G	GGGTGAT GGGTGAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00558.hp2 others(65): Show HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00735.hp2 HG00741.hp2 HG01167.hp2 HG01192.hp1 HG01243.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp1 HG03486.hp2 HG03540.hp2 HG03654.hp1 HG04204.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18944.hp2 NA18953.hp1 NA18959.hp1 NA18961.hp2 NA18971.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18986.hp2 NA18987.hp1 NA18991.hp1 NA18992.hp1 NA18994.hp2 NA18998.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19074.hp2 NA19083.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1	a0001 a0002 a0004 others(40): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0018 a0020 a0022 a0023 a0028 a0029 a0031 a0038 a0039 a0040 a0041 a0042 a0044 a0049 a0051 a0052 a0056 a0063 a0065 a0066 a0068 a0069 a0070 a0071 a0072 a0076 a0077 a0080 a0085 a0086 a0088	a0001c0001 a0002c0002 a0002c0022 others(49): Show a0001c0001 a0002c0002 a0002c0022 a0002c0065 a0004c0009 a0005c0005 a0005c0024 a0006c0007 a0006c0023 a0007c0011 a0007c0101 a0008c0013 a0009c0012 a0009c0107 a0010c0031 a0011c0044 a0011c0046 a0012c0016 a0012c0043 a0014c0019 a0018c0029 a0020c0034 a0020c0109 a0022c0020 a0023c0018 a0028c0015 a0029c0014 a0031c0092 a0038c0108 a0039c0110 a0040c0111 a0041c0112 a0042c0113 a0044c0058 a0049c0055 a0051c0053 a0052c0052 a0056c0050 a0063c0071 a0065c0091 a0066c0062 a0068c0067 a0069c0066 a0070c0064 a0071c0038 a0072c0069 a0076c0083 a0077c0082 a0080c0090 a0085c0060 a0086c0059 a0088c0037	a0001c0001t0001 a0001c0001t0006 a0002c0002t0001 others(55): Show a0001c0001t0001 a0001c0001t0006 a0002c0002t0001 a0002c0002t0004 a0002c0022t0002 a0002c0065t0006 a0004c0009t0001 a0005c0005t0003 a0005c0024t0003 a0006c0007t0002 a0006c0007t0003 a0006c0023t0003 a0007c0011t0003 a0007c0101t0003 a0008c0013t0001 a0008c0013t0002 a0009c0012t0002 a0009c0107t0001 a0010c0031t0003 a0011c0044t0001 a0011c0046t0002 a0012c0016t0001 a0012c0043t0002 a0014c0019t0002 a0018c0029t0001 a0020c0034t0003 a0020c0109t0001 a0022c0020t0005 a0023c0018t0001 a0023c0018t0004 a0028c0015t0004 a0029c0014t0005 a0029c0014t0010 a0031c0092t0004 a0038c0108t0001 a0039c0110t0007 a0040c0111t0006 a0041c0112t0011 a0042c0113t0003 a0044c0058t0001 a0049c0055t0003 a0051c0053t0004 a0052c0052t0001 a0056c0050t0004 a0063c0071t0005 a0065c0091t0001 a0066c0062t0003 a0068c0067t0009 a0069c0066t0001 a0070c0064t0001 a0071c0038t0005 a0072c0069t0001 a0076c0083t0003 a0077c0082t0005 a0080c0090t0005 a0085c0060t0001 a0086c0059t0003 a0088c0037t0005	a0001c0001t0001g0133 a0001c0001t0006g0178 a0002c0002t0001g0131 others(65): Show a0001c0001t0001g0133 a0001c0001t0006g0178 a0002c0002t0001g0131 a0002c0002t0004g0106 a0002c0002t0004g0140 a0002c0022t0002g0124 a0002c0065t0006g0128 a0004c0009t0001g0116 a0005c0005t0003g0090 a0005c0005t0003g0102 a0005c0005t0003g0103 a0005c0005t0003g0132 a0005c0024t0003g0107 a0006c0007t0002g0129 a0006c0007t0003g0121 a0006c0007t0003g0137 a0006c0023t0003g0138 a0006c0023t0003g0171 a0007c0011t0003g0130 a0007c0101t0003g0139 a0008c0013t0001g0111 a0008c0013t0002g0088 a0009c0012t0002g0094 a0009c0107t0001g0112 a0010c0031t0003g0115 a0010c0031t0003g0118 a0011c0044t0001g0096 a0011c0046t0002g0089 a0012c0016t0001g0087 a0012c0016t0001g0108 a0012c0043t0002g0098 a0014c0019t0002g0136 a0014c0019t0002g0175 a0018c0029t0001g0134 a0020c0034t0003g0117 a0020c0109t0001g0120 a0022c0020t0005g0123 a0023c0018t0001g0110 a0023c0018t0004g0091 a0028c0015t0004g0173 a0028c0015t0004g0176 a0029c0014t0005g0119 a0029c0014t0010g0174 a0031c0092t0004g0095 a0038c0108t0001g0113 a0039c0110t0007g0126 a0040c0111t0006g0031 a0041c0112t0011g0114 a0042c0113t0003g0093 a0044c0058t0001g0101 a0049c0055t0003g0125 a0051c0053t0004g0122 a0052c0052t0001g0097 a0056c0050t0004g0099 a0063c0071t0005g0105 a0065c0091t0001g0109 a0066c0062t0003g0141 a0068c0067t0009g0142 a0069c0066t0001g0143 a0070c0064t0001g0127 a0071c0038t0005g0135 a0072c0069t0001g0144 a0076c0083t0003g0145 a0077c0082t0005g0146 a0080c0090t0005g0104 a0085c0060t0001g0100 a0086c0059t0003g0172 a0088c0037t0005g0092	68	178	0.3820	6	c.70- others(21): Show c.70-3599_70-3598insGGTGAT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	1/61			chr7	TogoVar
ABCA13_chr7_48166458_48652497	48219883	A A	AACACAC AACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01192.hp1 HG01993.hp1 others(1): Show HG00544.hp2 HG01192.hp1 HG01993.hp1 NA18942.hp2	a0007 a0031 a0053 a0007 a0031 a0053	a0007c0011 a0007c0101 a0031c0092 others(1): Show a0007c0011 a0007c0101 a0031c0092 a0053c0051	a0007c0011t0003 a0007c0101t0003 a0031c0092t0004 others(1): Show a0007c0011t0003 a0007c0101t0003 a0031c0092t0004 a0053c0051t0001	a0007c0011t0003g0130 a0007c0101t0003g0139 a0031c0092t0004g0095 others(1): Show a0007c0011t0003g0130 a0007c0101t0003g0139 a0031c0092t0004g0095 a0053c0051t0001g0026	4	178	0.0225	6	c.439 others(21): Show c.439+424_439+429dupCACACA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	4/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48231656	C C	CTATTAT CTATTAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00738.hp1 HG00741.hp1 others(30): Show HG00544.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01123.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02083.hp1 HG02717.hp1 HG02809.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03471.hp1 HG03492.hp2 HG03579.hp1 HG03654.hp1 NA18942.hp1 NA18953.hp1 NA18959.hp2 NA18991.hp2 NA18994.hp2 NA19007.hp2 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0003 a0009 a0011 others(14): Show a0003 a0009 a0011 a0012 a0014 a0015 a0023 a0031 a0044 a0052 a0053 a0056 a0061 a0062 a0065 a0085 a0088	a0003c0003 a0003c0004 a0009c0012 others(20): Show a0003c0003 a0003c0004 a0009c0012 a0011c0017 a0011c0044 a0011c0046 a0012c0016 a0012c0043 a0014c0019 a0014c0047 a0015c0025 a0015c0076 a0023c0018 a0031c0092 a0044c0058 a0052c0052 a0053c0051 a0056c0050 a0061c0074 a0062c0075 a0065c0091 a0085c0060 a0088c0037	a0003c0003t0004 a0003c0004t0001 a0003c0004t0002 others(23): Show a0003c0003t0004 a0003c0004t0001 a0003c0004t0002 a0003c0004t0004 a0009c0012t0002 a0011c0017t0002 a0011c0017t0003 a0011c0044t0001 a0011c0046t0002 a0012c0016t0001 a0012c0043t0002 a0014c0019t0002 a0014c0047t0001 a0015c0025t0003 a0015c0076t0001 a0023c0018t0001 a0031c0092t0004 a0044c0058t0001 a0052c0052t0001 a0053c0051t0001 a0056c0050t0004 a0061c0074t0001 a0062c0075t0005 a0065c0091t0001 a0085c0060t0001 a0088c0037t0005	a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0004g0034 others(30): Show a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0004g0034 a0003c0003t0004g0036 a0003c0004t0001g0033 a0003c0004t0002g0032 a0003c0004t0002g0035 a0003c0004t0004g0030 a0009c0012t0002g0094 a0011c0017t0002g0048 a0011c0017t0003g0067 a0011c0044t0001g0096 a0011c0046t0002g0089 a0012c0016t0001g0087 a0012c0016t0001g0108 a0012c0043t0002g0098 a0014c0019t0002g0136 a0014c0019t0002g0175 a0014c0047t0001g0155 a0015c0025t0003g0024 a0015c0025t0003g0025 a0015c0076t0001g0021 a0023c0018t0001g0110 a0031c0092t0004g0095 a0044c0058t0001g0101 a0052c0052t0001g0097 a0053c0051t0001g0026 a0056c0050t0004g0099 a0061c0074t0001g0022 a0062c0075t0005g0023 a0065c0091t0001g0109 a0085c0060t0001g0100 a0088c0037t0005g0092	33	178	0.1854	6	c.763 others(23): Show c.763+1719_763+1724dupTTATTA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	7/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48232139	A A	ATTTTTT ATTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18991.hp1 NA18998.hp1 others(2): Show HG00408.hp2 NA18991.hp1 NA18998.hp1 NA19010.hp2 NA19074.hp2	a0002 a0005 a0066 a0002 a0005 a0066	a0002c0022 a0005c0005 a0066c0062 a0002c0022 a0005c0005 a0066c0062	a0002c0022t0002 a0005c0005t0003 a0066c0062t0003 a0002c0022t0002 a0005c0005t0003 a0066c0062t0003	a0002c0022t0002g0124 a0005c0005t0003g0090 a0005c0005t0003g0102 others(2): Show a0002c0022t0002g0124 a0005c0005t0003g0090 a0005c0005t0003g0102 a0005c0005t0003g0103 a0066c0062t0003g0141	5	178	0.0281	6	c.764 others(23): Show c.764-1859_764-1854dupTTTTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	7/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48278070	G G	GTATATA GTATATA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02723.hp2 HG06807.hp1 HG02723.hp2 HG06807.hp1	a0057 a0058 a0057 a0058	a0057c0036 a0058c0035 a0057c0036 a0058c0035	a0057c0036t0007 a0058c0035t0002 a0057c0036t0007 a0058c0035t0002	a0057c0036t0007g0083 a0058c0035t0002g0157 a0057c0036t0007g0083 a0058c0035t0002g0157	2	178	0.0112	6	c.690 others(20): Show c.6900-12_6900-7dupATATAT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48309033	G G	GCACACA GCACACA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02132.hp2 HG02145.hp2 others(9): Show HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02258.hp1 HG02622.hp2 HG02886.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp1 NA18971.hp2 NA18979.hp2 NA18992.hp2	a0001 a0004 a0007 others(5): Show a0001 a0004 a0007 a0028 a0029 a0032 a0063 a0087	a0001c0001 a0004c0009 a0007c0011 others(5): Show a0001c0001 a0004c0009 a0007c0011 a0028c0015 a0029c0014 a0032c0114 a0063c0071 a0087c0039	a0001c0001t0001 a0001c0001t0004 a0004c0009t0001 others(8): Show a0001c0001t0001 a0001c0001t0004 a0004c0009t0001 a0007c0011t0003 a0007c0011t0007 a0028c0015t0004 a0029c0014t0005 a0029c0014t0010 a0032c0114t0004 a0063c0071t0005 a0087c0039t0001	a0001c0001t0001g0064 a0001c0001t0004g0164 a0004c0009t0001g0116 others(9): Show a0001c0001t0001g0064 a0001c0001t0004g0164 a0004c0009t0001g0116 a0007c0011t0003g0051 a0007c0011t0007g0165 a0028c0015t0004g0173 a0028c0015t0004g0176 a0029c0014t0005g0119 a0029c0014t0010g0174 a0032c0114t0004g0082 a0063c0071t0005g0105 a0087c0039t0001g0003	12	178	0.0674	6	c.932 others(23): Show c.9322-887_9322-882dupCACACA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	23/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48368687	G G	GTATATA GTATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19043.hp2 HG02965.hp2 NA19043.hp2	a0015 a0082 a0015 a0082	a0015c0076 a0082c0088 a0015c0076 a0082c0088	a0015c0076t0001 a0082c0088t0005 a0015c0076t0001 a0082c0088t0005	a0015c0076t0001g0021 a0082c0088t0005g0152 a0015c0076t0001g0021 a0082c0088t0005g0152	2	178	0.0112	6	c.108 others(25): Show c.10803+802_10803+807dupTATATA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	32/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48401744	A A	AACACAC AACACAC	intron_variant intron_variant	MODIFIER	HG02897.hp2 NA18906.hp1 NA20300.hp2 HG02897.hp2 NA18906.hp1 NA20300.hp2	a0039 a0040 a0062 a0039 a0040 a0062	a0039c0110 a0040c0111 a0062c0075 a0039c0110 a0040c0111 a0062c0075	a0039c0110t0007 a0040c0111t0006 a0062c0075t0005 a0039c0110t0007 a0040c0111t0006 a0062c0075t0005	a0039c0110t0007g0126 a0040c0111t0006g0031 a0062c0075t0005g0023 a0039c0110t0007g0126 a0040c0111t0006g0031 a0062c0075t0005g0023	3	178	0.0169	6	c.118 others(27): Show c.11874-1912_11874-1907dupACACAC	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	38/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48411050	T T	TCTTTCC TCTTTCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00741.hp1 HG00408.hp2 HG00741.hp1	a0002 a0003 a0002 a0003	a0002c0022 a0003c0003 a0002c0022 a0003c0003	a0002c0022t0002 a0003c0003t0004 a0002c0022t0002 a0003c0003t0004	a0002c0022t0002g0124 a0003c0003t0004g0036 a0002c0022t0002g0124 a0003c0003t0004g0036	2	178	0.0112	6	c.122 others(25): Show c.12228+373_12228+374insCTTTCC	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/61			chr7	TogoVar
ABCA13_chr7_48166458_48652497	48425722	T T	TGTCTTA TGTCTTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02895.hp1 HG02897.hp1 others(1): Show HG02572.hp1 HG02895.hp1 HG02897.hp1 HG03654.hp1	a0012 a0024 a0069 a0012 a0024 a0069	a0012c0016 a0024c0027 a0069c0066 a0012c0016 a0024c0027 a0069c0066	a0012c0016t0001 a0024c0027t0001 a0024c0027t0006 others(1): Show a0012c0016t0001 a0024c0027t0001 a0024c0027t0006 a0069c0066t0001	a0012c0016t0001g0087 a0024c0027t0001g0161 a0024c0027t0006g0162 others(1): Show a0012c0016t0001g0087 a0024c0027t0001g0161 a0024c0027t0006g0162 a0069c0066t0001g0143	4	178	0.0225	6	c.124 others(27): Show c.12460-2044_12460-2043insGTCTTA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	41/61			chr7	TogoVar
ABCA13_chr7_48166458_48652497	48431342	A A	AAACAAC AAACAAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01167.hp2 HG01192.hp1 others(14): Show HG00741.hp2 HG01167.hp2 HG01192.hp1 HG01243.hp2 HG01433.hp1 HG02071.hp1 HG02809.hp2 HG02895.hp2 HG03471.hp1 HG03486.hp2 NA18956.hp2 NA18971.hp2 NA18979.hp2 NA18986.hp2 NA19091.hp1 NA20129.hp1 NA20905.hp2	a0004 a0006 a0007 others(11): Show a0004 a0006 a0007 a0008 a0011 a0015 a0019 a0020 a0021 a0022 a0049 a0060 a0075 a0086	a0004c0009 a0006c0023 a0007c0011 others(11): Show a0004c0009 a0006c0023 a0007c0011 a0008c0013 a0011c0046 a0015c0025 a0019c0030 a0020c0109 a0021c0028 a0022c0020 a0049c0055 a0060c0070 a0075c0081 a0086c0059	a0004c0009t0001 a0006c0023t0003 a0007c0011t0003 others(11): Show a0004c0009t0001 a0006c0023t0003 a0007c0011t0003 a0008c0013t0005 a0011c0046t0002 a0015c0025t0003 a0019c0030t0003 a0020c0109t0001 a0021c0028t0003 a0022c0020t0005 a0049c0055t0003 a0060c0070t0003 a0075c0081t0001 a0086c0059t0003	a0004c0009t0001g0116 a0006c0023t0003g0171 a0007c0011t0003g0051 others(14): Show a0004c0009t0001g0116 a0006c0023t0003g0171 a0007c0011t0003g0051 a0007c0011t0003g0130 a0008c0013t0005g0045 a0011c0046t0002g0089 a0015c0025t0003g0024 a0015c0025t0003g0025 a0019c0030t0003g0068 a0020c0109t0001g0120 a0021c0028t0003g0005 a0021c0028t0003g0011 a0022c0020t0005g0123 a0049c0055t0003g0125 a0060c0070t0003g0014 a0075c0081t0001g0148 a0086c0059t0003g0172	17	178	0.0955	6	c.125 others(27): Show c.12565+3513_12565+3518dupCAACAA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	42/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48478293	T T	TTATATA TTATATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00735.hp2 HG01123.hp2 others(20): Show HG00544.hp1 HG00735.hp2 HG01123.hp2 HG02109.hp1 HG02109.hp2 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG04204.hp2 NA18944.hp1 NA18953.hp2 NA18977.hp1 NA18986.hp1 NA18994.hp2 NA19007.hp1 NA19011.hp2 NA19043.hp2 NA19074.hp1 NA19083.hp2 NA20752.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0012 a0015 a0017 a0018 a0020 a0025 a0026 a0087	a0001c0001 a0001c0010 a0002c0065 others(14): Show a0001c0001 a0001c0010 a0002c0065 a0003c0004 a0004c0079 a0005c0024 a0008c0013 a0009c0012 a0012c0016 a0015c0076 a0017c0096 a0017c0097 a0018c0029 a0020c0034 a0025c0089 a0026c0026 a0087c0039	a0001c0001t0001 a0001c0001t0002 a0001c0010t0001 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0010t0001 a0002c0065t0006 a0003c0004t0001 a0004c0079t0006 a0005c0024t0001 a0005c0024t0003 a0008c0013t0002 a0009c0012t0002 a0012c0016t0001 a0015c0076t0001 a0017c0096t0001 a0017c0097t0001 a0018c0029t0001 a0020c0034t0003 a0025c0089t0012 a0026c0026t0001 a0087c0039t0001	a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0063 others(20): Show a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0081 a0001c0001t0002g0065 a0001c0010t0001g0066 a0002c0065t0006g0128 a0003c0004t0001g0033 a0004c0079t0006g0147 a0005c0024t0001g0018 a0005c0024t0003g0107 a0008c0013t0002g0088 a0009c0012t0002g0072 a0012c0016t0001g0087 a0012c0016t0001g0108 a0015c0076t0001g0021 a0017c0096t0001g0049 a0017c0097t0001g0084 a0018c0029t0001g0134 a0020c0034t0003g0117 a0025c0089t0012g0154 a0026c0026t0001g0053 a0087c0039t0001g0003	23	178	0.1292	6	c.129 others(27): Show c.12976-2730_12976-2725dupTATATA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	45/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48554822	T T	TTTATTA TTTATTA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp1 HG02717.hp1 others(9): Show HG02055.hp1 HG02572.hp1 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03540.hp1 NA19030.hp1	a0006 a0007 a0013 others(6): Show a0006 a0007 a0013 a0014 a0024 a0040 a0055 a0065 a0069	a0006c0063 a0007c0102 a0013c0006 others(6): Show a0006c0063 a0007c0102 a0013c0006 a0014c0047 a0024c0027 a0040c0111 a0055c0049 a0065c0091 a0069c0066	a0006c0063t0001 a0007c0102t0001 a0013c0006t0001 others(7): Show a0006c0063t0001 a0007c0102t0001 a0013c0006t0001 a0014c0047t0001 a0024c0027t0001 a0024c0027t0006 a0040c0111t0006 a0055c0049t0001 a0065c0091t0001 a0069c0066t0001	a0006c0063t0001g0010 a0007c0102t0001g0020 a0013c0006t0001g0002 others(9): Show a0006c0063t0001g0010 a0007c0102t0001g0020 a0013c0006t0001g0002 a0013c0006t0001g0016 a0013c0006t0001g0017 a0014c0047t0001g0155 a0024c0027t0001g0161 a0024c0027t0006g0162 a0040c0111t0006g0031 a0055c0049t0001g0086 a0065c0091t0001g0109 a0069c0066t0001g0143	12	178	0.0674	6	c.143 others(29): Show c.14355-25381_14355-25376dupATTATT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	55/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48624059	A A	AGTGTGT AGTGTGT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03453.hp2 HG03486.hp1 HG02723.hp2 HG03453.hp2 HG03486.hp1	a0047 a0058 a0081 a0047 a0058 a0081	a0047c0040 a0058c0035 a0081c0086 a0047c0040 a0058c0035 a0081c0086	a0047c0040t0001 a0058c0035t0002 a0081c0086t0009 a0047c0040t0001 a0058c0035t0002 a0081c0086t0009	a0047c0040t0001g0009 a0058c0035t0002g0157 a0081c0086t0009g0160 a0047c0040t0001g0009 a0058c0035t0002g0157 a0081c0086t0009g0160	3	178	0.0169	6	c.148 others(27): Show c.14837+8718_14837+8723dupTGTGTG	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	59/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA1_chr9_104776006_104933155	104799394	T T	TCACACA TCACACA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01169.hp2 HG01515.hp1 others(20): Show HG00642.hp2 HG01169.hp2 HG01515.hp1 HG02132.hp1 HG02451.hp2 HG02717.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03195.hp2 HG03225.hp1 HG06807.hp2 NA18962.hp1 NA18984.hp2 NA18985.hp2 NA18998.hp2 NA19001.hp1 NA19010.hp2 NA19083.hp2 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0010 a0012 a0014 a0028	a0001c0001 a0002c0024 a0002c0032 others(11): Show a0001c0001 a0002c0024 a0002c0032 a0003c0002 a0003c0009 a0003c0038 a0005c0014 a0005c0026 a0005c0052 a0006c0004 a0010c0030 a0012c0105 a0014c0023 a0028c0095	a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 others(14): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 a0001c0001t0049 a0002c0024t0008 a0002c0032t0001 a0003c0002t0003 a0003c0009t0046 a0003c0038t0005 a0005c0014t0005 a0005c0026t0024 a0005c0052t0001 a0006c0004t0002 a0010c0030t0022 a0012c0105t0024 a0014c0023t0007 a0028c0095t0002	a0001c0001t0001g0088 a0001c0001t0001g0102 a0001c0001t0001g0195 others(20): Show a0001c0001t0001g0088 a0001c0001t0001g0102 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0006g0225 a0001c0001t0012g0039 a0001c0001t0012g0144 a0001c0001t0049g0034 a0002c0024t0008g0003 a0002c0024t0008g0008 a0002c0024t0008g0109 a0002c0032t0001g0025 a0003c0002t0003g0127 a0003c0009t0046g0219 a0003c0038t0005g0307 a0005c0014t0005g0245 a0005c0026t0024g0157 a0005c0052t0001g0281 a0006c0004t0002g0132 a0010c0030t0022g0191 a0012c0105t0024g0217 a0014c0023t0007g0115 a0028c0095t0002g0114	23	318	0.0723	6	c.494 others(23): Show c.4943+419_4943+424dupTGTGTG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	36/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104801116	T T	TAAAAAA TAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01952.hp2 HG02257.hp2 others(5): Show HG01884.hp2 HG01952.hp2 HG02257.hp2 HG02559.hp2 HG02922.hp1 HG02970.hp1 HG03486.hp2 NA19240.hp1	a0002 a0004 a0005 others(1): Show a0002 a0004 a0005 a0012	a0002c0017 a0002c0074 a0004c0107 others(3): Show a0002c0017 a0002c0074 a0004c0107 a0005c0051 a0005c0082 a0012c0093	a0002c0017t0002 a0002c0017t0026 a0002c0074t0027 others(4): Show a0002c0017t0002 a0002c0017t0026 a0002c0074t0027 a0004c0107t0002 a0005c0051t0019 a0005c0082t0002 a0012c0093t0001	a0002c0017t0002g0271 a0002c0017t0026g0163 a0002c0017t0026g0276 others(5): Show a0002c0017t0002g0271 a0002c0017t0026g0163 a0002c0017t0026g0276 a0002c0074t0027g0290 a0004c0107t0002g0236 a0005c0051t0019g0164 a0005c0082t0002g0282 a0012c0093t0001g0108	8	318	0.0252	6	c.469 others(23): Show c.4699-538_4699-533dupTTTTTT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	34/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104807843	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp2 HG02809.hp1 others(4): Show HG01081.hp2 HG02055.hp2 HG02809.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 NA18906.hp1	a0004 a0005 a0008 others(2): Show a0004 a0005 a0008 a0012 a0019	a0004c0113 a0005c0036 a0005c0052 others(4): Show a0004c0113 a0005c0036 a0005c0052 a0008c0006 a0008c0048 a0012c0041 a0019c0086	a0004c0113t0002 a0005c0036t0001 a0005c0052t0001 others(4): Show a0004c0113t0002 a0005c0036t0001 a0005c0052t0001 a0008c0006t0003 a0008c0048t0030 a0012c0041t0002 a0019c0086t0003	a0004c0113t0002g0159 a0005c0036t0001g0091 a0005c0052t0001g0281 others(4): Show a0004c0113t0002g0159 a0005c0036t0001g0091 a0005c0052t0001g0281 a0008c0006t0003g0187 a0008c0048t0030g0022 a0012c0041t0002g0230 a0019c0086t0003g0100	7	318	0.0220	6	c.427 others(25): Show c.4275-1414_4275-1413insGTGTGT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	30/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104810141	C C	CATATAT CATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02300.hp1 HG02723.hp1 others(2): Show HG02056.hp2 HG02300.hp1 HG02723.hp1 HG03927.hp1 NA18522.hp2	a0002 a0003 a0014 others(2): Show a0002 a0003 a0014 a0033 a0034	a0002c0015 a0003c0076 a0014c0053 others(2): Show a0002c0015 a0003c0076 a0014c0053 a0033c0101 a0034c0103	a0002c0015t0031 a0003c0076t0002 a0014c0053t0002 others(2): Show a0002c0015t0031 a0003c0076t0002 a0014c0053t0002 a0033c0101t0001 a0034c0103t0007	a0002c0015t0031g0084 a0003c0076t0002g0130 a0014c0053t0002g0146 others(2): Show a0002c0015t0031g0084 a0003c0076t0002g0130 a0014c0053t0002g0146 a0033c0101t0001g0308 a0034c0103t0007g0240	5	318	0.0157	6	c.417 others(23): Show c.4176-583_4176-578dupATATAT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	29/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104829943	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp1 HG03579.hp2 others(1): Show HG02622.hp2 HG02809.hp1 HG03579.hp2 NA21309.hp2	a0004 a0027 a0004 a0027	a0004c0112 a0004c0113 a0004c0114 others(1): Show a0004c0112 a0004c0113 a0004c0114 a0027c0062	a0004c0112t0005 a0004c0113t0002 a0004c0114t0005 others(1): Show a0004c0112t0005 a0004c0113t0002 a0004c0114t0005 a0027c0062t0001	a0004c0112t0005g0098 a0004c0113t0002g0159 a0004c0114t0005g0304 others(1): Show a0004c0112t0005g0098 a0004c0113t0002g0159 a0004c0114t0005g0304 a0027c0062t0001g0310	4	318	0.0126	6	c.189 others(23): Show c.1893-811_1893-806dupGTGTGT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	14/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104862049	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03225.hp2 HG03540.hp1 others(1): Show HG02886.hp1 HG03225.hp2 HG03540.hp1 NA19043.hp1	a0002 a0003 a0011 a0002 a0003 a0011	a0002c0015 a0002c0037 a0003c0077 others(1): Show a0002c0015 a0002c0037 a0003c0077 a0011c0010	a0002c0015t0002 a0002c0037t0001 a0003c0077t0005 others(1): Show a0002c0015t0002 a0002c0037t0001 a0003c0077t0005 a0011c0010t0005	a0002c0015t0002g0315 a0002c0037t0001g0275 a0003c0077t0005g0312 others(1): Show a0002c0015t0002g0315 a0002c0037t0001g0275 a0003c0077t0005g0312 a0011c0010t0005g0287	4	318	0.0126	6	c.422 others(21): Show c.422-255_422-250dupGTGTGT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104888058	G G	GGTGTGT GGTGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp1 others(57): Show HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01346.hp1 HG01975.hp2 HG01978.hp2 HG02055.hp1 HG02056.hp1 HG02132.hp1 HG02647.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG04199.hp2 NA18941.hp1 NA18942.hp1 NA18953.hp2 NA18955.hp2 NA18962.hp1 NA18964.hp1 NA18967.hp1 NA18970.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18991.hp2 NA18998.hp1 NA19002.hp2 NA19007.hp2 NA19009.hp2 NA19068.hp1 NA19080.hp2 NA19083.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0014 a0016 a0018 a0024 a0031 a0033 a0036	a0001c0001 a0001c0005 a0001c0035 others(28): Show a0001c0001 a0001c0005 a0001c0035 a0001c0092 a0002c0011 a0002c0037 a0003c0002 a0003c0009 a0004c0008 a0004c0087 a0005c0014 a0005c0016 a0005c0026 a0005c0039 a0006c0004 a0006c0012 a0007c0003 a0008c0006 a0008c0048 a0009c0021 a0009c0027 a0009c0028 a0010c0007 a0010c0030 a0014c0054 a0016c0019 a0018c0080 a0024c0073 a0031c0067 a0033c0101 a0036c0094	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(49): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0005t0010 a0001c0035t0009 a0001c0092t0012 a0002c0011t0012 a0002c0037t0011 a0003c0002t0002 a0003c0002t0010 a0003c0002t0014 a0003c0002t0028 a0003c0009t0006 a0003c0009t0046 a0003c0009t0051 a0004c0008t0003 a0004c0008t0006 a0004c0008t0028 a0004c0087t0009 a0005c0014t0006 a0005c0014t0011 a0005c0016t0001 a0005c0016t0011 a0005c0026t0009 a0005c0039t0017 a0006c0004t0006 a0006c0004t0010 a0006c0004t0011 a0006c0012t0010 a0007c0003t0006 a0007c0003t0009 a0007c0003t0011 a0008c0006t0006 a0008c0006t0012 a0008c0006t0047 a0008c0048t0030 a0009c0021t0001 a0009c0027t0006 a0009c0028t0009 a0009c0028t0048 a0010c0007t0010 a0010c0030t0001 a0014c0054t0010 a0016c0019t0006 a0018c0080t0004 a0024c0073t0019 a0031c0067t0006 a0033c0101t0001 a0036c0094t0009	a0001c0001t0001g0088 a0001c0001t0003g0089 a0001c0001t0004g0194 others(57): Show a0001c0001t0001g0088 a0001c0001t0003g0089 a0001c0001t0004g0194 a0001c0001t0006g0214 a0001c0001t0006g0225 a0001c0001t0006g0239 a0001c0001t0011g0085 a0001c0001t0012g0039 a0001c0001t0012g0144 a0001c0005t0010g0043 a0001c0035t0009g0071 a0001c0092t0012g0220 a0002c0011t0012g0134 a0002c0037t0011g0116 a0003c0002t0002g0184 a0003c0002t0010g0270 a0003c0002t0014g0066 a0003c0002t0028g0261 a0003c0009t0006g0186 a0003c0009t0046g0219 a0003c0009t0051g0145 a0004c0008t0003g0289 a0004c0008t0006g0202 a0004c0008t0028g0199 a0004c0087t0009g0118 a0005c0014t0006g0052 a0005c0014t0011g0222 a0005c0016t0001g0009 a0005c0016t0001g0010 a0005c0016t0001g0049 a0005c0016t0011g0075 a0005c0026t0009g0076 a0005c0039t0017g0018 a0005c0039t0017g0019 a0006c0004t0006g0249 a0006c0004t0010g0252 a0006c0004t0011g0269 a0006c0012t0010g0198 a0007c0003t0006g0051 a0007c0003t0009g0156 a0007c0003t0011g0072 a0008c0006t0006g0057 a0008c0006t0012g0081 a0008c0006t0047g0056 a0008c0048t0030g0022 a0009c0021t0001g0174 a0009c0027t0006g0224 a0009c0027t0006g0267 a0009c0028t0009g0092 a0009c0028t0009g0093 a0009c0028t0048g0241 a0010c0007t0010g0139 a0010c0030t0001g0053 a0014c0054t0010g0251 a0016c0019t0006g0250 a0018c0080t0004g0107 a0024c0073t0019g0231 a0031c0067t0006g0223 a0033c0101t0001g0308 a0036c0094t0009g0079	60	318	0.1887	6	c.160 others(23): Show c.160+1038_160+1043dupACACAC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	3/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104896711	C C	CTTTTTT CTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01993.hp1 HG02572.hp2 others(5): Show HG01255.hp2 HG01993.hp1 HG02572.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG03130.hp1 NA18906.hp1	a0002 a0003 a0005 others(3): Show a0002 a0003 a0005 a0008 a0012 a0021	a0002c0015 a0002c0025 a0003c0038 others(4): Show a0002c0015 a0002c0025 a0003c0038 a0005c0036 a0008c0006 a0012c0102 a0021c0060	a0002c0015t0013 a0002c0025t0015 a0003c0038t0005 others(4): Show a0002c0015t0013 a0002c0025t0015 a0003c0038t0005 a0005c0036t0001 a0008c0006t0003 a0012c0102t0007 a0021c0060t0001	a0002c0015t0013g0305 a0002c0015t0013g0306 a0002c0025t0015g0283 others(5): Show a0002c0015t0013g0305 a0002c0015t0013g0306 a0002c0025t0015g0283 a0003c0038t0005g0307 a0005c0036t0001g0273 a0008c0006t0003g0187 a0012c0102t0007g0188 a0021c0060t0001g0078	8	318	0.0252	6	c.66+ others(21): Show c.66+6897_66+6902dupAAAAAA	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	2/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104909654	A A	ACACACG ACACACG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG02738.hp2 HG01168.hp1 HG01169.hp2 HG02738.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0001c0001t0003 a0004c0008t0003 a0001c0001t0001 a0001c0001t0003 a0004c0008t0003	a0001c0001t0001g0088 a0001c0001t0003g0089 a0004c0008t0003g0289 a0001c0001t0001g0088 a0001c0001t0003g0089 a0004c0008t0003g0289	3	318	0.0094	6	c.-92 others(23): Show c.-92-5884_-92-5883insCGTGTG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	1/49			chr9	TogoVar
ABCA3_chr16_2270881_2345728	2289961	T T	TCACACA TCACACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00544.hp2 others(28): Show HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00642.hp1 HG01123.hp1 HG01192.hp2 HG01496.hp2 HG01928.hp2 HG02015.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02886.hp1 HG03492.hp1 HG03831.hp1 HG04115.hp1 HG04228.hp1 NA18612.hp1 NA18942.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18978.hp2 NA19064.hp1 NA19088.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0020 a0010c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0003t0002 a0001c0020t0001 a0010c0027t0003	a0001c0001t0001g0034 a0001c0001t0001g0074 a0001c0001t0001g0076 others(28): Show a0001c0001t0001g0034 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0127 a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0001g0161 a0001c0001t0001g0167 a0001c0001t0001g0177 a0001c0001t0001g0185 a0001c0001t0001g0235 a0001c0001t0002g0211 a0001c0001t0003g0009 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0033 a0001c0001t0005g0036 a0001c0002t0001g0083 a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0001g0114 a0001c0002t0003g0017 a0001c0003t0002g0204 a0001c0020t0001g0075 a0010c0027t0003g0018	31	252	0.1230	6	c.251 others(23): Show c.2514-347_2514-342dupTGTGTG	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	19/32			chr16	TogoVar
ABCA3_chr16_2270881_2345728	2315203	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01433.hp2 HG01496.hp1 others(4): Show HG00544.hp2 HG01433.hp2 HG01496.hp1 HG02615.hp2 HG02809.hp2 NA18950.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0004c0015	a0001c0001t0001 a0001c0003t0002 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0003t0002 a0001c0004t0001 a0004c0015t0001	a0001c0001t0001g0143 a0001c0001t0001g0185 a0001c0003t0002g0209 others(4): Show a0001c0001t0001g0143 a0001c0001t0001g0185 a0001c0003t0002g0209 a0001c0004t0001g0057 a0001c0004t0001g0106 a0001c0004t0001g0119 a0004c0015t0001g0186	7	252	0.0278	6	c.111 others(25): Show c.1111+2074_1111+2079dupGTGTGT	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	10/32			chr16	TogoVar
ABCA3_chr16_2270881_2345728	2316490	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02602.hp2 HG02615.hp2 others(3): Show HG01109.hp2 HG02602.hp2 HG02615.hp2 HG04115.hp1 HG04184.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0076 a0001c0001t0001g0099 a0001c0001t0001g0143 others(3): Show a0001c0001t0001g0076 a0001c0001t0001g0099 a0001c0001t0001g0143 a0001c0001t0001g0161 a0001c0001t0001g0241 a0001c0004t0001g0040	6	252	0.0238	6	c.111 others(23): Show c.1111+787_1111+792dupTTTTTT	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	10/32			chr16	TogoVar
ABCA4_chr1_93987834_94126148	94028930	A A	AAAAAAC AAAAAAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp1 HG03139.hp2 others(4): Show HG02559.hp1 HG02572.hp1 HG03139.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp2 HG06807.hp1	a0001 a0003 a0009 others(4): Show a0001 a0003 a0009 a0021 a0023 a0032 a0042	a0001c0107 a0003c0068 a0009c0018 others(4): Show a0001c0107 a0003c0068 a0009c0018 a0021c0104 a0023c0036 a0032c0060 a0042c0092	a0001c0107t0001 a0003c0068t0001 a0009c0018t0001 others(4): Show a0001c0107t0001 a0003c0068t0001 a0009c0018t0001 a0021c0104t0001 a0023c0036t0003 a0032c0060t0001 a0042c0092t0004	a0001c0107t0001g0009 a0003c0068t0001g0108 a0009c0018t0001g0007 others(4): Show a0001c0107t0001g0009 a0003c0068t0001g0108 a0009c0018t0001g0007 a0021c0104t0001g0129 a0023c0036t0003g0068 a0032c0060t0001g0011 a0042c0092t0004g0006	7	306	0.0229	6	c.453 others(23): Show c.4539+514_4539+515insGTTTTT	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	30/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94046444	G G	GGAGTAA GGAGTAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(205): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02293.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(37): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0015 a0016 a0018 a0019 a0020 a0021 a0025 a0028 a0029 a0030 a0031 a0032 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0046 a0047 a0049 a0050 a0051	a0001c0001 a0001c0003 a0001c0004 others(67): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0013 a0001c0055 a0001c0080 a0001c0081 a0001c0085 a0002c0002 a0002c0010 a0002c0028 a0002c0094 a0002c0095 a0002c0098 a0003c0008 a0003c0020 a0003c0033 a0003c0065 a0003c0067 a0003c0072 a0004c0044 a0004c0046 a0005c0040 a0005c0041 a0005c0043 a0005c0045 a0006c0053 a0007c0027 a0007c0034 a0007c0097 a0008c0014 a0008c0024 a0009c0018 a0009c0079 a0010c0023 a0011c0021 a0011c0073 a0012c0016 a0013c0047 a0013c0048 a0015c0022 a0016c0019 a0018c0025 a0019c0090 a0020c0030 a0021c0104 a0025c0101 a0028c0074 a0029c0056 a0030c0070 a0031c0059 a0032c0060 a0034c0083 a0035c0063 a0036c0071 a0037c0058 a0038c0077 a0039c0086 a0040c0087 a0041c0088 a0042c0092 a0043c0099 a0046c0091 a0047c0103 a0049c0106 a0050c0109 a0051c0110	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(69): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0013t0001 a0001c0055t0005 a0001c0080t0001 a0001c0081t0002 a0001c0085t0002 a0002c0002t0001 a0002c0010t0001 a0002c0028t0001 a0002c0094t0001 a0002c0095t0001 a0002c0098t0001 a0003c0008t0002 a0003c0020t0001 a0003c0033t0001 a0003c0065t0002 a0003c0067t0001 a0003c0072t0001 a0004c0044t0002 a0004c0046t0001 a0005c0040t0001 a0005c0041t0001 a0005c0043t0001 a0005c0045t0001 a0006c0053t0001 a0007c0027t0002 a0007c0034t0002 a0007c0097t0002 a0008c0014t0001 a0008c0024t0001 a0009c0018t0001 a0009c0079t0001 a0010c0023t0001 a0011c0021t0001 a0011c0073t0001 a0012c0016t0001 a0013c0047t0001 a0013c0048t0001 a0015c0022t0001 a0016c0019t0001 a0018c0025t0001 a0019c0090t0003 a0020c0030t0001 a0021c0104t0001 a0025c0101t0001 a0028c0074t0002 a0029c0056t0003 a0030c0070t0001 a0031c0059t0001 a0032c0060t0001 a0034c0083t0001 a0035c0063t0001 a0036c0071t0003 a0037c0058t0001 a0038c0077t0002 a0039c0086t0001 a0040c0087t0001 a0041c0088t0001 a0042c0092t0004 a0043c0099t0001 a0046c0091t0001 a0047c0103t0001 a0049c0106t0001 a0050c0109t0001 a0051c0110t0001	a0001c0001t0001g0003 a0001c0001t0001g0027 a0001c0001t0001g0053 others(202): Show a0001c0001t0001g0003 a0001c0001t0001g0027 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0280 a0001c0001t0001g0284 a0001c0001t0001g0290 a0001c0001t0002g0054 a0001c0001t0002g0112 a0001c0003t0001g0021 a0001c0003t0001g0034 a0001c0003t0001g0040 a0001c0003t0001g0072 a0001c0003t0001g0085 a0001c0003t0001g0096 a0001c0003t0001g0107 a0001c0003t0001g0191 a0001c0003t0001g0229 a0001c0003t0001g0234 a0001c0003t0001g0248 a0001c0003t0001g0263 a0001c0003t0001g0277 a0001c0003t0001g0279 a0001c0003t0001g0281 a0001c0003t0001g0283 a0001c0004t0001g0036 a0001c0004t0001g0091 a0001c0004t0001g0193 a0001c0004t0001g0195 a0001c0004t0001g0217 a0001c0004t0001g0222 a0001c0004t0001g0223 a0001c0004t0001g0228 a0001c0004t0001g0249 a0001c0004t0002g0235 a0001c0005t0001g0157 a0001c0005t0001g0158 a0001c0005t0001g0175 a0001c0005t0001g0178 a0001c0005t0001g0231 a0001c0005t0001g0282 a0001c0006t0001g0154 a0001c0007t0001g0037 a0001c0007t0001g0089 a0001c0007t0001g0150 a0001c0007t0001g0156 a0001c0007t0001g0292 a0001c0013t0001g0171 a0001c0013t0001g0197 a0001c0055t0005g0302 a0001c0080t0001g0018 a0001c0081t0002g0153 a0001c0085t0002g0278 a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0001g0020 a0002c0002t0001g0028 a0002c0002t0001g0038 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0055 a0002c0002t0001g0059 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0078 a0002c0002t0001g0080 a0002c0002t0001g0093 a0002c0002t0001g0098 a0002c0002t0001g0102 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0165 a0002c0002t0001g0180 a0002c0002t0001g0211 a0002c0002t0001g0221 a0002c0010t0001g0058 a0002c0010t0001g0101 a0002c0010t0001g0121 a0002c0010t0001g0176 a0002c0028t0001g0031 a0002c0094t0001g0079 a0002c0095t0001g0163 a0002c0098t0001g0276 a0003c0008t0002g0065 a0003c0008t0002g0146 a0003c0008t0002g0246 a0003c0020t0001g0119 a0003c0020t0001g0291 a0003c0033t0001g0186 a0003c0065t0002g0268 a0003c0067t0001g0128 a0003c0072t0001g0049 a0004c0044t0002g0190 a0004c0046t0001g0104 a0005c0040t0001g0125 a0005c0041t0001g0025 a0005c0043t0001g0194 a0005c0045t0001g0203 a0006c0053t0001g0296 a0007c0027t0002g0022 a0007c0027t0002g0042 a0007c0034t0002g0131 a0007c0097t0002g0100 a0008c0014t0001g0045 a0008c0014t0001g0084 a0008c0014t0001g0161 a0008c0024t0001g0285 a0008c0024t0001g0287 a0009c0018t0001g0007 a0009c0079t0001g0133 a0010c0023t0001g0170 a0010c0023t0001g0212 a0011c0021t0001g0166 a0011c0021t0001g0244 a0011c0073t0001g0269 a0012c0016t0001g0023 a0012c0016t0001g0152 a0013c0047t0001g0077 a0013c0048t0001g0024 a0015c0022t0001g0267 a0016c0019t0001g0109 a0016c0019t0001g0164 a0018c0025t0001g0002 a0019c0090t0003g0047 a0020c0030t0001g0251 a0020c0030t0001g0261 a0021c0104t0001g0129 a0025c0101t0001g0014 a0028c0074t0002g0243 a0029c0056t0003g0140 a0030c0070t0001g0298 a0031c0059t0001g0066 a0032c0060t0001g0011 a0034c0083t0001g0138 a0035c0063t0001g0033 a0036c0071t0003g0048 a0037c0058t0001g0088 a0038c0077t0002g0177 a0039c0086t0001g0135 a0040c0087t0001g0192 a0041c0088t0001g0016 a0042c0092t0004g0006 a0043c0099t0001g0254 a0046c0091t0001g0266 a0047c0103t0001g0050 a0049c0106t0001g0205 a0050c0109t0001g0262 a0051c0110t0001g0301	208	306	0.6797	6	c.291 others(23): Show c.2918+474_2918+475insTTACTC	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	19/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94046455	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(54): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00544.hp2 HG00733.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01243.hp1 HG01258.hp2 HG01261.hp2 HG01517.hp2 HG02004.hp1 HG02074.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02647.hp1 HG02965.hp1 HG03017.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp2 HG04199.hp1 HG04204.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp2 NA18985.hp2 NA18986.hp2 NA18989.hp2 NA18991.hp2 NA18999.hp1 NA19000.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp1 NA19055.hp2 NA19056.hp1 NA19063.hp1 NA19066.hp2 NA19081.hp1 NA19081.hp2 NA19088.hp1 NA19090.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0008 a0009 a0010 a0015 a0016 a0019 a0034 a0040 a0043 a0046 a0049	a0001c0001 a0001c0003 a0001c0004 others(20): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0013 a0002c0002 a0002c0010 a0002c0094 a0002c0098 a0003c0067 a0004c0046 a0008c0014 a0009c0079 a0010c0023 a0015c0022 a0016c0019 a0019c0090 a0034c0083 a0040c0087 a0043c0099 a0046c0091 a0049c0106	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(20): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0013t0001 a0002c0002t0001 a0002c0010t0001 a0002c0094t0001 a0002c0098t0001 a0003c0067t0001 a0004c0046t0001 a0008c0014t0001 a0009c0079t0001 a0010c0023t0001 a0015c0022t0001 a0016c0019t0001 a0019c0090t0003 a0034c0083t0001 a0040c0087t0001 a0043c0099t0001 a0046c0091t0001 a0049c0106t0001	a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0067 others(54): Show a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0105 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0003t0001g0021 a0001c0003t0001g0034 a0001c0003t0001g0085 a0001c0003t0001g0107 a0001c0003t0001g0229 a0001c0003t0001g0277 a0001c0003t0001g0281 a0001c0004t0001g0195 a0001c0004t0001g0217 a0001c0004t0001g0222 a0001c0004t0001g0228 a0001c0005t0001g0157 a0001c0005t0001g0158 a0001c0007t0001g0150 a0001c0007t0001g0156 a0001c0013t0001g0171 a0002c0002t0001g0041 a0002c0002t0001g0046 a0002c0002t0001g0071 a0002c0010t0001g0101 a0002c0010t0001g0121 a0002c0010t0001g0176 a0002c0094t0001g0079 a0002c0098t0001g0276 a0003c0067t0001g0128 a0004c0046t0001g0104 a0008c0014t0001g0161 a0009c0079t0001g0133 a0010c0023t0001g0170 a0010c0023t0001g0212 a0015c0022t0001g0267 a0016c0019t0001g0109 a0019c0090t0003g0047 a0034c0083t0001g0138 a0040c0087t0001g0192 a0043c0099t0001g0254 a0046c0091t0001g0266 a0049c0106t0001g0205	57	306	0.1863	6	c.291 others(23): Show c.2918+458_2918+463dupTTTTTT	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	19/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94116968	C C	CTTTCTT CTTTCTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18985.hp2 NA19063.hp2 HG01109.hp2 NA18985.hp2 NA19063.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0029 a0004c0044 a0001c0001 a0002c0029 a0004c0044	a0001c0001t0001 a0002c0029t0001 a0004c0044t0002 a0001c0001t0001 a0002c0029t0001 a0004c0044t0002	a0001c0001t0001g0189 a0002c0029t0001g0237 a0004c0044t0002g0190 a0001c0001t0001g0189 a0002c0029t0001g0237 a0004c0044t0002g0190	3	306	0.0098	6	c.67- others(21): Show c.67-3903_67-3902insAAGAAA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	1/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94122525	T T	TTGATGA TTGATGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02040.hp2 HG02148.hp1 others(6): Show HG00639.hp2 HG02040.hp2 HG02148.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02886.hp2 HG02896.hp2 HG04228.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0014	a0001c0001 a0002c0002 a0004c0011 others(4): Show a0001c0001 a0002c0002 a0004c0011 a0004c0039 a0004c0046 a0014c0050 a0014c0051	a0001c0001t0001 a0002c0002t0001 a0004c0011t0002 others(4): Show a0001c0001t0001 a0002c0002t0001 a0004c0011t0002 a0004c0039t0001 a0004c0046t0001 a0014c0050t0001 a0014c0051t0002	a0001c0001t0001g0075 a0001c0001t0001g0139 a0002c0002t0001g0020 others(6): Show a0001c0001t0001g0075 a0001c0001t0001g0139 a0002c0002t0001g0020 a0004c0011t0002g0126 a0004c0011t0002g0127 a0004c0039t0001g0118 a0004c0046t0001g0104 a0014c0050t0001g0012 a0014c0051t0002g0013	9	306	0.0294	6	c.-14 others(17): Show c.-1481_-1480insTCATCA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding		1378		chr1	TogoVar
ABCA5_chr17_69239311_69332133	69263697	C C	CTTTTTT CTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01070.hp2 HG02027.hp1 others(18): Show HG00323.hp1 HG01070.hp2 HG02027.hp1 HG02083.hp1 HG02257.hp1 HG02717.hp1 HG02976.hp2 NA18906.hp2 NA18947.hp1 NA18948.hp2 NA18959.hp2 NA18967.hp2 NA18973.hp2 NA18982.hp2 NA18989.hp2 NA18994.hp2 NA19003.hp1 NA19003.hp2 NA19012.hp2 NA19056.hp2 NA19078.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0010	a0001c0002 a0002c0001 a0008c0012 others(1): Show a0001c0002 a0002c0001 a0008c0012 a0010c0015	a0001c0002t0001 a0001c0002t0012 a0001c0002t0013 others(4): Show a0001c0002t0001 a0001c0002t0012 a0001c0002t0013 a0002c0001t0002 a0002c0001t0032 a0008c0012t0023 a0010c0015t0001	a0001c0002t0001g0045 a0001c0002t0001g0075 a0001c0002t0001g0076 others(18): Show a0001c0002t0001g0045 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0116 a0001c0002t0001g0119 a0001c0002t0001g0121 a0001c0002t0001g0125 a0001c0002t0001g0140 a0001c0002t0001g0150 a0001c0002t0001g0155 a0001c0002t0001g0215 a0001c0002t0012g0010 a0001c0002t0012g0011 a0001c0002t0012g0012 a0001c0002t0013g0052 a0001c0002t0013g0074 a0002c0001t0002g0267 a0002c0001t0002g0271 a0002c0001t0032g0347 a0008c0012t0023g0278 a0010c0015t0001g0072	21	350	0.0600	6	c.331 others(25): Show c.3315+1032_3315+1037dupAAAAAA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	24/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69274839	C C	CTTTTTT CTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00609.hp2 others(42): Show HG00408.hp1 HG00558.hp2 HG00609.hp2 HG00738.hp1 HG01106.hp2 HG01261.hp1 HG01361.hp2 HG01516.hp1 HG02004.hp1 HG02074.hp1 HG02155.hp1 HG02165.hp1 HG02895.hp1 HG03017.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp2 NA18945.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18957.hp1 NA18962.hp1 NA18969.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18993.hp1 NA18994.hp1 NA18999.hp2 NA19001.hp1 NA19054.hp2 NA19063.hp1 NA19064.hp1 NA19072.hp2 NA19074.hp2 NA19076.hp2 NA19077.hp2 NA19086.hp2 NA19089.hp1	a0001 a0011 a0001 a0011	a0001c0002 a0001c0006 a0001c0008 others(2): Show a0001c0002 a0001c0006 a0001c0008 a0001c0024 a0011c0018	a0001c0002t0001 a0001c0006t0001 a0001c0006t0007 others(3): Show a0001c0002t0001 a0001c0006t0001 a0001c0006t0007 a0001c0008t0001 a0001c0024t0001 a0011c0018t0001	a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0062 others(42): Show a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0102 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0149 a0001c0002t0001g0161 a0001c0006t0001g0109 a0001c0006t0007g0054 a0001c0008t0001g0078 a0001c0008t0001g0080 a0001c0024t0001g0145 a0011c0018t0001g0148	45	350	0.1286	6	c.259 others(23): Show c.2595-717_2595-712dupAAAAAA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	19/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69293164	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(113): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01074.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG02004.hp1 HG02027.hp1 HG02074.hp1 HG02083.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18959.hp2 NA18962.hp1 NA18967.hp2 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18989.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19076.hp2 NA19077.hp2 NA19078.hp1 NA19081.hp1 NA19085.hp2 NA19086.hp2 NA19089.hp1 NA20129.hp2 NA20752.hp1	a0001 a0004 a0010 others(1): Show a0001 a0004 a0010 a0011	a0001c0002 a0001c0006 a0001c0008 others(6): Show a0001c0002 a0001c0006 a0001c0008 a0001c0013 a0001c0017 a0001c0024 a0004c0005 a0010c0015 a0011c0018	a0001c0002t0001 a0001c0002t0013 a0001c0002t0020 others(11): Show a0001c0002t0001 a0001c0002t0013 a0001c0002t0020 a0001c0006t0001 a0001c0006t0007 a0001c0006t0018 a0001c0008t0001 a0001c0008t0019 a0001c0013t0002 a0001c0017t0001 a0001c0024t0001 a0004c0005t0029 a0010c0015t0001 a0011c0018t0001	a0001c0002t0001g0002 a0001c0002t0001g0045 a0001c0002t0001g0046 others(112): Show a0001c0002t0001g0002 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0215 a0001c0002t0013g0052 a0001c0002t0013g0074 a0001c0002t0020g0123 a0001c0006t0001g0105 a0001c0006t0001g0109 a0001c0006t0001g0110 a0001c0006t0001g0111 a0001c0006t0007g0054 a0001c0006t0007g0106 a0001c0006t0007g0107 a0001c0006t0007g0108 a0001c0006t0018g0092 a0001c0008t0001g0049 a0001c0008t0001g0050 a0001c0008t0001g0051 a0001c0008t0001g0053 a0001c0008t0001g0078 a0001c0008t0001g0080 a0001c0008t0019g0082 a0001c0013t0002g0056 a0001c0017t0001g0159 a0001c0024t0001g0145 a0004c0005t0029g0207 a0010c0015t0001g0072 a0011c0018t0001g0148	116	350	0.3314	6	c.149 others(25): Show c.1495+1485_1495+1490dupGTGTGT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	11/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69293833	G G	GGTGTGT GGTGTGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01346.hp1 HG02723.hp2 others(7): Show HG00642.hp1 HG01346.hp1 HG02723.hp2 HG02922.hp1 HG02922.hp2 HG03225.hp2 HG03453.hp1 NA18983.hp1 NA19030.hp2 NA19240.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0002 a0001c0004 a0003c0003 others(1): Show a0001c0002 a0001c0004 a0003c0003 a0006c0009	a0001c0002t0001 a0001c0004t0003 a0001c0004t0026 others(3): Show a0001c0002t0001 a0001c0004t0003 a0001c0004t0026 a0003c0003t0003 a0003c0003t0015 a0006c0009t0003	a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0004t0003g0166 others(7): Show a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0004t0003g0166 a0001c0004t0026g0165 a0003c0003t0003g0028 a0003c0003t0003g0037 a0003c0003t0003g0193 a0003c0003t0015g0153 a0003c0003t0015g0154 a0006c0009t0003g0219	10	350	0.0286	6	c.149 others(23): Show c.1495+816_1495+821dupACACAC	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	11/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69299471	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp2 others(105): Show HG00099.hp1 HG00323.hp1 HG00408.hp2 HG00558.hp1 HG00642.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01261.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp2 HG02148.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02572.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG03017.hp2 HG03098.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp2 NA18612.hp1 NA18906.hp2 NA18944.hp2 NA18947.hp2 NA18949.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp2 NA18967.hp1 NA18969.hp1 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19001.hp2 NA19003.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19072.hp1 NA19076.hp1 NA19078.hp2 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(7): Show a0001 a0002 a0005 a0008 a0009 a0012 a0013 a0014 a0015 a0016	a0001c0002 a0002c0001 a0002c0016 others(8): Show a0001c0002 a0002c0001 a0002c0016 a0005c0007 a0008c0012 a0009c0025 a0012c0020 a0013c0019 a0014c0021 a0015c0023 a0016c0014	a0001c0002t0001 a0001c0002t0012 a0002c0001t0002 others(18): Show a0001c0002t0001 a0001c0002t0012 a0002c0001t0002 a0002c0001t0004 a0002c0001t0008 a0002c0001t0009 a0002c0001t0011 a0002c0001t0022 a0002c0001t0024 a0002c0001t0031 a0002c0001t0032 a0002c0016t0004 a0005c0007t0006 a0008c0012t0002 a0008c0012t0023 a0009c0025t0002 a0012c0020t0004 a0013c0019t0002 a0014c0021t0002 a0015c0023t0002 a0016c0014t0002	a0001c0002t0001g0142 a0001c0002t0001g0144 a0001c0002t0012g0010 others(104): Show a0001c0002t0001g0142 a0001c0002t0001g0144 a0001c0002t0012g0010 a0001c0002t0012g0011 a0002c0001t0002g0013 a0002c0001t0002g0014 a0002c0001t0002g0213 a0002c0001t0002g0214 a0002c0001t0002g0216 a0002c0001t0002g0217 a0002c0001t0002g0218 a0002c0001t0002g0226 a0002c0001t0002g0233 a0002c0001t0002g0234 a0002c0001t0002g0240 a0002c0001t0002g0241 a0002c0001t0002g0242 a0002c0001t0002g0243 a0002c0001t0002g0244 a0002c0001t0002g0245 a0002c0001t0002g0246 a0002c0001t0002g0247 a0002c0001t0002g0250 a0002c0001t0002g0253 a0002c0001t0002g0254 a0002c0001t0002g0256 a0002c0001t0002g0259 a0002c0001t0002g0261 a0002c0001t0002g0262 a0002c0001t0002g0263 a0002c0001t0002g0264 a0002c0001t0002g0265 a0002c0001t0002g0266 a0002c0001t0002g0267 a0002c0001t0002g0268 a0002c0001t0002g0269 a0002c0001t0002g0270 a0002c0001t0002g0271 a0002c0001t0002g0272 a0002c0001t0002g0273 a0002c0001t0002g0274 a0002c0001t0002g0275 a0002c0001t0002g0276 a0002c0001t0002g0280 a0002c0001t0002g0281 a0002c0001t0002g0283 a0002c0001t0002g0289 a0002c0001t0002g0291 a0002c0001t0002g0292 a0002c0001t0002g0293 a0002c0001t0002g0294 a0002c0001t0002g0299 a0002c0001t0002g0300 a0002c0001t0002g0301 a0002c0001t0002g0303 a0002c0001t0002g0304 a0002c0001t0002g0307 a0002c0001t0002g0312 a0002c0001t0002g0318 a0002c0001t0002g0319 a0002c0001t0004g0003 a0002c0001t0004g0169 a0002c0001t0004g0170 a0002c0001t0004g0171 a0002c0001t0004g0172 a0002c0001t0004g0174 a0002c0001t0004g0175 a0002c0001t0004g0176 a0002c0001t0004g0177 a0002c0001t0004g0179 a0002c0001t0004g0182 a0002c0001t0004g0183 a0002c0001t0004g0184 a0002c0001t0004g0185 a0002c0001t0004g0186 a0002c0001t0004g0187 a0002c0001t0004g0189 a0002c0001t0004g0190 a0002c0001t0004g0316 a0002c0001t0004g0317 a0002c0001t0008g0168 a0002c0001t0009g0239 a0002c0001t0009g0260 a0002c0001t0009g0309 a0002c0001t0011g0248 a0002c0001t0011g0297 a0002c0001t0011g0298 a0002c0001t0022g0188 a0002c0001t0024g0277 a0002c0001t0031g0313 a0002c0001t0032g0347 a0002c0016t0004g0180 a0005c0007t0006g0339 a0005c0007t0006g0340 a0005c0007t0006g0341 a0005c0007t0006g0342 a0005c0007t0006g0343 a0005c0007t0006g0344 a0005c0007t0006g0345 a0008c0012t0002g0258 a0008c0012t0023g0278 a0009c0025t0002g0295 a0012c0020t0004g0181 a0013c0019t0002g0252 a0014c0021t0002g0162 a0015c0023t0002g0279 a0016c0014t0002g0257	108	350	0.3086	6	c.126 others(25): Show c.1267+1662_1267+1667dupGTGTGT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303759	T T	TAAAAAA TAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00741.hp1 others(35): Show HG00323.hp1 HG00408.hp1 HG00741.hp1 HG01261.hp2 HG02004.hp1 HG02074.hp2 HG02083.hp1 HG02155.hp1 HG02165.hp1 HG02280.hp1 HG02523.hp2 HG02698.hp1 HG02698.hp2 HG03017.hp1 HG03139.hp1 HG03195.hp1 HG04228.hp1 HG04228.hp2 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18967.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18983.hp1 NA18985.hp1 NA18993.hp1 NA19001.hp2 NA19007.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19070.hp2 NA19081.hp2 NA19089.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0002 a0001c0013 a0001c0024 others(2): Show a0001c0002 a0001c0013 a0001c0024 a0002c0001 a0011c0018	a0001c0002t0001 a0001c0002t0013 a0001c0013t0002 others(5): Show a0001c0002t0001 a0001c0002t0013 a0001c0013t0002 a0001c0024t0001 a0002c0001t0002 a0002c0001t0011 a0002c0001t0032 a0011c0018t0001	a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0061 others(35): Show a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0061 a0001c0002t0001g0064 a0001c0002t0001g0069 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0136 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0013g0052 a0001c0013t0002g0056 a0001c0024t0001g0145 a0002c0001t0002g0013 a0002c0001t0002g0014 a0002c0001t0002g0214 a0002c0001t0002g0216 a0002c0001t0002g0218 a0002c0001t0002g0242 a0002c0001t0002g0274 a0002c0001t0002g0275 a0002c0001t0011g0298 a0002c0001t0032g0347 a0011c0018t0001g0148	38	350	0.1086	6	c.931 others(21): Show c.931-859_931-854dupTTTTTT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA6_chr17_69073702_69146895	69086486	A A	AATATAT AATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01106.hp1 others(26): Show HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG02486.hp1 HG02602.hp2 HG02647.hp1 HG02717.hp1 HG02735.hp1 HG02922.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03688.hp2 HG03834.hp1 HG04204.hp2 NA18948.hp1 NA18959.hp2 NA18982.hp1 NA18987.hp2 NA18989.hp2 NA19002.hp2 NA19006.hp1 NA19030.hp2 NA19043.hp2 NA19083.hp1 NA19086.hp1 NA20129.hp1	a0002 a0004 a0005 others(2): Show a0002 a0004 a0005 a0006 a0011	a0002c0002 a0004c0004 a0005c0005 others(2): Show a0002c0002 a0004c0004 a0005c0005 a0006c0007 a0011c0014	a0002c0002t0002 a0004c0004t0002 a0005c0005t0002 others(2): Show a0002c0002t0002 a0004c0004t0002 a0005c0005t0002 a0006c0007t0001 a0011c0014t0002	a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 others(18): Show a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0164 a0002c0002t0002g0168 a0002c0002t0002g0174 a0002c0002t0002g0197 a0002c0002t0002g0201 a0002c0002t0002g0205 a0002c0002t0002g0210 a0002c0002t0002g0214 a0002c0002t0002g0225 a0002c0002t0002g0226 a0004c0004t0002g0020 a0005c0005t0002g0133 a0006c0007t0001g0008 a0006c0007t0001g0021 a0006c0007t0001g0022 a0006c0007t0001g0166 a0006c0007t0001g0167 a0011c0014t0002g0253	29	326	0.0890	6	c.393 others(23): Show c.3937+126_3937+131dupATATAT	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	30/38			chr17	TogoVar
ABCA6_chr17_69073702_69146895	69142854	G G	GTGTGTA GTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02630.hp2 HG02886.hp1 others(2): Show HG02055.hp2 HG02630.hp2 HG02886.hp1 HG03453.hp1 NA20300.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0269 a0003c0003t0001g0276 a0003c0003t0001g0277 others(2): Show a0003c0003t0001g0269 a0003c0003t0001g0276 a0003c0003t0001g0277 a0003c0003t0001g0278 a0003c0003t0001g0279	5	326	0.0153	6	c.-11 others(17): Show c.-1156_-1155insTACACA	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding		960		chr17	TogoVar
ABCA6_chr17_69073702_69146895	69146410	A A	AATATAT AATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01106.hp1 others(6): Show HG01069.hp1 HG01071.hp2 HG01106.hp1 HG02647.hp1 HG02717.hp1 HG02922.hp1 HG03471.hp2 NA19043.hp2 NA20129.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0008 a0006c0007t0001g0021 a0006c0007t0001g0022 others(2): Show a0006c0007t0001g0008 a0006c0007t0001g0021 a0006c0007t0001g0022 a0006c0007t0001g0166 a0006c0007t0001g0167	9	326	0.0276	6	c.-47 others(17): Show c.-4712_-4711insATATAT	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding		4516		chr17	TogoVar
ABCA7_chr19_1035107_1070572	1050782	A A	AAATAAT AAATAAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02071.hp2 HG02723.hp1 others(2): Show HG01071.hp1 HG02071.hp2 HG02723.hp1 HG02723.hp2 NA20805.hp2	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0011	a0001c0001 a0002c0003 a0010c0010 others(1): Show a0001c0001 a0002c0003 a0010c0010 a0011c0008	a0001c0001t0003 a0002c0003t0001 a0010c0010t0001 others(1): Show a0001c0001t0003 a0002c0003t0001 a0010c0010t0001 a0011c0008t0002	a0001c0001t0003g0015 a0001c0001t0003g0017 a0002c0003t0001g0009 others(2): Show a0001c0001t0003g0015 a0001c0001t0003g0017 a0002c0003t0001g0009 a0010c0010t0001g0013 a0011c0008t0002g0014	5	30	0.1667	6	c.255 others(23): Show c.2553-106_2553-101dupTAATAA	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCA8_chr17_68862289_68960392	68887911	T T	TATATCC TATATCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG04184.hp2 HG04199.hp2 others(1): Show HG02258.hp2 HG04184.hp2 HG04199.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0023 a0001c0001 a0001c0004 a0001c0023	a0001c0001t0001 a0001c0004t0001 a0001c0023t0001 a0001c0001t0001 a0001c0004t0001 a0001c0023t0001	a0001c0001t0001g0169 a0001c0001t0001g0228 a0001c0004t0001g0190 others(1): Show a0001c0001t0001g0169 a0001c0001t0001g0228 a0001c0004t0001g0190 a0001c0023t0001g0269	4	274	0.0146	6	c.314 others(23): Show c.3145-406_3145-405insGGATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	24/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68911734	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00639.hp2 others(23): Show HG00280.hp2 HG00438.hp2 HG00639.hp2 HG01258.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG02109.hp2 HG02145.hp1 HG02809.hp1 HG02895.hp1 HG02896.hp2 HG03239.hp1 HG03540.hp1 HG03579.hp1 NA18522.hp2 NA18906.hp1 NA18964.hp2 NA18971.hp1 NA18991.hp1 NA19010.hp1 NA19030.hp2 NA19065.hp1 NA19081.hp1 NA19091.hp2 NA19240.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0013 a0019 a0022 a0023 a0025	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0017 a0001c0023 a0002c0006 a0003c0007 a0013c0056 a0019c0041 a0022c0020 a0023c0047 a0025c0045	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(10): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0017t0001 a0001c0023t0001 a0002c0006t0001 a0003c0007t0001 a0013c0056t0001 a0019c0041t0001 a0022c0020t0001 a0023c0047t0001 a0025c0045t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 others(23): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0041 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0268 a0001c0002t0001g0004 a0001c0002t0001g0034 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0004t0001g0187 a0001c0005t0001g0142 a0001c0005t0001g0150 a0001c0005t0001g0151 a0001c0017t0001g0024 a0001c0023t0001g0269 a0002c0006t0001g0161 a0003c0007t0001g0266 a0013c0056t0001g0135 a0019c0041t0001g0009 a0022c0020t0001g0145 a0023c0047t0001g0010 a0025c0045t0001g0273	26	274	0.0949	6	c.213 others(25): Show c.2139-3861_2139-3856dupGTGTGT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	17/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68918930	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01106.hp1 HG01516.hp2 others(21): Show HG01071.hp2 HG01106.hp1 HG01516.hp2 HG01517.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02165.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG03195.hp2 HG03209.hp1 NA18522.hp1 NA18939.hp1 NA18951.hp2 NA18975.hp1 NA18979.hp2 NA18986.hp2 NA19000.hp2 NA19030.hp1 NA19043.hp2 NA20129.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0024 a0025 a0029	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0006 a0003c0007 a0003c0033 a0004c0008 a0005c0009 a0024c0021 a0025c0045 a0029c0028	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(10): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0002c0006t0001 a0003c0007t0001 a0003c0033t0001 a0004c0008t0001 a0005c0009t0001 a0024c0021t0001 a0025c0045t0001 a0029c0028t0001	a0001c0001t0001g0155 a0001c0001t0001g0215 a0001c0001t0001g0216 others(20): Show a0001c0001t0001g0155 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0002t0001g0120 a0001c0003t0001g0055 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0060 a0001c0004t0001g0195 a0001c0004t0001g0210 a0001c0005t0001g0137 a0001c0005t0001g0141 a0002c0006t0001g0001 a0002c0006t0001g0166 a0003c0007t0001g0059 a0003c0007t0001g0263 a0003c0033t0001g0056 a0004c0008t0001g0104 a0004c0008t0001g0125 a0005c0009t0001g0106 a0024c0021t0001g0139 a0025c0045t0001g0273 a0029c0028t0001g0113	24	274	0.0876	6	c.178 others(23): Show c.1788+365_1788+370dupTTTTTT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	14/39			chr17	TogoVar

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