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
BRIP1_chr17_61674139_61868528	61759005	C C	CATAAATA others(9): Show CATAAATAAATAAATAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp2 HG01070.hp1 others(7): Show HG00639.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01934.hp2 NA18950.hp1 NA18965.hp2 NA18981.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0028 a0002c0002t0003 a0002c0002t0007	a0001c0001t0001g0048 a0001c0001t0002g0094 a0001c0001t0006g0233 others(7): Show a0001c0001t0001g0048 a0001c0001t0002g0094 a0001c0001t0006g0233 a0001c0001t0006g0234 a0001c0001t0028g0232 a0002c0002t0003g0203 a0002c0002t0003g0204 a0002c0002t0007g0202 a0002c0002t0007g0224 a0002c0002t0007g0227	10	266	0.0376	16	c.209 others(37): Show c.2098-14430_2098-14415dupTTATTTATTTATTTAT	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	14/19			chr17	TogoVar
BRIP1_chr17_61674139_61868528	61846244	A A	AAAAGAGA others(9): Show AAAAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0180 a0001c0001t0004g0180	1	266	0.0038	16	c.627 others(31): Show c.627+841_627+856dupCTCTCTCTCTCTCTTT	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	6/19			chr17	TogoVar
BRK1_chr3_10110675_10132190	10123732	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	356	0.0028	16	c.119 others(33): Show c.119-1888_119-1873dupTTTTTTTTTTTTTTTT	BRK1	ENSG00000254999.4	transcript	ENST00000530758.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
BRK1_chr3_10110675_10132190	10131702	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG03239.hp1 HG01975.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0027 a0001c0001t0004g0098 a0001c0001t0004g0027 a0001c0001t0004g0098	2	356	0.0056	16	c.54 others(27): Show c.5407_*5408insAAAAAAAAAAAAAAAA	BRK1	ENSG00000254999.4	transcript	ENST00000530758.2	protein_coding		4513		chr3	TogoVar
BRME1_chr19_13877348_13911117	13891135	T T	TTTTATTA others(9): Show TTTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0081 a0002c0002t0002g0081	1	322	0.0031	16	c.394 others(31): Show c.394-674_394-673insTAATAATAATAATAAA	BRME1	ENSG00000132016.12	transcript	ENST00000586783.6	protein_coding	5/8			chr19	TogoVar
BRMS1L_chr14_35821338_35876963	35852990	G G	GTATCTAT others(9): Show GTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(16): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00733.hp2 HG01123.hp1 HG01261.hp2 HG01884.hp1 HG02257.hp1 HG02818.hp1 HG02886.hp2 HG03540.hp1 HG03831.hp1 NA18959.hp1 NA18995.hp2 NA19083.hp1 NA19086.hp2 NA19091.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0123 others(14): Show a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0193 a0001c0001t0008g0149	19	374	0.0508	16	c.442 others(33): Show c.442-9588_442-9573dupCTATCTATCTATCTAT	BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
BRMS1L_chr14_35821338_35876963	35852991	T T	TATCTATC others(9): Show TATCTATCTATCTATCA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03540.hp2 HG02145.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0110 a0001c0001t0001g0059 a0001c0001t0001g0110	2	374	0.0054	16	c.442 others(33): Show c.442-9584_442-9583insAATCTATCTATCTATC	BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
BRMS1L_chr14_35821338_35876963	35873189	G G	GTATATAT others(9): Show GTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00639.hp2 HG02809.hp2 others(3): Show HG00544.hp1 HG00639.hp2 HG02809.hp2 HG03654.hp1 NA18906.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0226 others(3): Show a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0226 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0266	6	374	0.0160	16	c.27 others(27): Show c.2712_*2713insTATATATATATATATA	BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding		1227		chr14	TogoVar
BRMS1L_chr14_35821338_35876963	35873189	G G	GTGTATAT others(9): Show GTGTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG02630.hp1 HG01255.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0262 a0001c0001t0003g0008 a0001c0001t0001g0262 a0001c0001t0003g0008	2	374	0.0054	16	c.27 others(27): Show c.2712_*2713insTGTATATATATATATA	BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding		1227		chr14	TogoVar
BRMS1L_chr14_35821338_35876963	35873189	G G	GTGTGTAT others(9): Show GTGTGTATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	374	0.0027	16	c.27 others(27): Show c.2712_*2713insTGTGTATATATATATA	BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding		1227		chr14	TogoVar
BRSK1_chr19_55278997_55317562	55308774	C C	CCGTGGGT others(9): Show CCGTGGGTGGCGGGGGG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03704.hp2 HG04199.hp1 others(2): Show HG03490.hp2 HG03704.hp2 HG04199.hp1 HG04228.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009	a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0006g0280 others(2): Show a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0006g0280 a0001c0001t0008g0024 a0001c0001t0009g0024	5	338	0.0148	16	c.217 others(32): Show c.2179+94_2179+109dupGCGTGGGTGGCGGGGG	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
BRSK2_chr11_1384934_1467689	1454158	G G	GGGGGGGG others(9): Show GGGGGGGGCTCACCTGT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0347 a0002c0002t0012g0347	1	360	0.0028	16	c.154 others(33): Show c.1545-321_1545-320insGCTCACCTGTGGGGGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	15/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1454173	T T	TGGGGGGC others(9): Show TGGGGGGCTCACCTGTG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03831.hp2 HG02602.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0038 a0002c0002t0040 a0002c0002t0038 a0002c0002t0040	a0002c0002t0038g0297 a0002c0002t0040g0298 a0002c0002t0038g0297 a0002c0002t0040g0298	2	360	0.0056	16	c.154 others(33): Show c.1545-310_1545-295dupGGGGGCTCACCTGTGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	15/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRWD1_chr21_39180482_39318632	39185295	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01169.hp2 HG01099.hp2 HG01169.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0010 a0003c0004t0010	a0003c0004t0010g0088 a0003c0004t0010g0095 a0003c0004t0010g0088 a0003c0004t0010g0095	2	338	0.0059	16	c.10 others(29): Show c.10948_*10963dupTTTTTTTTTTTTTTTT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding		186		chr21	TogoVar
BRWD1_chr21_39180482_39318632	39207451	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01256.hp2 HG01257.hp1 others(20): Show HG01167.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01516.hp2 HG02056.hp2 HG02074.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02818.hp1 HG02818.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03516.hp2 HG03688.hp1 HG03942.hp1 NA19006.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0009 a0012	a0001c0001 a0001c0008 a0003c0004 others(4): Show a0001c0001 a0001c0008 a0003c0004 a0003c0005 a0004c0003 a0009c0022 a0012c0012	a0001c0001t0003 a0001c0001t0004 a0001c0008t0003 others(7): Show a0001c0001t0003 a0001c0001t0004 a0001c0008t0003 a0003c0004t0005 a0003c0004t0019 a0003c0005t0007 a0003c0005t0031 a0004c0003t0025 a0009c0022t0004 a0012c0012t0059	a0001c0001t0003g0296 a0001c0001t0003g0308 a0001c0001t0003g0311 others(20): Show a0001c0001t0003g0296 a0001c0001t0003g0308 a0001c0001t0003g0311 a0001c0001t0003g0324 a0001c0001t0004g0262 a0001c0001t0004g0264 a0001c0001t0004g0278 a0001c0008t0003g0300 a0003c0004t0005g0098 a0003c0004t0005g0119 a0003c0004t0005g0120 a0003c0004t0005g0123 a0003c0004t0005g0127 a0003c0004t0019g0077 a0003c0005t0007g0109 a0003c0005t0007g0110 a0003c0005t0007g0111 a0003c0005t0007g0112 a0003c0005t0007g0116 a0003c0005t0031g0114 a0004c0003t0025g0002 a0009c0022t0004g0256 a0012c0012t0059g0161	23	338	0.0681	16	c.419 others(35): Show c.4198-1193_4198-1178dupGTGTGTGTGTGTGTGT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	36/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39244921	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02055.hp2 HG02258.hp2 others(6): Show HG01928.hp1 HG02055.hp2 HG02258.hp2 HG02280.hp1 HG02602.hp1 HG04228.hp1 NA18522.hp2 NA19003.hp2 NA20300.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0006 a0006c0009 a0001c0001 a0004c0006 a0006c0009	a0001c0001t0003 a0001c0001t0015 a0001c0001t0046 others(2): Show a0001c0001t0003 a0001c0001t0015 a0001c0001t0046 a0004c0006t0042 a0006c0009t0012	a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0317 others(6): Show a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0317 a0001c0001t0015g0252 a0001c0001t0015g0254 a0001c0001t0015g0255 a0001c0001t0046g0171 a0004c0006t0042g0142 a0006c0009t0012g0084	9	338	0.0266	16	c.248 others(35): Show c.2481+2764_2481+2779dupATATATATATATATAT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	21/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39248641	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0229 a0002c0002t0022g0229	1	338	0.0030	16	c.235 others(33): Show c.2350-825_2350-810dupTTTTTTTTTTTTTTTT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	20/40			chr21	TogoVar
BRWD3_chrX_80664503_80814877	80700433	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0086 a0001c0001t0076 a0001c0001t0086	a0001c0001t0076g0072 a0001c0001t0086g0107 a0001c0001t0076g0072 a0001c0001t0086g0107	2	265	0.0076	16	c.283 others(33): Show c.2836-370_2836-369insATATATATATATATAT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	24/40			chrX	TogoVar
BRWD3_chrX_80664503_80814877	80730389	A A	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp2 HG01070.hp2 others(11): Show HG00639.hp1 HG00741.hp2 HG01070.hp2 HG01928.hp1 HG01981.hp2 HG02280.hp2 HG02630.hp2 HG03516.hp2 HG03540.hp2 NA18981.hp1 NA19004.hp1 NA19068.hp1 NA19081.hp1 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0010 a0001c0001t0022 a0001c0001t0030 others(10): Show a0001c0001t0010 a0001c0001t0022 a0001c0001t0030 a0001c0001t0033 a0001c0001t0038 a0001c0001t0057 a0001c0001t0073 a0001c0001t0104 a0001c0001t0112 a0001c0001t0113 a0001c0001t0126 a0001c0001t0146 a0006c0006t0109	a0001c0001t0010g0083 a0001c0001t0022g0158 a0001c0001t0022g0159 others(11): Show a0001c0001t0010g0083 a0001c0001t0022g0158 a0001c0001t0022g0159 a0001c0001t0030g0051 a0001c0001t0033g0113 a0001c0001t0038g0201 a0001c0001t0057g0015 a0001c0001t0073g0071 a0001c0001t0104g0162 a0001c0001t0112g0170 a0001c0001t0113g0171 a0001c0001t0126g0188 a0001c0001t0146g0249 a0006c0006t0109g0167	14	265	0.0528	16	c.112 others(33): Show c.1128-385_1128-370dupCTTTCTTTCTTTCTTT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	12/40			chrX	TogoVar
BRWD3_chrX_80664503_80814877	80809759	A A	AAGAGAGA others(9): Show AAGAGAGAGAGAGAGAG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00438.hp2 HG02886.hp2 HG00438.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0061 a0001c0002t0123 a0001c0001t0061 a0001c0002t0123	a0001c0001t0061g0027 a0001c0002t0123g0183 a0001c0001t0061g0027 a0001c0002t0123g0183	2	265	0.0076	16	c.-30 others(25): Show c.-304_-289dupCTCTCTCTCTCTCTCT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	1/41	289		chrX	TogoVar
BSCL2_chr11_62685275_62712424	62691979	G G	GAGGCAGA others(9): Show GAGGCAGAGCTTGCAGT	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	330	0.0030	16	c.863 others(31): Show c.863+381_863+396dupACTGCAAGCTCTGCCT	BSCL2	ENSG00000168000.16	transcript	ENST00000360796.10	protein_coding	6/10			chr11	TogoVar
BSCL2_chr11_62685275_62712424	62696278	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03491.hp1 HG03688.hp2 others(3): Show HG00280.hp1 HG03491.hp1 HG03688.hp2 NA18747.hp2 NA19009.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0209 others(3): Show a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0209 a0001c0001t0001g0217 a0001c0001t0001g0228 a0001c0001t0001g0231	6	330	0.0182	16	c.487 others(33): Show c.487-1583_487-1568dupCACACACACACACACA	BSCL2	ENSG00000168000.16	transcript	ENST00000360796.10	protein_coding	3/10			chr11	TogoVar
BSG_chr19_567596_588493	570148	T T	TTTTTTGT others(9): Show TTTTTTGTTTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	306	0.0033	16	c.-24 others(27): Show c.-2487_-2486insTTTTTGTTTTTTTTTG	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		2447		chr19	TogoVar
BSG_chr19_567596_588493	570591	A A	AGGGGCGG others(9): Show AGGGGCGGGTGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	306	0.0033	16	c.-20 others(27): Show c.-2044_-2043insGGGGCGGGTGGGGGAG	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		2004		chr19	TogoVar
BSG_chr19_567596_588493	570627	C C	CGGGTGGG others(9): Show CGGGTGGGGGAGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	306	0.0033	16	c.-20 others(27): Show c.-2008_-2007insGGGTGGGGGAGGGGAG	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1968		chr19	TogoVar
BSG_chr19_567596_588493	570627	C C	CGGGTGGG others(9): Show CGGGTGGGGGAGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(114): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02293.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18939.hp1 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18964.hp1 NA18970.hp1 NA18970.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19007.hp1 NA19011.hp1 NA19060.hp2 NA19066.hp2 NA19074.hp1 NA19080.hp1 NA19082.hp2 NA19085.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0015 a0004c0009 a0008c0017	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(16): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 a0001c0001t0020 a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0001c0003t0006 a0001c0003t0008 a0001c0003t0009 a0001c0003t0010 a0001c0006t0002 a0001c0006t0013 a0001c0008t0002 a0001c0015t0004 a0004c0009t0022 a0008c0017t0002	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0007 others(66): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0030 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0045 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0138 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0164 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0003g0014 a0001c0001t0003g0043 a0001c0001t0003g0095 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0007g0009 a0001c0001t0007g0031 a0001c0001t0007g0105 a0001c0001t0007g0112 a0001c0001t0011g0111 a0001c0001t0015g0004 a0001c0001t0020g0023 a0001c0002t0001g0001 a0001c0002t0001g0016 a0001c0002t0001g0102 a0001c0002t0001g0109 a0001c0003t0001g0058 a0001c0003t0001g0066 a0001c0003t0004g0003 a0001c0003t0004g0008 a0001c0003t0004g0017 a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0033 a0001c0003t0004g0052 a0001c0003t0004g0056 a0001c0003t0004g0057 a0001c0003t0004g0061 a0001c0003t0004g0067 a0001c0003t0004g0159 a0001c0003t0004g0160 a0001c0003t0004g0167 a0001c0003t0006g0003 a0001c0003t0006g0038 a0001c0003t0006g0062 a0001c0003t0008g0064 a0001c0003t0009g0003 a0001c0003t0010g0003 a0001c0003t0010g0053 a0001c0006t0002g0103 a0001c0006t0013g0149 a0001c0008t0002g0011 a0001c0015t0004g0065 a0004c0009t0022g0091 a0008c0017t0002g0007	117	306	0.3824	16	c.-20 others(27): Show c.-2008_-2007insGGGTGGGGGAGGGGCG	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1968		chr19	TogoVar
BSG_chr19_567596_588493	570755	G G	GGGAGGGG others(9): Show GGGAGGGGCGGAGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02723.hp2 HG03471.hp2 HG02451.hp2 HG02723.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0003 a0001c0010t0001 a0001c0001t0003 a0001c0010t0001	a0001c0001t0003g0051 a0001c0001t0003g0069 a0001c0010t0001g0070 a0001c0001t0003g0051 a0001c0001t0003g0069 a0001c0010t0001g0070	3	306	0.0098	16	c.-18 others(27): Show c.-1880_-1879insGGAGGGGCGGAGGGGT	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1840		chr19	TogoVar
BSND_chr1_54993933_55022172	54996837	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA19043.hp1 NA19054.hp2 NA18963.hp1 NA19043.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0172 a0001c0001t0204 a0001c0001t0205 a0001c0001t0172 a0001c0001t0204 a0001c0001t0205	a0001c0001t0172g0128 a0001c0001t0204g0004 a0001c0001t0205g0004 a0001c0001t0172g0128 a0001c0001t0204g0004 a0001c0001t0205g0004	3	448	0.0067	16	c.-23 others(27): Show c.-2350_-2349insTTTTTTTTTTTTTTTT	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding		2095		chr1	TogoVar
BSN_chr3_49549477_49676549	49582952	C C	CATTTATT others(9): Show CATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02622.hp2 NA18522.hp2 HG02559.hp1 HG02622.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0129 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0129 a0001c0001t0003g0155 a0001c0001t0003g0156	3	186	0.0161	16	c.224 others(35): Show c.224+28145_224+28160dupTTATTTATTTATTTAT	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49586326	C C	CTCTATCT others(9): Show CTCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03710.hp1 NA18522.hp1 others(1): Show HG02970.hp2 HG03710.hp1 NA18522.hp1 NA18973.hp1	a0002 a0023 a0002 a0023	a0002c0002 a0023c0028 a0002c0002 a0023c0028	a0002c0002t0001 a0023c0028t0003 a0002c0002t0001 a0023c0028t0003	a0002c0002t0001g0089 a0002c0002t0001g0184 a0002c0002t0001g0185 others(1): Show a0002c0002t0001g0089 a0002c0002t0001g0184 a0002c0002t0001g0185 a0023c0028t0003g0150	4	186	0.0215	16	c.224 others(35): Show c.224+31523_224+31538dupTATCTATCTATCTATC	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49613303	C C	CGAGAGAG others(9): Show CGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01168.hp1 HG01258.hp2 others(15): Show HG01167.hp2 HG01168.hp1 HG01258.hp2 HG02004.hp1 HG02004.hp2 HG02258.hp1 HG02486.hp2 HG02622.hp2 HG02683.hp1 HG02809.hp2 HG02896.hp2 HG03130.hp1 HG03139.hp1 HG03453.hp1 NA18979.hp1 NA18979.hp2 NA19003.hp2 NA19079.hp1	a0001 a0002 a0017 a0001 a0002 a0017	a0001c0001 a0001c0016 a0001c0017 others(3): Show a0001c0001 a0001c0016 a0001c0017 a0001c0027 a0002c0002 a0017c0038	a0001c0001t0002 a0001c0001t0003 a0001c0001t0026 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0026 a0001c0016t0003 a0001c0017t0002 a0001c0027t0003 a0002c0002t0001 a0017c0038t0027	a0001c0001t0002g0095 a0001c0001t0002g0115 a0001c0001t0002g0141 others(15): Show a0001c0001t0002g0095 a0001c0001t0002g0115 a0001c0001t0002g0141 a0001c0001t0002g0176 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0132 a0001c0001t0003g0138 a0001c0001t0003g0154 a0001c0001t0003g0159 a0001c0001t0026g0146 a0001c0016t0003g0164 a0001c0017t0002g0106 a0001c0027t0003g0186 a0002c0002t0001g0183 a0017c0038t0027g0003	18	186	0.0968	16	c.225 others(35): Show c.225-11641_225-11626dupGAGAGAGAGAGAGAGA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49624300	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0158 a0001c0001t0029g0158	1	186	0.0054	16	c.225 others(31): Show c.225-673_225-658dupTTTTTTTTTTTTTTTT	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSPH1_chr19_47963046_47997170	47963893	C C	CTTTCTTT others(9): Show CTTTCTTTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp2 HG02886.hp2 others(1): Show HG02723.hp1 HG02723.hp2 HG02886.hp2 HG03239.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0005 a0001c0001 a0002c0003 a0003c0005	a0001c0001t0001 a0002c0003t0001 a0003c0005t0001 a0001c0001t0001 a0002c0003t0001 a0003c0005t0001	a0001c0001t0001g0220 a0001c0001t0001g0367 a0002c0003t0001g0410 others(1): Show a0001c0001t0001g0220 a0001c0001t0001g0367 a0002c0003t0001g0410 a0003c0005t0001g0428	4	444	0.0090	16	c.43 others(27): Show c.4318_*4319insAGAAAAGAAAAAGAAA	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding		4152		chr19	TogoVar
BSPH1_chr19_47963046_47997170	47969684	G G	GGAGAGAG others(9): Show GGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00733.hp2 HG02257.hp2 others(18): Show HG00558.hp1 HG00733.hp2 HG02257.hp2 HG02258.hp2 HG02647.hp1 HG03490.hp1 NA18947.hp2 NA18956.hp1 NA18963.hp1 NA18975.hp2 NA18989.hp2 NA18994.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp2 NA19011.hp2 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0089 a0001c0001t0001g0125 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0089 a0001c0001t0001g0125 a0001c0001t0001g0145 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0183 a0001c0001t0001g0237 a0001c0001t0001g0280 a0001c0001t0001g0323 a0001c0001t0001g0384 a0001c0001t0003g0325 a0002c0002t0001g0024 a0002c0002t0001g0043 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0067	21	444	0.0473	16	c.3- others(31): Show c.3-1491_*3-1476dupTCTCTCTCTCTCTCTC	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	5/5			chr19	TogoVar
BSPH1_chr19_47963046_47997170	47969684	G G	GGGGAGAG others(9): Show GGGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	444	0.0023	16	c.3- others(31): Show c.3-1476_*3-1475insTCTCTCTCTCTCTCCC	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	5/5			chr19	TogoVar
BSPH1_chr19_47963046_47997170	47978001	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01081.hp2 HG02040.hp1 others(4): Show HG00609.hp1 HG01081.hp2 HG02040.hp1 NA18946.hp1 NA18956.hp2 NA19058.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0222 a0001c0001t0001g0290 a0001c0001t0001g0331 others(4): Show a0001c0001t0001g0222 a0001c0001t0001g0290 a0001c0001t0001g0331 a0001c0001t0001g0360 a0001c0001t0001g0404 a0001c0001t0002g0241 a0001c0001t0002g0352	7	444	0.0158	16	c.125 others(31): Show c.125-513_125-498dupATATATATATATATAT	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	3/5			chr19	TogoVar
BSPRY_chr9_113344541_113376222	113352480	G G	GACACACA others(9): Show GACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01109.hp1 HG02258.hp2 others(14): Show HG00673.hp2 HG01109.hp1 HG02258.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02698.hp1 HG02970.hp1 HG03579.hp1 HG03710.hp1 HG03834.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18990.hp1 NA19043.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0017 a0001c0006t0002 a0002c0003t0006 a0002c0003t0008 a0002c0003t0010	a0001c0001t0001g0020 a0001c0001t0004g0020 a0001c0001t0004g0203 others(14): Show a0001c0001t0001g0020 a0001c0001t0004g0020 a0001c0001t0004g0203 a0001c0001t0006g0288 a0001c0001t0006g0292 a0001c0001t0009g0020 a0001c0001t0009g0201 a0001c0001t0009g0202 a0001c0001t0009g0205 a0001c0002t0001g0194 a0001c0002t0003g0251 a0001c0002t0006g0195 a0001c0002t0017g0204 a0001c0006t0002g0200 a0002c0003t0006g0289 a0002c0003t0008g0291 a0002c0003t0010g0290	17	448	0.0380	16	c.202 others(33): Show c.202-1752_202-1737dupCACACACACACACACA	BSPRY	ENSG00000119411.11	transcript	ENST00000374183.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
BSPRY_chr9_113344541_113376222	113362174	G G	GGTGGGTG others(9): Show GGTGGGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19012.hp2 NA18944.hp1 NA19012.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0268 a0001c0007t0003g0269 a0001c0007t0003g0268 a0001c0007t0003g0269	2	448	0.0045	16	c.532 others(31): Show c.532-192_532-191insGGTGTGTGTGTGTGTG	BSPRY	ENSG00000119411.11	transcript	ENST00000374183.5	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
BST1_chr4_15698065_15737787	15698713	G G	GTATATAT others(9): Show GTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG02717.hp2 NA18945.hp1 others(4): Show HG00438.hp1 HG02717.hp2 NA18945.hp1 NA18951.hp2 NA18975.hp2 NA19080.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0025 others(1): Show a0001c0001 a0001c0004 a0001c0025 a0002c0002	a0001c0001t0001 a0001c0004t0001 a0001c0025t0008 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0025t0008 a0002c0002t0001	a0001c0001t0001g0029 a0001c0001t0001g0165 a0001c0001t0001g0166 others(4): Show a0001c0001t0001g0029 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0004t0001g0047 a0001c0025t0008g0056 a0002c0002t0001g0175 a0002c0002t0001g0178	7	442	0.0158	16	c.-44 others(27): Show c.-4432_-4431insTATATATATATATATA	BST1	ENSG00000109743.11	transcript	ENST00000265016.9	protein_coding		4351		chr4	TogoVar
BST2_chr19_17397939_17410630	17400596	A A	ACCTGCCC others(9): Show ACCTGCCCCCCCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0015 a0002c0006t0015	a0002c0006t0015g0031 a0002c0006t0015g0031	1	412	0.0024	16	c.27 others(27): Show c.2745_*2746insGGGAGGGGGGGGCAGG	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		2342		chr19	TogoVar
BST2_chr19_17397939_17410630	17410496	T T	TTATATAT others(9): Show TTATATATGTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG02615.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	2	412	0.0049	16	c.-49 others(27): Show c.-4922_-4921insTATATATACATATATA	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4867		chr19	TogoVar
BST2_chr19_17397939_17410630	17410497	C C	CATATATA others(9): Show CATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	412	0.0024	16	c.-49 others(27): Show c.-4938_-4923dupATATATATATATATAT	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4868		chr19	TogoVar
BST2_chr19_17397939_17410630	17410529	T T	TATATATA others(9): Show TATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 NA18946.hp1 NA19080.hp1 HG00621.hp2 NA18946.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	412	0.0073	16	c.-49 others(27): Show c.-4955_-4954insGTATATATATATATAT	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4900		chr19	TogoVar
BST2_chr19_17397939_17410630	17410593	C C	CATATATA others(9): Show CATATATATACACGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	412	0.0024	16	c.-50 others(27): Show c.-5019_-5018insATACGTGTATATATAT	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4964		chr19	TogoVar
BSX_chr11_122972570_122986834	122975154	T T	TACACACA others(9): Show TACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG00738.hp2 others(4): Show HG00280.hp1 HG00642.hp2 HG00738.hp2 HG01175.hp1 HG01256.hp2 HG02602.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0024 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0031	7	422	0.0166	16	c.24 others(27): Show c.2494_*2495insGTGTGTGTGTGTGTGT	BSX	ENSG00000188909.5	transcript	ENST00000343035.3	protein_coding		2415		chr11	TogoVar
BTAF1_chr10_91918770_92036437	91925516	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp1 HG01109.hp1 others(9): Show HG00140.hp2 HG01070.hp1 HG01109.hp1 HG01175.hp2 HG01192.hp1 HG02027.hp2 HG02300.hp2 HG02683.hp1 HG03239.hp2 HG04199.hp2 NA18952.hp1 NA19077.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0015 a0001c0001 a0007c0015	a0001c0001t0003 a0007c0015t0003 a0001c0001t0003 a0007c0015t0003	a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 others(9): Show a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0310 a0001c0001t0003g0311 a0007c0015t0003g0227	12	330	0.0364	16	c.14+ others(31): Show c.14+1439_14+1440insTTTTTTTTTTTTTTTT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	92032009	C C	CTTCTTTT others(9): Show CTTCTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01070.hp1 NA18971.hp1 HG00140.hp2 HG01070.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0192 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0192 a0001c0001t0003g0220 a0001c0001t0003g0221	3	330	0.0091	16	c.30 others(27): Show c.3076_*3077insTTCTTTTTTTTTTTTT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding		573		chr10	TogoVar
BTAF1_chr10_91918770_92036437	92032009	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 NA19043.hp1 NA19043.hp2 HG02818.hp1 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0079	3	330	0.0091	16	c.30 others(27): Show c.3076_*3077insTTTTTTTTTTTTTTTT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding		573		chr10	TogoVar
BTBD10_chr11_13383008_13468222	13395230	C C	CCATTCTA others(9): Show CCATTCTAACTGGTGTG	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	356	0.0028	16	c.111 others(35): Show c.1118-6105_1118-6090dupCACACCAGTTAGAATG	BTBD10	ENSG00000148925.11	transcript	ENST00000278174.10	protein_coding	8/8			chr11	TogoVar
BTBD10_chr11_13383008_13468222	13430974	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03927.hp1 HG00558.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0099 a0001c0002t0002g0278 a0001c0001t0001g0099 a0001c0002t0002g0278	2	356	0.0056	16	c.102 others(33): Show c.102-9152_102-9137dupGTGTGTGTGTGTGTGT	BTBD10	ENSG00000148925.11	transcript	ENST00000278174.10	protein_coding	2/8			chr11	TogoVar

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