Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BCAT1_chr12_24805024_24954101	24936712	A A	ATCTCTCT others(35): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0216 a0001c0001t0100g0216	1	322	0.0031	42	c.6+1 others(57): Show c.6+12214_6+12215insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGA	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	1/10			chr12	TogoVar
BCL11A_chr2_60452194_60558654	60467111	G G	GTGGTGGT others(35): Show GTGGTGGTGGTGGTGTTGGTGGTGGTGGTGGTGGTGGTGATGA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0245 a0001c0001t0006g0245	1	262	0.0038	42	c.487 others(59): Show c.487+1620_487+1621insTCATCACCACCACCACCACCACCACCAA CACCACCACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467399	G G	GTACTGGT others(35): Show GTACTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGCTAC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	262	0.0038	42	c.487 others(59): Show c.487+1332_487+1333insGTAGCATCACCACCACCACCACCATCAC CATCACCACCAGTA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467528	G G	GTACTGGT others(35): Show GTACTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGCTAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG00733.hp2 others(19): Show HG00323.hp1 HG00642.hp2 HG00733.hp2 HG01074.hp1 HG01123.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01943.hp1 HG01975.hp2 HG01981.hp1 HG02027.hp1 HG02056.hp1 HG02300.hp1 HG02738.hp1 HG03688.hp2 HG04199.hp2 NA18979.hp1 NA19007.hp1 NA19066.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0001t0059	a0001c0001t0001g0033 a0001c0001t0001g0054 a0001c0001t0001g0055 others(18): Show a0001c0001t0001g0033 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0002g0001 a0001c0001t0002g0094 a0001c0001t0002g0101 a0001c0001t0003g0181 a0001c0001t0004g0084 a0001c0001t0004g0086 a0001c0001t0004g0089 a0001c0001t0005g0229 a0001c0001t0005g0231 a0001c0001t0005g0232 a0001c0001t0008g0126 a0001c0001t0008g0129 a0001c0001t0016g0256 a0001c0001t0017g0014 a0001c0001t0022g0180 a0001c0001t0059g0210	22	262	0.0840	42	c.487 others(59): Show c.487+1203_487+1204insGTAGCATCACCACCACCACCACCATCAC CATCACCACCAGTA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467597	G G	GTGGTGGT others(35): Show GTGGTGGTAGTGATGGTGGTGGTGGTGATGGTACTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0017 a0001c0009t0001g0017	1	262	0.0038	42	c.487 others(59): Show c.487+1134_487+1135insTCACCACCAGTACCATCACCACCACCAC CATCACTACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467822	A A	ATGGTGGT others(35): Show ATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0225 a0001c0001t0005g0225	1	262	0.0038	42	c.487 others(57): Show c.487+909_487+910insCCACCACCACCATTACCACCACCATCACTA CCACCACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467834	G G	GTGATGGT others(35): Show GTGATGGTACTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0217 a0001c0001t0012g0217	1	262	0.0038	42	c.487 others(57): Show c.487+897_487+898insTCATCACCACCACCACCACCACCATCACCA CCAGTACCATCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG02273.hp1 HG01952.hp1 HG02273.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0065 a0002c0002t0002g0029 a0002c0002t0002g0065	2	458	0.0044	42	c.-43 others(53): Show c.-4377_-4376insAAAATATATATATATATATATATATATATATATA TATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(35): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	458	0.0022	42	c.-43 others(53): Show c.-4377_-4376insAAAAAAAAAAAAAAAAAAAATATATATATATATA TATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L11_chr2_111115914_111173444	111120979	T T	TGCCGCTG others(35): Show TGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0011 a0001c0001t0063g0011	1	398	0.0025	42	c.-21 others(51): Show c.-218_-217insTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC CGCCGC	BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding	1/4	2761	INFO_REALIGN_3_PRIME	chr2	TogoVar
BCO1_chr16_81233689_81296142	81235195	T T	TAAATATA others(35): Show TAAATATATATATATATATATATATATATAAATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	402	0.0025	42	c.-37 others(53): Show c.-3714_-3713insAAATATATATATATATATATATATATATAAATAT ATATATAA	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3493		chr16	TogoVar
BCO1_chr16_81233689_81296142	81235195	T T	TATATATA others(35): Show TATATATATATAAATAAATAAATATATATATATATATAAATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0156 a0001c0005t0001g0156	1	402	0.0025	42	c.-37 others(53): Show c.-3714_-3713insATATATATATAAATAAATAAATATATATATATAT ATAAATAA	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3493		chr16	TogoVar
BCO1_chr16_81233689_81296142	81235195	T T	TATATATA others(35): Show TATATATATATAAATAAATATATATATATATATATATAAATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0138 a0001c0005t0001g0138	1	402	0.0025	42	c.-37 others(53): Show c.-3714_-3713insATATATATATAAATAAATATATATATATATATAT ATAAATAA	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3493		chr16	TogoVar
BDH1_chr3_197504783_197560968	197510599	G G	GGTGTGTG others(35): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0175 a0001c0001t0175	a0001c0001t0175g0032 a0001c0001t0175g0032	1	319	0.0031	42	c.12 others(53): Show c.1254_*1295dupACACACACACACACACACACACACACACACACAC ACACACAC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1295		chr3	TogoVar
BDH1_chr3_197504783_197560968	197542521	C C	CTTTTTTT others(35): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0136 a0001c0001t0136	a0001c0001t0136g0045 a0001c0001t0136g0045	1	319	0.0031	42	c.83+ others(57): Show c.83+3839_83+3840insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	3/7			chr3	TogoVar
BDH1_chr3_197504783_197560968	197549975	T T	TTATTTTT others(35): Show TTATTTTTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0024 a0002c0005t0024	a0002c0005t0024g0049 a0002c0005t0024g0049	1	319	0.0031	42	c.-43 others(59): Show c.-43-3490_-43-3489insTATATATATATATATATATATATATATA TATATATAAAAATA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	2/7			chr3	TogoVar
BDH2_chr4_103072592_103104834	103102328	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0036 a0001c0001t0006g0036	1	382	0.0026	42	c.-25 others(53): Show c.-2567_-2566insATATATATATATATATATATATATATATATATAT ATATATAT	BDH2	ENSG00000164039.15	transcript	ENST00000296424.9	protein_coding		2495		chr4	TogoVar
BET1L_chr11_197924_212399	207359	C C	CGGCCACA others(35): Show CGGCCACAGCCGCCTCAGACGTGGCCACAGCCGCCTCAGACGT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00738.hp2 HG01099.hp1 HG01255.hp1 others(5): Show HG00738.hp2 HG01099.hp1 HG01255.hp1 HG02622.hp2 NA18969.hp1 NA18990.hp2 NA19005.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0021 a0001c0001t0022 others(1): Show a0001c0001t0010 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023	a0001c0001t0010g0012 a0001c0001t0021g0028 a0001c0001t0022g0027 others(1): Show a0001c0001t0010g0012 a0001c0001t0021g0028 a0001c0001t0022g0027 a0001c0001t0023g0029	8	402	0.0199	42	c.-39 others(49): Show c.-39_-38insACGTCTGAGGCGGCTGTGGCCACGTCTGAGGCGGCTGT GGCC	BET1L	ENSG00000177951.18	transcript	ENST00000382762.8	protein_coding	1/4	39		chr11	TogoVar
BICC1_chr10_58507872_58836435	58621956	G G	GAACAACA others(35): Show GAACAACAGAACAGAACAACAGAACAGAACAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00741.hp2 HG01106.hp1 others(30): Show HG00558.hp2 HG00741.hp2 HG01106.hp1 HG01106.hp2 HG01243.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp2 HG02027.hp1 HG02109.hp2 HG02132.hp1 HG02155.hp2 HG02257.hp1 HG02486.hp1 HG02683.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03471.hp2 HG04115.hp2 HG04204.hp1 NA18747.hp2 NA18906.hp1 NA18961.hp1 NA18965.hp2 NA18983.hp2 NA18986.hp2 NA19060.hp2 NA20129.hp2 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0002c0002 a0002c0003 others(3): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004 a0004c0005 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0029 a0001c0001t0038 a0001c0001t0040 a0001c0001t0042 a0001c0001t0046 a0001c0001t0048 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0008 a0002c0002t0010 a0002c0002t0018 a0002c0002t0020 a0002c0002t0050 a0002c0003t0009 a0003c0004t0014 a0003c0004t0025 a0003c0004t0047 a0004c0005t0004 a0008c0012t0017	a0001c0001t0001g0075 a0001c0001t0001g0108 a0001c0001t0002g0055 others(30): Show a0001c0001t0001g0075 a0001c0001t0001g0108 a0001c0001t0002g0055 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0024 a0001c0001t0012g0058 a0001c0001t0029g0032 a0001c0001t0038g0113 a0001c0001t0040g0126 a0001c0001t0042g0130 a0001c0001t0046g0090 a0001c0001t0048g0086 a0002c0002t0001g0103 a0002c0002t0003g0027 a0002c0002t0004g0020 a0002c0002t0005g0039 a0002c0002t0006g0072 a0002c0002t0006g0102 a0002c0002t0008g0035 a0002c0002t0008g0036 a0002c0002t0008g0051 a0002c0002t0010g0123 a0002c0002t0018g0124 a0002c0002t0020g0101 a0002c0002t0050g0132 a0002c0003t0009g0104 a0003c0004t0014g0066 a0003c0004t0014g0067 a0003c0004t0025g0021 a0003c0004t0047g0120 a0004c0005t0004g0025 a0008c0012t0017g0017	33	132	0.2500	42	c.237 others(59): Show c.237+1057_237+1058insCAACAGAACAGAACAACAGAACAGAACA ACAGAACAGAACAA	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICDL2_chr16_3022682_3041944	3041361	C C	CCAGGGTG others(35): Show CCAGGGTGCTTAGTTTGGTATGCCCTCCCCGCCTTTCCATCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	390	0.0026	42	c.-44 others(53): Show c.-4499_-4498insTGGATGGAAAGGCGGGGAGGGCATACCAAACTAA GCACCCTG	BICDL2	ENSG00000162069.16	transcript	ENST00000572449.6	protein_coding		4418		chr16	TogoVar
BIN1_chr2_127043032_127112154	127105467	C C	CCCTCCTC others(35): Show CCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0282 a0001c0003t0001g0282	1	344	0.0029	42	c.84+ others(57): Show c.84+1392_84+1393insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGG	BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	1/18			chr2	TogoVar
BIRC2_chr11_102342214_102383670	102364172	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	344	0.0029	42	c.112 others(59): Show c.1123+459_1123+460insTATATATATATATATATATATATATATA TATATATATACATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC6_chr2_32352023_32623878	32461147	C C	CCTCTCCT others(35): Show CCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03017.hp1 HG01891.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0189 a0001c0001t0002g0240 a0001c0001t0001g0189 a0001c0001t0002g0240	2	274	0.0073	42	c.475 others(61): Show c.4754-2044_4754-2043insTCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCTC	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32578979	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	274	0.0037	42	c.133 others(63): Show c.13355+3624_13355+3625insTATATATATATATATATATATATA TATATATATATATATATA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	66/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BLOC1S2_chr10_100268293_100291680	100284858	A A	AGGAATGG others(35): Show AGGAATGGAAAGGAGAGCATGGGTGCAAGAACATTACAGAAGT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	378	0.0027	42	c.172 others(59): Show c.172+1197_172+1238dupACTTCTGTAATGTTCTTGCACCCATGCT CTCCTTTCCATTCC	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	2/4			chr10	TogoVar
BLTP3B_chr12_100032072_100147874	100140729	A A	AAAAAAAA others(35): Show AAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0031 a0003c0002t0001g0031	1	188	0.0053	42	c.44+ others(57): Show c.44+1862_44+1863insATATATATATATATATATATATATATATAT ATATTTTTTTTT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLVRB_chr19_40442768_40470745	40460247	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	362	0.0028	42	c.80- others(57): Show c.80-1703_80-1702insATATATATATATATATATATATATATATAT ATATATATATAT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	1/4			chr19	TogoVar
BMPR1A_chr10_86751619_86932969	86824105	G G	GTGTGTGT others(35): Show GTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02148.hp1 HG03669.hp2 others(2): Show HG01261.hp2 HG02148.hp1 HG03669.hp2 NA19060.hp1 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0004 a0001c0002t0017 a0001c0002t0030 others(1): Show a0001c0002t0004 a0001c0002t0017 a0001c0002t0030 a0002c0001t0019	a0001c0002t0004g0071 a0001c0002t0004g0118 a0001c0002t0017g0090 others(2): Show a0001c0002t0004g0071 a0001c0002t0004g0118 a0001c0002t0017g0090 a0001c0002t0030g0144 a0002c0001t0019g0077	5	278	0.0180	42	c.-26 others(63): Show c.-267-14753_-267-14752insGTGTGTGTGTGTGTTTGTGTGTGT GTGTGTGTGTTTGTGTGT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(35): Show CACACACACACATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02717.hp2 HG02015.hp1 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0004 a0001c0003t0060 a0001c0002t0004 a0001c0003t0060	a0001c0002t0004g0076 a0001c0003t0060g0153 a0001c0002t0004g0076 a0001c0003t0060g0153	2	278	0.0072	42	c.75 others(53): Show c.7579_*7580insACACACACACATATATATATATATATATATATAT ATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(35): Show CACACACATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG04228.hp1 HG00673.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0017 a0001c0002t0003 a0001c0002t0017	a0001c0002t0003g0081 a0001c0002t0017g0104 a0001c0002t0003g0081 a0001c0002t0017g0104	2	278	0.0072	42	c.75 others(53): Show c.7579_*7580insACACACATATATATATATATATATATATATATAT ATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACATA others(35): Show CACACATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0062 a0001c0002t0062	a0001c0002t0062g0137 a0001c0002t0062g0137	1	278	0.0036	42	c.75 others(53): Show c.7579_*7580insACACATATATATATATATATATATATATATATAT ATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1B_chr4_94752955_95163448	95026118	C C	CTTTCTTT others(35): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0209 a0001c0001t0008g0209	1	226	0.0044	42	c.-18 others(61): Show c.-18+29986_-18+30027dupTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95116421	G G	GCGCGCAC others(35): Show GCGCGCACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03579.hp1 HG02886.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0045 a0001c0001t0015 a0001c0001t0045	a0001c0001t0015g0023 a0001c0001t0045g0102 a0001c0001t0015g0023 a0001c0001t0045g0102	2	226	0.0089	42	c.349 others(57): Show c.349+635_349+636insGCGCACACACACACACACACACACACACAC ACACACACACAC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BNC2_chr9_16404503_16875670	16861181	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02257.hp1 HG02258.hp2 others(7): Show HG01123.hp2 HG02257.hp1 HG02258.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp2 HG04184.hp1 NA18950.hp2 NA18991.hp2 NA19030.hp2	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0003c0008 a0011c0019 a0001c0001 a0003c0008 a0011c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0015 a0001c0001t0020 a0001c0001t0071 a0001c0001t0080 a0001c0001t0097 a0003c0008t0025 a0011c0019t0076	a0001c0001t0001g0053 a0001c0001t0003g0082 a0001c0001t0007g0065 others(7): Show a0001c0001t0001g0053 a0001c0001t0003g0082 a0001c0001t0007g0065 a0001c0001t0015g0052 a0001c0001t0020g0081 a0001c0001t0071g0074 a0001c0001t0080g0069 a0001c0001t0097g0080 a0003c0008t0025g0066 a0011c0019t0076g0003	10	176	0.0568	42	c.3+9 others(55): Show c.3+9464_3+9465insATATATATATATATATATATATATATATATAT ATATATATAT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6			chr9	TogoVar
BPIFC_chr22_32408845_32469446	32424574	T T	TTTCTTCT others(35): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG02622.hp1 HG01243.hp2 HG02109.hp1 HG02622.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0396 a0003c0003t0002g0018 a0003c0003t0002g0022 a0001c0001t0002g0396 a0003c0003t0002g0018 a0003c0003t0002g0022	3	422	0.0071	42	c.121 others(61): Show c.1218-5171_1218-5170insGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424669	T T	TTCTTCCT others(35): Show TTCTTCCTCTTCTTCTTCCTCCTCTTCTTCCTCCTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03139.hp2 HG02145.hp1 HG03139.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0003 a0001c0001t0001 a0003c0003t0003	a0001c0001t0001g0132 a0003c0003t0003g0014 a0001c0001t0001g0132 a0003c0003t0003g0014	2	422	0.0047	42	c.121 others(61): Show c.1218-5266_1218-5265insGGAAGAAGAGGAGGAAGAAGAGGAGG AAGAAGAAGAGGAAGA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPNT2_chr8_56952931_56998867	56956044	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02723.hp2 HG03225.hp2 others(2): Show HG02055.hp2 HG02723.hp2 HG03225.hp2 HG03453.hp1 NA19002.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0004 a0001c0001 a0001c0002 a0005c0004	a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 a0001c0002t0024 a0005c0004t0013	a0001c0001t0002g0208 a0001c0001t0006g0174 a0001c0001t0013g0204 others(2): Show a0001c0001t0002g0208 a0001c0001t0006g0174 a0001c0001t0013g0204 a0001c0002t0024g0182 a0005c0004t0013g0189	5	356	0.0140	42	c.77 others(53): Show c.7748_*7749insATATATATATATATATATATATATATATATATAT ATATATAT	BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding		1886		chr8	TogoVar
BPTF_chr17_67820503_67989378	67917131	C C	CTTTTTTT others(35): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02027.hp2 HG01975.hp2 HG02027.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0227 a0002c0002t0002g0230 a0002c0002t0002g0227 a0002c0002t0002g0230	2	274	0.0073	42	c.530 others(61): Show c.5304-1564_5304-1563insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BRINP1_chr9_119161629_119374435	119367221	G G	GATATATA others(35): Show GATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02886.hp1 NA18747.hp1 others(1): Show HG02165.hp1 HG02886.hp1 NA18747.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0087 a0001c0001t0002g0220 a0001c0002t0001g0088 others(1): Show a0001c0001t0001g0087 a0001c0001t0002g0220 a0001c0002t0001g0088 a0001c0002t0001g0089	4	236	0.0170	42	c.-51 others(59): Show c.-51+1834_-51+1835insATATATATATATATATATATATATATAT ATATATATATATAT	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	1/7			chr9	TogoVar
BRIX1_chr5_34910711_34930996	34914301	C C	CAAATCAC others(35): Show CAAATCACTTAAAATTGTGCCTCGTTTCCACATATATAAAACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	440	0.0023	42	c.-14 others(53): Show c.-1438_-1437insAAATCACTTAAAATTGTGCCTCGTTTCCACATAT ATAAAACG	BRIX1	ENSG00000113460.13	transcript	ENST00000336767.6	protein_coding		1409		chr5	TogoVar
BRWD3_chrX_80664503_80814877	80700433	G G	GATATATA others(35): Show GATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0077 a0001c0001t0080g0077	1	265	0.0038	42	c.283 others(59): Show c.2836-370_2836-369insATATATATATATATATATATATATATAT ATATATATATATAT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	24/40			chrX	TogoVar
BSG_chr19_567596_588493	570772	G G	GGGGGTGG others(35): Show GGGGGTGGGTTGGGAGGGGCGGAGGGGTGAGTGGGGGGGCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01167.hp1 HG01167.hp2 others(9): Show HG00280.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01943.hp1 HG02735.hp1 HG02976.hp2 HG04199.hp1 NA18994.hp1 NA18998.hp1 NA20129.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0008t0002	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0007g0009 others(6): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0007g0009 a0001c0001t0007g0031 a0001c0001t0007g0105 a0001c0001t0007g0112 a0001c0002t0001g0109 a0001c0008t0002g0007 a0001c0008t0002g0011	12	306	0.0392	42	c.-18 others(53): Show c.-1863_-1862insGGGGTGGGTTGGGAGGGGCGGAGGGGTGAGTGGG GGGGCGGA	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1823		chr19	TogoVar
BSG_chr19_567596_588493	570795	G G	GGGGGTGG others(35): Show GGGGGTGGGTTGGGAGGGGCGGAGGGGTGAGTGGGGGGGCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG02602.hp1 HG00738.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0131 a0001c0001t0002g0050 a0001c0001t0002g0131	2	306	0.0065	42	c.-18 others(53): Show c.-1840_-1839insGGGGTGGGTTGGGAGGGGCGGAGGGGTGAGTGGG GGGGCGGA	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1800		chr19	TogoVar
BST2_chr19_17397939_17410630	17410529	T T	TATATATA others(35): Show TATATATATATACACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA19091.hp1 NA18977.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0002 a0001c0001t0002g0004	2	412	0.0049	42	c.-49 others(53): Show c.-4955_-4954insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAT ATATATAT	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4900		chr19	TogoVar
BST2_chr19_17397939_17410630	17410529	T T	TATATATA others(35): Show TATATATATATATACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG03669.hp1 HG03669.hp2 others(6): Show HG01516.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 NA18944.hp2 NA18968.hp2 NA18993.hp2 NA18999.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0007 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0007g0012 a0001c0001t0009g0017	9	412	0.0218	42	c.-49 others(53): Show c.-4955_-4954insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATAT ATATATAT	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4900		chr19	TogoVar
BST2_chr19_17397939_17410630	17410529	T T	TATATATA others(35): Show TATATATATATATATACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG03831.hp1 HG02723.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0007 a0001c0004t0002 a0001c0001t0007 a0001c0004t0002	a0001c0001t0007g0012 a0001c0004t0002g0023 a0001c0001t0007g0012 a0001c0004t0002g0023	2	412	0.0049	42	c.-49 others(53): Show c.-4955_-4954insGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATAT ATATATAT	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4900		chr19	TogoVar
BST2_chr19_17397939_17410630	17410529	T T	TATATATA others(35): Show TATATATATATATATATACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	412	0.0024	42	c.-49 others(53): Show c.-4955_-4954insGTGTGTGTGTGTGTGTGTGTGTGTGTATATATAT ATATATAT	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4900		chr19	TogoVar
BST2_chr19_17397939_17410630	17410529	T T	TATATATA others(35): Show TATATATATATATATATATACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	412	0.0024	42	c.-49 others(53): Show c.-4955_-4954insGTGTGTGTGTGTGTGTGTGTGTGTATATATATAT ATATATAT	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4900		chr19	TogoVar
BSX_chr11_122972570_122986834	122986786	A A	ATTAATAT others(35): Show ATTAATATGCATACTTTTGAAAATAAAAGGACATGAGAGTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	422	0.0024	42	c.-51 others(53): Show c.-5116_-5115insATAACTCTCATGTCCTTTTATTTTCAAAAGTATG CATATTAA	BSX	ENSG00000188909.5	transcript	ENST00000343035.3	protein_coding		4953		chr11	TogoVar
BTAF1_chr10_91918770_92036437	91991265	A A	AATATAAA others(35): Show AATATAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0002 a0003c0014t0002	a0003c0014t0002g0255 a0003c0014t0002g0255	1	330	0.0030	42	c.285 others(59): Show c.2855-827_2855-826insTATATATATATATATATATAAATATATA TATATATATATATA	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	20/37		INFO_REALIGN_3_PRIME	chr10	TogoVar

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