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
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(24): Show ATATATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	268	0.0037	31	c.-38 others(42): Show c.-3878_-3877insTATATATATATATATTTTTTTTTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316431	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01943.hp1 HG01952.hp1 others(2): Show HG01361.hp2 HG01943.hp1 HG01952.hp1 HG03942.hp1 NA18984.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0001c0001 a0006c0012	a0001c0001t0004 a0001c0001t0006 a0006c0012t0004 a0001c0001t0004 a0001c0001t0006 a0006c0012t0004	a0001c0001t0004g0161 a0001c0001t0006g0042 a0001c0001t0006g0147 others(2): Show a0001c0001t0004g0161 a0001c0001t0006g0042 a0001c0001t0006g0147 a0001c0001t0006g0197 a0006c0012t0004g0059	5	268	0.0187	31	c.106 others(50): Show c.1065-1135_1065-1134insTATATATATATATATATATATATATA TATAT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14			chr13	TogoVar
B4GALNT3_chr12_454939_568509	511407	C C	CCTTCCAC others(24): Show CCTTCCACCTTCCACCTTCCACCTTCCACCTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0337 a0001c0001t0077g0337	1	394	0.0025	31	c.170 others(50): Show c.170-23734_170-23733insCACCTTCTTCCACCTTCCACCTTCCA CCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	511704	T T	TCCACCTT others(24): Show TCCACCTTCGACCTTCCGCCTTCCGCCTTCCG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0080 a0003c0004t0080	a0003c0004t0080g0201 a0003c0004t0080g0201	1	394	0.0025	31	c.170 others(50): Show c.170-23460_170-23459insACCTTCGACCTTCCGCCTTCCGCCTT CCGCC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	374700	G G	GGGAAGGG others(24): Show GGGAAGGGAGGGAGGAGGAAGGGAGGGGAGGA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0145 a0002c0002t0001g0145	1	184	0.0054	31	c.784 others(46): Show c.784-747_784-746insAGGAAGGGAGGGGAGGAGGAAGGGAGGGAG G	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BABAM2_chr2_27885729_28343901	28112169	C C	CCCTTCCT others(24): Show CCCTTCCTTCCTTCCTTCTCCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	158	0.0063	31	c.571 others(50): Show c.571-17099_571-17098insTCCTTCCTTCCTTCTCCCTTCCTTCC TTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112173	C C	CCCTTCCT others(24): Show CCCTTCCTTCCTTCCTTCTCCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	158	0.0063	31	c.571 others(50): Show c.571-17095_571-17094insTCCTTCCTTCCTTCTCCCTTCCTTCC TTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112177	C C	CCCTTCCT others(24): Show CCCTTCCTTCCTTCCTTCTCCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0148	1	158	0.0063	31	c.571 others(50): Show c.571-17091_571-17090insTCCTTCCTTCCTTCTCCCTTCCTTCC TTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28196321	C C	CGTCTCAA others(24): Show CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	158	0.0063	31	c.681 others(50): Show c.681-40881_681-40880insGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11			chr2	TogoVar
BACE2_chr21_41163160_41287530	41174138	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0069 a0001c0002t0003g0069	1	272	0.0037	31	c.312 others(48): Show c.312+5563_312+5564insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	1/8			chr21	TogoVar
BACH2_chr6_89921528_90301843	90103029	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0162 a0001c0001t0056g0162	1	194	0.0052	31	c.-16 others(52): Show c.-161-13921_-161-13920insAAAAAAATATATATATATATATAT ATATATA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90103029	A A	ATATATAT others(24): Show ATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0146 a0001c0002t0035g0146	1	194	0.0052	31	c.-16 others(52): Show c.-161-13921_-161-13920insAAAAAAAAATATATATATATATAT ATATATA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BAIAP2L1_chr7_98286650_98406090	98353602	T T	TTATATGT others(24): Show TTATATGTATATTTATAATATACATATATTTA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0083 a0001c0005t0012g0083	1	298	0.0034	31	c.214 others(48): Show c.214+1409_214+1439dupTAAATATATGTATATTATAAATATACAT ATA	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	3/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0201 a0001c0002t0001g0202	2	298	0.0067	31	c.128 others(48): Show c.128-1893_128-1892insATATATATATATATATATTTTTTTTTTT TTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03492.hp1 HG00558.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0157 a0001c0002t0001g0178 a0001c0002t0001g0157 a0001c0002t0001g0178	2	298	0.0067	31	c.128 others(48): Show c.128-1893_128-1892insATATATATATATATATATATTTTTTTTT TTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18942.hp2 HG02132.hp1 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0016 a0001c0002t0001 a0001c0002t0016	a0001c0002t0001g0198 a0001c0002t0016g0184 a0001c0002t0001g0198 a0001c0002t0016g0184	2	298	0.0067	31	c.128 others(48): Show c.128-1893_128-1892insATATATATATATATATATATATTTTTTT TTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0153 a0001c0002t0001g0153	1	298	0.0034	31	c.128 others(48): Show c.128-1893_128-1892insATATATATATATATATATATATATTTTT TTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2_chr17_81030151_81122434	81055569	G G	GGTTTTTT others(24): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	376	0.0027	31	c.130 others(48): Show c.130+1826_130+1827insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13			chr17	TogoVar
BAMBI_chr10_28672521_28687932	28683987	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	436	0.0023	31	c.15 others(42): Show c.1586_*1587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	BAMBI	ENSG00000095739.11	transcript	ENST00000375533.6	protein_coding		1056		chr10	TogoVar
BANK1_chr4_101785730_102079812	101947284	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	284	0.0035	31	c.120 others(52): Show c.1206+29095_1206+29096insTATATATATATATATATATATATA TATATAT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16			chr4	TogoVar
BANP_chr16_87946434_88082316	88019628	G G	GCGGGATC others(24): Show GCGGGATCTCAGCGTGCGGGGGGCGGGGCGTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00621.hp1 others(61): Show HG00140.hp2 HG00408.hp1 HG00621.hp1 HG00673.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01255.hp2 HG01358.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02273.hp2 HG02523.hp1 HG02735.hp1 HG03017.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG06807.hp1 NA18947.hp1 NA18950.hp1 NA18964.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp2 NA18989.hp1 NA18992.hp2 NA19004.hp2 NA19005.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19063.hp2 NA19077.hp1 NA19080.hp1 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0001c0014 others(2): Show a0001c0002 a0001c0006 a0001c0014 a0001c0016 a0002c0015	a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 others(4): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0006t0002 a0001c0014t0019 a0001c0016t0003 a0002c0015t0002	a0001c0002t0001g0047 a0001c0002t0002g0004 a0001c0002t0002g0006 others(59): Show a0001c0002t0001g0047 a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0044 a0001c0002t0002g0046 a0001c0002t0002g0049 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0002g0066 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0076 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0008g0003 a0001c0002t0008g0010 a0001c0002t0008g0022 a0001c0002t0008g0023 a0001c0002t0008g0025 a0001c0002t0008g0036 a0001c0002t0008g0043 a0001c0002t0008g0051 a0001c0006t0002g0001 a0001c0006t0002g0005 a0001c0006t0002g0067 a0001c0006t0002g0071 a0001c0006t0002g0072 a0001c0006t0002g0073 a0001c0006t0002g0075 a0001c0006t0002g0077 a0001c0006t0002g0078 a0001c0006t0002g0079 a0001c0006t0002g0083 a0001c0006t0002g0128 a0001c0006t0002g0280 a0001c0006t0002g0281 a0001c0006t0002g0337 a0001c0014t0019g0199 a0001c0016t0003g0068 a0002c0015t0002g0065	64	352	0.1818	31	c.895 others(48): Show c.895+1023_895+1053dupCCGGGATCTCAGCGTGCGGGGGGCGGGG CGT	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	88019651	C C	CGGGGCGT others(24): Show CGGGGCGTCCGGGATCTCAGCGTGCGGGGGAA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	352	0.0028	31	c.895 others(48): Show c.895+1013_895+1014insAAGGGGCGTCCGGGATCTCAGCGTGCGG GGG	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	88019690	C C	CCGGGATC others(24): Show CCGGGATCTCAGCGTGCGGGGGGCGGGGCGTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG00735.hp2 others(32): Show HG00438.hp2 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01257.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01884.hp2 HG01978.hp2 HG01993.hp1 HG02145.hp2 HG02300.hp1 HG02698.hp1 HG03130.hp2 HG03195.hp2 HG03710.hp2 HG04204.hp2 HG06807.hp2 NA18939.hp2 NA18949.hp1 NA18960.hp1 NA18975.hp2 NA18983.hp1 NA18989.hp2 NA19000.hp2 NA19002.hp2 NA19060.hp1 NA19088.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0011 others(1): Show a0001c0002 a0001c0004 a0001c0011 a0001c0026	a0001c0002t0008 a0001c0004t0004 a0001c0004t0012 others(3): Show a0001c0002t0008 a0001c0004t0004 a0001c0004t0012 a0001c0011t0001 a0001c0011t0005 a0001c0026t0004	a0001c0002t0008g0008 a0001c0004t0004g0060 a0001c0004t0004g0061 others(32): Show a0001c0002t0008g0008 a0001c0004t0004g0060 a0001c0004t0004g0061 a0001c0004t0004g0062 a0001c0004t0004g0125 a0001c0004t0004g0126 a0001c0004t0004g0129 a0001c0004t0004g0130 a0001c0004t0004g0131 a0001c0004t0004g0132 a0001c0004t0004g0136 a0001c0004t0004g0137 a0001c0004t0004g0138 a0001c0004t0004g0139 a0001c0004t0004g0142 a0001c0004t0004g0143 a0001c0004t0004g0144 a0001c0004t0004g0145 a0001c0004t0004g0148 a0001c0004t0004g0150 a0001c0004t0004g0152 a0001c0004t0004g0153 a0001c0004t0004g0154 a0001c0004t0004g0155 a0001c0004t0004g0157 a0001c0004t0004g0166 a0001c0004t0004g0167 a0001c0004t0004g0348 a0001c0004t0004g0349 a0001c0004t0012g0135 a0001c0004t0012g0140 a0001c0011t0001g0040 a0001c0011t0005g0345 a0001c0011t0005g0346 a0001c0026t0004g0133	35	352	0.0994	31	c.895 others(48): Show c.895+1040_895+1070dupGGGGGGCGGGGCGTGCGGGATCTCAGCG TGC	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BARHL2_chr1_90706539_90722302	90719504	G G	GAAAAAAA others(24): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01106.hp1 HG03490.hp2 others(1): Show HG01074.hp2 HG01106.hp1 HG03490.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0018 a0001c0001t0002g0005 a0001c0001t0002g0036 a0001c0001t0001g0018 a0001c0001t0002g0005 a0001c0001t0002g0036	4	446	0.0090	31	c.-23 others(42): Show c.-2310_-2309insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	BARHL2	ENSG00000143032.8	transcript	ENST00000370445.5	protein_coding		2203		chr1	TogoVar
BAZ1B_chr7_73435406_73527293	73497065	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	200	0.0050	31	c.571 others(48): Show c.571+1431_571+1432insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	4/19			chr7	TogoVar
BAZ1B_chr7_73435406_73527293	73526868	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0192 a0001c0001t0003g0192	1	200	0.0050	31	c.-49 others(42): Show c.-4936_-4935insATATATATATATATATATATATATATTTTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding		4576		chr7	TogoVar
BBOX1_chr11_27035815_27132809	27057063	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	318	0.0031	31	c.220 others(46): Show c.220-138_220-137insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	3/8			chr11	TogoVar
BBS2_chr16_56479385_56525024	56480352	C C	CACACAAA others(24): Show CACACAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	398	0.0025	31	c.44 others(42): Show c.4408_*4409insTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4032		chr16	TogoVar
BCAP29_chr7_107575246_107625478	107591656	A A	ACACACAC others(24): Show ACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02683.hp2 NA18963.hp2 others(4): Show HG00544.hp2 HG02683.hp2 NA18963.hp2 NA19007.hp2 NA19012.hp1 NA19055.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0123 others(4): Show a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0169 a0001c0001t0003g0228 a0001c0001t0004g0198	7	398	0.0176	31	c.194 others(48): Show c.194-2298_194-2297insACACACACACACACACACACACACACAC ACC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107591656	A A	ACACACAC others(24): Show ACACACACACACACACACACACACACACCCCC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	398	0.0025	31	c.194 others(48): Show c.194-2298_194-2297insACACACACACACACACACACACACACCC CCC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107599227	T T	TTATATTT others(24): Show TTATATTTATATATAAATATATATAATTTTTA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	398	0.0025	31	c.481 others(48): Show c.481-1165_481-1164insTTATATATAAATATATATAATTTTTATA TAT	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAS1_chr20_53938541_54075594	54041908	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0039 a0002c0002t0039	a0002c0002t0039g0357 a0002c0002t0039g0357	1	364	0.0028	31	c.143 others(50): Show c.143-12937_143-12936insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	3/12			chr20	TogoVar
BCAS3_chr17_60672851_61397831	60700185	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	74	0.0135	31	c.215 others(48): Show c.215-9034_215-9033insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAG	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	4/23			chr17	TogoVar
BCAS3_chr17_60672851_61397831	60973584	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0002 a0003c0001t0002	a0003c0001t0002g0022 a0003c0001t0002g0022	1	74	0.0135	31	c.122 others(52): Show c.1222-16387_1222-16386insATATATATATATATATATATATAT ATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	14/23			chr17	TogoVar
BCAS3_chr17_60672851_61397831	61044465	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0014 a0002c0005t0001g0014	1	74	0.0135	31	c.202 others(50): Show c.2029+3574_2029+3575insAAAAAAAAATATATATATATATATAT ATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61044465	A A	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0011 a0003c0001t0001g0011	1	74	0.0135	31	c.202 others(50): Show c.2029+3574_2029+3575insAAATATATATATATATATATATATAT ATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCHE_chr3_165767904_165842423	165840290	A A	AGATAGAT others(24): Show AGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0055 a0002c0002t0002g0055	1	304	0.0033	31	c.-29 others(42): Show c.-2986_-2985insATCTATCTATCTATCTATCTATCTATCTATC	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding		2868		chr3	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	458	0.0022	31	c.-43 others(42): Show c.-4377_-4376insAAAAAAATATATATATATATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(24): Show ATATATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02970.hp2 HG03017.hp1 HG02040.hp1 HG02970.hp2 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0006 a0002c0002t0001 a0002c0002t0006	a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0006g0092 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0006g0092	3	458	0.0066	31	c.-43 others(42): Show c.-4377_-4376insAAAAAAAAATATATATATATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0021	1	458	0.0022	31	c.-43 others(42): Show c.-4377_-4376insAAAAAAAAAAATATATATATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATTT others(24): Show ATATATTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0021	1	458	0.0022	31	c.-43 others(42): Show c.-4377_-4376insAAAAAAAAAAAAAAAAAAAAAAAAAAATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2_chr18_63118346_63324769	63169372	T T	TCTTTCTT others(24): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0091 a0001c0002t0039g0091	1	264	0.0038	31	c.586 others(50): Show c.586-40614_586-40613insGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAG	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BDH1_chr3_197504783_197560968	197542521	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA19083.hp2 NA18970.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0002 a0001c0001t0007g0002	2	319	0.0063	31	c.83+ others(46): Show c.83+3839_83+3840insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	3/7			chr3	TogoVar
BEND7_chr10_13436088_13534014	13472556	C C	CGATATCC others(24): Show CGATATCCGTCATCACTGTTAGATTTGGGGTT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0150 a0001c0002t0001g0150	1	300	0.0033	31	c.106 others(50): Show c.1063+8312_1063+8342dupAACCCCAAATCTAACAGTGATGACGG ATATC	BEND7	ENSG00000165626.19	transcript	ENST00000466271.3	protein_coding	6/8			chr10	TogoVar
BEST3_chr12_69648609_69704303	69680310	C C	CTTCTTTT others(24): Show CTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03139.hp2 HG02109.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0208 a0001c0001t0007g0209 a0001c0001t0007g0208 a0001c0001t0007g0209	2	366	0.0055	31	c.482 others(48): Show c.482-1418_482-1417insAAAAAAAAAAAAAAAAAAAAAAAAAAAA GAA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	4/9			chr12	TogoVar
BFSP2_chr3_133395056_133480208	133417594	C C	CTCTACTC others(24): Show CTCTACTCACTCCTCTACTCACTCCTGCCATT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0178 a0001c0002t0001g0178	1	276	0.0036	31	c.489 others(50): Show c.489+17025_489+17055dupTACTCACTCCTCTACTCACTCCTGCC ATTTC	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133426025	A A	AAGGGAAA others(24): Show AAGGGAAAGAAAGGGAAGGAAAGGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0078	1	276	0.0036	31	c.490 others(50): Show c.490-21286_490-21285insAGAAAGGGAAGGAAAGGGAAGGAAGA GGGAA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133426026	A A	AGGGAAAG others(24): Show AGGGAAAGAAAGGGAAGGAAAGGGAAGGAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	276	0.0036	31	c.490 others(50): Show c.490-21286_490-21285insAGAAAGGGAAGGAAAGGGAAGGAAAG GGGAA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BHLHA15_chr7_98206439_98220457	98215261	A A	ACCGCGAT others(24): Show ACCGCGATTGTTGCATCTGGGAAAACCCAGCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0003 a0001c0001t0049g0003	1	456	0.0022	31	c.23 others(42): Show c.2383_*2413dupCCGCGATTGTTGCATCTGGGAAAACCCAGCT	BHLHA15	ENSG00000180535.4	transcript	ENST00000609256.2	protein_coding	2/2	2414	INFO_REALIGN_3_PRIME	chr7	TogoVar
BICD1_chr12_32101847_32388633	32118090	T T	TTATTTTA others(24): Show TTATTTTATTTTATTTTATTTTATTATTATTA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0039 a0001c0001t0055g0039	1	290	0.0035	31	c.213 others(50): Show c.213+10546_213+10547insTATTTTATTTTATTTTATTTTATTAT TATTA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9			chr12	TogoVar

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