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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
B4GALT2_chr1_43974210_43996168	43978333	G G	GAGGAAGG others(19): Show GAGGAAGGGTAAAGAGGCCTGTACGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0084 a0001c0001t0006g0084	1	406	0.0025	26	c.-12 others(37): Show c.-1231_-1230insAGGAAGGGTAAAGAGGCCTGTACGCC	B4GALT2	ENSG00000117411.18	transcript	ENST00000372324.6	protein_coding		876		chr1	TogoVar
B4GALT5_chr20_49627945_49718878	49636907	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0207 a0001c0002t0001g0207	1	364	0.0028	26	c.101 others(43): Show c.1019+408_1019+433dupGTGTGTGTGTGTGTGTGTGTGTGTGT	B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	8/8			chr20	TogoVar
BABAM2_chr2_27885729_28343901	28026897	A A	AATATATA others(19): Show AATATATATATATTAATATATATAAAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	158	0.0063	26	c.495 others(43): Show c.495+1486_495+1487insTATTAATATATATAAATATATATATA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112151	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01433.hp2 HG01346.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0097 a0001c0001t0001g0059 a0001c0001t0001g0097	2	158	0.0127	26	c.571 others(45): Show c.571-17119_571-17118insTTCTTTCTTTCTTTCTTTCTTTCTTT	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(19): Show CGTCTCAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0135 a0001c0001t0003g0135	1	158	0.0063	26	c.681 others(45): Show c.681-40881_681-40880insGTCTCAAAAAAAAAAAAAAAAAAAAA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11			chr2	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0088 a0001c0001t0007g0088	1	194	0.0052	26	c.-16 others(45): Show c.-161-3183_-161-3182insATATATATATATTTTTTTTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0129 a0001c0003t0009g0129	1	194	0.0052	26	c.-16 others(45): Show c.-161-3183_-161-3182insATATATATATATATTTTTTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90100702	G G	GACACACA others(19): Show GACACACACATACACACACACACAGAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02698.hp1 HG03471.hp1 others(2): Show HG00738.hp2 HG02698.hp1 HG03471.hp1 HG03831.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0067 a0001c0001t0084 others(2): Show a0001c0001t0003 a0001c0001t0067 a0001c0001t0084 a0001c0002t0083 a0001c0002t0091	a0001c0001t0003g0029 a0001c0001t0067g0042 a0001c0001t0084g0021 others(2): Show a0001c0001t0003g0029 a0001c0001t0067g0042 a0001c0001t0084g0021 a0001c0002t0083g0154 a0001c0002t0091g0028	5	194	0.0258	26	c.-16 others(47): Show c.-161-11594_-161-11593insGTCTGTGTGTGTGTGTATGTGTGT GT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90100728	G G	GACACACA others(19): Show GACACACACACACACACACACACAGAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG03139.hp2 HG02055.hp1 HG02109.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0070 a0001c0001t0136 a0001c0006t0031 a0001c0001t0070 a0001c0001t0136 a0001c0006t0031	a0001c0001t0070g0147 a0001c0001t0136g0192 a0001c0006t0031g0004 a0001c0001t0070g0147 a0001c0001t0136g0192 a0001c0006t0031g0004	3	194	0.0155	26	c.-16 others(47): Show c.-161-11620_-161-11619insGTCTGTGTGTGTGTGTGTGTGTGT GT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90103029	A A	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0066 a0001c0004t0066	a0001c0004t0066g0027 a0001c0004t0066g0027	1	194	0.0052	26	c.-16 others(47): Show c.-161-13921_-161-13920insAAAATATATATATATATATATATA TA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90103029	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0161 a0001c0006t0002g0161	1	194	0.0052	26	c.-16 others(47): Show c.-161-13921_-161-13920insAAAAAATATATATATATATATATA TA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90103029	A A	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0057 a0001c0002t0057	a0001c0002t0057g0023 a0001c0002t0057g0023	1	194	0.0052	26	c.-16 others(47): Show c.-161-13921_-161-13920insAAAAAAAAAATATATATATATATA TA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BAG6_chr6_31634028_31657661	31643721	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0235 a0001c0007t0001g0235	1	427	0.0023	26	c.175 others(43): Show c.1756+168_1756+169insTTTTTTTTTTTTTTTTTTTTTTTTTT	BAG6	ENSG00000204463.14	transcript	ENST00000676615.2	protein_coding	14/25			chr6	TogoVar
BAHCC1_chr17_81390457_81471331	81418804	T T	TGTGTGTG others(19): Show TGTGTGTGCGCGCATGTGTGTGTGTAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0033 a0001c0007t0033	a0001c0007t0033g0135 a0001c0007t0033g0135	1	332	0.0030	26	c.179 others(43): Show c.179-7992_179-7991insGTGCGCGCATGTGTGTGTGTACGTGT	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81418810	C C	CGCGCATG others(19): Show CGCGCATGTGTGTGTGTACGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0244 a0002c0001t0001g0244	1	332	0.0030	26	c.179 others(43): Show c.179-7989_179-7988insCGCATGTGTGTGTGTACGTGTGTGTG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81418810	C C	CGCGCATG others(19): Show CGCGCATGTGTGTGTGTGTACGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(146): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02300.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp2 HG02895.hp1 HG03017.hp2 HG03139.hp1 HG03239.hp1 HG03491.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19060.hp2 NA19066.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(25): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0011 a0012 a0018 a0019 a0020 a0021 a0022 a0024 a0025 a0026 a0027 a0028 a0033 a0036 a0037 a0042 a0043 a0044 a0048 a0056	a0001c0003 a0001c0007 a0001c0009 others(46): Show a0001c0003 a0001c0007 a0001c0009 a0001c0010 a0001c0025 a0001c0032 a0001c0068 a0001c0085 a0001c0092 a0001c0099 a0002c0001 a0002c0016 a0002c0052 a0002c0056 a0002c0057 a0002c0081 a0003c0002 a0004c0004 a0004c0011 a0005c0005 a0005c0028 a0005c0065 a0005c0066 a0005c0096 a0006c0006 a0008c0024 a0008c0073 a0009c0013 a0009c0087 a0011c0015 a0012c0017 a0018c0106 a0019c0105 a0020c0049 a0021c0079 a0022c0078 a0024c0082 a0025c0107 a0026c0083 a0027c0088 a0028c0089 a0033c0067 a0036c0061 a0037c0060 a0042c0075 a0043c0077 a0044c0050 a0048c0045 a0056c0100	a0001c0003t0003 a0001c0007t0002 a0001c0009t0006 others(55): Show a0001c0003t0003 a0001c0007t0002 a0001c0009t0006 a0001c0010t0001 a0001c0010t0004 a0001c0025t0003 a0001c0032t0003 a0001c0068t0008 a0001c0085t0001 a0001c0092t0004 a0001c0099t0003 a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0002c0001t0007 a0002c0001t0018 a0002c0016t0001 a0002c0052t0001 a0002c0056t0001 a0002c0057t0003 a0002c0081t0001 a0003c0002t0001 a0003c0002t0004 a0003c0002t0013 a0003c0002t0028 a0003c0002t0035 a0004c0004t0002 a0004c0011t0002 a0005c0005t0008 a0005c0028t0001 a0005c0065t0005 a0005c0066t0034 a0005c0096t0005 a0006c0006t0001 a0008c0024t0001 a0008c0073t0002 a0009c0013t0006 a0009c0087t0002 a0011c0015t0001 a0012c0017t0001 a0018c0106t0010 a0019c0105t0001 a0020c0049t0003 a0021c0079t0003 a0022c0078t0005 a0024c0082t0001 a0025c0107t0002 a0026c0083t0001 a0027c0088t0004 a0028c0089t0001 a0033c0067t0001 a0036c0061t0003 a0037c0060t0032 a0042c0075t0001 a0043c0077t0001 a0044c0050t0001 a0048c0045t0001 a0056c0100t0001	a0001c0003t0003g0044 a0001c0003t0003g0046 a0001c0003t0003g0047 others(144): Show a0001c0003t0003g0044 a0001c0003t0003g0046 a0001c0003t0003g0047 a0001c0003t0003g0048 a0001c0003t0003g0059 a0001c0003t0003g0067 a0001c0003t0003g0068 a0001c0003t0003g0083 a0001c0003t0003g0184 a0001c0003t0003g0186 a0001c0003t0003g0208 a0001c0003t0003g0230 a0001c0003t0003g0231 a0001c0003t0003g0233 a0001c0003t0003g0259 a0001c0003t0003g0293 a0001c0003t0003g0300 a0001c0003t0003g0304 a0001c0007t0002g0007 a0001c0009t0006g0134 a0001c0010t0001g0082 a0001c0010t0001g0255 a0001c0010t0004g0121 a0001c0010t0004g0296 a0001c0025t0003g0065 a0001c0025t0003g0212 a0001c0032t0003g0232 a0001c0068t0008g0070 a0001c0085t0001g0073 a0001c0092t0004g0227 a0001c0099t0003g0051 a0002c0001t0001g0004 a0002c0001t0001g0028 a0002c0001t0001g0030 a0002c0001t0001g0033 a0002c0001t0001g0035 a0002c0001t0001g0036 a0002c0001t0001g0076 a0002c0001t0001g0081 a0002c0001t0001g0084 a0002c0001t0001g0086 a0002c0001t0001g0088 a0002c0001t0001g0091 a0002c0001t0001g0108 a0002c0001t0001g0131 a0002c0001t0001g0136 a0002c0001t0001g0141 a0002c0001t0001g0157 a0002c0001t0001g0169 a0002c0001t0001g0174 a0002c0001t0001g0176 a0002c0001t0001g0187 a0002c0001t0001g0203 a0002c0001t0001g0223 a0002c0001t0001g0224 a0002c0001t0001g0225 a0002c0001t0001g0278 a0002c0001t0001g0279 a0002c0001t0001g0285 a0002c0001t0001g0287 a0002c0001t0001g0292 a0002c0001t0002g0074 a0002c0001t0002g0142 a0002c0001t0005g0064 a0002c0001t0007g0090 a0002c0001t0018g0040 a0002c0016t0001g0052 a0002c0016t0001g0181 a0002c0016t0001g0316 a0002c0052t0001g0045 a0002c0056t0001g0038 a0002c0057t0003g0284 a0002c0081t0001g0043 a0003c0002t0001g0002 a0003c0002t0001g0039 a0003c0002t0001g0049 a0003c0002t0001g0056 a0003c0002t0001g0057 a0003c0002t0001g0062 a0003c0002t0001g0075 a0003c0002t0001g0095 a0003c0002t0001g0096 a0003c0002t0001g0097 a0003c0002t0001g0098 a0003c0002t0001g0100 a0003c0002t0001g0101 a0003c0002t0001g0103 a0003c0002t0001g0104 a0003c0002t0001g0105 a0003c0002t0001g0106 a0003c0002t0001g0107 a0003c0002t0001g0111 a0003c0002t0001g0183 a0003c0002t0001g0209 a0003c0002t0004g0115 a0003c0002t0004g0172 a0003c0002t0004g0194 a0003c0002t0004g0229 a0003c0002t0004g0280 a0003c0002t0004g0295 a0003c0002t0013g0168 a0003c0002t0013g0173 a0003c0002t0028g0299 a0003c0002t0035g0197 a0004c0004t0002g0061 a0004c0004t0002g0158 a0004c0004t0002g0167 a0004c0004t0002g0240 a0004c0004t0002g0241 a0004c0011t0002g0120 a0005c0005t0008g0078 a0005c0005t0008g0087 a0005c0005t0008g0188 a0005c0005t0008g0297 a0005c0005t0008g0298 a0005c0028t0001g0226 a0005c0065t0005g0179 a0005c0066t0034g0313 a0005c0096t0005g0199 a0006c0006t0001g0009 a0008c0024t0001g0175 a0008c0073t0002g0193 a0009c0013t0006g0072 a0009c0087t0002g0089 a0011c0015t0001g0119 a0011c0015t0001g0166 a0012c0017t0001g0180 a0012c0017t0001g0228 a0012c0017t0001g0301 a0018c0106t0010g0328 a0019c0105t0001g0249 a0020c0049t0003g0079 a0021c0079t0003g0192 a0022c0078t0005g0063 a0024c0082t0001g0236 a0025c0107t0002g0250 a0026c0083t0001g0099 a0027c0088t0004g0165 a0028c0089t0001g0261 a0033c0067t0001g0305 a0036c0061t0003g0189 a0037c0060t0032g0125 a0042c0075t0001g0085 a0043c0077t0001g0094 a0044c0050t0001g0102 a0048c0045t0001g0254 a0056c0100t0001g0237	149	332	0.4488	26	c.179 others(43): Show c.179-7989_179-7988insCGCATGTGTGTGTGTGTACGTGTGTG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0252 a0001c0007t0003g0252	1	298	0.0034	26	c.128 others(43): Show c.128-1893_128-1892insATATTTTTTTTTTTTTTTTTTTTTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0214 a0001c0002t0001g0214	1	298	0.0034	26	c.128 others(43): Show c.128-1893_128-1892insATATATATATATATATTTTTTTTTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01099.hp2 HG02818.hp2 HG00544.hp2 HG01099.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0002 a0001c0002t0001 a0001c0008t0002	a0001c0002t0001g0200 a0001c0002t0001g0210 a0001c0008t0002g0131 a0001c0002t0001g0200 a0001c0002t0001g0210 a0001c0008t0002g0131	3	298	0.0101	26	c.128 others(43): Show c.128-1893_128-1892insATATATATATATATATATTTTTTTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA19007.hp1 NA20300.hp1 HG03453.hp1 NA19007.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0020 a0001c0002t0001g0160 a0001c0002t0001g0165 a0001c0001t0002g0020 a0001c0002t0001g0160 a0001c0002t0001g0165	3	298	0.0101	26	c.128 others(43): Show c.128-1893_128-1892insATATATATATATATATATATTTTTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA18964.hp2 HG01074.hp1 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0167 a0001c0002t0001g0221 a0001c0002t0001g0167 a0001c0002t0001g0221	2	298	0.0067	26	c.128 others(43): Show c.128-1893_128-1892insATATATATATATATATATATATTTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2_chr17_81030151_81122434	81055569	G G	GGTTTTTT others(19): Show GGTTTTTTTTTTGTTGTTTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0271 a0002c0002t0002g0271	1	376	0.0027	26	c.130 others(43): Show c.130+1826_130+1827insGTTTTTTTTTTGTTGTTTTTTTTTGT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13			chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81055569	G G	GGTTTTTT others(19): Show GGTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01106.hp1 HG01952.hp2 others(11): Show HG00673.hp2 HG01106.hp1 HG01952.hp2 HG01981.hp1 HG02523.hp1 HG03704.hp1 HG04228.hp2 NA18970.hp1 NA18977.hp1 NA18998.hp1 NA19004.hp1 NA19057.hp1 NA19063.hp1 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0038 a0002c0002t0002	a0001c0001t0001g0073 a0001c0001t0004g0032 a0001c0001t0004g0058 others(11): Show a0001c0001t0001g0073 a0001c0001t0004g0032 a0001c0001t0004g0058 a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0001t0004g0092 a0001c0001t0004g0364 a0001c0001t0009g0019 a0001c0001t0038g0033 a0002c0002t0002g0087 a0002c0002t0002g0091 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095	14	376	0.0372	26	c.130 others(43): Show c.130+1826_130+1827insGTTTTTTTTTTTTTTTTTTTTTTTTT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13			chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81055569	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTGTTGTTTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03540.hp2 HG03710.hp1 others(1): Show HG02738.hp1 HG03540.hp2 HG03710.hp1 HG03927.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0002c0002t0002	a0001c0001t0001g0270 a0001c0001t0003g0316 a0001c0003t0001g0216 others(1): Show a0001c0001t0001g0270 a0001c0001t0003g0316 a0001c0003t0001g0216 a0002c0002t0002g0272	4	376	0.0106	26	c.130 others(43): Show c.130+1830_130+1831insTTTTTTTGTTGTTTTTTTTTGTTTTT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81119240	A A	AGGAGCGG others(19): Show AGGAGCGGGGCCGGGAAGGAGCGGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0356 a0002c0002t0002g0356	1	376	0.0027	26	c.34 others(37): Show c.3401_*3402insGGAGCGGGGCCGGGAAGGAGCGGAGC	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding		1807		chr17	TogoVar
BAMBI_chr10_28672521_28687932	28683987	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG01168.hp2 others(9): Show HG00280.hp2 HG00544.hp1 HG01168.hp2 HG01361.hp2 HG02071.hp2 HG02486.hp2 HG02615.hp2 HG03491.hp1 NA19062.hp2 NA19085.hp1 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0004 a0001c0001t0003g0005 others(3): Show a0001c0001t0001g0001 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0010 a0001c0001t0003g0042 a0001c0001t0003g0051	12	436	0.0275	26	c.15 others(37): Show c.1586_*1587insAAAAAAAAAAAAAAAAAAAAAAAAAA	BAMBI	ENSG00000095739.11	transcript	ENST00000375533.6	protein_coding		1056		chr10	TogoVar
BANK1_chr4_101785730_102079812	101947309	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00733.hp2 HG01952.hp2 others(16): Show HG00544.hp2 HG00733.hp2 HG01952.hp2 HG02027.hp1 HG02055.hp2 HG02523.hp1 HG02723.hp2 HG02809.hp1 HG03041.hp2 HG03471.hp1 HG03490.hp1 NA18949.hp2 NA18953.hp1 NA18974.hp1 NA19005.hp1 NA19010.hp2 NA19081.hp1 NA19086.hp2 NA20805.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0018 others(1): Show a0001c0001 a0001c0002 a0001c0018 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0001c0018t0003 a0005c0006t0001	a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0025 others(16): Show a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0147 a0001c0001t0001g0160 a0001c0001t0003g0072 a0001c0002t0003g0050 a0001c0002t0003g0249 a0001c0002t0003g0253 a0001c0018t0003g0119 a0005c0006t0001g0006 a0005c0006t0001g0271	19	284	0.0669	26	c.120 others(47): Show c.1206+29123_1206+29124insATATATATATATATATATATATGT AT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	101947309	A A	ATATATAT others(19): Show ATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	284	0.0035	26	c.120 others(47): Show c.1206+29123_1206+29124insATATATATATATATATATGTATGT AT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	102007144	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02056.hp1 HG02132.hp1 others(1): Show HG01934.hp2 HG02056.hp1 HG02132.hp1 NA18942.hp2	a0003 a0004 a0003 a0004	a0003c0004 a0004c0005 a0003c0004 a0004c0005	a0003c0004t0001 a0003c0004t0003 a0004c0005t0001 a0003c0004t0001 a0003c0004t0003 a0004c0005t0001	a0003c0004t0001g0012 a0003c0004t0003g0267 a0004c0005t0001g0081 others(1): Show a0003c0004t0001g0012 a0003c0004t0003g0267 a0004c0005t0001g0081 a0004c0005t0001g0156	4	284	0.0141	26	c.120 others(47): Show c.1207-14369_1207-14368insATATATATATATATATATATATAT AT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANP_chr16_87946434_88082316	88052433	T T	TGAAGACA others(19): Show TGAAGACAGTAGACAGGAGCTTTTCTA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	352	0.0028	26	c.131 others(47): Show c.1312-12832_1312-12807dupAAGACAGTAGACAGGAGCTTTTCT AG	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	88059059	T T	TGGTCCGT others(19): Show TGGTCCGTGCTCCTGCTGGTGTGCTGA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	352	0.0028	26	c.131 others(45): Show c.1312-6130_1312-6105dupAGGTCCGTGCTCCTGCTGGTGTGCTG	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BARHL2_chr1_90706539_90722302	90719504	G G	GAAAAAAA others(19): Show GAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00741.hp1 HG02523.hp1 others(4): Show HG00609.hp2 HG00741.hp1 HG02523.hp1 HG03041.hp2 NA19030.hp1 NA19030.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0018 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0002g0059 a0001c0001t0002g0092	7	446	0.0157	26	c.-23 others(37): Show c.-2310_-2309insTTTTTTTTTTTTTTTTTTTTTTTTTT	BARHL2	ENSG00000143032.8	transcript	ENST00000370445.5	protein_coding		2203		chr1	TogoVar
BASP1_chr5_17212631_17281834	17217071	T T	TGTGAGAG others(19): Show TGTGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01496.hp1 HG01496.hp2 others(8): Show HG01099.hp2 HG01496.hp1 HG01496.hp2 HG01978.hp1 HG02300.hp1 HG02738.hp2 NA18944.hp1 NA18955.hp1 NA19067.hp2 NA19072.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0029 others(2): Show a0001c0001t0005 a0001c0001t0011 a0001c0001t0029 a0001c0001t0054 a0001c0001t0055	a0001c0001t0005g0018 a0001c0001t0005g0317 a0001c0001t0005g0319 others(7): Show a0001c0001t0005g0018 a0001c0001t0005g0317 a0001c0001t0005g0319 a0001c0001t0005g0320 a0001c0001t0011g0323 a0001c0001t0011g0326 a0001c0001t0029g0001 a0001c0001t0029g0321 a0001c0001t0054g0318 a0001c0001t0055g0338	11	370	0.0297	26	c.-74 others(35): Show c.-749_-748insGTGAGAGAGAGAGAGAGAGAGAGAGA	BASP1	ENSG00000176788.9	transcript	ENST00000322611.4	protein_coding		559		chr5	TogoVar
BATF2_chr11_64982945_65001971	65000934	C C	CTCTCTTT others(19): Show CTCTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	404	0.0025	26	c.-40 others(37): Show c.-4021_-4020insAAGAAAGAAAGAAAGAAAGAAAGAGA	BATF2	ENSG00000168062.10	transcript	ENST00000301887.9	protein_coding		3964		chr11	TogoVar
BATF3_chr1_212681417_212704840	212681420	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 NA19058.hp2 HG02040.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0001 a0001c0001t0001g0011	2	462	0.0043	26	c.53 others(37): Show c.5370_*5371insAAAAAAAAAAAAAAAAAAAAAAAAAA	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding		4996		chr1	TogoVar
BAZ1A_chr14_34747731_34880360	34832209	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01192.hp1 HG01361.hp1 others(8): Show HG00735.hp1 HG01192.hp1 HG01361.hp1 HG01928.hp2 HG01934.hp1 NA18940.hp2 NA18949.hp2 NA18955.hp2 NA18977.hp1 NA19070.hp1 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0005 a0001c0002t0003 a0001c0003t0005	a0001c0002t0003g0143 a0001c0002t0003g0163 a0001c0002t0003g0165 others(8): Show a0001c0002t0003g0143 a0001c0002t0003g0163 a0001c0002t0003g0165 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0180 a0001c0003t0005g0374 a0001c0003t0005g0375 a0001c0003t0005g0376 a0001c0003t0005g0377 a0001c0003t0005g0378	11	380	0.0290	26	c.393 others(43): Show c.393-6054_393-6053insATATATATATATATATATATATATAT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832211	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA20300.hp2 NA18960.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0154 a0001c0002t0003g0167 a0001c0002t0003g0154 a0001c0002t0003g0167	2	380	0.0053	26	c.393 others(43): Show c.393-6056_393-6055insATATATATATATATATATATATATAT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(19): Show CACACACACACACACACATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA18952.hp1 NA18971.hp1 others(4): Show HG01243.hp2 NA18952.hp1 NA18971.hp1 NA18979.hp1 NA18994.hp2 NA19001.hp1 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0002t0001g0102 a0001c0002t0002g0058 a0001c0002t0002g0080 others(4): Show a0001c0002t0001g0102 a0001c0002t0002g0058 a0001c0002t0002g0080 a0001c0002t0002g0121 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0003g0060	7	380	0.0184	26	c.393 others(43): Show c.393-6060_393-6059insATATATATATGTGTGTGTGTGTGTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(19): Show CACACACACACACACATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp1 HG01071.hp2 others(7): Show HG00642.hp2 HG01070.hp1 HG01071.hp2 HG01168.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01515.hp1 HG01975.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0104 a0001c0002t0002g0108 a0001c0002t0002g0109 others(7): Show a0001c0002t0002g0104 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0122 a0001c0002t0002g0131 a0001c0002t0002g0132	10	380	0.0263	26	c.393 others(43): Show c.393-6060_393-6059insATATATATATATGTGTGTGTGTGTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(19): Show CACACACACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0366 a0001c0002t0004g0366	1	380	0.0026	26	c.393 others(43): Show c.393-6060_393-6059insATATATATATATATATGTGTGTGTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(19): Show CACACACACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp2 HG02257.hp1 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0364 a0001c0002t0004g0365 a0001c0002t0004g0364 a0001c0002t0004g0365	2	380	0.0053	26	c.393 others(43): Show c.393-6060_393-6059insATATATATATATATATATGTGTGTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832228	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0174 a0001c0002t0003g0174	1	380	0.0026	26	c.393 others(43): Show c.393-6073_393-6072insCATATATATATATATATATATATATA	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1B_chr7_73435406_73527293	73497065	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	200	0.0050	26	c.571 others(43): Show c.571+1431_571+1432insTTTTTTTTTTTTTTTTTTTTTTTTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	4/19			chr7	TogoVar
BAZ2A_chr12_56590596_56635326	56597637	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0072 a0001c0002t0072	a0001c0002t0072g0207 a0001c0002t0072g0207	1	316	0.0032	26	c.95 others(35): Show c.955_*980dupGTGTGTGTGTGTGTGTGTGTGTGTGT	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	29/29	980		chr12	TogoVar
BBOX1_chr11_27035815_27132809	27057063	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01192.hp1 HG01346.hp1 others(2): Show HG01169.hp1 HG01192.hp1 HG01346.hp1 HG01496.hp2 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0191 others(2): Show a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0196	5	318	0.0157	26	c.220 others(41): Show c.220-138_220-137insAAAAAAAAAAAAAAAAAAAAAAAAAA	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	3/8			chr11	TogoVar
BBS2_chr16_56479385_56525024	56480352	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	398	0.0025	26	c.44 others(37): Show c.4408_*4409insTTTTTTTTTTTTTTTTTTTTTTTTTT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4032		chr16	TogoVar
BBX_chr3_107517962_107816339	107778994	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01192.hp2 HG01993.hp1 others(1): Show HG00735.hp2 HG01192.hp2 HG01993.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0036 a0001c0001t0045 others(1): Show a0001c0001t0006 a0001c0001t0036 a0001c0001t0045 a0001c0001t0052	a0001c0001t0006g0175 a0001c0001t0036g0174 a0001c0001t0045g0034 others(1): Show a0001c0001t0006g0175 a0001c0001t0036g0174 a0001c0001t0045g0034 a0001c0001t0052g0029	4	222	0.0180	26	c.220 others(43): Show c.2203+477_2203+502dupTATATATATATATATATATATATATA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107797337	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp1 HG01358.hp1 others(23): Show HG00099.hp1 HG00738.hp1 HG01358.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp2 HG02004.hp1 HG02055.hp2 HG02083.hp2 HG02486.hp2 HG02630.hp2 HG02723.hp1 HG02886.hp2 HG03540.hp2 HG03579.hp1 HG04204.hp2 NA18942.hp2 NA18948.hp1 NA18971.hp1 NA18975.hp1 NA18988.hp1 NA19012.hp1 NA19043.hp2 NA19070.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0019 a0001c0001t0031 a0001c0001t0047 a0001c0001t0055 a0001c0001t0056 a0002c0002t0002 a0002c0002t0005 a0003c0003t0008 a0003c0003t0032 a0003c0003t0033 a0005c0006t0048	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0033 others(23): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0072 a0001c0001t0001g0111 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0201 a0001c0001t0002g0209 a0001c0001t0007g0066 a0001c0001t0007g0134 a0001c0001t0008g0043 a0001c0001t0009g0146 a0001c0001t0019g0080 a0001c0001t0031g0136 a0001c0001t0047g0172 a0001c0001t0055g0040 a0001c0001t0056g0167 a0002c0002t0002g0002 a0002c0002t0005g0010 a0003c0003t0008g0044 a0003c0003t0032g0016 a0003c0003t0033g0005 a0005c0006t0048g0004	26	222	0.1171	26	c.235 others(45): Show c.2354-1184_2354-1159dupTATATATATATATATATATATATATA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107797364	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01257.hp2 HG02809.hp2 others(1): Show HG00735.hp2 HG01257.hp2 HG02809.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0052 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0052 a0001c0001t0054	a0001c0001t0005g0083 a0001c0001t0006g0188 a0001c0001t0052g0029 others(1): Show a0001c0001t0005g0083 a0001c0001t0006g0188 a0001c0001t0052g0029 a0001c0001t0054g0022	4	222	0.0180	26	c.235 others(45): Show c.2354-1159_2354-1158insTATATATATATATATATATATATATG	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	15/17			chr3	TogoVar
BCAN_chr1_156637117_156664528	156643633	C C	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0151 a0003c0004t0001g0151	1	420	0.0024	26	c.-9+ others(41): Show c.-9+1359_-9+1360insGAGAGAGAGAGAGAGAGAGAGAGAGA	BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)