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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
BFSP2_chr3_133395056_133480208	133446571	TATATATA others(4): Show TATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00558.hp1 HG00558.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0010 a0001c0002 a0003c0010	a0001c0002t0001 a0003c0010t0001 a0001c0002t0001 a0003c0010t0001	a0001c0002t0001g0227 a0003c0010t0001g0156 a0001c0002t0001g0227 a0003c0010t0001g0156	2	276	0.0073	-11	c.490 others(26): Show c.490-745_490-735delATATATATATA		BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6						chr3	TogoVar
BGLAP_chr1_156237184_156248317	156241842	AGCTCAGC others(4): Show AGCTCAGCCAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	-11	c.-38 others(20): Show c.-389_-379delGCTCAGCCAGT		BGLAP	ENSG00000242252.2	transcript	ENST00000368272.5	protein_coding					341		chr1	TogoVar
BHLHA9_chr17_1265444_1276815	1275591	GTGTGAGT others(4): Show GTGTGAGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0000 a0001c0009t0002g0000	1	442	0.0023	-11	c.43 others(22): Show c.4321_*4331delTGTGAGTGTGT		BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding					3777		chr17	TogoVar
BHLHA9_chr17_1265444_1276815	1275592	TGTGAGTG others(4): Show TGTGAGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG03098.hp2 HG03209.hp1 others(1): Show HG02818.hp1 HG03098.hp2 HG03209.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0000 a0001c0002t0002g0000 a0001c0002t0001g0000 a0001c0002t0002g0000	4	442	0.0091	-11	c.43 others(22): Show c.4322_*4332delGTGAGTGTGTG		BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding					3778		chr17	TogoVar
BHLHE23_chr20_63000927_63011964	63011884	TTTATTTA others(4): Show TTTATTTACTGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	446	0.0022	-11	c.-51 others(22): Show c.-5121_-5111delTCAGTAAATAA		BHLHE23	ENSG00000125533.6	transcript	ENST00000612929.2	protein_coding					4921		chr20	TogoVar
BHMT2_chr5_79064767_79095069	79073371	TAGCATTT others(4): Show TAGCATTTATTG	T T	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	390	0.0026	-11	c.33+ others(26): Show c.33+3557_33+3567delAGCATTTATTG		BHMT2	ENSG00000132840.10	transcript	ENST00000255192.8	protein_coding	1/7						chr5	TogoVar
BHMT2_chr5_79064767_79095069	79076066	TTGGATCA others(4): Show TTGGATCACACA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02717.hp1 HG02970.hp1 others(2): Show HG01167.hp1 HG02717.hp1 HG02970.hp1 HG03139.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0074 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0074	5	390	0.0128	-11	c.34- others(26): Show c.34-1410_34-1400delATCACACATGG		BHMT2	ENSG00000132840.10	transcript	ENST00000255192.8	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
BICC1_chr10_58507872_58836435	58521768	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0071 a0001c0001t0007g0071	1	132	0.0076	-11	c.190 others(28): Show c.190+8463_190+8473delTTTTTTTTTTT		BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
BICC1_chr10_58507872_58836435	58828257	ATGGGGTC others(4): Show ATGGGGTCTTCT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03471.hp1 HG02922.hp1 HG03471.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0035 a0003c0004t0044 a0003c0004t0035 a0003c0004t0044	a0003c0004t0035g0044 a0003c0004t0044g0112 a0003c0004t0035g0044 a0003c0004t0044g0112	2	132	0.0152	-11	c.279 others(28): Show c.2795-502_2795-492delGGGGTCTTCTT		BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
BICC1_chr10_58507872_58836435	58829191	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0014 a0003c0004t0014	a0003c0004t0014g0066 a0003c0004t0014g0067 a0003c0004t0014g0066 a0003c0004t0014g0067	2	132	0.0152	-11	c.32 others(20): Show c.321_*331delTTTTTTTTTTT		BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	21/21				321	INFO_REALIGN_3_PRIME	chr10	TogoVar
BICD1_chr12_32101847_32388633	32246029	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03130.hp2 HG03453.hp2 others(2): Show HG01884.hp1 HG03130.hp2 HG03453.hp2 HG03540.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0032 a0001c0001t0055 others(1): Show a0001c0001t0004 a0001c0001t0032 a0001c0001t0055 a0001c0002t0007	a0001c0001t0004g0019 a0001c0001t0004g0166 a0001c0001t0032g0033 others(2): Show a0001c0001t0004g0019 a0001c0001t0004g0166 a0001c0001t0032g0033 a0001c0001t0055g0039 a0001c0002t0007g0028	5	290	0.0172	-11	c.426 others(30): Show c.426+29585_426+29595delAAAAAAAAAAA		BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32282199	CTTCTTTT others(4): Show CTTCTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01261.hp2 HG01346.hp1 others(1): Show HG00642.hp1 HG01261.hp2 HG01346.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0001t0024 a0001c0003t0013 others(1): Show a0001c0001t0008 a0001c0001t0024 a0001c0003t0013 a0001c0003t0042	a0001c0001t0008g0140 a0001c0001t0024g0209 a0001c0003t0013g0189 others(1): Show a0001c0001t0008g0140 a0001c0001t0024g0209 a0001c0003t0013g0189 a0001c0003t0042g0274	4	290	0.0138	-11	c.427 others(30): Show c.427-11792_427-11782delCTTTTTTTTTT		BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32351487	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0180 a0001c0001t0044g0180	1	290	0.0035	-11	c.276 others(32): Show c.2764+12522_2764+12532delAAAAAAAAAAA		BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32374980	GCGATCTC others(4): Show GCGATCTCGGCT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(125): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00741.hp2 HG01069.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01358.hp2 HG01496.hp1 HG01517.hp2 HG01934.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03688.hp2 HG03831.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19011.hp2 NA19057.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19080.hp1 NA19084.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0020 a0001c0001t0043 a0001c0001t0060 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0020 a0001c0002t0021 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0002t0037 a0001c0002t0040 a0001c0002t0051 a0001c0003t0002 a0001c0004t0014 a0001c0004t0062 a0001c0005t0009 a0001c0007t0050 a0002c0010t0008	a0001c0001t0001g0276 a0001c0001t0002g0199 a0001c0001t0003g0246 others(125): Show a0001c0001t0001g0276 a0001c0001t0002g0199 a0001c0001t0003g0246 a0001c0001t0004g0132 a0001c0001t0006g0021 a0001c0001t0006g0023 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0105 a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0155 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0160 a0001c0001t0006g0162 a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0006g0165 a0001c0001t0007g0167 a0001c0001t0008g0108 a0001c0001t0008g0113 a0001c0001t0008g0119 a0001c0001t0008g0123 a0001c0001t0008g0125 a0001c0001t0008g0129 a0001c0001t0008g0137 a0001c0001t0008g0140 a0001c0001t0008g0144 a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0009g0060 a0001c0001t0009g0068 a0001c0001t0009g0070 a0001c0001t0009g0081 a0001c0001t0009g0084 a0001c0001t0009g0086 a0001c0001t0009g0159 a0001c0001t0009g0183 a0001c0001t0009g0288 a0001c0001t0011g0044 a0001c0001t0011g0057 a0001c0001t0011g0080 a0001c0001t0011g0235 a0001c0001t0011g0254 a0001c0001t0011g0259 a0001c0001t0011g0269 a0001c0001t0014g0030 a0001c0001t0014g0031 a0001c0001t0017g0092 a0001c0001t0017g0093 a0001c0001t0017g0094 a0001c0001t0020g0217 a0001c0001t0043g0236 a0001c0001t0060g0244 a0001c0002t0002g0043 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0053 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0071 a0001c0002t0002g0073 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0083 a0001c0002t0002g0088 a0001c0002t0002g0121 a0001c0002t0002g0131 a0001c0002t0002g0172 a0001c0002t0002g0192 a0001c0002t0002g0195 a0001c0002t0002g0207 a0001c0002t0002g0212 a0001c0002t0002g0215 a0001c0002t0002g0228 a0001c0002t0002g0241 a0001c0002t0002g0243 a0001c0002t0002g0253 a0001c0002t0002g0263 a0001c0002t0002g0282 a0001c0002t0003g0148 a0001c0002t0003g0168 a0001c0002t0005g0001 a0001c0002t0005g0008 a0001c0002t0005g0011 a0001c0002t0005g0012 a0001c0002t0005g0104 a0001c0002t0005g0110 a0001c0002t0005g0111 a0001c0002t0005g0112 a0001c0002t0005g0116 a0001c0002t0005g0118 a0001c0002t0005g0124 a0001c0002t0005g0126 a0001c0002t0005g0127 a0001c0002t0005g0135 a0001c0002t0005g0138 a0001c0002t0005g0141 a0001c0002t0005g0151 a0001c0002t0005g0248 a0001c0002t0005g0252 a0001c0002t0005g0290 a0001c0002t0007g0022 a0001c0002t0007g0028 a0001c0002t0007g0150 a0001c0002t0008g0115 a0001c0002t0008g0145 a0001c0002t0020g0052 a0001c0002t0020g0214 a0001c0002t0021g0169 a0001c0002t0021g0249 a0001c0002t0025g0065 a0001c0002t0025g0078 a0001c0002t0026g0013 a0001c0002t0027g0120 a0001c0002t0037g0095 a0001c0002t0040g0091 a0001c0002t0051g0266 a0001c0003t0002g0240 a0001c0004t0014g0004 a0001c0004t0062g0040 a0001c0005t0009g0270 a0001c0007t0050g0186 a0002c0010t0008g0256	128	290	0.4414	-11	c.284 others(30): Show c.2841-2558_2841-2548delGATCTCGGCTC		BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD2_chr9_92706363_92769833	92769166	GGGAGTGG others(4): Show GGGAGTGGTGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0275 a0001c0001t0004g0275	1	360	0.0028	-11	c.-44 others(22): Show c.-4433_-4423delGCCACCACTCC		BICD2	ENSG00000185963.14	transcript	ENST00000356884.11	protein_coding					4334		chr9	TogoVar
BICDL1_chr12_119984236_120099494	119990342	AGGCACGC others(4): Show AGGCACGCGCCC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03471.hp2 HG02145.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0287 a0001c0001t0026g0286 a0001c0001t0001g0287 a0001c0001t0026g0286	2	296	0.0068	-11	c.429 others(24): Show c.429+49_429+59delACGCGCCCGGC		BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL1_chr12_119984236_120099494	120057818	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG01243.hp1 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0130 a0001c0001t0003g0131	2	296	0.0068	-11	c.646 others(28): Show c.646-3872_646-3862delTTTTTTTTTTT		BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
BICRAL_chr6_42777052_42873556	42793122	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	270	0.0037	-11	c.-10 others(32): Show c.-102+11050_-102+11060delTTTTTTTTTTT		BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42845195	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18992.hp1 HG02615.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0265 a0001c0001t0001g0012 a0001c0001t0001g0265	2	270	0.0074	-11	c.184 others(30): Show c.1840-6854_1840-6844delTTTTTTTTTTT		BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRA_chr19_47604134_47708277	47659727	CACACACG others(4): Show CACACACGTTCT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA20752.hp2 HG03688.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0019 a0001c0001 a0002c0019	a0001c0001t0001 a0002c0019t0001 a0001c0001t0001 a0002c0019t0001	a0001c0001t0001g0264 a0002c0019t0001g0269 a0001c0001t0001g0264 a0002c0019t0001g0269	2	312	0.0064	-11	c.-10 others(32): Show c.-107-10715_-107-10705delACACACGTTCT		BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	1/14						chr19	TogoVar
BID_chr22_17729138_17779469	17741468	GCTTTTTT others(4): Show GCTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0083 a0001c0003t0001g0083	1	362	0.0028	-11	c.224 others(28): Show c.224-1991_224-1981delAAAAAAAAAAG		BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	3/5						chr22	TogoVar
BID_chr22_17729138_17779469	17756421	TTTCTTTC others(4): Show TTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp1 HG01069.hp2 others(25): Show HG00323.hp2 HG00733.hp1 HG01069.hp2 HG01071.hp1 HG01169.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02717.hp1 HG02818.hp1 HG03130.hp2 HG03195.hp2 HG03471.hp1 HG03492.hp2 NA18522.hp1 NA18952.hp1 NA18955.hp1 NA18960.hp2 NA18967.hp2 NA19043.hp1 NA19240.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0005t0001 a0002c0002t0001	a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0061 others(25): Show a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0133 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0203 a0001c0001t0001g0211 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0280 a0001c0001t0001g0334 a0001c0001t0001g0345 a0001c0001t0002g0024 a0001c0001t0003g0155 a0001c0001t0006g0187 a0001c0005t0001g0172 a0002c0002t0001g0311 a0002c0002t0001g0343 a0002c0002t0001g0344	28	362	0.0774	-11	c.-58 others(28): Show c.-58-6258_-58-6248delGAAAGAAAGAA		BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5						chr22	TogoVar
BID_chr22_17729138_17779469	17756477	TTTCTTTC others(4): Show TTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0354 a0001c0001t0001g0354	1	362	0.0028	-11	c.-58 others(28): Show c.-58-6314_-58-6304delGAAAGAAAGAA		BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5						chr22	TogoVar
BID_chr22_17729138_17779469	17767750	CACGGAGA others(4): Show CACGGAGAGAAA	C C	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	362	0.0028	-11	c.-59 others(28): Show c.-59+6620_-59+6630delTTTCTCTCCGT		BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5						chr22	TogoVar
BIK_chr22_43105750_43134712	43130417	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG01433.hp2 others(9): Show HG01109.hp2 HG01243.hp1 HG01433.hp2 HG02055.hp1 HG02258.hp2 HG02615.hp1 HG02723.hp1 HG02976.hp1 HG03195.hp1 HG03471.hp2 HG03579.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 others(6): Show a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0080 a0001c0001t0001g0130 a0001c0001t0001g0142 a0001c0001t0001g0164 a0001c0001t0001g0186 a0001c0001t0002g0172	12	386	0.0311	-11	c.11 others(22): Show c.1113_*1123delTTTTTTTTTTT		BIK	ENSG00000100290.3	transcript	ENST00000216115.3	protein_coding					706		chr22	TogoVar
BIN1_chr2_127043032_127112154	127046507	CAGCGGCG others(4): Show CAGCGGCGAGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp2 others(57): Show HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01192.hp1 HG01258.hp2 HG01361.hp1 HG01934.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02148.hp2 HG02717.hp1 HG02735.hp1 HG02886.hp1 HG02886.hp2 HG03041.hp1 HG03471.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 NA18747.hp1 NA18939.hp2 NA18947.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp2 NA18961.hp1 NA18962.hp2 NA18970.hp1 NA18983.hp1 NA18983.hp2 NA18998.hp1 NA18999.hp2 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19055.hp1 NA19062.hp2 NA19077.hp2 NA19078.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0011	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0005 a0001c0011t0001	a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0108 others(50): Show a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0133 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0250 a0001c0001t0003g0110 a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0035 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0071 a0001c0002t0001g0075 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0097 a0001c0002t0001g0107 a0001c0002t0001g0125 a0001c0002t0001g0129 a0001c0002t0001g0136 a0001c0002t0001g0140 a0001c0002t0001g0144 a0001c0002t0001g0185 a0001c0002t0001g0188 a0001c0002t0001g0213 a0001c0002t0001g0216 a0001c0002t0001g0276 a0001c0002t0002g0314 a0001c0002t0006g0018 a0001c0004t0001g0068 a0001c0004t0001g0095 a0001c0004t0001g0164 a0001c0004t0001g0220 a0001c0004t0001g0232 a0001c0004t0002g0297 a0001c0004t0002g0300 a0001c0004t0002g0302 a0001c0004t0002g0303 a0001c0004t0002g0307 a0001c0004t0002g0308 a0001c0004t0002g0309 a0001c0004t0003g0002 a0001c0004t0003g0072 a0001c0004t0003g0160 a0001c0004t0003g0264 a0001c0004t0005g0298 a0001c0004t0005g0299 a0001c0004t0005g0304 a0001c0011t0001g0262	60	344	0.1744	-11	c.20 others(22): Show c.2008_*2018delCCCTCGCCGCT		BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding					1524		chr2	TogoVar
BIN1_chr2_127043032_127112154	127077529	AGAACATA others(4): Show AGAACATATGCT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp1 HG02257.hp1 others(5): Show HG00639.hp2 HG01070.hp1 HG02257.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03516.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 others(5): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0173 a0002c0005t0001g0098	8	344	0.0233	-11	c.85- others(24): Show c.85-834_85-824delAGCATATGTTC		BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	1/18						chr2	TogoVar
BIN2_chr12_51276038_51329174	51295578	ATATATAT others(4): Show ATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03471.hp1 HG00323.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0314 a0001c0001t0001g0119 a0001c0001t0001g0314	2	400	0.0050	-11	c.761 others(26): Show c.761+207_761+217delATATATATATA		BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	9/12						chr12	TogoVar
BIRC2_chr11_102342214_102383670	102342376	ATATATAT others(4): Show ATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03471.hp2 HG06807.hp2 HG03209.hp1 HG03471.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0025 a0001c0001t0002g0286 a0001c0001t0002g0287	3	344	0.0087	-11	c.-62 others(22): Show c.-6257_-6247delTATATATATAT		BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding					4837		chr11	TogoVar
BIRC2_chr11_102342214_102383670	102353679	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00639.hp2 others(8): Show HG00280.hp1 HG00323.hp2 HG00639.hp2 HG00741.hp2 HG01069.hp1 HG01106.hp1 HG01255.hp2 HG01258.hp1 HG01978.hp1 HG02738.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0053 a0001c0001t0001g0128 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0053 a0001c0001t0001g0128 a0001c0001t0001g0129	11	344	0.0320	-11	c.995 others(28): Show c.995+2750_995+2760delTTTTTTTTTTT		BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC3_chr11_102312484_102344403	102342376	ATATATAT others(4): Show ATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03471.hp2 HG06807.hp2 HG03209.hp2 HG03471.hp2 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0027 a0001c0004t0012 a0001c0004t0027	a0001c0004t0012g0035 a0001c0004t0012g0092 a0001c0004t0027g0030 a0001c0004t0012g0035 a0001c0004t0012g0092 a0001c0004t0027g0030	3	384	0.0078	-11	c.52 others(22): Show c.5275_*5285delTATATATATAT		BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding					2974		chr11	TogoVar
BIRC6_chr2_32352023_32623878	32369940	AAAAAAAT others(4): Show AAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp2 HG02717.hp2 others(2): Show HG02451.hp2 HG02630.hp2 HG02717.hp2 HG02922.hp2 HG02965.hp1	a0001 a0001	a0001c0007 a0001c0014 a0001c0007 a0001c0014	a0001c0007t0004 a0001c0007t0007 a0001c0014t0001 a0001c0007t0004 a0001c0007t0007 a0001c0014t0001	a0001c0007t0004g0019 a0001c0007t0004g0020 a0001c0007t0004g0022 others(2): Show a0001c0007t0004g0019 a0001c0007t0004g0020 a0001c0007t0004g0022 a0001c0007t0007g0021 a0001c0014t0001g0158	5	274	0.0183	-11	c.326 others(28): Show c.326-7646_326-7636delAAAAATATATA		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	1/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32369942	AAAAATAT others(4): Show AAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG01884.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0197 a0001c0001t0001g0198	2	274	0.0073	-11	c.326 others(28): Show c.326-7644_326-7634delAAATATATATA		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	1/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32369944	AAATATAT others(4): Show AAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0003 a0004c0019t0003	a0004c0019t0003g0142 a0004c0019t0003g0142	1	274	0.0037	-11	c.326 others(28): Show c.326-7642_326-7632delATATATATATA		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	1/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460266	ATATATAT others(4): Show ATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0003 a0001c0012t0003	a0001c0012t0003g0272 a0001c0012t0003g0272	1	274	0.0037	-11	c.475 others(30): Show c.4754-2926_4754-2916delATATATTTTTT		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460270	ATATTTTT others(4): Show ATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0051 a0001c0010t0002g0051	1	274	0.0037	-11	c.475 others(30): Show c.4754-2922_4754-2912delATTTTTTTTTT		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32480621	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0065 a0002c0002t0002g0065	1	274	0.0037	-11	c.740 others(28): Show c.7409-672_7409-662delTTTTTTTTTTT		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	37/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32508276	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG06807.hp2 NA18747.hp1 HG02965.hp2 HG06807.hp2 NA18747.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0007 a0011c0028 a0001c0001 a0001c0007 a0011c0028	a0001c0001t0001 a0001c0007t0006 a0011c0028t0002 a0001c0001t0001 a0001c0007t0006 a0011c0028t0002	a0001c0001t0001g0199 a0001c0007t0006g0185 a0011c0028t0002g0179 a0001c0001t0001g0199 a0001c0007t0006g0185 a0011c0028t0002g0179	3	274	0.0110	-11	c.998 others(26): Show c.9980+34_9980+44delTTTTTTTTTTT		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	51/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32521365	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp1 NA19240.hp1 HG01891.hp2 HG02486.hp1 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0026 a0001c0001 a0005c0026	a0001c0001t0001 a0005c0026t0001 a0001c0001t0001 a0005c0026t0001	a0001c0001t0001g0189 a0005c0026t0001g0187 a0005c0026t0001g0188 a0001c0001t0001g0189 a0005c0026t0001g0187 a0005c0026t0001g0188	3	274	0.0110	-11	c.116 others(32): Show c.11623+2437_11623+2447delAAAAAAAAAAA		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	57/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32534730	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02976.hp2 HG02559.hp1 HG02976.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0097 a0001c0015t0001g0105 a0001c0015t0001g0097 a0001c0015t0001g0105	2	274	0.0073	-11	c.122 others(32): Show c.12291+3198_12291+3208delAAAAAAAAAAA		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	61/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32553197	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp2 HG02922.hp1 others(1): Show HG02145.hp2 HG02615.hp2 HG02922.hp1 HG02965.hp1	a0001 a0004 a0001 a0004	a0001c0013 a0001c0014 a0004c0019 a0001c0013 a0001c0014 a0004c0019	a0001c0013t0003 a0001c0014t0001 a0004c0019t0003 a0001c0013t0003 a0001c0014t0001 a0004c0019t0003	a0001c0013t0003g0153 a0001c0014t0001g0156 a0001c0014t0001g0158 others(1): Show a0001c0013t0003g0153 a0001c0014t0001g0156 a0001c0014t0001g0158 a0004c0019t0003g0144	4	274	0.0146	-11	c.131 others(32): Show c.13144+3743_13144+3753delAAAAAAAAAAA		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	65/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32607975	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0166 a0002c0004t0002g0166	1	274	0.0037	-11	c.142 others(30): Show c.14259+347_14259+357delAAAAAAAAAAA		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	72/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BLACAT1_chr1_205429886_205461045	205440933	CCGTCTCC others(4): Show CCGTCTCCCGCT	C C	frameshift_variant frameshift_variant	HIGH	NA19010.hp2 NA19010.hp2	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0004 a0000c0005t0004	a0000c0005t0004g0135 a0000c0005t0004g0135	1	394	0.0025	-11	c.83_ others(16): Show c.83_93delAGCGGGAGACG	p.Glu others(4): Show p.Glu28fs	BLACAT1	ENSG00000281406.2	transcript	ENST00000629624.3	protein_coding	2/2	258/6306	83/102	28/33			chr1	TogoVar
BLK_chr8_11489387_11569599	11552490	GATGACAT others(4): Show GATGACATAAGT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0287 a0001c0001t0003g0287	1	308	0.0033	-11	c.472 others(28): Show c.472+2229_472+2239delATGACATAAGT		BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	6/12						chr8	TogoVar
BLMH_chr17_30243203_30296944	30266528	AAAAAAAA others(4): Show AAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	298	0.0034	-11	c.121 others(28): Show c.1216+346_1216+356delCTTTTTTTTTT		BLMH	ENSG00000108578.15	transcript	ENST00000261714.11	protein_coding	11/11						chr17	TogoVar
BLM_chr15_90712346_90821166	90745800	TACGCATG others(4): Show TACGCATGGCTC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	280	0.0036	-11	c.-4- others(26): Show c.-4-1586_-4-1576delGCATGGCTCAC		BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
BLM_chr15_90712346_90821166	90789987	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01515.hp1 HG02040.hp1 others(1): Show HG00544.hp2 HG01515.hp1 HG02040.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0063 a0001c0002t0001g0084 a0001c0002t0001g0157 others(1): Show a0001c0001t0001g0063 a0001c0002t0001g0084 a0001c0002t0001g0157 a0001c0002t0001g0174	4	280	0.0143	-11	c.282 others(28): Show c.2824-636_2824-626delTTTTTTTTTTT		BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	14/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
BLNK_chr10_96184171_96276569	96210863	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03579.hp1 NA19030.hp1 HG03139.hp2 HG03579.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0001 a0001c0001t0002 a0001c0001t0009	a0001c0001t0001g0183 a0001c0001t0002g0283 a0001c0001t0009g0284 a0001c0001t0001g0183 a0001c0001t0002g0283 a0001c0001t0009g0284	3	322	0.0093	-11	c.677 others(26): Show c.677-967_677-957delAAAAAAAAAAA		BLNK	ENSG00000095585.18	transcript	ENST00000224337.10	protein_coding	8/16						chr10	TogoVar
BLNK_chr10_96184171_96276569	96228086	CTTTTTTT others(4): Show CTTTTTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0041 a0001c0007t0041	a0001c0007t0041g0174 a0001c0007t0041g0174	1	322	0.0031	-11	c.205 others(26): Show c.205-531_205-521delAAGAAAAAAAA		BLNK	ENSG00000095585.18	transcript	ENST00000224337.10	protein_coding	4/16						chr10	TogoVar
BLNK_chr10_96184171_96276569	96254509	TGTTTTGT others(4): Show TGTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	322	0.0031	-11	c.48- others(26): Show c.48-7471_48-7461delCAAAACAAAAC		BLNK	ENSG00000095585.18	transcript	ENST00000224337.10	protein_coding	1/16						chr10	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)