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.

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
TNRC6A_chr16_24724651_24831218	24771561	T T	TTTATGTT others(16): Show TTTATGTTATGTTATGTTGTGATG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02615.hp1 HG02630.hp1 HG02280.hp1 HG02615.hp1 HG02630.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0017 a0004c0006t0017	a0004c0006t0017g0289 a0004c0006t0017g0307 a0004c0006t0017g0328 a0004c0006t0017g0289 a0004c0006t0017g0307 a0004c0006t0017g0328	3	352	0.0085	23	c.164 others(40): Show c.164-5355_164-5354insGTGATGTTATGTTATGTTATGTT	TNRC6A	ENSG00000090905.19	transcript	ENST00000395799.8	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr16	TogoVar
TNRC6A_chr16_24724651_24831218	24771561	T T	TTTATGTT others(16): Show TTTATGTTATGTTATGTTGTTATG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0059 a0001c0001t0004g0059	1	352	0.0028	23	c.164 others(40): Show c.164-5355_164-5354insGTTATGTTATGTTATGTTATGTT	TNRC6A	ENSG00000090905.19	transcript	ENST00000395799.8	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr16	TogoVar
TNRC6B_chr22_40172925_40340808	40173793	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0176 a0001c0001t0021g0176	1	308	0.0033	23	c.-43 others(34): Show c.-4343_-4342insTATATATATATATATATATATAT	TNRC6B	ENSG00000100354.21	transcript	ENST00000454349.7	protein_coding		4131		chr22	TogoVar
TNRC6B_chr22_40172925_40340808	40173793	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG03471.hp2 HG01175.hp1 HG03471.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0019 a0004c0004t0136 a0004c0004t0019 a0004c0004t0136	a0004c0004t0019g0207 a0004c0004t0136g0209 a0004c0004t0019g0207 a0004c0004t0136g0209	2	308	0.0065	23	c.-43 others(34): Show c.-4343_-4342insTATATATATATATATATATTTTT	TNRC6B	ENSG00000100354.21	transcript	ENST00000454349.7	protein_coding		4131		chr22	TogoVar
TNRC6C_chr17_77953703_78113822	77985603	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0239 a0001c0001t0029g0239	1	276	0.0036	23	c.-37 others(42): Show c.-37-18554_-37-18553insAAAAAAAAACAAAAAAAAAAAAA	TNRC6C	ENSG00000078687.18	transcript	ENST00000696270.1	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
TNRC6C_chr17_77953703_78113822	78004768	T T	TTTAATGT others(16): Show TTTAATGTATCTTGTAGTTTAAAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	276	0.0036	23	c.64- others(36): Show c.64-289_64-267dupTTAATGTATCTTGTAGTTTAAAC	TNRC6C	ENSG00000078687.18	transcript	ENST00000696270.1	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
TNRC6C_chr17_77953703_78113822	78086328	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0003 a0003	a0003c0030 a0003c0030	a0003c0030t0008 a0003c0030t0008	a0003c0030t0008g0255 a0003c0030t0008g0255	1	276	0.0036	23	c.409 others(40): Show c.4099-165_4099-143dupAAAAAAAAAAAAAAAAAAAAAAA	TNRC6C	ENSG00000078687.18	transcript	ENST00000696270.1	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
TNR_chr1_175310194_175748595	175331050	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCCTTC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0017 a0001c0009t0017	a0001c0009t0017g0035 a0001c0009t0017g0035	1	132	0.0076	23	c.363 others(40): Show c.3632-816_3632-815insGAAGGAAAGAAAGAAAGAAAGAA	TNR	ENSG00000116147.18	transcript	ENST00000367674.7	protein_coding	20/22			chr1	TogoVar
TNR_chr1_175310194_175748595	175331054	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCCTTC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0031 a0001c0009t0031	a0001c0009t0031g0076 a0001c0009t0031g0076	1	132	0.0076	23	c.363 others(40): Show c.3632-820_3632-819insGAAGGAAAGAAAGAAAGAAAGAA	TNR	ENSG00000116147.18	transcript	ENST00000367674.7	protein_coding	20/22			chr1	TogoVar
TNR_chr1_175310194_175748595	175331078	C C	CTTCTTCT others(16): Show CTTCTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0032 a0003c0001t0032	a0003c0001t0032g0121 a0003c0001t0032g0121	1	132	0.0076	23	c.363 others(40): Show c.3632-844_3632-843insAGAAAGAAAGAAAGAAAGAAGAA	TNR	ENSG00000116147.18	transcript	ENST00000367674.7	protein_coding	20/22			chr1	TogoVar
TNR_chr1_175310194_175748595	175370338	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0043 a0001c0005t0007g0043	1	132	0.0076	23	c.196 others(42): Show c.1964-3064_1964-3042dupAAAAAAAAAAAAAAAAAAAAAAA	TNR	ENSG00000116147.18	transcript	ENST00000367674.7	protein_coding	9/22			chr1	TogoVar
TNR_chr1_175310194_175748595	175480404	A A	AAAAGAAA others(16): Show AAAAGAAAGAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0005 a0005	a0005c0035 a0005c0035	a0005c0035t0053 a0005c0035t0053	a0005c0035t0053g0070 a0005c0035t0053g0070	1	132	0.0076	23	c.-64 others(42): Show c.-64+47864_-64+47865insCTTTCTTTCTTTTTTCTTTCTTT	TNR	ENSG00000116147.18	transcript	ENST00000367674.7	protein_coding	2/22			chr1	TogoVar
TNR_chr1_175310194_175748595	175650878	T T	TCCCCCAT others(16): Show TCCCCCATCTCATTACTACCTGTC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0018 a0001c0009t0018	a0001c0009t0018g0111 a0001c0009t0018g0111	1	132	0.0076	23	c.-16 others(44): Show c.-165+92347_-165+92348insGACAGGTAGTAATGAGATGGGGG	TNR	ENSG00000116147.18	transcript	ENST00000367674.7	protein_coding	1/22			chr1	TogoVar
TNR_chr1_175310194_175748595	175691176	A A	AGCAGAGC others(16): Show AGCAGAGCAGAACAAGGTGGCTCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp1 HG00741.hp2 others(58): Show HG00140.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01243.hp2 HG01361.hp2 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02165.hp1 HG02165.hp2 HG02559.hp1 HG02615.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG03041.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18949.hp1 NA18949.hp2 NA18953.hp1 NA18953.hp2 NA18964.hp1 NA18983.hp1 NA18983.hp2 NA18998.hp1 NA18998.hp2 NA19007.hp1 NA19007.hp2 NA19030.hp2 NA19043.hp1 NA19085.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009	a0001c0002 a0001c0003 a0001c0005 others(18): Show a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0010 a0001c0012 a0001c0042 a0001c0043 a0002c0004 a0002c0006 a0002c0007 a0002c0008 a0002c0027 a0003c0001 a0004c0019 a0004c0022 a0005c0011 a0006c0015 a0007c0038 a0007c0039 a0009c0024	a0001c0002t0001 a0001c0002t0024 a0001c0002t0060 others(33): Show a0001c0002t0001 a0001c0002t0024 a0001c0002t0060 a0001c0003t0004 a0001c0003t0008 a0001c0005t0069 a0001c0009t0017 a0001c0009t0018 a0001c0010t0012 a0001c0012t0020 a0001c0042t0001 a0001c0043t0018 a0002c0004t0003 a0002c0006t0010 a0002c0006t0058 a0002c0007t0010 a0002c0007t0044 a0002c0007t0045 a0002c0008t0006 a0002c0027t0050 a0003c0001t0002 a0003c0001t0005 a0003c0001t0014 a0003c0001t0016 a0003c0001t0036 a0003c0001t0040 a0003c0001t0041 a0003c0001t0049 a0004c0019t0029 a0004c0022t0013 a0005c0011t0011 a0005c0011t0015 a0006c0015t0009 a0007c0038t0007 a0007c0039t0019 a0009c0024t0003	a0001c0002t0001g0033 a0001c0002t0001g0038 a0001c0002t0001g0039 others(58): Show a0001c0002t0001g0033 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0047 a0001c0002t0001g0066 a0001c0002t0001g0117 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0024g0061 a0001c0002t0060g0048 a0001c0003t0004g0064 a0001c0003t0004g0065 a0001c0003t0004g0068 a0001c0003t0004g0093 a0001c0003t0004g0132 a0001c0003t0008g0114 a0001c0005t0069g0069 a0001c0009t0017g0035 a0001c0009t0017g0052 a0001c0009t0018g0111 a0001c0010t0012g0083 a0001c0012t0020g0082 a0001c0042t0001g0125 a0001c0043t0018g0055 a0002c0004t0003g0013 a0002c0004t0003g0014 a0002c0004t0003g0016 a0002c0004t0003g0017 a0002c0006t0010g0129 a0002c0006t0058g0079 a0002c0007t0010g0024 a0002c0007t0044g0078 a0002c0007t0045g0049 a0002c0008t0006g0062 a0002c0008t0006g0094 a0002c0008t0006g0115 a0002c0027t0050g0105 a0003c0001t0002g0051 a0003c0001t0002g0124 a0003c0001t0005g0019 a0003c0001t0005g0034 a0003c0001t0005g0060 a0003c0001t0005g0123 a0003c0001t0005g0128 a0003c0001t0014g0058 a0003c0001t0014g0059 a0003c0001t0016g0054 a0003c0001t0036g0106 a0003c0001t0040g0041 a0003c0001t0041g0025 a0003c0001t0049g0022 a0004c0019t0029g0042 a0004c0022t0013g0050 a0005c0011t0011g0026 a0005c0011t0015g0032 a0005c0011t0015g0057 a0006c0015t0009g0084 a0006c0015t0009g0099 a0007c0038t0007g0040 a0007c0039t0019g0098 a0009c0024t0003g0018	61	132	0.4621	23	c.-16 others(44): Show c.-165+52027_-165+52049dupAGAGCCACCTTGTTCTGCTCTGC	TNR	ENSG00000116147.18	transcript	ENST00000367674.7	protein_coding	1/22			chr1	TogoVar
TNS1_chr2_217794791_218007995	217805525	C C	CCACACAC others(16): Show CCACACACACACCACACACACCAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0009 a0009	a0009c0102 a0009c0102	a0009c0102t0108 a0009c0102t0108	a0009c0102t0108g0232 a0009c0102t0108g0232	1	244	0.0041	23	c.537 others(40): Show c.5376-923_5376-922insGTGGTGTGTGTGGTGTGTGTGTG	TNS1	ENSG00000079308.21	transcript	ENST00000682258.1	protein_coding	32/32			chr2	TogoVar
TNS3_chr7_47270154_47587111	47361206	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG00738.hp2 others(6): Show HG00323.hp1 HG00738.hp1 HG00738.hp2 HG01934.hp2 HG02630.hp2 HG03654.hp1 HG04199.hp1 NA18946.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 others(3): Show a0001c0002 a0001c0004 a0001c0005 a0001c0012 a0001c0023 a0001c0061	a0001c0002t0005 a0001c0002t0041 a0001c0004t0007 others(6): Show a0001c0002t0005 a0001c0002t0041 a0001c0004t0007 a0001c0005t0003 a0001c0005t0037 a0001c0012t0009 a0001c0012t0011 a0001c0023t0011 a0001c0061t0006	a0001c0002t0005g0098 a0001c0002t0041g0071 a0001c0004t0007g0147 others(6): Show a0001c0002t0005g0098 a0001c0002t0041g0071 a0001c0004t0007g0147 a0001c0005t0003g0125 a0001c0005t0037g0072 a0001c0012t0009g0089 a0001c0012t0011g0150 a0001c0023t0011g0136 a0001c0061t0006g0161	9	196	0.0459	23	c.228 others(42): Show c.2281+7158_2281+7159insTTTTTTTTTTTTTTTTTTTTTTT	TNS3	ENSG00000136205.18	transcript	ENST00000311160.14	protein_coding	17/30			chr7	TogoVar
TNS3_chr7_47270154_47587111	47530838	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18990.hp2 NA18946.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0141 a0001c0001t0003g0140 a0001c0001t0002g0141 a0001c0001t0003g0140	2	196	0.0102	23	c.-26 others(42): Show c.-264-1692_-264-1691insATATATATATTTTTTTTTTTTTT	TNS3	ENSG00000136205.18	transcript	ENST00000311160.14	protein_coding	1/30			chr7	TogoVar
TNS3_chr7_47270154_47587111	47533123	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0008 a0001c0015t0008	a0001c0015t0008g0022 a0001c0015t0008g0022	1	196	0.0051	23	c.-26 others(42): Show c.-264-3977_-264-3976insATATATATATATATATATATATA	TNS3	ENSG00000136205.18	transcript	ENST00000311160.14	protein_coding	1/30			chr7	TogoVar
TOB2_chr22_41428494_41451801	41449989	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0141 a0001c0001t0016g0141	1	360	0.0028	23	c.-36 others(34): Show c.-3674_-3673insCACACACACACACACACACACAC	TOB2	ENSG00000183864.5	transcript	ENST00000327492.4	protein_coding		3189		chr22	TogoVar
TOB2_chr22_41428494_41451801	41450018	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	360	0.0028	23	c.-37 others(34): Show c.-3703_-3702insCACACACACACACACACACACAC	TOB2	ENSG00000183864.5	transcript	ENST00000327492.4	protein_coding		3218		chr22	TogoVar
TOGARAM1_chr14_44957190_45079431	45063479	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0008 a0002c0003t0003g0008	1	178	0.0056	23	c.456 others(42): Show c.4560-3077_4560-3076insTTTTTTTTTTTTTTTTTTTTTTT	TOGARAM1	ENSG00000198718.13	transcript	ENST00000361462.7	protein_coding	16/19		INFO_REALIGN_3_PRIME	chr14	TogoVar
TOMM20L_chr14_58390930_58413702	58394213	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	362	0.0028	23	c.-17 others(34): Show c.-1745_-1744insTATATATATATATATTTTTTTTT	TOMM20L	ENSG00000196860.8	transcript	ENST00000360945.7	protein_coding		1716		chr14	TogoVar
TOMM20L_chr14_58390930_58413702	58394213	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	362	0.0028	23	c.-17 others(34): Show c.-1745_-1744insTATATATATATTTTTTTTTTTTT	TOMM20L	ENSG00000196860.8	transcript	ENST00000360945.7	protein_coding		1716		chr14	TogoVar
TOMM20L_chr14_58390930_58413702	58404119	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	362	0.0028	23	c.262 others(40): Show c.262+1359_262+1360insATATATATATATATATATTTTTT	TOMM20L	ENSG00000196860.8	transcript	ENST00000360945.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
TOMM20L_chr14_58390930_58413702	58404119	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03471.hp1 HG03516.hp2 others(1): Show HG01123.hp1 HG03471.hp1 HG03516.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0151 a0001c0001t0001g0337 others(1): Show a0001c0001t0001g0067 a0001c0001t0001g0151 a0001c0001t0001g0337 a0001c0001t0001g0339	4	362	0.0111	23	c.262 others(40): Show c.262+1359_262+1360insATATATATATATATATTTTTTTT	TOMM20L	ENSG00000196860.8	transcript	ENST00000360945.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
TOMM70_chr3_100358431_100406089	100376369	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03471.hp2 NA18965.hp1 others(1): Show HG02809.hp2 HG03471.hp2 NA18965.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0037 a0001c0001t0004g0134 a0001c0001t0004g0163 a0001c0001t0002g0037 a0001c0001t0004g0134 a0001c0001t0004g0163	4	398	0.0101	23	c.109 others(42): Show c.1093-1218_1093-1217insAAAAAAAAAAAAAAAAAAAAAAA	TOMM70	ENSG00000154174.8	transcript	ENST00000284320.6	protein_coding	6/11			chr3	TogoVar
TOP1_chr20_41023822_41129487	41089020	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03540.hp1 HG01243.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0311 a0001c0001t0001g0139 a0001c0001t0001g0311	2	380	0.0053	23	c.615 others(40): Show c.615-3430_615-3429insTTTTTTTTTTTTTTTTTTTTTTT	TOP1	ENSG00000198900.7	transcript	ENST00000361337.3	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
TOP3A_chr17_18266428_18319994	18288149	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0107 a0001c0005t0009g0107	1	388	0.0026	23	c.159 others(42): Show c.1597+2407_1597+2408insATATATATATATATATATATATA	TOP3A	ENSG00000177302.16	transcript	ENST00000321105.10	protein_coding	13/18			chr17	TogoVar
TOP3A_chr17_18266428_18319994	18288154	T T	TATATATA others(16): Show TATATATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19030.hp1 HG02723.hp2 NA19030.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0111 a0003c0006t0006g0112 a0003c0006t0006g0111 a0003c0006t0006g0112	2	388	0.0052	23	c.159 others(42): Show c.1597+2402_1597+2403insTTTATATATATATATATATATAT	TOP3A	ENSG00000177302.16	transcript	ENST00000321105.10	protein_coding	13/18			chr17	TogoVar
TOP3A_chr17_18266428_18319994	18297438	G G	GTCCCTCT others(16): Show GTCCCTCTCCCTCTCCCCACGGTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00408.hp2 others(79): Show HG00140.hp1 HG00280.hp2 HG00408.hp2 HG00558.hp2 HG00597.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01261.hp1 HG01358.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG02074.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02486.hp2 HG02559.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp2 HG03471.hp2 HG03490.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03927.hp2 HG03942.hp2 HG04204.hp2 HG06807.hp1 NA18947.hp2 NA18949.hp1 NA18961.hp1 NA18962.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18984.hp2 NA18990.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19010.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp2 NA19079.hp2 NA19082.hp2 NA19085.hp1 NA19086.hp2 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0005 a0001c0013 others(2): Show a0001c0001 a0001c0005 a0001c0013 a0001c0018 a0005c0009	a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 others(8): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0029 a0001c0001t0030 a0001c0005t0025 a0001c0005t0026 a0001c0013t0012 a0001c0018t0027 a0005c0009t0003	a0001c0001t0003g0005 a0001c0001t0003g0024 a0001c0001t0003g0120 others(76): Show a0001c0001t0003g0005 a0001c0001t0003g0024 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0216 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0310 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0011g0132 a0001c0001t0011g0219 a0001c0001t0011g0220 a0001c0001t0011g0221 a0001c0001t0012g0257 a0001c0001t0012g0267 a0001c0001t0015g0311 a0001c0001t0015g0315 a0001c0001t0029g0309 a0001c0001t0030g0119 a0001c0005t0025g0109 a0001c0005t0026g0105 a0001c0013t0012g0268 a0001c0018t0027g0108 a0005c0009t0003g0217 a0005c0009t0003g0218	82	388	0.2113	23	c.990 others(40): Show c.990+2098_990+2120dupGACCGTGGGGAGAGGGAGAGGGA	TOP3A	ENSG00000177302.16	transcript	ENST00000321105.10	protein_coding	9/18			chr17	TogoVar
TOP3A_chr17_18266428_18319994	18297438	G G	GTCCCTGT others(16): Show GTCCCTGTCCCTCTCCCCACGGTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG00735.hp2 others(92): Show HG00280.hp1 HG00642.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01993.hp1 HG02055.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03704.hp2 HG03831.hp2 HG04115.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18986.hp1 NA18993.hp1 NA19003.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0009 a0011 a0012	a0001c0002 a0001c0004 a0001c0005 others(7): Show a0001c0002 a0001c0004 a0001c0005 a0002c0003 a0003c0006 a0004c0007 a0006c0008 a0009c0015 a0011c0011 a0012c0017	a0001c0002t0004 a0001c0002t0017 a0001c0002t0020 others(14): Show a0001c0002t0004 a0001c0002t0017 a0001c0002t0020 a0001c0002t0022 a0001c0004t0007 a0001c0004t0010 a0001c0004t0016 a0001c0004t0019 a0001c0005t0009 a0002c0003t0005 a0002c0003t0023 a0003c0006t0006 a0004c0007t0008 a0006c0008t0006 a0009c0015t0004 a0011c0011t0021 a0012c0017t0004	a0001c0002t0004g0003 a0001c0002t0004g0010 a0001c0002t0004g0011 others(84): Show a0001c0002t0004g0003 a0001c0002t0004g0010 a0001c0002t0004g0011 a0001c0002t0004g0012 a0001c0002t0004g0043 a0001c0002t0004g0044 a0001c0002t0004g0045 a0001c0002t0004g0046 a0001c0002t0004g0047 a0001c0002t0004g0048 a0001c0002t0004g0049 a0001c0002t0004g0050 a0001c0002t0004g0051 a0001c0002t0004g0053 a0001c0002t0004g0054 a0001c0002t0004g0055 a0001c0002t0004g0056 a0001c0002t0004g0057 a0001c0002t0004g0058 a0001c0002t0004g0061 a0001c0002t0004g0062 a0001c0002t0004g0063 a0001c0002t0004g0064 a0001c0002t0004g0065 a0001c0002t0004g0066 a0001c0002t0004g0070 a0001c0002t0004g0071 a0001c0002t0004g0073 a0001c0002t0004g0074 a0001c0002t0004g0076 a0001c0002t0004g0077 a0001c0002t0004g0078 a0001c0002t0004g0079 a0001c0002t0004g0080 a0001c0002t0004g0081 a0001c0002t0004g0082 a0001c0002t0004g0085 a0001c0002t0004g0086 a0001c0002t0004g0087 a0001c0002t0004g0088 a0001c0002t0004g0090 a0001c0002t0017g0083 a0001c0002t0020g0089 a0001c0002t0022g0069 a0001c0004t0007g0032 a0001c0004t0007g0033 a0001c0004t0007g0034 a0001c0004t0007g0035 a0001c0004t0007g0036 a0001c0004t0007g0037 a0001c0004t0010g0031 a0001c0004t0010g0040 a0001c0004t0010g0041 a0001c0004t0010g0042 a0001c0004t0016g0039 a0001c0004t0019g0038 a0001c0005t0009g0004 a0001c0005t0009g0106 a0001c0005t0009g0107 a0002c0003t0005g0013 a0002c0003t0005g0094 a0002c0003t0005g0095 a0002c0003t0005g0096 a0002c0003t0005g0097 a0002c0003t0005g0098 a0002c0003t0005g0099 a0002c0003t0005g0100 a0002c0003t0005g0101 a0002c0003t0005g0102 a0002c0003t0005g0103 a0002c0003t0023g0093 a0003c0006t0006g0110 a0003c0006t0006g0111 a0003c0006t0006g0112 a0003c0006t0006g0113 a0003c0006t0006g0114 a0003c0006t0006g0115 a0004c0007t0008g0026 a0004c0007t0008g0027 a0004c0007t0008g0028 a0004c0007t0008g0029 a0004c0007t0008g0030 a0006c0008t0006g0116 a0006c0008t0006g0117 a0009c0015t0004g0060 a0011c0011t0021g0092 a0012c0017t0004g0072	95	388	0.2449	23	c.990 others(40): Show c.990+2120_990+2121insGACCGTGGGGAGAGGGACAGGGA	TOP3A	ENSG00000177302.16	transcript	ENST00000321105.10	protein_coding	9/18			chr17	TogoVar
TOPAZ1_chr3_44236886_44337098	44269471	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0017 a0017	a0017c0023 a0017c0023	a0017c0023t0001 a0017c0023t0001	a0017c0023t0001g0145 a0017c0023t0001g0145	1	258	0.0039	23	c.324 others(40): Show c.3246+179_3246+201dupTTTTTTTTTTTTTTTTTTTTTTT	TOPAZ1	ENSG00000173769.4	transcript	ENST00000309765.4	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
TOPAZ1_chr3_44236886_44337098	44298882	G G	GTATATAT others(16): Show GTATATATTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0001 a0013c0014t0001	a0013c0014t0001g0019 a0013c0014t0001g0019	1	258	0.0039	23	c.379 others(42): Show c.3798-5126_3798-5125insTATATATATATATATATATATAT	TOPAZ1	ENSG00000173769.4	transcript	ENST00000309765.4	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
TOPAZ1_chr3_44236886_44337098	44298910	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	258	0.0039	23	c.379 others(42): Show c.3798-5105_3798-5104insATATATATATATATATATATATA	TOPAZ1	ENSG00000173769.4	transcript	ENST00000309765.4	protein_coding	12/19			chr3	TogoVar
TOR1AIP1_chr1_179877285_179925076	179905010	C C	CAAAAATA others(16): Show CAAAAATATCTTTGTATGTAAAAA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0103 a0002c0001t0002g0103	1	290	0.0035	23	c.796 others(39): Show c.796+989_796+1011dupAAAAATATCTTTGTATGTAAAAA	TOR1AIP1	ENSG00000143337.19	transcript	ENST00000606911.7	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
TOX2_chr20_43909852_44074616	43951707	G G	GGTTTTTT others(16): Show GGTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	288	0.0035	23	c.100 others(42): Show c.100-21660_100-21659insGTTTTTTTTTTTTTTTTTTTTTT	TOX2	ENSG00000124191.18	transcript	ENST00000341197.9	protein_coding	1/8			chr20	TogoVar
TOX2_chr20_43909852_44074616	43951707	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02970.hp1 HG03195.hp1 others(5): Show HG01433.hp1 HG02970.hp1 HG03195.hp1 HG03540.hp2 HG03710.hp1 HG04184.hp1 NA18978.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0096 a0001c0001t0001g0157 a0001c0001t0001g0160 others(5): Show a0001c0001t0001g0096 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0199 a0001c0001t0001g0257 a0001c0001t0002g0235 a0001c0001t0003g0059 a0001c0001t0003g0143	8	288	0.0278	23	c.100 others(42): Show c.100-21639_100-21638insTTTTTTTTTTTTTTTTTTTTTTT	TOX2	ENSG00000124191.18	transcript	ENST00000341197.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
TOX2_chr20_43909852_44074616	43970528	T T	TGGTATGC others(16): Show TGGTATGCTTTATAAAATGTTCGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18522.hp1 HG02258.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0147 a0001c0001t0002g0141 a0001c0001t0002g0147	2	288	0.0069	23	c.100 others(40): Show c.100-2839_100-2838insGGTATGCTTTATAAAATGTTCGA	TOX2	ENSG00000124191.18	transcript	ENST00000341197.9	protein_coding	1/8			chr20	TogoVar
TOX2_chr20_43909852_44074616	44026229	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0170 a0001c0001t0010g0170	1	288	0.0035	23	c.411 others(42): Show c.411+19457_411+19458insTATTATATATATATATATATATA	TOX2	ENSG00000124191.18	transcript	ENST00000341197.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
TOX2_chr20_43909852_44074616	44048388	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01884.hp1 HG00673.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0214 a0001c0001t0001g0138 a0001c0001t0001g0214	2	288	0.0069	23	c.412 others(40): Show c.412-2918_412-2917insATATATATATATATATATATATA	TOX2	ENSG00000124191.18	transcript	ENST00000341197.9	protein_coding	3/8			chr20	TogoVar
TOX_chr8_58800412_59124147	58873958	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0080 a0001c0001t0004g0080	1	224	0.0045	23	c.412 others(42): Show c.412-22176_412-22154dupAAAAAAAAAAAAAAAAAAAAAAA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	3/8			chr8	TogoVar
TOX_chr8_58800412_59124147	59021479	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	224	0.0045	23	c.103 others(42): Show c.103-61472_103-61471insATATATATATATATATATATATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TOX_chr8_58800412_59124147	59021481	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	224	0.0045	23	c.103 others(42): Show c.103-61474_103-61473insATATATATATATATATATATATT	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TOX_chr8_58800412_59124147	59021481	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03516.hp1 HG03130.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0002g0192 a0001c0001t0001g0006 a0001c0001t0002g0192	2	224	0.0089	23	c.103 others(42): Show c.103-61474_103-61473insATATATATATATATATATATATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TP53INP1_chr8_94920972_94954378	94946696	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02056.hp2 HG02071.hp2 others(5): Show HG00639.hp1 HG02056.hp2 HG02071.hp2 HG02148.hp1 HG02572.hp2 HG03098.hp1 HG03927.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0016	a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 others(5): Show a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0222 a0001c0001t0001g0228 a0001c0001t0005g0217 a0001c0001t0010g0044 a0001c0001t0016g0111	8	360	0.0222	23	c.-15 others(42): Show c.-151+2435_-151+2457dupTTTTTTTTTTTTTTTTTTTTTTT	TP53INP1	ENSG00000164938.14	transcript	ENST00000342697.5	protein_coding	1/3			chr8	TogoVar
TP53RK_chr20_46679365_46694444	46687618	G G	GACCAGCC others(16): Show GACCAGCCTGGCCAACAGGGTGAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02895.hp2 HG03225.hp2 HG02280.hp2 HG02895.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0011 a0001c0001t0008g0011	3	406	0.0074	23	c.284 others(38): Show c.284-388_284-387insTTCACCCTGTTGGCCAGGCTGGT	TP53RK	ENSG00000172315.6	transcript	ENST00000372114.4	protein_coding	1/1			chr20	TogoVar
TP63_chr3_189626389_189902276	189765433	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG01256.hp1 others(5): Show HG00280.hp1 HG00639.hp1 HG01256.hp1 HG01346.hp1 HG01934.hp2 HG02683.hp2 NA19057.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0030	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0162 others(5): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0162 a0001c0001t0001g0206 a0001c0001t0002g0112 a0001c0001t0004g0173 a0001c0001t0011g0182 a0001c0001t0030g0312	8	312	0.0256	23	c.324 others(42): Show c.324+26680_324+26681insTTTTTTTTTTTTTTTTTTTTTTT	TP63	ENSG00000073282.14	transcript	ENST00000264731.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
TPCN1_chr12_113216464_113303585	113279391	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	250	0.0040	23	c.129 others(40): Show c.1297+557_1297+558insATATATATATATATTTTTTTTTT	TPCN1	ENSG00000186815.13	transcript	ENST00000335509.11	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
TPCN1_chr12_113216464_113303585	113279391	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	250	0.0040	23	c.129 others(40): Show c.1297+557_1297+558insATATATATATATTTTTTTTTTTT	TPCN1	ENSG00000186815.13	transcript	ENST00000335509.11	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
TPD52L1_chr6_125148773_125269407	125172524	A A	ATTATATA others(16): Show ATTATATATATATTATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01074.hp1 others(1): Show HG00639.hp2 HG00735.hp1 HG01074.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0002g0253 others(1): Show a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0002g0253 a0001c0001t0002g0262	4	320	0.0125	23	c.19+ others(40): Show c.19+18555_19+18556insTATATATATATTATATATATATT	TPD52L1	ENSG00000111907.21	transcript	ENST00000534000.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar

Search by Variant

Search

Search Results (Total: 8696 hits)