Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HRH3_chr20_62209960_62225278	62213390	G G	GGGAGGGA others(33): Show GGGAGGGAGAGCAGGGATGGGGGGAAGGGAGAGCAGGGATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	1	368	0.0027	40	c.26 others(51): Show c.2615_*2616insGATCCCTGCTCTCCCTTCCCCCCATCCCTGCTCT CCCTCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1569		chr20	TogoVar
HS2ST1_chr1_86909635_87114982	86976704	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	154	0.0065	40	c.124 others(59): Show c.124+61561_124+61562insATATATATATATATATATATATATAT ATATATATATATAT	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
HS3ST2_chr16_22809162_22921338	22818819	T T	TTCCTTCC others(33): Show TTCCTTCCTTCCTTCATTCCTTCCTTCCTTCATTCCTTCCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02145.hp2 others(1): Show HG01243.hp2 HG01891.hp2 HG02145.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0286 a0001c0001t0001g0292 a0001c0001t0001g0297 others(1): Show a0001c0001t0001g0286 a0001c0001t0001g0292 a0001c0001t0001g0297 a0001c0002t0001g0007	4	350	0.0114	40	c.485 others(57): Show c.485+3738_485+3739insATTCCTTCCTTCCTTCATTCCTTCCCTC CTTCCTTCCTTC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST3B1_chr17_14296081_14354404	14329367	A A	AAGAAAAG others(33): Show AAGAAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0087 a0001c0002t0087	a0001c0002t0087g0279 a0001c0002t0087g0279	1	432	0.0023	40	c.555 others(59): Show c.555-15660_555-15659insGAAAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGA	HS3ST3B1	ENSG00000125430.9	transcript	ENST00000360954.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr17	TogoVar
HS3ST4_chr16_25686959_26142685	25828298	T T	TTCTTTCT others(33): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCCCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0134	1	164	0.0061	40	c.734 others(61): Show c.734+135149_734+135150insTTTCTTTCTTTCTTTCTTTCTTTC CCTCTCTCTCTCTCTC	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25904163	A A	AATGGATG others(33): Show AATGGATGGATGGATGGATGGATGGATGAATGGATGAATGG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	164	0.0061	40	c.734 others(61): Show c.734+211033_734+211034insTGGATGAATGGATGAATGGATGGA TGGATGGATGGATGGA	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	26115251	A A	ATATATAT others(33): Show ATATATATATATACATATACATATATATGTATATGTATATG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01109.hp1 HG02056.hp2 others(5): Show HG00140.hp1 HG01109.hp1 HG02056.hp2 HG03239.hp2 NA18993.hp2 NA19005.hp2 NA19009.hp2 NA19012.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0022 a0006c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0115 a0001c0001t0002g0054 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0115 a0001c0001t0002g0054 a0001c0001t0004g0089 a0001c0001t0011g0145 a0001c0001t0012g0044 a0001c0001t0022g0143 a0006c0008t0001g0074	8	164	0.0488	40	c.735 others(59): Show c.735-20355_735-20354insTATATACATATACATATATATGTATA TGTATATGTATATA	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS6ST3_chr13_96085107_96844562	96304679	T T	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0081 a0001c0001t0026g0081	1	116	0.0086	40	c.707 others(61): Show c.707+213145_707+213146insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96381410	G G	GTATCTAT others(33): Show GTATCTATGTATCTATCTATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	116	0.0086	40	c.707 others(61): Show c.707+289848_707+289849insGTATCTATCTATCTATCTATCTAT CTATCTATCTATCTAT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96381410	G G	GTATCTAT others(33): Show GTATCTATGTATCTATGTATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	116	0.0086	40	c.707 others(61): Show c.707+289848_707+289849insGTATCTATGTATCTATCTATCTAT CTATCTATCTATCTAT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HSD17B14_chr19_48808018_48841491	48826528	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03669.hp2 NA19056.hp1 HG03239.hp2 HG03669.hp2 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0035 a0001c0001t0001g0233 a0002c0002t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0233 a0002c0002t0001g0029	3	394	0.0076	40	c.369 others(57): Show c.369+5139_369+5140insATATATATATATATATATATATATATAT ATATATATATAT	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0287 a0001c0001t0002g0287	1	374	0.0027	40	c.202 others(59): Show c.202-17463_202-17462insTATATATATATATATATAGAGAGAGA GAGAGAGAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02280.hp1 HG01993.hp2 HG02280.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0163 a0002c0002t0002g0302 a0001c0001t0001g0163 a0002c0002t0002g0302	2	374	0.0054	40	c.202 others(59): Show c.202-17463_202-17462insTATATATATATAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0305 a0002c0002t0002g0305	1	374	0.0027	40	c.202 others(59): Show c.202-17463_202-17462insTATATATATAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	374	0.0027	40	c.202 others(59): Show c.202-17463_202-17462insTATAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSPBAP1_chr3_122734999_122798831	122743010	A A	ATCGGAGT others(33): Show ATCGGAGTTCCTCAGAGAAACAGAACCAACAGAAGATACAG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0276 a0001c0001t0002g0276	1	350	0.0029	40	c.826 others(57): Show c.826-1937_826-1898dupCTGTATCTTCTGTTGGTTCTGTTTCTCT GAGGAACTCCGA	HSPBAP1	ENSG00000169087.11	transcript	ENST00000306103.3	protein_coding	6/7			chr3	TogoVar
HTR1D_chr1_23186895_23222502	23218508	T T	TTTGGTTG others(33): Show TTTGGTTGGTTGGTTGGTTGGTTTGTTGGTTGGTTGGTTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 NA19030.hp1 HG03486.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0034 a0001c0001t0004g0035	2	356	0.0056	40	c.-20 others(51): Show c.-2001_-2000insCCAACCAACCAACCAACAAACCAACCAACCAACC AACCAA	HTR1D	ENSG00000179546.5	transcript	ENST00000374619.2	protein_coding		1007		chr1	TogoVar
HTR3B_chr11_113899796_113954079	113926468	T T	TTTTCCTT others(33): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01928.hp1 HG02818.hp1 others(2): Show HG01884.hp1 HG01928.hp1 HG02818.hp1 NA18983.hp1 NA19068.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0005 a0001c0001t0031 a0001c0001t0067 others(1): Show a0001c0001t0005 a0001c0001t0031 a0001c0001t0067 a0004c0007t0019	a0001c0001t0005g0034 a0001c0001t0005g0037 a0001c0001t0031g0045 others(2): Show a0001c0001t0005g0034 a0001c0001t0005g0037 a0001c0001t0031g0045 a0001c0001t0067g0054 a0004c0007t0019g0313	5	418	0.0120	40	c.214 others(57): Show c.214-4887_214-4848dupCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTT	HTR3B	ENSG00000149305.8	transcript	ENST00000260191.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
HTRA3_chr4_8264754_8312098	8294616	C C	CCACCCAC others(33): Show CCACCCACCCACCCACCCACCCACCTATCCGCCCATCCATT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0111 a0009c0008t0001g0111	1	388	0.0026	40	c.105 others(57): Show c.1051+417_1051+418insCCCACCCACCCACCCACCCACCTATCCG CCCATCCATTCA	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTRA3_chr4_8264754_8312098	8294619	T T	TCCACCCA others(33): Show TCCACCCACCCACCCACCCACCTATCCGCCCATCCATTCAC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	388	0.0026	40	c.105 others(57): Show c.1051+421_1051+422insCCCACCCACCCACCCACCTATCCGCCCA TCCATTCACCCA	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTRA3_chr4_8264754_8312098	8294620	C C	CCACCCAC others(33): Show CCACCCACCCACCCACCCACCCACCTATCCGCCCATCCATT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02896.hp1 HG02896.hp2 others(2): Show HG01433.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0002 a0001c0001t0002 a0001c0005t0002	a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0157 others(2): Show a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0157 a0001c0001t0002g0195 a0001c0005t0002g0155	5	388	0.0129	40	c.105 others(57): Show c.1051+421_1051+422insCCCACCCACCCACCCACCCACCTATCCG CCCATCCATTCA	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTT_chr4_3069681_3248957	3074612	T T	TGGCCCCG others(33): Show TGGCCCCGCCTCCGCCGGCGCGGCCCCGCCTCCGCCGGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0003 a0007c0007t0003	a0007c0007t0003g0025 a0007c0007t0003g0025	1	294	0.0034	40	c.-21 others(49): Show c.-214_-213insGGCCCCGCCTCCGCCGGCGCGGCCCCGCCTCCGCCG GCGC	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding		68		chr4	TogoVar
HTT_chr4_3069681_3248957	3169003	A A	ATTCTTTC others(33): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0003 a0014c0014t0003	a0014c0014t0003g0021 a0014c0014t0003g0021	1	294	0.0034	40	c.386 others(59): Show c.3865-3295_3865-3294insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	29/66		INFO_REALIGN_3_PRIME	chr4	TogoVar
HUS1_chr7_47958288_47984615	47959615	C C	CCTCTGCC others(33): Show CCTCTGCCCGGCAGCCACCCCGTCTGGGAAGTGAGGAGCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0029 a0001c0001t0009g0029	2	410	0.0049	40	c.57 others(51): Show c.5740_*5741insACGCTCCTCACTTCCCAGACGGGGTGGCTGCCGG GCAGAG	HUS1	ENSG00000136273.13	transcript	ENST00000258774.10	protein_coding		3672		chr7	TogoVar
HUS1_chr7_47958288_47984615	47959619	C C	CGCCCGGC others(33): Show CGCCCGGCAGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(155): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00597.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02630.hp2 HG02698.hp1 HG02723.hp1 HG02738.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18963.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA19000.hp2 NA19002.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19057.hp2 NA19060.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19075.hp1 NA19076.hp2 NA19077.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA20129.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0007 a0001c0002 a0003c0007	a0001c0002t0002 a0001c0002t0008 a0001c0002t0010 others(4): Show a0001c0002t0002 a0001c0002t0008 a0001c0002t0010 a0001c0002t0017 a0001c0002t0018 a0001c0002t0019 a0003c0007t0002	a0001c0002t0002g0001 a0001c0002t0002g0009 a0001c0002t0002g0013 others(43): Show a0001c0002t0002g0001 a0001c0002t0002g0009 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0018 a0001c0002t0002g0022 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0101 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0008g0028 a0001c0002t0010g0096 a0001c0002t0010g0103 a0001c0002t0017g0102 a0001c0002t0018g0104 a0001c0002t0019g0100 a0003c0007t0002g0122	158	410	0.3854	40	c.57 others(51): Show c.5736_*5737insAGAGACGCTCCTCACTTCCCAGACGGGGTGGCTG CCGGGC	HUS1	ENSG00000136273.13	transcript	ENST00000258774.10	protein_coding		3668		chr7	TogoVar
HUS1_chr7_47958288_47984615	47959623	C C	CGGCAGCC others(33): Show CGGCAGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0091 a0001c0002t0002g0091	1	410	0.0024	40	c.57 others(51): Show c.5732_*5733insAGGCAGAGACGCTCCTCACTTCCCAGACGGGGTG GCTGCC	HUS1	ENSG00000136273.13	transcript	ENST00000258774.10	protein_coding		3664		chr7	TogoVar
HYDIN_chr16_70797084_71235722	70834972	G G	GTATATAT others(33): Show GTATATATACACACATATATGTATATATATACACACATATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0022 a0003c0022	a0003c0022t0005 a0003c0022t0005	a0003c0022t0005g0046 a0003c0022t0005g0046	1	174	0.0058	40	c.134 others(59): Show c.13401+703_13401+704insTATATGTGTGTATATATATACATATA TGTGTGTATATATA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	78/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70902794	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0008 a0003c0008t0008	a0003c0008t0008g0124 a0003c0008t0008g0124	1	174	0.0058	40	c.884 others(57): Show c.8849+830_8849+831insATATATATATATATATATATATATATAT ATATATATATAT	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85			chr16	TogoVar
IARS1_chr9_92205207_92298697	92227552	A A	AGGCGGAG others(33): Show AGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCTGCCG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0319 a0001c0001t0005g0319	1	338	0.0030	40	c.340 others(59): Show c.3409+1409_3409+1448dupCGGCAGCCGCCCCGTCTGAGAAGTGA GGAGCCCCTCCGCC	IARS1	ENSG00000196305.19	transcript	ENST00000443024.7	protein_coding	31/33			chr9	TogoVar
IBTK_chr6_82164987_82252744	82173674	A A	AATAAATA others(33): Show AATAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03710.hp2 NA18965.hp1 others(2): Show HG03516.hp1 HG03710.hp2 NA18965.hp1 NA18984.hp2 NA18991.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0002 a0002c0002t0002 a0001c0004t0002 a0002c0002t0002	a0001c0004t0002g0067 a0002c0002t0002g0071 a0002c0002t0002g0088 others(2): Show a0001c0004t0002g0067 a0002c0002t0002g0071 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0101	5	296	0.0169	40	c.372 others(57): Show c.3726-237_3726-236insATATATATATATATATATATATATATAT ATATATATTTAT	IBTK	ENSG00000005700.15	transcript	ENST00000306270.12	protein_coding	26/28			chr6	TogoVar
IBTK_chr6_82164987_82252744	82173674	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02630.hp1 HG02647.hp2 others(1): Show HG01358.hp2 HG02630.hp1 HG02647.hp2 HG03471.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0002 a0004c0005t0002 a0002c0002t0002 a0004c0005t0002	a0002c0002t0002g0046 a0002c0002t0002g0054 a0004c0005t0002g0163 others(1): Show a0002c0002t0002g0046 a0002c0002t0002g0054 a0004c0005t0002g0163 a0004c0005t0002g0165	4	296	0.0135	40	c.372 others(57): Show c.3726-237_3726-236insATATATATATATATATATATATATATAT ATATATATATAT	IBTK	ENSG00000005700.15	transcript	ENST00000306270.12	protein_coding	26/28			chr6	TogoVar
IBTK_chr6_82164987_82252744	82173684	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0069 a0002c0002t0002g0069	1	296	0.0034	40	c.372 others(57): Show c.3726-247_3726-246insGTGTATATATATATATATATATATATAT ATATATATATAT	IBTK	ENSG00000005700.15	transcript	ENST00000306270.12	protein_coding	26/28			chr6	TogoVar
ICA1L_chr2_202768176_202876766	202847694	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0224 a0001c0001t0079g0224	1	330	0.0030	40	c.-7- others(57): Show c.-7-18679_-7-18678insATATATATATATATATATATATATATAT ATATATATATAT	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12			chr2	TogoVar
ICA1L_chr2_202768176_202876766	202847695	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00738.hp1 HG01516.hp1 others(6): Show HG00438.hp1 HG00738.hp1 HG01516.hp1 HG01517.hp1 HG02451.hp2 HG02572.hp2 HG02717.hp1 HG03041.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0022 others(2): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0022 a0001c0001t0041 a0001c0001t0068	a0001c0001t0006g0272 a0001c0001t0006g0279 a0001c0001t0006g0280 others(5): Show a0001c0001t0006g0272 a0001c0001t0006g0279 a0001c0001t0006g0280 a0001c0001t0008g0001 a0001c0001t0008g0014 a0001c0001t0022g0291 a0001c0001t0041g0290 a0001c0001t0068g0011	9	330	0.0273	40	c.-7- others(57): Show c.-7-18680_-7-18679insTATATATATATATATATATATATATATA TATATATATATA	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12			chr2	TogoVar
ICA1L_chr2_202768176_202876766	202847703	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0120 a0001c0001t0005g0120	1	330	0.0030	40	c.-7- others(57): Show c.-7-18688_-7-18687insCATATATATATATATATATATATATATA TATATATATATA	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12			chr2	TogoVar
ICA1_chr7_8108184_8267167	8145764	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0043 a0001c0001t0001g0012 a0001c0001t0001g0043	2	274	0.0073	40	c.805 others(57): Show c.805-1793_805-1792insCATATATATATATATATATATATATATA TATATATATATA	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IDH2_chr15_90078045_90107468	90098539	T T	TATGTATG others(33): Show TATGTATGTATGCATGCATGTATGTATGTATGCATGCATGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0036 a0001c0009t0002g0036	1	440	0.0023	40	c.115 others(57): Show c.115+3736_115+3737insGCATGCATGCATACATACATACATGCAT GCATACATACAT	IDH2	ENSG00000182054.10	transcript	ENST00000330062.8	protein_coding	1/10			chr15	TogoVar
IDH2_chr15_90078045_90107468	90104915	T T	TTGAGCAA others(33): Show TTGAGCAAGTGTGGTAACCTCTACGAGCCAAATGGAGCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0110 a0001c0001t0003g0110	1	440	0.0023	40	c.-25 others(51): Show c.-2526_-2525insCCAGCTCCATTTGGCTCGTAGAGGTTACCACACT TGCTCA	IDH2	ENSG00000182054.10	transcript	ENST00000330062.8	protein_coding		2448		chr15	TogoVar
IDH2_chr15_90078045_90107468	90106074	C C	CTTTTATT others(33): Show CTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0086 a0001c0001t0011g0086	1	440	0.0023	40	c.-36 others(51): Show c.-3685_-3684insTAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAA	IDH2	ENSG00000182054.10	transcript	ENST00000330062.8	protein_coding		3607		chr15	TogoVar
IDI2_chr10_1013910_1030859	1016879	G G	GTAACTGT others(33): Show GTAACTGTGCTGGGCTTAAGAGAAAAGAGATGTAACAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0170 a0001c0003t0003g0170	1	434	0.0023	40	c.25 others(51): Show c.2598_*2637dupTCCCTGTTACATCTCTTTTCTCTTAAGCCCAGCA CAGTTA	IDI2	ENSG00000148377.6	transcript	ENST00000277517.2	protein_coding		2030		chr10	TogoVar
IDI2_chr10_1013910_1030859	1020227	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0059 a0001c0002t0002g0059	1	434	0.0023	40	c.367 others(55): Show c.367-394_367-393insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	IDI2	ENSG00000148377.6	transcript	ENST00000277517.2	protein_coding	4/4			chr10	TogoVar
IFFO2_chr1_18899280_18961676	18925956	T T	TTGGTTGG others(33): Show TTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG02965.hp2 others(3): Show HG02055.hp1 HG02258.hp2 HG02965.hp2 HG02976.hp2 HG03579.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 others(2): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0020 a0001c0006t0004	a0001c0001t0004g0049 a0001c0001t0004g0210 a0001c0001t0006g0048 others(3): Show a0001c0001t0004g0049 a0001c0001t0004g0210 a0001c0001t0006g0048 a0001c0001t0008g0053 a0001c0001t0020g0054 a0001c0006t0004g0209	6	376	0.0160	40	c.666 others(57): Show c.666-4875_666-4836dupTCCATCCATCCATCCATCCATCCATCCA TCCATCCAACCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925960	T T	TTGGATGG others(33): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02572.hp2 HG02818.hp1 others(5): Show HG01106.hp2 HG02572.hp2 HG02818.hp1 NA18947.hp2 NA18953.hp1 NA19011.hp2 NA19074.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015	a0001c0001t0002g0218 a0001c0001t0004g0069 a0001c0001t0011g0038 others(5): Show a0001c0001t0002g0218 a0001c0001t0004g0069 a0001c0001t0011g0038 a0001c0001t0011g0056 a0001c0001t0012g0063 a0001c0001t0012g0064 a0001c0001t0012g0071 a0001c0001t0015g0276	8	376	0.0213	40	c.666 others(57): Show c.666-4840_666-4839insTCCAACCATCCATCCATCCATCCATCCA TCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFITM10_chr11_1727406_1755595	1754525	G G	GGGGATGT others(33): Show GGGGATGTGGGGATGGAGGGATGGAGGGATGGAGGGATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	406	0.0025	40	c.-40 others(51): Show c.-4084_-4083insTCCATCCCTCCATCCCTCCATCCCTCCATCCCCA CATCCC	IFITM10	ENSG00000244242.2	transcript	ENST00000340134.5	protein_coding		3931		chr11	TogoVar
IFNA13_chr9_21362372_21373057	21366392	T T	TGTATATA others(33): Show TGTATATATATACATATATATACGTATATATATATATGTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02486.hp1 HG02280.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	466	0.0043	40	c.10 others(51): Show c.1045_*1046insGTACATATATATATATACGTATATATATGTATAT ATATAC	IFNA13	ENSG00000233816.4	transcript	ENST00000610660.2	protein_coding		979		chr9	TogoVar
IFNA6_chr9_21345318_21355887	21353389	T T	TTTTTTTT others(33): Show TTTTTTTTTTTAGTACTATCAAACACTGGAAAAGGAACCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	422	0.0024	40	c.-25 others(51): Show c.-2503_-2502insTAGGTTCCTTTTCCAGTGTTTGATAGTACTAAAA AAAAAA	IFNA6	ENSG00000120235.5	transcript	ENST00000380210.2	protein_coding		2503		chr9	TogoVar
IFNL2_chr19_39263396_39275188	39267335	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 NA19030.hp2 HG03453.hp2 NA19030.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	2	422	0.0047	40	c.-12 others(51): Show c.-1234_-1233insTCTCTCTCTCTATATATATATATATATATATATA TATATA	IFNL2	ENSG00000183709.8	transcript	ENST00000331982.6	protein_coding		1060		chr19	TogoVar
IFNL2_chr19_39263396_39275188	39267983	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG04204.hp1 HG02109.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0001 a0001c0001t0001g0007	2	422	0.0047	40	c.-58 others(49): Show c.-586_-585insATATATATATATATATATATATATATATATATATAT ATAT	IFNL2	ENSG00000183709.8	transcript	ENST00000331982.6	protein_coding		412		chr19	TogoVar
IFT80_chr3_160251986_160404225	160381239	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02976.hp1 HG01516.hp2 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0007 a0002c0002t0001g0074 a0001c0001t0001g0007 a0002c0002t0001g0074	2	212	0.0094	40	c.259 others(55): Show c.259+263_259+264insATATATATATATATATATATATATATATAT ATATATATAT	IFT80	ENSG00000068885.15	transcript	ENST00000326448.12	protein_coding	3/19			chr3	TogoVar
IFTAP_chr11_36589502_36664272	36661259	C C	CATACATA others(33): Show CATACATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01361.hp2 HG02572.hp2 others(8): Show HG00597.hp1 HG01361.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02965.hp1 HG03225.hp2 NA18945.hp2 NA18951.hp2 NA18961.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0037 a0001c0001t0001g0040 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0242 a0001c0001t0001g0259	11	358	0.0307	40	c.20 others(51): Show c.2073_*2074insATACATATATATATATATATATATATATATATAT ATATAT	IFTAP	ENSG00000166352.18	transcript	ENST00000334307.10	protein_coding		1988		chr11	TogoVar

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