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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC7A1_chr13_29504414_29600688	29558351	G G	GGGGGAGA others(196): Show GGGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGA ATGTGAGTGAGGGGGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAGTG AGGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATCTGAATGAGGGGGGAG TGAATGTGAGTGAGGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGA GTGA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0036 a0001c0001t0013g0036	1	330	0.0030	203	c.-11 others(222): Show c.-114-4492_-114-4491insTCACTCACATTCACTCCCCCTCACTC ACATTCACTCCCCCCTCACTCACATTCACTCCCCCCTCATTCAGATTCAC TCCCCCTCACTCACATTCACTCCCCCCTCACTCACATTCACTCCCCCCTC ATTCAGATTCACTCCCCCTCACTCACATTCACTCCCCCTCACTCACATTC ACTCCCCCTCACTCACATTCTCTCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC9A8_chr20_49807828_49897242	49834339	A A	ATATATAC others(196): Show ATATATACAGGATATATATATACACAGTATATATATATACAGTATATATA TATACACAGTATATATATATACAGTATATATATATACACAGTATATATAT ATATATACACACTGTATATATAGTGTGTGTATATACATATACTGTGTGTA TATATAGTGCATATAGTGCGTATATACAGTGTGTGTATATACATAGTGTG TGTG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0331 a0001c0002t0001g0331	1	360	0.0028	203	c.290 others(220): Show c.290-5196_290-5195insCAGGATATATATATACACAGTATATATA TATACAGTATATATATATACACAGTATATATATATACAGTATATATATAT ACACAGTATATATATATATATACACACTGTATATATAGTGTGTGTATATA CATATACTGTGTGTATATATAGTGCATATAGTGCGTATATACAGTGTGTG TATATACATAGTGTGTGTGTATATA	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLCO3A1_chr15_91848708_92170903	92047314	C C	CAAATATA others(196): Show CAAATATATAATATATAAATATATATAATATATAAATATATATAAATATA TATATAAATATATATAAATATATAAATATATATAAATATATAAATAAATA TATAAATATATATAATATATAAATATATATAATATATAAATATATATAAA TATATATAATATATAAATATATATATATAATATATAAATATATATATAAT ATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18522.hp2 HG01884.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0010 a0002c0005t0049 a0001c0001t0010 a0002c0005t0049	a0001c0001t0010g0019 a0002c0005t0049g0161 a0001c0001t0010g0019 a0002c0005t0049g0161	2	190	0.0105	203	c.647 others(222): Show c.647-47558_647-47557insATATATAAATATATATAATATATAAA TATATATAAATATATATATAAATATATATAAATATATAAATATATATAAA TATATAAATAAATATATAAATATATATAATATATAAATATATATAATATA TAAATATATATAAATATATATAATATATAAATATATATATATAATATATA AATATATATATAATATATAAATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMIM36_chr17_55444856_55516452	55500977	A A	ATTTTATA others(196): Show ATTTTATATTATAATATATAATATACATTATATTTTATGATATATAATAT ACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAAT ATACATTATATTTTATGATATATAATATACATTATATTTTATGATATATA ATATACATTATATTTTATGATATATAATATACATTATATTTTATGATATA TAAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0337 a0002c0002t0002g0337	1	340	0.0029	203	c.17 others(222): Show c.174+9901_*174+9902insATTATATATCATAAAATATAATGTAT ATTATATATCATAAAATATAATGTATATTATATATCATAAAATATAATGT ATATTATATATCATAAAATATAATGTATATTATATATCATAAAATATAAT GTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATATA ATGTATATTATATATTATAATATAAAA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SNTG2_chr2_945849_1372613	1093921	G G	GAAGGCCT others(196): Show GAAGGCCTTATAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGGGCCG GCTTCCTGGACTGCAGGCGAAGGCCTTATAGGGTGTCCTCATATGGTAGA GTTACTGGCAAGGGCTGGCTTCCTGGACTGCAGGCGAAGGCCTTATAGGT GTGTCCTCATATGGTAGAGTTACTGGCAAGGGCCAGCTTCCTGGCCTGCA GGCA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0001 a0002c0033t0001	a0002c0033t0001g0119 a0002c0033t0001g0119	1	190	0.0053	203	c.211 others(220): Show c.211-4228_211-4227insCGGCTTCCTGGACTGCAGGCGAAGGCCT TATAGGGTGTCCTCATATGGTAGAGTTACTGGCAAGGGCTGGCTTCCTGG ACTGCAGGCGAAGGCCTTATAGGTGTGTCCTCATATGGTAGAGTTACTGG CAAGGGCCAGCTTCCTGGCCTGCAGGCAAAGGCCTTATAGGTGTGTCCTC ATATGGTAGAGTTACTGGCAAGGGC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX12_chrX_71054247_71073334	71071574	A A	ATATATAT others(196): Show ATATATATAATATATAATATTTATATATTATATATATAAATATATAATAT TTATATATTATATATATAAATATATAATATTTATATATTATATATATAAA TATATAATATTTATATATTATATATAAATATATAATATTTATATATTATA TATATAAATATATAATATTTATATATATTATATATATATAATATTTATAT ATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	309	0.0032	203	c.-32 others(214): Show c.-3269_-3268insATATATATAAATATTATATATATATAATATATAT AAATATTATATATTTATATATATAATATATAAATATTATATATTTATATA TAATATATAAATATTATATATTTATATATATAATATATAAATATTATATA TTTATATATATAATATATAAATATTATATATTTATATATATAATATATAA ATATTATATATTATATATA	SNX12	ENSG00000147164.12	transcript	ENST00000374274.8	protein_coding		3241		chrX	TogoVar
SORCS3_chr10_104636290_105270242	104696219	C C	CATATAAT others(196): Show CATATAATATATAATATATATCATATACACATATATAATATATATCATAT ACACATATAATATATGATATATATCATATACACATATGATATATGATATA TATCATATACACATATGATATATGATATATATCATATACACATATGATAT ATGATATATATCATATACACATATGATATATGATATATATCATATACACA TATG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0050	1	134	0.0075	203	c.627 others(222): Show c.627+54270_627+54271insATATATAATATATATCATATACACAT ATATAATATATATCATATACACATATAATATATGATATATATCATATACA CATATGATATATGATATATATCATATACACATATGATATATGATATATAT CATATACACATATGATATATGATATATATCATATACACATATGATATATG ATATATATCATATACACATATGATATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104696219	C C	CATATAAT others(196): Show CATATAATATATAATATATATCATATACACATATATGATATATATCATAT ACACATATGATATATGATATATATCATATACACATATGATATATGATATA TATCATATACACATATGATATATGATATATATCATATACACATATGATAT ATGATATATATCATATACACATATGATATATGATATATATCATATACACA TATG	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	134	0.0075	203	c.627 others(222): Show c.627+54270_627+54271insATATATAATATATATCATATACACAT ATATGATATATATCATATACACATATGATATATGATATATATCATATACA CATATGATATATGATATATATCATATACACATATGATATATGATATATAT CATATACACATATGATATATGATATATATCATATACACATATGATATATG ATATATATCATATACACATATGATATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(196): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCC CCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCT CTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 NA18956.hp1 HG02602.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	2	418	0.0048	203	c.54 others(214): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGG AAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(196): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCC CCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCT CTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	418	0.0024	203	c.54 others(214): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(196): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCC CCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCT CTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	418	0.0024	203	c.54 others(214): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGGAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(196): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCC CCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCT CTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	418	0.0024	203	c.54 others(214): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(196): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCC CCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCT CTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	418	0.0024	203	c.54 others(214): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(196): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCC CCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCT CTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 NA19009.hp1 NA19089.hp2 HG03942.hp1 NA19009.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0001g0003 a0001c0001t0002g0002	3	418	0.0072	203	c.54 others(214): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(196): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCC CCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCT CTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	418	0.0024	203	c.54 others(214): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(196): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCC CCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCT CTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0061 a0001c0009t0003g0061	1	418	0.0024	203	c.54 others(214): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(196): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCC CCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCT CTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	418	0.0024	203	c.54 others(214): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(196): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGG GGAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	260	0.0039	203	c.138 others(222): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTTCC CTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCK1_chr5_136970298_137504326	137160616	T T	TATATTAT others(196): Show TATATTATATATAATATATAATATATTATATATAATATATAATATATTAT ATATAATATATAATATATAATATATTATATATAATATATAATATATTATA TATAATATATTATATATAATATATAATATATTATATATAATATATTATAT ATTATATATAATATATAATATATTATATATAATATATAATATATATTTTA TATA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	152	0.0066	203	c.233 others(222): Show c.233-19923_233-19922insTATATAAAATATATATTATATATTAT ATATAATATATTATATATTATATATAATATATAATATATTATATATAATA TATTATATATTATATATAATATATTATATATAATATATTATATATTATAT ATAATATATTATATATTATATATTATATATAATATATTATATATTATATA TAATATATTATATATTATATATAATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	3/10			chr5	TogoVar
STARD7_chr2_96179859_96213827	96197066	C C	CAAAATAA others(196): Show CAAAATAACATAACATAACATAACATAACATAACATAACATAACATAACA TAACATAACATAACATAACATAAAATAAAATAAAATATAAAATAAAATAA AATAAAATATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATATAAAATAAAATAAAATAAAATAAA ATAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0028 a0002c0002t0028	a0002c0002t0028g0237 a0002c0002t0028g0237	1	358	0.0028	203	c.291 others(220): Show c.291-1518_291-1517insATATTTTATTTTATTTTATTTTATTTTA TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATATTTTATTTTATTTTATTTTATATTTTATTTT ATTTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATTTT	STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	1/7			chr2	TogoVar
STMN3_chr20_63634712_63658424	63642015	C C	CCCCCGCC others(196): Show CCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCCGGCCCCGCCCCG GCCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCCGCCCAGTGCCC CGCCCCCTGACTGCTGCTAGCCCTGCCCCCGCCCCGGCCCCTGCCCGCTC CGAGCTCCGCCCCGGCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCC CCGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp2 others(99): Show HG00099.hp1 HG00099.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00738.hp2 HG01081.hp1 HG01243.hp2 HG01261.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01981.hp1 HG01993.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02523.hp2 HG02698.hp1 HG02698.hp2 HG03017.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18962.hp2 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18986.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp2 NA19070.hp1 NA19072.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0027 a0001c0001t0028 a0001c0001t0038 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0058 a0001c0001t0060 a0001c0001t0063 a0001c0001t0067 a0001c0001t0069 a0001c0001t0070 a0001c0001t0073	a0001c0001t0001g0100 a0001c0001t0002g0001 a0001c0001t0002g0013 others(66): Show a0001c0001t0001g0100 a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0002g0031 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0063 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0147 a0001c0001t0002g0268 a0001c0001t0004g0003 a0001c0001t0004g0012 a0001c0001t0004g0028 a0001c0001t0004g0030 a0001c0001t0004g0090 a0001c0001t0004g0112 a0001c0001t0004g0138 a0001c0001t0004g0141 a0001c0001t0004g0261 a0001c0001t0007g0008 a0001c0001t0007g0091 a0001c0001t0007g0110 a0001c0001t0007g0113 a0001c0001t0007g0130 a0001c0001t0007g0146 a0001c0001t0008g0102 a0001c0001t0010g0005 a0001c0001t0010g0079 a0001c0001t0010g0082 a0001c0001t0010g0131 a0001c0001t0010g0289 a0001c0001t0015g0142 a0001c0001t0017g0103 a0001c0001t0020g0101 a0001c0001t0020g0140 a0001c0001t0021g0095 a0001c0001t0021g0229 a0001c0001t0027g0083 a0001c0001t0027g0096 a0001c0001t0028g0097 a0001c0001t0028g0260 a0001c0001t0038g0104 a0001c0001t0045g0098 a0001c0001t0047g0099 a0001c0001t0048g0076 a0001c0001t0058g0128 a0001c0001t0060g0092 a0001c0001t0063g0066 a0001c0001t0067g0077 a0001c0001t0069g0088 a0001c0001t0070g0080 a0001c0001t0073g0105	102	388	0.2629	203	c.483 others(216): Show c.483+92_483+93insCCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGG GGCGGGGCCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGGCAG GGCTAGCAGCAGTCAGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGC GGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGCCGGGGCGGAGCTCGGAG CGGGCAGGGGCCGGGGCGGGG	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	4/4			chr20	TogoVar
STMN3_chr20_63634712_63658424	63642039	C C	CCGAGCTC others(196): Show CCGAGCTCCGCCCCGGCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGC CCTGGCCCCGCCCCGCCCAGTGCCCCCGCCCCCTGACTGCTGCTAGCCCT GCCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCCGGCCCCGCCCC GGCCCCTGCCCGCTCCGAGCTCCGCCCCGGCCCCCGCCCCGGCCCCTGCC CGCT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0133 a0001c0001t0004g0133	1	388	0.0026	203	c.483 others(216): Show c.483+68_483+69insAGCGGGCAGGGGCCGGGGCGGGGGCCGGGGCG GAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGCCGGGGCGGAGCTCGGAGC GGGCAGGGGCCGGGGCGGGGGCAGGGCTAGCAGCAGTCAGGGGGCGGGGG CACTGGGCGGGGCGGGGCCAGGGCGGAGCTCGGAGCGGGCAGGGGCCGGG GCGGGGCCGGGGCGGAGCTCG	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	4/4			chr20	TogoVar
STX8_chr17_9245471_9580820	9429837	A A	ATATATAA others(196): Show ATATATAATATATTATATATAATATATTATATATAATATATTATATATAT TATATATAATATATATTATATATTATATATAATATATTATATATAATATA TATAATATATATTATATATATTATATATTATATATAATATATTATATATT ATATATATTATATATTATATAGAATATATTATATATTATATATATAATAT ATTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0034	1	188	0.0053	203	c.542 others(222): Show c.542-51185_542-51184insGAATATATTATATATATAATATATAA TATATTCTATATAATATATAATATATATAATATATAATATATTATATATA ATATATAATATATATAATATATATTATATATATTATATATAATATATTAT ATATAATATATAATATATATTATATATAATATATATAATATATTATATAT AATATATTATATATAATATATTATATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
SYK_chr9_90796819_90903549	90884784	T T	TATGTATA others(196): Show TATGTATACACATATACACACATATGTGTGTATACACATATATACATATA TACATATATACACATATGTGTACATATGTGTATATATACATATATATACA CATATATATGTATATATACACATATGTGAATATGTATATATGTGTTATAT ATACACATATGTGTATATGTATATATACATATATACACATATGTGTATAT ATAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01168.hp1 HG01255.hp1 others(7): Show HG00738.hp1 HG01168.hp1 HG01255.hp1 HG01433.hp2 HG01516.hp1 HG02451.hp2 HG03098.hp1 HG03492.hp1 HG03710.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0009 a0001c0001t0031 others(4): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0031 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0058	a0001c0001t0003g0020 a0001c0001t0003g0137 a0001c0001t0009g0229 others(7): Show a0001c0001t0003g0020 a0001c0001t0003g0137 a0001c0001t0009g0229 a0001c0001t0031g0097 a0001c0004t0002g0245 a0001c0004t0003g0038 a0001c0004t0003g0048 a0001c0004t0003g0358 a0001c0004t0004g0352 a0001c0004t0058g0134	10	376	0.0266	203	c.158 others(222): Show c.1582-2964_1582-2963insTGTATACACATATACACACATATGTG TGTATACACATATATACATATATACATATATACACATATGTGTACATATG TGTATATATACATATATATACACATATATATGTATATATACACATATGTG AATATGTATATATGTGTTATATATACACATATGTGTATATGTATATATAC ATATATACACATATGTGTATATATACA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884833	G G	GTATGCAC others(196): Show GTATGCACATATACACATATGTGTGTATGCACATATACACATATGTGTGT ATGCACATATACACATATGTGTGTATGCACATATATACATATATACACAT ATGTGTACATATGTGTATATATACATATATATACACATATATATGTATAT ATACACATATGTGAATATGTATATATGTGTTATATATACATATGTGTATA TGTA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0081 a0001c0001t0006g0081	1	376	0.0027	203	c.158 others(222): Show c.1582-2913_1582-2912insGCACATATACACATATGTGTGTATGC ACATATACACATATGTGTGTATGCACATATACACATATGTGTGTATGCAC ATATATACATATATACACATATGTGTACATATGTGTATATATACATATAT ATACACATATATATGTATATATACACATATGTGAATATGTATATATGTGT TATATATACATATGTGTATATGTATAT	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TAFA5_chr22_48484553_48756932	48729232	T T	TATTTTAT others(196): Show TATTTTATATTTATTTATAAATATATAATAATTTTATATTTATTTATAAA TATATAATAATTTTATATTTATTTATAAATATATAATAATTTTATATTTA TTTATAAATATATAATAATTTTATATTTATTTATAAATATATAATAATTT TATATTTATTTATAAATATATAATAATTTTATATTTATTTATAAATATAT AATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	258	0.0039	203	c.391 others(222): Show c.391-20520_391-20519insATTTTATATTTATTTATAAATATATA ATAATTTTATATTTATTTATAAATATATAATAATTTTATATTTATTTATA AATATATAATAATTTTATATTTATTTATAAATATATAATAATTTTATATT TATTTATAAATATATAATAATTTTATATTTATTTATAAATATATAATAAT TTTATATTTATTTATAAATATATAATA	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TANC2_chr17_62961235_63432703	62996974	T T	TGGCTAAT others(196): Show TGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCAC GCCC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01928.hp1 HG01978.hp1 others(2): Show HG01070.hp2 HG01928.hp1 HG01978.hp1 HG02004.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 others(2): Show a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059	5	266	0.0188	203	c.-23 others(222): Show c.-23-12543_-23-12542insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTAC CACGCCCGGCTAATTTTTTGTATTTTT	TANC2	ENSG00000170921.16	transcript	ENST00000689528.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
TCF25_chr16_89868592_89916379	89907669	C C	CCTCCCAG others(196): Show CCTCCCAGCTCCCACCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCCTC CTCCCTCCTCCCAGCTCCCGGCTCCCACCTCCCAGTTTCCACCTCCCAGC TCCCACCTCCCTCCTCCCTCCTCCCAGCTCCCGGCTCCCACCTCCCAGTT TCCACCTCCCAGCTCCAACCTCCCTCCTCCCTCCTTCCAGTTCCCACCTC CCAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG00609.hp1 others(27): Show HG00323.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG01175.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02165.hp2 HG03491.hp2 HG03492.hp1 NA18612.hp1 NA18940.hp2 NA18943.hp1 NA18947.hp1 NA18952.hp2 NA18955.hp2 NA18960.hp1 NA18984.hp2 NA18990.hp2 NA19003.hp1 NA19070.hp2 NA19074.hp2 NA19087.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0003c0014 a0005c0007 a0001c0002 a0003c0014 a0005c0007	a0001c0002t0001 a0001c0002t0005 a0003c0014t0001 others(1): Show a0001c0002t0001 a0001c0002t0005 a0003c0014t0001 a0005c0007t0001	a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 others(27): Show a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0005g0027 a0003c0014t0001g0026 a0005c0007t0001g0047	30	300	0.1000	203	c.179 others(220): Show c.1799+353_1799+354insGCTCCCACCTCCCAGTTCCCACCTCCCA GCTCCCACCTCCCTCCTCCCTCCTCCCAGCTCCCGGCTCCCACCTCCCAG TTTCCACCTCCCAGCTCCCACCTCCCTCCTCCCTCCTCCCAGCTCCCGGC TCCCACCTCCCAGTTTCCACCTCCCAGCTCCAACCTCCCTCCTCCCTCCT TCCAGTTCCCACCTCCCAGCTCCCA	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF3_chr19_1604292_1657615	1628016	G G	GGGGGTGA others(196): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGAGGCGGGA AGGGGACAGCAGAACTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAAC TCAC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0027 a0001c0005t0004g0027	1	352	0.0028	203	c.299 others(218): Show c.299-591_299-590insGTGAGTTCTGCTGTCCCCTTCCCGCCTCAC CCCCTGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCGTGAGCTCTGC TGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTG CTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628218	A A	ACGGGGGT others(196): Show ACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGGGGCGG GAAGGGGACAGCAGAGCTCACAGGGGGTGGGGCGGGAAGGGGACAGCAGA GCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGG CGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAG AACT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0015 a0002c0001t0015	a0002c0001t0015g0080 a0002c0001t0015g0080	1	352	0.0028	203	c.299 others(218): Show c.299-793_299-792insAGTTCTGCTGTCCCCTTCCCGCCTCACCCC GTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCC CCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCC CCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCTGTGAGCTCTGCT GTCCCCTTCCCGCCTCACCCCCG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628221	G G	GGGGATGA others(196): Show GGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAAC TCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCAC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0020 a0020	a0020c0034 a0020c0034	a0020c0034t0010 a0020c0034t0010	a0020c0034t0010g0146 a0020c0034t0010g0146	1	352	0.0028	203	c.299 others(218): Show c.299-796_299-795insGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGT CCCCTTCCCGCCTCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCAT CCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTG CTGTCCCCTTCCCGCCTCATCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628402	G G	GGGAAGGG others(196): Show GGGAAGGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAGA GCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAG GCGGGAAAGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACACCA GAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGG GGCA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0232 a0001c0007t0001g0232	1	352	0.0028	203	c.299 others(218): Show c.299-977_299-976insTGCCCCACCCCCGTGAGCTCTGCTGTCCCC TTCCCGCCTCACCCCCGTGAGCTCTGGTGTCCCCTTCCCACCTCACCCCG TGAGTTCTGCTGTCCCTTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCC CCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCC CGTGAGTTCTGCTGTCCCCTTCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628530	G G	GGGGGTGA others(196): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAG GGGACACCAGAGCTCACAGGGGGTGATGCGGGAAGGGGACAGCAGAGCTC ACGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGG GAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAAC TCAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0079 a0004c0014t0079	a0004c0014t0079g0305 a0004c0014t0079g0305	1	352	0.0028	203	c.299 others(220): Show c.299-1105_299-1104insGTGAGTTCTGCTGTCCCCTTCCCGCCTC ACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTG CTGTCCCCTTCCCGCCTCATCCCCGTGAGCTCTGCTGTCCCCTTCCCGCA TCACCCCCTGTGAGCTCTGGTGTCCCCTTCCCGCCTCACCCCGTGAGTTC TGCTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628540	C C	CGGGAAGG others(196): Show CGGGAAGGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAG AGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGG TGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGTGGGAAGCGGACAGCA GAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCATGGGGATG GGGA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01975.hp2 HG02738.hp2 HG01257.hp2 HG01975.hp2 HG02738.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0011 a0001c0004t0081 a0001c0004t0003 a0001c0004t0011 a0001c0004t0081	a0001c0004t0003g0153 a0001c0004t0011g0136 a0001c0004t0081g0302 a0001c0004t0003g0153 a0001c0004t0011g0136 a0001c0004t0081g0302	3	352	0.0085	203	c.299 others(220): Show c.299-1115_299-1114insTCCCCATCCCCATGAGCTCTGCTGTCCC CTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCGCTTCCCACCTCACCC CCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTC CCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACC CCGTGAGTTCTGCTGTCCCCTTCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628805	C C	CGGGGGTG others(196): Show CGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACAG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0143 a0001c0002t0002g0143	1	352	0.0028	203	c.299 others(220): Show c.299-1380_299-1379insCTGTGAGCTCTGCTGTCCCCTTCCCGCC TCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTC TGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628805	C C	CGGGGGTG others(196): Show CGGGGGTGGGGCAGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGG AAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGA AGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0249 a0001c0004t0003g0249	1	352	0.0028	203	c.299 others(220): Show c.299-1380_299-1379insCTGTGAGCTCTGCTGTCCCCTTCCCGCC TCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTG CTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCT GCTGTCCCCTTCCTGCCCCACCCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629129	C C	CAGAGCTC others(196): Show CAGAGCTCACAGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCATGGGGAT GGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGAC AGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGGG GGTGGAGCGGGAAGGGGACAGCAGAGCTCACGGGTGGGGCGGGAAGGGGA CAGA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0076 a0001c0003t0076	a0001c0003t0076g0045 a0001c0003t0076g0045	1	352	0.0028	203	c.299 others(220): Show c.299-1704_299-1703insTCTGTCCCCTTCCCGCCCCACCCGTGAG CTCTGCTGTCCCCTTCCCGCTCCACCCCCTGTGAGCTCTGCTGTCCCCTT CCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGT GAGCTCTGCTGTCCCCTTCCCGCCCCATCCCCATGAGCTCTGCTGTCCCC TTCCCGCCCCACCCCTGTGAGCTCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TENT5A_chr6_81740730_81757681	81740752	T T	TATATAAT others(196): Show TATATAATATGTATCATATAGTATATAATATGTATCATATTATATAGTAT ATAATATGTATCATATTATATAGTATATAATATGTATCATATTATATACG ATATAATATGTATCATATTATATACGATATAATATGTATCATATTATATA CGATATAATATGTATCATATTATATACGATATAATATGTATCATATTATA TACG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0062 a0001c0001t0031g0062	1	446	0.0022	203	c.89 others(214): Show c.8942_*8943insCGTATATAATATGATACATATTATATCGTATATA ATATGATACATATTATATCGTATATAATATGATACATATTATATCGTATA TAATATGATACATATTATATCGTATATAATATGATACATATTATATACTA TATAATATGATACATATTATATACTATATAATATGATACATATTATATAC TATATGATACATATTATAT	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4977		chr6	TogoVar
TENT5A_chr6_81740730_81757681	81740909	A A	ATATAATA others(196): Show ATATAATATGTATCATATTATATACTATATAATATGTATCATATTATATA CTATATAATATGTATCATATTATATACTATATAATATGTATCATATTATA TACTATATATGTATCATATTATATACTATATAATATGATACATATTATAT AGTATATAATATGTATCATATTATATACTATATAATGTGTATCATATTAT ATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0016 a0003c0003t0008g0016	1	446	0.0022	203	c.87 others(214): Show c.8785_*8786insCTATATAATATGATACACATTATATAGTATATAA TATGATACATATTATATACTATATAATATGTATCATATTATATAGTATAT AATATGATACATATATAGTATATAATATGATACATATTATATAGTATATA ATATGATACATATTATATAGTATATAATATGATACATATTATATAGTATA TAATATGATACATATTATA	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4820		chr6	TogoVar
TERT_chr5_1248167_1300068	1272940	C C	CACGACCG others(196): Show CACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATC AGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCC ATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCA CACA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	392	0.0026	203	c.228 others(220): Show c.2287-661_2287-660insTGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGGTGACTGTGGATGGCGGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TMEM120A_chr7_75981831_75999595	75988623	C C	CGGGGTGG others(196): Show CGGGGTGGGGGGTGGAGGGGAAGGCCAGGTGGGGTGGGGGGTGGAGGGGA AGGCCAGGTGGGGTGGGGGGTGGAGGGGAAGGCCAGGTGGGGTGGGGGGT GGAGGGGAAGGCCAGGTGGGGTGGGGGGTGGAGGGGAAGGCCAGGTGGGG TGGGGGGTGGAGGGGAAGGCCAGGTGGGGTGGGGGGTGGAGGGGAAGGCC AGGT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	368	0.0027	203	c.378 others(218): Show c.378-108_378-107insACCTGGCCTTCCCCTCCACCCCCCACCCCA CCTGGCCTTCCCCTCCACCCCCCACCCCACCTGGCCTTCCCCTCCACCCC CCACCCCACCTGGCCTTCCCCTCCACCCCCCACCCCACCTGGCCTTCCCC TCCACCCCCCACCCCACCTGGCCTTCCCCTCCACCCCCCACCCCACCTGG CCTTCCCCTCCACCCCCCACCCC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM120A_chr7_75981831_75999595	75988765	A A	AGAAGGCC others(196): Show AGAAGGCCGGGTAGGGGGGTGGAGGAGAAGGCCGGGTGGGGGGGTGGAGG GGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGG GGAAGGCCGGGTGGGGGGCTGGAGGGGAAGGCCAGGTGGGGGGGTGGAGG GGAAGAAGGCCGGGTGGGGGGGTGGAGGAGAAGGCCGGGTGGGGGGGTGG AGGG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	368	0.0027	203	c.378 others(218): Show c.378-250_378-249insCCCTCCACCCCCCCACCCGGCCTTCTCCTC CACCCCCCCACCCGGCCTTCTTCCCCTCCACCCCCCCACCTGGCCTTCCC CTCCAGCCCCCCACCCGGCCTTCCCCTCCACCCCCCCACCCGGCCTTCCC CTCCACCCCCCCACCCGGCCTTCCCCTCCACCCCCCCACCCGGCCTTCTC CTCCACCCCCCTACCCGGCCTTC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM50B_chr21_33444141_33484974	33459503	T T	TAAAAATA others(196): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	379	0.0026	203	c.373 others(218): Show c.373+909_373+910insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACG CCCGGCTAATTTTTTGTATTTTT	TMEM50B	ENSG00000142188.17	transcript	ENST00000542230.7	protein_coding	5/6			chr21	TogoVar
TPO_chr2_1408463_1548673	1480810	C C	CGTCCACA others(196): Show CGTCCACACCACCTCCCTCCTCCTTCATCCGTCCAAACCATGTTTCTCCT GCTGCATCCGTCCACACCACCTCCCTCCTCCTGCATCCGTCCACACCACC TCCCTCCTCCTGCATCCGTCCACACCACCTTCCTCCTGCTGCATCCGTCC ACACCACGTCCCTGCTGCTGCGTCTGTCCTCACCACGTCCCTGCTGCTGC GTCT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00733.hp1 HG02132.hp1 others(1): Show HG00558.hp2 HG00733.hp1 HG02132.hp1 HG02602.hp1	a0004 a0010 a0015 others(1): Show a0004 a0010 a0015 a0016	a0004c0005 a0010c0010 a0015c0031 others(1): Show a0004c0005 a0010c0010 a0015c0031 a0016c0029	a0004c0005t0002 a0010c0010t0007 a0015c0031t0001 others(1): Show a0004c0005t0002 a0010c0010t0007 a0015c0031t0001 a0016c0029t0001	a0004c0005t0002g0083 a0010c0010t0007g0081 a0015c0031t0001g0105 others(1): Show a0004c0005t0002g0083 a0010c0010t0007g0081 a0015c0031t0001g0105 a0016c0029t0001g0099	4	130	0.0308	203	c.133 others(222): Show c.1338+3217_1338+3218insCTCCCTCCTCCTTCATCCGTCCAAAC CATGTTTCTCCTGCTGCATCCGTCCACACCACCTCCCTCCTCCTGCATCC GTCCACACCACCTCCCTCCTCCTGCATCCGTCCACACCACCTTCCTCCTG CTGCATCCGTCCACACCACGTCCCTGCTGCTGCGTCTGTCCTCACCACGT CCCTGCTGCTGCGTCTGTCCACACCAC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAF3IP1_chr2_238315518_238405897	238398194	G G	GCCCTGCA others(196): Show GCCCTGCAGCAGGAGCAGAGGCGGGGGGTAGCAGGGGGGTAGTAATGGGG AGGGGGCCCTGCAGCAGGAGGAGAGGTGGGGGGTAGTAATGGGGGGGTGC CCTGCAGCAGGAGCAGAGTTGGGGGGTAGCAGGAGGGTAATGGGGAGGGT GCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGCAGGAGGGTAATGGGGAGG GGGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00558.hp2 others(97): Show HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00621.hp2 HG00733.hp1 HG01074.hp1 HG01081.hp1 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02129.hp2 HG02165.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03490.hp1 HG03491.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp2 NA18747.hp2 NA18942.hp2 NA18944.hp1 NA18946.hp2 NA18948.hp1 NA18951.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18990.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp2 NA19002.hp1 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp2 NA19056.hp2 NA19062.hp2 NA19063.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19084.hp2 NA19088.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0001c0003 a0001c0015 others(5): Show a0001c0001 a0001c0003 a0001c0015 a0001c0016 a0001c0017 a0006c0007 a0006c0013 a0007c0009	a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 others(9): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0003t0001 a0001c0015t0001 a0001c0016t0001 a0001c0017t0001 a0006c0007t0001 a0006c0013t0001 a0007c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(94): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0141 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0318 a0001c0001t0009g0221 a0001c0001t0009g0222 a0001c0001t0009g0240 a0001c0001t0011g0006 a0001c0001t0011g0307 a0001c0001t0011g0308 a0001c0001t0013g0297 a0001c0001t0013g0311 a0001c0001t0017g0212 a0001c0003t0001g0225 a0001c0015t0001g0228 a0001c0016t0001g0296 a0001c0017t0001g0214 a0006c0007t0001g0303 a0006c0007t0001g0304 a0006c0007t0001g0315 a0006c0007t0001g0316 a0006c0007t0001g0317 a0006c0007t0001g0319 a0006c0013t0001g0217 a0007c0009t0001g0267	100	338	0.2959	203	c.191 others(220): Show c.1910+517_1910+518insCTGCAGCAGGAGCAGAGGCGGGGGGTAG CAGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGGAGAGGTGGGG GGTAGTAATGGGGGGGTGCCCTGCAGCAGGAGCAGAGTTGGGGGGTAGCA GGAGGGTAATGGGGAGGGTGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAG CAGGAGGGTAATGGGGAGGGGGCCC	TRAF3IP1	ENSG00000204104.12	transcript	ENST00000373327.5	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAF3IP1_chr2_238315518_238405897	238398194	G G	GCGCTGCA others(196): Show GCGCTGCAGCAGGAGCAGAGGCGGGGGGTAGCAGGGGGGTAGTAATGGGG AGGGGGCCCTGCAGCAGGAGGAGAGGTGGGGGGTAGTAATGGGGGGGTGC CCTGCAGCAGGAGCAGAGTTGGGGGGTAGCAGGAGGGTAATGGGGAGGGT GCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGCAGGAGGGTAATGGGGAGG GGGC	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	338	0.0030	203	c.191 others(220): Show c.1910+516_1910+517insGCTGCAGCAGGAGCAGAGGCGGGGGGTA GCAGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGGAGAGGTGGG GGGTAGTAATGGGGGGGTGCCCTGCAGCAGGAGCAGAGTTGGGGGGTAGC AGGAGGGTAATGGGGAGGGTGCCCTGCAGCAGGAGCAGAGGTGGGGGGTA GCAGGAGGGTAATGGGGAGGGGGCC	TRAF3IP1	ENSG00000204104.12	transcript	ENST00000373327.5	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAPPC12_chr2_3374694_3484565	3438060	A A	ATCACCCC others(196): Show ATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACCCCATCAC CCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTG GATTAATCCCCCAATCACCCCTGGATTAATCCCCCAATCACCCCTGGATT AATCCCCCAATCACCCCTGGATTAATCCCCCCATCAGCCCTGGATTAATA CCCC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0003 a0002c0009t0003	a0002c0009t0003g0037 a0002c0009t0003g0037	1	344	0.0029	203	c.141 others(222): Show c.1418-5719_1418-5718insTCACCCCTGGATTAATCCCCCCATCA CCCCAGGATTAATACCCCATCACCCCAGGATTAATACCCCATCACCCCTG GATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATT AATCCCCCAATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATC CCCCCATCAGCCCTGGATTAATACCCC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11			chr2	TogoVar
TSNARE1_chr8_142207080_142408182	142282460	A A	AAGGGGAG others(196): Show AAGGGGAGGCCACTGTCTGTCAAAGAGCAAAGGCGGGGTCAGTGTCTGCC AACGAGCAGAGGTGGGGTCAGTGTCTGCCAATGAGCAGAGACGGGACCAG TGTCTGTCAATGAGCAGAGGTGGGGCCAGTGTCTATCAATGAGCGGAGGT GGGGCCACTGTCTGTCAATGAGCAGAGGCGGGGCCAGTGTCTGTCAATGA GCAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp2 HG02896.hp1 HG02622.hp1 HG02622.hp2 HG02896.hp1	a0005 a0006 a0005 a0006	a0005c0005 a0006c0006 a0005c0005 a0006c0006	a0005c0005t0001 a0006c0006t0001 a0006c0006t0002 a0005c0005t0001 a0006c0006t0001 a0006c0006t0002	a0005c0005t0001g0150 a0006c0006t0001g0236 a0006c0006t0002g0237 a0005c0005t0001g0150 a0006c0006t0001g0236 a0006c0006t0002g0237	3	238	0.0126	203	c.136 others(222): Show c.1363+1952_1363+1953insCTGCTCATTGACAGACACTGGCCCCG CCTCTGCTCATTGACAGACAGTGGCCCCACCTCCGCTCATTGATAGACAC TGGCCCCACCTCTGCTCATTGACAGACACTGGTCCCGTCTCTGCTCATTG GCAGACACTGACCCCACCTCTGCTCGTTGGCAGACACTGACCCCGCCTTT GCTCTTTGACAGACAGTGGCCTCCCCT	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	11/13			chr8	TogoVar
TSNARE1_chr8_142207080_142408182	142282460	A A	AAGGGGAG others(196): Show AAGGGGAGGCCACTGTCTGTCAAAGAGCAAAGGCGGGGTCAGTGTCTGCC AACGAGCAGAGGTGGGGTCAGTGTCTGCCAATGAGCAGAGATGGGACCAG TGTCTGTCAATGAGCAGAGGTGGGGCCACTGTCTATCAATGAGCGGAGGT GGGGCCACTGTCTGTCAATGAGCAGAGGCGGGGCCAGTGTCTGTCAATGA GCAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00597.hp2 others(36): Show HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG00733.hp2 HG01081.hp1 HG01099.hp2 HG01261.hp2 HG01891.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02135.hp2 HG02273.hp1 HG02602.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG03041.hp2 HG03471.hp2 HG03491.hp1 HG03834.hp2 HG06807.hp2 NA18747.hp1 NA18947.hp1 NA18950.hp2 NA18966.hp1 NA18971.hp1 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19030.hp1 NA19074.hp1 NA19077.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0002c0002 a0002c0013 others(4): Show a0001c0001 a0002c0002 a0002c0013 a0003c0003 a0004c0004 a0004c0010 a0008c0008	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(9): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0013t0003 a0003c0003t0002 a0004c0004t0001 a0004c0004t0002 a0004c0010t0001 a0008c0008t0001 a0008c0008t0002	a0001c0001t0001g0032 a0001c0001t0001g0057 a0001c0001t0001g0062 others(36): Show a0001c0001t0001g0032 a0001c0001t0001g0057 a0001c0001t0001g0062 a0002c0002t0001g0194 a0002c0002t0001g0210 a0002c0002t0001g0213 a0002c0002t0001g0216 a0002c0002t0001g0226 a0002c0002t0002g0004 a0002c0002t0002g0197 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0201 a0002c0002t0002g0203 a0002c0002t0002g0211 a0002c0002t0002g0222 a0002c0002t0003g0119 a0002c0002t0003g0193 a0002c0002t0003g0204 a0002c0002t0003g0215 a0002c0002t0005g0209 a0002c0002t0005g0219 a0002c0013t0003g0214 a0003c0003t0002g0097 a0003c0003t0002g0098 a0003c0003t0002g0202 a0004c0004t0001g0092 a0004c0004t0001g0132 a0004c0004t0001g0191 a0004c0004t0002g0091 a0004c0004t0002g0227 a0004c0010t0001g0037 a0004c0010t0001g0144 a0008c0008t0001g0192 a0008c0008t0002g0195 a0008c0008t0002g0205 a0008c0008t0002g0206 a0008c0008t0002g0207 a0008c0008t0002g0208	39	238	0.1639	203	c.136 others(222): Show c.1363+1952_1363+1953insCTGCTCATTGACAGACACTGGCCCCG CCTCTGCTCATTGACAGACAGTGGCCCCACCTCCGCTCATTGATAGACAG TGGCCCCACCTCTGCTCATTGACAGACACTGGTCCCATCTCTGCTCATTG GCAGACACTGACCCCACCTCTGCTCGTTGGCAGACACTGACCCCGCCTTT GCTCTTTGACAGACAGTGGCCTCCCCT	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	11/13			chr8	TogoVar
TSNARE1_chr8_142207080_142408182	142282460	A A	AAGGGGAG others(196): Show AAGGGGAGGTCACTGTCTGTCAAAGAGCAAAGGCGGGGTCAGTGTCTGCC AACGAGCAGAGGTGGGGTCAGTGTCTGCCAATGAGCAGAGATGGGACCAG TGTCTGTCAATGAGCAGAGGTGGGGCCACTGTCTATCAATGAGCGGAGGT GGGGCCACTGTCTGTCAATGAGCAGAGGCGGGGCCAGTGTCTGTCAATGA GCAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01168.hp1 HG01258.hp1 others(27): Show HG01109.hp2 HG01168.hp1 HG01258.hp1 HG01891.hp1 HG01975.hp1 HG01975.hp2 HG02055.hp1 HG02145.hp1 HG02257.hp2 HG02273.hp2 HG02300.hp1 HG02451.hp2 HG02572.hp1 HG02717.hp1 HG02723.hp2 HG02886.hp2 HG02976.hp1 HG03139.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp2 HG06807.hp1 NA18522.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0002 a0014 a0015 a0002 a0014 a0015	a0002c0002 a0002c0014 a0014c0011 others(1): Show a0002c0002 a0002c0014 a0014c0011 a0015c0012	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0014t0001 a0014c0011t0002 a0015c0012t0001	a0002c0002t0001g0006 a0002c0002t0001g0056 a0002c0002t0001g0058 others(27): Show a0002c0002t0001g0006 a0002c0002t0001g0056 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0061 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0168 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0179 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0186 a0002c0002t0002g0139 a0002c0002t0002g0145 a0002c0002t0002g0161 a0002c0002t0002g0174 a0002c0002t0002g0188 a0002c0002t0003g0178 a0002c0002t0007g0223 a0002c0014t0001g0171 a0014c0011t0002g0162 a0015c0012t0001g0185	30	238	0.1261	203	c.136 others(222): Show c.1363+1952_1363+1953insCTGCTCATTGACAGACACTGGCCCCG CCTCTGCTCATTGACAGACAGTGGCCCCACCTCCGCTCATTGATAGACAG TGGCCCCACCTCTGCTCATTGACAGACACTGGTCCCATCTCTGCTCATTG GCAGACACTGACCCCACCTCTGCTCGTTGGCAGACACTGACCCCGCCTTT GCTCTTTGACAGACAGTGACCTCCCCT	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	11/13			chr8	TogoVar

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