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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
STARD9_chr15_42570606_42725998	42712097	A A	ATATATAT others(101): Show ATATATATATATATATATATATAAAATATATAATATATAATATATAATAT ATATAATATATATAATATATTATATATAATATATATATTATATATTATAT ATATTATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02647.hp2 HG02109.hp2 HG02647.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0158 a0003c0004t0002g0159 a0003c0004t0002g0158 a0003c0004t0002g0159	2	210	0.0095	108	c.132 others(129): Show c.13285-4580_13285-4579insTATATATATATATATATATATAAA ATATATAATATATAATATATAATATATATAATATATATAATATATTATAT ATAATATATATATTATATATTATATATATTATAT		STARD9	ENSG00000159433.12	transcript	ENST00000290607.12	protein_coding	26/32						chr15	TogoVar
STARD9_chr15_42570606_42725998	42712097	A A	ATATATAT others(101): Show ATATATATATATATATATATATAAAATATATAATATATAATATATATAAT ATATATAATATATTATATATAATATATATATTATATATTATATATTATAT ATATTATAT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0191 a0004c0005t0002g0191	1	210	0.0048	108	c.132 others(129): Show c.13285-4580_13285-4579insTATATATATATATATATATATAAA ATATATAATATATAATATATATAATATATATAATATATTATATATAATAT ATATATTATATATTATATATTATATATATTATAT		STARD9	ENSG00000159433.12	transcript	ENST00000290607.12	protein_coding	26/32						chr15	TogoVar
STARD9_chr15_42570606_42725998	42712097	A A	ATATATAT others(101): Show ATATATATATATATATATATATATAATATATAATATATAATATATATAAT ATATATAATATATTATATATAATATATATATTATATATTATATATTATAT ATATTATAT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0133 a0004c0005t0002g0133	1	210	0.0048	108	c.132 others(129): Show c.13285-4580_13285-4579insTATATATATATATATATATATATA ATATATAATATATAATATATATAATATATATAATATATTATATATAATAT ATATATTATATATTATATATTATATATATTATAT		STARD9	ENSG00000159433.12	transcript	ENST00000290607.12	protein_coding	26/32						chr15	TogoVar
STK32B_chr4_5046480_5505989	5317092	T T	TGATATAT others(101): Show TGATATATGATATATAATATATATGATATGATATATGATATATAATATAT ATGATATGATATATGATATATAATATATATGATATGATATATGATATATA ATATATATG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0122 a0001c0001t0005g0122	1	170	0.0059	108	c.261 others(127): Show c.261-14128_261-14127insGATATATGATATATAATATATATGAT ATGATATATGATATATAATATATATGATATGATATATGATATATAATATA TATGATATGATATATGATATATAATATATATG		STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11						chr4	TogoVar
STK33_chr11_8386870_8599228	8557276	G G	GAAGGGAA others(101): Show GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAA GGGAAGGGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0022 a0002c0004t0022	a0002c0004t0022g0151 a0002c0004t0022g0151	1	334	0.0030	108	c.-46 others(129): Show c.-466+36806_-466+36807insTCCCTTCCCTTTCCCTTTCCCTTT CCCTTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT		STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15						chr11	TogoVar
STRIT1_chr3_155285227_155298683	155298032	A A	AAAAGAAA others(101): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0006 a0001c0001t0007g0006	1	444	0.0023	108	c.-44 others(119): Show c.-4401_-4400insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTT		STRIT1	ENSG00000240045.2	transcript	ENST00000489090.2	protein_coding					4350		chr3	TogoVar
STXBP3_chr1_108741674_108814523	108772014	C C	CTATCTAT others(101): Show CTATCTATATATCATATATAAATACATATGATATCTATCTATATATCATA TATAAATACATATGATATCTATCTATATATCATATATAAATACATATGAT ATCTATCTA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	334	0.0030	108	c.439 others(123): Show c.439-650_439-649insATCTATATATCATATATAAATACATATGAT ATCTATCTATATATCATATATAAATACATATGATATCTATCTATATATCA TATATAAATACATATGATATCTATCTAT		STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr1	TogoVar
SUFU_chr10_102498972_102638535	102637543	T T	TAATATAT others(101): Show TAATATATATATTATATATTATATAACTATATTATATAATATATATATTA TATATAATATATATATTATAATATATAATTATATATAATATATATATATA TATTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	268	0.0037	108	c.73 others(119): Show c.7388_*7389insAATATATATATTATATATTATATAACTATATTAT ATAATATATATATTATATATAATATATATATTATAATATATAATTATATA TAATATATATATATATATTATATA		SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding					4009		chr10	TogoVar
SUFU_chr10_102498972_102638535	102638196	T T	TATATATG others(101): Show TATATATGATCATATAAAATATATAATATATTATATATGATCATATAAAT ATATAATATATTATATATGATCATATAAATATATAATATATTATATATGA TCATATAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02886.hp1 HG03041.hp1 HG02280.hp1 HG02886.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0177 a0001c0001t0001g0212 a0001c0001t0005g0077 a0001c0001t0001g0177 a0001c0001t0001g0212 a0001c0001t0005g0077	3	268	0.0112	108	c.80 others(119): Show c.8041_*8042insATATATGATCATATAAAATATATAATATATTATA TATGATCATATAAATATATAATATATTATATATGATCATATAAATATATA ATATATTATATATGATCATATAAA		SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding					4662		chr10	TogoVar
SUN1_chr7_827476_879934	866593	C C	CCCGGGCC others(101): Show CCCGGGCCTTCGCCCCCACTGTCTCCCCACCATCTCCGTGGGCCTTCGCC CCCACTGTCTCCCCACCATCTCCGTGGGCCTTCGCCCCCCCCCCCCGCCC CCCGTCCCA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	418	0.0024	108	c.198 others(125): Show c.1980+562_1980+563insGTGGGCCTTCGCCCCCACTGTCTCCCCA CCATCTCCGTGGGCCTTCGCCCCCCCCCCCCGCCCCCCGTCCCACCGGGC CTTCGCCCCCACTGTCTCCCCACCATCTCC		SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
SUN1_chr7_827476_879934	866631	C C	CGGGCCTT others(101): Show CGGGCCTTCGCCCCCACTGTCTCCCCACCATCTCCCCGGGCCTTCGCCCC CACTGTCTCCCCACCATCTCCCCGGGCCTTCGCCCCCACTGTCTCCCCAC CATCTCCGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp1 HG02965.hp2 others(9): Show HG02257.hp2 HG02559.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 NA19012.hp2 NA19043.hp2 NA20129.hp1	a0001 a0002 a0019 a0001 a0002 a0019	a0001c0006 a0002c0002 a0019c0028 a0001c0006 a0002c0002 a0019c0028	a0001c0006t0001 a0002c0002t0003 a0019c0028t0001 a0001c0006t0001 a0002c0002t0003 a0019c0028t0001	a0001c0006t0001g0039 a0001c0006t0001g0040 a0001c0006t0001g0049 others(9): Show a0001c0006t0001g0039 a0001c0006t0001g0040 a0001c0006t0001g0049 a0001c0006t0001g0050 a0001c0006t0001g0051 a0001c0006t0001g0052 a0001c0006t0001g0053 a0001c0006t0001g0054 a0001c0006t0001g0055 a0001c0006t0001g0108 a0002c0002t0003g0070 a0019c0028t0001g0057	12	418	0.0287	108	c.198 others(125): Show c.1980+634_1980+635insCCGGGCCTTCGCCCCCACTGTCTCCCCA CCATCTCCGTGGGCCTTCGCCCCCACTGTCTCCCCACCATCTCCCCGGGC CTTCGCCCCCACTGTCTCCCCACCATCTCC		SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
SUN1_chr7_827476_879934	866631	C C	CGGGCCTT others(101): Show CGGGCCTTCGCCCCCACTGTCTCCCCACCATCTCCCCGGGCCTTCGCCCC CACTGTCTCCCCACCATCTCCGTGGGCCTTCGCCCCCACTGTCTCCCCAC CATCTCCGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	418	0.0024	108	c.198 others(125): Show c.1980+650_1980+651insACTGTCTCCCCACCATCTCCGTGGGCCT TCGCCCCCACTGTCTCCCCACCATCTCCCCGGGCCTTCGCCCCCACTGTC TCCCCACCATCTCCGTGGGCCTTCGCCCCC		SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
SUN1_chr7_827476_879934	866667	C C	CGGGCCTT others(101): Show CGGGCCTTCGCCCCCACTGTCTCCCCACCATCTCCCCGGGCCTTCGCCCC CACTGTCTCCCCACCATCTCCCCGGGCCTTCGCCCCCACTGTCTCCCCAC CATCTCCGT	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA20905.hp2 HG04115.hp2 NA20905.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0357 a0003c0003t0001g0358 a0003c0003t0001g0357 a0003c0003t0001g0358	2	418	0.0048	108	c.198 others(125): Show c.1980+634_1980+635insCCGGGCCTTCGCCCCCACTGTCTCCCCA CCATCTCCCCGGGCCTTCGCCCCCACTGTCTCCCCACCATCTCCGTGGGC CTTCGCCCCCACTGTCTCCCCACCATCTCC		SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
SUN1_chr7_827476_879934	866667	C C	CGGGCCTT others(101): Show CGGGCCTTCGCCCCCACTGTCTCCCCACCATCTCCCCGGGCCTTCGCCCC CACTGTCTCCCCACCATCTCCGTGGGCCTTCGCCCCCACTGTCTCCCCAC CATCTCCGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0020 a0020	a0020c0026 a0020c0026	a0020c0026t0001 a0020c0026t0001	a0020c0026t0001g0222 a0020c0026t0001g0222	1	418	0.0024	108	c.198 others(125): Show c.1980+634_1980+635insCCGGGCCTTCGCCCCCACTGTCTCCCCA CCATCTCCGTGGGCCTTCGCCCCCACTGTCTCCCCACCATCTCCGTGGGC CTTCGCCCCCACTGTCTCCCCACCATCTCC		SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
SYN3_chr22_32502820_33063381	32814324	A A	AAAGAAAG others(101): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGGAAGAAAGAAAGAAAG GAAGAAAGG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0069 a0001c0001t0076g0069	1	184	0.0054	108	c.711 others(127): Show c.711+50590_711+50591insCCTTTCTTCCTTTCTTTCTTTCTTCC TTTCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT		SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13						chr22	TogoVar
SYNPR_chr3_63273308_63621924	63313914	T T	TATATATA others(101): Show TATATATATATCCATATATATCTCCATATATATATATCCATATATATCTC CATATATATATATCCATATATATATATCTCCATATATATATATCCATATA TATATCTCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03195.hp1 HG02486.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0207 a0001c0001t0003g0205 a0001c0001t0001g0207 a0001c0001t0003g0205	2	246	0.0081	108	c.84+ others(125): Show c.84+35182_84+35183insCCATATATATCTCCATATATATATATCC ATATATATCTCCATATATATATATCCATATATATATATCTCCATATATAT ATATCCATATATATATCTCCATATATATAT		SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
SYT14_chr1_209933217_210176315	209990527	A A	ATATATAT others(101): Show ATATATATATACGTATATATATATACGTATATATATGTATATATATATAC GTATATATATGTATATATATATACGTATATATATACGTATATATATGTAT ATATATACG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0244 a0001c0001t0038g0244	1	358	0.0028	108	c.62- others(125): Show c.62-23085_62-23084insATACGTATATATATGTATATATATATAC GTATATATATGTATATATATATACGTATATATATACGTATATATATGTAT ATATATACGTATATATATACGTATATATAT		SYT14	ENSG00000143469.21	transcript	ENST00000367019.6	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
SYT1_chr12_78859774_79457008	79179129	T T	TATAGATA others(101): Show TATAGATATATAGATATATCTATATAGATATAGATATAGATATATAGATA TAGATATATCTATATAGATATATAGATATAGATATATAGATATAGATATA TCTATATAG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0047 a0001c0002t0011g0061 a0001c0002t0011g0047 a0001c0002t0011g0061	2	62	0.0323	108	c.-17 others(127): Show c.-17-38371_-17-38370insGATATATAGATATATCTATATAGATA TAGATATAGATATATAGATATAGATATATCTATATAGATATATAGATATA GATATATAGATATAGATATATCTATATAGATA		SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr12	TogoVar
SYT1_chr12_78859774_79457008	79179346	G G	GTCTATAT others(101): Show GTCTATATAGATATAGATATAGATATAGATATATCGATATGTCTATATCG ATATAGATATAGATATAGATATATCGATATATCTATATCGATATAGATAT ATCGATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	1	62	0.0161	108	c.-17 others(127): Show c.-17-38150_-17-38149insAGATATAGATATAGATATAGATATAT CGATATGTCTATATCGATATAGATATAGATATAGATATATCGATATATCT ATATCGATATAGATATATCGATATATCTATAT		SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr12	TogoVar
SYTL3_chr6_158645054_158769871	158693698	T T	TTTCTTTC others(101): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCCTTCTTTCCTTCCTTCTTTCCTTCCTTCTTTCCTTCCTTCTTTCCTTC CTTCTTTCC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0221 a0002c0005t0001g0221	1	292	0.0034	108	c.394 others(127): Show c.394+10731_394+10732insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCCTTCTTTCCTTCCTTCTTTCCTTCCTTCTTTCCTTCCTTCTTTCCTT CCTTCTTTCCTTCTTTCTTTCTTTCTTTCTTT		SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
TANGO6_chr16_68838531_69090182	69072083	C C	CGTGTGTG others(101): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGAAGAGAGAGGGAGACC GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGAGAGAGGGAGAC CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03130.hp2 HG02922.hp1 HG03130.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0006c0010t0001 a0001c0001t0001 a0006c0010t0001	a0001c0001t0001g0208 a0006c0010t0001g0206 a0001c0001t0001g0208 a0006c0010t0001g0206	2	210	0.0095	108	c.310 others(129): Show c.3109-11386_3109-11385insGTGTGTGTGTATGTGTGAAGAGAG AGGGAGACCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGAGA GAGGGAGACCGTGTGTGTGTGTGTGTGTGTGTGT		TANGO6	ENSG00000103047.8	transcript	ENST00000261778.2	protein_coding	17/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
TBATA_chr10_70766238_70790377	70767660	A A	AAGAAAGA others(101): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAAGAAAGAAGAAAGAAAGAAAGAAGAAAGAAAGAAGAAA GAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 NA19240.hp2 HG03471.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0071 a0001c0002t0001g0072	2	410	0.0049	108	c.37 others(119): Show c.3715_*3716insCTTTCTTTCTTTCTTCTTTCTTTCTTCTTTCTTT CTTTCTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT		TBATA	ENSG00000166220.14	transcript	ENST00000456372.4	protein_coding					3577		chr10	TogoVar
TBATA_chr10_70766238_70790377	70767660	A A	AAGAAAGA others(101): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGGAAAGAAAGAAGAAAGAAAGAAAGAAGAAAGAAAGAAGAAA GAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG02293.hp1 HG03942.hp1 others(2): Show HG00609.hp1 HG02293.hp1 HG03942.hp1 NA18943.hp1 NA18967.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0003 a0006c0009 a0001c0001 a0002c0003 a0006c0009	a0001c0001t0001 a0002c0003t0001 a0006c0009t0001 a0001c0001t0001 a0002c0003t0001 a0006c0009t0001	a0001c0001t0001g0153 a0001c0001t0001g0201 a0002c0003t0001g0057 others(2): Show a0001c0001t0001g0153 a0001c0001t0001g0201 a0002c0003t0001g0057 a0002c0003t0001g0213 a0006c0009t0001g0174	5	410	0.0122	108	c.37 others(119): Show c.3715_*3716insCTTTCTTTCTTTCTTCTTTCTTTCTTCTTTCTTT CTTTCTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT		TBATA	ENSG00000166220.14	transcript	ENST00000456372.4	protein_coding					3577		chr10	TogoVar
TBATA_chr10_70766238_70790377	70767660	A A	AAGAAAGA others(101): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAGGAAAGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	410	0.0024	108	c.37 others(119): Show c.3715_*3716insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT CTTTCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TTCTTTCTTTCTTTCTTTCTTTCT		TBATA	ENSG00000166220.14	transcript	ENST00000456372.4	protein_coding					3577		chr10	TogoVar
TBATA_chr10_70766238_70790377	70767660	A A	AAGAAAGA others(101): Show AAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAGGAAAGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	410	0.0024	108	c.37 others(119): Show c.3715_*3716insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT CTTTCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTTCTTTCT		TBATA	ENSG00000166220.14	transcript	ENST00000456372.4	protein_coding					3577		chr10	TogoVar
TBC1D14_chr4_6904826_7038114	6977077	C C	CTCCTCTC others(101): Show CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTC CCTCCCTCTCCCTCTCCCCTCTCCCTCTCCCTCTCCCCACGGTCTCCCTC TCCCCACGG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	304	0.0033	108	c.843 others(125): Show c.843+9655_843+9656insCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCTCCCTCCCTCTCCCTCTCCCCTCTCCCTCTCCC TCTCCCCACGGTCTCCCTCTCCCCACGGTC		TBC1D14	ENSG00000132405.19	transcript	ENST00000409757.9	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D16_chr17_79927343_80040872	79929970	T T	TCCCCTCC others(101): Show TCCCCTCCCCTCCTCTCCCCTCCTCTCCCCTCTCCTCCCCTCCTCTCCCC TCCCCTCCCCTCCCCTCTCCTCTCCTCCCCTCCCCTCTCCTCTCCTCCCC TCCCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18999.hp1 NA19054.hp1 NA18986.hp2 NA18999.hp1 NA19054.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0010c0020 a0001c0001 a0001c0002 a0010c0020	a0001c0001t0019 a0001c0002t0138 a0010c0020t0052 a0001c0001t0019 a0001c0002t0138 a0010c0020t0052	a0001c0001t0019g0122 a0001c0002t0138g0145 a0010c0020t0052g0085 a0001c0001t0019g0122 a0001c0002t0138g0145 a0010c0020t0052g0085	3	334	0.0090	108	c.10 others(121): Show c.10888_*10889insGGGAGGGGAGGGGAGGAGAGGAGAGGGGAGGG GAGGAGAGGAGAGGGGAGGGGAGGGGAGGGGAGAGGAGGGGAGGAGAGGG GAGAGGAGGGGAGAGGAGGGGAGGGG		TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding					2372		chr17	TogoVar
TBC1D22A_chr22_46757650_47180693	46772609	T T	TATATATG others(101): Show TATATATGTATACACACATACATATATATGTATACACACATACATATATA TGTATACACACATATACATATATATGTATACACACATATACATATATATG TATACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03453.hp1 HG03098.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0046 a0001c0001t0001g0047	2	112	0.0179	108	c.62+ others(123): Show c.62+9766_62+9767insTGTATACACACATACATATATATGTATACA CACATACATATATATGTATACACACATATACATATATATGTATACACACA TATACATATATATGTATACACACATATA		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47176353	G G	GTGCCCCT others(101): Show GTGCCCCTGTCCCCGCGGGTGTGGGGTGTGCCCCTGTCCCCGCGGGTGTG GGGTGTGCCCCTGTCCCCGCGGGTGTGGGGTGTGCCCCTGTCCCCGCGGG TGTGGGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	112	0.0089	108	c.27 others(119): Show c.2727_*2728insTGCCCCTGTCCCCGCGGGTGTGGGGTGTGCCCCT GTCCCCGCGGGTGTGGGGTGTGCCCCTGTCCCCGCGGGTGTGGGGTGTGC CCCTGTCCCCGCGGGTGTGGGGTT		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding					661		chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47176434	G G	GTGCCCCT others(101): Show GTGCCCCTGTCCCCGCGGGTGTGGGGTGTGCCCCTGTCCCCGCGGGTGTG GGGTGTGCCCCTGTCCCCGCGGGTGTGGGGTGTGCCCCTGTCCCCGCGGG TGTGGGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0038 a0001c0001t0020g0038	1	112	0.0089	108	c.28 others(119): Show c.2808_*2809insTGCCCCTGTCCCCGCGGGTGTGGGGTGTGCCCCT GTCCCCGCGGGTGTGGGGTGTGCCCCTGTCCCCGCGGGTGTGGGGTGTGC CCCTGTCCCCGCGGGTGTGGGGTT		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding					742		chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47176434	G G	GTGCCCCT others(101): Show GTGCCCCTGTCCCCGCGGGTGTGGGGTGTGCCCCTGTCCCCGCGGGTGTG GGGTTTGCCCCTGTCCCCGCGGGTGTGGGGTGTGCCCCTGTCCCCGCGGG TGTGGGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0065 a0001c0001t0014g0065	1	112	0.0089	108	c.28 others(119): Show c.2808_*2809insTGCCCCTGTCCCCGCGGGTGTGGGGTGTGCCCCT GTCCCCGCGGGTGTGGGGTTTGCCCCTGTCCCCGCGGGTGTGGGGTGTGC CCCTGTCCCCGCGGGTGTGGGGTT		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding					742		chr22	TogoVar
TBCD_chr17_82747065_82950914	82784938	A A	AGGGGGTC others(101): Show AGGGGGTCCATGCTGTGTGACTGAGACCACTGGACCCCACCCATCGCAGC GGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGGATCCCACCCATCG CAGCGGGAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0008 a0001c0009t0008	a0001c0009t0008g0086 a0001c0009t0008g0086	1	318	0.0031	108	c.771 others(125): Show c.771+3321_771+3322insGGAGGGGGGTCCATGCTGTGTGACTGAG ACCACTGGACCCCACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGAC TGGGACCACTGGATCCCACCCATCGCAGCG		TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	7/38					INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82785405	G G	GACCCATC others(101): Show GACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGG ACCCGACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCA CTGGATCCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp2 HG02559.hp1 others(5): Show HG01884.hp1 HG02258.hp2 HG02559.hp1 HG02630.hp2 HG03098.hp1 HG03471.hp2 HG03579.hp1 NA20129.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0021	a0001c0002 a0002c0007 a0002c0026 others(2): Show a0001c0002 a0002c0007 a0002c0026 a0005c0013 a0021c0046	a0001c0002t0022 a0002c0007t0011 a0002c0026t0008 others(2): Show a0001c0002t0022 a0002c0007t0011 a0002c0026t0008 a0005c0013t0011 a0021c0046t0011	a0001c0002t0022g0135 a0001c0002t0022g0232 a0002c0007t0011g0237 others(5): Show a0001c0002t0022g0135 a0001c0002t0022g0232 a0002c0007t0011g0237 a0002c0026t0008g0236 a0005c0013t0011g0234 a0005c0013t0011g0235 a0005c0013t0011g0238 a0021c0046t0011g0233	8	318	0.0252	108	c.771 others(125): Show c.771+3705_771+3812dupGGTCCATGCTGTGTGACTGGGACCACTG GACCCGACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACC ACTGGATCCCACCCATCGCAGCGGGAGGGG		TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	7/38					INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82785642	G G	GGTCCATG others(101): Show GGTCCATGCTGTGTGACTGGGACCACTGGACCCGACCCATCGCAGCGGGA GGGGGGTCCATGCTGTGTGACTGGGACCACTGGATCCCACCCATCGCAGC GGGAGGGGC	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA18906.hp2 HG02723.hp2 NA18906.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0005 a0002c0006t0005	a0002c0006t0005g0214 a0002c0006t0005g0215 a0002c0006t0005g0214 a0002c0006t0005g0215	2	318	0.0063	108	c.771 others(125): Show c.771+3950_771+3951insCCCGACCCATCGCAGCGGGAGGGGGGTC CATGCTGTGTGACTGGGACCACTGGATCCCACCCATCGCAGCGGGAGGGG CGTCCATGCTGTGTGACTGGGACCACTGGA		TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	7/38					INFO_REALIGN_3_PRIME	chr17	TogoVar
TBL1XR1_chr3_177014344_177202482	177195443	T T	TAAAATGG others(101): Show TAAAATGGTGAGAACATGCCGAGATCCCGCCACTGCACTCCAGCCTGGGT GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	306	0.0033	108	c.-12 others(127): Show c.-122+1677_-122+1678insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCA GTGGCGGGATCTCGGCATGTTCTCACCATTTT		TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15						chr3	TogoVar
TBXA2R_chr19_3589507_3611875	3590623	T T	TGCCCAGC others(101): Show TGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAAA ACTCAGATGGGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTC TGAGACCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0126 a0001c0004t0003g0126	1	428	0.0023	108	c.50 others(119): Show c.5064_*5065insTCGGTCTCAGAGCCCATCTGAGTTCTAGAGCTGG GCATGGTCTCAGAGCCCATCTGAGTTTTAGAGCTGGGCTCGGTCTCAGAG CCCATCTGAGTTCTAGAGCTGGGC		TBXA2R	ENSG00000006638.13	transcript	ENST00000375190.10	protein_coding					3883		chr19	TogoVar
TCF7L1_chr2_85128392_85315387	85308376	C C	CCATTCTC others(101): Show CCATTCTCCTTCCCTCCCTTTCCCCCTCCCTCCCTCCCTTTCCCCCTCCC TCCCTCCCTTTCCCCCTCCCTCCCTCCCTTTCCCCCTCCCTCCTTTTCTC CCTCCCTCG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0048 a0002c0002t0002g0048	1	236	0.0042	108	c.133 others(125): Show c.1334-652_1334-651insATTCTCCTTCCCTCCCTTTCCCCCTCCC TCCCTCCCTTTCCCCCTCCCTCCCTCCCTTTCCCCCTCCCTCCCTCCCTT TCCCCCTCCCTCCTTTTCTCCCTCCCTCGC		TCF7L1	ENSG00000152284.5	transcript	ENST00000282111.4	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
TCHH_chr1_152101317_152120444	152111926	C C	CCTGCTGC others(101): Show CCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGC CTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTC GCGCCTCAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02717.hp2 HG03471.hp1 HG02717.hp2 HG03471.hp1	a0060 a0060	a0060c0043 a0060c0043	a0060c0043t0001 a0060c0043t0001	a0060c0043t0001g0040 a0060c0043t0001g0040	2	402	0.0050	108	c.129 others(117): Show c.1290_1291insCTGAGGCGCGAGCAGCAGCTGAGGCGCGAGCAGCAG CTGAGGCGCGAGCAGCAGCTGAGGCGCGAGCAGCAGCTGAGGCGCGAGCA GCAGCTGAGGCGCGAGCAGCAG	p.Glu others(121): Show p.Glu430_Glu431insLeuArgArgGluGlnGlnLeuArgArgGluGl nGlnLeuArgArgGluGlnGlnLeuArgArgGluGlnGlnLeuArgArgG luGlnGlnLeuArgArgGluGlnGln	TCHH	ENSG00000159450.13	transcript	ENST00000614923.2	protein_coding	3/3	1375/6985	1290/5832	430/1943			chr1	TogoVar
TCHH_chr1_152101317_152120444	152111929	C C	CCTGCTCG others(101): Show CCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTC AGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCG CCTCAGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18970.hp2 NA18970.hp2	a0124 a0124	a0124c0092 a0124c0092	a0124c0092t0001 a0124c0092t0001	a0124c0092t0001g0107 a0124c0092t0001g0107	1	402	0.0025	108	c.118 others(117): Show c.1180_1287dupCAGCTGAGGCGCGAGCAGCAGCTGAGGCGCGAGCAG CAGCTGAGGCGCGAGCAGCAGCTGAGGCGCGAGCAGCAGCTGAGGCGCGA GCAGCAGCTGAGGCGCGAGCAG	p.Gln others(121): Show p.Gln429_Glu430insGlnLeuArgArgGluGlnGlnLeuArgArgGl uGlnGlnLeuArgArgGluGlnGlnLeuArgArgGluGlnGlnLeuArgA rgGluGlnGlnLeuArgArgGluGln	TCHH	ENSG00000159450.13	transcript	ENST00000614923.2	protein_coding	3/3	1372/6985	1287/5832	429/1943			chr1	TogoVar
TDP1_chr14_89950927_90049764	89978968	T T	TCGAACTC others(101): Show TCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCC GGGATTACAGGCGTGAGCCACCGCACCTAGCGTATTTTTAAAATGTTTTA AGAATTAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18906.hp2 HG02280.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0191 a0001c0001t0001g0192	2	264	0.0076	108	c.792 others(125): Show c.792-1572_792-1571insCGAACTCCTGACCTCAGGTGATCCACCC GCCTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCACCTA GCGTATTTTTAAAATGTTTTAAGAATTAAA		TDP1	ENSG00000042088.14	transcript	ENST00000335725.9	protein_coding	7/16						chr14	TogoVar
TENM2_chr5_166974029_168269157	167600086	C C	CGTTAGCC others(101): Show CGTTAGCCAACACTGCACCACTCCACTCCAGCCTGGGCGACAGAACGAGA CTCTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTTCA TTATGTTGT	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19043.hp2 HG03209.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0030 a0001c0002 a0001c0030	a0001c0002t0013 a0001c0030t0026 a0001c0002t0013 a0001c0030t0026	a0001c0002t0013g0041 a0001c0030t0026g0014 a0001c0002t0013g0041 a0001c0030t0026g0014	2	54	0.0370	108	c.502 others(129): Show c.502+224613_502+224614insGTTAGCCAACACTGCACCACTCCA CTCCAGCCTGGGCGACAGAACGAGACTCTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAGTTTCATTATGTTGT		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30						chr5	TogoVar
TENT5A_chr6_81740730_81757681	81741080	A A	AATGTGTA others(101): Show AATGTGTATCAATTATATATTACATATAATGTGTATCATGTTATATATTA CATATAATGTGTATCATGTTATATATTACATATAATGTGTATCATGTTAT ATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	446	0.0022	108	c.86 others(119): Show c.8614_*8615insATATAATATATAACATGATACACATTATATGTAA TATATAACATGATACACATTATATGTAATATATAACATGATACACATTAT ATGTAATATATAATTGATACACAT		TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding					4649		chr6	TogoVar
TERT_chr5_1248167_1300068	1272785	C C	CCACACAT others(101): Show CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCC ACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCA CAGTCACCA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	392	0.0026	108	c.228 others(125): Show c.2287-506_2287-505insTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGTG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1272957	C C	CCACAGTC others(101): Show CCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACA CATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGAC CGCCATCCA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0370 a0001c0001t0001g0370	1	392	0.0026	108	c.228 others(125): Show c.2287-678_2287-677insTGGATGGCGGTCGTGGGGTCTGATGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGC GGTCGTGGGGTCTGATGTGTGGTGACTGTG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1272957	C C	CCACAGTC others(101): Show CCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACA TCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGAC CGCCATCCA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0094	1	392	0.0026	108	c.228 others(125): Show c.2287-678_2287-677insTGGATGGCGGTCGTGGGGTCTGATGTGT GGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGC GGTCGTGGGGTCTGATGTGTGGTGACTGTG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1273296	C C	CCACACAT others(101): Show CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CTACGACCGCCATCCACAGTCACCACATCAGACCCCACAACCGCCATCCA CAGTCACCA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	392	0.0026	108	c.228 others(127): Show c.2287-1017_2287-1016insTGGTGACTGTGGATGGCGGTTGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGTG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1273296	C C	CCACACAT others(101): Show CCACACATCAGACCCTACGACCGCCATCCACAGTCACCACATCAGACCCC ACAACCGCCATCCACAGTCACCACACATCAGACCCCACGACCACCATCCA CAGTCACCA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	392	0.0026	108	c.228 others(127): Show c.2287-1017_2287-1016insTGGTGACTGTGGATGGTGGTCGTGGG GTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGGTGA CTGTGGATGGCGGTCGTAGGGTCTGATGTGTG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1273751	C C	CCGCCATC others(101): Show CCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACATCAGACCCCACAACCGCCATCCACAGTCACCACACATCAGACCCCT GTGACCGAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	392	0.0026	108	c.228 others(127): Show c.2287-1472_2287-1471insATCGGTCACAGGGGTCTGATGTGTGG TGACTGTGGATGGCGGTTGTGGGGTCTGATGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGTGGTGACTGTGGATGGCG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1273788	C C	CCGATCAC others(101): Show CCGATCACCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCA CAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACAT CAGACCCCA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	392	0.0026	108	c.228 others(127): Show c.2287-1509_2287-1508insTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGTGGTGACTGTGGATGGTGATCG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TGFBRAP1_chr2_105259414_105334735	105279603	C C	CAAGAAGC others(101): Show CAAGAAGCCTCCCTTTGAGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0212 a0002c0004t0006g0212	1	380	0.0026	108	c.146 others(125): Show c.1463+778_1463+779insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCCTCTCAAAGGGAGGCTTCTT		TGFBRAP1	ENSG00000135966.14	transcript	ENST00000393359.7	protein_coding	6/11						chr2	TogoVar

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