Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
SAMD11_chr1_918923_949574	934629	G G	GGGCGGCT others(162): Show GGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACA GGTGGGCGGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTC CGTTACAGGTGGGCGGGGGA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0168 a0001c0001t0003g0168	1	434	0.0023	169	c.843 others(186): Show c.843-1080_843-1079insGCGTTACAGGTGGGCGGGGGAGGCGGCT CCGTTACAGGTGGGCGGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGA GGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGC GGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARDH_chr9_133658560_133743352	133669047	T T	TACCCTCC others(162): Show TACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCCTCTCCCTCA CCCTCCCTCTCCCCTCATCCTCCCTCTCCCTCACCCTCCCTCTCCCCTTA CCCTCCCTCTTCCCTTACCCTCCCCCTCCCTCTCCCTCACCTTCCCTCTC CCCTACCCTCCCTCTCCCTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0004 a0002c0008t0004	a0002c0008t0004g0014 a0002c0008t0004g0014	1	262	0.0038	169	c.249 others(188): Show c.2495+1536_2495+1537insGAGGGAGAGGGAGGGTAGGGGAGAGG GAAGGTGAGGGAGAGGGAGGGGGAGGGTAAGGGAAGAGGGAGGGTAAGGG GAGAGGGAGGGTGAGGGAGAGGGAGGATGAGGGGAGAGGGAGGGTGAGGG AGAGGGAGGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCFD2_chr4_52867982_53371061	53207619	G G	GACCCAAA others(162): Show GACCCAAACCATATTAGACTTTTCATTTAGAACATTATATATATATAAAT TGTATATATATATATAAATTGTATATATAATATATATATATAAATTATAT ATATATATACAATTTATATATATATAATGTTCTAAATGAAAAGTCTAATA TGGTTTGGGTCTGTATCACC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02630.hp1 HG02896.hp1 others(3): Show HG02451.hp1 HG02630.hp1 HG02896.hp1 HG02965.hp1 HG02976.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0142 a0001c0001t0008g0041	6	162	0.0370	169	c.131 others(190): Show c.1312-62038_1312-62037insGGTGATACAGACCCAAACCATATT AGACTTTTCATTTAGAACATTATATATATATAAATTGTATATATATATAT AATTTATATATATATATTATATATACAATTTATATATATATATACAATTT ATATATATATAATGTTCTAAATGAAAAGTCTAATATGGTTTGGGT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGCGTT others(162): Show GGGGCGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGT GGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGT GAGGGGTTGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0138 a0003c0004t0003g0138	1	290	0.0035	169	c.464 others(182): Show c.464+84_464+85insCGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGT TGAGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGG GGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGG GTGGGGTGTTGGGTGAGGGGTTGGGGTTGAGTGAGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3977001	C C	CCCTCCAG others(162): Show CCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCGAGGCTACCA CACAGACGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCC ACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGC GAGGCTGCCACGCAGAGGGT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0023 a0001c0005t0001g0023	1	116	0.0086	169	c.199 others(188): Show c.1994+2501_1994+2502insACCACACAGACGGTCCTCCAGAGAAT CACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACGCAGAGGGTCC TCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCGAGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEC31B_chr10_100481647_100524861	100494005	A A	AGAAAGGG others(162): Show AGAAAGGGAGGGAGGAAAGGGAGGGAGGAAAGGGAGGGAGGAAAGGGAGG GAGGAAAGGGAGGGAGGAAAGGGAGGGAGGAAAGGGAGGGAGGAAAGGGA GGGAGGAAAGGGAGGGAGGAAAGGGAGGGAGGAAAGGGAGGGAGGAAAGG GAGGGAGGAAAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0119 a0009c0009t0001g0119	1	298	0.0034	169	c.247 others(188): Show c.2472+1379_2472+1380insCTCCCTCCCTTTCCTCCCTCCCTTTC CTCCCTCCCTTTCCTCCCTCCCTTTCCTCCCTCCCTTTCCTCCCTCCCTT TCCTCCCTCCCTTTCCTCCCTCCCTTTCCTCCCTCCCTTTCCTCCCTCCC TTTCCTCCCTCCCTTTCCTCCCTCCCTTTCCTCCCTCCCTTTC	SEC31B	ENSG00000075826.17	transcript	ENST00000370345.8	protein_coding	19/25			chr10	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(162): Show CATATATATATATTCCATATATATATATTCCATATATATATATTCCATAT ATATATTCCATATATATTCCATATATATATTCCATATATATATTCCATAT ATATATATATTCCATATATATATTCCATATATATATTCCATATATATATA TATTCCATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0213 a0001c0003t0001g0213	1	324	0.0031	169	c.115 others(186): Show c.115-2706_115-2705insATATATATATATATGGAATATATATATA TATGGAATATATATATGGAATATATATATGGAATATATATATATATGGAA TATATATATGGAATATATATATGGAATATATATGGAATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SFSWAP_chr12_131706090_131804738	131779208	T T	TGTGTGTG others(162): Show TGTGTGTGAAGAGGGCGGCGCGGGTGAGCGTGTGTGAAGAGGGCGGCGCG GGTGAGCGTGTGTGAAGAGGGCGGCGCGGGTGAGTGTGTGTGAAGAGGGC GGCGCGGGGTGAGCGTGTGTGAAGAGGGCGGCGCGGGTGAGCGTGTGTGA AGAGGGCGGCGCGGGTGAGC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	318	0.0031	169	c.240 others(186): Show c.2408+933_2408+934insCGTGTGTGAAGAGGGCGGCGCGGGTGAG TGTGTGTGAAGAGGGCGGCGCGGGGTGAGCGTGTGTGAAGAGGGCGGCGC GGGTGAGCGTGTGTGAAGAGGGCGGCGCGGGTGAGCGTGTGTGAAGAGGG CGGCGCGGGTGAGCGTGTGTGAAGAGGGCGGCGCGGGTGAG	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131779208	T T	TGTGTGTG others(162): Show TGTGTGTGAAGAGGGCGGCGCGGGTGAGCGTGTGTGAAGAGGGCGGCGCG GTGTGAGCGTGTGTGAAGAGGGCGGCGCGGGTGAGTGTGTGTGAAGAGGG CGGCGCGGGTGAGCGTGTGTGAAGAGGGCGGCGCGGGTGAGCGTGTGTGA AGAGGGCGGCGCGGGTGAGC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	318	0.0031	169	c.240 others(186): Show c.2408+928_2408+929insTGTGAGCGTGTGTGAAGAGGGCGGCGCG GGTGAGTGTGTGTGAAGAGGGCGGCGCGGGTGAGCGTGTGTGAAGAGGGC GGCGCGGGTGAGCGTGTGTGAAGAGGGCGGCGCGGGTGAGCGTGTGTGAA GAGGGCGGCGCGGGTGAGCGTGTGTGAAGAGGGCGGCGCGG	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SGIP1_chr1_66529153_66756139	66630905	A A	AAGAAAGA others(162): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGGAG GGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0165 a0001c0001t0011g0165	1	302	0.0033	169	c.75- others(184): Show c.75-2165_75-2164insAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAGGGAGGGAGGGAGGGAGGGAGGGAG	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24			chr1	TogoVar
SIGIRR_chr11_400716_419999	401552	G G	GCCCGCTC others(162): Show GCCCGCTCACACCCGCCCCGCTCACCCCGGCCCCGCTCACCCCCGGCCCC GCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCA CCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACAC CCGCCCCGCTCACCCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	242	0.0041	169	c.43 others(180): Show c.4343_*4344insGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCC GGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGT GTGAGCGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGA GCGGGGCCGGGGTGAGCGGGGCGGGTGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4163		chr11	TogoVar
SIGIRR_chr11_400716_419999	401739	G G	GCCCCGCT others(162): Show GCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCC CCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCG CTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCAC CCCCGGCCCCGCTCACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0087 a0004c0005t0001g0087	1	242	0.0041	169	c.41 others(180): Show c.4156_*4157insGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGG TGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTG AGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGC GGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3976		chr11	TogoVar
SKAP2_chr7_26662068_26869590	26805723	C C	CATGAATA others(162): Show CATGAATAGTTTCTAAGCCAGAGGACTGCTAAGCCATTCCCCAATGCTTG ACTCACAGAAATGTGAGAATAAAAGGTTTATTACTTAATAATAAATATAT GTACACTTCATTTTATTGCATTTCACTTATTGCACATTGCAGACAATCGC ACCTTCTACAAGTTGACGGT	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0108 a0001c0001t0018g0108	1	296	0.0034	169	c.307 others(188): Show c.307+38306_307+38307insACCGTCAACTTGTAGAAGGTGCGATT GTCTGCAATGTGCAATAAGTGAAATGCAATAAAATGAAGTGTACATATAT TTATTATTAAGTAATAAACCTTTTATTCTCACATTTCTGTGAGTCAAGCA TTGGGGAATGGCTTAGCAGTCCTCTGGCTTAGAAACTATTCAT	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	4/12			chr7	TogoVar
SLC18B1_chr6_132764370_132803637	132792225	C C	CAAGAAAG others(162): Show CAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0058 a0003c0006t0002g0058	1	304	0.0033	169	c.184 others(186): Show c.184-1954_184-1953insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC25A16_chr10_68472998_68532523	68480398	T T	TAATATCC others(162): Show TAATATCCTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCTCTC AGGGAGGCTAAGAGGCGGGAGGATAGCTTGAGCCCAGGAGTTCGAGACCT GCCTGGGCAATATAGCGAGACCCCGTTCTCCAGAAAAAGGAAAAAAAAAA AAAAAAAAAAAACAAAAGAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0089 a0001c0001t0040g0089	1	312	0.0032	169	c.30 others(180): Show c.3033_*3034insGTCTTTTGTTTTTTTTTTTTTTTTTTTTTTCCTT TTTCTGGAGAACGGGGTCTCGCTATATTGCCCAGGCAGGTCTCGAACTCC TGGGCTCAAGCTATCCTCCCGCCTCTTAGCCTCCCTGAGAGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCAGAGGATATT	SLC25A16	ENSG00000122912.15	transcript	ENST00000609923.6	protein_coding	9/9	3033		chr10	TogoVar
SLC25A41_chr19_6421037_6438763	6429100	T T	TATATATA others(162): Show TATATATATAATATATATATTATATATATGTTACATATATATATAATATA TATATTATATATATGTTACATATATATAATATATATATTATATATATGTT ATATATATATATAATATATATATTATATATATGTTACATATATATAATAT ATATATTATATATATGTTAC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0287 a0001c0002t0001g0287	1	350	0.0029	169	c.624 others(184): Show c.624+623_624+624insGTAACATATATATAATATATATATTATATA TATGTAACATATATATAATATATATATTATATATATATATAACATATATA TAATATATATATTATATATATGTAACATATATATAATATATATATTATAT ATATATGTAACATATATATAATATATATATTATATATAT	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC25A41_chr19_6421037_6438763	6429111	T T	TATATATA others(162): Show TATATATATTATATATATGTTACATATATATATAATATATATATTATATA TATGTTACATATATATATAATATATATATTATATATATGTTACATATATA TATAATATATATATTATATATATGTTACATATATATAATATATATATTAT ATATATGTTACATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	350	0.0029	169	c.624 others(184): Show c.624+612_624+613insTATATATATGTAACATATATATAATATATA TATTATATATATGTAACATATATATAATATATATATTATATATATATGTA ACATATATATAATATATATATTATATATATATGTAACATATATATAATAT ATATATTATATATATATGTAACATATATATAATATATAT	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC2A11_chr22_23852875_23891312	23854682	G G	GGGGGGGG others(162): Show GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCT GGCCAGCCGCCCCATCCGGGAGGGAGGCGGGGGGGGGGGGTCGGCCAGCC GCCCCGTCCGGGAGGGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG03831.hp2 HG03834.hp2 HG02735.hp2 HG03831.hp2 HG03834.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0009c0009 a0002c0002 a0009c0009	a0002c0002t0003 a0009c0009t0017 a0002c0002t0003 a0009c0009t0017	a0002c0002t0003g0225 a0009c0009t0017g0224 a0009c0009t0017g0226 a0002c0002t0003g0225 a0009c0009t0017g0224 a0009c0009t0017g0226	3	415	0.0072	169	c.-33 others(180): Show c.-3318_-3317insGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGCGGGGGGG GGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	SLC2A11	ENSG00000133460.20	transcript	ENST00000316185.9	protein_coding		3192		chr22	TogoVar
SLC2A11_chr22_23852875_23891312	23855202	T T	TGGCCAGC others(162): Show TGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCATCCGGGA GGGAGGCGGGGGGGGGGGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0223 a0002c0002t0001g0223	1	415	0.0024	169	c.-27 others(180): Show c.-2798_-2797insGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAG CCGCCCCATCCGGGAGGGAGGCGGGGGGGGGGGTC	SLC2A11	ENSG00000133460.20	transcript	ENST00000316185.9	protein_coding		2672		chr22	TogoVar
SLC2A5_chr1_9030106_9074635	9053402	T T	TATATATT others(162): Show TATATATTTATATATTATATATATTTATATATATTATATATTTATATATT ATATATATTTATATATAATATATATTATATATTTATATATTATATATATT TATATATATTATATATTTATATATTATATATATTTATATATATTATATAT TTATATATTATATATATTTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00642.hp2 others(30): Show HG00140.hp1 HG00642.hp1 HG00642.hp2 HG01069.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp2 HG01358.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG02132.hp2 HG02602.hp2 HG02698.hp2 HG02735.hp1 HG03239.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp2 HG04228.hp2 NA18982.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0035 a0001c0001t0037 a0001c0001t0042 a0002c0002t0003	a0001c0001t0002g0003 a0001c0001t0002g0057 a0001c0001t0002g0058 others(25): Show a0001c0001t0002g0003 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0003g0004 a0001c0001t0003g0013 a0001c0001t0003g0061 a0001c0001t0003g0065 a0001c0001t0003g0119 a0001c0001t0003g0124 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0142 a0001c0001t0003g0146 a0001c0001t0003g0149 a0001c0001t0007g0120 a0001c0001t0035g0056 a0001c0001t0037g0128 a0001c0001t0042g0143 a0002c0002t0003g0113 a0002c0002t0003g0133	33	336	0.0982	169	c.293 others(186): Show c.293+4045_293+4046insTAAATATATATAATATATAAATATATAA TATATATAAATATATATAATATATAAATATATAATATATATAAATATATA TAATATATAAATATATAATATATATTATATATAAATATATATAATATATA AATATATAATATATATAAATATATATAATATATAAATATAT	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11			chr1	TogoVar
SLC35F3_chr1_233899676_234329511	234139995	A A	AAAATAAA others(162): Show AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	158	0.0063	169	c.284 others(188): Show c.284-91415_284-91414insATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAATAAA	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A4_chr8_141202174_141313288	141203228	G G	GGAAAGAG others(162): Show GGAAAGAGAGGGAGAGGGAGACCGTGGAGAGAGGGAGAGGGGAGAGGGAG AGGGAGACCGTGGAGAGAGGGAGAGGGAGAGGGAGACCGTGGAGAGAGAG AGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGTAGAGAGAGAGA GAGAGAGGGGAGACCGTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0164 a0002c0001t0003g0164	1	188	0.0053	169	c.83 others(180): Show c.8343_*8344insTCCACGGTCTCCCCTCTCTCTCTCTCTCTCTACT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCCACGG TCTCCCTCTCCCTCTCCCTCTCTCCACGGTCTCCCTCTCCCTCTCCCCTC TCCCTCTCTCCACGGTCTCCCTCTCCCTCTCTTTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3945		chr8	TogoVar
SLC7A10_chr19_33203664_33230850	33218682	T T	TTTCTTTC others(162): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	410	0.0024	169	c.152 others(186): Show c.152-2710_152-2709insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLIT3_chr5_168656740_169306139	168726512	G G	GGGAGGGA others(162): Show GGGAGGGAGAGGGAGGCAGGAGGGAGGGAGGGGGAGGGAGGCAGGGAGAG GGAGGCAAGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGAGGG AGGGAGAGGGAGGCAGGGAGAGAGGGAGGGAGAGGGAGGCAGGGAGGGAG AGGGACGCAGGGGGAGAGGT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0004 a0002c0012t0004	a0002c0012t0004g0031 a0002c0012t0004g0031	1	132	0.0076	169	c.227 others(188): Show c.2271-2029_2271-2028insACCTCTCCCCCTGCGTCCCTCTCCCT CCCTGCCTCCCTCTCCCTCCCTCTCTCCCTGCCTCCCTCTCCCTCCCTCT CCCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCCTCTCC CTGCCTCCCTCCCCCTCCCTCCCTCCTGCCTCCCTCTCCCTCC	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SLX9_chr21_44935029_44981973	44981536	C C	CCCTGCAC others(162): Show CCCTGCACACAGAGCCTGCGTGTGGTGTTCAGGGGGGACAGCGGGGCCTG GACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCACGGGGGACAGCG GGGCCTGGACGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGGGGGG ACAGCAGGGCCTGGACGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	334	0.0030	169	c.47 others(180): Show c.4733_*4734insCCTGCACACAGAGCCTGCGTGTGGTGTTCAGGGG GGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGT TCACGGGGGACAGCGGGGCCTGGACGGGCCCTGCACACAGAGCCTGCGTG TGGTGTTCAGGGGGGACAGCAGGGCCTGGACGGGG	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		4564		chr21	TogoVar
SMYD3_chr1_245744347_246512279	246072180	T T	TTAGTTCT others(162): Show TTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCGCTG CATCGTGTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTG TGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTG CTCACTGTCGCTGCATCGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA19030.hp2 NA20129.hp2 HG01243.hp2 NA19030.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0002 a0002c0004t0001 a0002c0003t0002 a0002c0004t0001	a0002c0003t0002g0145 a0002c0003t0002g0147 a0002c0004t0001g0126 a0002c0003t0002g0145 a0002c0003t0002g0147 a0002c0004t0001g0126	3	150	0.0200	169	c.532 others(190): Show c.532-142244_532-142243insCACGATGCAGCGACAGTGAGCACA GTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGT GAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTACACGATGCAGC GACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246072180	T T	TTAGTTCT others(162): Show TTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCGCTG CATCGTGTAGTTCTGGGGAGGGATTCGTGTGCTTTTCACTGTGCTCACTG TGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTG CTCACTGTCGCTGCATCGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00621.hp1 HG02015.hp1 others(7): Show HG00140.hp2 HG00621.hp1 HG02015.hp1 HG02071.hp2 HG02145.hp2 HG02486.hp2 HG02886.hp2 HG03491.hp1 HG03831.hp2 NA18747.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0063 a0001c0001t0001g0082 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0063 a0001c0001t0001g0082 a0001c0001t0002g0032 a0001c0001t0002g0039 a0001c0001t0002g0081 a0001c0002t0001g0062 a0001c0002t0002g0077 a0002c0003t0001g0108 a0002c0004t0001g0119	10	150	0.0667	169	c.532 others(190): Show c.532-142244_532-142243insCACGATGCAGCGACAGTGAGCACA GTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGT GAGCACAGTGAAAAGCACACGAATCCCTCCCCAGAACTACACGATGCAGC GACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNX9_chr6_157818246_157950077	157827544	T T	TTATAGTT others(162): Show TTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATA AATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATAT AATATATAAATATATATTATAGTTTATATAATATATAAATATATATTATA GTTTATATAATATATAAATA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0052 a0002c0002t0002g0052	1	302	0.0033	169	c.12+ others(184): Show c.12+4102_12+4103insGTTTATATAATATATAAATATATATTATAG TTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATATA TATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATA TAAATATATATTATAGTTTATATAATATATAAATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(162): Show CCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCCCACCACCCTCCC CCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTC CCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01175.hp2 HG01361.hp2 HG01123.hp2 HG01175.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0001g0003 a0001c0001t0002g0002	3	418	0.0072	169	c.54 others(180): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(162): Show CCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCCCACCACCCTCCC CCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTC CCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	418	0.0024	169	c.54 others(180): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(162): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCCCACCACCCTCCC CCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTC CCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	169	c.54 others(180): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(162): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCCCACCACCCTCCC CCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTC CCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	418	0.0024	169	c.54 others(180): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
STIMATE_chr3_52831733_52902548	52832637	G G	GAGGGAGA others(162): Show GAGGGAGAGGGGTTTTGAGGTCCCTGGTGCAGGCAGGGAGAGGGGTTTTG AGGTCCCTAGTGCAGTGCAGGGAGAGGGGTTTTGAGGTCCCTAGTGCAGT GCAGGGAGAGGGGTTTTGAGGTCCCTAGTGCAGTGCAGGGAGAGGGGTTT TGAGGTCCCTAGTGCAGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	334	0.0030	169	c.78 others(180): Show c.7856_*7857insGCACTGCACTAGGGACCTCAAAACCCCTCTCCCT GCACTGCACTAGGGACCTCAAAACCCCTCTCCCTGCACTGCACTAGGGAC CTCAAAACCCCTCTCCCTGCACTGCACTAGGGACCTCAAAACCCCTCTCC CTGCCTGCACCAGGGACCTCAAAACCCCTCTCCCT	STIMATE	ENSG00000213533.13	transcript	ENST00000355083.11	protein_coding		4095		chr3	TogoVar
TAFA5_chr22_48484553_48756932	48679326	C C	CCCGGCTC others(162): Show CCCGGCTCCCTGTCCATCCCTCTCCCGGCTCCCTGTCCATCCCTCTCCCG GCTCTGCGTCCATCCCTCTCCCGGCTCCCTGTCCATCCCTCTCCCGGCTC CCCGTCCATCCCTCTCCTGGCTCCCCAGCTCCCCGTCCATCCCTCTCCCG GCTCCCCATCCATCCCTCTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03017.hp1 HG03239.hp2 others(1): Show HG01261.hp2 HG03017.hp1 HG03239.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0001 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0064 a0001c0001t0001g0247 a0001c0001t0003g0089 others(1): Show a0001c0001t0001g0064 a0001c0001t0001g0247 a0001c0001t0003g0089 a0001c0001t0010g0242	4	258	0.0155	169	c.263 others(188): Show c.263-28382_263-28381insTGTCCATCCCTCTCCCGGCTCCCTGT CCATCCCTCTCCCGGCTCTGCGTCCATCCCTCTCCCGGCTCCCTGTCCAT CCCTCTCCCGGCTCCCCGTCCATCCCTCTCCTGGCTCCCCAGCTCCCCGT CCATCCCTCTCCCGGCTCCCCATCCATCCCTCTTCCGGCTCCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAOK1_chr17_29385363_29556903	29397672	T T	TATACATG others(162): Show TATACATGTATACATGTATATTCATGTATGATACATGTATACATGTATAC ATGTATATTCATGTATGATACATGTATACATGTATACATGTATATTCATG TATGATACATGTATACATGTATACATGTATATTCATGTATGATACATGTA TACATGTATATTCATGTATG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0074 a0001c0001t0032g0074	1	326	0.0031	169	c.-95 others(186): Show c.-95+6677_-95+6678insATACATGTATACATGTATACATGTATAT TCATGTATGATACATGTATACATGTATACATGTATATTCATGTATGATAC ATGTATACATGTATACATGTATATTCATGTATGATACATGTATACATGTA TATTCATGTATGATACATGTATACATGTATATTCATGTATG	TAOK1	ENSG00000160551.12	transcript	ENST00000261716.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBC1D22A_chr22_46757650_47180693	46772471	A A	ACGTATAC others(162): Show ACGTATACACACATATACATATATACGTATACACACATATACATATATAC GTATACACACATATACATATATACGTATACACACATATACATATATACGT ATACACACATATACATATATACGTATACACACATATACATATATACGTAT ACACACATATACATATATAC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	112	0.0089	169	c.62+ others(184): Show c.62+9623_62+9624insCGTATACACACATATACATATATACGTATA CACACATATACATATATACGTATACACACATATACATATATACGTATACA CACATATACATATATACGTATACACACATATACATATATACGTATACACA CATATACATATATACGTATACACACATATACATATATAC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12			chr22	TogoVar
TCF3_chr19_1604292_1657615	1627913	G G	GGGGGTGA others(162): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTC ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGG AAGGGGACAGCAGAACTCAT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG03516.hp1 HG02148.hp1 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0021 a0001c0004t0003 a0001c0004t0021	a0001c0004t0003g0279 a0001c0004t0021g0321 a0001c0004t0003g0279 a0001c0004t0021g0321	2	352	0.0057	169	c.299 others(184): Show c.299-488_299-487insATGAGTTCTGCTGTCCCCTTCCCGCCTCAC CCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCT GTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1627929	G G	GGGGACAG others(162): Show GGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCA CGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACAGGGGATGAGGCGGGA AGGGGACAGCAGAACTCACGGGGGGTGAGGCGGGAAGGGGACAGCAGAAC TCACGGGGTGAGGCGGGAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0075 a0001c0002t0075	a0001c0002t0075g0185 a0001c0002t0075g0185	1	352	0.0028	169	c.299 others(184): Show c.299-504_299-503insTTTCCCGCCTCACCCCGTGAGTTCTGCTGT CCCCTTCCCGCCTCACCCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCA TCCCCTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGC TGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1627948	G G	GGGGGTGA others(162): Show GGGGGTGAGGTGGGAAGGGGACAGCAGAACTCACAGGGGATGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGG AAGGGGACAGCAGAACTCAC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0023 a0001c0005t0023	a0001c0005t0023g0032 a0001c0005t0023g0032	1	352	0.0028	169	c.299 others(184): Show c.299-523_299-522insGTGAGTTCTGCTGTCCCCTTCCCGCCTCAC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCT GTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCA TCCCCTGTGAGTTCTGCTGTCCCCTTCCCACCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628020	G G	GTGAGGCG others(162): Show GTGAGGCGGGAAAGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGA CAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGG TGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGG ACAGCAGAACTCACGGGGGA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0148 a0003c0006t0001g0148	1	352	0.0028	169	c.299 others(184): Show c.299-595_299-594insTCCCCCGTGAGTTCTGCTGTCCCCTTCCCG CCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGC TCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCC GCCTCACCCCGTGAGTTCTGCTGTCCCTTTCCCGCCTCA	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628051	G G	GGGGGTGA others(162): Show GGGGGTGAGGCGGGAAAGGGACAGCAGAACTCACGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTC ACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp2 HG00642.hp1 HG01099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0008 a0001c0004t0003 a0001c0004t0008	a0001c0004t0003g0099 a0001c0004t0008g0100 a0001c0004t0003g0099 a0001c0004t0008g0100	2	352	0.0057	169	c.299 others(184): Show c.299-626_299-625insGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCCTGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCT GTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCGTGAGTTCTGCTGTCCCTTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628084	C C	CGGGGTGA others(162): Show CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACGGGGATGAGGCGGGAAGGGGACAGCAGAACTCA CAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0011 a0001c0005t0004g0011	1	352	0.0028	169	c.299 others(184): Show c.299-659_299-658insTGTGAGCTCTGCTGTCCCCTTCCCGCCTCA CCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGTTCTGC TGTCCCCTTCCCGCCTCATCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628153	C C	CGGGGGTG others(162): Show CGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAACT CACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGTGGGA AGGGGACAGCAGAGCTCACG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0054 a0002c0001t0054	a0002c0001t0054g0157 a0002c0001t0054g0157	1	352	0.0028	169	c.299 others(184): Show c.299-728_299-727insCGTGAGCTCTGCTGTCCCCTTCCCACCTCA CCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTG TCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628249	G G	ACTCACGG others(162): Show ACTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGG CGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAG GCGGGAAGGGGACAGCAGAG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0331 a0001c0003t0005g0331	1	352	0.0028	169	c.299 others(184): Show c.299-823_299-822insTCTGCTGTCCCCTTCCCGCCTCACCCCGTG AGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCC TTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCG TGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628255	G G	GGGGTGAG others(162): Show GGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGTGGGAAG GGGACAGCAGAGCTCACAGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCA TGGGGATGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGGTGAGGCGGG AAAGGGACAGCAGAACTCAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0161 a0001c0002t0032g0161	1	352	0.0028	169	c.299 others(184): Show c.299-830_299-829insGTGAGTTCTGCTGTCCCTTTCCCGCCTCAC CCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCATCCCCATGAGCTCTGC TGTCCCCTTCCCGCCCCACCCCTGTGAGCTCTGCTGTCCCCTTCCCACCT CACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628321	C C	CGGGGTGA others(162): Show CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGAGGCGGGAA GGGGACAGCAGAACTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACT CACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0047 a0001c0005t0047	a0001c0005t0047g0042 a0001c0005t0047g0042	1	352	0.0028	169	c.299 others(184): Show c.299-896_299-895insTGAGCTCTGCTGTCCCCTTCCCGCCTCACC CCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTG TCCCCTTCCCGCCTCACCCCCTGTGAGTTCTGCTGTCCCCTTCCCGCCTC ATCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628449	G G	GCAGAGCT others(162): Show GCAGAGCTCACAGGGGTGAGGCGGGAAAGGGACAGCAGAACTCACGGGGT GAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGA CAGCAGAGCTCACAGGGGTGAGGCGGGAAAGGGACAGCAGAACTCACGGG GTGAGGTGGGAAGGGGACAC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02683.hp1 HG01943.hp2 HG02683.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0096 a0001c0003t0002g0247 a0001c0003t0001g0096 a0001c0003t0002g0247	2	352	0.0057	169	c.299 others(186): Show c.299-1024_299-1023insGTGTCCCCTTCCCACCTCACCCCGTGAG TTCTGCTGTCCCTTTCCCGCCTCACCCCTGTGAGCTCTGCTGTCCCCTTC CCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTG AGTTCTGCTGTCCCTTTCCCGCCTCACCCCTGTGAGCTCTG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628599	G G	GGGGATGA others(162): Show GGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAA GGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTC ACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCATGGGGATGGGGCGGG AAGGGGACAGCAGAGCTCAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0330 a0001c0002t0005g0330	1	352	0.0028	169	c.299 others(186): Show c.299-1174_299-1173insGTGAGCTCTGCTGTCCCCTTCCCGCCCC ATCCCCATGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTG CTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCC CCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628639	A A	AGGCGGGA others(162): Show AGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAG CAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGAT GAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACA GCAGAACTCACAGGGGATGG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0075 a0001c0002t0075	a0001c0002t0075g0185 a0001c0002t0075g0185	1	352	0.0028	169	c.299 others(186): Show c.299-1214_299-1213insCCATCCCCTGTGAGTTCTGCTGTCCCCT TCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTG TGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCC TTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628673	G G	GAGGCGGG others(162): Show GAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGAC AGTAGAGCTCACGGGGATGAGGCGGGAAGGGGACAGCAGAACTCACGGGG TGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGAC AGCAGAGCTCACAGGGGGTA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0219 a0001c0002t0002g0219	1	352	0.0028	169	c.299 others(186): Show c.299-1248_299-1247insTACCCCCTGTGAGCTCTGCTGTCCCCTT CCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGA GTTCTGCTGTCCCCTTCCCGCCTCATCCCCGTGAGCTCTACTGTCCCCTT CCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar

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