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
TMC6_chr17_78102397_78133755	78115614	G G	GAGGGGCG others(245): Show GAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGG CAC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0003 a0005c0004t0003	a0005c0004t0003g0222 a0005c0004t0003g0222	1	444	0.0023	252	c.227 others(271): Show c.2277+1654_2277+1655insGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCAC TCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCG CCCCTGTGCCCACTCCCTTCGCCCCT	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(245): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0292 a0001c0001t0012g0292	1	444	0.0023	252	c.227 others(271): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(245): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG03704.hp1 HG02155.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0076 a0001c0001t0001 a0001c0001t0076	a0001c0001t0001g0155 a0001c0001t0076g0295 a0001c0001t0001g0155 a0001c0001t0076g0295	2	444	0.0045	252	c.227 others(271): Show c.2277+1399_2277+1650dupCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115639	G G	GGCGAAGG others(245): Show GGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0241 a0001c0005t0001g0241	1	444	0.0023	252	c.227 others(271): Show c.2277+1629_2277+1630insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCTCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115639	G G	GGCGAAGG others(245): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0429 a0001c0001t0003g0429	1	444	0.0023	252	c.227 others(271): Show c.2277+1629_2277+1630insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115723	G G	GGCGAAGG others(245): Show GGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0073 a0002c0002t0002g0073	1	444	0.0023	252	c.227 others(271): Show c.2277+1545_2277+1546insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCTCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115765	G G	GGCGAAGG others(245): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0337 a0001c0001t0001g0337	1	444	0.0023	252	c.227 others(271): Show c.2277+1503_2277+1504insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115849	G G	GGCGAAGG others(245): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0376 a0003c0003t0001g0376	1	444	0.0023	252	c.227 others(271): Show c.2277+1419_2277+1420insTCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115891	G G	GGCGAAGG others(245): Show GGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0068 a0002c0002t0002g0068	1	444	0.0023	252	c.227 others(271): Show c.2277+1377_2277+1378insTCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCC TTCGCTCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMEM117_chr12_43831081_44394758	44093767	T T	TGAGAAAA others(245): Show TGAGAAAATTGATCTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCTTCCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	110	0.0091	252	c.411 others(271): Show c.411-49739_411-49738insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCTTCCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCGAGAAAATTGATCTTTCTT	TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121748026	G G	GGTAGAAG others(245): Show GGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAG GTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGACA CTGAAGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGG TAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGT GGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGACACT GAA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0098 a0001c0001t0022g0098	1	314	0.0032	252	c.189 others(267): Show c.189-284_189-283insTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG ACACTGAAGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGAC ACTGAAGTAGAAGGTGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121748187	G G	GCTGGGGT others(245): Show GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03579.hp1 HG02451.hp2 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0009 a0002c0002t0016g0286 a0002c0002t0016g0009 a0002c0002t0016g0286	2	314	0.0064	252	c.189 others(267): Show c.189-118_189-117insACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM179_chr14_104585864_104609772	104603533	A A	AGTGGGTG others(245): Show AGTGGGTGGGTTCACAGAGGGAGTGGGTGGGTTCACAGAGGGGGTGGGTG GGTTCACAGAGGGGGTGGGTGGGTTCACAGAGGGGGTGGGTGGGCTCACA GAGGGGGTGGGTGGGCTCACAGAGGGAGTGGGTGGGTTCACAGAGGGAGT GGGTGGGTTCACAGAGGGGGTGGGTGGGCTCACAGAGGGGGTGGGTGGGC TCACAGAGGGAGTGGGTGGGTTCACAGAGGGAGTGGGTGGGTTCACAGAG GGG	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA19086.hp1 NA18990.hp2 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0090 a0001c0002t0005g0116 a0001c0002t0005g0090 a0001c0002t0005g0116	2	407	0.0049	252	c.305 others(267): Show c.305+903_305+904insCCCCTCTGTGAACCCACCCACTCCCTCTGT GAACCCACCCACTCCCTCTGTGAGCCCACCCACCCCCTCTGTGAGCCCAC CCACCCCCTCTGTGAACCCACCCACTCCCTCTGTGAACCCACCCACTCCC TCTGTGAGCCCACCCACCCCCTCTGTGAGCCCACCCACCCCCTCTGTGAA CCCACCCACCCCCTCTGTGAACCCACCCACCCCCTCTGTGAACCCACCCA CTCCCTCTGTGAACCCACCCAC	TMEM179	ENSG00000258986.7	transcript	ENST00000556573.6	protein_coding	1/3			chr14	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(245): Show TTATATATAAATATATATTCTTTTATATATTTATATATAAATATATATTC TTTTATATATTTATATATAAATATATATTTTTATATATTTATATATAAAT ATATATTCTTTTATATATTTATATATATATTTATATATAAATATATATTC TTTTATATATATATAAATATATATTCTTTTATATATTTATATATAAATAT ATATTCTTTTATATATTTATATATAAATATATATTCTTTTATATATTTAT ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	348	0.0029	252	c.11 others(265): Show c.11218_*11219insTATATAAATATATAAAAGAATATATATTTATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGAATA TATATTTATATATATATAAAAGAATATATATTTATATATAAATATATATA TAAATATATAAAAGAATATATATTTATATATAAATATATAAAAATATATA TTTATATATAAATATATAAAAGAATATATATTTATATATAAATATATAAA AGAATATATATTTATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(245): Show TTATATATAAATATATATTCTTTTATATATTTATATATAAATATATATTT TTATATATTTATATATAAATATATATTCTTTTATATATTTATATATATAT TTATATATAAATATATATTCTTTTATATATTTATATATAAATATATATTC TTTTATATATTTATATATAAATATACTTTTATATATTTATATATAAATAT ATATTCTTTTATATATTTATATATAAATATATATTCTTTTATATATTTAT ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02155.hp1 HG03195.hp1 others(4): Show HG00639.hp1 HG02155.hp1 HG03195.hp1 HG03209.hp1 HG03471.hp1 NA18522.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0028 a0001c0001t0002 a0001c0001t0015 a0001c0001t0028	a0001c0001t0002g0181 a0001c0001t0015g0007 a0001c0001t0015g0232 others(3): Show a0001c0001t0002g0181 a0001c0001t0015g0007 a0001c0001t0015g0232 a0001c0001t0015g0233 a0001c0001t0015g0234 a0001c0001t0028g0165	7	348	0.0201	252	c.11 others(265): Show c.11218_*11219insTATATAAATATATAAAAGAATATATATTTATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGTATA TTTATATATAAATATATAAAAGAATATATATTTATATATAAATATATAAA AGAATATATATTTATATATAAATATATATATAAATATATAAAAGAATATA TATTTATATATAAATATATAAAAATATATATTTATATATAAATATATAAA AGAATATATATTTATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(245): Show TTATATATAAATATATATTCTTTTATATATTTATATATAAATATATATTT TTATATATTTATATATAAATATATATTTTTATATATTTATATATAAATAT ATATTCTTTTATATATTTATATATATATTTATATATAAATATATATTCTT TTATATATATATATAAATATATATTCTTTTATATATTTATATATAAATAT ATATTCTTTTATATATTTATATATAAATATATATTCTTTTATATATTTAT ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp1 NA19006.hp2 NA18956.hp1 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0268 a0001c0001t0031g0272 a0001c0001t0031g0268 a0001c0001t0031g0272	2	348	0.0058	252	c.11 others(265): Show c.11218_*11219insTATATAAATATATAAAAGAATATATATTTATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGAATA TATATTTATATATATATATAAAAGAATATATATTTATATATAAATATATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAATATA TATTTATATATAAATATATAAAAATATATATTTATATATAAATATATAAA AGAATATATATTTATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(245): Show TTATATATAAATATATATTTTTATATATTTATATATAAATATATATTCTT TTATATATTTATATATATATTTATATATAAATATATATTCTTTTATATAT TTATATATAAATATATATTCTTTTATATATTTATATATAAATATACTTTT ATATATTTATATATAAATATATATTCTTTTATATATTTATATATAAATAT ATATTCTTTTATATATTTATATATAAATATATATTCTTTTATATATTTAT ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	348	0.0029	252	c.11 others(265): Show c.11218_*11219insTATATAAATATATAAAAGAATATATATTTATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGAATA TATATTTATATATAAATATATAAAAGTATATTTATATATAAATATATAAA AGAATATATATTTATATATAAATATATAAAAGAATATATATTTATATATA AATATATATATAAATATATAAAAGAATATATATTTATATATAAATATATA AAAATATATATTTATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TMPRSS9_chr19_2355265_2431261	2418967	C C	CCCTCCCT others(245): Show CCCTCCCTTTCCTTTCCTCCCTCCCTCCCTTTCCTTCCCTCTCCTCCCTT TCCTTCCCTCTCCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCCT TCCCTTCCCTCCCTCCGTTTCCTTTCCTCTCTCCCTTTCCTTCCCTTCCC TCCCTCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCC GCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCACCG TCT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	114	0.0088	252	c.215 others(269): Show c.2154+832_2154+833insCCCTTTCCTTTCCTCCCTCCCTCCCTTT CCTTCCCTCTCCTCCCTTTCCTTCCCTCTCCTCCCTCCCTTTCCTTCCCT TCCCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCGTTTCCTTTCCTCTCT CCCTTTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCGCCCT CTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCC TTCCCTTCCCTCCCACCGTCTCCT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMTC2_chr12_82681906_83139866	82997352	A A	ATATATAT others(245): Show ATATATATATATATGTGTATATATATATGTGTATATATATATGTGTGTAT ATATATATATGTGTATATATATATGTGTGTATATATATATGTGTATATAT ATATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGT ATATATATATGTGTATATATATATGTGTATATATATATGTGTATATATAT ATGTGTATATATATATATGTGTATATATATATATGTGTATATATATATAT GTG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	96	0.0104	252	c.207 others(273): Show c.2070+11333_2070+11334insGTGTATATATATATGTGTGTATAT ATATATATGTGTATATATATATGTGTGTATATATATATGTGTATATATAT ATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGTAT ATATATATGTGTATATATATATGTGTATATATATATGTGTATATATATAT GTGTATATATATATATGTGTATATATATATATGTGTATATATATATATGT GTATATATATATATGTGTATATATATAT	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TNNT1_chr19_55127698_55154206	55134791	A A	AGGGGAGG others(245): Show AGGGGAGGGGAGAAGAGGGGAGGAGAGCGGAGAAGAGGGGAGGAGAGGGG AGGGCAGAAGACGGGAGGGGAGAAGAGGGGAGGAGAGGGGATGGGAAAAT AGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGGAGAGAAGAGGGG AGGGGAGGGGAGGAAAGGGGAGGGGAGGAGAGAAGAGGGGAGGGGAGGGG AGGAAAGGGGAGGAAAGGGGAGGGGAGAAGAGGGGAGGGGAGAAGAGGGG GAG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	320	0.0031	252	c.612 others(267): Show c.612-588_612-587insCTCCCCCTCTTCTCCCCTCCCCTCTTCTCC CCTCCCCTTTCCTCCCCTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCC CCTCCCCTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCTCCTCC CCTCTCCTCCCCTCCCCTCCCCTATTTTCCCATCCCCTCTCCTCCCCTCT TCTCCCCTCCCGTCTTCTGCCCTCCCCTCTCCTCCCCTCTTCTCCGCTCT CCTCCCCTCTTCTCCCCTCCCC	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	11/13			chr19	TogoVar
TNNT1_chr19_55127698_55154206	55134791	A A	AGGGGAGG others(245): Show AGGGGAGGGGAGAAGAGGGGAGGAGAGCGGAGAAGAGGGGAGGAGAGGGG AGGGCAGAAGACGGGAGGGGAGAAGAGGGGAGGAGAGGGGATGGGAAAAT AGGGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGGAGAGAAG AGGGGAGGGGAGGGGAGGAAAGGGGAGGGGAGGAGAGAAGAGGGGAGGGG AGGGGAGGAAAGGGGAGGAAAGGGGAGGGGAGAAGAGGGGAGGGGAGAAG AGG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	320	0.0031	252	c.612 others(267): Show c.612-588_612-587insCCTCTTCTCCCCTCCCCTCTTCTCCCCTCC CCTTTCCTCCCCTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCC CCTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCTCCTCCCCTCT CCTCCCCTCCCCTCCCCTCCCCTATTTTCCCATCCCCTCTCCTCCCCTCT TCTCCCCTCCCGTCTTCTGCCCTCCCCTCTCCTCCCCTCTTCTCCGCTCT CCTCCCCTCTTCTCCCCTCCCC	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	11/13			chr19	TogoVar
TNNT1_chr19_55127698_55154206	55134791	A A	AGGGGAGG others(245): Show AGGGGAGGGGAGAAGAGGGGAGGAGAGCGGAGAAGAGGGGAGGAGAGGGG AGGGCAGAAGACGGGAGGGGAGAAGAGGGGAGGAGAGGGGATGGGAAAAT AGGGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGGAGAGAAG AGGGGAGGGGAGGGGAGGAAAGGGGAGGGGAGGAGAGAAGAGGGGAGGGG AGGGGAGGAAAGGGGAGGAAAGGGGAGGGGAGAAGAGGGGAGGGGGAGAA GAG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	320	0.0031	252	c.612 others(267): Show c.612-588_612-587insCTCTTCTCCCCCTCCCCTCTTCTCCCCTCC CCTTTCCTCCCCTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCC CCTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCTCCTCCCCTCT CCTCCCCTCCCCTCCCCTCCCCTATTTTCCCATCCCCTCTCCTCCCCTCT TCTCCCCTCCCGTCTTCTGCCCTCCCCTCTCCTCCCCTCTTCTCCGCTCT CCTCCCCTCTTCTCCCCTCCCC	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	11/13			chr19	TogoVar
TNNT1_chr19_55127698_55154206	55134791	A A	AGGGGAGG others(245): Show AGGGGAGGGGAGAAGAGGGGAGGAGAGCGGAGAAGAGGGGAGGAGAGGGG AGGGCAGAAGACGGGAGGGGAGAAGAGGGGAGGAGAGGGGATGGGAAAAT AGGGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGGAGAGAAG AGGGGAGGGGAGGGGAGGAAAGGGGAGGGGAGGAGAGAAGAGGGGAGGGG AGGGGAGGAAAGGGGAGGAAAGGGGAGGGGGAGAAGAGGGGAGGGGAGAA GAG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	320	0.0031	252	c.612 others(267): Show c.612-588_612-587insCTCTTCTCCCCTCCCCTCTTCTCCCCCTCC CCTTTCCTCCCCTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCC CCTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCTCCTCCCCTCT CCTCCCCTCCCCTCCCCTCCCCTATTTTCCCATCCCCTCTCCTCCCCTCT TCTCCCCTCCCGTCTTCTGCCCTCCCCTCTCCTCCCCTCTTCTCCGCTCT CCTCCCCTCTTCTCCCCTCCCC	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	11/13			chr19	TogoVar
TNNT1_chr19_55127698_55154206	55134794	G G	GGAGGGGA others(245): Show GGAGGGGAGAAGAGGGGAGGAGAGCGGAGAAGAGGGGAGGAGAGGGGAGG GCAGAAGACGGGAGGGGAGAAGAGGGGAGGAGAGGGGATGGGAAAATAGG GGAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGGAGAGAAGAGG GGAGGGGAGGGGAGGAAAGGGGAGGGGAGGAGAGAAGAGGGGAGGGGAGG GGAGGAAAGGGGAGGAAAGGGGAGGGGAGAAGAGGGGAGGGGAGAAGAGG GGA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	320	0.0031	252	c.612 others(267): Show c.612-591_612-590insTCCCCTCTTCTCCCCTCCCCTCTTCTCCCC TCCCCTTTCCTCCCCTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCC TCCCCTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCTCCTCCCC TCTCCTCCCCTCCCCTCCCCTCCCCTATTTTCCCATCCCCTCTCCTCCCC TCTTCTCCCCTCCCGTCTTCTGCCCTCCCCTCTCCTCCCCTCTTCTCCGC TCTCCTCCCCTCTTCTCCCCTC	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	11/13			chr19	TogoVar
TOLLIP_chr11_1269371_1314632	1287409	G G	GCCTCCCC others(245): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCC GCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGC CTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGC CGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCT CCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCG CAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0221 a0001c0002t0002g0221	1	348	0.0029	252	c.519 others(269): Show c.519+1214_519+1215insGTGCGGCGGGGAGGCTGCGGCGGGGAGG CTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCG GGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCT GCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGG GAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGC GGCGGGGAGGCTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287409	G G	GCCTCCCC others(245): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCGCCCTCCCCGCCGCGCCCTCCCC GCCGCGCCCTCCCCGCCGCGCCCTCCCCGCCGCGCCCTCCCCGCCGCGCC CTCCCCGCCGCGCCCTCCCCGCCGCGCCCTCCCCGCCGCGCCCTCCCCGC CGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCT CCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCG CAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0009 a0003c0004t0009	a0003c0004t0009g0018 a0003c0004t0009g0018	1	348	0.0029	252	c.519 others(269): Show c.519+1214_519+1215insGTGCGGCGGGGAGGCTGCGGCGGGGAGG CTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCG GGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGCGCGGCGGGGAGGGC GCGGCGGGGAGGGCGCGGCGGGGAGGGCGCGGCGGGGAGGGCGCGGCGGG GAGGGCGCGGCGGGGAGGGCGCGGCGGGGAGGGCGCGGCGGGGAGGGCGC GGCGGGGAGGCTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287437	G G	GCCTCCCC others(245): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACC CTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGC CGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCT CCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCG CAC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0127 a0001c0002t0007g0127	1	348	0.0029	252	c.519 others(269): Show c.519+1186_519+1187insGTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCG GGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCT GCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGG GAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGC GGCGGGGAGGCTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287619	G G	GCCTCCCC others(245): Show GCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACC CTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGC CGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCT CCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCG CAC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0212 a0001c0002t0003g0212	1	348	0.0029	252	c.519 others(269): Show c.519+1004_519+1005insGTGCGGCGGGGAGGGTGCGGCGGGGAGG CTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCG GGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCT GCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGG GAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGC GGCGGGGAGGGTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287633	G G	GCCTCCCC others(245): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCTCCGCCGCAGCCTCCCC GCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGC CTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGC CGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCT CCCCGCCGCAGCCTCACCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCG CAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	348	0.0029	252	c.519 others(267): Show c.519+990_519+991insGTGCGGCGGGGAGGCTGCGGCGGGGAGGCT GCGGCGGTGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGG GAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGC GGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGA GGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGAGAGGGTGCGG CGGGGAGGCTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287836	C C	CGCCGCAC others(245): Show CGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAC CCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCG CCCCACCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCCCACCC TCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCC GCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCTGCCGCACCCTC TCT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0154 a0001c0002t0002g0154	1	348	0.0029	252	c.519 others(267): Show c.519+787_519+788insAGAGAGGGTGCGGCAGGGAGGGTGCGGCGG GGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTG CGGCGGGGAGGGTGCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCAGAG AGGGTGCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCGGGGAGGCTGCG GCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAG GGTGCGGCGGGGAGGGTGCGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287836	C C	CGCCGCAG others(245): Show CGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAG CCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCG CCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCC TCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCC GCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTC CCT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0214 a0001c0002t0002g0214	1	348	0.0029	252	c.519 others(267): Show c.519+787_519+788insAGGGAGGCTGCGGCAGAGAGGGTGCGGCGG GGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTG CGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGG AGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCG GCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAG GGTGCGGCGGGGAGGCTGCGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TPD52_chr8_80029745_80176564	80072632	C C	CGTGTATA others(245): Show CGTGTATATACATGTACACATAGATATGCGTGTATATACATGTACACATA GATATGCGTGTATATACATGTACACATAGATATGCGTGTATATACATGTA CACATAGATATGCGTGTATATACATGTACACATAGATATGCGTGTATATA CATGTACACATAGATATGCGTGTATATACATGTACACATAGATATGCGTG TATATACATGTACACATAGATATGCGTGTATATACATGTACACATAGATA TGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	228	0.0044	252	c.20- others(267): Show c.20-8040_20-8039insACATATCTATGTGTACATGTATATACACGC ATATCTATGTGTACATGTATATACACGCATATCTATGTGTACATGTATAT ACACGCATATCTATGTGTACATGTATATACACGCATATCTATGTGTACAT GTATATACACGCATATCTATGTGTACATGTATATACACGCATATCTATGT GTACATGTATATACACGCATATCTATGTGTACATGTATATACACGCATAT CTATGTGTACATGTATATACAC	TPD52	ENSG00000076554.16	transcript	ENST00000518937.6	protein_coding	1/7			chr8	TogoVar
TPSB2_chr16_1223336_1235184	1231427	C C	CCCCAGCC others(245): Show CCCCAGCCCAGCTCCCCATGGACTAGTCGCAGCCCCCGGCCCCAGCTCCC CATGGTCTCACCCCCAGCTCCCCATGGACTAGTCCCAGCCCCAGCCCAGC TCCCCATGGTCTCACCCCCAGCCCCAGCCCAGCTCCCCATGGACTAGTCC CAGCCCCCGGCCCCAGCTCCCCATGGTCTCACCCCCAGCTCCAGCCCAGC TCCCCATGGACTAGTCCCAGCCCCAGCCCAGCTCCCCATGGTCTCACCCC CAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	344	0.0029	252	c.-12 others(263): Show c.-1267_-1266insCTGGGGGTGAGACCATGGGGAGCTGGGCTGGGGC TGGGACTAGTCCATGGGGAGCTGGGCTGGAGCTGGGGGTGAGACCATGGG GAGCTGGGGCCGGGGGCTGGGACTAGTCCATGGGGAGCTGGGCTGGGGCT GGGGGTGAGACCATGGGGAGCTGGGCTGGGGCTGGGACTAGTCCATGGGG AGCTGGGGGTGAGACCATGGGGAGCTGGGGCCGGGGGCTGCGACTAGTCC ATGGGGAGCTGGGCTGGG	TPSB2	ENSG00000197253.14	transcript	ENST00000606293.5	protein_coding		1244		chr16	TogoVar
TRIM49D1_chr11_89906409_89927245	89909246	A A	ATTTTATG others(245): Show ATTTTATGTAAAATATAAATATATAAATATTTGTATATTATATATTTATA TAAAATATAAATATACAAATATTTGTATATTTATATTTATATAAAATATA AATATACAAATATTTGTATATTATATATTTATATAAAATATAAATATACA AATATTTGTATATTATATATTTATATAAAATATAAATATATAAATATTTG TATATTATATATTTATATAAAATATAAATATATAAATATTTGTATATTTA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00438.hp2 others(15): Show HG00140.hp1 HG00323.hp2 HG00438.hp2 HG01109.hp1 HG01256.hp2 HG01257.hp1 HG01358.hp1 HG01928.hp2 HG01943.hp2 HG01981.hp2 HG02165.hp2 HG02273.hp2 HG02300.hp2 NA18747.hp2 NA18945.hp2 NA18946.hp1 NA18952.hp1 NA18982.hp2	a0001 a0010 a0001 a0010	a0001c0003 a0010c0009 a0001c0003 a0010c0009	a0001c0003t0001 a0010c0009t0001 a0001c0003t0001 a0010c0009t0001	a0001c0003t0001g0006 a0001c0003t0001g0013 a0001c0003t0001g0023 others(9): Show a0001c0003t0001g0006 a0001c0003t0001g0013 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0090 a0001c0003t0001g0091 a0001c0003t0001g0092 a0010c0009t0001g0089	18	208	0.0865	252	c.23 others(263): Show c.2340_*2341insATATAAATATACAAATATTTATATATTTATATTT TATATAAATATATAATATACAAATATTTATATATTTATATTTTATATAAA TATATAATATACAAATATTTGTATATTTATATTTTATATAAATATATAAT ATACAAATATTTGTATATTTATATTTTATATAAATATAAATATACAAATA TTTGTATATTTATATTTTATATAAATATATAATATACAAATATTTATATA TTTATATTTTACATAAAA	TRIM49D1	ENSG00000223417.9	transcript	ENST00000420869.3	protein_coding		2162		chr11	TogoVar
TRIM49D1_chr11_89906409_89927245	89909246	A A	ATTTTATG others(245): Show ATTTTATGTAAAATATAAATATATAAATATTTGTATATTATATTTTATAT AAAATATAAATATACAAATATTTGTATATTATATATTTATATAAAATATA AATATACAAATATTTGTATATTATATATTTATATAAAATATAAATATACA AATATTTGTATATTATATATTTATATAAAATATAAATATATAAATATTTG TATATTTATATTTTATATAAAATATAAATATATAAATATTTGTATATTTA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG03579.hp2 HG01884.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0069 a0002c0002t0001g0070	2	208	0.0096	252	c.23 others(263): Show c.2340_*2341insATATAAATATACAAATATTTATATATTTATATTT TATATAAAATATAAATATACAAATATTTATATATTTATATTTTATATAAA TATATAATATACAAATATTTGTATATTTATATTTTATATAAATATATAAT ATACAAATATTTGTATATTTATATTTTATATAAATATATAATATACAAAT ATTTGTATATTTATATTTTATATAAAATATAATATACAAATATTTATATA TTTATATTTTACATAAAA	TRIM49D1	ENSG00000223417.9	transcript	ENST00000420869.3	protein_coding		2162		chr11	TogoVar
TRIM49D1_chr11_89906409_89927245	89909297	A A	AAATATAA others(245): Show AAATATAAATATACAAATATTTGTATATTATATATTTATATAAAATATAA ATATACAAATATCTGTATATTATATATTTATATAAAATATAAATATATAA ATATTTGTATATTATATATTTATATAAAATATAAATATATAAATATTTGT ATATTTATATTTTATATAAAATATAAATATATAAATATTTGTATATTTAT ATTTTATATAAAATATAAATATATAAATATTTGTATATTTGTATTTTATA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	208	0.0048	252	c.22 others(263): Show c.2289_*2290insATATATAAAATACAAATATACAAATATTTATATA TTTATATTTTATATAAAATATAAATATACAAATATTTATATATTTATATT TTATATAAAATATAAATATACAAATATTTATATATTTATATTTTATATAA ATATATAATATACAAATATTTATATATTTATATTTTATATAAATATATAA TATACAGATATTTGTATATTTATATTTTATATAAATATATAATATACAAA TATTTGTATATTTATATT	TRIM49D1	ENSG00000223417.9	transcript	ENST00000420869.3	protein_coding		2111		chr11	TogoVar
TRIM49D1_chr11_89906409_89927245	89909297	A A	AAATATAA others(245): Show AAATATAAATATACAAATATTTGTATATTATATATTTATATAAAATATAA ATATACAAATATTTGTATATTATATATTTATATAAAATATAAATATATAA ATATTTGTATATTATATATTTATATAAAATATAAATATATAAATATTTGT ATATTTATATTTTATATAAAATATAAATATATAAATATTTGTATATTTAT ATTTTATATAAAATATAAATATATAAATATTTGTATATTTGTATTTTATA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01361.hp2 HG02004.hp2 others(10): Show HG01123.hp1 HG01361.hp2 HG02004.hp2 HG02083.hp1 HG02165.hp1 HG02273.hp1 HG03669.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18971.hp2 NA19011.hp2 NA19062.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0027 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 a0003c0004t0001g0014 a0003c0004t0001g0115	13	208	0.0625	252	c.22 others(263): Show c.2289_*2290insATATATAAAATACAAATATACAAATATTTATATA TTTATATTTTATATAAAATATAAATATACAAATATTTATATATTTATATT TTATATAAAATATAAATATACAAATATTTATATATTTATATTTTATATAA ATATATAATATACAAATATTTATATATTTATATTTTATATAAATATATAA TATACAAATATTTGTATATTTATATTTTATATAAATATATAATATACAAA TATTTGTATATTTATATT	TRIM49D1	ENSG00000223417.9	transcript	ENST00000420869.3	protein_coding		2111		chr11	TogoVar
TRIM49D1_chr11_89906409_89927245	89909297	A A	AAATATAA others(245): Show AAATATAATATACAAATATTTGTATATTATATATTTATATAAAATATAAA TATACAAATATTTGTATATTATATATTTATATAAAATATAAATATATAAA TATTTGTATATTATATATTTATATAAAATATAAATATATAAATATTTGTA TATTTATATTTTATATAAAATATAAATATATAAATATTTGTATATTTATA TTTTATATAAAATATAAATATATAAATATTTGTATATTATGTATTTTATA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	208	0.0096	252	c.22 others(263): Show c.2289_*2290insATATATAAAATACATAATATACAAATATTTATAT ATTTATATTTTATATAAAATATAAATATACAAATATTTATATATTTATAT TTTATATAAAATATAAATATACAAATATTTATATATTTATATTTTATATA AATATATAATATACAAATATTTATATATTTATATTTTATATAAATATATA ATATACAAATATTTGTATATTTATATTTTATATAAATATATAATATACAA ATATTTGTATATTATATT	TRIM49D1	ENSG00000223417.9	transcript	ENST00000420869.3	protein_coding		2111		chr11	TogoVar
TRIM49D1_chr11_89906409_89927245	89909297	A A	AATATAAA others(245): Show AATATAAATATACAAATATTTGTATATTATATATTTATATAAAATATAAA TATACAAATATTTGTATATTATATATTTATATAAAATATAAATATATAAA TATTTGTATATTATATATTTATATAAAATATAAATATATAAATATTTGTA TATTTATATTTTATATAAAATATAAATATATAAATATTTGTATATTTATA TTTTATATAAAATATAAATATATAAATATTTGTATATTATGTATTTTATA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(63): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00639.hp2 HG00735.hp2 HG00741.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01243.hp2 HG01358.hp2 HG01891.hp2 HG01981.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02132.hp1 HG02155.hp1 HG02257.hp1 HG02258.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02738.hp1 HG02886.hp1 HG02895.hp2 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG04204.hp2 NA18747.hp1 NA18906.hp2 NA18946.hp2 NA18949.hp2 NA18960.hp2 NA18969.hp1 NA18971.hp1 NA18975.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA19030.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19240.hp2 NA20805.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0006c0010 a0001c0001 a0006c0008 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0006c0008t0002 a0006c0010t0002	a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 others(30): Show a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0016 a0001c0001t0002g0029 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0008g0035 a0001c0001t0009g0036 a0006c0008t0002g0116 a0006c0010t0002g0122	66	208	0.3173	252	c.22 others(263): Show c.2289_*2290insATATATAAAATACATAATATACAAATATTTATAT ATTTATATTTTATATAAAATATAAATATACAAATATTTATATATTTATAT TTTATATAAAATATAAATATACAAATATTTATATATTTATATTTTATATA AATATATAATATACAAATATTTATATATTTATATTTTATATAAATATATA ATATACAAATATTTGTATATTTATATTTTATATAAATATATAATATACAA ATATTTGTATATTTATAT	TRIM49D1	ENSG00000223417.9	transcript	ENST00000420869.3	protein_coding		2111		chr11	TogoVar
TRPC4AP_chr20_34997404_35097807	35097487	A A	ATGTGTGT others(245): Show ATGTGTGTATATACATATATACATATACACATGTGTGTATATACATATAT ACATATACACACGTGTGTGTATATATACATATACACACGTGCGTGTATAT ACATATACACGCGTGCGTATATATACATATACACGCGTGCGTATATACAT ATACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATAT ACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATAC ACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0250 a0001c0001t0003g0250	1	334	0.0030	252	c.-47 others(263): Show c.-4707_-4706insCGTGTATATGTATATATACGCACGCGTGTATATG TATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATATGTA TATATACGCACGCGTGTATATGTATATACGCACGCGTGTATATGTATATA TACGCACGCGTGTATATGTATATACACGCACGTGTGTATATGTATATATA CACACACGTGTGTATATGTATATATGTATATACACACATGTGTATATGTA TATATGTATATACACACA	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4681		chr20	TogoVar
UBE3D_chr6_82887390_83070841	82934930	A A	ATATATAT others(245): Show ATATATATATGTATATATATATACGTATATATTATATACGTATATATACG TATATATTATATACGTATATATATGTATATATATACGTATATATATATGT ATATATATGTATATATATACGTATATATATACGTATATATATGTATATAT ATACGTATATATACGTATATATATGTATATATATACGTATATATACGTAT ATATATACGTATATATATATGTATATATATATGTATATATGTATATATAT ATG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	186	0.0054	252	c.114 others(273): Show c.1149+22381_1149+22382insCATATATATATACATATATACATA TATATATACATATATATATACGTATATATATACGTATATATACGTATATA TATACATATATATACGTATATATACGTATATATATACATATATATACGTA TATATATACGTATATATATACATATATATACATATATATATACGTATATA TATACATATATATACGTATATAATATATACGTATATATACGTATATAATA TATACGTATATATATATACATATATATA	UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	9/9			chr6	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(245): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGCA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACACATATATGTGTGTGTATACGCATACACACACATATA TGTGTGTGTATACGCATACACACACATATATGTGTGTGTATACGCATACA CACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATA CGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	320	0.0031	252	c.-38 others(263): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGCATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATACGC ATACACACACATATATGTGTGTGTATACGCATACACACACATATATGTGT GTGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACAT ATATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355870	T T	TATACACA others(245): Show TATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGCATA CACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATA CGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTG TGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACACA TATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATACGCA TAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	320	0.0031	252	c.-38 others(263): Show c.-3846_-3845insATACACAAGTGTGTATATACGTATATACACAAGT GTGTATATACGCATACACACATATATGTGTGTGTATACGCATACACACAT ATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATAC ACACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTAT ACGCATACACACACATATATGTGTGTGTATACGCATACACACACATATAT GTGTGTGTATACGCATAC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3729		chr11	TogoVar
URAD_chr13_27972717_27993693	27991049	A A	ATAGGTAT others(245): Show ATAGGTATATGTATATGTATAGGTATAGGTGTAGGTATATGTATAGGTAT ATGTATATGTATAGGTATATGTATATGTATAGGTATAGGTGTAGGTATAT GTATATGTATAGGTGTAGGTATATGTATAGGTATAGGTATAGGTATATGT ATATGTATAGGTGTAGGTATAGGTATAGGTATAGGTATAGGTATATGTAT ATGTATAGGTGTAGGTATAGGTATAGGTATATGTATATGTATATGTATAG GTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01109.hp1 HG01516.hp2 others(4): Show HG00639.hp2 HG01109.hp1 HG01516.hp2 HG02451.hp2 HG02559.hp1 HG03139.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0035 a0001c0001t0002g0015 a0001c0001t0002g0035	7	428	0.0164	252	c.-24 others(263): Show c.-2413_-2412insCACCTATACATATACATATACATATACCTATACC TATACCTACACCTATACATATACATATACCTATACCTATACCTATACCTA TACCTACACCTATACATATACATATACCTATACCTATACCTATACATATA CCTACACCTATACATATACATATACCTACACCTATACCTATACATATACA TATACCTATACATATACATATACCTATACATATACCTACACCTATACCTA TACATATACATATACCTA	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2357		chr13	TogoVar
USF3_chr3_113643385_113701642	113683243	C C	CTCTAGTT others(245): Show CTCTAGTTTTTAATCTATAAAAACTATTATCTAGTTTTTAATCTATAAAA ACTATTATCTAGTTTTTAATCTATAAAAACTATTATCTAGTTTTTAATCT ATAAAAACTATTATCTAGTTTTTAATCTATAAAAACTATTATCTAGTTTT TAATCTATAAAAACTATTATCTAGTTTTTAATCTATAAAAACTATTATCT AGTTTTTAATCTATAAAAACTATTATCTAGTTTTTAATCTATAAAAACTA TTA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0010 a0005c0008t0010	a0005c0008t0010g0050 a0005c0008t0010g0050	1	342	0.0029	252	c.-13 others(271): Show c.-134-5847_-134-5846insTAATAGTTTTTATAGATTAAAAACTA GATAATAGTTTTTATAGATTAAAAACTAGATAATAGTTTTTATAGATTAA AAACTAGATAATAGTTTTTATAGATTAAAAACTAGATAATAGTTTTTATA GATTAAAAACTAGATAATAGTTTTTATAGATTAAAAACTAGATAATAGTT TTTATAGATTAAAAACTAGATAATAGTTTTTATAGATTAAAAACTAGATA ATAGTTTTTATAGATTAAAAACTAGA	USF3	ENSG00000176542.10	transcript	ENST00000316407.9	protein_coding	1/6			chr3	TogoVar
USP34_chr2_61182463_61476087	61473618	T T	TATAAACT others(245): Show TATAAACTTTTAAAAATTTGAGGACCACTCCATAAGTAAACATGAGTTCC AAACAGAAGAAAATGGAGTGTATGGAAAAAAGGATTCAAGAGAATCTCCA CAAACAGAAGGGTATCAATTTGCTCATAACAAATCACTAAATATCCATCC CATAAGATACAAATACACCCCCAGTTGTCCAGGTGTGGTGACACACACTT GTCCTCCCAGCTACCCAGGAGGCTGAGGCAGGAGGATTCCTTGAGCCAGG AAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00423.hp1 others(85): Show HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01433.hp1 HG01496.hp1 HG01952.hp1 HG01993.hp1 HG02027.hp2 HG02129.hp2 HG02135.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02630.hp2 HG02683.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02976.hp2 HG03017.hp2 HG03471.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 NA18612.hp1 NA18906.hp2 NA18944.hp1 NA18945.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18961.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18983.hp2 NA18990.hp2 NA18994.hp2 NA18999.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp2 NA19009.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19060.hp2 NA19064.hp1 NA19077.hp1 NA19079.hp2 NA19081.hp2 NA19086.hp2 NA19091.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0011 a0001c0016 a0001c0020 a0001c0022 a0001c0027 a0004c0028 a0006c0021	a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 others(18): Show a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0012 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0002t0029 a0001c0003t0002 a0001c0003t0008 a0001c0008t0001 a0001c0011t0001 a0001c0016t0001 a0001c0020t0002 a0001c0022t0001 a0001c0027t0001 a0004c0028t0002 a0006c0021t0006	a0001c0001t0010g0306 a0001c0002t0001g0236 a0001c0002t0001g0256 others(85): Show a0001c0001t0010g0306 a0001c0002t0001g0236 a0001c0002t0001g0256 a0001c0002t0001g0261 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0286 a0001c0002t0002g0015 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0005g0099 a0001c0002t0005g0103 a0001c0002t0007g0002 a0001c0002t0007g0003 a0001c0002t0007g0004 a0001c0002t0007g0005 a0001c0002t0007g0006 a0001c0002t0007g0007 a0001c0002t0007g0008 a0001c0002t0007g0009 a0001c0002t0007g0010 a0001c0002t0008g0068 a0001c0002t0008g0069 a0001c0002t0008g0070 a0001c0002t0008g0071 a0001c0002t0012g0012 a0001c0002t0012g0013 a0001c0002t0018g0001 a0001c0002t0019g0011 a0001c0002t0020g0014 a0001c0002t0029g0311 a0001c0003t0002g0016 a0001c0003t0002g0060 a0001c0003t0008g0067 a0001c0008t0001g0215 a0001c0011t0001g0231 a0001c0011t0001g0232 a0001c0011t0001g0237 a0001c0016t0001g0130 a0001c0020t0002g0019 a0001c0022t0001g0241 a0001c0027t0001g0208 a0004c0028t0002g0053 a0006c0021t0006g0303	88	312	0.2821	252	c.-29 others(263): Show c.-2927_-2926insTTTCCTGGCTCAAGGAATCCTCCTGCCTCAGCCT CCTGGGTAGCTGGGAGGACAAGTGTGTGTCACCACACCTGGACAACTGGG GGTGTATTTGTATCTTATGGGATGGATATTTAGTGATTTGTTATGAGCAA ATTGATACCCTTCTGTTTGTGGAGATTCTCTTGAATCCTTTTTTCCATAC ACTCCATTTTCTTCTGTTTGGAACTCATGTTTACTTATGGAGTGGTCCTC AAATTTTTAAAAGTTTAT	USP34	ENSG00000115464.15	transcript	ENST00000398571.7	protein_coding		2532		chr2	TogoVar
VCX3A_chrX_6528618_6540118	6533305	C C	CCACCTCT others(245): Show CCACCTCTTCCTTCCTTCTTTCCTCCCTCCCTCCCCCACACACCACCTCT CCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCA CACACCTCCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCT CCCTCCTCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTC TTCCTCCCTCCCTCCTCACACACCACCTCTTCCTCCCTCCCTCCCTCCCC ACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0013 a0004c0005t0002g0013	1	74	0.0135	252	c.43 others(261): Show c.439_*440insTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GAGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGAGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGGAGAGGTGGTGTGTGGGGGAGGGAGGGAGGAAAG AAGGAAGGAAGAGGTG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		312		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467385	A A	AAGAGGTG others(245): Show AAGAGGTGTGTGGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGAGGAGGTGTGTGG GGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGAGGAGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGA GGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0004 a0003c0003t0003g0004	1	271	0.0037	252	c.10 others(263): Show c.1002_*1003insAGAGGTGTGTGGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGG AGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGAGGAGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGA GGAGGTGTGTGGGGAGGG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		876		chrX	TogoVar
VEGFB_chr11_64229584_64244264	64237115	G G	GAGGGGGA others(245): Show GAGGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGACAGACAGAGACAGACAGAGACA GAC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	328	0.0031	252	c.375 others(265): Show c.375-70_375-69insGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGACAGACAG AGACAGACAGAGACAGACAG	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
VIPR2_chr7_159023175_159149867	159129212	T T	TGGGGACA others(245): Show TGGGGACAGGGCCAGGTGACCAGCTTCACACTCTGTTCCCTCAAACTGGA CTCTGGTGGGGACAGGGCCAGGTGACCAGCTTCACACTCTGTTCCCTCAA ACTGGCCTCTGGGGGGGACAGGGCTGGGGGGACAGGGCCAGGTGACCAGC TTCACACTCTGTTCCCTCAAACTGGACTCTGGTGGGGACAGGGCCAGGTG ACCAGCTTCACACTCTGTTCCCTCAAACTGGACTCTGGTGGGGACAGGGC TGG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01884.hp1 HG02109.hp1 others(12): Show HG01361.hp1 HG01884.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02615.hp1 HG02647.hp1 HG02895.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0025 a0001c0027 a0001c0029 a0002c0018 a0002c0024	a0001c0001t0001 a0001c0002t0007 a0001c0004t0004 others(7): Show a0001c0001t0001 a0001c0002t0007 a0001c0004t0004 a0001c0004t0007 a0001c0004t0038 a0001c0025t0006 a0001c0027t0006 a0001c0029t0008 a0002c0018t0015 a0002c0024t0050	a0001c0001t0001g0099 a0001c0002t0007g0007 a0001c0004t0004g0019 others(12): Show a0001c0001t0001g0099 a0001c0002t0007g0007 a0001c0004t0004g0019 a0001c0004t0004g0178 a0001c0004t0004g0181 a0001c0004t0004g0182 a0001c0004t0004g0306 a0001c0004t0004g0307 a0001c0004t0007g0177 a0001c0004t0038g0151 a0001c0025t0006g0072 a0001c0027t0006g0184 a0001c0029t0008g0020 a0002c0018t0015g0150 a0002c0024t0050g0071	15	336	0.0446	252	c.151 others(271): Show c.151+13233_151+13234insCCAGCCCTGTCCCCACCAGAGTCCAG TTTGAGGGAACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCCCACCAGA GTCCAGTTTGAGGGAACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCCC CCAGCCCTGTCCCCCCCAGAGGCCAGTTTGAGGGAACAGAGTGTGAAGCT GGTCACCTGGCCCTGTCCCCACCAGAGTCCAGTTTGAGGGAACAGAGTGT GAAGCTGGTCACCTGGCCCTGTCCCC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar

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