Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RBFOX3_chr17_79084345_79616051	79495577	A A	ATGCGGGA others(363): Show ATGCGGGAAGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGG GGGAAAGGGTACTGGGGCAGGGATGGGGATGCGGGAAGGTGGGGGAGGGG TGCAGAGGGTGGGGAGGTGGGGCAGGGGTACTGGGGCAGGGATGGGGATG CGGGAAGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGC AGGGGTACTGGGGCAGGGATGGGGATGCGGGAAGGTGGGAAGGTGGGGGA GGGGTGCAGAGGGTGGGGAGGTGGGGCAGGGGTACTGGGGCAGGGATGGG GGTGCGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGCAGGG GTACTGGGGCAGGGATGGGGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00558.hp2 others(10): Show HG00423.hp1 HG00438.hp1 HG00558.hp2 HG02055.hp1 HG02056.hp1 HG02129.hp1 HG02132.hp2 HG03688.hp2 HG03927.hp1 NA18747.hp1 NA18945.hp1 NA18971.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0022 a0001c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0042 a0001c0001t0001g0074 others(10): Show a0001c0001t0001g0008 a0001c0001t0001g0042 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0002g0110 a0001c0001t0002g0148 a0001c0001t0003g0072 a0001c0001t0003g0085 a0001c0001t0005g0109 a0001c0001t0022g0141 a0001c0002t0001g0037 a0001c0002t0001g0053 a0001c0002t0001g0079	13	154	0.0844	370	c.-31 others(391): Show c.-319-12980_-319-12979insCCCCCATCCCTGCCCCAGTACCCC TGCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCCGCACCCCC ATCCCTGCCCCAGTACCCCTGCCCCACCTCCCCACCCTCTGCACCCCTCC CCCACCTTCCCACCTTCCCGCATCCCCATCCCTGCCCCAGTACCCCTGCC CCACCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCCACCTTCCCGCAT CCCCATCCCTGCCCCAGTACCCCTGCCCCACCTCCCCACCCTCTGCACCC CTCCCCCACCTTCCCGCATCCCCATCCCTGCCCCAGTACCCTTTCCCCCA CCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCCACCTTCCCGCA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79554464	C C	CACCTGGC others(363): Show CACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCA CAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCA CCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCC ATCCTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACA GTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACC TGGCCCTCTCCATCTTCACTCACAGTCACCCCCGACCTGGCCCTCTCCAT CTTCACTCACAGTCACCCCCG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0113 a0001c0001t0008g0113	1	154	0.0065	370	c.-32 others(391): Show c.-320+56361_-320+56362insCGGGGGTGACTGTGAGTGAAGATG GAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGT GAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGT GAGTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAGGATGGA GAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGA GGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGA GTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGA GGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79554464	C C	CACCTGGC others(363): Show CACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCA CAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCA CCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCC ATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACA GTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCCGACC TGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCAT CCTCACTCACAGTCACCCCCG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0142 a0001c0001t0005g0142	1	154	0.0065	370	c.-32 others(391): Show c.-320+56361_-320+56362insCGGGGGTGACTGTGAGTGAGGATG GAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT CGGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGT GAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGA GAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGA GGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGA GTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGA GGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(363): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCAGCCC CCGCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCC CGCCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCC GGGAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0096 a0001c0003t0011g0096	1	204	0.0049	370	c.880 others(387): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGCTGA CCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(363): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGGTCAGCCC CCGCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCC CGCCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCC GGGAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19000.hp1 NA18944.hp2 NA19000.hp1	a0002 a0004 a0002 a0004	a0002c0006 a0004c0022 a0002c0006 a0004c0022	a0002c0006t0003 a0004c0022t0003 a0002c0006t0003 a0004c0022t0003	a0002c0006t0003g0097 a0004c0022t0003g0098 a0002c0006t0003g0097 a0004c0022t0003g0098	2	204	0.0098	370	c.880 others(387): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGCTGA CCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(363): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCAGCCCC CGCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCC GCCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCG GGAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG03688.hp2 HG00597.hp1 HG00609.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0003g0115 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0003g0115	3	204	0.0147	370	c.880 others(387): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGG GGCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGC TGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGCTG ACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RIMBP2_chr12_130391133_130721299	130482858	A A	ATACACCC others(363): Show ATACACCCATTGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGGGCACA CCTCATCCAAATACACCCATTGTGTGTGTACATGTGTCAGATTCTGCAGG GGAGGGGGCACACCTCATCCAATTACACCCATTGTGTGTGTACATGTGTC AGATTCTGCAGGGGAGGGGGCAGACCTCATCCAAATACACCCATTGTGTG TGTACATGTGTCAGATTCTGCAGGGGAGGGGGCAGACCTCATCCAAATAC ACCCATTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGGGCACACC TCATCCAAATACACCCATTGTGTGTGTACATGTGTCAGATTCTGCAGGGG AGGGGGCAGACCTCATCCAAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0162 a0001c0002t0001g0162	1	180	0.0056	370	c.-3- others(385): Show c.-3-3843_-3-3842insATTGGATGAGGTCTGCCCCCTCCCCTGCAG AATCTGACACATGTACACACACAATGGGTGTATTTGGATGAGGTGTGCCC CCTCCCCTGCAGAATCTGACACATGTACACACACAATGGGTGTATTTGGA TGAGGTCTGCCCCCTCCCCTGCAGAATCTGACACATGTACACACACAATG GGTGTATTTGGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGACACATGT ACACACACAATGGGTGTAATTGGATGAGGTGTGCCCCCTCCCCTGCAGAA TCTGACACATGTACACACACAATGGGTGTATTTGGATGAGGTGTGCCCCC TCCCCTGCAGAATCTGACACATGTACACACAATGGGTGTA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	4/22			chr12	TogoVar
RNF139_chr8_124469880_124493618	124483108	T T	TATTATTT others(363): Show TATTATTTAAATATATATATATTTAAAAATATATATATTAAAAATATATA TATTTAAATATATATATCTTTAAATATGTATATTTAAATTATATAATTTA AATATATATTAATATACATATTTTAATATATATAATTTAATATATATCTT TAAATATATATTAATATATATTTAAAGATATATATTAAATTATATATATT AAAATATGTATATTAATATATATTTAAATTATATAATTTAAATATACATA TTTAAAGATATATATATTTAAATATATATATTTTTAATATATATATTTTT AAATATATATATATTTATATATATATTTTTATATATATATATTTATATAT ATATTTTTAAATATATATATA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02895.hp1 HG02273.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0133 a0001c0001t0001g0066 a0001c0001t0001g0133	2	408	0.0049	370	c.182 others(387): Show c.182-2723_182-2722insATTATTTAAATATATATATATTTAAAAA TATATATATTAAAAATATATATATTTAAATATATATATCTTTAAATATGT ATATTTAAATTATATAATTTAAATATATATTAATATACATATTTTAATAT ATATAATTTAATATATATCTTTAAATATATATTAATATATATTTAAAGAT ATATATTAAATTATATATATTAAAATATGTATATTAATATATATTTAAAT TATATAATTTAAATATACATATTTAAAGATATATATATTTAAATATATAT ATTTTTAATATATATATTTTTAAATATATATATATTTATATATATATTTT TATATATATATATTTATATATATATTTTTAAATATATATATA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar
RORA_chr15_60483284_61234302	60816082	G G	GTATTTAT others(363): Show GTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTAT ATGTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGT ATATGTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACA GTATATGTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAA CAGTATATGTATTTATATACTGTAAACAGTATATGTATTTATATACTGTA AACAGTATATGTATTTATATACTGTAAACAGTATATGTATTTATATACTG TAAACAGTATATGTATTTATATACTGTAAACAGTATATGTATTTATATAC TGTAAACAGTATATGTATTTA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0084 a0001c0007t0003g0084	1	118	0.0085	370	c.167 others(391): Show c.167-137397_167-137396insTAAATACATATACTGTTTACAGTA TATAAATACATATACTGTTTACAGTATATAAATACATATACTGTTTACAG TATATAAATACATATACTGTTTACAGTATATAAATACATATACTGTTTAC AGTATATAAATACATATACTGTTTACAGTATATAAATACATATACTGTTT ACAGTATATAAATACATATACTGTTTACAGTATATAAATACATATACTGT TTACAGTATATAAATACATATACTGTTTACAGTATATAAATACATATACT GTTTACAGTATATAAATACATATACTGTTTACAGTATATAAATACATATA CTGTTTACAGTATATAAATACATATACTGTTTACAGTATATAAATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(363): Show GGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGGG AGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAG GGAGGGGGAGAAGGGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGA AGAAGAGGAAGAGGAAGGAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAG GAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGA GGAGAAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	396	0.0025	370	c.807 others(387): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTCCTTCCTCTTCCTCTTCTTCCTCTT CCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCTCC CCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCT CCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCC CCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCC TCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTP5_chr2_241864729_241878823	241874948	G G	GAAATGCA others(363): Show GAAATGCAGGGACGGGGGTCCCAGGAGAAACCCCAATCCAGGTCTCAGGG GCCAAAATGCAGGGACGGGGGTCCCAGGAGAAACCCCAATCCAGGTCTCA GGGCCCAATTGCAGGGACAGGGGTCCCAGGAGAAACCCCAATCCAGGGCC TCGGGGGCCAACTGCAGGGACAGGGGTCCCAGGAGAAACCCCAATCCAGG TCTCAGGGGCCGAAATGCAGGGACGGGGGTCCCAGGAGAAACCCCAATCC AGGTCTCAGGGGCCGAAATGCAGGGACGGGGGTCCTAGGAGAAACCCCAA TCCAGGTCTCAGGGGCCAAAATGCAGGGACGGGGGTCCCAGGAGAAACCC CAATCCAGGTCTCAGGGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01358.hp2 HG01256.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	2	365	0.0055	370	c.16 others(381): Show c.1674_*1675insAAATGCAGGGACGGGGGTCCCAGGAGAAACCCCA ATCCAGGTCTCAGGGGCCAAAATGCAGGGACGGGGGTCCCAGGAGAAACC CCAATCCAGGTCTCAGGGCCCAATTGCAGGGACAGGGGTCCCAGGAGAAA CCCCAATCCAGGGCCTCGGGGGCCAACTGCAGGGACAGGGGTCCCAGGAG AAACCCCAATCCAGGTCTCAGGGGCCGAAATGCAGGGACGGGGGTCCCAG GAGAAACCCCAATCCAGGTCTCAGGGGCCGAAATGCAGGGACGGGGGTCC TAGGAGAAACCCCAATCCAGGTCTCAGGGGCCAAAATGCAGGGACGGGGG TCCCAGGAGAAACCCCAATCCAGGTCTCAGGGGCCA	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		1126		chr2	TogoVar
SCARA5_chr8_27864883_27997673	27919040	G G	GAGAAGGC others(363): Show GAGAAGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAGGAGGAGAAGGAAGA AGAGGAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAAGAGGAGAAAG AGGAGGAGGAGGAGGGGAAAGAAGAGGATAAGGAAGAAAGGGAAGAGGAG AGGGAAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAGGAGGAGGAGGAGAA AAAGAGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAGGAAAAGCAGGAGGA GAAGGAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAGGAGGAGAAGGAGGA GGAATGGGAGGAGGAGGAGAGAATAGAGGAGGAGGAGGGAATAGAGGAGG AGGAGAGAAGGGAGGAGGAGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02809.hp2 HG02895.hp2 others(1): Show HG02258.hp2 HG02809.hp2 HG02895.hp2 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0013 a0001c0001 a0001c0003 a0002c0013	a0001c0001t0001 a0001c0003t0009 a0001c0003t0040 others(1): Show a0001c0001t0001 a0001c0003t0009 a0001c0003t0040 a0002c0013t0011	a0001c0001t0001g0194 a0001c0003t0009g0036 a0001c0003t0040g0030 others(1): Show a0001c0001t0001g0194 a0001c0003t0009g0036 a0001c0003t0040g0030 a0002c0013t0011g0257	4	314	0.0127	370	c.916 others(387): Show c.916+2530_916+2531insTCTCCTCCTCCCTTCTCTCCTCCTCCTC TATTCCCTCCTCCTCCTCTATTCTCTCCTCCTCCTCCCATTCCTCCTCCT TCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTCCT GCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCTTTTTCTCCT CCTCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCCCTCTCCTCT TCCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCTCCTCCTCTTTCTC CTCTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCTCTTCTTCCT TCTCCTCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTCT	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGG others(363): Show TTGGGTGGGGGGTTGGGTGAGGGGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTT GGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGTTGGGTGAGGGGG TTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGG TGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTG GGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGG TGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGG GGTTGGGTGAGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	290	0.0035	370	c.464 others(383): Show c.464+91_464+92insTGGGGGGTTGGGTGAGGGGGGGTGGGGGGGTT GGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGT TGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGG TTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGT TGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGG GGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGG GTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTG GGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288219	T T	TCCCGTGT others(363): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0122 a0002c0003t0002g0122	1	290	0.0035	370	c.166 others(387): Show c.1662+231_1662+232insCCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288275	C C	CCGTGTCT others(363): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0018 a0002c0003t0001g0018	1	290	0.0035	370	c.166 others(387): Show c.1662+239_1662+240insGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243480604	A A	ATGGATGG others(363): Show ATGGATGGATGGATGGGTGGGATGGATGGGGGATGGATGGATGGGTGGGA TGGATGGATGGATGGTTGGGATGGATGAATGGGGGATGGATGGATGGATG GGTGGGATGGATGGATGGGTGGGATGGATGGGTGGGATGGATGGATGGGT GGGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGATGGATGGG TGGGATGGATGGATGGGTGGGTGGGATGGATGGGTGGATGGATGGATGGG TGGGATGGATGGATGGGTGGGATGGATGGATGGATGGATGGATGGGTGGG ATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGATGGATGGG TGGGATGGATGGATGGATGGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03486.hp1 HG00738.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0041 a0002c0003t0001g0164 a0001c0001t0001g0041 a0002c0003t0001g0164	2	189	0.0106	370	c.198 others(389): Show c.1986-8391_1986-8390insGATGGATGGGGGATGGATGGATGGGT GGGATGGATGGATGGATGGTTGGGATGGATGAATGGGGGATGGATGGATG GATGGGTGGGATGGATGGATGGGTGGGATGGATGGGTGGGATGGATGGAT GGGTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGATGGA TGGGTGGGATGGATGGATGGGTGGGTGGGATGGATGGGTGGATGGATGGA TGGGTGGGATGGATGGATGGGTGGGATGGATGGATGGATGGATGGATGGG TGGGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGATGGA TGGGTGGGATGGATGGATGGATGGGTGGATGGATGGATGGGTGG	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGMS1_chr10_50300600_50628956	50479037	A A	AACCCTTC others(363): Show AACCCTTCTTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCAGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCATTGCAGTCCGCAGTCCGGCCTGGGCAACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAACAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0217 a0001c0001t0003g0217	1	312	0.0032	370	c.-49 others(391): Show c.-497-12106_-497-12105insGTTTTTTTTTTGTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAATGGCGCA ATCTCGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAAAGAAGGGT	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	3/10			chr10	TogoVar
SIGIRR_chr11_400716_419999	401552	G G	GCCCGCTC others(363): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCAC CCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACC CGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCAC ACCCGCCCCGCTCACACCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01993.hp2 HG01071.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0096 a0001c0001t0001g0010 a0001c0001t0001g0096	2	242	0.0083	370	c.43 others(381): Show c.4343_*4344insGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCG GGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGT GAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCG GGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGG CGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCG GGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTG TGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGA GCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4163		chr11	TogoVar
SIGIRR_chr11_400716_419999	401566	G G	GCCCCGCT others(363): Show GCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCC CCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCAC ACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACC CGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGA CCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCA CCCCCGGCCCCGCTCACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	242	0.0041	370	c.43 others(381): Show c.4329_*4330insGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGG GTGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGCGGGGCGGGTGTG AGCGGGGCCGGGGTGAGCGGGGCCGGGGGTGAGCGGGTCGGGTGTGAGCG GGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGG CCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCG GGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTG TGAGCGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGC GGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4149		chr11	TogoVar
SLAIN1_chr13_77692687_77769229	77704206	A A	ATACATAT others(363): Show ATACATATGTTTTATATGTATATATACATAGAAAATATATATACATGTTT TATATGTATATATATACATAGAAAATATATATACATGTTTTATATGTATA TATATACATAGAAAATATATATACATGTTTTATATGTATATATATACATA GAAAATATATATACATATGTTTTATATGTATATATATACATAGAAAATAT ATATACATATGTTTTATATGTATATATATACATAGAAAATATATGTACAT ATGTTTTATATGTATATATATACATAGAAAATATATGTACATATGTTTTA TATGTATATATATACATAGAAAATATATGTACATATGTTTTATATGTATA TATATACATAGAAAATATATG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	300	0.0033	370	c.626 others(387): Show c.626+5706_626+5707insATACATGTTTTATATGTATATATATACA TAGAAAATATATATACATGTTTTATATGTATATATATACATAGAAAATAT ATATACATGTTTTATATGTATATATATACATAGAAAATATATATACATAT GTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTTATA TGTATATATATACATAGAAAATATATGTACATATGTTTTATATGTATATA TATACATAGAAAATATATGTACATATGTTTTATATGTATATATATACATA GAAAATATATGTACATATGTTTTATATGTATATATATACATAGAAAATAT ATGTACATATGTTTTATATGTATATATACATAGAAAATATAT	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(363): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGGCGGCAGGGGGAGGAGG CGGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGG AGGCGGGAGGGGGAGGAGGCGTGGGGGCGGGAGGGGGAGGAGGCGGGGAG GCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGAGGCGGGGGGG CGGGAGGGGGGAGGCGGGGGGGCGGGAGGGGGCGGGAGGGGGAGGAGGCG GGGGGCGGGGGGGCGGGAGGGGAAGGAGGCGGGGGGGCGGGGGGGGCGGG GGGGCGGGGGGGCGGGGGGGGCGGGGGGGCGGGAGGGGGAGGACGCGGGG GGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	222	0.0045	370	c.914 others(389): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCCG CGTCCTCCCCCTCCCGCCCCCCCGCCCCCCCCGCCCCCCCGCCCCCCCGC CCCCCCCGCCCCCCCGCCTCCTTCCCCTCCCGCCCCCCCGCCCCCCGCCT CCTCCCCCTCCCGCCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCC CCGCCTCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCTCCC CGCCTCCTCCCCCTCCCGCCCCCACGCCTCCTCCCCCTCCCGCCTCCCCG CCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCCGCCTCC TCCCCCTGCCGCCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(363): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGGCGGCAGGGGGAGGAGG CGGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGG AGGCGGGAGGGGGAGGAGGCGTGGGGGCGGGAGGGGGAGGAGGCGGGGAG GCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGAGGCGGGGGGG CGGGAGGGGGGAGGCGGGGGGGCGGGAGGGGGCGGGAGGGGGAGGAGGCG GGGGGCGGGGGGGCGGGAGGGGAAGGAGGCGGGGGGGCGGGGGGGGCGGG GGGGCGGGGGGGCGGGGGGGGCGGGGGGGGCGGGAGGGGGAGGACGCGGG GGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	222	0.0045	370	c.914 others(389): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCCGCCCCCCCCGCCCCCCCGCCCCCCCGC CCCCCCCGCCCCCCCGCCTCCTTCCCCTCCCGCCCCCCCGCCCCCCGCCT CCTCCCCCTCCCGCCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCC CCGCCTCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCTCCC CGCCTCCTCCCCCTCCCGCCCCCACGCCTCCTCCCCCTCCCGCCTCCCCG CCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCCGCCTCC TCCCCCTGCCGCCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC6A3_chr5_1387794_1450440	1422479	G G	GCTGCCCA others(363): Show GCTGCCCACGGTGCTGCCCAAGGTGCTGGGTACCCACCGCTGCCCAGTGC TGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGGTGCTG GGTGCCCACCGCTGCCCACGGTGCTGCCCACGCTGCTGGGTGCCCACCGC TGCCCACGGTGCTGCCCAAGGTGCTGGGTACCCACCGCTGCCCAGTGCTG CCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGGTGCTGGG TGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTG CCCAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCC CACGCTGCTGGGTGCCCACCA	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18747.hp1 NA18941.hp1 others(9): Show HG02027.hp2 NA18747.hp1 NA18941.hp1 NA18951.hp2 NA18960.hp2 NA18984.hp2 NA19057.hp2 NA19060.hp2 NA19068.hp1 NA19070.hp1 NA19088.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0040 a0001c0001t0001 a0001c0001t0006 a0001c0001t0040	a0001c0001t0001g0003 a0001c0001t0001g0051 a0001c0001t0001g0054 others(8): Show a0001c0001t0001g0003 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0080 a0001c0001t0006g0100 a0001c0001t0006g0166 a0001c0001t0006g0175 a0001c0001t0006g0224 a0001c0001t0006g0231 a0001c0001t0006g0232 a0001c0001t0040g0167	12	373	0.0322	370	c.654 others(385): Show c.654-466_654-465insTGGTGGGCACCCAGCAGCGTGGGCAGCACT GTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGG GCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCACC GTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGG GCAGCGGTGGGTACCCAGCACCTTGGGCAGCACCGTGGGCAGCGGTGGGC ACCCAGCAGCGTGGGCAGCACCGTGGGCAGCGGTGGGCACCCAGCACCGT GGGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGGC AGCGGTGGGTACCCAGCACCTTGGGCAGCACCGTGGGCAG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SNTG2_chr2_945849_1372613	965349	G G	GTCCTCCT others(363): Show GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTC CTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACC CCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCT CCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02886.hp2 HG02895.hp2 HG02647.hp1 HG02886.hp2 HG02895.hp2	a0007 a0013 a0007 a0013	a0007c0017 a0013c0018 a0007c0017 a0013c0018	a0007c0017t0001 a0013c0018t0001 a0007c0017t0001 a0013c0018t0001	a0007c0017t0001g0105 a0013c0018t0001g0045 a0013c0018t0001g0046 a0007c0017t0001g0105 a0013c0018t0001g0045 a0013c0018t0001g0046	3	190	0.0158	370	c.72+ others(387): Show c.72+14291_72+14292insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGT CCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTC CTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACC CCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCT CCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(363): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAAGGGGGAAGGGGAGGGGGAGGTG GGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAA GCGGGAACGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGG GAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAG GGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGGGGAG GGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGATATGGGGAGGGG GAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01433.hp1 HG00639.hp1 HG01433.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0018 a0004c0005t0018	a0004c0005t0018g0190 a0004c0005t0018g0192 a0004c0005t0018g0190 a0004c0005t0018g0192	2	251	0.0080	370	c.34 others(379): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATATCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCATC TCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCC CCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCGT TCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCC TTCCCCCTTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCC CTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(363): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGGG GGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGG AGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGAG GGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0015 a0015	a0015c0037 a0015c0037	a0015c0037t0001 a0015c0037t0001	a0015c0037t0001g0254 a0015c0037t0001g0254	1	260	0.0039	370	c.138 others(389): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCC TCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCCT CCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(363): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGGG GGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGG GAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGA GGGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0209 a0002c0002t0001g0209	1	260	0.0039	370	c.138 others(389): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCCT CCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCCCT CCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(363): Show GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGGGGGAGGG GGGAGAGAGGGGGAGGGAGGGGGGAGAGAGGGGGGAGAGGGGGAGGGAGG GGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGAGAGAGAGGGGGA GGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGA GGGGGGGGGAGAGAGAGGGGGAGGGAGGGGGAGGGAGGGGGGAGAGAGAG GGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGAGAGAGAGGGGGA GGGAGGGGGGAGAGAGAGGGGGAGGGGGGGAGAGAGAGGGGGAGGGAGGG AGGGAGGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0060 a0001c0002t0060	a0001c0002t0060g0173 a0001c0002t0060g0173	1	276	0.0036	370	c.-18 others(389): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTC TCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCCCCTCCCC CTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCC CTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCC CTCCCCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCCCCTC CCCCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYTL3_chr6_158645054_158769871	158701195	A A	AAGGAGTG others(363): Show AAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTAGGGGAGGAGCCG TGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTACATGAAGGACTG TCTGGGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGG GTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTG GGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAGGGAGTGTGAGC TGGGGTGTAGATGAAGGGCTGTCTGGGGGAGGAGCCGTGGGAAGAGGGTC ATGGAGGAGTGTGAGCTGGGGTGTACATGAAGGACTGTCTGGGGGGAGGA GCCATGGGGAGAGGGTCATGG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	292	0.0034	370	c.395 others(387): Show c.395-6006_395-6005insGCTGTCTAGGGGAGGAGCCGTGGGAAGA GGGTCATGGAGGAGTGTGAGCTGGGGTGTACATGAAGGACTGTCTGGGGG GAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTAGAT GAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAG ATGAAGGAGTGTGAGCTGGGGTGTAGATGAGGGAGTGTGAGCTGGGGTGT AGATGAAGGGCTGTCTGGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGA GTGTGAGCTGGGGTGTACATGAAGGACTGTCTGGGGGGAGGAGCCATGGG GAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TBCD_chr17_82747065_82950914	82765367	C C	CTGTGTGC others(363): Show CTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTC ATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGCTCATAGTCTGCTTT TCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAA GCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGT GTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGT GCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTC TGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTT ACAAGCTTGCGGGTGTCTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp2 HG01891.hp2 HG02559.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0253 a0002c0003t0003g0258 a0002c0003t0003g0253 a0002c0003t0003g0258	2	318	0.0063	370	c.334 others(385): Show c.334-898_334-897insTGTGCTCATAGTCTGCTTTTCTTACAAGCT TGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTC TGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATA GTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTT CTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAG CTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGG TGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCT CATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	3/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TCF3_chr19_1604292_1657615	1627913	G G	GGGGGTGA others(363): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAA GGGGACAGCAGAACTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCT CACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGA AGGGGACAGCAGAACTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCT CACAGGGGATGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTAAGGCGG GAAGGGGACAGCAGAGCTCAC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	352	0.0028	370	c.299 others(385): Show c.299-488_299-487insGTGAGCTCTGCTGTCCCCTTCCCGCCTTAC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGT CCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCT GTCCCCTTCCCGCCCCACCCCCGTGAGTTCTGCTGTCCCCTTCCCACCTC ACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCT GTCCCCTTCCCGCCTCATCCCCTGTGAGTTCTGCTGTCCCCTTCCCGCCT CACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1272940	C C	CACGACCG others(363): Show CACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCC ACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATC AGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCG CCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAGTCACCACAC ATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCCACAACCGC CATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACC ACACATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCCACAA CCGCCATCCACAGTCACCACA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0306 a0001c0003t0005g0306	1	392	0.0026	370	c.228 others(387): Show c.2287-661_2287-660insTGTGGTGACTGTGGATGGCGGTTGTGGG GGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTG TGGGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGATGGCGGTCGT GGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGC GGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEG_chr19_356747_381026	377340	C C	CTCTGTGC others(363): Show CTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCC TCTCCCCCCCCTGTGCCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCA GCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCAC CCAGCCTCTCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCC CACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTG CCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0249 a0002c0002t0001g0249	1	370	0.0027	370	c.-13 others(381): Show c.-1371_-1370insAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGGGGGCACAGA GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACA GGGGGGAGAGGCTGGGTGGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGG CACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGG GGCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGG TGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1315		chr19	TogoVar
THEG_chr19_356747_381026	377496	T T	TCTGTGCC others(363): Show TCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTC CCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCA GCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCACC CAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCC CACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGC CCCACCCAGCCTCTCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0347 a0001c0001t0001g0347	1	370	0.0027	370	c.-15 others(381): Show c.-1527_-1526insGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGGGGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGA GGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACA GGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTG GGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGG TGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1471		chr19	TogoVar
TMEM120B_chr12_121707752_121787068	121747531	G G	GCACTGGG others(363): Show GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0210 a0002c0002t0004g0210	1	314	0.0032	370	c.189 others(385): Show c.189-794_189-793insACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129088570	C C	CGGGATGT others(363): Show CGGGATGTCCTCCCTGACCGGGTGTCCTCCATGACCGGGGTGTCCTCCAT GACCGGGTGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGTGTCCTCC ATGACCGGGCGTCCTCCATGACCGGGGCGTCCTCCATGACCGGGGCGTCC TCCATGACCGGGTGTCCTCCCTGACCGGGGTGTCCTCCATGACCGGGGCG TCCTCCATGACCGGGGTGTCCTCTATGACCGGGTGTCCTCCATGACCGGG TGTCCTCCCTGACCGGGGTGTCCTCCCTGACCGGGGTGTCCTCCATGACC GGGTGTCCTCCCTGACCGGGGTGTCCTCCATGACCGGGGTGTCCTCCCTG ACCGGGTGTCCTCCCTGACCG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0002 a0010c0009t0002	a0010c0009t0002g0079 a0010c0009t0002g0079	1	94	0.0106	370	c.144 others(389): Show c.1444-3869_1444-3868insCGGTCAGGGAGGACACCCGGTCAGGG AGGACACCCCGGTCATGGAGGACACCCCGGTCAGGGAGGACACCCGGTCA TGGAGGACACCCCGGTCAGGGAGGACACCCCGGTCAGGGAGGACACCCGG TCATGGAGGACACCCGGTCATAGAGGACACCCCGGTCATGGAGGACGCCC CGGTCATGGAGGACACCCCGGTCAGGGAGGACACCCGGTCATGGAGGACG CCCCGGTCATGGAGGACGCCCCGGTCATGGAGGACGCCCGGTCATGGAGG ACACCCGGTCATGGAGGACACCCCGGTCATGGAGGACACCCGGTCATGGA GGACACCCCGGTCATGGAGGACACCCGGTCAGGGAGGACATCCC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TMEM242_chr6_157284025_157328519	157311087	T T	TAGCCTCA others(363): Show TAGCCTCATCATACTGCCCCAGTGTGCACTCAGCCTCATCATACTACGCC AGTGTGCGCTCACCTGGCCTTATCATAATGCCCCAGTGTGCGCTCACCTG GTCTCATCATAGTGCCCCAGTGTGCGCTGACCTAGCCTCTTCATAGTGTC CCAGTGTGCACTCAACTAGCCTCATCAGAGTGTCCCAGTGTGCGCTCACC TAGCCTCATCATACTGCCCCAGTGTGCACTCACCAAGCCTCCTCATAGTG CCGGAGTGTGCACTCACCTAGCCTCATCACAGTGTCCCAGTGGGCGCTCA CCCGGCCTCATCATAGTGTCCCAGTGTGCACTCACCTAGCCTCATCATAG TGTCCAAGTGAGCGCTCACCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00735.hp2 others(18): Show HG00323.hp1 HG00323.hp2 HG00735.hp2 HG01074.hp1 HG01109.hp2 HG01123.hp2 HG01243.hp1 HG01257.hp1 HG01433.hp2 HG02015.hp2 HG02040.hp2 HG02083.hp2 HG02132.hp1 HG02723.hp2 HG02738.hp1 HG03225.hp2 HG03704.hp2 HG04115.hp2 NA18965.hp1 NA19010.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0009 a0001c0001t0001g0046 a0001c0001t0001g0108 others(17): Show a0001c0001t0001g0009 a0001c0001t0001g0046 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0182 a0001c0001t0003g0162 a0001c0001t0004g0152	21	344	0.0611	370	c.327 others(387): Show c.327+7694_327+7695insGGGTGAGCGCTCACTTGGACACTATGAT GAGGCTAGGTGAGTGCACACTGGGACACTATGATGAGGCCGGGTGAGCGC CCACTGGGACACTGTGATGAGGCTAGGTGAGTGCACACTCCGGCACTATG AGGAGGCTTGGTGAGTGCACACTGGGGCAGTATGATGAGGCTAGGTGAGC GCACACTGGGACACTCTGATGAGGCTAGTTGAGTGCACACTGGGACACTA TGAAGAGGCTAGGTCAGCGCACACTGGGGCACTATGATGAGACCAGGTGA GCGCACACTGGGGCATTATGATAAGGCCAGGTGAGCGCACACTGGCGTAG TATGATGAGGCTGAGTGCACACTGGGGCAGTATGATGAGGCT	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157311087	T T	TAGCCTCA others(363): Show TAGCCTCATCATACTGCCCCAGTGTGCACTCAGCCTCATCATAGTACGCC AGTGTGCGCTCACCTGGCCTTATCATAATGCCCCAGTGTGCGCTCACCTG GTCTCATCATAGTGCCCCAGTGTGCGCTGACCTAGCCTCTTCATAGTGTC CCAGTGTGCACTCAACTAGCCTCATCAGAGTGTCCCAGTGTGCGCTCACC TAGCCTCATCATACTGCCCCAGTGTGCACTCACCAAGCCTCCTCATAGTG CCGGAGTGTGCACTCACCTAGCCTCATCACAGTGTCCCAGTGGGCGCTCA CCCGGCCTCATCATAGTGTCCCAGTGTGCACTCACCTAGCCTCATCATAG TGTCCAAGTGAGCGCTCACCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0317 a0001c0001t0008g0317	1	344	0.0029	370	c.327 others(387): Show c.327+7694_327+7695insGGGTGAGCGCTCACTTGGACACTATGAT GAGGCTAGGTGAGTGCACACTGGGACACTATGATGAGGCCGGGTGAGCGC CCACTGGGACACTGTGATGAGGCTAGGTGAGTGCACACTCCGGCACTATG AGGAGGCTTGGTGAGTGCACACTGGGGCAGTATGATGAGGCTAGGTGAGC GCACACTGGGACACTCTGATGAGGCTAGTTGAGTGCACACTGGGACACTA TGAAGAGGCTAGGTCAGCGCACACTGGGGCACTATGATGAGACCAGGTGA GCGCACACTGGGGCATTATGATAAGGCCAGGTGAGCGCACACTGGCGTAC TATGATGAGGCTGAGTGCACACTGGGGCAGTATGATGAGGCT	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157311087	T T	TAGCCTCA others(363): Show TAGCCTCATCATACTGCCCCAGTGTGCACTCAGCCTCATCATAGTACGCC GGTGTGCGCTCACCTGGCCTTATCATAATGCCCCAGTGTGCGCTCACCTG GTCTCATCATAGTGCCCCAGTGTGCGCTGACCTAGCCTCTTCATAGTGTC CCAGTGTGCACTCAACTAGCCTCATCAGAGTGTCCCAGTGTGCGCTCACC TAGCCTCATCATACTGCCCCAGTGTGCACTCACCAAGCCTCCTCATAGTG CCGGAGTGTGCACTCACCTAGCCTCATCACAGTGTCCCAGTGGGCGCTCA CCCGGCCTCATCATAGTGTCCCAGTGTGCACTCACCTAGCCTCATCATAG TGTCCAAGTGAGCGCTCACCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0074 a0001c0001t0027g0074	1	344	0.0029	370	c.327 others(387): Show c.327+7694_327+7695insGGGTGAGCGCTCACTTGGACACTATGAT GAGGCTAGGTGAGTGCACACTGGGACACTATGATGAGGCCGGGTGAGCGC CCACTGGGACACTGTGATGAGGCTAGGTGAGTGCACACTCCGGCACTATG AGGAGGCTTGGTGAGTGCACACTGGGGCAGTATGATGAGGCTAGGTGAGC GCACACTGGGACACTCTGATGAGGCTAGTTGAGTGCACACTGGGACACTA TGAAGAGGCTAGGTCAGCGCACACTGGGGCACTATGATGAGACCAGGTGA GCGCACACTGGGGCATTATGATAAGGCCAGGTGAGCGCACACCGGCGTAC TATGATGAGGCTGAGTGCACACTGGGGCAGTATGATGAGGCT	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMPRSS2_chr21_41459305_41513158	41474886	A A	AGGTGGTG others(363): Show AGGTGGTGAGTGAGGGGGGTGAGGGGTGAGTGAGGGGGGTGAGGGGTAAG GAGGTGAGGGGGTGGGTGAGGGGTGGGTGAGGTGGTGAGTGAGGGGGTGA GGGGTGAGTGAGGGGGGTGAGGGGTAAGGAGGTGAGGGGGTGGGTGAGGG GTGGGTGAGGTGGTGAGTGAGGGGGTGAGGGGTGAGTGAGGGGGGTGAGG GGTAAGGAGGTGAGGGGGTGGGTGAGGGGTGGGTGAGGTGGTGAGTGAGG GGGTGAGGGGTGAGTGAGGGGGGTGAGGGGTAAGGAGGTGAGGGGGTGGG TGAGGGGTGGGTGAGGTGGTGAGTGAGGGGGTGAGGGGTGAGTGAGGGGG GGTGAGGGGTAAGGAGGTGAG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0086 a0002c0003t0006g0086	1	382	0.0026	370	c.728 others(387): Show c.728-1391_728-1390insCTCACCTCCTTACCCCTCACCCCCCCTC ACTCACCCCTCACCCCCTCACTCACCACCTCACCCACCCCTCACCCACCC CCTCACCTCCTTACCCCTCACCCCCCTCACTCACCCCTCACCCCCTCACT CACCACCTCACCCACCCCTCACCCACCCCCTCACCTCCTTACCCCTCACC CCCCTCACTCACCCCTCACCCCCTCACTCACCACCTCACCCACCCCTCAC CCACCCCCTCACCTCCTTACCCCTCACCCCCCTCACTCACCCCTCACCCC CTCACTCACCACCTCACCCACCCCTCACCCACCCCCTCACCTCCTTACCC CTCACCCCCCTCACTCACCCCTCACCCCCCTCACTCACCACC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TOLLIP_chr11_1269371_1314632	1294476	C C	CCCGCGTG others(363): Show CCCGCGTGGCTCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCC GCATGGCTCAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCGCGTGG CTCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTC ACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACA GTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTG TGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTGTGT CTCCTTTCCCTGCATTTCTACGAAAGCCCGCATGGCTCAGTGTGTCTCCT TTCCCTGCATTTCTACGAAAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0322 a0001c0001t0028g0322	1	348	0.0029	370	c.183 others(387): Show c.183+1168_183+1169insCTTTCGTAGAAATGCAGGGAAAGGAGAC ACACTGAGCCATGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACT GTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTG AGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGC CACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCAC GCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCACGCG GCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGAGCCATGCGGGCTTT CGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCACGCGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1294476	C C	CCCGCGTG others(363): Show CCCGCGTGGCTCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCC GCATGGCTCAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCGCGTGG CTCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCTGCGTGGCTC ACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACA GTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTG TGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTGTGT CTCCTTTCCCTGCATTTCTACGAAAGCCCGCATGGCTCAGTGTGTCTCCT TTCCCTGCATTTCTACGAAAG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG03017.hp1 HG03491.hp2 HG01168.hp1 HG03017.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0001t0004 a0001c0002t0004	a0001c0001t0004g0316 a0001c0002t0004g0310 a0001c0002t0004g0321 a0001c0001t0004g0316 a0001c0002t0004g0310 a0001c0002t0004g0321	3	348	0.0086	370	c.183 others(387): Show c.183+1168_183+1169insCTTTCGTAGAAATGCAGGGAAAGGAGAC ACACTGAGCCATGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACT GTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTG AGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGC CACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCAC GCAGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCACGCG GCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGAGCCATGCGGGCTTT CGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCACGCGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507425	A A	ACACGTGT others(363): Show ACACGTGTATACGTATACACGTGTATACACGTGTATACGCGTGTATACGT GTATACACGTGTATACGCGTGTATACGTGTATACACGTGTATACGCGTGT ATACGTGTATACACGTGTATACGCGTGTATACGTGTATACGTGTATACAC GTGTATACGTGTATACGTGTATACACGTGTATACGTGTATACGTGTGTAT ACATGTATACGTGTATACGTGTGTATACATGTATACGTGTATACGTGTGT ATACATGTGTATACGTGTATACGTGTGTATACATGTGTATACGTGTATAC GTGTGTATACATGTGTATACGTGTATACGTGTGTATACATGTGTATACGT GTATACGTGTGTATACATGTG	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0326 a0001c0001t0011g0326	1	388	0.0026	370	c.-23 others(387): Show c.-23+2622_-23+2623insCACATGTATACACACGTATACACGTATA CACATGTATACACACGTATACACGTATACACATGTATACACACGTATACA CGTATACACATGTATACACACGTATACACGTATACACATGTATACACACG TATACACGTATACATGTATACACACGTATACACGTATACATGTATACACA CGTATACACGTATACACGTGTATACACGTATACACGTATACACGTGTATA CACGTATACACGTATACACGCGTATACACGTGTATACACGTATACACGCG TATACACGTGTATACACGTATACACGCGTATACACGTGTATACACGTATA CACGCGTATACACGTGTATACACGTGTATACGTATACACGTG	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRPM7_chr15_50552158_50691797	50564251	A A	AATAAAAT others(363): Show AATAAAATAAAATAACATAACATAACATAACATAACATAACATAAAATAA CATAAAATAACATAAAATAACATAAAATAACATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAACATAAAATAACATAAAATAA CATAAAATAACATAAAATAACATAACATAAAATAACATAACATAAAATAA CATAACATAAAATAACATAACATAAAATAACATAACATAAAATAACATAA CATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA CATAAAATAACATAACATAAAATAACATAACATAAAATAACATAACATAA AATAACATAAAATAACATAAC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0296 a0002c0003t0012g0296	1	352	0.0028	370	c.546 others(389): Show c.5468-2444_5468-2443insGTTATGTTATTTTATGTTATTTTATG TTATGTTATTTTATGTTATGTTATTTTATGTTATGTTATTTTATGTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATGTTATG TTATTTTATGTTATGTTATTTTATGTTATGTTATTTTATGTTATGTTATT TTATGTTATGTTATTTTATGTTATGTTATTTTATGTTATTTTATGTTATT TTATGTTATTTTATGTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATGTTATTTTATGTTATTTTATGTTATTTTATGTTATT TTATGTTATGTTATGTTATGTTATGTTATGTTATTTTATTTTAT	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	38/38			chr15	TogoVar
TRPM7_chr15_50552158_50691797	50564251	A A	AATAAAAT others(363): Show AATAAAATAAAATAACATAACATAACATAACATAACATAACATAACATAA CATAACATAACATAAAATAACATAAAATAACATAAAATAACATAAAATAA CATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAACATAA AATAACATAAAATAACATAAAATAACATAAAATAACATAACATAAAATAA CATAACATAAAATAACATAACATAAAATAACATAACATAAAATAACATAA CATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA CATAAAATAACATAACATAAAATAACATAACATAAAATAACATAACATAA AATAACATAAAATAACATAAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0294 a0002c0003t0003g0294	1	352	0.0028	370	c.546 others(389): Show c.5468-2444_5468-2443insGTTATGTTATTTTATGTTATTTTATG TTATGTTATTTTATGTTATGTTATTTTATGTTATGTTATTTTATGTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATGTTATG TTATTTTATGTTATGTTATTTTATGTTATGTTATTTTATGTTATGTTATT TTATGTTATGTTATTTTATGTTATTTTATGTTATTTTATGTTATTTTATG TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATGTTATT TTATGTTATTTTATGTTATTTTATGTTATTTTATGTTATGTTATGTTATG TTATGTTATGTTATGTTATGTTATGTTATGTTATTTTATTTTAT	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	38/38			chr15	TogoVar
TSHZ2_chr20_52967358_53500330	53204098	G G	GATATGCT others(363): Show GATATGCTATTATATCATCATATGATGATATACTATTATATCATCATATG ATGATATGATACTATATCATCATATGATGATATGATACTATATCATCATA TGATGATATGATACTATATCATCATATGATGATATGATACTATATCATCA TATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATATGATACTATATCATCATATGATGATATGATACTATATCATCATA TGATGATATGATACTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATATACTATATCATC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0026 a0001c0001t0052g0026	1	174	0.0058	370	c.41- others(387): Show c.41-49396_41-49395insCTATTATATCATCATATGATGATATACT ATTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATATACTATATCATCATATG	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TWIST2_chr2_238843085_238915534	238871076	C C	CACACACA others(363): Show CACACACACCCACACCCCACACACACATCACATACCCCACACACCACACA CCCCACACACACCACACACCCCCCACACACCACACACCCCCACACACACC ACACCCCACACACACCACCACACCCCCACACACCACACACCCCACACACA CCACACAAACACACACCCTACACACCCCACACACACCACACACACACATC ACATACCACACACACATCACATACCACACACAAACCACACACCACACACA CACCACACACCCCACACACACATCACATACCACACACAAACCACACACCC CACACACACCACACACCCCACACCCCACACACACCACACCCCACACACAC CCCCCCACACACCACCACACA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	338	0.0030	370	c.35 others(389): Show c.35+22343_*35+22344insACACACACCCACACCCCACACACACA TCACATACCCCACACACCACACACCCCACACACACCACACACCCCCCACA CACCACACACCCCCACACACACCACACCCCACACACACCACCACACCCCC ACACACCACACACCCCACACACACCACACAAACACACACCCTACACACCC CACACACACCACACACACACATCACATACCACACACACATCACATACCAC ACACAAACCACACACCACACACACACCACACACCCCACACACACATCACA TACCACACACAAACCACACACCCCACACACACCACACACCCCACACCCCA CACACACCACACCCCACACACACCCCCCCACACACCACCACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
UBE4A_chr11_118354600_118404211	118355852	C C	CACATATA others(363): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACA CACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACG CATACACACACATATATGTGTGTGTATACGCATACACACATATATGTGTG TGTATACGCATACACACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	320	0.0031	370	c.-38 others(381): Show c.-3864_-3863insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTGT GTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACAT ATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATACGCATAC ACACATATATGTGTGTGTATACGCATACACACATAT	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3747		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355852	C C	CACATATA others(363): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACA CACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACG CATACACACACATATGTGTGTGTATACGCATACACACACATATATGTGTG TGTATACGCATACACACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	320	0.0031	370	c.-38 others(381): Show c.-3864_-3863insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTGT GTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACAT ATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACAC ACACATATATGTGTGTGTATACGCATACACACATAT	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3747		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355852	C C	CACATATA others(363): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACA CACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATA CGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTG TGTATACGCATACACACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	320	0.0031	370	c.-38 others(381): Show c.-3864_-3863insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTGT GTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACACAT ATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATAC ACACATATATGTGTGTGTATACGCATACACACATAT	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3747		chr11	TogoVar

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