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
SLC44A3_chr1_94815357_94900246	94877129	T T	TAAAAAAA others(298): Show TAAAAAAAAGGTCGGGGTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG CGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGC GCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01123.hp1 HG01175.hp2 others(4): Show HG00639.hp1 HG01123.hp1 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0047 others(4): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0218 a0001c0001t0001g0258 a0001c0001t0001g0291	7	306	0.0229	305	c.148 others(324): Show c.1482+9728_1482+9729insTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGT GGCGGGCGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAGGTCGGGG	SLC44A3	ENSG00000143036.17	transcript	ENST00000271227.11	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC6A3_chr5_1387794_1450440	1414408	T T	TGGAGGGT others(298): Show TGGAGGGTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCAGGGAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGC ACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGG GCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGC AGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAG GCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGG GGGCCG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0279 a0001c0002t0004g0279	1	309	0.0032	305	c.115 others(322): Show c.1156+282_1156+283insCGGCCCCCCACCCAGTGCCTTCCCTGCC CTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCG GCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCA GTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTT CCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCC AGGCCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCAC CCAGTGCCTTCTCCGCCCTGACCCTCC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SOCS5_chr2_46694295_46768129	46701811	T T	TTTTTTTT others(298): Show TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGACTGCAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01346.hp2 HG01361.hp2 others(12): Show HG01069.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG02735.hp1 HG03831.hp1 NA18747.hp1 NA18943.hp1 NA18978.hp1 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0009 a0001c0002 a0001c0003 a0001c0009	a0001c0002t0010 a0001c0003t0005 a0001c0009t0005 a0001c0002t0010 a0001c0003t0005 a0001c0009t0005	a0001c0002t0010g0016 a0001c0002t0010g0088 a0001c0002t0010g0091 others(8): Show a0001c0002t0010g0016 a0001c0002t0010g0088 a0001c0002t0010g0091 a0001c0003t0005g0011 a0001c0003t0005g0015 a0001c0003t0005g0031 a0001c0003t0005g0044 a0001c0003t0005g0089 a0001c0003t0005g0090 a0001c0003t0005g0092 a0001c0009t0005g0031	15	143	0.1049	305	c.-13 others(322): Show c.-13+2365_-13+2366insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCC AAGTAGCTGGGACTGCAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTTT	SOCS5	ENSG00000171150.9	transcript	ENST00000394861.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
SORCS3_chr10_104636290_105270242	104696353	T T	TATACACA others(298): Show TATACACATATGATATATGATATATATCATATACACATATGATATATGAT ATATATCATATACACATATGATATATGATATATATCATATACACATATGA TATATGATATATATCATATACACATATGATATATGATATATATCATATAC ACATATGATATATGATATATATCATATACACATATGATATATGATATATA TCATATACACATATGATATATGATATATATCATATACACATATGATATAT GATATATATCATATACACATATGATATATGATATATATCATATACACATA TATATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	28	0.0357	305	c.627 others(324): Show c.627+54402_627+54403insCACATATGATATATGATATATATCAT ATACACATATGATATATGATATATATCATATACACATATGATATATGATA TATATCATATACACATATGATATATGATATATATCATATACACATATGAT ATATGATATATATCATATACACATATGATATATGATATATATCATATACA CATATGATATATGATATATATCATATACACATATGATATATGATATATAT CATATACACATATGATATATGATATATATCATATACACATATGATATATG ATATATATCATATACACATATATATAATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SPAAR_chr9_35904490_35916686	35913767	T T	TGTGTATT others(298): Show TGTGTATTTTTTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGA GTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTA GTGTGTATTTTGTTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGT GAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTG TAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTG TAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGCTGTATG TGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	415	0.0024	305	c.30 others(316): Show c.3076_*3077insGTGTATTTTTTATGCTGTGGTGTGTGTGTAAGTT GTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTA AGCTGTATGTGTGTAGTGTGTATTTTGTTATGCTGTGGTGTGTGTGTAAG TTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTG TGTGTAAGCTGTATGTGTGTA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2082		chr9	TogoVar
SPAAR_chr9_35904490_35916686	35913767	T T	TGTGTATT others(298): Show TGTGTATTTTTTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGA GTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTA GTGTGTATTTTTTTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGT GAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTG TAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTG TAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGCTGTATG TGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG02922.hp1 HG03486.hp1 HG01496.hp2 HG02922.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	417	0.0072	305	c.30 others(316): Show c.3076_*3077insGTGTATTTTTTATGCTGTGGTGTGTGTGTAAGTT GTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTA AGCTGTATGTGTGTAGTGTGTATTTTTTTATGCTGTGGTGTGTGTGTAAG TTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTG TGTGTAAGCTGTATGTGTGTA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2082		chr9	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TAATGATA others(298): Show TAATGATATATAATATATATCATTATATAACATATAATGATATATAATAT ATATCATTATATAACATATAATGATATATAATATATATCATTATATAACA TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATTATATAAC ATGATG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01175.hp1 HG01358.hp2 others(2): Show HG01123.hp2 HG01175.hp1 HG01358.hp2 HG01433.hp1 HG02040.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0001c0003 a0003c0014 others(1): Show a0001c0002 a0001c0003 a0003c0014 a0004c0027	a0001c0002t0009 a0001c0002t0084 a0001c0003t0063 others(2): Show a0001c0002t0009 a0001c0002t0084 a0001c0003t0063 a0003c0014t0024 a0004c0027t0004	a0001c0002t0009g0345 a0001c0002t0084g0102 a0001c0003t0063g0258 others(2): Show a0001c0002t0009g0345 a0001c0002t0084g0102 a0001c0003t0063g0258 a0003c0014t0024g0146 a0004c0027t0004g0064	5	58	0.0862	305	c.-11 others(326): Show c.-112+29223_-112+29224insATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATTATATAACATGATGA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(298): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCAAA GTGCTGGGATTACAGGCATCAGTCACTGTGCCTGGCTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGCACGC AGTTGT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	177	0.0056	305	c.245 others(322): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCAAAGTGCTGGGATTACAGGCATCAGTCACTGTGCCTGGC TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGC CAAGGCTGGCACGCAGTTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(298): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTACAGGCATGAGTCACTGTGCCTGGCTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGCACGC AGTTGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0338 a0001c0001t0003g0338	1	177	0.0056	305	c.245 others(322): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACTGTGCCTGG CTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGC CAAGGCTGGCACGCAGTTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(298): Show AGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGAGGGAGGGGAGGGGAGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAG GGGGAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0077 a0003c0003t0002g0077	1	6	0.1667	305	c.138 others(324): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCTCCCCTCCCCTCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SRP54_chr14_34977992_35034567	35009343	G G	GCCACACA others(298): Show GCCACACACATATTCTTTGTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGC	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0200 a0001c0001t0003g0200	1	301	0.0033	305	c.485 others(320): Show c.485+522_485+523insATTCTTTGTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCCACACACAT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRXN1_chr20_641615_658200	642169	G G	GGGCCCAG others(298): Show GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGT TGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCG GGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGG GGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCC CAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGTGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0041 a0001c0001t0010g0041	1	411	0.0024	305	c.65 others(316): Show c.6544_*6545insACCACAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCG CTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAA CCCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACC CCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGG CAACTCCACCCCCGCTGGGCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4445		chr20	TogoVar
SS18L1_chr20_62138769_62187514	62166667	A A	ATAATCCC others(298): Show ATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGCCAG GAATTTGAGACCAGCCTGACCAACGTGGCGAAACCCCATCTCTACCAAAA AATACAAATATTAGCTGGCCATGGTGGTGCACGCCTGTAGTCCCAGTTAC TCAGGCGGAGGCGGGAGAATCGCTTAAACCTGGGAAGTGGAGGTTGCAGT GAGCCGAGATCGTGCCACTGCATTCCAGCCTTGCGACAGGATAAGACCCT GTCTCAAAAAAAAAAAAAAAAAAAAAAAATTAGCTCGGTGCATTAGTTCA CACCTG	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA19043.hp1 HG02895.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0032 a0001c0002t0004g0261 a0001c0002t0004g0032 a0001c0002t0004g0261	2	230	0.0087	305	c.916 others(322): Show c.916+1168_916+1169insGGGAGGCCAAGGCAGGCGGATCACTTGA GGCCAGGAATTTGAGACCAGCCTGACCAACGTGGCGAAACCCCATCTCTA CCAAAAAATACAAATATTAGCTGGCCATGGTGGTGCACGCCTGTAGTCCC AGTTACTCAGGCGGAGGCGGGAGAATCGCTTAAACCTGGGAAGTGGAGGT TGCAGTGAGCCGAGATCGTGCCACTGCATTCCAGCCTTGCGACAGGATAA GACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAATTAGCTCGGTGCATT AGTTCACACCTGTAATCCCAGCACTTT	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
ST3GAL3_chr1_43702536_43936159	43904942	C C	CCTCCCCC others(298): Show CCTCCCCCTCCTCCTGCTCCTCTTCCCACCACTCTTCCTCCCCCACCTGC TGCTCCTCTTCCCGCCACTCTTCCTCCCCCGCCTGCTGCTCCTCTTCCCA CCACTCTCCCTCCCTCTCCTCCTGCTCCTCTTCCCGCCACTCTTCCTCCC CCTCCTCCTGCTCGTCTTCCTGCCACTCTTCCTCCCTCTCCTCCTGTTCC TCTTCCTGCCACTCTTTCCCCTCCTCCTGCTCCTATTCCTGCCACTCTTC CTTCCCTTCCTCCTGCTCCTATTCCTGCCACTCTCCCTTCCCCTCCTCCT GCTCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG01358.hp1 others(26): Show HG00099.hp2 HG00544.hp2 HG01358.hp1 HG01952.hp1 HG01978.hp1 HG02015.hp1 HG02083.hp2 HG02602.hp2 HG02738.hp1 HG03710.hp1 HG03831.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18949.hp1 NA18964.hp2 NA18968.hp2 NA18971.hp1 NA18973.hp2 NA18979.hp1 NA18990.hp1 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19056.hp2 NA19064.hp1 NA19068.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 others(26): Show a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0239 a0001c0001t0002g0181 a0001c0001t0002g0185	29	60	0.4833	305	c.744 others(322): Show c.744+5217_744+5218insCCCCCTCCTCCTGCTCCTCTTCCCACCA CTCTTCCTCCCCCACCTGCTGCTCCTCTTCCCGCCACTCTTCCTCCCCCG CCTGCTGCTCCTCTTCCCACCACTCTCCCTCCCTCTCCTCCTGCTCCTCT TCCCGCCACTCTTCCTCCCCCTCCTCCTGCTCGTCTTCCTGCCACTCTTC CTCCCTCTCCTCCTGTTCCTCTTCCTGCCACTCTTTCCCCTCCTCCTGCT CCTATTCCTGCCACTCTTCCTTCCCTTCCTCCTGCTCCTATTCCTGCCAC TCTCCCTTCCCCTCCTCCTGCTCCTCT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43904942	C C	CCTCCCCC others(298): Show CCTCCCCCTCCTCCTGCTCCTCTTCCCGCCACTCTTCCTCCCCCACCTGC TGCTCCTCTTCCCGCCACTCTTCCTCCCCCGCCTGCTGCTCCTCTTCCCA CCACTCTCCCTCCCTCTCCTCCTGCTCCTCTTCCCGCCACTCTTCCTCCC CCTCCTCCTGCTCGTCTTCCTGCCACTCTTCCTCCCTCTCCTCCTGTTCC TCTTCCTGCCACTCTTTCCCCTCCTCCTGCTCCTATTCCTGCCACTCTTC CTTCCCTTCCTCCTGCTCCTATTCCTGCCACTCTCCCTTCCCCTCCTCCT GCTCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp2 others(186): Show HG00099.hp1 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18951.hp2 NA18954.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19062.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0039 others(186): Show a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0225 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0274 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0032 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0149 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0234 a0001c0001t0003g0071 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0148 a0001c0001t0003g0192 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0005g0006 a0001c0001t0005g0007	189	220	0.8591	305	c.744 others(322): Show c.744+5217_744+5218insCCCCCTCCTCCTGCTCCTCTTCCCGCCA CTCTTCCTCCCCCACCTGCTGCTCCTCTTCCCGCCACTCTTCCTCCCCCG CCTGCTGCTCCTCTTCCCACCACTCTCCCTCCCTCTCCTCCTGCTCCTCT TCCCGCCACTCTTCCTCCCCCTCCTCCTGCTCGTCTTCCTGCCACTCTTC CTCCCTCTCCTCCTGTTCCTCTTCCTGCCACTCTTTCCCCTCCTCCTGCT CCTATTCCTGCCACTCTTCCTTCCCTTCCTCCTGCTCCTATTCCTGCCAC TCTCCCTTCCCCTCCTCCTGCTCCTCT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43904942	C C	CCTCCCCC others(298): Show CCTCCCCCTCCTCCTGCTCCTCTTCCCGCCACTCTTCCTCCCCCACCTGC TGCTCCTCTTCCCGCCACTCTTCCTCCCCCGCCTGCTGCTCCTCTTCCCA CCACTCTCCCTCCCTCTCCTCCTGCTCCTCTTCCCGCCACTCTTCCTCCC CCTCCTCCTGCTCGTCTTCCTGCCACTCTTCCTCCCTCTCCTCCTGTTCC TCTTCCTGCCACTCTTTCCCCTCCTCCTGCTCCTATTCCTGCCACTCTTC CTTCCCTTCCTCCTGCTCCTATTCCTGCCACTCTCCCTTCCCCTCCTCCT GGTCCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02615.hp2 others(6): Show HG01891.hp2 HG02145.hp2 HG02615.hp2 HG02647.hp1 HG02809.hp1 HG02976.hp1 HG03195.hp1 HG06807.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 others(6): Show a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0006g0060	9	40	0.2250	305	c.744 others(322): Show c.744+5217_744+5218insCCCCCTCCTCCTGCTCCTCTTCCCGCCA CTCTTCCTCCCCCACCTGCTGCTCCTCTTCCCGCCACTCTTCCTCCCCCG CCTGCTGCTCCTCTTCCCACCACTCTCCCTCCCTCTCCTCCTGCTCCTCT TCCCGCCACTCTTCCTCCCCCTCCTCCTGCTCGTCTTCCTGCCACTCTTC CTCCCTCTCCTCCTGTTCCTCTTCCTGCCACTCTTTCCCCTCCTCCTGCT CCTATTCCTGCCACTCTTCCTTCCCTTCCTCCTGCTCCTATTCCTGCCAC TCTCCCTTCCCCTCCTCCTGGTCCTCT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43904942	C C	CCTCCCCC others(298): Show CCTCCCCCTCCTCCTGCTCCTCTTCCCGCCACTCTTCCTCCCCCACCTGC TGCTCCTCTTCCCGCCACTCTTCCTCCCCCGCCTGCTGCTCCTCTTCCCA CCACTCTCTCTCCCTCTCCTCCTGCTCCTCTTCCCGCCACTCTTCCTCCC CCTCCTCCTGCTCGTCTTCCTGCCACTCTTCCTCCCTCTCCTCCTGTTCC TCTTCCTGCCACTCTTTCCCCTCCTCCTGCTCCTATTCCTGCCACTCTTC CTTCCCTTCCTCCTGCTCCTATTCCTGCCACTCTCCCTTCCCCTCCTCCT GCTCCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02818.hp2 HG02615.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0203 a0001c0001t0003g0204	2	33	0.0606	305	c.744 others(322): Show c.744+5217_744+5218insCCCCCTCCTCCTGCTCCTCTTCCCGCCA CTCTTCCTCCCCCACCTGCTGCTCCTCTTCCCGCCACTCTTCCTCCCCCG CCTGCTGCTCCTCTTCCCACCACTCTCTCTCCCTCTCCTCCTGCTCCTCT TCCCGCCACTCTTCCTCCCCCTCCTCCTGCTCGTCTTCCTGCCACTCTTC CTCCCTCTCCTCCTGTTCCTCTTCCTGCCACTCTTTCCCCTCCTCCTGCT CCTATTCCTGCCACTCTTCCTTCCCTTCCTCCTGCTCCTATTCCTGCCAC TCTCCCTTCCCCTCCTCCTGCTCCTCT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43904942	C C	CCTCCCCC others(298): Show CCTCCCCCTCCTCCTGCTCCTCTTCCCGCCACTCTTCCTCCCCCATCTGC TGCTCCTCTTCCCGCCACTCTTCCTCCCCCGCCTGCTGCTCCTCTTCCCA CCACTCTCCCTCCCTCTCCTCCTGCTCCTCTTCCCGCCACTCTTCCTCCC CCTCCTCCTGCTCGTCTTCCTGCCACTCTTCCTCCCTCTCCTCCTGTTCC TCTTCCTGCCACTCTTTCCCCTCCTCCTGCTCCTATTCCTGCCACTCTTC CTTCCCTTCCTCCTGCTCCTATTCCTGCCACTCTCCCTTCCCCTCCTCCT GCTCCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	32	0.0313	305	c.744 others(322): Show c.744+5217_744+5218insCCCCCTCCTCCTGCTCCTCTTCCCGCCA CTCTTCCTCCCCCATCTGCTGCTCCTCTTCCCGCCACTCTTCCTCCCCCG CCTGCTGCTCCTCTTCCCACCACTCTCCCTCCCTCTCCTCCTGCTCCTCT TCCCGCCACTCTTCCTCCCCCTCCTCCTGCTCGTCTTCCTGCCACTCTTC CTCCCTCTCCTCCTGTTCCTCTTCCTGCCACTCTTTCCCCTCCTCCTGCT CCTATTCCTGCCACTCTTCCTTCCCTTCCTCCTGCTCCTATTCCTGCCAC TCTCCCTTCCCCTCCTCCTGCTCCTCT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SULT1B1_chr4_69716167_69765620	69719752	T T	TAAGAAAA others(298): Show TAAGAAAATTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGAGGTGGTGGACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATCGC ACCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAA AAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0200 a0001c0001t0063g0200	1	371	0.0027	305	c.73 others(316): Show c.7335_*7336insTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTC GCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAGGCTCCGCC CCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGTCCACCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTAATTTTCTT	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1414		chr4	TogoVar
SYK_chr9_90796819_90903549	90884884	T T	TATATACA others(298): Show TATATACATATATACATATATACACATATGTGTATATATACATATATATA CACATATATATGTATATATACACATATGTGTACATATGTGTATATATACA TATATACACATATATATGTATATATACACATATGTGAATATATATGTGTT ATATATACACATATGTGTATATGTATATATGTATATATACACATATGTGT ATATATACATATATACATATACACATATGTGTATATATAACACATATATA TACACATATGTGTATATATACATATATACATATACACATATGTGTATATA TAACAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA20129.hp1 NA18906.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0065 a0001c0001t0009g0171 a0001c0001t0009g0065 a0001c0001t0009g0171	2	31	0.0645	305	c.158 others(324): Show c.1582-2860_1582-2859insCATATATACATATATACACATATGTG TATATATACATATATATACACATATATATGTATATATACACATATGTGTA CATATGTGTATATATACATATATACACATATATATGTATATATACACATA TGTGAATATATATGTGTTATATATACACATATGTGTATATGTATATATGT ATATATACACATATGTGTATATATACATATATACATATACACATATGTGT ATATATAACACATATATATACACATATGTGTATATATACATATATACATA TACACATATGTGTATATATAACACATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TACR1_chr2_75041463_75204520	75160764	T T	TAAGACAT others(298): Show TAAGACATAACAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTAAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp1 HG03139.hp2 others(1): Show HG02572.hp1 HG02723.hp1 HG03139.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0004 a0001c0001t0001 a0001c0001t0003 a0001c0003t0004	a0001c0001t0001g0097 a0001c0001t0003g0042 a0001c0001t0003g0077 others(1): Show a0001c0001t0001g0097 a0001c0001t0003g0042 a0001c0001t0003g0077 a0001c0003t0004g0129	4	161	0.0248	305	c.389 others(324): Show c.389+37781_389+37782insTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTCTGTTATGTCTT	TACR1	ENSG00000115353.11	transcript	ENST00000305249.10	protein_coding	1/4			chr2	TogoVar
TBCE_chr1_235362427_235457443	235412135	C C	CATCCCTT others(298): Show CATCCCTTTCCCTTCCCATCCCTTTCCCTTCCCATCCCTTTCCCTTCCCA TCCCTTTCCCTTCTCCTCCCCTTCCCCTCCCCTCCCGCTCCCCTCCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCC CTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCTCCCCCCTCCCCCC CTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCTCCCCTC CCCCCT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01261.hp2 HG02257.hp1 others(9): Show HG00733.hp2 HG01261.hp2 HG02257.hp1 HG02622.hp2 HG02647.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp1 HG03041.hp2 HG03453.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0124 a0001c0001t0005g0160 a0001c0001t0005g0163 others(9): Show a0001c0001t0005g0124 a0001c0001t0005g0160 a0001c0001t0005g0163 a0001c0001t0005g0164 a0001c0001t0005g0165 a0001c0001t0005g0166 a0001c0001t0005g0167 a0001c0001t0005g0168 a0001c0001t0005g0169 a0001c0001t0005g0170 a0001c0001t0005g0184 a0001c0001t0005g0186	12	256	0.0469	305	c.186 others(322): Show c.186-2298_186-2297insATCCCTTTCCCTTCCCATCCCTTTCCCT TCCCATCCCTTTCCCTTCCCATCCCTTTCCCTTCTCCTCCCCTTCCCCTC CCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCCTTCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCT CCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCC TCCCCCCTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCCTCCCCCCTCCCCTCCCCCCT	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16			chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(298): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCT CCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCTT CCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCTGTCCCCTCCTCTCCCCTC CCCCCT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0153 a0001c0001t0003g0153	1	160	0.0063	305	c.186 others(322): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCC CCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCC CTTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCT GTCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(298): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCTCTCCCTTCCCCCCTC CCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCTT CCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTC CCCCCT	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA18950.hp2 NA18970.hp1 HG02300.hp1 NA18950.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0033 a0001c0001t0001g0105 a0001c0001t0007g0142 a0001c0001t0001g0033 a0001c0001t0001g0105 a0001c0001t0007g0142	3	162	0.0185	305	c.186 others(322): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCC CCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCC CTTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCC GTCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(298): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCTC CCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCTT CCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTC CCCCCT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01123.hp1 HG01070.hp1 HG01071.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0114 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0114	3	162	0.0185	305	c.186 others(322): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCC CCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCC CTTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCC GTCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(298): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCTC CCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCTT CCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTC CCCCCT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	160	0.0063	305	c.186 others(322): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCC CCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCC CTTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCC GTCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(298): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCTCCCCCTCCTCTCCCTT CCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCTC CCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCTT CCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTC CCCCCT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	160	0.0063	305	c.186 others(322): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCC CCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCC CTTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCC GTCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(298): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCGCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCCTCCCCCCTCCCCCTCCTCTCCC TTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCT CCCCCCTCCCCTCCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCTT CCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTC CCCCCT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	160	0.0063	305	c.186 others(322): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCGCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCCTCCC CCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCC CCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCCTCCCCCTCCTCTC CCTTCCCCCCCTCTCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCC GTCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TCF3_chr19_1604292_1657615	1627847	G G	GTGAGGCG others(298): Show GTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGA CAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGG GGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGG GGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA CGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAG GGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAC AGGGGA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0056 a0001c0002t0056	a0001c0002t0056g0280 a0001c0002t0056g0280	1	324	0.0031	305	c.299 others(320): Show c.299-422_299-421insTCCCCTGTGAGCTCTGCTGTCCCCTTCCCG CCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTC TGCTGTCCCCTTCCCGCCCCACCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAG CTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCC CGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGA GCTCTGCTGTCCCCTTCCCGCCTCA	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628496	G G	GGGGTGAG others(298): Show GGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAAGGGACAGCAGAACTC ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGATGCGGG AAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGTAGAGCT CACAGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGA GCTCAC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0032 a0003c0006t0032	a0003c0006t0032g0129 a0003c0006t0032g0129	1	332	0.0030	305	c.299 others(322): Show c.299-1071_299-1070insGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTA CTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTACTGTCCCCTTCCCGC CTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCATCACCCCCTGTGAGCT CTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCTTTCCCG CCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAG TTCTGCTGTCCCCTTCCCGCCTCACCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628736	A A	AGGGGGTG others(298): Show AGGGGGTGAGGCGGGAAAGGGACAGCAGAACTCACGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCA CGGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGA AGGGGACAGCAGAGCTCATGGGGATGGGGCGGGAAGGGGACAGCAGAGCT CACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGG GAAGGGGACAGCAGAGCTCATGGGGATGGGGCGGGAAGGGGACAGCAGAG CTCACG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0104 a0001c0004t0003g0104	1	312	0.0032	305	c.299 others(322): Show c.299-1311_299-1310insCGTGAGCTCTGCTGTCCCCTTCCCGCCC CATCCCCATGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCT GCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGC CCCATCCCCATGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCT CTGCTGTCCCCTTCCCACCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCC ACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTT CTGCTGTCCCTTTCCCGCCTCACCCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628838	C C	CAGGGGGT others(298): Show CAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGA AGGGGACAGCAGAGCTCATGGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CATGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGC TCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGG GAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0085 a0002c0001t0007g0085	1	156	0.0064	305	c.299 others(322): Show c.299-1413_299-1412insCTGTGAGCTCTGCTGTCCCCTTCCCGCC TCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCC CCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCCATGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCCATGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTC TGCTGTCCCCTTCCCGCCTCACCCCCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
THSD4_chr15_71110471_71788383	71199705	T T	TGTGTGGT others(298): Show TGTGTGGTATGTGTGTGTGATGCATGTGTGTGTGGTGTGTGTGGGTGTGT GTGATGTGTGGTGTGTGTGTGGTGTGTGTGGTGTCTGGGTGTGTGGTGTG TGTGTGTAGTGTGTGTGTAGTGTGTGTGGGTGTGTGTGATGTGTGTGGTG TGTGTGGTGTGTGGGTGTGTGCTGTGTGTGTGCTGTGTGTGTGCTGTGTG TGTGTGATGCACGTGTGGGGTGTGTGTGTGTGTGCTGTGTGTGATGCATG TGTGGGGTGTGTGTGTGTGTGGTGCATGTGTGGTATGTGTGTGTGGTGCA TGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0031 a0001c0003t0031	a0001c0003t0031g0064 a0001c0003t0031g0064	1	93	0.0108	305	c.100 others(324): Show c.100-15329_100-15328insTGTGGTATGTGTGTGTGATGCATGTG TGTGTGGTGTGTGTGGGTGTGTGTGATGTGTGGTGTGTGTGTGGTGTGTG TGGTGTCTGGGTGTGTGGTGTGTGTGTGTAGTGTGTGTGTAGTGTGTGTG GGTGTGTGTGATGTGTGTGGTGTGTGTGGTGTGTGGGTGTGTGCTGTGTG TGTGCTGTGTGTGTGCTGTGTGTGTGTGATGCACGTGTGGGGTGTGTGTG TGTGTGCTGTGTGTGATGCATGTGTGGGGTGTGTGTGTGTGTGGTGCATG TGTGGTATGTGTGTGTGGTGCATGTGTGG	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
TLK1_chr2_170985823_171165893	171033547	T T	TAAAATAA others(298): Show TAAAATAACCAAGAGTATGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGACCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	263	0.0038	305	c.117 others(324): Show c.1170-5143_1170-5142insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGAGTGCAGTGGCGGGATCTCGGGTCACTGCAAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCC CGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCATACTCTTGGTTATTTT	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding	11/20			chr2	TogoVar
TMC1_chr9_72516608_72843297	72835691	T T	TGTTACAA others(298): Show TGTTACAAAAAAGGCCGAGGCGGGTGGATCATGAGGTCGGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCTGA GATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0092 a0002c0002t0019g0092	1	173	0.0058	305	c.226 others(322): Show c.2261-248_2261-247insGCCGAGGCGGGTGGATCATGAGGTCGGG AGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCA GTGAGCTGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAGTTACAAAAAAG	TMC1	ENSG00000165091.18	transcript	ENST00000297784.10	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr9	TogoVar
TMEFF2_chr2_191944046_192199933	192131039	C C	CGCTTTTC others(298): Show CGCTTTTCTGGGGAAGGGGCAAGTACCCCAACCCCTTCTCTCCTTGTCTC TACCCCTTCTCTGCTTTTCTGGGAAAAGGGCAAGTACCCCAACCCCTTCT CTCCTTGTCTCTACCCCTTCTCTGCTTTTCTGGGGAAGGGGCAAGTACCC CAACCCCTTCTCTCCTTGTCTCTACCCCTTCTCTGCTTTTCTGGGAAAAG GGCAAGTACCCCAACCCCTTCTCTCCTTGTCTCTACCCCTTCTCTGCTTT TCTGGGAAAAGGGCAAGTACCCCAACCCCTTCTCTCCTTGTCTCTACCCC TTCTCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG01192.hp1 others(39): Show HG00280.hp1 HG00408.hp2 HG01192.hp1 HG01884.hp1 HG01943.hp2 HG01975.hp2 HG02145.hp2 HG02148.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02965.hp1 HG03130.hp2 HG03209.hp2 HG03579.hp2 HG03654.hp1 HG03831.hp2 HG06807.hp1 NA18906.hp1 NA18946.hp1 NA18946.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18970.hp1 NA18979.hp2 NA18982.hp2 NA18992.hp2 NA18998.hp1 NA19002.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011	a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0023 others(39): Show a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0002g0008 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0004g0005 a0001c0001t0005g0157 a0001c0001t0005g0158 a0001c0001t0005g0159 a0001c0001t0006g0110 a0001c0001t0011g0137	42	49	0.8571	305	c.439 others(324): Show c.439+48628_439+48629insAGAGAAGGGGTAGAGACAAGGAGAGA AGGGGTTGGGGTACTTGCCCTTTTCCCAGAAAAGCAGAGAAGGGGTAGAG ACAAGGAGAGAAGGGGTTGGGGTACTTGCCCTTTTCCCAGAAAAGCAGAG AAGGGGTAGAGACAAGGAGAGAAGGGGTTGGGGTACTTGCCCCTTCCCCA GAAAAGCAGAGAAGGGGTAGAGACAAGGAGAGAAGGGGTTGGGGTACTTG CCCTTTTCCCAGAAAAGCAGAGAAGGGGTAGAGACAAGGAGAGAAGGGGT TGGGGTACTTGCCCCTTCCCCAGAAAAGC	TMEFF2	ENSG00000144339.12	transcript	ENST00000272771.10	protein_coding	4/9			chr2	TogoVar
TMEM132B_chr12_125181386_125667369	125612926	T T	TTGTATAA others(298): Show TTGTATAAAAATATATATATCATATATATTTATATATTATATAAAAATAT ATATATCATATATATTTATATATTATATAAAAATATATATATCATATATA TTTATATATTATATAAAAATATATATATCATATATATTTATATATTATAT ATTATATATTTATATTTTATTTTTATATTTATATTATATATATTTTTTAT ATTTATATTTATATATCATATTATATTTATATATTATATAAAAATATATA TCATATATATTTATATATTATATAAAAATATATATCATATATATTTATAT ATTATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0064 a0001c0003t0011g0064	1	96	0.0104	305	c.143 others(326): Show c.1437+28933_1437+28934insGTATAAAAATATATATATCATATA TATTTATATATTATATAAAAATATATATATCATATATATTTATATATTAT ATAAAAATATATATATCATATATATTTATATATTATATAAAAATATATAT ATCATATATATTTATATATTATATATTATATATTTATATTTTATTTTTAT ATTTATATTATATATATTTTTTATATTTATATTTATATATCATATTATAT TTATATATTATATAAAAATATATATCATATATATTTATATATTATATAAA AATATATATCATATATATTTATATATTATAT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TOPAZ1_chr3_44236886_44337098	44298800	G G	GAAAAAAT others(298): Show GAAAAAATAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0001 a0002c0026t0001	a0002c0026t0001g0230 a0002c0026t0001g0230	1	148	0.0068	305	c.379 others(324): Show c.3798-5203_3798-5202insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAATAGGGG	TOPAZ1	ENSG00000173769.4	transcript	ENST00000309765.4	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
TOPAZ1_chr3_44236886_44337098	44298807	T T	TAGGGGCC others(298): Show TAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAA ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	256	0.0039	305	c.379 others(324): Show c.3798-5203_3798-5202insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAGGGG	TOPAZ1	ENSG00000173769.4	transcript	ENST00000309765.4	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
TP53AIP1_chr11_128930370_128947871	128930908	C C	CGGGGTTA others(298): Show CGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGG TTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGG GAGGCTGGGGTTAGGGAGGCTGGGGGTTAGGAAGGCCGGGGTTAGGGAGG CCGGGGTTAGGGAGACCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGG GGTTAGGAAGGCCGGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGG AGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0023 a0002c0002t0002g0023	1	293	0.0034	305	c.46 others(316): Show c.4682_*4683insTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGG CCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTC CCTGACCCCGGCCTTCCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAA CCCCTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTTCCTAACCCC CAGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCC TCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCT AACCCCAGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4461		chr11	TogoVar
TTC13_chr1_230901243_230983861	230949404	T T	TAAAAAAA others(298): Show TAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0288 a0001c0001t0002g0288	1	125	0.0080	305	c.514 others(322): Show c.514-3951_514-3950insTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTTTTTTTTTTTT	TTC13	ENSG00000143643.13	transcript	ENST00000366661.9	protein_coding	4/22			chr1	TogoVar
TTC13_chr1_230901243_230983861	230949404	T T	TAAAAAAA others(298): Show TAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCAAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0002 a0004c0012t0002	a0004c0012t0002g0295 a0004c0012t0002g0295	1	125	0.0080	305	c.514 others(322): Show c.514-3951_514-3950insTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTTGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTTTTTTTTTTT	TTC13	ENSG00000143643.13	transcript	ENST00000366661.9	protein_coding	4/22			chr1	TogoVar
TTC13_chr1_230901243_230983861	230949404	T T	TAAAAAAA others(298): Show TAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02145.hp1 HG02738.hp2 others(7): Show HG00597.hp2 HG02145.hp1 HG02738.hp2 HG03942.hp2 NA18942.hp1 NA18948.hp1 NA18949.hp1 NA18985.hp2 NA19089.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0125 others(7): Show a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0125 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0002g0213 a0001c0001t0002g0249	10	134	0.0746	305	c.514 others(322): Show c.514-3951_514-3950insTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTTTTTTTTTTT	TTC13	ENSG00000143643.13	transcript	ENST00000366661.9	protein_coding	4/22			chr1	TogoVar
TTLL8_chr22_50013575_50063298	50028631	T T	TACCCTCG others(298): Show TACCCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACACT CGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAG ACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCAT CACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCATCACACCA TCCTAAAGACCCCCACACACACTCGTAAAGACCCCCATCACACCGTCCTG AAGACCCCACACACCCTCGTAAAGACCCCCATCACACCATCCTGAAGACC CCACAC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	184	0.0054	305	c.225 others(324): Show c.2251+1798_2251+1799insGTGTGGGGTCTTCAGGATGGTGTGAT GGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGT CTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGTGTGATGGGGTCTTTAC GAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTG TGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGG TCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAG GACGGTGTGATGGGGGTCTTTACGAGGGT	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50028754	C C	CCCCACAC others(298): Show CCCCACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCAC ACACCCTCGTAAAGACCCCCATCACACCATCCTAAAGACCCCCACACACA CTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAA AGACCCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCC CATCACACCGTCCTAAAGACCCCCACACACCCTCGTAAAGACCCCATCAC ACCATCCTGAAGACCCCACACACACTCGTAAAGACCCCATCACACCATCC TGAAGA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0109 a0005c0005t0002g0109	1	206	0.0049	305	c.225 others(324): Show c.2251+1675_2251+1676insTCTTCAGGATGGTGTGATGGGGTCTT TACGAGTGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGG GTGTGTGGGGGTCTTTAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGT GGGGTCTTCAGGATGGTGTGATGGGGGTCTTTACGAGGGTGTGTGGGGTC TTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGG ATGGTGTGATGGGGGTCTTTACGAGGGTGTGTGGGGGTCTTCAGGACGGT GTGATGGGGTCTTTACGAGTGTGTGTGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TWIST2_chr2_238843085_238915534	238870184	A A	ACCACACC others(298): Show ACCACACCCCATACACACCACACCCCACACACACCACACCCCACACACAC CACACACCCCACACACACCACACACCCCACACACACCACACCCCACACAC ACCACACACCCCACACACACCACACACCCCACACACACCACACCCCACAC ACACCACACACCCCACACACACCACACAAACCACACACACCACACACCCC ACACACACCACACAAACCACACACACCACACACCCCACACACACCACACA CCCCACACACACCACACACCCCACACACACCACACAAACCACACACACCA CACACC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	324	0.0031	305	c.35 others(324): Show c.35+21452_*35+21453insCACACCCCATACACACCACACCCCAC ACACACCACACCCCACACACACCACACACCCCACACACACCACACACCCC ACACACACCACACCCCACACACACCACACACCCCACACACACCACACACC CCACACACACCACACCCCACACACACCACACACCCCACACACACCACACA AACCACACACACCACACACCCCACACACACCACACAAACCACACACACCA CACACCCCACACACACCACACACCCCACACACACCACACACCCCACACAC ACCACACAAACCACACACACCACACACCC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TYK2_chr19_10345533_10385572	10377665	T T	TGGATGGG others(298): Show TGGATGGGTGGGTGGATGGATGGGTGGATGGATGAATGGGTGGGTGGATG AATGGGTGGGTAGGTGGATGGATGGGTGGGTAGGTGTGTGGGTGGATGGA TGGATAGATGGGTGGGTGCGTGGATGAATGGATGGATGGATGAATGGATG GATGGGTGGGTGGATGGATGGATGGATGGATGGATGGGTGGGTGGGTGGA TGAATGGATGGATGGATGGATGGATGGATGGATGGATAGATGCATGGGTG GAGGGTGAGTGGGTGGGTGGATGGGTGGATGGATGGATGTGTGGGTGGAT GGATGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0010 a0008c0010t0010	a0008c0010t0010g0045 a0008c0010t0010g0045	1	354	0.0028	305	c.193 others(320): Show c.193+548_193+549insCCATCCATCCACCCACACATCCATCCATCC ACCCATCCACCCACCCACTCACCCTCCACCCATGCATCTATCCATCCATC CATCCATCCATCCATCCATCCATTCATCCACCCACCCACCCATCCATCCA TCCATCCATCCATCCACCCACCCATCCATCCATTCATCCATCCATCCATT CATCCACGCACCCACCCATCTATCCATCCATCCACCCACACACCTACCCA CCCATCCATCCACCTACCCACCCATTCATCCACCCACCCATTCATCCATC CACCCATCCATCCACCCACCCATCC	TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	3/24			chr19	TogoVar
UCKL1_chr20_63934829_63961416	63942110	A A	GCAGCGGC others(298): Show GCAGCGGCAGGGAAAGGGGCGGGGCCGGGAATGGGGTGTGGCAGGGCAGA AAAGAGGCGTGACAGCGGCAGGGGAAGGGGCGGGGCCGGGAATGGGGTGT GGCAGGGCAGAAAAGAGGCGTGACAGCGGCAGGGAAAGAGGCGGGGCCGG AAATGGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCGACAGGGAAAGA GGCGGGGCCGGAAATGGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCG GCAGGGAAAGAGGCGGGGCCGGAAATGGGGTGTGGCAGGGCAGAAAAGAG GCGTGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	354	0.0028	305	c.924 others(320): Show c.924-902_924-901insCACGCCTCTTTTCTGCCCTGCCACACCCCA TTTCCGGCCCCGCCTCTTTCCCTGCCGCTGTCACGCCTCTTTTCTGCCCT GCCACACCCCATTTCCGGCCCCGCCTCTTTCCCTGTCGCTGTCACGCCTC TTTTCTGCCCTGCCACACCCCATTTCCGGCCCCGCCTCTTTCCCTGCCGC TGTCACGCCTCTTTTCTGCCCTGCCACACCCCATTCCCGGCCCCGCCCCT TCCCCTGCCGCTGTCACGCCTCTTTTCTGCCCTGCCACACCCCATTCCCG GCCCCGCCCCTTTCCCTGCCGCTGC	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	8/14			chr20	TogoVar
UCKL1_chr20_63934829_63961416	63942138	G G	GAATGGGG others(298): Show GAATGGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCGGCAGGGAAAGG GGCGGGGCCGGGAATGGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCG GCAGGGGAAGGGGCGGGGCCGGGAATGGGGTGTGGCAGGGCAGAAAAGAG GCGTGACAGCGGCAGGGAAAGAGGCGGGGCCGGAAATGGGGTGTGGCAGG GCAGAAAAGAGGCGTGACAGCGACAGGGAAAGAGGCGGGGCCGGAAATGG GGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCGGCAGGGAAAGAGGCGGG GCCGGA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01074.hp2 HG00621.hp1 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0171 a0001c0001t0001g0039 a0001c0001t0001g0171	2	317	0.0063	305	c.924 others(320): Show c.924-931_924-930insTCCGGCCCCGCCTCTTTCCCTGCCGCTGTC ACGCCTCTTTTCTGCCCTGCCACACCCCATTTCCGGCCCCGCCTCTTTCC CTGTCGCTGTCACGCCTCTTTTCTGCCCTGCCACACCCCATTTCCGGCCC CGCCTCTTTCCCTGCCGCTGTCACGCCTCTTTTCTGCCCTGCCACACCCC ATTCCCGGCCCCGCCCCTTCCCCTGCCGCTGTCACGCCTCTTTTCTGCCC TGCCACACCCCATTCCCGGCCCCGCCCCTTTCCCTGCCGCTGTCACGCCT CTTTTCTGCCCTGCCACACCCCATT	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	8/14			chr20	TogoVar
UCKL1_chr20_63934829_63961416	63942138	G G	GAATGGGG others(298): Show GAATGGGGTGTGGCAGGGCAGAAGAGAGGCGTGACAGCGGCAGGGAAAGG GGCGGGGCCGGGAATGGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCG GCAGGGGAAGGGGCGGGGCCGGGAATGGGGTGTGGCAGGGCAGAAAAGAG GCGTGACAGCGGCAGGGAAAGAGGCGGGGCCGGAAATGGGGTGTGGCAGG GCAGAAAAGAGGCGTGACAGCGACAGGGAAAGAGGCGGGGCCGGAAATGG GGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCGGCAGGGAAAGAGGCGGG GCCGGA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	316	0.0032	305	c.924 others(320): Show c.924-931_924-930insTCCGGCCCCGCCTCTTTCCCTGCCGCTGTC ACGCCTCTTTTCTGCCCTGCCACACCCCATTTCCGGCCCCGCCTCTTTCC CTGTCGCTGTCACGCCTCTTTTCTGCCCTGCCACACCCCATTTCCGGCCC CGCCTCTTTCCCTGCCGCTGTCACGCCTCTTTTCTGCCCTGCCACACCCC ATTCCCGGCCCCGCCCCTTCCCCTGCCGCTGTCACGCCTCTTTTCTGCCC TGCCACACCCCATTCCCGGCCCCGCCCCTTTCCCTGCCGCTGTCACGCCT CTCTTCTGCCCTGCCACACCCCATT	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	8/14			chr20	TogoVar

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