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
CACNA1C_chr12_2047987_2702950	2107132	G G	GGAGGGTT others(279): Show GGAGGGTTTCCACCTCAGCTGGGGTGTCCTGAAGCCACTGGGTGCTCACC CTGGAGAGGGTTTCCACCTCAGCTGGGGTGTCCTGAAGCCGCTGGGCGTC CTTAAGCCACTGGGCGCCCACCCTGGAGAGAGTTTCCACCTCAGCTGGGC GTCCTGAAGCCACTGGGTGCTCACCCTGGAGAGGGTTTCCACCTCAGCTG GGGTGTGCTGAAACCACTGGGCGCCCACCCCGGGGAGGGTTTCCACCTCA GCTGGGCGTCCTGAAGCCACTGGGTGCTCACCCTGGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA19043.hp1 HG01891.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0038 a0001c0001 a0001c0038	a0001c0001t0002 a0001c0038t0041 a0001c0001t0002 a0001c0038t0041	a0001c0001t0002g0032 a0001c0038t0041g0047 a0001c0001t0002g0032 a0001c0038t0041g0047	2	103	0.0194	286	c.50- others(301): Show c.50-8065_50-7780dupCCTGAAGCCACTGGGTGCTCACCCTGGAGA GGGTTTCCACCTCAGCTGGGGTGTCCTGAAGCCGCTGGGCGTCCTTAAGC CACTGGGCGCCCACCCTGGAGAGAGTTTCCACCTCAGCTGGGCGTCCTGA AGCCACTGGGTGCTCACCCTGGAGAGGGTTTCCACCTCAGCTGGGGTGTG CTGAAACCACTGGGCGCCCACCCCGGGGAGGGTTTCCACCTCAGCTGGGC GTCCTGAAGCCACTGGGTGCTCACCCTGGAGAGGGTTTCCACCTCAGCTG GGGTGT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1E_chr1_181478517_181813084	181632138	T T	TGACACCT others(279): Show TGACACCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01243.hp1 HG02630.hp1 others(14): Show HG00735.hp1 HG01243.hp1 HG02630.hp1 HG02717.hp2 HG02738.hp2 HG02976.hp2 HG03209.hp1 HG03209.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp2 NA18906.hp2 NA20129.hp1 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0009 a0011	a0001c0001 a0001c0004 a0001c0005 others(6): Show a0001c0001 a0001c0004 a0001c0005 a0001c0024 a0002c0002 a0003c0003 a0005c0013 a0009c0019 a0011c0028	a0001c0001t0008 a0001c0001t0013 a0001c0001t0058 others(11): Show a0001c0001t0008 a0001c0001t0013 a0001c0001t0058 a0001c0001t0073 a0001c0004t0002 a0001c0005t0024 a0001c0024t0067 a0002c0002t0003 a0002c0002t0027 a0002c0002t0050 a0003c0003t0022 a0005c0013t0020 a0009c0019t0041 a0011c0028t0068	a0001c0001t0008g0179 a0001c0001t0013g0105 a0001c0001t0013g0187 others(14): Show a0001c0001t0008g0179 a0001c0001t0013g0105 a0001c0001t0013g0187 a0001c0001t0058g0204 a0001c0001t0073g0114 a0001c0004t0002g0071 a0001c0005t0024g0003 a0001c0024t0067g0004 a0002c0002t0003g0201 a0002c0002t0003g0202 a0002c0002t0003g0203 a0002c0002t0027g0036 a0002c0002t0050g0197 a0003c0003t0022g0177 a0005c0013t0020g0194 a0009c0019t0041g0116 a0011c0028t0068g0055	17	200	0.0850	286	c.952 others(305): Show c.952-19188_952-19187insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGGA CACCTCTTTT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	6/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CADM1_chr11_115164236_115509415	115328703	T T	TATATATA others(279): Show TATATATATATGTGTATATATATGTATATATATATGTGTATATATATGTA TATACATATATATGTGTATATATATGTATATACATATATATGTGTATATA TATGTATATACATATATATGTGTATATATATGTATATACATATATATATG TGTATATATATGTATATACATATATATATGTGTATATATATGTATATACA TATATATGTGTATATATATGTATATACATATATATATGTGTATATATATG TATATACATATATATATGTGTATATATATGTATATAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0101 a0001c0001t0007g0101	1	49	0.0204	286	c.125 others(305): Show c.125-88284_125-88283insGTATATACATATATATACACATATAT ATATGTATATACATATATATACACATATATATATGTATATACATATATAT ACACATATATATGTATATACATATATATACACATATATATATGTATATAC ATATATATACACATATATATATGTATATACATATATATACACATATATAT GTATATACATATATATACACATATATATGTATATACATATATATACACAT ATATATGTATATACATATATATACACATATATATATACATATATATACAC ATATATATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CAMSAP2_chr1_200733893_200865704	200816873	C C	CACACACG others(279): Show CACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACA CACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACA CACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACA CGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACG CGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCG CGTGTATGTGTGTACACACACGCGCGTGTATGTGTGT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	313	0.0032	286	c.645 others(303): Show c.645+1235_645+1236insGCGCGTGTATGTGTGTACACACACGCGC GTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGT GTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGT ATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTAT GTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGT GTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGT GTACACAC	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816899	C C	CACACACG others(279): Show CACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACA CACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACA CACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACA CGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACG CGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCG CGTGTATGTGTGTACACACACGCGCGTGTATGTGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02080.hp1 NA18975.hp1 HG00323.hp1 HG02080.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0071 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0071	3	328	0.0091	286	c.645 others(303): Show c.645+1261_645+1262insGCGCGTGTATGTGTGTACACACACGCGC GTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGT GTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGT ATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTAT GTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGT GTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGT GTACACAC	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816899	C C	CACACGCG others(279): Show CACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACA CACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACA CGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACG CGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCG CGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCG CGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	326	0.0031	286	c.645 others(303): Show c.645+1259_645+1260insGCGCGCGTGTATGTGTGTACACACGCGC GCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGC GTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGT GTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGT ATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTAT GTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGT GTGTACAC	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC187_chr9_136244973_136309094	136251917	T T	TCCACCCT others(279): Show TCCACCCTGGGAAGAGCCGGCCGCCCACCCAGTCCACCCCGGGAAGGTCC AGGCGACCGTCCCGCGGAGCCGGCCGCCCACCTGGTCCACCCTGGGAAGA GCCGGCCGCCCACCCAGTCCACCCTGGGAAGGTCCAGGCAACCATCCCGC ACAGCCGGCCGCCCACCCCGTCCACCAGGGGAAGGTCCAGGCGACCGTCC CGCAGAGCCGGCGCCCACCCTGTCCACCAGGGGAAGAGCCGGCCGCCCAC CCGGTCCACCCCGGGAAGAGCCGGCCGCCCACCCGGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0060 a0060	a0060c0050 a0060c0050	a0060c0050t0013 a0060c0050t0013	a0060c0050t0013g0384 a0060c0050t0013g0384	1	398	0.0025	286	c.13 others(297): Show c.1391_*1676dupGCCGGGTGGGCGGCCGGCTCTTCCCGGGGTGGAC CGGGTGGGCGGCCGGCTCTTCCCCTGGTGGACAGGGTGGGCGCCGGCTCT GCGGGACGGTCGCCTGGACCTTCCCCTGGTGGACGGGGTGGGCGGCCGGC TGTGCGGGATGGTTGCCTGGACCTTCCCAGGGTGGACTGGGTGGGCGGCC GGCTCTTCCCAGGGTGGACCAGGTGGGCGGCCGGCTCCGCGGGACGGTCG CCTGGACCTTCCCGGGGTGGACTGGGTGGGCGGCCGGCTCTTCCCAGGGT GG	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	1676		chr9	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(279): Show GGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGTCCCCT CGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCTCACCTT CCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCT CACCTTCCCATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCC ACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCA CCTGCCACAGCTCACCTTCCCATCCTCACCTGCCACA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0002 a0003c0015t0002	a0003c0015t0002g0216 a0003c0015t0002g0216	1	106	0.0094	286	c.411 others(303): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGAT GGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGT GAGGATGGGAAGGTGAGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCG TGGCAGGCGAGGGGACAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGA AGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCSER2_chr10_84323589_84523517	84501838	T T	TATATATA others(279): Show TATATATATATATATATATATATATATATATACACTCATATATATATATA TACTCATATATATATATATATACTCATATATATATATATATATACTCATA TATATATATATATACTCATATATATATATACTCATATATATATATATACT CATATATATATATACTCATATATATATATACTCATATATATATATATACT CATATATATATATATACTCATATATATATATACTCATATATATATATATA TATATATACTCATATATATATATATATATATATACTC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0108 a0002c0002t0003g0108	1	290	0.0034	286	c.232 others(307): Show c.2326-11590_2326-11589insTATATATATACACTCATATATATA TATATACTCATATATATATATATATACTCATATATATATATATATATACT CATATATATATATATATACTCATATATATATATACTCATATATATATATA TACTCATATATATATATACTCATATATATATATACTCATATATATATATA TACTCATATATATATATATACTCATATATATATATACTCATATATATATA TATATATATATACTCATATATATATATATATATATATACTCATATATATA TATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CD300A_chr17_74461634_74489794	74482697	C C	CCTTCCTT others(279): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0257 a0002c0003t0001g0257	1	189	0.0053	286	c.774 others(301): Show c.774+867_774+868insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(279): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATACGCATA CACACATATATGTGTGTGTATACGCATACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	301	0.0033	286	c.27 others(297): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATACGCATACACACACATATATGT GTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACAT AT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD69_chr12_9747486_9765901	9750455	A A	ATTTGCTG others(279): Show ATTTGCTGAGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0004 a0003c0007t0004	a0003c0007t0004g0054 a0003c0007t0004g0054	1	445	0.0022	286	c.30 others(297): Show c.3025_*3026insCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGAGAATGGCTTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGC TAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCAGCA AA	CD69	ENSG00000110848.8	transcript	ENST00000228434.7	protein_coding		2030		chr12	TogoVar
CDH15_chr16_89166748_89200492	89192847	G G	GCCCCCTC others(279): Show GCCCCCTCATTACCAGCCACGCCGCTTCCTCCCCAGCTCCGCCTCCTCCC TAACCCCGCCCCGTCATTACCAGCCACGCCGCTTACTCCCCAGCTCCGCC TCCTCCCTAACCCCGCCCCCTCATTACCAGCCACGCCGCTTCCTCCCCAG CTCCTCCTCCTCCCTAACCCCGCCCCGTCATTACCAGCCACGCCGCTTCC TCCCCAGCTCCGCCTCCTCCCTAACCCCGCCCCGTCATTACCAGCCACGC CGCTTCCTCCCCAGCTCCGCCTCCTCCCTAACCCCGC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0005 a0004c0019t0005	a0004c0019t0005g0289 a0004c0019t0005g0289	1	300	0.0033	286	c.185 others(303): Show c.1855+407_1855+408insCTCATTACCAGCCACGCCGCTTCCTCCC CAGCTCCGCCTCCTCCCTAACCCCGCCCCGTCATTACCAGCCACGCCGCT TACTCCCCAGCTCCGCCTCCTCCCTAACCCCGCCCCCTCATTACCAGCCA CGCCGCTTCCTCCCCAGCTCCTCCTCCTCCCTAACCCCGCCCCGTCATTA CCAGCCACGCCGCTTCCTCCCCAGCTCCGCCTCCTCCCTAACCCCGCCCC GTCATTACCAGCCACGCCGCTTCCTCCCCAGCTCCGCCTCCTCCCTAACC CCGCCCCC	CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH4_chr20_61247261_61945617	61383620	A A	ATGATACA others(279): Show ATGATACATATCTATATATGATATATATGAATATATGAATATATGATACG TATGAATATATATGATATATATGGATATATGATACGTATGAATATATATC ATATATGTATATATGATATGATATATATATGAATATATGATATATATGAA CATATATATGGATATTATGAATATATATGATATATATGAATATATATGGA TATATATGAATATATATGATATATGAATATATATGGATATATATGAATAT ATATGATTGATATATATCATATATGTATGCATATATG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp1 HG01081.hp2 others(9): Show HG00738.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG03225.hp2 HG03704.hp1 HG03927.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0011 others(4): Show a0001c0001 a0001c0003 a0001c0011 a0001c0022 a0002c0002 a0002c0005 a0002c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0046 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0046 a0001c0003t0029 a0001c0011t0005 a0001c0022t0010 a0002c0002t0013 a0002c0002t0022 a0002c0005t0002 a0002c0005t0010 a0002c0026t0010	a0001c0001t0001g0012 a0001c0001t0002g0080 a0001c0001t0046g0062 others(9): Show a0001c0001t0001g0012 a0001c0001t0002g0080 a0001c0001t0046g0062 a0001c0003t0029g0040 a0001c0011t0005g0003 a0001c0011t0005g0101 a0001c0022t0010g0071 a0002c0002t0013g0061 a0002c0002t0022g0105 a0002c0005t0002g0060 a0002c0005t0010g0068 a0002c0026t0010g0078	12	98	0.1224	286	c.169 others(307): Show c.169+128688_169+128689insCATATCTATATATGATATATATGA ATATATGAATATATGATACGTATGAATATATATGATATATATGGATATAT GATACGTATGAATATATATCATATATGTATATATGATATGATATATATAT GAATATATGATATATATGAACATATATATGGATATTATGAATATATATGA TATATATGAATATATATGGATATATATGAATATATATGATATATGAATAT ATATGGATATATATGAATATATATGATTGATATATATCATATATGTATGC ATATATGTGATA	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTATATAG others(279): Show CTATATAGATATATAGATACATCTAGATATATAGATACATCTAGATAGAT ATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	200	0.0050	286	c.12 others(297): Show c.1214_*1215insTCTAGATGTATCTATATATCTATCTAGATGTATC TATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATA TCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATG TATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTA TATATCTATCTAGATGTATCTATATATCTAGATGTATCTATATATCTATA TA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		316		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTATATAG others(279): Show CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTAGAT ATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	200	0.0050	286	c.12 others(297): Show c.1214_*1215insTCTAGATGTATCTATATATCTATCTAGATGTATC TATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATA TCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATG TATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTA TATATCTAGATGTATCTATATATCTATATAGATGTATCTATATATCTATA TA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		316		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881982	A A	ATATATAG others(279): Show ATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0225 a0001c0002t0007g0225	1	423	0.0024	286	c.11 others(297): Show c.1194_*1195insGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTA TCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATC TATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTA TATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTATA TA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		296		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882005	G G	GATACATC others(279): Show GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCATCTATATATAG ATACATCTATATATAGATACATCATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA19001.hp1 NA18612.hp1 NA19001.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0161 a0001c0002t0001g0169 a0001c0002t0001g0161 a0001c0002t0001g0169	2	362	0.0055	286	c.11 others(297): Show c.1171_*1172insAGATGTATCTATATATAGATGTATCTATATATAG ATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGT ATCTATATATAGATGTATCTATATATAGATGATGTATCTATATATAGATG TATCTATATATAGATGATGTATCTATATATAGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGT AT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		273		chr13	TogoVar
CFAP46_chr10_132803392_132947570	132935669	A A	AGATCTCC others(279): Show AGATCTCCTCACTCCCCTCACATCCAAACACACTGTGATCTCCTCACTCC CCTCGGCACCCAAACACACTGTGATCTCCTCACAGCCCTCAGCACCCAAA CACACTGTGATCTCCTCACTCCCCTCACATCCAAACACACTGTGATCTCC TCACTCCCCTCGGCACCCAAACACACTGTGATCTCCTCACAGCCCTCAGC ACCCAAACCCACCGTGATCTCCTCACTCCCCTCATCATCCAAACACACTG TGATCTCCTCACTCCCCTCGGCACCCAAACACACTGC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0050 a0050	a0050c0071 a0050c0071	a0050c0071t0002 a0050c0071t0002	a0050c0071t0002g0003 a0050c0071t0002g0003	1	242	0.0041	286	c.755 others(302): Show c.755+1006_756-808dupGCAGTGTGTTTGGGTGCCGAGGGGAGTGA GGAGATCACAGTGTGTTTGGATGATGAGGGGAGTGAGGAGATCACGGTGG GTTTGGGTGCTGAGGGCTGTGAGGAGATCACAGTGTGTTTGGGTGCCGAG GGGAGTGAGGAGATCACAGTGTGTTTGGATGTGAGGGGAGTGAGGAGATC ACAGTGTGTTTGGGTGCTGAGGGCTGTGAGGAGATCACAGTGTGTTTGGG TGCCGAGGGGAGTGAGGAGATCACAGTGTGTTTGGATGTGAGGGGAGTGA GGAGATC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	7/57			chr10	TogoVar
CLCN5_chrX_49917596_50104230	50057375	G G	GTCCTGGA others(279): Show GTCCTGGATAGATACTATCCAGGACTGTCCTGGATAGATACTATCCAGGA CTCTCCTGGATAGATACTATCCAGGACTGTCCTGGATAGATACTATCCAG GACTGTCCTGGATAGATACTATCCAGGACTGTCCTGGATAGATACTATCC AGGACTGTCCTGGATAGATACTATCCAGGACTGTCCTGGATAGATACTAT CCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACT ATCCAGGACTCTCCTGGATAGATACTATCCAGGACTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0169 a0001c0003t0003g0169	1	16	0.0625	286	c.164 others(305): Show c.164-12479_164-12478insGTCCTGGATAGATACTATCCAGGACT CTCCTGGATAGATACTATCCAGGACTGTCCTGGATAGATACTATCCAGGA CTGTCCTGGATAGATACTATCCAGGACTGTCCTGGATAGATACTATCCAG GACTGTCCTGGATAGATACTATCCAGGACTGTCCTGGATAGATACTATCC AGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTAT CCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACT ATCCAGGACT	CLCN5	ENSG00000171365.17	transcript	ENST00000376091.8	protein_coding	4/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNBD1_chr8_86861415_87387859	87136898	A A	ATATATAA others(279): Show ATATATAAATTATATATTTATATTATATATAAATTATATATTTATATTAT ATATAAATATATATATTTATATAAAATATAAATATATATATTATATATAA TATAAATATATATATTTATATATGTATATTTATATATAATATAAATTATA TAATTTATATTATATATAAATTATATAATTTATATTATATATAAATATAT ATATTTATATTCTATATAAATTATATAATTTATATTCTATATAAATTATA TAATTTATATTCTATATAAATATATATATTTATATTC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01192.hp1 HG01981.hp2 others(6): Show HG01099.hp1 HG01192.hp1 HG01981.hp2 HG02717.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG03209.hp2 NA18941.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0001c0001t0001 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0074 others(6): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0074 a0001c0001t0001g0099 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0128 a0002c0002t0001g0080 a0004c0004t0001g0145	9	60	0.1500	286	c.432 others(305): Show c.432-69078_432-69077insTATATTATATATAAATTATATATTTA TATTATATATAAATATATATATTTATATAAAATATAAATATATATATTAT ATATAATATAAATATATATATTTATATATGTATATTTATATATAATATAA ATTATATAATTTATATTATATATAAATTATATAATTTATATTATATATAA ATATATATATTTATATTCTATATAAATTATATAATTTATATTCTATATAA ATTATATAATTTATATTCTATATAAATATATATATTTATATTCTATATAA ATTATATATT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL18A1_chr21_45400165_45518720	45500881	T T	TGTTGGGT others(279): Show TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG TGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTG TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp1 HG01123.hp1 others(6): Show HG00280.hp1 HG00733.hp1 HG01123.hp1 HG01257.hp1 HG01361.hp1 HG01928.hp1 HG01943.hp2 HG01981.hp1 NA20300.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0006 a0001c0017 others(1): Show a0001c0001 a0001c0006 a0001c0017 a0006c0016	a0001c0001t0001 a0001c0006t0003 a0001c0017t0002 others(2): Show a0001c0001t0001 a0001c0006t0003 a0001c0017t0002 a0001c0017t0003 a0006c0016t0001	a0001c0001t0001g0267 a0001c0006t0003g0153 a0001c0006t0003g0160 others(6): Show a0001c0001t0001g0267 a0001c0006t0003g0153 a0001c0006t0003g0160 a0001c0006t0003g0204 a0001c0006t0003g0283 a0001c0006t0003g0285 a0001c0017t0002g0158 a0001c0017t0003g0207 a0006c0016t0001g0211	9	280	0.0321	286	c.268 others(305): Show c.2684-3128_2684-3127insTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG GGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45500995	G G	GGTGTGTG others(279): Show GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTG GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG GTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0069 a0001c0003t0001g0069	1	237	0.0042	286	c.268 others(305): Show c.2684-3000_2684-2999insTAGTGTGGGGGTGTGGTTTTGTGTGT GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG GGGTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT GTTGGGTGTG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL21A1_chr6_56051590_56252580	56098326	T T	TATATATA others(279): Show TATATATATAAATATATATAAGTATATAAATATATATAAATATATATAAG TATATAAATATATATATAAATATATAAGTATATATAAATATATATAAATA TATATAAGTATATATAAATATATATAAATATATATAAGTATATATAAATA TATAAAAATATATATAAGTATATATAAATATATATAAATATATATAAATA TATGCAAATATATATAAATATATATAAATAGATATATAAATAGATATAAA TAGATATAAATAGATATATAAATACATATATAAATAG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	262	0.0038	286	c.181 others(305): Show c.1812+3145_1812+3146insCTATTTATATATGTATTTATATATCT ATTTATATCTATTTATATCTATTTATATATCTATTTATATATATTTATAT ATATTTGCATATATTTATATATATTTATATATATTTATATATACTTATAT ATATTTTTATATATTTATATATACTTATATATATTTATATATATTTATAT ATACTTATATATATTTATATATATTTATATATACTTATATATTTATATAT ATATTTATATACTTATATATATTTATATATATTTATATACTTATATATAT TTATATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL23A1_chr5_178232618_178595393	178294342	C C	CCCCAAAT others(279): Show CCCCAAATCACTACCGAGCTCCCTCCCCAAATCACTACCGAGCTCCCTCC CAAATCACTACCCAGCTCCCTCCCCAAATCACTACCGAGCTCCCTCCCCA AATCACTACCGAGCTCCCTCCCCAAATCACTACCGAGCTCCCTCCCCAAA TCACTACCGAGCTCCCTCCCCAAATCACTACCGAGCTCCCTCCCCAAATC ACTACCGAGCTCCCTCCCCAAATCACTACCCAGCTCCCTCCCCAAATCAC TACCGAGCTCCCTCCCCAAATCACTACCGAGCTCCCT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19000.hp2 NA18951.hp1 NA19000.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0205 a0002c0003t0004g0221 a0002c0003t0004g0205 a0002c0003t0004g0221	2	218	0.0092	286	c.407 others(303): Show c.407-3974_407-3973insAGGGAGCTCGGTAGTGATTTGGGGAGGG AGCTCGGTAGTGATTTGGGGAGGGAGCTGGGTAGTGATTTGGGGAGGGAG CTCGGTAGTGATTTGGGGAGGGAGCTCGGTAGTGATTTGGGGAGGGAGCT CGGTAGTGATTTGGGGAGGGAGCTCGGTAGTGATTTGGGGAGGGAGCTCG GTAGTGATTTGGGGAGGGAGCTCGGTAGTGATTTGGGGAGGGAGCTGGGT AGTGATTTGGGAGGGAGCTCGGTAGTGATTTGGGGAGGGAGCTCGGTAGT GATTTGGG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	3/28			chr5	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GGGGCAGG others(279): Show GGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGAAG GCAAGAAGGGAGGGGGCAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGA AGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG AAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01515.hp2 others(5): Show HG00639.hp1 HG00741.hp1 HG01515.hp2 HG01516.hp1 HG01981.hp1 HG02109.hp2 HG02602.hp2 HG02698.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0003 a0001c0006 a0001c0019 others(3): Show a0001c0003 a0001c0006 a0001c0019 a0003c0008 a0003c0009 a0004c0025	a0001c0003t0001 a0001c0006t0001 a0001c0019t0001 others(4): Show a0001c0003t0001 a0001c0006t0001 a0001c0019t0001 a0003c0008t0001 a0003c0008t0002 a0003c0009t0002 a0004c0025t0001	a0001c0003t0001g0160 a0001c0006t0001g0145 a0001c0019t0001g0007 others(5): Show a0001c0003t0001g0160 a0001c0006t0001g0145 a0001c0019t0001g0007 a0003c0008t0001g0167 a0003c0008t0002g0313 a0003c0008t0002g0331 a0003c0009t0002g0322 a0004c0025t0001g0130	8	178	0.0449	286	c.85- others(303): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCC CCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTGCCCCCTC CCTTCTTGCCTTCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCT GCCTGCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255826	A A	AGGGGGAA others(279): Show AGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCA GGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0208 a0003c0008t0001g0208	1	294	0.0034	286	c.85- others(303): Show c.85-13093_85-13092insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTC CCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCC TTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGC CTTCCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CORO2B_chr15_68573993_68732806	68700380	C C	CAAAACAT others(279): Show CAAAACATTCAGAGGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCCAGCTAAAATGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAACA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02965.hp2 HG01109.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0094 a0001c0001t0006g0237 a0001c0001t0001g0094 a0001c0001t0006g0237	2	239	0.0084	286	c.333 others(303): Show c.333+5138_333+5139insCACTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCAGCTAAAATGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAACAAAAACA TTCAGAGG	CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
CPNE7_chr16_89570758_89602246	89587126	G G	GCCGCCCC others(279): Show GCCGCCCCATGCCGCCCCCTCAGTCCGTGGCCCCGCCCCTCCCCGCCCCC TCAGTCTGTGGCCCCGCCCATCCCCGCCCCCTCAGTCCGTGGCCCCGCCC CTCCCGCCCCCTCAGTCTGTGGCCCCGCCCCTCCCCGCCCCCTCAGTCTG TGGCCCCGCCCCTCCCTGCCCCCTCAGTCTGTGGCCCCGCCCATCCCCGC CCCCTCAGTCCGTGGCCCCGCCCCTCCCGCCCCCTCAGTCCGTGGCCCCG CCCCTCCCGCCCCCTCAGTCTGTGGCCCCGCCCCTCC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0022 a0001c0002t0003g0022	1	339	0.0029	286	c.927 others(299): Show c.927+31_927+32insATGCCGCCCCCTCAGTCCGTGGCCCCGCCCCT CCCCGCCCCCTCAGTCTGTGGCCCCGCCCATCCCCGCCCCCTCAGTCCGT GGCCCCGCCCCTCCCGCCCCCTCAGTCTGTGGCCCCGCCCCTCCCCGCCC CCTCAGTCTGTGGCCCCGCCCCTCCCTGCCCCCTCAGTCTGTGGCCCCGC CCATCCCCGCCCCCTCAGTCCGTGGCCCCGCCCCTCCCGCCCCCTCAGTC CGTGGCCCCGCCCCTCCCGCCCCCTCAGTCTGTGGCCCCGCCCCTCCCCG CCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPSF2_chr14_92116969_92177145	92120589	G G	GTCCGCCC others(279): Show GTCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAT CACGCCCGGCTTTTTTTTTTTTTTTTCTCTCTGTGGCCCAGGCTGGAGTG CAGTGGCGCAATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC CACGCCCAGCTAATTTTTTTTGTATTTTTAGTAGACACAGGGTTTCACCA TGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0145 a0001c0001t0026g0145	1	146	0.0068	286	c.-16 others(297): Show c.-1633_-1632insTCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCATCACGCCCGGCTTTTTTTTTTTTTTTTCTCTCTGTG GCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTTTGTATTTTTAGTAGA CACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGT GA	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1379		chr14	TogoVar
CRPPA_chr7_16082525_16426538	16265694	T T	TAAAACAT others(279): Show TAAAACATATCTCCCTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCTGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0047 a0002c0002t0047	a0002c0002t0047g0215 a0002c0002t0047g0215	1	288	0.0035	286	c.934 others(303): Show c.934-6683_934-6682insTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGGGAGA TATGTTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	6/9			chr7	TogoVar
CSNKA2IP_chr3_88333456_88472594	88428992	T T	TAAAATTT others(279): Show TAAAATTTTAGCAAATTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGC AGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0270 a0007c0009t0002g0270	1	273	0.0037	286	c.-27 others(307): Show c.-270-36081_-270-36080insTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG TGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ATTTTAGCAAAT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSTPP1_chr11_46931761_47167247	47036037	A A	AAAAGTGG others(279): Show AAAAGTGGGATAGATATAAAGGTCACTTATCTAAGAATTTTTTTTGTCCA TGTTTTACTTTTGGAACTATGTTAATATTTCATTTACATGAGTAAGTATA TATATATTATATATGTTATTTTATATATATATTATATATATGATATATGA TATATTATAATATATTATATATGATATTATATTATATTATATATTATATC ATATATTATATATTATATTATATATAATATTATATATTATATTATATATA ATATTATATATTATATTATATATAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	94	0.0106	286	c.150 others(305): Show c.150-16351_150-16350insAAAGTGGGATAGATATAAAGGTCACT TATCTAAGAATTTTTTTTGTCCATGTTTTACTTTTGGAACTATGTTAATA TTTCATTTACATGAGTAAGTATATATATATTATATATGTTATTTTATATA TATATTATATATATGATATATGATATATTATAATATATTATATATGATAT TATATTATATTATATATTATATCATATATTATATATTATATTATATATAA TATTATATATTATATTATATATAATATTATATATTATATTATATATAATA TATATTATAT	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	2/8			chr11	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(279): Show ATATATATGTGTATATATATATATATATATATATATATGTGTATATATAT ATATATATATATATATATATGTGTGTATATATATATATATATATATATGT GTGTATATATATATATATATATGTGTATATATATATATATATATATATGT GTATATATATATATATATATATGTGTATATATATATATATATATATATAT GTGTATATATATATATATATATATATATATGTGTATATATATATATATAT ATATATGTGTGTATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0159 a0002c0002t0159	a0002c0002t0159g0209 a0002c0002t0159g0209	1	218	0.0046	286	c.290 others(301): Show c.290-150_290-149insTATATGTGTATATATATATATATATATATA TATATGTGTATATATATATATATATATATATATATATGTGTGTATATATA TATATATATATATATGTGTGTATATATATATATATATATGTGTATATATA TATATATATATATATGTGTATATATATATATATATATATGTGTATATATA TATATATATATATATATGTGTATATATATATATATATATATATATATGTG TATATATATATATATATATATATGTGTGTATATATATATATATATATATA TATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(279): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAT GGAGGAATGGAGGGATGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGT GGAAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGT GGAAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGA GGGGAAGGGGAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGG AGGGGAAGGGGGAGACAGGGGGGAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0079 a0002c0002t0004g0079	1	97	0.0103	286	c.923 others(305): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCCTGTCTC CCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCC TCCCCTTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCATCCC TCCATTCCTCCATTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTT CCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DECR2_chr16_396885_417482	397709	T T	TGGGGGGG others(279): Show TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGG GGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	307	0.0033	286	c.-42 others(297): Show c.-4255_-4254insGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4175		chr16	TogoVar
DEPDC1B_chr5_60591912_60705166	60668159	T T	TTTTATAT others(279): Show TTTTATATATATATATAAAATGGATATTTTATATATATATATAAAATGGA TATTTTATATATATATATAAAATGGATATTTTATATATATATATAAAATG GATATTTTATATATATATATAAAATGGATATTTTATATATATATATAAAA TGGATATTTTATATATATATATAAAATGGATATTTTATATATATATATAA AATGGATATTTTATATATATATATAAAATGGATATTTTATATATATATAA AATGGATATTTTATATATATATAAAATGGATATTTTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	158	0.0063	286	c.314 others(305): Show c.314+18802_314+18803insTAAAATATCCATTTTATATATATATA AAATATCCATTTTATATATATATAAAATATCCATTTTATATATATATATA AAATATCCATTTTATATATATATATAAAATATCCATTTTATATATATATA TAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATATATA TATAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATATA TATATAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATA TATATATAAA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DIDO1_chr20_62872743_62931505	62875242	C C	CCACCCCA others(279): Show CCACCCCACCCCCACCCCCACCCTCACCCCCACCCCCACCCCCACCCCCA CCCCCACCCGCACCGGCACCCCCACCCGCACCGGCACCCCCACCCCCACC CCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCC CACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCCA CCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCACCC CCACCCCCACCCCCACCCCCACCCCCACCCGCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG04115.hp2 HG04204.hp2 HG03239.hp2 HG04115.hp2 HG04204.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0048 a0001c0001t0001g0050 a0003c0003t0001g0264 a0001c0001t0001g0048 a0001c0001t0001g0050 a0003c0003t0001g0264	3	266	0.0113	286	c.39 others(297): Show c.3990_*3991insAGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGG TGGGGGTGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGG GGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGG GTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGT GGGGGTGGGGGTGGGGGTGCCGGTGCGGGTGGGGGTGCCGGTGCGGGTGG GGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGG TG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2500		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875248	C C	CACCCCCA others(279): Show CACCCCCACCCCCACCCTCACCCCCACCCCCACCCCCACCCCCACCCCCA CCCGCACCGGCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCACC CCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCGCACCCC CACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCA CCCCCACCCGCACCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCC TCACCCCCACCCCCACCCTCACCCCCACCCCCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0125 a0002c0002t0001g0125	1	253	0.0040	286	c.39 others(297): Show c.3984_*3985insCGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGGG TGAGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGTGCGGGTGG GGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGG GTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGT GGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCCGGTGC GGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGG GT	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2494		chr20	TogoVar
DISP3_chr1_11474155_11542551	11522761	A A	ACCCAGCC others(279): Show ACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAG CCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGG CCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGC CAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGAC CCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCC AGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0200 a0002c0002t0002g0200	1	260	0.0038	286	c.236 others(305): Show c.2363-1171_2363-1170insGCCCAGCCAGGGCCCAGCCAGGACCC AGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAG GACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGG GCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAG CCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAG CCCAGCCAGG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DMD_chrX_31114222_33216549	33010122	G G	GTGTGCAC others(279): Show GTGTGCACATGTGTATGTACACATGTGTGTGCACATGTGTATGTACACAT GTGTGTGCACATGTGTATGTACACATGTGTGTGCACATGTGTATGTACAC ATGTGTGTGCACATGTGTATGTACACATGTGTGTGCACATGTGTATGTAC ACATGTGTGTGCACATGTGTATGTACACATGTGTGTGCACATGTGTATGT ACACATGTGTGTGCACATGTGTATGTACACATGTGTGTGCACATGTGTAT GTACACATGTGTGTGCACATGTGTATATATACATGTA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0013 a0006c0006t0001g0013	1	126	0.0079	286	c.93+ others(303): Show c.93+10016_93+10017insTACATGTATATATACACATGTGCACACA CATGTGTACATACACATGTGCACACACATGTGTACATACACATGTGCACA CACATGTGTACATACACATGTGCACACACATGTGTACATACACATGTGCA CACACATGTGTACATACACATGTGCACACACATGTGTACATACACATGTG CACACACATGTGTACATACACATGTGCACACACATGTGTACATACACATG TGCACACACATGTGTACATACACATGTGCACACACATGTGTACATACACA TGTGCACA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DOCK1_chr10_126900428_127457516	127362877	A A	ACACATAC others(279): Show ACACATACACATCCCCCCACACACACATACACATGTACATCTCCACACAC ACACATACACATCCCCACACACACATACACATGCACGTCCCCCCACACAC ATACACATGCACATCCCCACACACACACACACACACACATGCGCATCCCC ACACACACACACACACATACACATCCCCCCACACACACACGCACATCCCC ACACACACGTACACATGCACATCCCCACACACACACACATGCACCTCCCC CCACACACACACACGTACATCCCCACACACACACATG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0105 a0001c0007t0001g0105	1	53	0.0189	286	c.343 others(303): Show c.3432+670_3432+671insACACATCCCCCCACACACACATACACAT GTACATCTCCACACACACACATACACATCCCCACACACACATACACATGC ACGTCCCCCCACACACATACACATGCACATCCCCACACACACACACACAC ACACATGCGCATCCCCACACACACACACACACATACACATCCCCCCACAC ACACACGCACATCCCCACACACACGTACACATGCACATCCCCACACACAC ACACATGCACCTCCCCCCACACACACACACGTACATCCCCACACACACAC ATGCACAT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	33/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK8_chr9_209865_470255	401081	A A	ACCACCTC others(279): Show ACCACCTCCACCATCACCATCACCACCACCTCCACCATCACCACCTCCTC CACCATCACCACCACCTCCACCACCACCACCTCCCCCACTACCAACAGCT CCTTCACCATCACCACAACATCCACCACCACCATCACCACCACCTCCACC ATCACCACCACCTCCACCACCTCCTCCACCATCACCACCTCCTTCACCAT CACCACCATTAGCTCCACCATGACCACCTCCTTCACCTCCACCATCACTT CTTCCACCATCATCATTGTCACCATCATCACCACTAC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0006 a0006	a0006c0026 a0006c0026	a0006c0026t0002 a0006c0026t0002	a0006c0026t0002g0193 a0006c0026t0002g0193	1	7	0.1429	286	c.323 others(305): Show c.3234+1834_3234+1835insTCACCATCACCACCACCTCCACCATC ACCACCTCCTCCACCATCACCACCACCTCCACCACCACCACCTCCCCCAC TACCAACAGCTCCTTCACCATCACCACAACATCCACCACCACCATCACCA CCACCTCCACCATCACCACCACCTCCACCACCTCCTCCACCATCACCACC TCCTTCACCATCACCACCATTAGCTCCACCATGACCACCTCCTTCACCTC CACCATCACTTCTTCCACCATCATCATTGTCACCATCATCACCACTACCC ACCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EFCAB13_chr17_47318955_47446312	47325026	C C	CCCCCCCC others(279): Show CCCCCCCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTA CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTT AGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0343 a0001c0001t0001g0343	1	149	0.0067	286	c.-24 others(303): Show c.-248+507_-248+508insCCCCTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCC	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EHMT1_chr9_137614005_137841127	137716102	G G	GTTGGTGT others(279): Show GTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAG GAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGG TGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGT CATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTT GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGG AGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0083 a0001c0004t0001g0083	1	160	0.0063	286	c.86- others(299): Show c.86-524_86-523insTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCA TGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGT TGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGA AGTT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26			chr9	TogoVar
EHMT1_chr9_137614005_137841127	137716305	G G	GGTGGTGT others(279): Show GGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGG GGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCAT GGTGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGT TGGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGG AGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0054 a0001c0007t0001g0054	1	163	0.0061	286	c.86- others(299): Show c.86-179_86-178insGTGTCATGGTGGGGGGAGGAAGTTGTGGTGGT GTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAG TTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTG GGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCA TGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGG TGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGT TGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
F10_chr13_113117799_113154529	113151682	A A	AAAGTGAT others(279): Show AAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTG AGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAGAAGT GATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTTGAGACCCTGAGGA CCGAGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATGGGAAAAGTGATT CCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAG AGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	79	0.0127	286	c.21 others(297): Show c.2165_*2166insAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAAC AGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGC GAAGGTGGGAGAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGG TTGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGTAAAG ATGGGAAAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAG ACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGG AG	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		2154		chr13	TogoVar
F10_chr13_113117799_113154529	113154196	G G	GAGGCGGG others(279): Show GAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGG GCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCG GGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGAGG GGCGTGGGGGGGCGGGCCGTGGGGGAGGAGGGGCGTGGGGGGCGGGGCGT CGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGG GGGAGGCGGGGCGCGGGGGGAGGCGGGGCGCGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0355 a0001c0001t0001g0355	1	334	0.0030	286	c.46 others(297): Show c.4679_*4680insAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGC GGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGG GGCGCGGGGGAGGCGGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGG GCGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCGTGGGGGAGGAGGGGCG TGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGG GGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGGAGGCGGGGCGCGGGG GA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4668		chr13	TogoVar
F13B_chr1_197033741_197072260	197042728	G G	GAAGAATC others(279): Show GAAGAATCTCTTGACCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(64): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00738.hp2 HG01074.hp2 HG01168.hp1 HG01192.hp2 HG01255.hp2 HG01261.hp1 HG01433.hp2 HG01515.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02148.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02735.hp1 HG02818.hp1 HG02896.hp1 HG02970.hp1 HG03098.hp1 HG03130.hp2 HG03209.hp2 HG03486.hp1 HG03704.hp1 HG03831.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp2 NA18943.hp1 NA18944.hp2 NA18949.hp1 NA18953.hp1 NA18960.hp2 NA18965.hp1 NA18973.hp2 NA18975.hp1 NA18983.hp1 NA18983.hp2 NA18998.hp2 NA19001.hp2 NA19005.hp2 NA19012.hp2 NA19060.hp1 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp2 NA19076.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19088.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0012 a0001c0013 others(1): Show a0001c0001 a0001c0012 a0001c0013 a0005c0017	a0001c0001t0001 a0001c0012t0001 a0001c0013t0001 others(1): Show a0001c0001t0001 a0001c0012t0001 a0001c0013t0001 a0005c0017t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 others(31): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0111 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0012t0001g0151 a0001c0013t0001g0154 a0005c0017t0001g0155	67	208	0.3221	286	c.173 others(305): Show c.1739-1994_1739-1993insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGTCA AGAGATTCTT	F13B	ENSG00000143278.5	transcript	ENST00000367412.2	protein_coding	10/11			chr1	TogoVar
FER1L5_chr2_96637764_96709883	96659350	C C	CTTTCTTT others(279): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0148 a0008c0010t0001g0148	1	180	0.0056	286	c.748 others(301): Show c.748-989_748-988insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar

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