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
GALNS_chr16_88808734_88861947	88831666	T T	TGCGTGGG others(281): Show TGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAG AGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGA GCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTG GGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGT GAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGG GGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0359 a0001c0001t0001g0359	1	354	0.0028	288	c.100 others(305): Show c.1002+331_1002+332insTCCCCGTGCTCGGCCTCACCGCTCTCCT CCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCG TGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACC GCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCAC GCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCG GCCTCACCGCTCTCCTCCCCACGCTCCCCGTGCTCGGCCTCACCGCTCTC CTCCCCACGC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831751	G G	GAGCGGTG others(281): Show GAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGGGGAGAGCGGTGAGGCCG AGCACGGGGTGCGTGGGGGGGAGAGCGGTGAGGCCGAGCACGGGGTGCGT GGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGG TGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACG GGGTGCGTGGGGAGGAGAGCGGTGAGGCGGAGCACGGGGTGCGTGGGGAG GAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0076 a0001c0002t0002g0076	1	242	0.0041	288	c.100 others(305): Show c.1002+246_1002+247insGTCCTCCCCACGCACCCCGTGCTCGGCC TCACCGCTCTCCTCCCCACGCACCCCGTGCTCCGCCTCACCGCTCTCCTC CCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGT GCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCG CTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCCCCCCACG CACCCCGTGCTCGGCCTCACCGCTCTCCCCCCCACGCACCCCGTGCTCGG CCTCACCGCT	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GEMIN8_chrX_14001726_14034892	14004139	T T	TGCATGGT others(281): Show TGCATGGTGTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTGGGACTGCGGACTGCA GTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCG CGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	271	0.0037	288	c.47 others(299): Show c.4773_*4774insTGGATCATGAGGTCAGGAGATCGAGACCATCCTG GCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACACACC ATGC	GEMIN8	ENSG00000046647.14	transcript	ENST00000680255.1	protein_coding		2586		chrX	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(281): Show GGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGG GAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGGGAGGGA GGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAA GGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGG GAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGAAGGGAGGGAGGGAGGGGA AGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02976.hp2 HG01884.hp2 HG02976.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0011 a0001c0001 a0013c0011	a0001c0001t0014 a0013c0011t0053 a0001c0001t0014 a0013c0011t0053	a0001c0001t0014g0044 a0013c0011t0053g0034 a0001c0001t0014g0044 a0013c0011t0053g0034	2	15	0.1333	288	c.229 others(307): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCC CTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCT CCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCTCCCT CCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCC CTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(281): Show GGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGG GAGGGGAAGGGAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGA GGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGG GGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGGAGGGAGGGAGGGGA AGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0172 a0001c0001t0028g0172	1	14	0.0714	288	c.229 others(307): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCT CCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTC CCCTCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCTCCCTCCCTCCCTCC CTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCTCCCTCCCTCC CTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GP6_chr19_55008705_55043264	55032891	A A	ACTCGTTC others(281): Show ACTCGTTCGTGTTAGACACGGTGGGCTCGTTCGTGTTAGACACGGTGGGC TCGTTCGTGTTAGACACGGTGGGCTCGTTCGTGTTAGACACGGTGGGCTC GTTCGTGTTAGACACGGTGGGCTCGTTCGTGTTAGACACGGTGGGCTCGT TCGTGTTAGACACGGTGGGCTCGTTCGTGTTAGACACGGTGGGCTCGTTC GTGTTAGACACGGTGGGCTCGTTCGTGTTAGACACGGTGGGCTCGTTCGT GTTAGACACGGTGGGCTCGTTCGTGTTAGACACGGTGGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0003 a0008c0010t0003	a0008c0010t0003g0351 a0008c0010t0003g0351	1	254	0.0039	288	c.35- others(301): Show c.35-354_35-353insCCCACCGTGTCTAACACGAACGAGCCCACCGT GTCTAACACGAACGAGCCCACCGTGTCTAACACGAACGAGCCCACCGTGT CTAACACGAACGAGCCCACCGTGTCTAACACGAACGAGCCCACCGTGTCT AACACGAACGAGCCCACCGTGTCTAACACGAACGAGCCCACCGTGTCTAA CACGAACGAGCCCACCGTGTCTAACACGAACGAGCCCACCGTGTCTAACA CGAACGAGCCCACCGTGTCTAACACGAACGAGCCCACCGTGTCTAACACG AACGAG	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GPR157_chr1_9095305_9134102	9116185	T T	TATATAAT others(281): Show TATATAATATAATTATATATATTATATATATAATATAATTATATATATTT ATATTATATATTATATATAATATAATTATATATAATTATATTATATATAT ATTATATTATATATAATTATATATAATTATATATATATTATATGTAATAT AAATATATATAATTATATTATATATATTATATGTAATATAATTATATATA TTTATATTATATATTATATATAATATAATTATATATATAATTATAATATA TATATAATATAATTATATATATAATTATATATATATTAC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0218	1	399	0.0025	288	c.384 others(305): Show c.384-4697_384-4696insGTAATATATATATAATTATATATATAAT TATATTATATATATATTATAATTATATATATAATTATATTATATATAATA TATAATATAAATATATATAATTATATTACATATAATATATATAATATAAT TATATATATTTATATTACATATAATATATATATAATTATATATAATTATA TATAATATAATATATATATAATATAATTATATATAATTATATTATATATA ATATATAATATAAATATATATAATTATATTATATATATAATATATATAAT TATATTATAT	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GPR158_chr10_25170001_25607229	25454270	T T	TCCTACAA others(281): Show TCCTACAACTTTACTGAATTCATTTATTCTTGAGGAAATGTAAATGCATA AATTGAAATAAAACCTTTCTGAAATGTGAATTCCTTCTTAAAAAATTATC TTCAACACAAGATTGGCAAGATGACGTTCCTTTTATTACTAAAAGGAAAT TCTATATCTCAGTTTCTGATTAAATGTTGATACTTTGGTTAGTTTCTATA TGGGAACAGTCACAGTGACAGACGGTGATATTTGAGGACATGAGAAGGCT CACTGTGCCAACATGTCATTCTCTAACTTTCGGAGATAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0015 a0002c0002t0003g0015	1	25	0.0400	288	c.133 others(309): Show c.1336-12381_1336-12380insCCTACAACTTTACTGAATTCATTT ATTCTTGAGGAAATGTAAATGCATAAATTGAAATAAAACCTTTCTGAAAT GTGAATTCCTTCTTAAAAAATTATCTTCAACACAAGATTGGCAAGATGAC GTTCCTTTTATTACTAAAAGGAAATTCTATATCTCAGTTTCTGATTAAAT GTTGATACTTTGGTTAGTTTCTATATGGGAACAGTCACAGTGACAGACGG TGATATTTGAGGACATGAGAAGGCTCACTGTGCCAACATGTCATTCTCTA ACTTTCGGAGATAA	GPR158	ENSG00000151025.11	transcript	ENST00000376351.4	protein_coding	4/10			chr10	TogoVar
GPR158_chr10_25170001_25607229	25454270	T T	TCCTACAA others(281): Show TCCTACAACTTTACTGAATTCATTTATTCTTGAGGAAATGTAAATGCATA AATTGAAATAAAACCTTTTTGAAATGTGAATTCCTTCTTAAAAAATTATC TTCAACACAAGATTGGCAAGATGACGTTCCTTTTATTACTAAAAGGAAAT TCTATATCTCAGTTTCTGATTAAATGTTGATACTTTGGTTAGTTTCTATA TGGGAACAGTCACAGTGACAGACGGTGATATTTGAGGACATGAGAAGGCT CACTGTGCCAACATGTCATTCTCTAACTTTCGGAGATAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(132): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02280.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA19003.hp1 NA19003.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0007 a0001c0013 others(17): Show a0001c0001 a0001c0007 a0001c0013 a0002c0002 a0002c0010 a0002c0018 a0003c0003 a0003c0019 a0004c0004 a0005c0005 a0006c0006 a0007c0009 a0007c0017 a0008c0008 a0009c0011 a0010c0021 a0011c0012 a0012c0020 a0013c0015 a0014c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0022 a0001c0001t0023 a0001c0007t0002 a0001c0007t0014 a0001c0013t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0010 a0002c0002t0012 a0002c0002t0013 a0002c0002t0017 a0002c0002t0021 a0002c0002t0024 a0002c0010t0001 a0002c0018t0020 a0003c0003t0002 a0003c0003t0003 a0003c0003t0009 a0003c0003t0011 a0003c0003t0019 a0003c0019t0003 a0004c0004t0002 a0004c0004t0003 a0004c0004t0013 a0004c0004t0016 a0005c0005t0001 a0005c0005t0002 a0005c0005t0006 a0005c0005t0018 a0006c0006t0001 a0006c0006t0002 a0007c0009t0002 a0007c0009t0003 a0007c0017t0001 a0008c0008t0003 a0009c0011t0002 a0010c0021t0006 a0011c0012t0006 a0012c0020t0001 a0013c0015t0002 a0014c0014t0001	a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0033 others(132): Show a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0156 a0001c0001t0002g0023 a0001c0001t0002g0048 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0086 a0001c0001t0002g0107 a0001c0001t0003g0019 a0001c0001t0003g0124 a0001c0001t0003g0126 a0001c0001t0003g0129 a0001c0001t0003g0135 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0119 a0001c0001t0004g0125 a0001c0001t0004g0130 a0001c0001t0004g0132 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0005g0002 a0001c0001t0005g0100 a0001c0001t0005g0149 a0001c0001t0006g0094 a0001c0001t0007g0104 a0001c0001t0007g0141 a0001c0001t0008g0003 a0001c0001t0008g0034 a0001c0001t0008g0152 a0001c0001t0010g0160 a0001c0001t0015g0112 a0001c0001t0022g0138 a0001c0001t0023g0128 a0001c0007t0002g0080 a0001c0007t0002g0082 a0001c0007t0002g0090 a0001c0007t0014g0081 a0001c0013t0002g0069 a0002c0002t0001g0024 a0002c0002t0001g0030 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0056 a0002c0002t0001g0059 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0001g0093 a0002c0002t0001g0096 a0002c0002t0001g0154 a0002c0002t0002g0038 a0002c0002t0002g0098 a0002c0002t0002g0115 a0002c0002t0003g0014 a0002c0002t0003g0017 a0002c0002t0007g0013 a0002c0002t0007g0016 a0002c0002t0007g0021 a0002c0002t0010g0159 a0002c0002t0010g0162 a0002c0002t0012g0140 a0002c0002t0013g0001 a0002c0002t0017g0103 a0002c0002t0021g0087 a0002c0002t0024g0020 a0002c0010t0001g0153 a0002c0018t0020g0157 a0003c0003t0002g0005 a0003c0003t0002g0008 a0003c0003t0002g0011 a0003c0003t0002g0045 a0003c0003t0002g0111 a0003c0003t0003g0131 a0003c0003t0003g0133 a0003c0003t0003g0147 a0003c0003t0009g0037 a0003c0003t0009g0127 a0003c0003t0009g0145 a0003c0003t0011g0006 a0003c0003t0011g0010 a0003c0003t0019g0004 a0003c0019t0003g0120 a0004c0004t0002g0012 a0004c0004t0002g0029 a0004c0004t0002g0031 a0004c0004t0002g0036 a0004c0004t0002g0042 a0004c0004t0002g0097 a0004c0004t0002g0102 a0004c0004t0003g0032 a0004c0004t0003g0121 a0004c0004t0003g0139 a0004c0004t0003g0143 a0004c0004t0003g0144 a0004c0004t0013g0161 a0004c0004t0016g0099 a0005c0005t0001g0150 a0005c0005t0002g0079 a0005c0005t0002g0151 a0005c0005t0006g0071 a0005c0005t0018g0072 a0006c0006t0001g0075 a0006c0006t0001g0077 a0006c0006t0002g0074 a0006c0006t0002g0076 a0007c0009t0002g0122 a0007c0009t0003g0134 a0007c0017t0001g0067 a0008c0008t0003g0123 a0008c0008t0003g0146 a0008c0008t0003g0148 a0009c0011t0002g0078 a0010c0021t0006g0083 a0011c0012t0006g0070 a0012c0020t0001g0084 a0013c0015t0002g0116 a0014c0014t0001g0026	135	159	0.8491	288	c.133 others(309): Show c.1336-12381_1336-12380insCCTACAACTTTACTGAATTCATTT ATTCTTGAGGAAATGTAAATGCATAAATTGAAATAAAACCTTTTTGAAAT GTGAATTCCTTCTTAAAAAATTATCTTCAACACAAGATTGGCAAGATGAC GTTCCTTTTATTACTAAAAGGAAATTCTATATCTCAGTTTCTGATTAAAT GTTGATACTTTGGTTAGTTTCTATATGGGAACAGTCACAGTGACAGACGG TGATATTTGAGGACATGAGAAGGCTCACTGTGCCAACATGTCATTCTCTA ACTTTCGGAGATAA	GPR158	ENSG00000151025.11	transcript	ENST00000376351.4	protein_coding	4/10			chr10	TogoVar
GPRIN1_chr5_176590802_176615156	176591765	G G	GGTGTTGA others(281): Show GGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGT GTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGAT GGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGAT GATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGT GATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGT GGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02647.hp1 HG02258.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0035	2	379	0.0053	288	c.50 others(299): Show c.5042_*5043insAACCATCACCATCACCTCAACACCAACACCATCA TCACCACCATCACCATCACAACCATCACCATCACCTCAACACCAACACCA TCATCACCACCATCACCATCACAACCATCACCATCACCTCAACACCAACA CCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAACACCA ACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAACA CCAACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCA ACAC	GPRIN1	ENSG00000169258.7	transcript	ENST00000303991.5	protein_coding		4036		chr5	TogoVar
GRHL1_chr2_9946693_10007277	9998889	C C	CACATATA others(281): Show CACATATATATGTACACATATATGTACACATATATATGTACACATATATG TACACATATATATGTACACATATATGTACACATATATATGTACACATATA TGTACACATATATATGTACACATATATGTACACATATATATGTACACATA TATGTACACATATATATGTACATATATATGTACACATATATATGTACATA TATATGTACACATATATATGTACATATATATGTACACATATATATATACA TATATATATACATATATATGTACACATATATATATACAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0279 a0001c0001t0002g0279	1	169	0.0059	288	c.167 others(303): Show c.1678-75_1678-74insCATATATATGTACACATATATGTACACATA TATATGTACACATATATGTACACATATATATGTACACATATATGTACACA TATATATGTACACATATATGTACACATATATATGTACACATATATGTACA CATATATATGTACACATATATGTACACATATATATGTACATATATATGTA CACATATATATGTACATATATATGTACACATATATATGTACATATATATG TACACATATATATATACATATATATATACATATATATGTACACATATATA TATACATA	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GSE1_chr16_85608322_85681200	85653201	C C	CCCTCCCC others(281): Show CCCTCCCCCTCCTCCCCTCCTCCTCCCCCTCTCCTCCTCCCCCCCTCCCA CTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCC CCTCCTCCCCCCTCCTCCCCCTCCTCCCCCCCCTCCTCCTCCCCTCCTCC TCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCCCCCTCCTCCCCCCCCC TCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCC TCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0181 a0001c0003t0001g0181	1	160	0.0063	288	c.427 others(305): Show c.427-1072_427-1071insCCCTCCTCCCCTCCTCCTCCCCCTCTCC TCCTCCCCCCCTCCCACTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCC TCCCCCCCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCTCCTCCCCCCCCT CCTCCTCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCC CCCTCCTCCCCCCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTCC TCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCC CCCCTCCTCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GUCY1A2_chr11_106669019_107023476	106787587	A A	AGGAAGGG others(281): Show AGGAAGGGGAGGGTGAGGGAGGGGGGAGGAGGGAAGGGGGAGGGGGGAGG AGGGAAGGGGGAGGGGGGAGGAGGGAAGGGGGAGGGGGGAGGGGGAAGGG AAGGGAGGGAAGGGAAGGGTGGGAGGGGAGGGGGGAGCGGAAGGGAAGGG TCAGAGGGGAGGGGGAGGGGGAGGGGGGAGGGAGAGAGGGAGGAGAGAGG GAGGGGAAAGGGAGGGGAAGGGAAGGGTGAGAAGGGAAGGGGAGGGGAGG GGTGGGGAAAAGGGAGGGGAAGGGCAGGGGAAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02293.hp2 NA18941.hp2 HG02293.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0048 a0001c0001t0001 a0001c0001t0048	a0001c0001t0001g0021 a0001c0001t0048g0003 a0001c0001t0001g0021 a0001c0001t0048g0003	2	9	0.2222	288	c.169 others(309): Show c.1693-11006_1693-11005insCCTCCCCTTCCCCTGCCCTTCCCC TCCCTTTTCCCCACCCCTCCCCTCCCCTTCCCTTCTCACCCTTCCCTTCC CCTCCCTTTCCCCTCCCTCTCTCCTCCCTCTCTCCCTCCCCCCTCCCCCT CCCCCTCCCCTCTGACCCTTCCCTTCCGCTCCCCCCTCCCCTCCCACCCT TCCCTTCCCTCCCTTCCCTTCCCCCTCCCCCCTCCCCCTTCCCTCCTCCC CCCTCCCCCTTCCCTCCTCCCCCCTCCCCCTTCCCTCCTCCCCCCTCCCT CACCCTCCCCTTCC	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	5/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106787587	A A	AGGAAGGG others(281): Show AGGAAGGGGAGGGTGAGGGAGGGGGGAGGAGGGAAGGGGGAGGGGGGAGG AGGGAAGGGGGAGGGGGGAGGAGGGAAGGGGGAGGGGGGAGGGGGAAGGG AAGGGAGGGAAGGGAAGGGTGGGAGGGGAGGGGGGGAGCGGAAGGGAAGG GTCAGAGGGGAGGGGGAGGGGGAGGGGGAGGGAGAGAGGGAGGAGAGAGG GAGGGGAAAGGGAGGGGAAGGGAAGGGTGAGAAGGGAAGGGGAGGGGAGG GGTGGGGAAAAGGGAGGGGAAGGGCAGGGGAAGGGGAGG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	8	0.1250	288	c.169 others(309): Show c.1693-11006_1693-11005insCCTCCCCTTCCCCTGCCCTTCCCC TCCCTTTTCCCCACCCCTCCCCTCCCCTTCCCTTCTCACCCTTCCCTTCC CCTCCCTTTCCCCTCCCTCTCTCCTCCCTCTCTCCCTCCCCCTCCCCCTC CCCCTCCCCTCTGACCCTTCCCTTCCGCTCCCCCCCTCCCCTCCCACCCT TCCCTTCCCTCCCTTCCCTTCCCCCTCCCCCCTCCCCCTTCCCTCCTCCC CCCTCCCCCTTCCCTCCTCCCCCCTCCCCCTTCCCTCCTCCCCCCTCCCT CACCCTCCCCTTCC	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	5/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106787587	A A	AGGAAGGG others(281): Show AGGAAGGGGAGGGTGAGGGAGGGGGGAGGAGGGAAGGGGGAGGGGGGAGG AGGGAAGGGGGAGGGGGGAGGAGGGAAGGGGGAGGGGGGGAGGGGGAAGG GAAGGGAGGGAAGGGAAGGGTGGGAGGGGAGGGGGGAGCGGAAGGGAAGG GTCAGAGGGGAGGGGGAGGGGGAGGGGGAGGGAGAGAGGGAGGAGAGAGG GAGGGGAAAGGGAGGGGAAGGGAAGGGTGAGAAGGGAAGGGGAGGGGAGG GGTGGGGAAAAGGGAGGGGAAGGGCAGGGGAAGGGGAGG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02896.hp1 NA18974.hp2 others(1): Show HG00597.hp1 HG02896.hp1 NA18974.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0046 a0001c0001t0001 a0001c0001t0007 a0001c0001t0046	a0001c0001t0001g0142 a0001c0001t0007g0010 a0001c0001t0007g0164 others(1): Show a0001c0001t0001g0142 a0001c0001t0007g0010 a0001c0001t0007g0164 a0001c0001t0046g0030	4	11	0.3636	288	c.169 others(309): Show c.1693-11006_1693-11005insCCTCCCCTTCCCCTGCCCTTCCCC TCCCTTTTCCCCACCCCTCCCCTCCCCTTCCCTTCTCACCCTTCCCTTCC CCTCCCTTTCCCCTCCCTCTCTCCTCCCTCTCTCCCTCCCCCTCCCCCTC CCCCTCCCCTCTGACCCTTCCCTTCCGCTCCCCCCTCCCCTCCCACCCTT CCCTTCCCTCCCTTCCCTTCCCCCTCCCCCCCTCCCCCTTCCCTCCTCCC CCCTCCCCCTTCCCTCCTCCCCCCTCCCCCTTCCCTCCTCCCCCCTCCCT CACCCTCCCCTTCC	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	5/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106787587	A A	AGGAAGGG others(281): Show AGGAAGGGGAGGGTGAGGGAGGGGGGAGGAGGGAAGGGGGAGGGGGGGAG GAGGGAAGGGGGAGGGGGGAGGAGGGAAGGGGGAGGGGGGAGGGGGAAGG GAAGGGAGGGAAGGGAAGGGTGGGAGGGGAGGGGGGAGCGGAAGGGAAGG GTCAGAGGGGAGGGGGAGGGGGAGGGGGAGGGAGAGAGGGAGGAGAGAGG GAGGGGAAAGGGAGGGGAAGGGAAGGGTGAGAAGGGAAGGGGAGGGGAGG GGTGGGGAAAAGGGAGGGGAAGGGCAGGGGAAGGGGAGG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0190 a0001c0004t0001g0190	1	8	0.1250	288	c.169 others(309): Show c.1693-11006_1693-11005insCCTCCCCTTCCCCTGCCCTTCCCC TCCCTTTTCCCCACCCCTCCCCTCCCCTTCCCTTCTCACCCTTCCCTTCC CCTCCCTTTCCCCTCCCTCTCTCCTCCCTCTCTCCCTCCCCCTCCCCCTC CCCCTCCCCTCTGACCCTTCCCTTCCGCTCCCCCCTCCCCTCCCACCCTT CCCTTCCCTCCCTTCCCTTCCCCCTCCCCCCTCCCCCTTCCCTCCTCCCC CCTCCCCCTTCCCTCCTCCCCCCCTCCCCCTTCCCTCCTCCCCCCTCCCT CACCCTCCCCTTCC	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	5/7			chr11	TogoVar
HCN1_chr5_45249948_45701380	45376251	A A	AGAATATA others(281): Show AGAATATAGAATATATATTCTATATAGAATCTATATTCTATATAGATTCT ATATTCTATATAGAATATATATTCTATATAGAATATAGAATCTATATAGA ATATAGATTCTATATTCTATATAGAATATATATTCTATAGAATATATATT CTATATTCTATATAGAATATATATTCTATATAGAATATAGAATATATATT CTATATAGAATATAGAATATATATTCTATATTACATATAGAATATAGAAT ATATATTCTATATAGAATATATATTCTATATAATATATG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02055.hp1 HG02717.hp1 others(2): Show HG01261.hp2 HG02055.hp1 HG02717.hp1 HG03579.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0005g0125 others(2): Show a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0005g0125 a0001c0001t0005g0127 a0001c0001t0005g0128	5	7	0.7143	288	c.123 others(309): Show c.1230+20240_1230+20241insCATATATTATATAGAATATATATT CTATATAGAATATATATTCTATATTCTATATGTAATATAGAATATATATT CTATATTCTATATAGAATATATATTCTATATTCTATATAGAATATATATT CTATATAGAATATAGAATATATATTCTATAGAATATATATTCTATATAGA ATATAGAATCTATATTCTATATAGATTCTATATTCTATATAGAATATATA TTCTATATAGAATATAGAATCTATATAGAATATAGATTCTATATAGAATA TATATTCTATATTC	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN1_chr5_45249948_45701380	45376251	A A	AGAATATA others(281): Show AGAATATAGAATATATATTCTATATAGAATCTATATTCTATATAGATTCT ATATTCTATATAGAATATATATTCTATATAGAATATAGAATCTATATAGA ATATAGATTCTATATTCTATATAGAATATATATTCTATAGAATATATATT CTATATTCTATATAGAATATATATTCTATATAGAATATAGAATCTATATT CTATATAGAATATAGAATATATATTCTATATTACATATAGAATATAGAAT ATATATTCTATATAGAATATATATTCTATATAATATATG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0154 a0001c0001t0005g0154	1	3	0.3333	288	c.123 others(309): Show c.1230+20240_1230+20241insCATATATTATATAGAATATATATT CTATATAGAATATATATTCTATATTCTATATGTAATATAGAATATATATT CTATATTCTATATAGAATATAGATTCTATATTCTATATAGAATATATATT CTATATAGAATATAGAATATATATTCTATAGAATATATATTCTATATAGA ATATAGAATCTATATTCTATATAGATTCTATATTCTATATAGAATATATA TTCTATATAGAATATAGAATCTATATAGAATATAGATTCTATATAGAATA TATATTCTATATTC	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN1_chr5_45249948_45701380	45376251	A A	AGAATATA others(281): Show AGAATATAGAATATATATTCTATATAGAATCTATATTCTATATAGATTCT ATATTCTATATAGAATATATATTCTATATAGAATATAGAATCTATATAGA ATATATATTCTATATTCTATATAGAATATATATTCTATAGAATATATATT CTATATTCTATATAGAATATATATTCTATATAGAATATAGAATATATATT CTATATAGAATATAGAATATATATTCTATATTACATATAGAATATAGAAT ATATATTCTATATAGAATATATATTCTATATAATATATG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03453.hp1 HG02897.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0121 a0001c0001t0005g0122 a0001c0001t0005g0121 a0001c0001t0005g0122	2	4	0.5000	288	c.123 others(309): Show c.1230+20240_1230+20241insCATATATTATATAGAATATATATT CTATATAGAATATATATTCTATATTCTATATGTAATATAGAATATATATT CTATATTCTATATAGAATATATATTCTATATTCTATATAGAATATATATT CTATATAGAATATAGAATATATATTCTATAGAATATATATTCTATATAGA ATATAGAATATATATTCTATATAGATTCTATATTCTATATAGAATATATA TTCTATATAGAATATAGAATCTATATAGAATATAGATTCTATATAGAATA TATATTCTATATTC	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HERC3_chr4_88587480_88713539	88698989	T T	TTTCCTCA others(281): Show TTTCCTCACGCTCCTCACCCTCTTCTTCCTCACCCTCTTCACCCTCTTCT TCCTCACGCTCCTCACCCTCTTCTTCCTCACCCTCTTCACCCTCTTCTTC CTCACGCTCCTCACCCTCTTCTTCCTCACCCTCTTCACCCTCTTCTTCCT CACGCTCCTCACCCTCTTCTTCCTCACCCTCTTCACCCTCTTCTTCCTCA CGCTCCTCACCCTCTTCTTCCTCACCCTCTTCACCCTCTTCTTCCTCACG CTCCTCACCCTCTTCTTCCTCACCCTCTTCACCCTCTTC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0220 a0001c0001t0008g0220	1	186	0.0054	288	c.265 others(307): Show c.2658-4865_2658-4864insTCACGCTCCTCACCCTCTTCTTCCTC ACCCTCTTCACCCTCTTCTTCCTCACGCTCCTCACCCTCTTCTTCCTCAC CCTCTTCACCCTCTTCTTCCTCACGCTCCTCACCCTCTTCTTCCTCACCC TCTTCACCCTCTTCTTCCTCACGCTCCTCACCCTCTTCTTCCTCACCCTC TTCACCCTCTTCTTCCTCACGCTCCTCACCCTCTTCTTCCTCACCCTCTT CACCCTCTTCTTCCTCACGCTCCTCACCCTCTTCTTCCTCACCCTCTTCA CCCTCTTCTTCC	HERC3	ENSG00000138641.18	transcript	ENST00000402738.6	protein_coding	23/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC3_chr4_88587480_88713539	88699285	T T	TTCCCCAC others(281): Show TTCCCCACCCACCCACCCAGCCCCACCCCACTCATCGACCCAGCTCCACC CTCTTCTTCCCCACCGACCCACCCCTACCCTCTTCCCCACCCACCCACCC CTACCCGCTTCTTCTCCACCCACCCACCCAGCCCCACCCCACTCATCGAC CCAGCTCCACCCTCTTCTTCCCCACCGACCCACCCCTACCCTCTTCCCCA CCCACCCACCCCTACCCGCTTCTTCTCCACCCACCCACCCAGCCCCACCC TATTCCTCCCCACCCACCCACCCAGCCCCACCCTCTTCC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0199 a0001c0001t0003g0199	1	212	0.0047	288	c.265 others(307): Show c.2658-4786_2658-4785insCACTCATCGACCCAGCTCCACCCTCT TCTTCCCCACCGACCCACCCCTACCCTCTTCCCCACCCACCCACCCCTAC CCGCTTCTTCTCCACCCACCCACCCAGCCCCACCCCACTCATCGACCCAG CTCCACCCTCTTCTTCCCCACCGACCCACCCCTACCCTCTTCCCCACCCA CCCACCCCTACCCGCTTCTTCTCCACCCACCCACCCAGCCCCACCCTATT CCTCCCCACCCACCCACCCAGCCCCACCCTCTTCCTCCCCACCCACCCAC CCAGCCCCACCC	HERC3	ENSG00000138641.18	transcript	ENST00000402738.6	protein_coding	23/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
HIVEP3_chr1_41501365_41923922	41544858	C C	CCACCACC others(281): Show CCACCACCACTACCACCTCTACCACCACCATCACCACCACCACTACCACC ACCACCACCACCACCTCTACCACCTCTACCACCTCTACCACCACGACCAC CACTACCACCTCTACCACCACCATCATCACCACCACCACTACCACCTCTA CCACCACCATCACCACCACCACCACCATCACCACCACCACCACCATCACC ACCTCTACCACCACCATCACCACCACCACCATCACCACCTCTACCACCAC CATCACCACCACCACCACCATCACCTCTACCACCACCAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0016 a0016	a0016c0017 a0016c0017	a0016c0017t0053 a0016c0017t0053	a0016c0017t0053g0043 a0016c0017t0053g0043	1	127	0.0079	288	c.520 others(309): Show c.5208-19949_5208-19948insATGGTGGTGGTAGAGGTGATGGTG GTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATGGTGGTGGTGGTGAT GGTGGTGGTAGAGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGATGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGATGATGGTGGTG GTAGAGGTGGTAGTGGTGGTCGTGGTGGTAGAGGTGGTAGAGGTGGTAGA GGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGATGGTGGTGGTAGAGG TGGTAGTGGTGGTG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HS3ST2_chr16_22809162_22921338	22819134	T T	TCCTTCCC others(281): Show TCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTC ATTCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCC TCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT TCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0004 a0001c0005t0002g0004	1	244	0.0041	288	c.485 others(305): Show c.485+4045_485+4046insCTCCTTCCTTCCTTCCTTCCCTCCTTCC TTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTT CCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCC TCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTT CCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTC CCTCCCTTCC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS6ST1_chr2_128260480_128323868	128298069	T T	TAAGATGA others(281): Show TAAGATGAACATCGTCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGA GGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAATTAGCCGGTCGTAGTGGCAGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp1 HG02723.hp1 others(6): Show HG02258.hp1 HG02615.hp1 HG02723.hp1 HG02818.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0011 a0001c0001t0029 others(3): Show a0001c0001t0007 a0001c0001t0011 a0001c0001t0029 a0001c0001t0056 a0001c0001t0082 a0001c0001t0093	a0001c0001t0007g0029 a0001c0001t0007g0031 a0001c0001t0011g0033 others(6): Show a0001c0001t0007g0029 a0001c0001t0007g0031 a0001c0001t0011g0033 a0001c0001t0011g0035 a0001c0001t0011g0036 a0001c0001t0029g0263 a0001c0001t0056g0034 a0001c0001t0082g0262 a0001c0001t0093g0264	9	281	0.0320	288	c.527 others(307): Show c.527+19967_527+19968insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACTACGACCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAC GATGTTCATCTT	HS6ST1	ENSG00000136720.7	transcript	ENST00000259241.7	protein_coding	1/1			chr2	TogoVar
HS6ST1_chr2_128260480_128323868	128298069	T T	TAAGATGA others(281): Show TAAGATGAACATCGTCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGA GGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAATTAGCCGGTCGTAGTGGCAGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0028 a0001c0001t0024g0028	1	273	0.0037	288	c.527 others(307): Show c.527+19967_527+19968insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACTACGACCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAC GATGTTCATCTT	HS6ST1	ENSG00000136720.7	transcript	ENST00000259241.7	protein_coding	1/1			chr2	TogoVar
HSPA12A_chr10_116666192_116747566	116732328	C C	CAAAGAAA others(281): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	46	0.0217	288	c.40+ others(305): Show c.40+10101_40+10102insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	HSPA12A	ENSG00000165868.16	transcript	ENST00000369209.8	protein_coding	1/11			chr10	TogoVar
ICA1_chr7_8108184_8267167	8152758	T T	TCACCACT others(281): Show TCACCACTACCCCCACCACTACCACCATCACCTCCACCACCATCACCACC ACCACCACCACCACCATCTCCTTCAACACCACTACCCCCACCACTATCAC CATCACCATCACCTCCACCACCACCACCATCTCCTTCATCACCACTACCC CCACCACTACCACCATCACCTCCTCCACCATCACCACCACCACCACAACC ACCATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCAC CACCATCACCACCACCACCACCACCACCATCTCCTTCAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp1 HG01192.hp2 others(1): Show HG00738.hp1 HG01074.hp1 HG01192.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0057 a0001c0001t0002g0193 a0001c0001t0002g0194 others(1): Show a0001c0001t0002g0057 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0006g0239	4	267	0.0150	288	c.804 others(305): Show c.804+4357_804+4358insTTGAAGGAGATGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATG AAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGT GGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTGGTGGTGGAGG TGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGTTGAAGGAGATGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGAGGTGATGGTGGTAGTGGTGGG GGTAGTGGTG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFNAR1_chr21_33319970_33364864	33321387	A A	ATATATGG others(281): Show ATATATGGAACCAATACATATATGGAACATATGTATGTGGAACCAATACA TATATGGAACATATGTATGTGGAACCAATACATATATGGAACATATGTAT GTGGAACCAATACATATATGGAACATATGTATGTGGAACCAATACATATA TGGAACATATGTATGTGGAACCAATACATATATGGAACATATGTATGTGG AACCAATACATATATGGAACATATGTATGTGGAACCAATACATATATGGA ACATATGTATGTGGAACCAATACATATATGGAACATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0010 a0003c0003t0004g0010	1	320	0.0031	288	c.-36 others(299): Show c.-3669_-3668insTATATGGAACCAATACATATATGGAACATATGTA TGTGGAACCAATACATATATGGAACATATGTATGTGGAACCAATACATAT ATGGAACATATGTATGTGGAACCAATACATATATGGAACATATGTATGTG GAACCAATACATATATGGAACATATGTATGTGGAACCAATACATATATGG AACATATGTATGTGGAACCAATACATATATGGAACATATGTATGTGGAAC CAATACATATATGGAACATATGTATGTGGAACCAATACATATATGGAACA TATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3582		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321391	G G	ATGGAACC others(281): Show ATGGAACCAATACATATATGGAACATATGTATGTGGAACCAATACATATA TGGAACATATGTATGTGGAACCAATACATATATGGAACATATGTATGTGG AACCAATACATATATGGAACATATGTATGTGGAACCAATACATATATGGA ACATATGTATGTGGAACCAATACATATATGGAACATATGTATGTGGAACC AATACATATATGGAACATATGTATGTGGAACCAATACATATATGGAACAT ATGTATGTGGAACCAATACATATATGGAACATATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02572.hp1 HG02809.hp2 others(1): Show HG02559.hp2 HG02572.hp1 HG02809.hp2 HG02922.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0010 a0003c0003t0004 a0001c0001t0010 a0003c0003t0004	a0001c0001t0010g0103 a0003c0003t0004g0010 a0003c0003t0004g0122 others(1): Show a0001c0001t0010g0103 a0003c0003t0004g0010 a0003c0003t0004g0122 a0003c0003t0004g0124	4	280	0.0143	288	c.-36 others(299): Show c.-3666_-3665insATGGAACCAATACATATATGGAACATATGTATGT GGAACCAATACATATATGGAACATATGTATGTGGAACCAATACATATATG GAACATATGTATGTGGAACCAATACATATATGGAACATATGTATGTGGAA CCAATACATATATGGAACATATGTATGTGGAACCAATACATATATGGAAC ATATGTATGTGGAACCAATACATATATGGAACATATGTATGTGGAACCAA TACATATATGGAACATATGTATGTGGAACCAATACATATATGGAACATAT GTAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3579		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321475	G G	GAACATAT others(281): Show GAACATATGTATGTGGAACCAATACATATATGGAACATATGTATGTGGAA CCAATACATATATGGAACATATGTATGTGGAACCAATACATATATGGAAC ATATGTATGTGGAACCAATACATATATGGAACATATGTATGTGGAACCAA TACATATATGGAACATATGTATGTGGAACCAATACATATATGGAACATAT GTATGTGGAACCAATACATATATGGAACATATGTATGTGGAACCAATACA TATATGGAACATATGTATGTGGAACCAATACATATATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0118 a0002c0002t0016g0118	1	185	0.0054	288	c.-35 others(299): Show c.-3581_-3580insAACATATGTATGTGGAACCAATACATATATGGAA CATATGTATGTGGAACCAATACATATATGGAACATATGTATGTGGAACCA ATACATATATGGAACATATGTATGTGGAACCAATACATATATGGAACATA TGTATGTGGAACCAATACATATATGGAACATATGTATGTGGAACCAATAC ATATATGGAACATATGTATGTGGAACCAATACATATATGGAACATATGTA TGTGGAACCAATACATATATGGAACATATGTATGTGGAACCAATACATAT ATGC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3494		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321482	C C	CATATGTG others(281): Show CATATGTGGAACCAATACATATATGGAACATACATATGTGGAACCAATAC ATATATGGAACATACATATGTGGAACCAATACATATATGGAACATACATA TGTGGAACCAATACATATATGGAACATACATATGTGGAACCAATACATAT ATGGAACATACATATGTGGAACCAATACATATATGCAACATACATATGTG GAACCAATACATATATGCAACATACATATGTGGAACCAATACATATATGC AACATACATATGTGGAACCAATACATATATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0017 a0003c0003t0017	a0003c0003t0017g0131 a0003c0003t0017g0131	1	161	0.0062	288	c.-35 others(299): Show c.-3574_-3573insATATGTGGAACCAATACATATATGGAACATACAT ATGTGGAACCAATACATATATGGAACATACATATGTGGAACCAATACATA TATGGAACATACATATGTGGAACCAATACATATATGGAACATACATATGT GGAACCAATACATATATGGAACATACATATGTGGAACCAATACATATATG CAACATACATATGTGGAACCAATACATATATGCAACATACATATGTGGAA CCAATACATATATGCAACATACATATGTGGAACCAATACATATATGCAAC ATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3487		chr21	TogoVar
IHO1_chr3_49194498_49263106	49200511	G G	GAGAGAGA others(281): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAAGGAAAGGA AAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA AAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0047 a0002c0003t0002g0047	1	182	0.0055	288	c.-16 others(303): Show c.-16+939_-16+940insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAAAGAAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GAAAAGAA	IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
IL17REL_chr22_49986811_50017765	50009894	T T	TGGCGGCA others(281): Show TGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGT GACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGG TGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGG CAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCT CAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGA ATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01255.hp2 HG02055.hp2 others(13): Show HG01192.hp2 HG01255.hp2 HG02055.hp2 HG02109.hp1 HG02486.hp2 HG02572.hp2 HG02647.hp2 HG02683.hp1 HG02965.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp2 HG03704.hp1 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0009 a0001c0001t0020 a0001c0003t0007 others(4): Show a0001c0001t0009 a0001c0001t0020 a0001c0003t0007 a0001c0003t0010 a0001c0003t0014 a0001c0003t0051 a0002c0002t0003	a0001c0001t0009g0285 a0001c0001t0020g0094 a0001c0001t0020g0095 others(9): Show a0001c0001t0009g0285 a0001c0001t0020g0094 a0001c0001t0020g0095 a0001c0003t0007g0162 a0001c0003t0010g0037 a0001c0003t0010g0074 a0001c0003t0010g0159 a0001c0003t0010g0160 a0001c0003t0014g0011 a0001c0003t0051g0161 a0002c0002t0003g0279 a0002c0002t0003g0280	16	118	0.1356	288	c.103 others(305): Show c.103-1231_103-1230insGATTCCACACCAGACTGAGGGTCACTGA CTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCC ACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGG GTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCG CCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCA GACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACT GACTGCCGCC	IL17REL	ENSG00000188263.11	transcript	ENST00000695950.1	protein_coding	1/14			chr22	TogoVar
IL1RAPL1_chrX_28582446_29961718	29568116	T T	TATTTAAA others(281): Show TATTTAAAGATCAAAAATAACAGATTATTCTTGATTTAAAGATCAAGAAT AACAGATTATTCTTGATTTAAAGATCAAGAATAACAGATTATTCTTGATT TAAAGATCAAGAATAACAGATTATTCTTGATTTAAAGATCAAGAATAACA GATTATTCTTGATTTAAAGATCAAGAATAACAGATTATTCTTGATTTAAA GATCAAGAATAACAGATTATTCTTGATTTAAAGATCAAGAATAACAGATT ATTCTTGATTTAAAGATCAAGAATAACAGATTATTCTTG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	14	0.0714	288	c.704 others(309): Show c.704-100301_704-100300insAAATAACAGATTATTCTTGATTTA AAGATCAAGAATAACAGATTATTCTTGATTTAAAGATCAAGAATAACAGA TTATTCTTGATTTAAAGATCAAGAATAACAGATTATTCTTGATTTAAAGA TCAAGAATAACAGATTATTCTTGATTTAAAGATCAAGAATAACAGATTAT TCTTGATTTAAAGATCAAGAATAACAGATTATTCTTGATTTAAAGATCAA GAATAACAGATTATTCTTGATTTAAAGATCAAGAATAACAGATTATTCTT GATTTAAAGATCAA	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	105307659	A A	ATATATAT others(281): Show ATATATATTATATATAATATATATTTTATATTATATATATTATATATAAT ATATATTTTATATTATATATATTATATATAATATATATTTTATATTGTAT ATATTATATATAATATATATTTTATATTGTATATATTATATATAATATAT ATTTTATATTGTATATATTATATATAATATATATTTTATATTGTATATAT TATATATAATATATATTTTATATTGTATATATTATATATAATATATATTT TATATTGTATATATTATATATAATATATATTTTATATTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG02622.hp2 others(1): Show HG01243.hp2 HG02145.hp1 HG02622.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 others(1): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0002g0139	4	138	0.0290	288	c.697 others(307): Show c.697+40131_697+40132insTAATATATATTTTATATTATATATAT TATATATAATATATATTTTATATTATATATATTATATATAATATATATTT TATATTGTATATATTATATATAATATATATTTTATATTGTATATATTATA TATAATATATATTTTATATTGTATATATTATATATAATATATATTTTATA TTGTATATATTATATATAATATATATTTTATATTGTATATATTATATATA ATATATATTTTATATTGTATATATTATATATAATATATATTTTATATTGT ATATATTATATA	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
INS_chr11_2154779_2166209	2161578	A A	AGACCCCT others(281): Show AGACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCAGGACC CCTGTGCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGGACCCCTGTCC CCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACC CCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCC CGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACC CCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02630.hp1 HG02132.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	2	205	0.0098	288	c.-42 others(297): Show c.-429_-428insCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTC CCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTCCTGGGGACAGGGGTCTGAGGACAGGGGTGTGGGCAC AGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGG TC	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		370		chr11	TogoVar
IPCEF1_chr6_154149496_154361803	154354415	A A	ACCTCCAC others(281): Show ACCTCCACCACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTC CTCCACCACCACCTCCACCATCTCCTCCACAACCACCTCCACCATCTCCT CCACCACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCC ACCACCACCTCCACCATCTCCTCCACAACCACCTCCACCATCTCCTCCAC CACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCACCA CCACCTCCACCATCTCCTCCACAACCACCTCCACCATCT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19084.hp2 NA18945.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0022 a0001c0001t0002g0021 a0001c0001t0001g0022 a0001c0001t0002g0021	2	148	0.0135	288	c.-62 others(305): Show c.-62+2256_-62+2257insAGATGGTGGAGGTGGTTGTGGAGGAGAT GGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGG TGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTTGTGGAGGAGATGGTG GAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGA GGTGGTGGTGGAGGAGATGGTGGAGGTGGTTGTGGAGGAGATGGTGGAGG TGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTG GTGGTGGAGG	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11			chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154354415	A A	ACCTCCAC others(281): Show ACCTCCACCACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTC CTCCACCACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCT CCACAACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCC ACCACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCAC CACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCACCA CCACCTCCACCATCTCCTCCACCACCACCTCCACCATCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	147	0.0068	288	c.-62 others(305): Show c.-62+2256_-62+2257insAGATGGTGGAGGTGGTGGTGGAGGAGAT GGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGG TGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTG GAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGA GGTGGTTGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGAGG TGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTG GTGGTGGAGG	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11			chr6	TogoVar
IRAK2_chr3_10159919_10248745	10224728	C C	CCATCCAT others(281): Show CCATCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCT GTCCACCCATCCATCCACCCACCCACCTGTCCACCCATCCATCCACCCAC CCACCCACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCC ACCCACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCAC CCACCCATCCATCCACCCACCCACCTGTCCACCCATGTACCCACCCTCCC ACCAACCCACCCACCCATCCATTTATCCACCTACCCACA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp2 HG03669.hp1 others(2): Show HG02258.hp1 HG02647.hp2 HG03669.hp1 NA18973.hp2 NA19030.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0001 a0003c0004t0001g0017 a0003c0004t0001g0018 others(2): Show a0003c0004t0001g0001 a0003c0004t0001g0017 a0003c0004t0001g0018 a0003c0004t0001g0142 a0003c0004t0001g0180	5	263	0.0190	288	c.121 others(307): Show c.1210-1629_1210-1628insCCCACCCACCCACCCATCCATCCACC CACCCACCTGTCCACCCATCCATCCACCCACCCACCTGTCCACCCATCCA TCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCATCCATC CACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCATCCATCCA CCCACCCACCCACCCATCCATCCACCCACCCACCTGTCCACCCATGTACC CACCCTCCCACCAACCCACCCACCCATCCATTTATCCACCTACCCACACA TCCATCCATCCA	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
JAKMIP1_chr4_6021199_6205549	6067750	G G	GCAGGTCA others(281): Show GCAGGTCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCCGCACACAC AGGTCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCTGCACACGCAG GTCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCCGCACACACAGGT CACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCTGCACACGCAGGTCA CCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCTGCACACACAGGTCACC CCCCTGAGCTCCACGTTCACTCAAGCTCTTCTGCACACA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03579.hp1 HG03195.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0208 a0001c0001t0001g0184 a0001c0001t0001g0208	2	212	0.0094	288	c.130 others(307): Show c.1303-2743_1303-2742insTGTGTGCAGAAGAGCTTGAGTGAACG TGGAGCTCAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACGTG GAGCTCAGGGGGGTGACCTGCGTGTGCAGAAGAGCTTGAGTGAACGTGGA GCTCAGGGGGGTGACCTGTGTGTGCGGAAGAGCTTGAGTGAACGTGGAGC TCAGGGGGGTGACCTGCGTGTGCAGAAGAGCTTGAGTGAACGTGGAGCTC AGGGGGGTGACCTGTGTGTGCGGAAGAGCTTGAGTGAACGTGGAGCTCAG GGGGGTGACCTG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
JAKMIP2_chr5_147580438_147787728	147764930	G G	GAAAGAAA others(281): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0204 a0001c0002t0005g0204	1	203	0.0049	288	c.-14 others(309): Show c.-149+17525_-149+17526insTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
KALRN_chr3_124028369_124731325	124673514	A A	ACATATAG others(281): Show ACATATAGAATATATATGTATATCCTGTATGTATATACATATAGAATATA TATGTATATCCTGTATGTATATACATATAGAATATATATGTATATCCTGT ATGTATATGCATATAGAATATATATGTATATCCTGTATGTATATGCATAT AGAATATATATGTATATCCTGTATGTATATGCATATAGAATATATATGTA TATCCTGTATGTATATGCATATAGAATATATATGTATATCCTGTATGTAT ATGCATATAGAATATATATGTATATCCTGTATGTATATG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01243.hp2 HG01496.hp1 others(6): Show HG01168.hp1 HG01243.hp2 HG01496.hp1 HG02647.hp1 HG02896.hp2 HG03041.hp2 NA18906.hp1 NA18995.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0051 others(3): Show a0001c0001 a0001c0007 a0001c0051 a0001c0056 a0001c0063 a0001c0071	a0001c0001t0003 a0001c0001t0033 a0001c0007t0003 others(4): Show a0001c0001t0003 a0001c0001t0033 a0001c0007t0003 a0001c0051t0003 a0001c0056t0002 a0001c0063t0003 a0001c0071t0003	a0001c0001t0003g0010 a0001c0001t0003g0036 a0001c0001t0003g0112 others(6): Show a0001c0001t0003g0010 a0001c0001t0003g0036 a0001c0001t0003g0112 a0001c0001t0033g0033 a0001c0007t0003g0104 a0001c0051t0003g0005 a0001c0056t0002g0014 a0001c0063t0003g0088 a0001c0071t0003g0082	9	66	0.1364	288	c.694 others(305): Show c.6943-815_6943-814insACATATAGAATATATATGTATATCCTGT ATGTATATACATATAGAATATATATGTATATCCTGTATGTATATGCATAT AGAATATATATGTATATCCTGTATGTATATGCATATAGAATATATATGTA TATCCTGTATGTATATGCATATAGAATATATATGTATATCCTGTATGTAT ATGCATATAGAATATATATGTATATCCTGTATGTATATGCATATAGAATA TATATGTATATCCTGTATGTATATGCATATAGAATATATATGTATATCCT GTATGTATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	48/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124673514	A A	ACATATAG others(281): Show ACATATAGAATATATATGTATATCCTGTATGTATATACATATAGAATATA TATGTATATCCTGTATGTATATGCATATAGAATATATATGTATATCCTGT ATGTATATGCATATAGAATATATATGTATATCCTGTATGTATATGCATAT AGAATATATATGTATATCCTGTATGTATATGCATATAGAATATATATGTA TATCCTGTATGTATATGCATATAGAATATATATGTATATCCTGTATGTAT ATGCATATAGAATATATATGTATATCCTGTATGTATATG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0018 a0001c0007t0002g0018	1	58	0.0172	288	c.694 others(305): Show c.6943-815_6943-814insACATATAGAATATATATGTATATCCTGT ATGTATATGCATATAGAATATATATGTATATCCTGTATGTATATGCATAT AGAATATATATGTATATCCTGTATGTATATGCATATAGAATATATATGTA TATCCTGTATGTATATGCATATAGAATATATATGTATATCCTGTATGTAT ATGCATATAGAATATATATGTATATCCTGTATGTATATGCATATAGAATA TATATGTATATCCTGTATGTATATGCATATAGAATATATATGTATATCCT GTATGTATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	48/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAZN_chr1_14593685_15123043	14933567	A A	ATCCAGGT others(281): Show ATCCAGGTATCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02965.hp2 HG03209.hp1 others(2): Show HG01891.hp1 HG02965.hp2 HG03209.hp1 HG06807.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0013 others(1): Show a0001c0001 a0001c0003 a0001c0013 a0002c0002	a0001c0001t0003 a0001c0001t0031 a0001c0003t0004 others(2): Show a0001c0001t0003 a0001c0001t0031 a0001c0003t0004 a0001c0013t0021 a0002c0002t0001	a0001c0001t0003g0050 a0001c0001t0031g0049 a0001c0003t0004g0141 others(2): Show a0001c0001t0003g0050 a0001c0001t0031g0049 a0001c0003t0004g0141 a0001c0013t0021g0051 a0002c0002t0001g0124	5	145	0.0345	288	c.227 others(307): Show c.227-27102_227-27101insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTCC AGGTATCTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNMB4_chr12_70361290_70439292	70395138	T T	TCCAGTAG others(281): Show TCCAGTAGATAATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	340	0.0029	288	c.337 others(305): Show c.337-5054_337-5053insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCCAGTAG ATAATGTTTT	KCNMB4	ENSG00000135643.5	transcript	ENST00000258111.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
KIAA0930_chr22_45187244_45245894	45229320	T T	TCCCCACC others(281): Show TCCCCACCACCACTCACCTGAAAGATCCCTCTCCACCCCCCCACCACTAA ACACTCACCCGAAAGATCCCTCTCCATGCCCCCCCACCACCAAACACTCA CCTGAAAGATCCCTCTCCACCCCCCCACCACTAAACACTCACCCGAAAGA TCCCTCTCCATGCCCCCCCACCACCAAACACTCACCTGAAAGATCCCTCT CCACCCCCCCACCACCAAACACTCACCTGAAAGATCCCTCTCCACCCCCC CACCACCAAACACTCACCTGAAAGATCCCTCTCCACCCC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA19090.hp1 NA18967.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0141 a0001c0001t0004g0140 a0001c0001t0001g0141 a0001c0001t0004g0140	2	53	0.0377	288	c.64+ others(305): Show c.64+11319_64+11320insGGGGTGGAGAGGGATCTTTCAGGTGAGT GTTTGGTGGTGGGGGGGTGGAGAGGGATCTTTCAGGTGAGTGTTTGGTGG TGGGGGGGTGGAGAGGGATCTTTCAGGTGAGTGTTTGGTGGTGGGGGGGC ATGGAGAGGGATCTTTCGGGTGAGTGTTTAGTGGTGGGGGGGTGGAGAGG GATCTTTCAGGTGAGTGTTTGGTGGTGGGGGGGCATGGAGAGGGATCTTT CGGGTGAGTGTTTAGTGGTGGGGGGGTGGAGAGGGATCTTTCAGGTGAGT GGTGGTGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA1549_chr7_138826381_138986389	138878761	C C	CAAAAAAA others(281): Show CAAAAAAAAATATTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATTCCGCCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG04115.hp2 NA20905.hp1 HG03942.hp1 HG04115.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0002c0052 a0001c0010 a0002c0052	a0001c0010t0002 a0001c0010t0009 a0002c0052t0002 a0001c0010t0002 a0001c0010t0009 a0002c0052t0002	a0001c0010t0002g0097 a0001c0010t0009g0105 a0002c0052t0002g0192 a0001c0010t0002g0097 a0001c0010t0009g0105 a0002c0052t0002g0192	3	190	0.0158	288	c.434 others(305): Show c.4345+776_4345+777insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGGCG GAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGG GATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAT ATTTTTTTTT	KIAA1549	ENSG00000122778.10	transcript	ENST00000422774.2	protein_coding	12/19			chr7	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(281): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGG CGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGA ACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGC GCTGCGAGGCGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCG CTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0010 a0008c0012t0010	a0008c0012t0010g0258 a0008c0012t0010g0258	1	60	0.0167	288	c.317 others(305): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGGCGGGAACGG CGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCT GCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGG GGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGAGGCGGG GGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGG GCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF26B_chr1_245149985_245714432	245600127	T T	TTCCCGGG others(281): Show TTCCCGGGTTCAACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT TACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAGTATAGAG GGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCCCGACCTCAGATG ATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAGGCTATTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGG AGCGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0003 a0003	a0003c0056 a0003c0056	a0003c0056t0034 a0003c0056t0034	a0003c0056t0034g0143 a0003c0056t0034g0143	1	76	0.0132	288	c.135 others(307): Show c.1351-2439_1351-2438insACCGATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATT TTTAGTATAGAGGGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCC CGACCTCAGATGATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAG GCTATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGT CGCCCAGGCTGGAGCGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGC CTCCCGGGTTCA	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KLHDC4_chr16_87702812_87770986	87726186	A A	ACCCGTCT others(281): Show ACCCGTCTCCCCACCCCGCGCCTCGCCCGTCTCCCCACCCCGCGCCTCGC CCGTCTCCCCACCCCGCGCCTCGCCCGTCTCCCCACGCCGCGCCTCGCCC GTCTCCCCACGCCGCGCCTCGCCCGTCTCCCCACGCCGCGCCTCGCCCGT CTCCCCACCCCGCGCCTCGCCCGTCTCCCCACCCCGCGCCTCGCCCGTCT CCCCACGCCGCGCCTCGCCCGTCTCCCCACGCCGCGCCTCGCCCGTCTCC CCACCCCGCGCCTCGCCCGTCTCCCCACCCCGCGCCTCG	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	377	0.0027	288	c.759 others(303): Show c.759+578_759+579insCGAGGCGCGGGGTGGGGAGACGGGCGAGGC GCGGGGTGGGGAGACGGGCGAGGCGCGGCGTGGGGAGACGGGCGAGGCGC GGCGTGGGGAGACGGGCGAGGCGCGGGGTGGGGAGACGGGCGAGGCGCGG GGTGGGGAGACGGGCGAGGCGCGGCGTGGGGAGACGGGCGAGGCGCGGCG TGGGGAGACGGGCGAGGCGCGGCGTGGGGAGACGGGCGAGGCGCGGGGTG GGGAGACGGGCGAGGCGCGGGGTGGGGAGACGGGCGAGGCGCGGGGTGGG GAGACGGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	7/11			chr16	TogoVar

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