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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GPR158_chr10_25170001_25607229	25198985	T T	TAAAATAT others(312): Show TAAAATATTTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAG CCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0132 a0001c0001t0004g0132	1	162	0.0062	319	c.903 others(338): Show c.903-22056_903-22055insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAATATTTCT		GPR158	ENSG00000151025.11	transcript	ENST00000376351.4	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
GPR160_chr3_170032995_170090392	170081258	T T	TAAGACCA others(312): Show TAAGACCAATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACACAGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCC GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18981.hp1 NA18981.hp2 HG02027.hp1 NA18981.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0004g0227 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0004g0227	3	356	0.0084	319	c.-69 others(336): Show c.-69+1372_-69+1373insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAAATACAA AAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACGCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACCAATGG		GPR160	ENSG00000173890.17	transcript	ENST00000355897.10	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
GRM7_chr3_6856115_7746533	7572895	C C	CGGGCGTG others(312): Show CGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC AGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGA AACCCCGTCTCTACTGAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGG CACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAG CCTGGGCAAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0002 a0002c0006t0001g0002	1	80	0.0125	319	c.151 others(338): Show c.1516-5527_1516-5526insGGGCGTGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTGAAAATACAAAA AATTAGCCGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCA GAGATCGCGCCACTGCACTCCAGCCTGGGCAAAAGAGCGAGACTCTGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	7/9						chr3	TogoVar
GRM8_chr7_126433598_127257941	127230160	T T	TAAGAGGG others(312): Show TAAGAGGGTACAGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAAGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03491.hp1 HG02559.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0102 a0001c0001t0007g0107 a0001c0001t0002g0102 a0001c0001t0007g0107	2	108	0.0185	319	c.510 others(338): Show c.510+12534_510+12535insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCTTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCTGCTGTACCCTCTT		GRM8	ENSG00000179603.19	transcript	ENST00000339582.7	protein_coding	2/10						chr7	TogoVar
GSE1_chr16_85608322_85681200	85653201	C C	CCCTCCCC others(312): Show CCCTCCCCCTCCTCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCCACTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCCCT CCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTC CCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCCCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCT CCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCC TCCTCCTCCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0203 a0001c0002t0026g0203	1	290	0.0035	319	c.427 others(336): Show c.427-1072_427-1071insCCCTCCTCCCTCCTCCTCCCCCCTCCTC CTCCCCCCTCCCACTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCC CCCCCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCCCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCC TCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCC TCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCC		GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85653214	T T	TCCTCCCC others(312): Show TCCTCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCC CCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCC TCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCC CCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCC CCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCCCC CTCCTCCTCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCCTCCTCCTCCC CCCTCCTCCTCCTCCTCCCC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0019 a0006c0011t0019	a0006c0011t0019g0282 a0006c0011t0019g0282	1	290	0.0035	319	c.427 others(336): Show c.427-1062_427-1061insTCCCCCCTCCTCCTCCCCCCCTCCTCCC CCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCT CCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCT CCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCC TCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCTCCTCCCCCTCC TCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCC		GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
GSN_chr9_121263162_121337842	121277653	T T	TAAAATAC others(312): Show TAAAATACTTTGCTGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02071.hp2 HG02083.hp2 HG00438.hp2 HG02071.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0013 a0002c0002t0002g0075 a0002c0002t0002g0013 a0002c0002t0002g0075	3	322	0.0093	319	c.-10 others(338): Show c.-102-3801_-102-3800insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATACTTTGCTGCT		GSN	ENSG00000148180.22	transcript	ENST00000432226.7	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr9	TogoVar
GULP1_chr2_188286874_188600926	188298290	T T	TCTCACGC others(312): Show TCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCAT GAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCG GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18979.hp1 HG02080.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0101 a0001c0001t0001g0102	2	162	0.0124	319	c.-17 others(338): Show c.-172+6124_-172+6125insCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		GULP1	ENSG00000144366.17	transcript	ENST00000409830.6	protein_coding	1/11						chr2	TogoVar
HAAO_chr2_42762089_42797583	42796927	G G	GCATTTTT others(312): Show GCATTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GGCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAC TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01981.hp2 HG02148.hp1 others(2): Show HG00639.hp2 HG01981.hp2 HG02148.hp1 HG03669.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 a0001c0001t0001 a0001c0001t0002 a0001c0009t0001	a0001c0001t0001g0020 a0001c0001t0001g0362 a0001c0001t0001g0375 others(2): Show a0001c0001t0001g0020 a0001c0001t0001g0362 a0001c0001t0001g0375 a0001c0001t0002g0366 a0001c0009t0001g0379	5	410	0.0122	319	c.-43 others(330): Show c.-4392_-4391insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGCCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCGCTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAATG		HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding					4345		chr2	TogoVar
HACL1_chr3_15555699_15606569	15597657	T T	TGGATCAT others(312): Show TGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGC CGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01099.hp2 HG01433.hp1 others(10): Show HG00408.hp1 HG01099.hp2 HG01433.hp1 HG01934.hp2 HG02132.hp1 HG03704.hp1 NA18965.hp2 NA18971.hp2 NA18977.hp2 NA18983.hp1 NA19064.hp2 NA19076.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0112 a0001c0001t0001g0113 others(10): Show a0001c0001t0001g0052 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0186	13	428	0.0304	319	c.187 others(336): Show c.187-1234_187-1233insGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAACAAAGATTATGATCC		HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	2/16						chr3	TogoVar
HDHD2_chr18_47102410_47155500	47115505	C C	CAAAGAAC others(312): Show CAAAGAACTGCTGGGAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	366	0.0027	319	c.396 others(334): Show c.396-158_396-157insTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCAATTCCCAGCAGTTCTTT		HDHD2	ENSG00000167220.12	transcript	ENST00000300605.11	protein_coding	4/6						chr18	TogoVar
HDLBP_chr2_241222291_241320672	241264041	T T	TAAGAAAG others(312): Show TAAGAAAGAACAGCGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0042 a0001c0001t0019g0042	1	354	0.0028	319	c.234 others(334): Show c.234+406_234+407insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCGCTGTTCTTTCTT		HDLBP	ENSG00000115677.18	transcript	ENST00000310931.10	protein_coding	4/27						chr2	TogoVar
HLA-DQB1_chr6_32654467_32671657	32663911	T T	TGCCGGCC others(312): Show TGCCGGCCGGGCACTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCATGAGGTCAGGAGATCCAGACCATCCTGGCTAAC ACGGTGAAACCCCGCCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTG GTGGCACGCGCCTGTAATCCCACCTACTCAGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCGCCACTG CACTCCGGCCTGGGCGACAGAGTGAGAATCCGTCTCAAAAAAAAAAAAAA AAAAAGAAAAGAAATTTAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0017 a0017	a0017c0016 a0017c0016	a0017c0016t0008 a0017c0016t0008	a0017c0016t0008g0052 a0017c0016t0008g0052	1	402	0.0025	319	c.379 others(334): Show c.379+886_379+887insTTTAAATTTCTTTTCTTTTTTTTTTTTTTT TTTTGAGACGGATTCTCACTCTGTCGCCCAGGCCGGAGTGCAGTGGCGCG ATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCTGAGTAGGTGGGATTACAGGCGCGTGCCACCACGCCCGGC TAATTTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCGTGTTAGCCAGG ATGGTCTGGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGTGTGAGCCACAGTGCCCGGCCGGC		HLA-DQB1	ENSG00000179344.17	transcript	ENST00000434651.7	protein_coding	2/4						chr6	TogoVar
HNRNPDL_chr4_82417569_82435462	82419529	T T	TAAAGATT others(312): Show TAAAGATTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp2 HG02738.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	348	0.0058	319	c.53 others(330): Show c.5376_*5377insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCAGTAATCTTT		HNRNPDL	ENSG00000152795.18	transcript	ENST00000295470.10	protein_coding					3039		chr4	TogoVar
HPD_chr12_121834527_121863859	121861558	T T	TGATAGTT others(312): Show TGATAGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0048 a0001c0013t0001g0048	1	406	0.0025	319	c.-27 others(330): Show c.-2736_-2735insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATC		HPD	ENSG00000158104.11	transcript	ENST00000289004.8	protein_coding					2700		chr12	TogoVar
HRH1_chr3_11149493_11268557	11162479	G G	GAAAAGAA others(312): Show GAAAAGAACTACTGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02071.hp1 HG02257.hp1 others(5): Show HG01175.hp1 HG02071.hp1 HG02257.hp1 HG03209.hp2 HG03471.hp1 NA18971.hp1 NA19030.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0004t0009	a0001c0001t0001g0047 a0001c0001t0001g0108 a0001c0001t0002g0102 others(5): Show a0001c0001t0001g0047 a0001c0001t0001g0108 a0001c0001t0002g0102 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0005g0048 a0001c0001t0005g0109 a0001c0004t0009g0105	8	352	0.0227	319	c.-36 others(336): Show c.-36+7932_-36+7933insCTACTGTCGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCGGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAA		HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH1_chr3_11149493_11268557	11162479	G G	GAAAAGAA others(312): Show GAAAAGAACTACTGTCGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03710.hp2 NA18943.hp2 HG01358.hp1 HG03710.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0067 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0001g0067 a0001c0001t0002g0065 a0001c0001t0002g0066	3	352	0.0085	319	c.-36 others(336): Show c.-36+7932_-36+7933insCTACTGTCGGCCGGGTGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCGGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCT GCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAA		HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr3	TogoVar
HS3ST2_chr16_22809162_22921338	22834677	T T	TAAAAAGT others(312): Show TAAAAAGTATCCATTTTTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAAAATTAGCCGGGCGTAGTGGCGGACGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGTGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02818.hp2 HG02886.hp2 others(1): Show HG01934.hp1 HG02818.hp2 HG02886.hp2 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0020 a0001c0003t0003g0033 a0001c0003t0003g0034 others(1): Show a0001c0003t0003g0020 a0001c0003t0003g0033 a0001c0003t0003g0034 a0001c0003t0003g0035	4	350	0.0114	319	c.485 others(338): Show c.485+19601_485+19602insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAAATTAGCCGGGCGTAGTGGCGGACGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGTGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAGTATCCATTTTTTG		HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST5_chr6_114050596_114348023	114227233	T T	TAAGATAT others(312): Show TAAGATATACTTCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00639.hp1 others(35): Show HG00099.hp2 HG00544.hp1 HG00639.hp1 HG00738.hp2 HG01109.hp1 HG01168.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01516.hp1 HG01884.hp1 HG02004.hp2 HG02109.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03041.hp1 HG03130.hp2 HG03453.hp2 HG03710.hp1 HG04199.hp1 HG04228.hp2 NA18747.hp2 NA18969.hp2 NA18971.hp1 NA18975.hp1 NA18977.hp2 NA19007.hp2 NA19086.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0021 a0001c0001t0024 a0001c0001t0029 a0001c0001t0032 a0001c0001t0040 a0001c0002t0001	a0001c0001t0001g0170 a0001c0001t0002g0102 a0001c0001t0002g0108 others(35): Show a0001c0001t0001g0170 a0001c0001t0002g0102 a0001c0001t0002g0108 a0001c0001t0002g0135 a0001c0001t0002g0155 a0001c0001t0002g0191 a0001c0001t0003g0145 a0001c0001t0003g0151 a0001c0001t0004g0091 a0001c0001t0004g0112 a0001c0001t0004g0137 a0001c0001t0004g0157 a0001c0001t0004g0165 a0001c0001t0004g0171 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0186 a0001c0001t0005g0064 a0001c0001t0005g0072 a0001c0001t0005g0084 a0001c0001t0006g0010 a0001c0001t0006g0017 a0001c0001t0006g0022 a0001c0001t0007g0050 a0001c0001t0007g0052 a0001c0001t0009g0012 a0001c0001t0009g0013 a0001c0001t0009g0014 a0001c0001t0009g0024 a0001c0001t0014g0034 a0001c0001t0014g0035 a0001c0001t0021g0049 a0001c0001t0024g0002 a0001c0001t0029g0043 a0001c0001t0032g0079 a0001c0001t0040g0200 a0001c0002t0001g0106 a0001c0002t0001g0134	38	206	0.1845	319	c.-14 others(338): Show c.-145+1351_-145+1352insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGCCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCAAGAAGTATATCTT		HS3ST5	ENSG00000249853.9	transcript	ENST00000312719.10	protein_coding	2/4						chr6	TogoVar
HSD17B7_chr1_162785702_162817823	162791518	G G	GCATTTGG others(312): Show GCATTTGGCATTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCGGGGATTACAGGCG TGAGCCACCGCGCCCGGCCA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00438.hp2 others(46): Show HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp2 HG01123.hp2 HG01175.hp2 HG01358.hp2 HG01361.hp1 HG01884.hp2 HG01943.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02683.hp1 HG02738.hp1 HG02738.hp2 HG03579.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp2 NA18943.hp2 NA18945.hp2 NA18950.hp1 NA18967.hp1 NA18972.hp1 NA18981.hp1 NA18985.hp1 NA18988.hp2 NA18989.hp2 NA19009.hp2 NA19030.hp2 NA19079.hp1 NA19079.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0002t0008	a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0001g0057 others(26): Show a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0006g0056 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0055 a0001c0002t0001g0169 a0001c0002t0001g0177 a0001c0002t0008g0055	49	420	0.1167	319	c.35+ others(332): Show c.35+697_35+698insTTTTTTTTTTTTTTTTTTTTTGGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCGGGGATTACAG GCGTGAGCCACCGCGCCCGGCCACATTTGGCATTTTT		HSD17B7	ENSG00000132196.16	transcript	ENST00000254521.8	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
HTR2C_chrX_114579086_114915061	114761990	C C	CATATATG others(312): Show CATATATGTGTATATATACGTGTATATATACACATATGTGTATATATACG TGTATATATACACATATGTGTATATATACGTGTATATATACACATATGTG TATATATACGTGTATATATACACATATGTGTATATATACGTGTATATATA CATATATGTGTATATATACGTGTATATATACATATATGTGTATATATACG TGTATATATACATATATGTGTATATATACGTGTATATATACATATATGTG TATATATACGTGTATATATACATATGTGTATATATACGTGTATATATACA TATATGTGTATATATACGTG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	176	0.0057	319	c.349 others(338): Show c.349+30383_349+30384insATATATGTGTATATATACGTGTATAT ATACACATATGTGTATATATACGTGTATATATACACATATGTGTATATAT ACGTGTATATATACACATATGTGTATATATACGTGTATATATACACATAT GTGTATATATACGTGTATATATACATATATGTGTATATATACGTGTATAT ATACATATATGTGTATATATACGTGTATATATACATATATGTGTATATAT ACGTGTATATATACATATATGTGTATATATACGTGTATATATACATATGT GTATATATACGTGTATATATACATATATGTGTATATATACGTG		HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5						chrX	TogoVar
HTR2C_chrX_114579086_114915061	114761990	C C	CATATATG others(312): Show CATATATGTGTATATATACGTGTATATATACACATATGTGTATATATACG TGTATATATACATATATGTGTATATATACGTGTATATATACACATATGTG TATATATACGTGTATATATACACATATGTGTATATATACGTGTATATATA CACATATGTGTATATATACGTGTATATATACATATATGTGTATATATACG TGTATATATACATATATGTGTATATATACGTGTATATATACATATATGTG TATATATACGTGTATATATACATATATGTGTATATATACGTGTATATATA CATATGTGTATATATACGTG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	176	0.0057	319	c.349 others(338): Show c.349+30383_349+30384insATATATGTGTATATATACGTGTATAT ATACACATATGTGTATATATACGTGTATATATACATATATGTGTATATAT ACGTGTATATATACACATATGTGTATATATACGTGTATATATACACATAT GTGTATATATACGTGTATATATACACATATGTGTATATATACGTGTATAT ATACATATATGTGTATATATACGTGTATATATACATATATGTGTATATAT ACGTGTATATATACATATATGTGTATATATACGTGTATATATACATATAT GTGTATATATACGTGTATATATACATATGTGTATATATACGTG		HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5						chrX	TogoVar
HTR2C_chrX_114579086_114915061	114761990	C C	CATATATG others(312): Show CATATATGTGTATATATACGTGTATATATACATATATGTGTATATATACG TGTATATATACACATATGTGTATATATACGTGTATATATACATATATGTG TATATATACGTGTATATATACATATATGTGTATATATACGTGTATATATA CATATATGTGTATATATACGTGTATATATACATATATGTGTATATATACG TGTATATATACATATATGTGTATATATACGTGTATATATACATATATGTG TATATATACGTGTATATATACATATATGTGTATATATACGTGTATATATA CATATGTGTATATATACGTG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	176	0.0057	319	c.349 others(338): Show c.349+30383_349+30384insATATATGTGTATATATACGTGTATAT ATACATATATGTGTATATATACGTGTATATATACACATATGTGTATATAT ACGTGTATATATACATATATGTGTATATATACGTGTATATATACATATAT GTGTATATATACGTGTATATATACATATATGTGTATATATACGTGTATAT ATACATATATGTGTATATATACGTGTATATATACATATATGTGTATATAT ACGTGTATATATACATATATGTGTATATATACGTGTATATATACATATAT GTGTATATATACGTGTATATATACATATGTGTATATATACGTG		HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5						chrX	TogoVar
HTR2C_chrX_114579086_114915061	114761990	C C	CATATATG others(312): Show CATATATGTGTATATATACGTGTATATATACATATATGTGTATATATACG TGTATATATACATATATGTGTATATATACGTGTATATATACATATATGTG TATATATACGTGTATATATACATATATGTGTATATATACGTGTATATATA CATATATGTGTATATATACGTGTATATATACATATATGTGTATATATACG TGTATATATACATATATGTGTATATATACGTGTATATATACATATATGTG TATATATACGTGTATATATACATATATGTGTATATATACGTGTATATATA CATATGTGTATATATACGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02895.hp1 HG02897.hp1 others(3): Show HG02145.hp1 HG02895.hp1 HG02897.hp1 HG03490.hp1 HG04228.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0095 others(3): Show a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0095 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0171	6	176	0.0341	319	c.349 others(338): Show c.349+30383_349+30384insATATATGTGTATATATACGTGTATAT ATACATATATGTGTATATATACGTGTATATATACATATATGTGTATATAT ACGTGTATATATACATATATGTGTATATATACGTGTATATATACATATAT GTGTATATATACGTGTATATATACATATATGTGTATATATACGTGTATAT ATACATATATGTGTATATATACGTGTATATATACATATATGTGTATATAT ACGTGTATATATACATATATGTGTATATATACGTGTATATATACATATAT GTGTATATATACGTGTATATATACATATGTGTATATATACGTG		HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5						chrX	TogoVar
HTR5A_chr7_155065324_155092392	155066496	A A	AGTAACAT others(312): Show AGTAACATAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01123.hp2 HG01167.hp2 others(25): Show HG00140.hp2 HG01123.hp2 HG01167.hp2 HG01192.hp2 HG01496.hp2 HG02165.hp1 HG02273.hp1 HG03041.hp1 HG03688.hp2 HG03704.hp1 HG04115.hp2 HG06807.hp1 NA18747.hp2 NA18942.hp2 NA18943.hp2 NA18948.hp1 NA18954.hp2 NA18969.hp2 NA18986.hp2 NA19012.hp1 NA19030.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp2 NA19065.hp2 NA19072.hp2 NA19082.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0007 a0001c0001 a0001c0002 a0004c0007	a0001c0001t0003 a0001c0001t0007 a0001c0001t0014 others(5): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0014 a0001c0001t0018 a0001c0001t0036 a0001c0001t0052 a0001c0002t0001 a0004c0007t0001	a0001c0001t0003g0001 a0001c0001t0003g0025 a0001c0001t0003g0092 others(13): Show a0001c0001t0003g0001 a0001c0001t0003g0025 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0104 a0001c0001t0007g0024 a0001c0001t0007g0078 a0001c0001t0007g0080 a0001c0001t0007g0082 a0001c0001t0007g0085 a0001c0001t0014g0090 a0001c0001t0018g0035 a0001c0001t0036g0019 a0001c0001t0052g0117 a0001c0002t0001g0009 a0004c0007t0001g0001	28	430	0.0651	319	c.-44 others(330): Show c.-4404_-4403insGTAACATAAGCTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCA ATCTCGGCTCACTGCAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC		HTR5A	ENSG00000157219.5	transcript	ENST00000287907.3	protein_coding					3827		chr7	TogoVar
IBSP_chr4_87794554_87817435	87807395	T T	TAAAAGTA others(312): Show TAAAAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGG CGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0045 a0006c0006t0001g0045	1	454	0.0022	319	c.246 others(336): Show c.246+1218_246+1219insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTA		IBSP	ENSG00000029559.7	transcript	ENST00000226284.7	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr4	TogoVar
IDE_chr10_92446684_92579093	92524325	T T	TATTATAT others(312): Show TATTATATTATATATAATATATTTTATATAATATATAATATATATTATAT TATATATAATATATTTTATATAATATATAATATATATTATATTATATATA ATATATTTTATATAATATATATTATATTATATATAATATATTTTATATAA TATATAATATATATTATATTATATATAATATATTTTATATAATATATAAT ATATATTATATTATATATAATATATTTTATATAATATATAATATATATTA TATTATATATAATATATTTTATATAATATATAATATATATTATATTATAT ATAATATATTTTATATAATA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	314	0.0032	319	c.661 others(336): Show c.661+7422_661+7423insTATTATATAAAATATATTATATATAATA TAATATATATTATATATTATATAAAATATATTATATATAATATAATATAT ATTATATATTATATAAAATATATTATATATAATATAATATATATTATATA TTATATAAAATATATTATATATAATATAATATATATTATATATTATATAA AATATATTATATATAATATAATATATATTATATAAAATATATTATATATA ATATAATATATATTATATATTATATAAAATATATTATATATAATATAATA TATATTATATATTATATAAAATATATTATATATAATATAAT		IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24						chr10	TogoVar
IFNAR1_chr21_33319970_33364864	33323498	A A	AATATATA others(312): Show AATATATATGTGGAATATATATATGTGGAATATATATGTGGAATATATAT ATGTGGAATATATATGTGGAATATATATATGTGGAATATATATGTGGAAT ATATATGTGGAATATATATGTGGAATATATATGTGGAATATATATATATG GAATATATATGTGGAATATATATATATGGAATATATATGTGGAATATATA TATATGGAATATATATGTGGAATATATATATATGGAATATATATGTGGAA TATATATATGGAATATATATATATGGAATATATATGTGGAATATATATAT ATGGAATATATATGTGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 NA19043.hp1 HG00639.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0107 a0001c0001t0001g0111	2	323	0.0062	319	c.-15 others(330): Show c.-1558_-1557insATATATATGTGGAATATATATATGTGGAATATAT ATGTGGAATATATATATGTGGAATATATATGTGGAATATATATATGTGGA ATATATATGTGGAATATATATGTGGAATATATATGTGGAATATATATGTG GAATATATATATATGGAATATATATGTGGAATATATATATATGGAATATA TATGTGGAATATATATATATGGAATATATATGTGGAATATATATATATGG AATATATATGTGGAATATATATATGGAATATATATATATGGAATATATAT GTGGAATATATATATATGGAATATATATGTGGAAT		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					1471		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33344481	T T	TCTTCTTC others(312): Show TCTTCTTCTCCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	323	0.0031	319	c.674 others(334): Show c.674-749_674-748insTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTTCTTCTCCCTTCTT		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
IFT81_chr12_110119357_110223793	110155467	T T	TGCCCAAC others(312): Show TGCCCAACTAATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03098.hp2 HG01891.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0125 a0001c0001t0001g0126	2	218	0.0092	319	c.104 others(338): Show c.1042-7436_1042-7435insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCGCCCAACTAATTTTTT		IFT81	ENSG00000122970.16	transcript	ENST00000242591.10	protein_coding	10/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
IKZF1_chr7_50299716_50410101	50405578	T T	TCCCTAGT others(312): Show TCCCTAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGACCACAGGC GTGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 NA19063.hp1 NA19080.hp1 HG00408.hp1 NA19063.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0169 a0001c0001t0005g0272 a0001c0001t0005g0273 a0001c0001t0005g0169 a0001c0001t0005g0272 a0001c0001t0005g0273	3	286	0.0105	319	c.49 others(330): Show c.4951_*4952insCCCTAGTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGACCACAGGCGTGAGCCACCGCGCCCGGCC		IKZF1	ENSG00000185811.21	transcript	ENST00000331340.8	protein_coding					478		chr7	TogoVar
IL1RAPL1_chrX_28582446_29961718	28665544	G G	GCAGTGGT others(312): Show GCAGTGGTGTGATCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGAGGTTTCACCGTTTTAGCCGGGATGGCCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG TGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	135	0.0074	319	c.-25 others(338): Show c.-25+77512_-25+77513insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTTGTATTTTTAGTAGAGACGAGGTTTCACCGTTTTAGCCGGGATGGCCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGTGTGAGCCACCGCGCCCGGCCAGTGGTGTGATCTT		IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	1/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(312): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAG GAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGGAG GAAGGGAGAAAGGGAGGAAG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	282	0.0036	319	c.290 others(338): Show c.2908-3810_2908-3809insCTTCCTCCCTTTCTCCCTTCCTCCCT CCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCCCT TCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCC TCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTT CCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCC TTCCTCCCTTTCTCCCTTCCTCCCTCCCTTCCTCCCTCCTCCCTTCCTCC CTTCCTCCCTCCTCCCTCCCTCCCTTCCTCCCTCCTCCCTTCC		INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35						chr15	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(312): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAG GAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGGAG GAAGGGAGAAAGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	282	0.0036	319	c.290 others(338): Show c.2908-3810_2908-3809insCTTCCTCCCTTTCTCCCTTCCTCCCT CCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCCCT TCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCC TCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCC TTCCTCCCTTTCTCCCTTCCTCCCTCCCTTCCTCCCTCCTCCCTTCCTCC CTTCCTCCCTCCTCCCTCCCTCCCTTCCTCCCTCCTCCCTTCC		INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35						chr15	TogoVar
INO80_chr15_40973880_41121280	41031547	G G	GAAGGGAG others(312): Show GAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGAAG GGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGGGA GGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGA GGAAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGA GGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAA AGGGAGGAAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0038 a0001c0007t0003g0038	1	282	0.0036	319	c.290 others(338): Show c.2908-3812_2908-3811insTCCTCCCTCCCTTCCTCCCTTTCTCC CTTCCTCCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCC CTTCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTC CCTTCCTCCCTTTCTCCCTTCCTCCCTCCCTTCCTCCCTCCTCCCTTCCT CCCTTCCTCCCTCCTCCCTCCCTCCCTTCCTCCCTCCTCCCTT		INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35						chr15	TogoVar
INTS10_chr8_19812416_19857067	19832076	T T	TAAGAATC others(312): Show TAAGAATCTTCCTCACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01517.hp1 HG01517.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0003 a0002c0014t0003	a0002c0014t0003g0094 a0002c0014t0003g0094	1	420	0.0024	319	c.136 others(328): Show c.1360_1361insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAGAATCTTCCTCACTG	p.Asp others(5): Show p.Asp454fs	INTS10	ENSG00000104613.12	transcript	ENST00000397977.8	protein_coding	11/17	1483/2517	1361/2133	454/710		INFO_REALIGN_3_PRIME	chr8	TogoVar
IQCH_chr15_67249786_67506804	67352556	T T	TGAAAGTT others(312): Show TGAAAGTTATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAGAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01106.hp1 HG01168.hp2 others(24): Show HG00544.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG01261.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG02071.hp2 HG04184.hp2 HG04204.hp1 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18964.hp1 NA18965.hp1 NA18970.hp2 NA18980.hp2 NA19055.hp1 NA19058.hp1 NA19063.hp1 NA19083.hp2 NA19087.hp2 NA19090.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(24): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0006g0006	27	276	0.0978	319	c.638 others(336): Show c.638-4779_638-4778insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAGAAAAAAAAAAAGAAAGTTATC		IQCH	ENSG00000103599.20	transcript	ENST00000335894.9	protein_coding	6/20					INFO_REALIGN_3_PRIME	chr15	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(312): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACTACCCTGTC CTCCTCCCCCACCCCCCCTCCCCCCCTCCTCCCCCTCCCCCCTCCTCCCC CCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCC TCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCC CACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCC CCCCTCCTCTCCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCC CTCCTCCTCCCCATTCTGCT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	252	0.0040	319	c.10- others(336): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACTACCCTGTCCTCCTCCCCCACCCCCCCTCCCCCCCTCCTCCCCCT CCCCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTC CCACCTCCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCC TCCTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCC CCTCCTCCTCTCCCCCCCTCCTCTCCCCCCCCTCCTCCCCCCTCCTCCTC CTCCTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCC		IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(312): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACTACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCT CCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCC ACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCCTCCTCCTCTCCC CCCCTCCTCTCCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCC CTCCTCCTCCCCATTCTGCT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	252	0.0040	319	c.10- others(336): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACTACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCCTCCCCATCCTCCTCC CACCTCCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCT CCTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCC CCTCCTCCTCTCCCCCCCTCCTCTCCCCCCCCTCCTCCCCCCTCCTCCTC CTCCTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCC		IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(312): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACTACCCTGTC CTCCTCCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCC CACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCT CCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCC ACCTCCTCCTCCTCCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCC CCCCTCCTCTCCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCC CTCCTCCTCCCCATTCTGCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	252	0.0040	319	c.10- others(336): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACTACCCTGTCCTCCTCCCCCCACCCCCCTCCCCCCTCCTCCCCCTC CCCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCC CACCTCCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCT CCTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCCTCCTCGTCCTCCTCCC CCTCCTCCTCTCCCCCCCTCCTCTCCCCCCCCTCCTCCCCCCTCCTCCTC CTCCTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCC		IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(312): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACTACCCTGTC CTCCTCCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCC CACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCT CCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCC ACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCC CCCTCCTCTCCCCCCCCTCCTCCCCCCCTCCTCCTCCTCCTGCTCTCCCC CTCCTCCTCCCCATTCTGCT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	252	0.0040	319	c.10- others(336): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACTACCCTGTCCTCCTCCCCCCACCCCCCTCCCCCCTCCTCCCCCTC CCCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCC CACCTCCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCT CCTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCC CTCCTCCTCTCCCCCCCTCCTCTCCCCCCCCTCCTCCCCCCCTCCTCCTC CTCCTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCC		IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(312): Show CCTCCTCCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACTACCCTGT CCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCC CACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCT CCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCC ACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCC CCCTCCTCTCCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCC CTCCTCCTCCCCATTCTGCT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	252	0.0040	319	c.10- others(336): Show c.10-16129_10-16128insCCCCCACCCACCCCTCCCCTCTCCTCCC CCCAACTACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTC CCCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCC CACCTCCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCT CCTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCC CTCCTCCTCTCCCCCCCTCCTCTCCCCCCCCTCCTCCCCCCTCCTCCTCC TCCTGCTCTCCCCCCTCCTCCTCCCCATTCTGCTCTCCTCC		IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(312): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGT GGAATTCGGTGGGGAGGCAGGGCTCAGGGGGGGGGCGGGGCTCGGGAGGG GAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGC GGGGCTCGGGGGGAGGCGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01516.hp2 HG02572.hp1 others(2): Show HG01243.hp1 HG01516.hp2 HG02572.hp1 HG02922.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0035 a0002c0001t0004 a0002c0001t0022 a0001c0004t0035 a0002c0001t0004 a0002c0001t0022	a0001c0004t0035g0030 a0002c0001t0004g0027 a0002c0001t0004g0028 others(2): Show a0001c0004t0035g0030 a0002c0001t0004g0027 a0002c0001t0004g0028 a0002c0001t0004g0029 a0002c0001t0022g0038	5	282	0.0177	319	c.623 others(336): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGG CTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGCTCAGGAGGGAGAGGTGGAATTCGGTGGGGAGGCAGGGCTCAGGGGG GGGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGC GGGGCTCTGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGGGG		IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr12	TogoVar
IQUB_chr7_123447193_123539595	123511670	T T	TTTAAAAC others(312): Show TTTAAAACCTACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAG TGGCGCAATCTCGGCTCACTGCAGGCTCCGCCTCCTGGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCGCCACCT CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCT CCCAAAGTGCTGGGATTACA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	370	0.0027	319	c.397 others(334): Show c.397+273_397+274insTGTAATCCCAGCACTTTGGGAGGCCGAGGC GGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGG CGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCCAGGAGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCA GCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAGAAAGTAGGTTTTAA		IQUB	ENSG00000164675.11	transcript	ENST00000324698.11	protein_coding	2/12						chr7	TogoVar
IRAG1_chr11_10568095_10698755	10615935	T T	TAAAAAAA others(312): Show TAAAAAAAAGTAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01243.hp1 HG01928.hp2 others(8): Show HG00140.hp1 HG01243.hp1 HG01928.hp2 HG02027.hp2 HG02615.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp2 NA18978.hp1 NA18989.hp1 NA19000.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0023	a0001c0002 a0002c0006 a0005c0044 others(1): Show a0001c0002 a0002c0006 a0005c0044 a0023c0034	a0001c0002t0002 a0002c0006t0002 a0002c0006t0004 others(2): Show a0001c0002t0002 a0002c0006t0002 a0002c0006t0004 a0005c0044t0004 a0023c0034t0002	a0001c0002t0002g0174 a0001c0002t0002g0198 a0001c0002t0002g0206 others(8): Show a0001c0002t0002g0174 a0001c0002t0002g0198 a0001c0002t0002g0206 a0001c0002t0002g0214 a0001c0002t0002g0255 a0001c0002t0002g0256 a0002c0006t0002g0057 a0002c0006t0002g0061 a0002c0006t0004g0072 a0005c0044t0004g0225 a0023c0034t0002g0257	11	278	0.0396	319	c.144 others(338): Show c.1448-6085_1448-6084insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCTTACTTTTTTTT		IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	10/20						chr11	TogoVar
IRAK2_chr3_10159919_10248745	10208462	T T	TAAAAAAA others(312): Show TAAAAAAAAATCTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03139.hp1 HG03579.hp2 others(2): Show HG02818.hp1 HG03139.hp1 HG03579.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0125 a0001c0001t0002g0156 others(2): Show a0001c0001t0002g0063 a0001c0001t0002g0125 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0160	5	292	0.0171	319	c.425 others(336): Show c.425-1115_425-1114insGGGCTGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATCT		IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr3	TogoVar
ITFG1_chr16_47149391_47466063	47428960	T T	TAAAAATC others(312): Show TAAAAATCTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	110	0.0091	319	c.561 others(332): Show c.561-63_561-62insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGCAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCCAGAGATTTTT		ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	5/17						chr16	TogoVar
ITGA6_chr2_172422586_172511459	172451994	T T	TCCTCCCT others(312): Show TCCTCCCTTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02818.hp1 NA18522.hp2 HG00735.hp2 HG02818.hp1 NA18522.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0086 a0002c0005t0003g0255 a0002c0005t0003g0267 a0002c0005t0003g0086 a0002c0005t0003g0255 a0002c0005t0003g0267	3	352	0.0085	319	c.183 others(338): Show c.183-13530_183-13529insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCCTCCCTTCATTTTT		ITGA6	ENSG00000091409.16	transcript	ENST00000442250.6	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGA6_chr2_172422586_172511459	172451994	T T	TCCTCCCT others(312): Show TCCTCCCTTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACTGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0025 a0004c0012t0025	a0004c0012t0025g0057 a0004c0012t0025g0057	1	352	0.0028	319	c.183 others(338): Show c.183-13530_183-13529insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACTGCGCCCGGCCCTCCCTTCATTTTT		ITGA6	ENSG00000091409.16	transcript	ENST00000442250.6	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
JAK1_chr1_64828229_64971549	64881262	T T	TAAAAAAT others(312): Show TAAAAAATATTAAAATTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTG AGATCGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18747.hp1 NA18949.hp2 HG00609.hp2 NA18747.hp1 NA18949.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0039 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0039	3	326	0.0092	319	c.205 others(336): Show c.205+2014_205+2015insTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCGATCTCAGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCAAAATTTTAATATTTTTT		JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	3/24						chr1	TogoVar

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