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
GNG13_chr16_793041_805734	795580	G G	GCCCTTCT others(408): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCGTGCTGCCCGTGTGGCTGC CCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCCG TGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCG CCCCTCCCCTCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	243	0.0041	415	c.31 others(426): Show c.3138_*3139insGGGGGGAGGGGAGGGGCGGGGCGGCACGGGGCCA GGGGCACCCACACGGGCAGCACGGGGGGGGCACGGGGGAGGGGACAGCCA CACGGGCAGCATGGGGGGGGCATGGGGAGTGGGCAGCCACACGGGCAGCA CGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGG GGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGG CACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGGGCACGGGGCCGGGGG CAGCCACACGGGCAGTGTGGTTGGGGGGGGGGGGGCACGGGGCCGGGGGC AGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGGTTGGGGGAGAAGGG		GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding					2460		chr16	TogoVar
GNG13_chr16_793041_805734	795580	G G	GCCCTTCT others(408): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGCTGC CCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCCG TGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCG CCCCTCCCCTCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG03669.hp2 HG02258.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	244	0.0082	415	c.31 others(426): Show c.3138_*3139insGGGGGGAGGGGAGGGGCGGGGCGGCACGGGGCCA GGGGCACCCACACGGGCAGCACGGGGGGGGCACGGGGGAGGGGACAGCCA CACGGGCAGCATGGGGGGGGCATGGGGAGTGGGCAGCCACACGGGCAGCA CGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGG GGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGG CACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGGGCACGGGGCCGGGGG CAGCCACACGGGCAGTGTGGTTGGGGGGGGGGGGGCACGGGGCCGGGGGC AGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGGTTGGGGGAGAAGGG		GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding					2460		chr16	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGTCCC others(408): Show CCTGTCCCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCCTCCTGGCCCCGCAT CTTCTCCTCCTGCCCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCC TCCTGGCCCCACATCTTCTCCTCCTGCCCCCACATCTTCTCCTCCTGGCC CCACATCTTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCACATCT TCTCCTCCTGCCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCCTCC TGGCCCCGCATCTTCTCCTCCTGGTCCCGCATCTTCTCCTCCTGCTCCCA TATCTTCTCCTGCTCCTGCATCTTCTCGTGTTCCCACAGCTTCTCCTTCT GTTCCGGTAGCCTCTG	frameshift_variant frameshift_variant	HIGH	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0001 a0001c0046t0001	a0001c0046t0001g0067 a0001c0046t0001g0067	1	92	0.0109	415	c.239 others(424): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAG AAGATGTGGGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGTG GGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGCGGGGGGCAG GAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAA GATGCGGGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGG GGGGCAGGAGGAGAAGATGCGGGGGACAG	p.Gly others(5): Show p.Gly800fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909			chr15	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(408): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCC TCCTTCCCCCTCCCCTCCTTCCCCCTCCTCTCCTTCCCCCTCCTCTCCTT CCCCCTCCCCTCCTTCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTGCACC TCCCCTTCCCCCCACCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCT TCCCCTCCTTCCCCCCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCT CCTTCCCCATCCTCTTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCC CCCTTCCCCTCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTCCCCTCCT TCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCCTCC TTCCCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01175.hp2 HG01952.hp1 others(2): Show HG01168.hp1 HG01175.hp2 HG01952.hp1 HG03239.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0119 a0001c0002t0003g0124 a0001c0002t0003g0125 others(2): Show a0001c0002t0003g0119 a0001c0002t0003g0124 a0001c0002t0003g0125 a0001c0002t0003g0128 a0001c0002t0003g0130	5	106	0.0472	415	c.972 others(430): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTCTCCT TCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTTCCC CTCCCCTCCTTGCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCCCCTA CCCTTCCCCCTCACCTTCCCCTCCTTCCCCCCTCCCCTTCCCCTCCTTCC CCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCCCTTC CCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCCTCCTTCCCCT TTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCC CTTCCCCCTTCCCTCCTTCCCCCTTCCCCCTCCCC		GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
GRK5_chr10_119202571_119464745	119394232	G G	GTGTGTGG others(408): Show GTGTGTGGGTGTCTGTGTGGGTGTATCTGTGTGTGTGGGCACGTGTGTGT GTGGGTGTGTGTGAGTATCCGTGTATCTATGTGTGTGTGTGTGTGTGTGT GGGGGTGTCTGCGTGTGTGGGTGTATCTGTGTGTGTGTGGGTGTGTGTAT CCATGTGTCTGTGTGTGGGTACGTGGGTGTGTGGGTGTGTGTGGGTATCT GTGTGTCTGTGTTTGTGTGTGTGTCTGTGGGTGTGTGTGGGGTATGGGTG TGTTTGTGTGGGTGGGTATGTGTCTGTGGGGGGGTATGTGTGGGTGTGGG TGTCTGGGGGTGTGTATCTGTGTGTGGGCACGTGTGTGTGGGTGTGAGTA TCCGTGTGTCTGTGTGTGGGTGTGTTTGTGAGTATCCGTGTGTGTGTGGC TATGTGGATGTGTGGA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	189	0.0053	415	c.262 others(432): Show c.262-2445_262-2444insGGTGTATCTGTGTGTGTGGGCACGTGTG TGTGTGGGTGTGTGTGAGTATCCGTGTATCTATGTGTGTGTGTGTGTGTG TGTGGGGGTGTCTGCGTGTGTGGGTGTATCTGTGTGTGTGTGGGTGTGTG TATCCATGTGTCTGTGTGTGGGTACGTGGGTGTGTGGGTGTGTGTGGGTA TCTGTGTGTCTGTGTTTGTGTGTGTGTCTGTGGGTGTGTGTGGGGTATGG GTGTGTTTGTGTGGGTGGGTATGTGTCTGTGGGGGGGTATGTGTGGGTGT GGGTGTCTGGGGGTGTGTATCTGTGTGTGGGCACGTGTGTGTGGGTGTGA GTATCCGTGTGTCTGTGTGTGGGTGTGTTTGTGAGTATCCGTGTGTGTGT GGCTATGTGGATGTGTGGATGTGTGGGTGTCTGTGTG		GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
GSE1_chr16_85608322_85681200	85653242	T T	TCCCCCCC others(408): Show TCCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCCCC CCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCCCCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCTCCTCCCCCCTCCTC CCCCCCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCCCCCTCCTCCCCCC TCCTCCCCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCC TCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCC CCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCCC CCCCCTCCTCCTCCCC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	258	0.0039	415	c.427 others(432): Show c.427-1034_427-1033insCCCCCCTCCTCCCCCCTCCTCCCCCCCC TCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCC TCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCCTCCT CCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCTCCCCCCCCTCCCC CCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCC TCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCC TCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTC CTCCCCCCTCCTCCTCCCCCCCCCTCCTCCTCCCCCC		GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
GTPBP6_chrX_299759_323796	321901	A A	AAAAAAAA others(408): Show AAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGC TCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAG CATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAAAG AAAAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGC TGAGGTGGGAGGATCGCTTGAGCCCAGGAGTTTGACACCAGCCTGGGCAA CATGGTAAGACCCCTTCTCTACCCTCCCCCCCAAAAAAAAAATTTTAGTG TGGCATGGTGGTGGGTGCCTGTGGTCCCAGCTACTCGGGACGCTGAGGTG GGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCATGGGCAATATGGTA AGACCCCATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0018 a0018	a0018c0030 a0018c0030	a0018c0030t0004 a0018c0030t0004	a0018c0030t0004g0143 a0018c0030t0004g0143	1	153	0.0065	415	c.-31 others(426): Show c.-3115_-3114insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGT AGCTGGGACCACAGGCACCCACCACCATGCCACACTAAAATTTTTTTTTT GGGGGGGAGGGTAGAGAAGGGGTCTTACCATGTTGCCCAGGCTGGTGTCA AACTCCTGGGCTCAAGCGATCCTCCCACCTCAGCGTCCCGAGCAGCTGGG ACCACAGGCACCCACCACCACGCCCGGCTTTTCTTTTTTTTTTTTTTTTT GTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGG GCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGC ACCCACCACCACGCCCGGCTTTTCTTTTTTT		GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding					3106		chrX	TogoVar
HERC6_chr4_88373852_88448097	88379918	A A	AATATATA others(408): Show AATATATATATAACATATAAATATATATAATATATAAATATATATATAAC ATATAAATATATATAATATATAAATATATATATAACATATAAATATATAT AATATATAAATATATATATAATATATAAATATATATAATATATAAATATA TATAATATATAAATATATATAATATATAAATATATATAATATATAAATAT ATATATAATATATAAATATATATATAATATATAAATATATATATAATATA TAAATATATATATAATATATAAATATATATAATATATAAATATATATATA ATATATAAATATATATATAATATATAAATATATATAATATATAAATATAT ATATAATATATAAATATATATAATATATAAATATATATAATATATAAATA TATATAATATATAAAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0073 a0006c0006t0001g0073	1	168	0.0060	415	c.199 others(430): Show c.199+807_199+808insTAACATATAAATATATATAATATATAAATA TATATATAACATATAAATATATATAATATATAAATATATATATAACATAT AAATATATATAATATATAAATATATATATAATATATAAATATATATAATA TATAAATATATATAATATATAAATATATATAATATATAAATATATATAAT ATATAAATATATATATAATATATAAATATATATATAATATATAAATATAT ATATAATATATAAATATATATATAATATATAAATATATATAATATATAAA TATATATATAATATATAAATATATATATAATATATAAATATATATAATAT ATAAATATATATATAATATATAAATATATATAATATATAAATATATATAA TATATAAATATATATAATATATAAATATATATATA		HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
HIGD1C_chr12_50947544_50975607	50948918	G G	GGAGGGGG others(408): Show GGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGG GGGGAGGGGAGGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGGAGG GGAGGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAG GGGAGGGGGGAGGGGGATGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGG AGGGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGGGGAGGGGAGGGGGG AGGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0110	1	185	0.0054	415	c.-38 others(426): Show c.-3861_-3860insGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGG GAGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGG GGAGGGGAGGGGAGGGGGGAGGGGAGGGGGGGAGGGGAGGGGGAGGGGGG AGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGATGGGGAGGGGAGGGGGAG GGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGG GGGAGGGGAGGGGGGAGGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGA		HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding					3625		chr12	TogoVar
KDM4B_chr19_4964113_5158598	5131642	A A	AGGGGGGC others(408): Show AGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGG GCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAG GGGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGG GAGCTGGTGGTGGGGGAGGGGGGCAGGGGAGGAGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGG CAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGG GGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGG AGCTGGTGGCGGGGAG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01168.hp1 HG01074.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0122 a0001c0001t0005g0042 a0001c0001t0003g0122 a0001c0001t0005g0042	2	261	0.0077	415	c.178 others(432): Show c.1785+102_1785+103insGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGG CAGGTGGGGCACAGGGGAGCTGGTGGTGGGGGAGGGGGGCAGGGGAGGAG GGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGG AGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGG GCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAG GGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGC AGGTGGGGCACAGGGGAGCTGGTGGCGGGGAGGGGGG		KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22					INFO_REALIGN_3_PRIME	chr19	TogoVar
KIAA0930_chr22_45187244_45245894	45228743	T T	TACCACCA others(408): Show TACCACCACTCACCCGAAGATCCCTCTCCACCCCCCAACCACCAAACACT CACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGAT CCCTCTTCACCCCCCAACCACCACTCACCCGAAAGATCCCTCCCCATCCC CCCACCACTCACCCGAAAGATCCCTCTCCACCCCCCCAACCACCACACCC GAAAGATCCCTCCCCATCCCCCCCACCACTCACCCGAAAGATCCCTCTCC ACCCCCCCCCACCACTCACTCCGAAAGATCCCTCTCCACCCCCCTACCAC ACCACTCACCCGAAAGATCCCTCTCCACCCCCCACACCACCACTCACCCG AAAGATCCCTCTCCACCCCCCCAACCACGCAAACACTCACCCGAGAGATC CCTCTCCACCCCCGCC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0237 a0001c0001t0026g0237	1	288	0.0035	415	c.64+ others(432): Show c.64+11896_64+11897insGGCGGGGGTGGAGAGGGATCTCTCGGGT GAGTGTTTGCGTGGTTGGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGT GGTGTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGTGGTAGGGGGG TGGAGAGGGATCTTTCGGAGTGAGTGGTGGGGGGGGGTGGAGAGGGATCT TTCGGGTGAGTGGTGGGGGGGATGGGGAGGGATCTTTCGGGTGTGGTGGT TGGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGGGGGATGGGGAGG GATCTTTCGGGTGAGTGGTGGTTGGGGGGTGAAGAGGGATCTTTCGGGTG AGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGG TTGGGGGGTGGAGAGGGATCTTCGGGTGAGTGGTGGT		KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9						chr22	TogoVar
LAMC1_chr1_183018420_183150592	183150199	T T	TGTCCTCC others(408): Show TGTCCTCCTCACACACCACACAGCCCACACCCCTCCTCACACACCACACA GCTCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCT CCTCACACACCACACAGCTCACACCCCTCTCCTGCTCACACACCACACAG CTCACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTGCTC ACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCCCACAC CCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACC ACACAGCCCACACCCCTCTCCTCACACACCAGACAGCTCACACCCCTCTC CTCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACACCAGAC AGCTCACACCCCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 NA18948.hp2 NA19000.hp2 others(1): Show HG03834.hp2 NA18948.hp2 NA19000.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0002t0002 a0001c0003t0003	a0001c0002t0002g0064 a0001c0003t0003g0258 a0001c0003t0003g0296 others(1): Show a0001c0002t0002g0064 a0001c0003t0003g0258 a0001c0003t0003g0296 a0001c0003t0003g0297	4	266	0.0150	415	c.74 others(426): Show c.7409_*7410insGTCCTCCTCACACACCACACAGCCCACACCCCTC CTCACACACCACACAGCTCACACCCCTCTCCTCCTCACACACCACACAGC TCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTGC TCACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCAC ACCCCTCTCCTGCTCACACACCACACAGCTCACACCCCTCTCCTCACACA CCACACAGCCCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCC CTCTCCTCACACACCACACAGCCCACACCCCTCTCCTCACACACCAGACA GCTCACACCCCTCTCCTCCTCACACACCACACAGCCCACACCCCTCTCCT CCTCACACACCAGACAGCTCACACCCCTCTC		LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding					4608		chr1	TogoVar
LHPP_chr10_124456823_124619141	124507185	G G	GGGTAGAC others(408): Show GGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGG TAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGGGGGGGT AGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGG GAGGATTTCAGGTGAGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGG AGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTGTGGA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	215	0.0047	415	c.624 others(432): Show c.624+9059_624+9060insTAGACAGGATTTCAGGTGGGGGGGTAGA CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGGGA GGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGG ATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGAT TTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGGTAGGGAGGA TTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGAT TTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGGATT TCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGG		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507685	C C	CAGGATTT others(408): Show CAGGATTTCAGGTGGGGGGATAGGGAGGATTTCAGGTCGGTGGGGTAGAC AGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGAGGGGGGTAGGGA GGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAG GATTTCAGGTCGGTGGGGTAGACAGGATTTCAGGTGGGAGGGTAGACAGG ATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGTGGGGTAGACAGGA TTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGCAGGATT TCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTT CAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGACAGGATTTC AGGTGGGGGGGTAGGG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	160	0.0063	415	c.625 others(432): Show c.625-9482_625-9481insGGGGGATAGGGAGGATTTCAGGTCGGTG GGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGAGGGG GGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG ATAGGGAGGATTTCAGGTCGGTGGGGTAGACAGGATTTCAGGTGGGAGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGTGGGGT AGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAG GCAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGAC AGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTG		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(408): Show TAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG04184.hp2 HG04204.hp1 others(1): Show HG02602.hp1 HG04184.hp2 HG04204.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0048 a0001c0001t0001g0075 a0001c0001t0003g0211 a0001c0001t0001g0048 a0001c0001t0001g0075 a0001c0001t0003g0211	4	244	0.0164	415	c.112 others(432): Show c.1122-170_1122-169insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735535	A A	AAAAAAAA others(408): Show AAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01496.hp1 HG01515.hp2 others(2): Show HG01071.hp1 HG01496.hp1 HG01515.hp2 HG01978.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0074 a0001c0001t0003g0031 a0001c0001t0003g0192 a0001c0001t0001g0074 a0001c0001t0003g0031 a0001c0001t0003g0192	5	363	0.0138	415	c.112 others(432): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735535	A A	AAAAAAAA others(408): Show AAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00733.hp2 others(5): Show HG00099.hp2 HG00323.hp2 HG00733.hp2 HG01168.hp2 HG03139.hp1 HG03225.hp1 HG03491.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0003t0001	a0001c0001t0001g0053 a0001c0001t0002g0060 a0001c0001t0002g0173 others(3): Show a0001c0001t0001g0053 a0001c0001t0002g0060 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0006g0118 a0001c0003t0001g0244	8	366	0.0219	415	c.112 others(432): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735536	A A	AAAAAAAA others(408): Show AAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0189 a0001c0001t0003g0189	1	361	0.0028	415	c.112 others(432): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735536	A A	AAAAAAAA others(408): Show AAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02735.hp2 HG02738.hp1 others(10): Show HG02080.hp2 HG02735.hp2 HG02738.hp1 HG03239.hp2 HG03492.hp2 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18980.hp2 NA19058.hp1 NA19064.hp2 NA19079.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0049 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0049 a0001c0001t0001g0137 a0001c0005t0001g0220 a0001c0005t0001g0221	13	373	0.0349	415	c.112 others(432): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
MLPH_chr2_237482251_237560322	237544562	G G	GGGGGACA others(408): Show GGGGGACAGTGGTGAGTGGGGGCACGGTAGTGACTGGGGCGACAGTGGTG AGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGG TGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTTGGGGGACAGT GGTGAGTGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTTGGGGGACA GTGGTGAGTGGGGGCACGGTAGTGACTGGGGCGACAGTGGTGAGTGGGGG GACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGG GGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTG GGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGT GGGCACGGTGGTGAGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0086 a0002c0002t0002g0086	1	215	0.0047	415	c.153 others(434): Show c.1539+1907_1539+1908insACAGTGGTGAGTGGGGGCACGGTAGT GACTGGGGCGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGT GGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAG TGGTGAGTTGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTTGGGGGAC AGTGGTGAGTTGGGGGACAGTGGTGAGTGGGGGCACGGTAGTGACTGGGG CGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTG GGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGT GGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGA GTGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MPPED1_chr22_43407014_43512848	43432640	A A	AAAGGGAG others(408): Show AAAGGGAGGAGAGAGACGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATA AAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAG AGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAG AGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAG AGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	64	0.0156	415	c.225 others(432): Show c.225-2394_225-2393insAAGGGAGGAGAGAGACGGAAAGAGAGAG AGAAGGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGG AAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGG AGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6						chr22	TogoVar
MPPED1_chr22_43407014_43512848	43432643	G G	GGAGAGAG others(408): Show GGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAAGGGAGG AGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAG GAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGA AGGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGAGAGAGAGAGAA AGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGA AAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAGAGAAAGGGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp1 HG02451.hp2 others(4): Show HG02257.hp1 HG02280.hp1 HG02451.hp2 HG02896.hp2 HG03540.hp1 HG03579.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 a0001c0001 a0001c0004 a0001c0007	a0001c0001t0015 a0001c0004t0005 a0001c0004t0014 others(1): Show a0001c0001t0015 a0001c0004t0005 a0001c0004t0014 a0001c0007t0008	a0001c0001t0015g0211 a0001c0004t0005g0112 a0001c0004t0005g0231 others(4): Show a0001c0001t0015g0211 a0001c0004t0005g0112 a0001c0004t0005g0231 a0001c0004t0005g0233 a0001c0004t0014g0197 a0001c0004t0014g0232 a0001c0007t0008g0068	7	228	0.0307	415	c.225 others(432): Show c.225-2390_225-2389insAGAGAGAGGGAAAGAGAGAGAGAAGGGG AGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAG GAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAG AGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGA GAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(408): Show TAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG04184.hp2 HG04204.hp1 others(1): Show HG02602.hp1 HG04184.hp2 HG04204.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0005 a0001c0001t0001g0023	4	226	0.0177	415	c.18 others(426): Show c.1863_*1864insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTTTTT		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1768		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735535	A A	AAAAAAAA others(408): Show AAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01515.hp1 HG01978.hp1 others(1): Show HG01496.hp1 HG01515.hp1 HG01978.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0005 a0001c0001t0003g0004 a0001c0001t0001g0005 a0001c0001t0003g0004	4	342	0.0117	415	c.18 others(426): Show c.1862_*1863insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTTTTT		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1767		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735535	A A	AAAAAAAA others(408): Show AAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00733.hp1 HG01168.hp1 others(2): Show HG00323.hp2 HG00733.hp1 HG01168.hp1 HG03225.hp1 HG03491.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0051 a0003c0003t0001g0019 a0001c0001t0001g0001 a0001c0001t0001g0051 a0003c0003t0001g0019	5	343	0.0146	415	c.18 others(426): Show c.1862_*1863insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTTTTT		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1767		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735536	A A	AAAAAAAA others(408): Show AAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	334	0.0030	415	c.18 others(426): Show c.1861_*1862insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTTTTT		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1766		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735536	A A	AAAAAAAA others(408): Show AAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02735.hp2 HG02738.hp2 others(10): Show HG02080.hp2 HG02735.hp2 HG02738.hp2 HG03239.hp2 HG03492.hp2 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18980.hp1 NA19058.hp1 NA19064.hp1 NA19079.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0024	13	346	0.0376	415	c.18 others(426): Show c.1861_*1862insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTTTTT		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1766		chr1	TogoVar
MUC4_chr3_195741771_195816929	195760591	G G	GCTAGGAT others(408): Show GCTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAG TGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTG GGAAGGCGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCA GCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGA GTGGAGGGGGCTGGGAAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTG GGAAGGCGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGAAGGGGTCCA GCGCTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGG ATGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTGGAGGGGGCT GGGAAGGGGTCCAGCA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0060 a0060	a0060c0160 a0060c0160	a0060c0160t0009 a0060c0160t0009	a0060c0160t0009g0222 a0060c0160t0009g0222	1	246	0.0041	415	c.148 others(434): Show c.14848+292_14848+293insTGCTGGACCCCTTCCCAGCCCCCTCC ACTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGACCCCTT CCCAGCCCCCTCCACTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTC CATCCATCCTAGCGCTGGACCCCTTCCCAGCCCCCTCCACTCCATCCTAG TGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTT CCCAGCCCCCTCCACTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTC CACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTA GCGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAG		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24						chr3	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(408): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATATAATATATATTATATTATATAATATATATTATATAAAATATATA TTATATTATATATAATATATATTTTATAAAATATATATTATATTATATAA TATATATTTTATAAAATATATATTATATTATATATAATATATATTATATA AAATATATATTATATTATATAATATATATTATATATAATATATATTATAT AAAATATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	117	0.0085	415	c.51 others(426): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT ATAATATATATTATATAATATAATATATATTTTATATAATATATATTATA TATAATATAATATATATTTTATAAAATATATATTATATAATATAATATAT ATTTTATAAAATATATATTATATATAATATAATATATATTTTATATAATA TATATTATATAATATAATATATATTATATATAATATATATTATATATAAT ATAATATATATTTTATATAATATATATTATATATAATATAATATATATTT TATATAATATATATTATATATAATATAATATATATTTTATATAATATATA TTATATATAATATAATATATATTTTATATAATATATATTATATATAATAT AATATATATTATATATAATATATATTATATA		MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding					4927		chr12	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(408): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATAAAAATTTATATTTATATATCAT AAATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATATATCATATATAAAAA TTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	196	0.0051	415	c.-28 others(426): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATAAATATATAAAAATTTATATTTATATATCATAAATAAAAATTT ATATTTATATATCATAAATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATA TATCATATATAAAAATTTATATTTATATATC		MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding					2793		chr3	TogoVar
NELFB_chr9_137250327_137278542	137273768	A A	AATAATTT others(408): Show AATAATTTCTGGGGGAGGATGATATAATTTCTGGGGGAGGTTGATGTAAT TTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATTTCTGGGGG AGGTTGATAAAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGGTTG ATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATGATATAA TAATTTCTGGGGGAAGTTGATATAATTTCTGGGGGAGGTTGATGTAATTT CTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATTTCTGGGGGAG GTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATA ATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATGTAATT TCTGGGGGAGGTTGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG03471.hp1 HG01109.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0080 a0001c0002t0004g0081 a0001c0002t0004g0080 a0001c0002t0004g0081	2	7	0.2857	415	c.84 others(424): Show c.840_*841insATAATTTCTGGGGGAGGATGATATAATTTCTGGGGG AGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATA TAATTTCTGGGGGAGGTTGATAAAATTTCTGGGGGAGGATATAATAATTT CTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGG GAGGATGATATAATAATTTCTGGGGGAAGTTGATATAATTTCTGGGGGAG GTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATA ATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCT GGGGGAGGATATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGA GGTTGATGTAATTTCTGGGGGAGGTTGAT		NELFB	ENSG00000188986.9	transcript	ENST00000343053.6	protein_coding					227		chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGGGG others(408): Show GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGAGTGGGTGGAGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGG TGCAGGGTGGGAGGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGC AATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGG GGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCA GGGGCAATGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCC AGGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0216 a0001c0001t0007g0216	1	206	0.0049	415	c.140 others(432): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCATTGCCCCTGGGAGGGATCC TGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGATC CTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGA TCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGG ATCCTGAGTGCTCCCCCCTCCACCCCTCCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCCTCCACCCACTCCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCAC		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535607	G G	GGTGCAGG others(408): Show GGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATG GGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAG GGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATC CCTCCCGGGGCAATGA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0011 a0001c0003t0008g0011	1	284	0.0035	415	c.140 others(432): Show c.140+8416_140+8417insTCATTGCCCCGGGAGGGATCCTGAGTGC TCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGA TCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCTGGGAGG GATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGG GATCCTGAGTGCTCCCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCAC		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NXN_chr17_794310_984776	949145	G G	GCGGCCTC others(408): Show GCGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCTGCC TCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCC CCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCT CTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCC TCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCC CCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTC CTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTG CCTCCTCCTCTCCCCC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	84	0.0119	415	c.360 others(434): Show c.360+30173_360+30174insGGGGGAGAGGAGGAGGCAGGGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCG GGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAG GAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGG AGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGC AGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGA GGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGCGGGG AGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGC AGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCG		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
OPCML_chr11_132409981_133537501	133082580	A A	ATCCTCTC others(408): Show ATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATC CTCTCCTCCCCCTCGCACATCCCCCTTCCCCTCCTCCCCTCCTCATTCTC TCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCATCCTCTCCTCCCCCTC GCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCC CATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCAT CCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCC CCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCT TCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCC CCTCCTCCCCTCCTCG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0064 a0001c0001t0009g0064	1	56	0.0179	415	c.62- others(434): Show c.62-139571_62-139570insCGAGGAGGGGAGGAGGGGAAGGGGGA TGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGG GCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCG AGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGG GGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGG AGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGG AGAGGATGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGAATGAGG AGGGGAGGAGGGGAAGGGGGATGTGCGAGGGGGAGGAGAGGATGAGGAGG GGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGA		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OPCML_chr11_132409981_133537501	133082580	A A	ATCCTCTC others(408): Show ATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATC CTCTCCTCCCCCTCGCACATCCCCCTTCCCCTCCTCCCCTCCTCATTCTC TCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCATCCTCTCCTCCCCCTC GCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCC CATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCAT CCCCCTTCCCCTCCTCTCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCC CCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCT TCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCC CCTCCTCCCCTCCTCG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0056 a0001c0001t0011g0056	1	56	0.0179	415	c.62- others(434): Show c.62-139571_62-139570insCGAGGAGGGGAGGAGGGGAAGGGGGA TGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGG GCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCG AGGGGGAGGAGAGGATGAGGAGGAGAGGAGGGGAAGGGGGATGGGCGAGG GGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGG AGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGG AGAGGATGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGAATGAGG AGGGGAGGAGGGGAAGGGGGATGTGCGAGGGGGAGGAGAGGATGAGGAGG GGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGA		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OPCML_chr11_132409981_133537501	133082580	A A	ATCCTCTC others(408): Show ATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATC CTCTCCTCCCCCTCGCACATCCCCCTTCCCCTCCTCCCCTCCTCATTCTC TCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCATCCTCTCCTCCCCCTC GCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCC CATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCGAT CCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCC CCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCT TCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCC CCTCCTCCCCTCCTCG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0004	1	56	0.0179	415	c.62- others(434): Show c.62-139571_62-139570insCGAGGAGGGGAGGAGGGGAAGGGGGA TGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGG GCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCG AGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATCGGCGAGG GGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGG AGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGG AGAGGATGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGAATGAGG AGGGGAGGAGGGGAAGGGGGATGTGCGAGGGGGAGGAGAGGATGAGGAGG GGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGA		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
PADI4_chr1_17303197_17369004	17351978	A A	ATGGGAGG others(408): Show ATGGGAGGTGGGAGGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGGAGGA GAGGCAGTCAGGGAGGTGATGGGAGGTGGGAGGAGAGGCGGTCAGGGAGG TGATGGGAGGTGGGAGGAGAGGCGGCCAGGGAGGAGACAGGAGGCAGTAG GAGAGGCCGTCAGGGAGGTGATGGGAGGTGGGAGGAGAGGCAGTCAGGGA GGTGATGGGAGGTGGGAAGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGG AAGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGGAAGAGAGGCAGTCAGG GAGGTGATGGGAGGTGGGAAGAGAGGCCATCAGGGAGGTGATGGGAGGTG GGAGGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGGAAGAGAGGCAGTCA GGGAGGTGATGGGAGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0352 a0002c0004t0001g0352	1	341	0.0029	415	c.115 others(434): Show c.1156-2548_1156-2547insTGGGAGGAGAGGCAGTCAGGGAGGTG ATGGGAGGTGGGAGGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGGAGGA GAGGCGGTCAGGGAGGTGATGGGAGGTGGGAGGAGAGGCGGCCAGGGAGG AGACAGGAGGCAGTAGGAGAGGCCGTCAGGGAGGTGATGGGAGGTGGGAG GAGAGGCAGTCAGGGAGGTGATGGGAGGTGGGAAGAGAGGCAGTCAGGGA GGTGATGGGAGGTGGGAAGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGG AAGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGGAAGAGAGGCCATCAGG GAGGTGATGGGAGGTGGGAGGAGAGGCAGTCAGGGAGGTGATGGGAGGTG GGAAGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGGAGG		PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
PALD1_chr10_70473767_70573450	70554949	T T	TCCCCTCC others(408): Show TCCCCTCCCCCTCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCTTCCCC CTCCTCCCCCTCCCCTCCCTTCCCCCTCCTCCCCCTCCCTTCCCCCTCCT CCCCCTCCCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCTC CTTCCCTCCCCCTCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCCTCCC CCTCCTCCCCCTCCTTCCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTC CTCCCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCTCCCC CTCCTCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCT TCCCCTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCC CCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02723.hp2 HG03209.hp1 HG02717.hp2 HG02723.hp2 HG03209.hp1	a0005 a0011 a0005 a0011	a0005c0015 a0011c0017 a0005c0015 a0011c0017	a0005c0015t0014 a0005c0015t0042 a0011c0017t0002 a0005c0015t0014 a0005c0015t0042 a0011c0017t0002	a0005c0015t0014g0249 a0005c0015t0042g0266 a0011c0017t0002g0184 a0005c0015t0014g0249 a0005c0015t0042g0266 a0011c0017t0002g0184	3	294	0.0102	415	c.226 others(434): Show c.2262+7505_2262+7506insCCTCCCCCTCCTCCCCCTCCCTTCCC CCTCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCCTCCCTTCCCCCTCC TCCCCCTCCCTTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCT CCCCTCCCCCTCCTCCCCCTCCTTCCCTCCCCCTCCTCCCCCTCCCTTCC CCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCTTCCCTCCCCCTCCT CCCCCTCCTCCCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCCCTCC CCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTTCCCCTCCCCTCCACTCC CCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCC		PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19					INFO_REALIGN_3_PRIME	chr10	TogoVar
PARP10_chr8_143972158_143991460	143981780	A A	AGGGTCAT others(408): Show AGGGTCATGGTGATGGTGATGATGATGAGTGGGGATGATGGTGGTGATGG TGACTGTTGTGATGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGACA GTGAGTGGTGAGGGTCATGGTGATGGTGATGATGATGATGAGTGGGGATG ATTATGGTGATGGTGGTGGTGATGGTGATTGTTGTGATGGTGATGGTGGT GATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGGTGATGATGATG AGTGGGGATGATTATGGTGATGGTGGTGGTGATGGTGATTGTTGTGATGG TGATGGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGGT GATGATGATGAGTGGGGATGATTATGGTGATGGTGGTGGTGATGGTGACT GTTGTAATGGTGATGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp1 NA18747.hp1 others(5): Show HG00558.hp2 HG00673.hp1 NA18747.hp1 NA18959.hp1 NA18962.hp1 NA18969.hp2 NA18989.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0149 a0001c0001t0001g0150 others(4): Show a0001c0001t0001g0031 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154	8	376	0.0213	415	c.255 others(434): Show c.2556+1151_2556+1152insCCATCACCATTACAACAGTCACCATC ACCACCACCATCACCATAATCATCCCCACTCATCATCATCACCATCACCA TCACCATGACCCTCACCACTCACTGTCATCACCACCATCACCATCACAAC AATCACCATCACCACCACCATCACCATAATCATCCCCACTCATCATCATC ACCATCACCATCACCATGACCCTCACCACTCACTGTCATCACCACCATCA CCATCACAACAATCACCATCACCACCACCATCACCATAATCATCCCCACT CATCATCATCATCACCATCACCATGACCCTCACCACTCACTGTCATCACC ACCACCATCACCATCACCACCATCACCATCACAACAGTCACCATCACCAC CATCATCCCCACTCATCATCATCACCATCACCATGACCC		PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10						chr8	TogoVar
PARP10_chr8_143972158_143991460	143981820	A A	AGGGTCAT others(408): Show AGGGTCATGGTGATGGTGATGATGATGAGTGGGGATGATGGTGGTGATGG TGACTGTTGTGATGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGACA GTGAGTGGTGAGGGTCATGGTGATGGTGATGATGATGATGAGTGGGGATG ATTATGGTGATGGTGGTGGTGATGGTGATTGTTGTGATGGTGATGGTGGT GATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGGTGATGATGATG AGTGGGGATGATTATGGTGATGGTGGTGGTGATGGTGATTGTTGTGATGG TGATGGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGGT GATGATGATGAGTGGGGATGATTATGGTGATGGTGGTGGTGATGGTGACT GTTGTAATGGTGATGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA18979.hp2 HG00140.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0137 a0001c0001t0001g0126 a0001c0001t0001g0137	2	376	0.0053	415	c.255 others(434): Show c.2556+1111_2556+1112insCCATCACCATTACAACAGTCACCATC ACCACCACCATCACCATAATCATCCCCACTCATCATCATCACCATCACCA TCACCATGACCCTCACCACTCACTGTCATCACCACCATCACCATCACAAC AATCACCATCACCACCACCATCACCATAATCATCCCCACTCATCATCATC ACCATCACCATCACCATGACCCTCACCACTCACTGTCATCACCACCATCA CCATCACAACAATCACCATCACCACCACCATCACCATAATCATCCCCACT CATCATCATCATCACCATCACCATGACCCTCACCACTCACTGTCATCACC ACCACCATCACCATCACCACCATCACCATCACAACAGTCACCATCACCAC CATCATCCCCACTCATCATCATCACCATCACCATGACCC		PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10						chr8	TogoVar
PARP10_chr8_143972158_143991460	143981860	A A	AGGGTCAT others(408): Show AGGGTCATGGTGATGGTGATGATGATGAGTGGGGATGATGGTGGTGATGG TGACTGTTGTGATGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGACA GTGAGTGGTGAGGGTCATGGTGATGGTGATGATGATGATGAGTGGGGATG ATTATGGTGATGGTGGTGGTGATGGTGATTGTTGTGATGGTGATGGTGGT GATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGGTGATGATGATG AGTGGGGATGATTATGGTGATGGTGGTGGTGATGGTGATTGTTGTGATGG TGATGGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGGT GATGATGATGAGTGGGGATGATTATGGTGATGGTGGTGGTGATGGTGACT GTTGTAATGGTGATGG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	2	355	0.0056	415	c.255 others(434): Show c.2556+1071_2556+1072insCCATCACCATTACAACAGTCACCATC ACCACCACCATCACCATAATCATCCCCACTCATCATCATCACCATCACCA TCACCATGACCCTCACCACTCACTGTCATCACCACCATCACCATCACAAC AATCACCATCACCACCACCATCACCATAATCATCCCCACTCATCATCATC ACCATCACCATCACCATGACCCTCACCACTCACTGTCATCACCACCATCA CCATCACAACAATCACCATCACCACCACCATCACCATAATCATCCCCACT CATCATCATCATCACCATCACCATGACCCTCACCACTCACTGTCATCACC ACCACCATCACCATCACCACCATCACCATCACAACAGTCACCATCACCAC CATCATCCCCACTCATCATCATCACCATCACCATGACCC		PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10						chr8	TogoVar
PCBP3_chr21_45638725_45947450	45843077	A A	AGAATAGC others(408): Show AGAATAGCGAACTCACCGCTGTGTCATTCTCCAAATCCCAAGGGCCCAGC CAGTCCCCCTTCTTCCCTCCAGCTTTCAGGGTTTGAATAGCGAACTCACC GCTGTGTCATTCTCCAAATCCCAAGGGCCCAGCCAGTCCCCCTTCTTCCC TCCAGCTTTCAGGGTTTGAATAGCGAACTCACCGCTGTGTCATTCTCCAA ATCCCAAGGGCCCAGCCAGTCCCCCTTCTTCCCTCCAGCTTTCAGGGTTT GAATAGTGAACTCACCGCTGTGTCATTCTCCAAATCCCAAGGGCCCAGCC AGTCCCCCTTCTTCCCTCCAGCTTTCAGGGTTTGAATAGCGAACTCACCG CTGTGTCATTCTCCAAATCCCAAGGGCCCAGCCAGTCCCCCTTCTTCCCT CCAGCTTTCAGGGTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp2 HG03098.hp1 others(1): Show HG01891.hp2 HG02559.hp2 HG03098.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0014 a0001c0001t0002 a0001c0003t0014	a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0003t0014g0289 others(1): Show a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0003t0014g0289 a0001c0003t0014g0290	4	290	0.0138	415	c.-12 others(434): Show c.-125-6802_-125-6801insTGAATAGCGAACTCACCGCTGTGTCA TTCTCCAAATCCCAAGGGCCCAGCCAGTCCCCCTTCTTCCCTCCAGCTTT CAGGGTTTGAATAGCGAACTCACCGCTGTGTCATTCTCCAAATCCCAAGG GCCCAGCCAGTCCCCCTTCTTCCCTCCAGCTTTCAGGGTTTGAATAGTGA ACTCACCGCTGTGTCATTCTCCAAATCCCAAGGGCCCAGCCAGTCCCCCT TCTTCCCTCCAGCTTTCAGGGTTTGAATAGCGAACTCACCGCTGTGTCAT TCTCCAAATCCCAAGGGCCCAGCCAGTCCCCCTTCTTCCCTCCAGCTTTC AGGGTTTGAATAGCGAACTCACCGCTGTGTCATTCTCCAAATCCCAAGGG CCCAGCCAGTCCCCCTTCTTCCCTCCAGCTTTCAGGGTT		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(408): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	50	0.0200	415	c.129 others(432): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAG ATCTATTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTA TTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAA		PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17						chr7	TogoVar
PNPLA7_chr9_137454952_137555402	137502737	C C	CGCGGGGG others(408): Show CGCGGGGGGACGCGGGGGGGACGGGGGGGACGGGGGGGGGGCGGGGGGGG CGGGGGGGGGCGGGGGACGGGGGGGGCGGGGGACGCGGGGGACGGGGGGG ACGGGGGGGGACGCGGGGGGGACGGGGGGGACGGGGGGGGACGGGGGGGG ACGGGGGGGACGCGGGGGGGACGGGGGGGGCGGGGGGGGGCGGGGGGGGG GCGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGAGGGGGACGCG GGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGG GGACGGGGGGGGGGGGGGGGGGCGGGGGGGGCGGGGGGGGGGCGGGGGGG ACGGGGGGGACGGGGGGGGCGGGGGGGGCGGGGGGGACGGGGGGGACGGG GGGGGACACGGGGGAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0182 a0005c0007t0001g0182	1	133	0.0075	415	c.147 others(434): Show c.1474-1011_1474-1010insATCCCCCGTGTCCCCCCCCGTCCCCC CCGTCCCCCCCGCCCCCCCCGCCCCCCCCGTCCCCCCCGTCCCCCCCGCC CCCCCCCCGCCCCCCCCGCCCCCCCCCCCCCCCCCCGTCCCCCCCCGCGT CCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCC TCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCCCGCCCCCCCCCCG CCCCCCCCCGCCCCCCCCGTCCCCCCCGCGTCCCCCCCGTCCCCCCCCGT CCCCCCCCGTCCCCCCCGTCCCCCCCGCGTCCCCCCCCGTCCCCCCCGTC CCCCGCGTCCCCCGCCCCCCCCGTCCCCCGCCCCCCCCCGCCCCCCCCGC CCCCCCCCCGTCCCCCCCGTCCCCCCCGCGTCCCCCCGC		PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34						chr9	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CCCTCCCT others(408): Show CCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCC CTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTC CCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCA CCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCC TCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCC ACCTCCCCTCTCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	73	0.0137	415	c.23 others(426): Show c.2397_*2398insCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCT CTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCA CCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTC CCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCC TCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTG		PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding					2117		chr19	TogoVar
PXMP2_chr12_132682587_132709985	132694348	C C	CAGTTAGT others(408): Show CAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAAGTGAGCGCCCTTAGC CAGTTAGTTAAGTGAGCGCCCTTAGCCAGTTAGTGAGCGCCCTTAGCCAG TTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTT AGTTAGTGAGCTCCCTGAGCCAGTTAGTGAGCTCCCTTGCCAGTTAGTTA GTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGTCAGTTAGTTAG TGAGCGCCCTTAGCCAGTTAGTTAGTGAGCGCCCTTAGCCAGTTAGTTAG TGAGCGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTTAGT GAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGA GCTCCCTTAGTCAGTT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0158 a0001c0003t0003g0158	1	324	0.0031	415	c.237 others(432): Show c.237-1529_237-1528insTAGTGAGCGCCCTTGCCAGTTAGTTAAG TGAGCGCCCTTAGCCAGTTAGTTAAGTGAGCGCCCTTAGCCAGTTAGTGA GCGCCCTTAGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAG CGCCCTTGCCAGTTAGTTAGTGAGCTCCCTGAGCCAGTTAGTGAGCTCCC TTGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTT AGTCAGTTAGTTAGTGAGCGCCCTTAGCCAGTTAGTTAGTGAGCGCCCTT AGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTA GCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTGC CAGTTAGTTAGTGAGCTCCCTTAGTCAGTTAGTTAGT		PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr12	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGAGGGGA others(408): Show AGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGG AGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGAGGAGG GGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGA GGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGG GGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGG GAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGA GGGGGAGGGGGGAGGGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGGAGG AGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	30	0.0333	415	c.36 others(426): Show c.3638_*3639insGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGG GGAGGGGGGAGGGGGAGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGG AGGGGGGAGGAGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGA GGAGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGG AGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAG GAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGG GAGGGGGAGGAGGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGG AGGAGGGGAAGGGGAGGGGGAGGGGGGAGGGGAGGGGAGGGCGGGGAGGA GGGGACGGGGGGAGGAGGGGAGGGGGGAGGG		REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding					2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(408): Show AGGGGAAGAGGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGGAGGGGGAGG GGGAGGAGGGAGGAGGGGAAGAGGAGGAGGGGAGGGGGGAGGAGGGGAGG GGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGAGGAGGGGGGGAG GAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGG GAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAG GAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGA GGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGG GGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGG AGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	30	0.0333	415	c.36 others(426): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGAGGAGGGGAGG GGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGG GGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGG GAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGG GGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAA GGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGG GGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGG AGGGGACGGGGGAGGAGGGGAGGGGGGAGGG		REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding					2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(408): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAG GGGGGGGAGGGGGAGGGGGAGGAGGGAGGGAGGGGGAGGAGGGGGGGAGG AGGGGAGGGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGG GGAGAGGGGGGAGGGGGAGAGGGAGGAGGGGAGGGGGAGGAGGGAAGGAG GAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGA GGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGG GGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGG AGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0006	1	30	0.0333	415	c.36 others(426): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAG GGGGGAGGAGGGGAGGGGGGGGAGGGGGAGGGGGAGGAGGGAGGGAGGGG GAGGAGGGGGGGAGGAGGGGAGGGGGGGGGAGGAGGGGAGGGGGGAGGAG GGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGAGGAGGGGAGGG GGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAA GGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGG GGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGG AGGGGACGGGGGAGGAGGGGAGGGGGGAGGG		REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding					2923		chr19	TogoVar

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