Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(357): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATATAATATATATTATATTATATAATATATATTATATAAAATATATA TTATATTATATATAATATATATTTTATAAAATATATATTATATTATATAA TATATATTTTATAAAATATATATTATATTACATATAATATATATTATATA AAATATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	368	0.0027	364	c.51 others(375): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT GTAATATAATATATATTTTATAAAATATATATTATATAATATAATATATA TTTTATAAAATATATATTATATATAATATAATATATATTTTATATAATAT ATATTATATAATATAATATATATTATATATAATATATATTATATATAATA TAATATATATTTTATATAATATATATTATATATAATATAATATATATTTT ATATAATATATATTATATATAATATAATATATATTTTATATAATATATAT TATATATAATATAATATATATTTTATATAATATATATTATATATAATATA ATATATATTATATATAATATATATTATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4927		chr12	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(357): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATATAATATATATTATATTATATAATATATATTATATAAAATATATA TTATATTATATATAATATATATTTTATAAAATATATATTATATTATATAA TATATATTTTATAAAATATATATTATATTATATATAATATATATTATATA AAATATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00639.hp2 HG01884.hp1 others(11): Show HG00423.hp1 HG00639.hp2 HG01884.hp1 HG02559.hp1 HG03017.hp2 HG03139.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp2 NA19070.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0055 a0001c0001t0001g0075 a0001c0001t0001g0076	14	368	0.0380	364	c.51 others(375): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT ATAATATAATATATATTTTATAAAATATATATTATATAATATAATATATA TTTTATAAAATATATATTATATATAATATAATATATATTTTATATAATAT ATATTATATAATATAATATATATTATATATAATATATATTATATATAATA TAATATATATTTTATATAATATATATTATATATAATATAATATATATTTT ATATAATATATATTATATATAATATAATATATATTTTATATAATATATAT TATATATAATATAATATATATTTTATATAATATATATTATATATAATATA ATATATATTATATATAATATATATTATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4927		chr12	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(357): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATATAATATATATTATATTATATAATATATATTATATATAATATATA TTATATTATATATAATATATATTTTATAAAATATATATTATATTATATAA TATATATTTTATAAAATATATATTATATTATATATAATATATATTATATA AAATATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01361.hp1 HG01071.hp2 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0068 a0001c0001t0001g0001 a0001c0001t0001g0068	2	368	0.0054	364	c.51 others(375): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT ATAATATAATATATATTTTATAAAATATATATTATATAATATAATATATA TTTTATAAAATATATATTATATATAATATAATATATATTATATATAATAT ATATTATATAATATAATATATATTATATATAATATATATTATATATAATA TAATATATATTTTATATAATATATATTATATATAATATAATATATATTTT ATATAATATATATTATATATAATATAATATATATTTTATATAATATATAT TATATATAATATAATATATATTTTATATAATATATATTATATATAATATA ATATATATTATATATAATATATATTATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4927		chr12	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(357): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATATAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATAATATATATTATATAAAATATATA TTATATTATATATAATATATATTTTATAAAATATATATTATATTATATAA TATATATTTTATAAAATATATATTATATTATATATAATATATATTATATA AAATATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	368	0.0027	364	c.51 others(375): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT ATAATATAATATATATTTTATAAAATATATATTATATAATATAATATATA TTTTATAAAATATATATTATATATAATATAATATATATTTTATATAATAT ATATTATATAATATAATATATATTTTATATAATATATATTATATATAATA TAATATATATTTTATATAATATATATTATATATAATATAATATATATTAT ATATAATATATATTATATATAATATAATATATATTTTATATAATATATAT TATATATAATATAATATATATTTTATATAATATATATTATATATAATATA ATATATATTATATATAATATATATTATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4927		chr12	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(357): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATATAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATTAAATATATATTATATTATATATAATATATAT TATATATAATATATATTATATTATATAATATATATTATATAAAATATATA TTATATTATATATAATATATATTTTATAAAATATATATTATATTATATAA TATATATTTTATAAAATATATATTATATTATATATAATATATATTATATA AAATATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	368	0.0027	364	c.51 others(375): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT ATAATATAATATATATTTTATAAAATATATATTATATAATATAATATATA TTTTATAAAATATATATTATATATAATATAATATATATTTTATATAATAT ATATTATATAATATAATATATATTATATATAATATATATTATATATAATA TAATATATATTTAATATAATATATATTATATATAATATAATATATATTTT ATATAATATATATTATATATAATATAATATATATTTTATATAATATATAT TATATATAATATAATATATATTATATATAATATATATTATATATAATATA ATATATATTATATATAATATATATTATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4927		chr12	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(357): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATATAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATTAAATATATATTATATTATATATAATATATAT TATATATAATATATATTATATTATATAATATATATTATATAAAATATATA TTATATTATATATAATATATATTTTATAAAATATATATTATATTATATAA TATATATTTTATATAATATATATTATATTATATATAATATATATTATATA AAATATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	364	c.51 others(375): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT ATAATATAATATATATTATATAAAATATATATTATATAATATAATATATA TTTTATAAAATATATATTATATATAATATAATATATATTTTATATAATAT ATATTATATAATATAATATATATTATATATAATATATATTATATATAATA TAATATATATTTAATATAATATATATTATATATAATATAATATATATTTT ATATAATATATATTATATATAATATAATATATATTTTATATAATATATAT TATATATAATATAATATATATTATATATAATATATATTATATATAATATA ATATATATTATATATAATATATATTATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4927		chr12	TogoVar
NEU4_chr2_241804193_241822413	241807650	T T	TCCCTCCC others(357): Show TCCCTCCCTCCTCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCACCCCCCTCAACCC AGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCGCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCC TCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCACCCCCCCTCA ACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCGCTCAGCCCAGG GACCTCCGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	319	0.0031	364	c.-16 others(375): Show c.-1628_-1627insCCCTCCCTCCTCCCTCAGCCCAGGAACCTCCGCA GGCCACCTTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCC CACCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCG CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCT GCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCC TCCCACCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTC CCCGCTCAGCCCAGGGACCTCCGCAGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1542		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79532288	C C	CGCCTGCA others(357): Show CGCCTGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCCGCCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCGCCTGCAGCCCCCCCGCCCCCCGGCAGACCCTCCTGT CTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGC AGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGC CCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCCGCCCCCCGGCA GACCCTCCTGTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0042 a0001c0001t0006g0042	1	322	0.0031	364	c.47 others(375): Show c.4711_*4712insGCCTGCAGTCCCCCGCCCCTCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCCGCCCCCCCGGCAGACCCTCCTGTCTCCGC CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCCGCCCCCC GGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCT CCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCG CCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCC CCCCGCCCCCCGGCAGACCCTCCTGTCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2966		chr18	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CCGTATAT others(357): Show CCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACC GTATATATACACAGTATGTATACTGTGTATATATACACAGTATGTATACT GCATACAGTATGTATACTGTATACATACTGCATGCAGTATGTATACTGTA TACATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTATGT ATACTGTATATATACACTATACAGTATGTATACTGTATATATACACTATA CAGTATGTATACTGTATATATACACAATACAGTATGTATACTGTATATAT ACACAATACAGTATGTATACTGTATATATACACACAGTATGTATACTGTA TATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	362	0.0028	364	c.-75 others(383): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTATTGTGTATATATACAGT ATACATACTGTATTGTGTATATATACAGTATACATACTGTATAGTGTATA TATACAGTATACATACTGTATAGTGTATATATACAGTATACATACTGCAT GCAGTATGTATACAGTATACATACTGCATGCAGTATGTATACAGTATACA TACTGCATGCAGTATGTATACAGTATACATACTGTATGCAGTATACATAC TGTGTATATATACACAGTATACATACTGTGTATATATACGGTATACATAC TGTGTATATATACGGTATACATACTGTGTATATATACG	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(357): Show CTGTGTACAGCATGTATACTGTATGTATGTATACTGTATGTATGTATACT GTATGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACA CAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACA GTATGTATACCGTATATATACACAGTATGTATACTGTGTATGCAGTATGT ATACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATG CAGTATGTATACTGTATATATACACTATACAGTATGTATACTGTATATAT ACACTATACAGTATGTATACTGTATATATACACACAGTATGTATACTGTA TATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0243 a0001c0004t0004g0243	1	362	0.0028	364	c.-75 others(383): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATACAGT ATACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATG TATACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCAT ACACAGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACATACAGTATACATAC ATACAGTATACATACATACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(357): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01168.hp1 HG01169.hp2 others(3): Show HG00733.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01346.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0021 a0002c0002t0001g0300 a0002c0002t0001g0301 others(1): Show a0002c0002t0001g0021 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0004g0299	6	422	0.0142	364	c.195 others(381): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTT ACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATATACTAACTATATTAATATAGTTACT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGGGG others(357): Show GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGC AATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAG GGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCC GGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18985.hp1 HG02083.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0011 a0001c0001t0007 a0001c0001t0011	a0001c0001t0007g0212 a0001c0001t0011g0153 a0001c0001t0007g0212 a0001c0001t0011g0153	2	324	0.0062	364	c.140 others(381): Show c.140+8514_140+8515insTGCACCCATTGCCCCGGGAGGGATCCTG AGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCC TGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGAT CCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGA TCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCA TTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCA TTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRCAM_chr7_108142649_108461436	108163892	G G	GGGTGGGG others(357): Show GGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAG AGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCAGGTGGGGT GGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATA CCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCGGTAAT GAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGG GTGGGGTAATGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCA TACCGGGTGGGGTGGGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAG TGAGAGGTCATACCA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	208	0.0048	364	c.346 others(383): Show c.3466+3028_3466+3029insTGGTATGACCTCTCACTACCCCACCC CACCTGGTATGACCTCTCATTACCCCACCCCACCCGGTATGACCTCTCAT TACCGCCACCCCACCCGGTATGACCTCTCATTACCCCACCCCACCCGGTA TGACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCATTACCGCCAC CCCACCCGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACCTCTC ATTACCGCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCTGG TATGACCTCTCATTACCGCCACCCCACCCGGTATGACCTCTCACTACCCC ACCCCACCCGGTATGACCTCTCACTACCCCACCCCACC	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NRCAM_chr7_108142649_108461436	108164029	G G	GTGAGAGG others(357): Show GTGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTG GGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGT CATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCAGGTGGGGTGGGGT AGTGAGAGGTCATACCGGGTGGGGGTGGCGGTAATGAGAGGTCATACCGG GTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAG GTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGC GGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCG GGTGGGGTGGGGTAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	208	0.0048	364	c.346 others(383): Show c.3466+2891_3466+2892insTTACCCCACCCCACCCGGTATGACCT CTCACTACCCCACCCCACCTGGTATGACCTCTCATTACCGCCACCCCACC CGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACCTCTCACTACC CCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACC TCTCATTACCGCCACCCCCACCCGGTATGACCTCTCACTACCCCACCCCA CCTGGTATGACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCATTA CCCCACCCCACCCGGTATGACCTCTCATTACCGCCACCCCACCCGGTATG ACCTCTCATTACCCCACCCCACCCGGTATGACCTCTCA	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NRCAM_chr7_108142649_108461436	108164029	G G	GTGAGAGG others(357): Show GTGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTG GGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGT CATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCAGGTGGGGTGGGGT AGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCGGG TGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGG TCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGGTGGC GGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCG GGTGGGGTGGGGTAA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0204 a0001c0002t0001g0204	1	208	0.0048	364	c.346 others(383): Show c.3466+2891_3466+2892insTTACCCCACCCCACCCGGTATGACCT CTCACTACCCCACCCCACCTGGTATGACCTCTCATTACCGCCACCCCCAC CCGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACCTCTCACTAC CCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCCGGTATGAC CTCTCATTACCGCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCA CCTGGTATGACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCATTA CCCCACCCCACCCGGTATGACCTCTCATTACCGCCACCCCACCCGGTATG ACCTCTCATTACCCCACCCCACCCGGTATGACCTCTCA	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(357): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATTATAT ATATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTA TATATATAATATATATAATATATATTATATATATAAAGTATATATATAAT ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATTATAT ATATAAAGTATATATATAATATATATTATATATATAAAATATATAATATA TATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0007 a0001c0017t0007	a0001c0017t0007g0189 a0001c0017t0007g0189	1	308	0.0033	364	c.730 others(381): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATAATATATATTATATATATACTTTATATATATAATATATAT TATATATATTATATATATACTTTATATATATAATATATATTATATATATT ATATATATACTTTATATATATAATATATATTATATATATTATATATATAC TTTATATATATAATATATATTATATATATTATATATATACTTTATATATA TAATATATATTATATATATTATATATATACTTTATATATATAATATATAT TATATATATTATATATATACTTTATATATATAATATATATTATATATATT ATATATATACTTTATATATATAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NSMCE1_chr16_27219994_27273772	27246963	T T	TAAAACTC others(357): Show TAAAACTCCTAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCT GGCTAACACGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCAGTCCAG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0138 a0003c0004t0002g0138	1	334	0.0030	364	c.136 others(383): Show c.136+10471_136+10472insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCAC GCCCGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTC AATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCACGCCCGGCCTAGGAGTTTT	NSMCE1	ENSG00000169189.17	transcript	ENST00000361439.9	protein_coding	2/7			chr16	TogoVar
NSMCE2_chr8_125086860_125372120	125327684	T T	TAAAAGTA others(357): Show TAAAAGTAAGATTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA ATTAGCCGGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGTAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	244	0.0041	364	c.419 others(383): Show c.419-29521_419-29520insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGGAG ATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAAAAATTAGCCGGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTG TAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACA GAGCGAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAGTAAGATTTC	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(357): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCCTCCCCTCCCCCTTCCCCTCCCCTCTCCCCTTCCCCTC CCCTCCCCCTTCCCCTCCCCCTCCCCCTCCCCCTTCCCCTTCCCTCTCCC CTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0179 a0001c0001t0004g0179	1	326	0.0031	364	c.433 others(381): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGGAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGGAGGGGAAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NTM_chr11_131365615_132341822	132069284	T T	TCAGCCAA others(357): Show TCAGCCAAGTTAACACGTCAAACTGACCGTCACCGGTTAGTTAACACGTC ACACAGCCAAGTTAACACGTCAAACTGACCGTCACAGGTTAGTTAACACG TCACACAGTCAAGTTAACACGTCACACTGACCGTCACAGGTTAGTTAACA CGTCACCCAGCCAAGTTAACACGTCACACTGACCGTCACAGGTTAGTTAA CACGTCACACAGCCAGGTTAACACGTCACACTGACCGTCACAGGTTAGTT AACACGTCACACAGCCAAGTTAACACGTCAAACTGACCGTCACAGGTTAG TTAACACGTCACACAGCCAAGTTAACACGTCACACTGACCGTCACAGGTT AGTTAACACGTCACC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0048 a0001c0001t0013g0048	1	86	0.0116	364	c.168 others(383): Show c.168-76979_168-76978insAACTGACCGTCACCGGTTAGTTAACA CGTCACACAGCCAAGTTAACACGTCAAACTGACCGTCACAGGTTAGTTAA CACGTCACACAGTCAAGTTAACACGTCACACTGACCGTCACAGGTTAGTT AACACGTCACCCAGCCAAGTTAACACGTCACACTGACCGTCACAGGTTAG TTAACACGTCACACAGCCAGGTTAACACGTCACACTGACCGTCACAGGTT AGTTAACACGTCACACAGCCAAGTTAACACGTCAAACTGACCGTCACAGG TTAGTTAACACGTCACACAGCCAAGTTAACACGTCACACTGACCGTCACA GGTTAGTTAACACGTCACCCAGCCAAGTTAACACGTCA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
OR2AJ1_chr1_247919889_247940339	247937455	C C	CCTCCTCC others(357): Show CCTCCTCCCCTGCCATCAGCAGCTCAGGGATGGGGCTGGCTCTGGGGCCT CCTCTTCCATCAACCCCTCAGCTACGGGGCTGGTTCAGGGGACTCCTCCC CTGCCATCAGCAGCTCAGGGATGGGGCTGGCTCTGGGGCCTCCTCTTCCA TCAACCCCTCAGCTACGGGGCTGGTTCAGGGGACTCCTCCCCTGCCATCA GCAGCTCAGGGATGGGGCTGGCTCTGGGGCCTCCTCTTCCATCAACCCCT CAGCTACGGGGCTGGTTCAGGGGACTCCTCCCCTGCCATCAGCAGCTCAG GGATGGGGCTGGCTCTGGGGCCTCCTCTTCCATCAACCCCTCAGCTACGG GGCTGGTTCAGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 NA18906.hp2 HG03516.hp1 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0006 a0004c0006t0006 a0001c0001t0006 a0004c0006t0006	a0001c0001t0006g0037 a0004c0006t0006g0091 a0001c0001t0006g0037 a0004c0006t0006g0091	2	432	0.0046	364	c.27 others(375): Show c.2700_*2701insCTCCTCCCCTGCCATCAGCAGCTCAGGGATGGGG CTGGCTCTGGGGCCTCCTCTTCCATCAACCCCTCAGCTACGGGGCTGGTT CAGGGGACTCCTCCCCTGCCATCAGCAGCTCAGGGATGGGGCTGGCTCTG GGGCCTCCTCTTCCATCAACCCCTCAGCTACGGGGCTGGTTCAGGGGACT CCTCCCCTGCCATCAGCAGCTCAGGGATGGGGCTGGCTCTGGGGCCTCCT CTTCCATCAACCCCTCAGCTACGGGGCTGGTTCAGGGGACTCCTCCCCTG CCATCAGCAGCTCAGGGATGGGGCTGGCTCTGGGGCCTCCTCTTCCATCA ACCCCTCAGCTACGGGGCTGGTTCAGGGGA	OR2AJ1	ENSG00000177275.4	transcript	ENST00000318244.4	protein_coding		2117		chr1	TogoVar
OR4K14_chr14_20009143_20024307	20016135	A A	ACTGAATG others(357): Show ACTGAATGTACATTATTATTATTATTATTATTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGG	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	438	0.0023	364	c.-29 others(379): Show c.-29-914_-29-913insCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(357): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTATTATT ATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	438	0.0023	364	c.-29 others(379): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATAATAATAAT AATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(357): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTATTATT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	438	0.0023	364	c.-29 others(379): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATAATAAT AATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(357): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA18952.hp1 NA18954.hp2 others(2): Show HG01981.hp2 NA18952.hp1 NA18954.hp2 NA18959.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	5	438	0.0114	364	c.-29 others(379): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAAT AATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(357): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02257.hp1 NA18956.hp2 HG00423.hp2 HG02257.hp1 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	3	438	0.0069	364	c.-29 others(379): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAT AATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(357): Show ACTGAATGTACATTATTATTATTATTATTATTATTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	438	0.0023	364	c.-29 others(379): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OSBPL5_chr11_3082107_3170310	3097061	A A	AAGAGGGG others(357): Show AAGAGGGGGAAGATGGGAAGGGGAGGAGAGGAAGGAGGGGGAAGATGGGA GGAGGAGAAGAGGAAAGGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGG AAGACGGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGAAGGAGAGGAA AGAGGGGGAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAG GAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGAAAAGAGGGGGAA GATGGGAGGGGGAGGAGAGGAAAGAGGGGGAAGACGGGAGGAGGAGGAGA GGAAAGGGGGAAGACGGGAGGAGGAGGACAGGAAAGAGGGGGAAGATGGG AGGAGAAGAGGAAAG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0291 a0002c0003t0001g0291	1	326	0.0031	364	c.162 others(383): Show c.1622-2728_1622-2727insCTTTCCTCTTCTCCTCCCATCTTCCC CCTCTTTCCTGTCCTCCTCCTCCCGTCTTCCCCCTTTCCTCTCCTCCTCC TCCCGTCTTCCCCCTCTTTCCTCTCCTCCCCCTCCCATCTTCCCCCTCTT TTCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCCATCTTC CCCCTCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTT CTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCCGTCTTCCCCCCTTTCC TCTCCTCCTCCCATCTTCCCCCCTTTCCTCTTCTCCTCCTCCCATCTTCC CCCTCCTTCCTCTCCTCCCCTTCCCATCTTCCCCCTCT	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	14/21			chr11	TogoVar
OSBPL5_chr11_3082107_3170310	3097061	A A	AAGAGGGG others(357): Show AAGAGGGGGAAGATGGGAAGGGGAGGAGAGGAAGGAGGGGGAAGATGGGA GGAGGAGAAGAGGAAAGGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGG AAGACGGGAGGAGGAGTGGAAAGAGGGGGAAGATGGGAGAAGGAGAGGAA AGAGGGGGAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAG GAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGAAAAGAGGGGGAA GATGGGAGGGGGAGGAGAGGAAAGAGGGGGAAGACGGGAGGAGGAGGAGA GGAAAGGGGGAAGACGGGAGGAGGAGGACAGGAAAGAGGGGAAAGATGGG AGGAGAAGAGGAAAG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0035 a0002c0003t0035	a0002c0003t0035g0220 a0002c0003t0035g0220	1	326	0.0031	364	c.162 others(383): Show c.1622-2728_1622-2727insCTTTCCTCTTCTCCTCCCATCTTTCC CCTCTTTCCTGTCCTCCTCCTCCCGTCTTCCCCCTTTCCTCTCCTCCTCC TCCCGTCTTCCCCCTCTTTCCTCTCCTCCCCCTCCCATCTTCCCCCTCTT TTCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCCATCTTC CCCCTCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTT CTCCCATCTTCCCCCTCTTTCCACTCCTCCTCCCGTCTTCCCCCCTTTCC TCTCCTCCTCCCATCTTCCCCCCTTTCCTCTTCTCCTCCTCCCATCTTCC CCCTCCTTCCTCTCCTCCCCTTCCCATCTTCCCCCTCT	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	14/21			chr11	TogoVar
OSBPL5_chr11_3082107_3170310	3097061	A A	AAGAGGGG others(357): Show AAGAGGGGGAAGATGGGAAGGGGAGGAGAGGAAGGAGGGGGAAGATGGGA GGAGGAGAAGAGGAAAGGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGG AAGACGGGAGGAGGAGTGGAAAGAGGGGGAAGATGGGAGAAGGAGAGGAA AGAGGGGGAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAG GAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGAAAAGAGGGGGAA GATGGGAGGGGGAGGAGAGGAAAGAGGGGGAAGACGGGAGGAGGAGGAGA GGAAAGGGGGAAGACGGGAGGAGGAGGACAGGAAAGAGGGGGAAGATGGG AGGAGAAGAGGAAAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01070.hp2 others(35): Show HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01175.hp2 HG01261.hp1 HG01346.hp2 HG01891.hp1 HG02055.hp2 HG02257.hp2 HG02559.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03453.hp2 HG03710.hp2 HG04184.hp1 HG06807.hp1 NA18906.hp1 NA18948.hp2 NA18956.hp2 NA18963.hp2 NA18964.hp2 NA18984.hp1 NA18999.hp1 NA19056.hp2 NA19064.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0003 a0004c0011 a0001c0002 a0002c0003 a0004c0011	a0001c0002t0001 a0002c0003t0001 a0002c0003t0003 others(6): Show a0001c0002t0001 a0002c0003t0001 a0002c0003t0003 a0002c0003t0006 a0002c0003t0014 a0002c0003t0016 a0002c0003t0033 a0002c0003t0034 a0004c0011t0003	a0001c0002t0001g0090 a0001c0002t0001g0096 a0002c0003t0001g0257 others(35): Show a0001c0002t0001g0090 a0001c0002t0001g0096 a0002c0003t0001g0257 a0002c0003t0003g0017 a0002c0003t0003g0021 a0002c0003t0003g0024 a0002c0003t0003g0025 a0002c0003t0003g0026 a0002c0003t0003g0072 a0002c0003t0003g0075 a0002c0003t0003g0098 a0002c0003t0003g0112 a0002c0003t0003g0116 a0002c0003t0003g0127 a0002c0003t0003g0131 a0002c0003t0003g0137 a0002c0003t0003g0146 a0002c0003t0003g0167 a0002c0003t0003g0169 a0002c0003t0003g0189 a0002c0003t0003g0190 a0002c0003t0003g0199 a0002c0003t0003g0237 a0002c0003t0003g0249 a0002c0003t0003g0263 a0002c0003t0003g0266 a0002c0003t0003g0312 a0002c0003t0006g0204 a0002c0003t0014g0095 a0002c0003t0014g0103 a0002c0003t0014g0210 a0002c0003t0016g0125 a0002c0003t0016g0183 a0002c0003t0033g0246 a0002c0003t0034g0264 a0004c0011t0003g0019 a0004c0011t0003g0134 a0004c0011t0003g0135	38	326	0.1166	364	c.162 others(383): Show c.1622-2728_1622-2727insCTTTCCTCTTCTCCTCCCATCTTCCC CCTCTTTCCTGTCCTCCTCCTCCCGTCTTCCCCCTTTCCTCTCCTCCTCC TCCCGTCTTCCCCCTCTTTCCTCTCCTCCCCCTCCCATCTTCCCCCTCTT TTCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCCATCTTC CCCCTCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTT CTCCCATCTTCCCCCTCTTTCCACTCCTCCTCCCGTCTTCCCCCCTTTCC TCTCCTCCTCCCATCTTCCCCCCTTTCCTCTTCTCCTCCTCCCATCTTCC CCCTCCTTCCTCTCCTCCCCTTCCCATCTTCCCCCTCT	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	14/21			chr11	TogoVar
OSGIN1_chr16_83948240_83971332	83950478	T T	TACATGCA others(357): Show TACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACA CGTACACGCACACATGAGCACATGTGCACACATGCACATACATACTGGCA CACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATACT GGCACACACGTACACACACATGCACACATGAGCACATGCGCACACATGCA CATACATACTGGCACACGTACATGCACACATGAGCACATGTGCACACATG CACATACAGGCACACGTACACGCACACATGAGCACATGTGCACACATGCA CATACATACTGGCACACGTACATGCACACATGAGCACATGTGCACACATG CACATACATACTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	350	0.0029	364	c.-29 others(375): Show c.-2925_-2924insACATGCACACATGAGCACATGTGCACACATGCAC ATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACACATGC ACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACAC ATGCACATACATACTGGCACACACGTACACACACATGCACACATGAGCAC ATGCGCACACATGCACATACATACTGGCACACGTACATGCACACATGAGC ACATGTGCACACATGCACATACAGGCACACGTACACGCACACATGAGCAC ATGTGCACACATGCACATACATACTGGCACACGTACATGCACACATGAGC ACATGTGCACACATGCACATACATACTGGC	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2761		chr16	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(357): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGG GGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGG GAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGG GGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGG GAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGG GAGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAG GGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	302	0.0033	364	c.155 others(381): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCC CCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCC CTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCC CTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCC TCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCC CTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCC CCCCTCCCCCCTCCCCTCCCCTCCCCTTCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(357): Show TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATAACATATATGTATT ACATATATGTATTACATATATAACATATATGTATTACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTAATACATATATAACA TATATGTATTACATATATGTAATACATATATAACATGTATTACATATATG TAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	400	0.0025	364	c.70 others(375): Show c.7084_*7085insATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TAACATATATGTATTACATATATGTATTACATATATAACATATATGTATT ACATATATGTATTACATATATAACATATATGTATTACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT AATACATATATAACATATATGTATTACATATATGTAATACATATATAACA TGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(357): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT AATACATATATAACATATATGTATTACATATATGTAATACATATATAACA TATATGTATTACATATATGTATTACATATATAACATGTATTACATATATG TAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	400	0.0025	364	c.70 others(375): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATAACATATATGTATTACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTAATACATATATAACATATATGTATTACATATATGT AATACATATATAACATATATGTATTACATATATGTATTACATATATAACA TGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PCBP3_chr21_45638725_45947450	45746666	C C	CACACGGT others(357): Show CACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACAC GGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGG TGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCA GCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATC GCCGTGTCAGTCCACTGACGTAGCGCCACATGGTGGTGTCAGCATCGCCG TGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGT CAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGTCAG TCCACTGACGTAGCG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18985.hp2 NA19087.hp1 NA18955.hp1 NA18985.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0144 a0001c0001t0001g0173 a0001c0001t0001g0131 a0001c0001t0001g0144 a0001c0001t0001g0173	3	292	0.0103	364	c.-16 others(383): Show c.-161-8751_-161-8750insACACGGTGGTGTCAGCATCGCCGTGT CAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTC CATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTG ACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTA GCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCC ACATGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACG GTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTG TTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17			chr21	TogoVar
PCBP3_chr21_45638725_45947450	45746666	C C	CACACGGT others(357): Show CACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACAC GGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGG TGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCA GCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATC GCCGTGTCAGTCCATTGACGTAGCGCCACATGGTGGTGTCAGCATCGCCG TGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGT CAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGTCAG TCCACTGACGTAGCG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03225.hp2 NA19030.hp1 HG02572.hp2 HG03225.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084	3	292	0.0103	364	c.-16 others(383): Show c.-161-8751_-161-8750insACACGGTGGTGTCAGCATCGCCGTGT CAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTC CATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTG ACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTA GCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCC ACATGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACG GTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTG TTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17			chr21	TogoVar
PCBP3_chr21_45638725_45947450	45910104	C C	CCCCGCCC others(357): Show CCCCGCCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATACG GACCCGGCCCACCCACTGCCCAGATACGGACCTGGCCACCCACTGCCCAG ATACGGACCCGGCCACCCACTGCCCAGATACAGACCCGGCCCACCCACTG CCCAGATATGGACCCCCCCAACCCACTTCCCAGATACGGACCCCCCCACA CACACTTCCCAGATACGGACCCCCCCACACACACTTCCCAGATACGGACC CCCCTCACCTGCTTCCCAAATATGGACCTGGCCCACCCACTGCCCAGATA TGGACCCCCCCCACCACTGCCCAGATACGGACCCCCCCCCACCCACTTCC CAGATATGGACCTGG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA19056.hp1 NA18940.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0288 a0001c0001t0002g0229 a0001c0001t0001g0288 a0001c0001t0002g0229	2	292	0.0069	364	c.471 others(379): Show c.471+620_471+621insCGCCCACTGCCCAGATACGGACCCCCCCCG CCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCT GGCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACAG ACCCGGCCCACCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCCAG ATACGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCCACACACA CTTCCCAGATACGGACCCCCCTCACCTGCTTCCCAAATATGGACCTGGCC CACCCACTGCCCAGATATGGACCCCCCCCACCACTGCCCAGATACGGACC CCCCCCCACCCACTTCCCAGATATGGACCTGGCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45927331	T T	TCCTCCCC others(357): Show TCCTCCCCTCCTGCCCTCCTCCTCCTTCACTCTGCCTCCTCCCTCCCCTC CTCTCCTCTCCCTCCCTCTCCCCCTCCTCCCTCCTCTCTCCTCTCCCTCC CTCCCTCTCCCCCTACTTCCTCCCCTCCTGCCCTCCTCTCCCTCCCCTCC TGTCCCTCCCTCCCCTCCTGTCCCTCCCTCCCCTCCTGTCCCTCCCTCCC CTCCTGCCTTCCTCTTTCCTCCCTCTCCCCTCCCTCTCCCCCTCCTCCCT CCTCTCCTCTCTCCCCTCCCTCCCTCTCCCCCTCCTCCCTCCTCTCCTCT CCCCTCCCTCACTCTCCCCCTCCTCCCTCCTCTCCTCTCTCCCCTCCCTC ACTCTCCCCCTCCTC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	292	0.0034	364	c.718 others(381): Show c.718-2575_718-2574insGCCCTCCTCCTCCTTCACTCTGCCTCCT CCCTCCCCTCCTCTCCTCTCCCTCCCTCTCCCCCTCCTCCCTCCTCTCTC CTCTCCCTCCCTCCCTCTCCCCCTACTTCCTCCCCTCCTGCCCTCCTCTC CCTCCCCTCCTGTCCCTCCCTCCCCTCCTGTCCCTCCCTCCCCTCCTGTC CCTCCCTCCCCTCCTGCCTTCCTCTTTCCTCCCTCTCCCCTCCCTCTCCC CCTCCTCCCTCCTCTCCTCTCTCCCCTCCCTCCCTCTCCCCCTCCTCCCT CCTCTCCTCTCCCCTCCCTCACTCTCCCCCTCCTCCCTCCTCTCCTCTCT CCCCTCCCTCACTCTCCCCCTCCTCCCTCCCCTCCT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45927331	T T	TCCTCCCC others(357): Show TCCTCCCCTCCTGCCCTCCTCTCCTTCACTCTGCCTCCTCCCTCCCCTCC TCTCCTCTCCCTCCCTCTCCCCCTCCTCCCTCCTCTCTCCTCTCCCTCCC TCCCTCTCCCCCTACTTCCTCCCCTCCTGCCCTCCTCTCCCTCCCCTCCT GTCCCTCCCTCCCCTCCTGTCCCTCCCTCCCCTCCTGTCCCTCCCTCCCC TCCTGCCTTCCTCTTCCTCCCTCTCCCTCCCTCTCCCCCCTCCTCCCTCC TCTCCTCTCTCCCCTCCCTCCCTCTCCCCCTCCTCCCTCCTCTCCTCTCC CCTCCCTCACTCTTCCCCCTCCTCCCTCCTTCTCCTCTCTCCCCTCCCTC ACTCTCCCCCTCCTC	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	292	0.0034	364	c.718 others(381): Show c.718-2575_718-2574insGCCCTCCTCTCCTTCACTCTGCCTCCTC CCTCCCCTCCTCTCCTCTCCCTCCCTCTCCCCCTCCTCCCTCCTCTCTCC TCTCCCTCCCTCCCTCTCCCCCTACTTCCTCCCCTCCTGCCCTCCTCTCC CTCCCCTCCTGTCCCTCCCTCCCCTCCTGTCCCTCCCTCCCCTCCTGTCC CTCCCTCCCCTCCTGCCTTCCTCTTCCTCCCTCTCCCTCCCTCTCCCCCC TCCTCCCTCCTCTCCTCTCTCCCCTCCCTCCCTCTCCCCCTCCTCCCTCC TCTCCTCTCCCCTCCCTCACTCTTCCCCCTCCTCCCTCCTTCTCCTCTCT CCCCTCCCTCACTCTCCCCCTCCTCCCTCCCCTCCT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(357): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATAGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	436	0.0023	364	c.-26 others(375): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCTATA GATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTA TAGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(357): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 NA18959.hp2 NA18965.hp1 others(2): Show HG02027.hp1 NA18959.hp2 NA18965.hp1 NA18988.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	5	436	0.0115	364	c.-26 others(375): Show c.-2680_-2679insGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(357): Show AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	436	0.0023	364	c.-26 others(375): Show c.-2680_-2679insGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842878	A A	ATGTATCT others(357): Show ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	436	0.0023	364	c.-26 others(375): Show c.-2690_-2689insCCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCGATAGATACA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2224		chr20	TogoVar
PDCD10_chr3_167678298_167739892	167684952	A A	AAAAATAT others(357): Show AAAAATATATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0089 a0001c0001t0004g0089	1	284	0.0035	364	c.558 others(379): Show c.558-564_558-563insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAGAATATATTTT	PDCD10	ENSG00000114209.15	transcript	ENST00000392750.7	protein_coding	8/8			chr3	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(357): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCCTTTCCACCTCCCCCCTCCACC TCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCT ACACCTCCCCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACC CTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCT CCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTC CCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCAC CTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	360	0.0028	364	c.35 others(375): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCCTTTCCA CCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCC CCTCACCTCCCCCCTACACCTCCCCCCTCACCCTCCACCTCCCCCCGCAC CCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCC CCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCC CTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCC ACCTCCCCCCTCCACCTCCCCCCTCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(357): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCCTTTCCACCTCCCCCCTCCACC TCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCT ACACCTCCCCCCTCACCCTCCACCTCCCGCCCTCACCCTCCACCTCCCCC CGCACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCT CCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTC CCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCAC CTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0268 a0002c0004t0003g0268	1	360	0.0028	364	c.35 others(375): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCCTTTCCA CCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCC CCTCACCTCCCCCCTACACCTCCCCCCTCACCCTCCACCTCCCGCCCTCA CCCTCCACCTCCCCCCGCACCCTGCACCTCCCCCCATCTTTTACCTCCCC CCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCC CTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCC ACCTCCCCCCTCCACCTCCCCCCTCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PDE4D_chr5_58964038_59898726	59434007	T T	TTCTTTAG others(357): Show TTCTTTAGGATGTTCCTAAAGAAGTCTCATCTTTAGGATGTTCCTAAAGA AGTCTCATCTTTAGGATGTTCCTAAAGAAGTCTCATCTTTAGGATGTTCC TAAAGAAGTCTCATCTTTAGGATGTTCCTAAAGAAGTCTCATCTTTAGGA TGTTCCTAAAGAAGTCTCATCTTTAGGATGTTCCTAAAGAAGTCTCATCT TTAGGATGTTCCTAAAGAAGTCTCATCTTTAGGATGTTCCTAAAGAAGTC TCATCTTTAGGATGTTCCTAAAGAAGTCTCATCTTTAGGATGTTCCTAAA GAAGTCTCATCTTTAGGATGTTCCTAAAGAAGTCTCATCTTTAGGATGTT CCTAAAGAAGTCTCA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0074 a0001c0005t0004g0074	1	74	0.0135	364	c.456 others(385): Show c.456-218040_456-218039insTGAGACTTCTTTAGGAACATCCTA AAGATGAGACTTCTTTAGGAACATCCTAAAGATGAGACTTCTTTAGGAAC ATCCTAAAGATGAGACTTCTTTAGGAACATCCTAAAGATGAGACTTCTTT AGGAACATCCTAAAGATGAGACTTCTTTAGGAACATCCTAAAGATGAGAC TTCTTTAGGAACATCCTAAAGATGAGACTTCTTTAGGAACATCCTAAAGA TGAGACTTCTTTAGGAACATCCTAAAGATGAGACTTCTTTAGGAACATCC TAAAGATGAGACTTCTTTAGGAACATCCTAAAGATGAGACTTCTTTAGGA ACATCCTAAAGATGAGACTTCTTTAGGAACATCCTAAAGA	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14			chr5	TogoVar
PGAM5_chr12_132705842_132727734	132718452	G G	GGTCCTGG others(357): Show GGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCC TGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGG GTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGG GTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCG TGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTG GGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGG GGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGC ATGCTGGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0210 a0001c0001t0003g0210	1	394	0.0025	364	c.719 others(379): Show c.719+345_719+346insGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG GTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCG TGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTG GGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGGGTGG GGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGC GTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCT GGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTG GGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAM5_chr12_132705842_132727734	132718575	G G	GGTCCTGG others(357): Show GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCC TGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGT GGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGG GGGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTC CTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTG GGTGGGGGGTCCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGG GGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGC GTGCTGGGTGGGGGT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0195 a0001c0001t0047g0195	1	394	0.0025	364	c.719 others(379): Show c.719+499_719+500insGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG GTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTC CTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGT GGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGG GGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGTGT CCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCT GGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTG GGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIGZ_chr3_196941356_196973833	196948941	T T	TCCCCTCC others(357): Show TCCCCTCCCCTCCCTTCCTTCCCTTCCCCTCCCCTCCCTTCCCTTCCTTC CCTTCCCCTCCCCTCCCTTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCTT CCCTTCCTTCCCTCCCTTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCTTC CCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCCCTCCCCT CCCTTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTT CCTTCCCTTTACTTCTCTTCCCCTCCCCTCCCTTCCCTTCCTTTCCTTTA CTTCCCTTCCTTCCCCTCCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCCT CCCCTCCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG03453.hp1 HG02280.hp1 HG02572.hp2 HG03453.hp1	a0002 a0008 a0002 a0008	a0002c0005 a0008c0034 a0002c0005 a0008c0034	a0002c0005t0001 a0008c0034t0001 a0002c0005t0001 a0008c0034t0001	a0002c0005t0001g0099 a0008c0034t0001g0013 a0002c0005t0001g0099 a0008c0034t0001g0013	3	424	0.0071	364	c.212 others(379): Show c.212-257_212-256insGAAGGAAGGGAGGGGAGGGGAAGGGAAGGA AGGGAAGGAAGGGAGGGGAGGGGAAGGAAGGGAAGTAAAGGAAAGGAAGG GAAGGGAGGGGAGGGGAAGAGAAGTAAAGGGAAGGAAGGGAAGGAAGGGA AGGAAGGGAAGGAAGGAAGGGAAGGAAGGGAAGGGAGGGGAGGGGAAGGG AAGGAAGGGAAGGAAGGGAAGGAAGGGAAGGAAGGGAAGGAAGGGAAGGA AGGAAGGGAAGGAAGGGAAGGGAGGGAAGGAAGGGAAGGAAGGGAAGGAA GGAAGGGAAGGAAGGGAAGGGAGGGGAGGGGAAGGGAAGGAAGGGAAGGG AGGGGAGGGGAAGGGAAGGAAGGGAGGGGAGGGG	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding	2/2			chr3	TogoVar

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