Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PERM1_chr1_970198_987093	977065	C C	CAACCCCG others(211): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAA CCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	408	0.0025	218	c.215 others(235): Show c.2150-442_2150-441insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTT CCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977444	C C	CCAACCCG others(211): Show CCAACCCGGGAACCGCCTCCCACTCCCCCCCACCAACCCCGGGAACCGCC TGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCC GGGAACCGCCTCCCACTCCCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAA CCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	408	0.0025	218	c.215 others(235): Show c.2150-821_2150-820insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCG GGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGCGGGGGCAGGCGGTTCC CGGGGTTGGTGGGGGGGAGTGGGAGGCGGTTCCCGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PID1_chr2_229018973_229276287	229184848	G G	GTATATAT others(211): Show GTATATATATATATCCCGTATATATATATATCCCGTATATATATATCCCG TATATATATATCCCGTATATATATCCCGTATATATATATATCCCGTATAT ATATATCCCGTATATATATATATCCCGTATATATATATCCCGTATATATA TATATCCCGTATATATATCCCGTATATATATATATCCCGTATATATATCC CGTATATATATATCCCGTA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0160 a0001c0001t0003g0160	1	256	0.0039	218	c.31- others(235): Show c.31-28885_31-28884insTACGGGATATATATATACGGGATATATA TACGGGATATATATATATACGGGATATATATACGGGATATATATATATAC GGGATATATATATACGGGATATATATATATACGGGATATATATATACGGG ATATATATATATACGGGATATATATACGGGATATATATATACGGGATATA TATATACGGGATATATATATATACGGGATATATATATATA	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	1/2			chr2	TogoVar
PIEZO1_chr16_88710338_88790220	88713163	T T	TGCCCCTG others(211): Show TGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCT GAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCC CCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTC CCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTTCCCCGGG CCCTGACCCCCACTCATGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0001 a0002c0018t0001	a0002c0018t0001g0213 a0002c0018t0001g0213	1	282	0.0036	218	c.24 others(229): Show c.2441_*2442insGCATGAGTGGGGGTCAGGGCCCGGGGAAAGGGGG GCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCA GGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGCAT GAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGG GGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2174		chr16	TogoVar
PIEZO2_chr18_10665247_11154569	10782366	A A	AATAATTA others(211): Show AATAATTATATAATATATTATAATTATATATAAATAATTATATAATATAT TATAATTATATATAAATAATTATATAATATATTACAATTATATATAAATA ATTATATAATATATTACAATTATATATAAATAATTATATAATATATTACA ATTATATATAAATAATTATATAATATATTATAATTATATATATAATTATA ATATATTATAATTATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0019 a0019	a0019c0030 a0019c0030	a0019c0030t0001 a0019c0030t0001	a0019c0030t0001g0079 a0019c0030t0001g0079	1	158	0.0063	218	c.249 others(237): Show c.2493-2001_2493-2000insATATATAATTATAATATATTATAATT ATATATATAATTATAATATATTATATAATTATTTATATATAATTGTAATA TATTATATAATTATTTATATATAATTGTAATATATTATATAATTATTTAT ATATAATTGTAATATATTATATAATTATTTATATATAATTATAATATATT ATATAATTATTTATATATAATTATAATATATTATATAATTAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	17/55			chr18	TogoVar
PJA2_chr5_109329722_109414974	109340619	C C	CCTCTCCC others(211): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02683.hp1 NA19057.hp2 HG02040.hp2 HG02683.hp1 NA19057.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0002 a0003c0003t0002g0100 a0003c0003t0002g0119 a0003c0003t0002g0002 a0003c0003t0002g0100 a0003c0003t0002g0119	3	346	0.0087	218	c.200 others(237): Show c.2002-3264_2002-3263insAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PKD2L1_chr10_100283149_100335228	100314975	G G	GGGAAGGG others(211): Show GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAGGGGAAGGGAGGGGAGGGGAGGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0227 a0009c0014t0001g0227	1	306	0.0033	218	c.349 others(237): Show c.349+14235_349+14236insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCTTCCCCTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100314983	G G	GGGAAGGG others(211): Show GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02135.hp1 NA18998.hp2 HG02080.hp2 HG02135.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0126 a0001c0001t0001g0199 a0001c0001t0001g0077 a0001c0001t0001g0126 a0001c0001t0001g0199	3	306	0.0098	218	c.349 others(237): Show c.349+14227_349+14228insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PLEKHN1_chr1_961482_980865	977444	C C	CCAACCCG others(211): Show CCAACCCGGGAACCGCCTCCCACTCCCCCCCACCAACCCCGGGAACCGCC TGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCC GGGAACCGCCTCCCACTCCCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAA CCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	218	c.28 others(229): Show c.2869_*2870insCAACCCGGGAACCGCCTCCCACTCCCCCCCACCA ACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CACCAACCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1580		chr1	TogoVar
PLXNB2_chr22_50269979_50312646	50274865	C C	CTCCCAAC others(211): Show CTCCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTC CCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCAGCACCCCTCCCAG CCCCCTCCACCTCCCCCAGCACCACCCCCAGCCCCCTCCACCTCCCCCAG CATCCCTCCCAGCCCCCTCCACCTTTCCCAGCACCCTTCCCAGCCCCCTC CACCTCCCCACAGCTCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0041 a0003c0041	a0003c0041t0003 a0003c0041t0003	a0003c0041t0003g0074 a0003c0041t0003g0074	1	302	0.0033	218	c.83 others(227): Show c.838_*839insTGGGAGCTGTGGGGAGGTGGAGGGGGCTGGGAAGGG TGCTGGGAAAGGTGGAGGGGGCTGGGAGGGATGCTGGGGGAGGTGGAGGG GGCTGGGGGTGGTGCTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGG GGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGG GAGGGGTGCTGGGGGGAGGTGGGGGGTTGGGA	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		113		chr22	TogoVar
PPFIA2_chr12_81252975_81764350	81642686	T T	TTATATAC others(211): Show TTATATACATACATGTATGTATATATTATATACATACATGTATGTATATA TTATATACATACATGTATGTATATATTATATACATACATGTATGTATATA TTATATACATACATGTATGTATATATTATATACATAATGTATGTATATAA TATATACATAATGTATGTATATAATATATACATAATGTATGTATATATTA TATACATACATGTATATAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	168	0.0060	218	c.303 others(237): Show c.303+34104_303+34105insTTATATACATGTATGTATATAATATA TACATACATTATGTATATATTATATACATACATTATGTATATATTATATA CATACATTATGTATATAATATATACATACATGTATGTATATAATATATAC ATACATGTATGTATATAATATATACATACATGTATGTATATAATATATAC ATACATGTATGTATATAATATATACATACATGTATGTATATA	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
PPP6R2_chr22_50338327_50450090	50397547	A A	AGGGGGGC others(211): Show AGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGG AGTGTGACTTGGGATGCTGGGGGGCAGGGGGCCTGTCCTCACCAGCCCTG TCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGG GCCTGTCCTCACCAGCCTTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTG TGACTTGGGATGGGGGCAG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	340	0.0029	218	c.227 others(235): Show c.227+3417_227+3418insGCCTGTCCTCACCAGCCCTGTCATCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGCTGGGGGGCAGGGGGCCT GTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTT GGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCCCTCTGAGC TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRKN_chr6_161342417_162732766	162010624	A A	ATATAATA others(211): Show ATATAATATATATTATATAATATATTATATTATATAATATATATTATATA ATATATTATATAATATATAATATAATATATAATATAATATATTATATAAT ATATTATATAATATATTATATATATTAATATTATATTATATATTATATAT ATTAATATTATATATTATATAATATATTATATATATTATACATTATATAA TATATATTATATAGTATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	32	0.0313	218	c.619 others(237): Show c.619-37208_619-37207insATATACTATATAATATATATTATATA ATGTATAATATATATAATATATTATATAATATATAATATTAATATATATA ATATATAATATAATATTAATATATATAATATATTATATAATATATTATAT AATATATTATATTATATATTATATTATATATTATATAATATATTATATAA TATATATTATATAATATAATATATTATATAATATATATTATA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11			chr6	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(211): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTGCTCCCCTC TCCTCCCCCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCTCCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCCCTCCCCTC CCCCTCCCTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03041.hp2 HG03831.hp2 HG02922.hp1 HG03041.hp2 HG03831.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0005 a0002c0003 a0003c0004 a0001c0005 a0002c0003 a0003c0004	a0001c0005t0001 a0002c0003t0002 a0003c0004t0001 a0001c0005t0001 a0002c0003t0002 a0003c0004t0001	a0001c0005t0001g0040 a0002c0003t0002g0075 a0003c0004t0001g0002 a0001c0005t0001g0040 a0002c0003t0002g0075 a0003c0004t0001g0002	3	94	0.0319	218	c.191 others(239): Show c.191-103924_191-103923insCTCTCCTCTCCTCTCCACTCCTCC CCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTGCTCC CCTCTCCTCCCCCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCCCTCC CCTCCCCCTCCCTCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRM_chr18_7562316_8411856	7985342	C C	CGTATATA others(211): Show CGTATATAAATATATACATATACTGGTATATACGTATATAAATATATACA TATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTA AATATATACATATACTGGTAGATACGTATATAAATATATACATATACTGG TAGATACGTAAATATATACATATACTGGTAGATACGTATATAAATATATA CATATACTGGTAGATACGT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	80	0.0125	218	c.113 others(239): Show c.1132+29928_1132+29929insGTATATAAATATATACATATACTG GTATATACGTATATAAATATATACATATACTGGTAGATACGTATATAAAT ATATACATATACTGGTAGATACGTAAATATATACATATACTGGTAGATAC GTATATAAATATATACATATACTGGTAGATACGTAAATATATACATATAC TGGTAGATACGTATATAAATATATACATATACTGGTAGATACGT	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32			chr18	TogoVar
RAB11FIP3_chr16_420649_528011	492486	C C	CTCCCCGG others(211): Show CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGTCCA GGGCCCTCCCCGGGAGACCCGAGGCCGTCCAGGGCCCTCCCCGGGAGACC CGAGGCCGTCCAGGGCCCT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0099 a0002c0003t0005g0099	1	295	0.0034	218	c.126 others(237): Show c.1265+3490_1265+3491insCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGTCCAGGGCCCTCCCCGGGAGACCCGAGGCCGTCCA GGGCCCTCCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB27A_chr15_55197966_55294813	55209923	C C	CACATATG others(211): Show CACATATGTGTGTATATATACGTATACACACATATGTGTGTATATATACG TATACACACATATGTGTGTATATACGTATACACACATATGTGTGTATATA CGTATATATACACACATATGTGTGTATATACGGATATACACACATATGTG TGTATATACGTATATACACACATGTGTGTATATACGTATATACACACATA TGTGTATATCCGTATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0126	1	320	0.0031	218	c.468 others(235): Show c.468-4219_468-4218insATATATACGGATATACACATATGTGTGT ATATACGTATATACACACATGTGTGTATATACGTATATACACACATATGT GTGTATATCCGTATATACACACATATGTGTGTATATATACGTATATACAC ACATATGTGTGTATACGTATATACACACATATGTGTGTATACGTATATAT ACACACATATGTGTGTATACGTATATATACACACATATGT	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
RAD17_chr5_69364818_69419801	69377646	T T	TATGCATA others(211): Show TATGCATATATATGCATATATATGTATGCATATATATATGCATATATATG TATACATATATATGCATATATATGTATACATATATATGCATATATATGTA TGCATATATATGTATACATATATATGCATATATATATGCATACATATATA TGCATATATATATGCATACATATATATGCATACATATATGCATGCATATA TATATGCATACATATATGC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	359	0.0028	218	c.351 others(235): Show c.351+2947_351+2948insGCATATATATGTATGCATATATATATGC ATATATATGTATACATATATATGCATATATATGTATACATATATATGCAT ATATATGTATGCATATATATGTATACATATATATGCATATATATATGCAT ACATATATATGCATATATATATGCATACATATATATGCATACATATATGC ATGCATATATATATGCATACATATATGCATGCATATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAI14_chr5_34651328_34837612	34665007	A A	ATATATAT others(211): Show ATATATATGTGTATATATATATGTGTATATATATATGTGTATATATATAT GTGTATATATATATGTGTATATATATATGTGTATATATATGTGTATATAT ATATGTGTATATATATATGTGTATATATATGTGTATATATATATGTGTAT ATATATATATGTGTATATATATATGTGTATATATATATGTGTATATATAT ATGTGTATATATATATGTG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0024 a0002c0002t0002g0024	1	254	0.0039	218	c.-49 others(235): Show c.-49+8539_-49+8540insGTGTATATATATATGTGTATATATATAT GTGTATATATATATGTGTATATATATATGTGTATATATATATGTGTATAT ATATGTGTATATATATATGTGTATATATATATGTGTATATATATGTGTAT ATATATATGTGTATATATATATATGTGTATATATATATGTGTATATATAT ATGTGTATATATATATGTGTATATATATATGTGTATATAT	RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAI14_chr5_34651328_34837612	34665007	A A	ATATATAT others(211): Show ATATATATGTGTATATATATATGTGTATATATATATGTGTATATATATAT GTGTATATATATATGTGTATATATATGTGTATATATATATGTGTATATAT ATATGTGTATATATATGTGTATATATATATGTGTATATATATATATGTGT ATATATATATGTGTATATATATATGTGTATATATATATGTGTATATATAT ATGTGTATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0241 a0002c0002t0014g0241	1	254	0.0039	218	c.-49 others(235): Show c.-49+8539_-49+8540insGTGTATATATATATGTGTATATATATAT GTGTATATATATATGTGTATATATATATGTGTATATATATGTGTATATAT ATATGTGTATATATATATGTGTATATATATGTGTATATATATATGTGTAT ATATATATATGTGTATATATATATGTGTATATATATATGTGTATATATAT ATGTGTATATATATATGTGTATATATATATGTGTATATAT	RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(211): Show GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCA TCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTC CCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCCA TCCCCCATTCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCC CCCACCCCCATCCCCCACC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0253 a0001c0001t0003g0253	1	452	0.0022	218	c.757 others(233): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCAT CCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCC CGTCCCCATCCCCCATCCCCCATTCCCATCCCCCGTCCCCCATCTCCTGT CCCCCGTCCCCATCCCCCACCCCCATCCCCCACCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RGSL1_chr1_182445146_182565597	182465082	A A	AATAATAA others(211): Show AATAATAATAATATTATATTATTTTTATATATTTTATATATATATATATA TTTAATTTTATATATATATTATTTTTATATATATATATTATTATATATAT AATATAATAATATTATATTATAATAATAATATTTATATATTTTATATATA TATAATTTTATATATATATTATTTTTATATATATATATTATTATATATAT AATATAATAATATTATATT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03471.hp1 HG02922.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0197 a0001c0001t0001g0198	2	338	0.0059	218	c.301 others(235): Show c.301+4961_301+4962insTTATATTATTTTTATATATTTTATATAT ATATATATATTTAATTTTATATATATATTATTTTTATATATATATATTAT TATATATATAATATAATAATATTATATTATAATAATAATATTTATATATT TTATATATATATAATTTTATATATATATTATTTTTATATATATATATTAT TATATATATAATATAATAATATTATATTATAATAATAATA	RGSL1	ENSG00000121446.20	transcript	ENST00000294854.13	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
RGSL1_chr1_182445146_182565597	182465082	A A	AATAATAA others(211): Show AATAATAATAATATTATATTATTTTTATATATTTTATATATATATATATT TAATTTTATATATATATTATTTTTATATATATATATATTATTATATATAT AATATAATAATATTATATTATAATAATAATATTTATATATTTTATATATA TATAATTTTATATATATATTATTTTTATATATATATATTATTATATATAT AATATAATAATATTATATT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	338	0.0030	218	c.301 others(235): Show c.301+4961_301+4962insTTATATTATTTTTATATATTTTATATAT ATATATATTTAATTTTATATATATATTATTTTTATATATATATATATTAT TATATATATAATATAATAATATTATATTATAATAATAATATTTATATATT TTATATATATATAATTTTATATATATATTATTTTTATATATATATATTAT TATATATATAATATAATAATATTATATTATAATAATAATA	RGSL1	ENSG00000121446.20	transcript	ENST00000294854.13	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNASE10_chr14_20500537_20518884	20505258	T T	TCCTCTCC others(211): Show TCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0081 a0003c0003t0081	a0003c0003t0081g0143 a0003c0003t0081g0143	1	396	0.0025	218	c.-76 others(227): Show c.-767_-766insCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		278		chr14	TogoVar
RNF149_chr2_101270601_101313701	101292416	T T	TCAAAGAT others(211): Show TCAAAGATTTGATTCAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGC CTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC GGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGT CCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAACAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0191 a0003c0003t0006g0191	1	378	0.0027	218	c.780 others(235): Show c.780+1597_780+1598insTTTTGTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGAC TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCC ACCGCGCCCGGCTAATTTTTTGTATTGAATCAAATCTTTG	RNF149	ENSG00000163162.9	transcript	ENST00000295317.4	protein_coding	3/6			chr2	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTATATAG others(211): Show CTATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTACATCT ATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0235 a0011c0011t0001g0235	1	426	0.0024	218	c.22 others(229): Show c.2236_*2237insTATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTACATCTATATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2042		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTATATAG others(211): Show CTATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATATATAGATACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 NA18948.hp2 NA19010.hp2 HG02004.hp1 NA18948.hp2 NA19010.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0011 a0001c0001 a0011c0011	a0001c0001t0001 a0011c0011t0001 a0001c0001t0001 a0011c0011t0001	a0001c0001t0001g0199 a0011c0011t0001g0225 a0011c0011t0001g0226 a0001c0001t0001g0199 a0011c0011t0001g0225 a0011c0011t0001g0226	3	426	0.0070	218	c.22 others(229): Show c.2236_*2237insTATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATATATAGATACATCTATA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2042		chr13	TogoVar
RNF213_chr17_80255852_80403794	80355524	G G	GAGGAAGA others(211): Show GAGGAAGAAGTGGGGTGACCGGGAATGGGGGCTTACAGGGGAAGAAGCGG GGTGAATGGGAATGGGGGCTCACGGAGGAAGAAGCGGGGTGGACGGGAAT CGGGGCTCACGGAGGAAGAGGGGTGACCGGGAATGGGGGCTCACAGAGGA AGAAGCGGGGTGACCGGGAATGGGGGCTCACAGAGGAAGAAGTGGGGTGA CCGGGAATGGGGGCTTACA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18966.hp2 NA18952.hp2 NA18966.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0003 a0007c0008t0008 a0007c0008t0003 a0007c0008t0008	a0007c0008t0003g0199 a0007c0008t0008g0078 a0007c0008t0003g0199 a0007c0008t0008g0078	2	292	0.0069	218	c.108 others(237): Show c.10862+948_10862+949insAGGAAGAAGTGGGGTGACCGGGAATG GGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTCACGGAG GAAGAAGCGGGGTGGACGGGAATCGGGGCTCACGGAGGAAGAGGGGTGAC CGGGAATGGGGGCTCACAGAGGAAGAAGCGGGGTGACCGGGAATGGGGGC TCACAGAGGAAGAAGTGGGGTGACCGGGAATGGGGGCTTACA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67			chr17	TogoVar
RORA_chr15_60483284_61234302	61071569	A A	AGGGAGGG others(211): Show AGGGAGGGGATAAGAAGGGAGAGGGGAGGAGAGAGGGGAGGGAAGAGGTG GGGATAAGAAGGGAGAGGGGAGGAGAGAGGGGAAGGGAGGAGAGAGGGGA AGGGAGGGGAGGGGGAAGGGGTGGGGATGGAAGGGGAGGGGAAAGGGGAG GGGTAGGGAGGGGAGAGGGGAGGGGTGGGGAGGGGAGGGGAGGGGTGGGG AGGGGAGAGGAGGGGAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0036 a0001c0002t0003g0036	1	118	0.0085	218	c.166 others(239): Show c.166+157483_166+157484insCTCTCCCCTCCTCTCCCCTCCCCA CCCCTCCCCTCCCCTCCCCACCCCTCCCCTCTCCCCTCCCTACCCCTCCC CTTTCCCCTCCCCTTCCATCCCCACCCCTTCCCCCTCCCCTCCCTTCCCC TCTCTCCTCCCTTCCCCTCTCTCCTCCCCTCTCCCTTCTTATCCCCACCT CTTCCCTCCCCTCTCTCCTCCCCTCTCCCTTCTTATCCCCTCCC	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPSA2_chr19_23758004_23833868	23761922	T T	TCCTTCCT others(211): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0151 a0003c0003t0005g0151	1	366	0.0027	218	c.-15 others(229): Show c.-1515_-1514insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1081		chr19	TogoVar
RTP5_chr2_241864729_241878823	241877980	C C	CCCCATCC others(211): Show CCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCC ATCCCTCTCCTCGCTCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCCGGC CCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCC CCAACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCAA CCCCATCCCTCTCCTCGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0005	a0005c0005t0005g0005 a0005c0005t0005g0005	1	365	0.0027	218	c.47 others(229): Show c.4706_*4707insCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGG CCGCCCCCCAACCCCATCCCTCTCCTCGCTCCCATCCCTCTCCTCGCTCC CCTCCCTCTCCCGGCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCC TCTCCTGGCCGCCCCCCAACCCCATCCCTCTCCTCGCTCCCCTCCCTCTC CTGGCCGCCCCCCAACCCCATCCCTCTCCTCGCT	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4158		chr2	TogoVar
SARDH_chr9_133658560_133743352	133668588	C C	CTCTCCCC others(211): Show CTCTCCCCTTACCCTCCCCCTCCCTCACCCTCCCTCTCCCTCACCCTCCC TCTCCCCTCGCCCTCCCTCTCCCCTCACCCTCATCCTCCCTCTCCCTCAC CCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCATC CTCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTT GCCTCTCCCTCACCCTCCA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0106 a0001c0011t0003g0106	1	262	0.0038	218	c.249 others(237): Show c.2496-1719_2496-1718insTGGAGGGTGAGGGAGAGGCAAGGTGA GGGAGAGGGAGGGTAAGGGAGAGGGAAGGAGAGAGAGAGGGAGGATGAGG GAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGG AGAGGGAGGATGAGGGTGAGGGGAGAGGGAGGGCGAGGGGAGAGGGAGGG TGAGGGAGAGGGAGGGTGAGGGAGGGGGAGGGTAAGGGGAGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCARA5_chr8_27864883_27997673	27918942	G G	GGAAGGAG others(211): Show GGAAGGAGGAGGGGAAGGAGGAGGAGGGGAAGGAGGAGGAGGAGAAGGAG GAGGAGGAGAAGGAGGAGGAGGAAGAGGAGGAGGAGGGGAAGGAAGAGGA GGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAGGAAGAGAAAAGGA GGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAGGGGAAGGAGGAGG AGGGGAAGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0229 a0001c0004t0003g0229	1	314	0.0032	218	c.916 others(235): Show c.916+2628_916+2629insTCCTCCTCCTCCTTCCCCTCCTCCTCCT TCCCCTCCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTCCTTTTCT CTTCCTCCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTTCC TTCCCCTCCTCCTCCTCTTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTC CTCCTCCTCCTTCCCCTCCTCCTCCTTCCCCTCCTCCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCGB1C1_chr11_188078_199575	194918	T T	TCCCCCAC others(211): Show TCCCCCACAGAGGGACACACAAATGGGGACATCAGGAACACACTCGGGGC CACAGCCACACACACAGACCCACACACAGAGGATCCCACTCAAGGAGCAC ACGTGCAAAAGTCCCCACAGAGGGGCACACAAGTGGGGACATCAGGAACA CAGGGCCACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAAG GAGCACACGTGCGAAAGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	354	0.0028	218	c.46 others(227): Show c.468_*469insCCCCCACAGAGGGACACACAAATGGGGACATCAGGA ACACACTCGGGGCCACAGCCACACACACAGACCCACACACAGAGGATCCC ACTCAAGGAGCACACGTGCAAAAGTCCCCACAGAGGGGCACACAAGTGGG GACATCAGGAACACAGGGCCACAGCCACACACACAGACCCACATACAGAG GATCCCACTCAAGGAGCACACGTGCGAAAGTC	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		344		chr11	TogoVar
SCGB1C1_chr11_188078_199575	194918	T T	TCCCCCAC others(211): Show TCCCCCACAGAGGGACACACAAATGGGGACATCAGGAACACACTCGGGGC CACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAAGGAGCAC ACGTGCAAAAGTCCCCACAGAGGGGCACACAAGTGGGGACATCAGGAACA CAGGGCCACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAAG GAGCACACGTGCGAAAGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00544.hp1 others(39): Show HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG02040.hp2 HG02080.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02683.hp2 HG02698.hp1 HG03041.hp1 HG03704.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp1 NA18747.hp1 NA18953.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18971.hp2 NA18979.hp1 NA19011.hp2 NA19056.hp1 NA19062.hp1 NA19065.hp1 NA19066.hp1 NA19075.hp1 NA19076.hp2 NA19080.hp1 NA19084.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0013 others(1): Show a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0013 a0001c0002t0001g0014	42	354	0.1186	218	c.46 others(227): Show c.468_*469insCCCCCACAGAGGGACACACAAATGGGGACATCAGGA ACACACTCGGGGCCACAGCCACACACACAGACCCACATACAGAGGATCCC ACTCAAGGAGCACACGTGCAAAAGTCCCCACAGAGGGGCACACAAGTGGG GACATCAGGAACACAGGGCCACAGCCACACACACAGACCCACATACAGAG GATCCCACTCAAGGAGCACACGTGCGAAAGTC	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		344		chr11	TogoVar
SCGB1C1_chr11_188078_199575	194918	T T	TCCCCCAC others(211): Show TCCCCCACAGAGGGACACACAAATGGGGACATCAGGAACACACTCGGGGC CACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAAGGAGCAC ACGTGCAAAAGTCCCCACAGAGGGGCACACAAGTGGGGACATCAGGAACA CAGGGCCACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAAG GAGCACACGTGCGTAAGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00423.hp2 others(107): Show HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG01071.hp2 HG01081.hp2 HG01123.hp2 HG01175.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01515.hp1 HG01517.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02145.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18942.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18952.hp2 NA18953.hp1 NA18957.hp2 NA18959.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18972.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp2 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18992.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0001 a0001c0003t0001 a0001c0005t0001	a0001c0003t0001g0003 a0001c0003t0001g0011 a0001c0003t0001g0012 others(4): Show a0001c0003t0001g0003 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0015 a0001c0005t0001g0004 a0001c0005t0001g0010 a0001c0005t0001g0016	110	354	0.3107	218	c.46 others(227): Show c.468_*469insCCCCCACAGAGGGACACACAAATGGGGACATCAGGA ACACACTCGGGGCCACAGCCACACACACAGACCCACATACAGAGGATCCC ACTCAAGGAGCACACGTGCAAAAGTCCCCACAGAGGGGCACACAAGTGGG GACATCAGGAACACAGGGCCACAGCCACACACACAGACCCACATACAGAG GATCCCACTCAAGGAGCACACGTGCGTAAGTC	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		344		chr11	TogoVar
SCGB1C1_chr11_188078_199575	194921	C C	CCCACAGA others(211): Show CCCACAGAGGGACACACAAATGGGGACATCAGGAACACACTCGGGGCCAC AGCCACACACACAGACCCACATACAGAGGATCCCACTCAAGGAGCACACG TGCAAAAGTCCCCACAGAGGGGCACACAAGTGGGGACATCAGGAACACAG GGCCACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAAGGAG CACACGTGCGTAAGTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	1	354	0.0028	218	c.47 others(227): Show c.471_*472insCCACAGAGGGACACACAAATGGGGACATCAGGAACA CACTCGGGGCCACAGCCACACACACAGACCCACATACAGAGGATCCCACT CAAGGAGCACACGTGCAAAAGTCCCCACAGAGGGGCACACAAGTGGGGAC ATCAGGAACACAGGGCCACAGCCACACACACAGACCCACATACAGAGGAT CCCACTCAAGGAGCACACGTGCGTAAGTCCCT	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		347		chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(211): Show GGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGT GGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGT GAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTG GGGTGGGGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01106.hp1 HG01192.hp2 others(12): Show HG00099.hp1 HG01106.hp1 HG01192.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG02004.hp2 HG02109.hp1 HG02486.hp1 HG02486.hp2 HG03017.hp1 HG03491.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0021 a0001 a0021	a0001c0001 a0021c0025 a0001c0001 a0021c0025	a0001c0001t0001 a0021c0025t0001 a0001c0001t0001 a0021c0025t0001	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0187 others(12): Show a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0021c0025t0001g0256	15	290	0.0517	218	c.464 others(231): Show c.464+91_464+92insTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAG GGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(211): Show GGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGT GGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGTGTTGAGTGAGGGGGGTGGGGTGTTGGGT GAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTG GGGTGGGGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0205 a0001c0009t0001g0205	1	290	0.0035	218	c.464 others(231): Show c.464+91_464+92insTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGTGTTGAGTGAGGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAG GGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1284173	G G	GGGTTGAG others(211): Show GGGTTGAGTGAGGGGTCGGGGGGGGTTGGGTGAGGGGGGTGGGGTGTTGG GTGAGGGGTCGGGGGGGGTTGAGTGAGGGGGGTGGGGGGTTGGGTGGGGG GTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGTTGGGTG AGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGG GGGGTTGGGTGAGGGGGGT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0010 a0004c0005t0010	a0004c0005t0010g0124 a0004c0005t0010g0124	1	290	0.0035	218	c.464 others(231): Show c.464+85_464+86insTTGAGTGAGGGGTCGGGGGGGGTTGGGTGAGG GGGGTGGGGTGTTGGGTGAGGGGTCGGGGGGGGTTGAGTGAGGGGGGTGG GGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGG GGTGGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTG GGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(211): Show TTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGG GTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGG GGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGG TTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGG GGGGGTTGAGTGAGGGGGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	290	0.0035	218	c.464 others(231): Show c.464+91_464+92insTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAG GGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288275	C C	CCGTGTCT others(211): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0102 a0002c0002t0001g0102	1	290	0.0035	218	c.166 others(235): Show c.1662+239_1662+240insGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289044	T T	TCTGCTCC others(211): Show TCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCG TGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCCCCGTCCCGTGTCC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0009 a0009c0014t0001g0009	1	290	0.0035	218	c.166 others(237): Show c.1662+1029_1662+1030insCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289727	C C	CCGTGTCT others(211): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0120 a0002c0003t0004g0120	1	290	0.0035	218	c.166 others(235): Show c.1663-543_1663-542insGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289785	C C	CCGTGTCT others(211): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCG TCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	290	0.0035	218	c.166 others(235): Show c.1663-485_1663-484insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289854	C C	CCCCGTGT others(211): Show CCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0220 a0003c0004t0003g0220	1	290	0.0035	218	c.166 others(235): Show c.1663-413_1663-412insTGTCTCTGCTCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTC TCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCG TGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGPP2_chr2_222419543_222567621	222556658	T T	TCCCTCCC others(211): Show TCCCTCCCCCTCCACCTTCACTCTTCCCCCCCACTCCTCCCCATCCACCC TCACTCCTCCCCCATCCACCCTCACTCCTCCCCATCCACCCTCACTCCTC CCCACCGCACCCTCACTCCTTCCCCATCCACCCTCACTCCTCCCCATCCA CCCTCACTCCTTCCCCATCCACCCTCACTCCTCCCCATCCACCTCACTCC TCCCCACCCACCCTCACAT	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0051 a0001c0001t0044g0051	1	272	0.0037	218	c.649 others(235): Show c.649-1687_649-1686insCTCCCCCTCCACCTTCACTCTTCCCCCC CACTCCTCCCCATCCACCCTCACTCCTCCCCCATCCACCCTCACTCCTCC CCATCCACCCTCACTCCTCCCCACCGCACCCTCACTCCTTCCCCATCCAC CCTCACTCCTCCCCATCCACCCTCACTCCTTCCCCATCCACCCTCACTCC TCCCCATCCACCTCACTCCTCCCCACCCACCCTCACATCC	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHISA5_chr3_48462876_48509174	48486344	G G	GTATTATA others(211): Show GTATTATATATTATATAATATATAATGTATTATATATTATATAATATATA ATATATAATGTATTATATATTATATAATATATAATATATAATGTATTATA TATTATATAATATATAATATATAATGTATTATATATTATATAATATATAA TATATAATGTATTATATATTATATAATATATAATATATAATACATTATTT ATTATATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	290	0.0035	218	c.234 others(235): Show c.234-7088_234-7087insATATTATATATTATATAATAAATAATGT ATTATATATTATATATTATATAATATATAATACATTATATATTATATATT ATATAATATATAATACATTATATATTATATATTATATAATATATAATACA TTATATATTATATATTATATAATATATAATACATTATATATTATATATTA TATAATATATAATACATTATATATTATATAATATATAATA	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(211): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0068 a0001c0001t0074g0068	1	214	0.0047	218	c.691 others(237): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(211): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	214	0.0047	218	c.691 others(237): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar

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