Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
P2RX5_chr17_3668227_3701155	3685848	C C	CCCCCCGC others(182): Show CCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGA CCCTCCCAACGTCCCCCTCCCAGCCTCAGAACAGGAGAACGCACAGCGGG ACCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAA CGCACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01981.hp2 HG02523.hp1 others(1): Show HG01934.hp1 HG01981.hp2 HG02523.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0103 a0001c0001t0001g0254 others(1): Show a0001c0001t0001g0083 a0001c0001t0001g0103 a0001c0001t0001g0254 a0001c0001t0001g0274	4	340	0.0118	189	c.981 others(206): Show c.981+2163_981+2164insCGGGGGACGTTGGGAGGGTCCCTGGGGG TCCCGCTGTGCGTTCTCCTGTTCTCAGGCTGGGAGGGGGACGTTGGGAGG GTCCCTGGGGGTCCCGCTGTGCGTTCTCCTGTTCTGAGGCTGGGAGGGGG ACGTTGGGAGGGTCCCTGGGGGCCCAGCTGTGCGTTCTCCTGTTCTGAGG CTGGGCGGGGG		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
PACS2_chr14_105309748_105403147	105349924	T T	TGCAGGAC others(182): Show TGCAGGACCCCGAGAACTTCCAGGAGTGCGTGGCTAATAGCAGGACCCCG AGAACTTCCAGGAGAGCGTGGCTAATGCAGGACCCCGAGAACTTCCAGGA GAGCGTGGCTAATAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCTAA TAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCTAATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	159	0.0063	189	c.207 others(206): Show c.207+1369_207+1370insTGCGTGGCTAATAGCAGGACCCCGAGAA CTTCCAGGAGAGCGTGGCTAATGCAGGACCCCGAGAACTTCCAGGAGAGC GTGGCTAATAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCTAATAGC AGGACCCCGAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCCCGAGA ACTTCCAGGAG		PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr14	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(182): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGG GAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGG GGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGG GGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0036	1	62	0.0161	189	c.155 others(206): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCTTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTC CCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCC CTTCCCTTCCC		PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14						chr11	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(182): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGGGAGGGG AGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGG GGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02809.hp1 HG03486.hp2 others(1): Show HG02258.hp2 HG02809.hp1 HG03486.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 others(1): Show a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210	4	65	0.0615	189	c.155 others(206): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCC TCCCCCTCCCCTCCCCTCCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCC CTTCCCTTCCC		PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14						chr11	TogoVar
PCBP3_chr21_45638725_45947450	45746946	G G	GCACACGG others(182): Show GCACACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCA CACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACAC GGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGT GTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0088 a0001c0004t0002g0088	1	99	0.0101	189	c.-16 others(208): Show c.-161-8458_-161-8457insGTCAGCATCGCCGTGTCAGTCCACTG ACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACG TAGCGCACACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAG CGCACACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGC CACACGGTGTTGT		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCLO_chr7_82749012_83167884	82999547	A A	ATAATATG others(182): Show ATAATATGTAATATTAAATATAAAATATAATATGTAATATTAAATATAAA ATATAATATGTAATATTATATATAAAATATAATATGTAATATTATATATA AAATATAATATGTAATATTATATATAAAATATAATATGTAATATTATATA TAAAATATAATATGTAATATTATATATAAAATATAATATG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0038 a0038	a0038c0050 a0038c0050	a0038c0050t0008 a0038c0050t0008	a0038c0050t0008g0073 a0038c0050t0008g0073	1	173	0.0058	189	c.330 others(210): Show c.3301-33061_3301-33060insCATATTATATTTTATATATAATAT TACATATTATATTTTATATATAATATTACATATTATATTTTATATATAAT ATTACATATTATATTTTATATATAATATTACATATTATATTTTATATATA ATATTACATATTATATTTTATATTTAATATTACATATTATATTTTATATT TAATATTACATATTA		PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24						chr7	TogoVar
PCLO_chr7_82749012_83167884	82999572	A A	ATAATATG others(182): Show ATAATATGTAATATTAAATATAAAATATAATATGTAATATTAAATATAAA ATATAATATGTAATATTAAATATAAAATATAATATGTAATATTAAATATA AAATATAATATGTAATATTAAATATAAAATATAATATGTAATATTATATA TAAAATATAATATGTAATATTATATATAAAATATAATATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02486.hp1 HG03139.hp1 others(2): Show HG01243.hp1 HG02486.hp1 HG03139.hp1 HG03540.hp2 NA20129.hp2	a0001 a0013 a0017 others(2): Show a0001 a0013 a0017 a0041 a0051	a0001c0001 a0013c0079 a0017c0046 others(2): Show a0001c0001 a0013c0079 a0017c0046 a0041c0049 a0051c0035	a0001c0001t0001 a0013c0079t0002 a0017c0046t0010 others(2): Show a0001c0001t0001 a0013c0079t0002 a0017c0046t0010 a0041c0049t0002 a0051c0035t0002	a0001c0001t0001g0148 a0013c0079t0002g0114 a0017c0046t0010g0039 others(2): Show a0001c0001t0001g0148 a0013c0079t0002g0114 a0017c0046t0010g0039 a0041c0049t0002g0061 a0051c0035t0002g0058	5	113	0.0442	189	c.330 others(210): Show c.3301-33086_3301-33085insCATATTATATTTTATATATAATAT TACATATTATATTTTATATATAATATTACATATTATATTTTATATTTAAT ATTACATATTATATTTTATATTTAATATTACATATTATATTTTATATTTA ATATTACATATTATATTTTATATTTAATATTACATATTATATTTTATATT TAATATTACATATTA		PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24						chr7	TogoVar
PCLO_chr7_82749012_83167884	82999648	A A	ATAATATG others(182): Show ATAATATGTAATATTAAATATAAAATATAATATGTAATATTAAATATAAA ATATAATATGTAATATTAAATATAAAATATAATATGTAATATTAAATATA AAATATAATATGTAATATTAAATATAAAATATAATATGTAATATTAAATA TAAAATATAATATGTAATATTATATATAAAATATAATATG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0050 a0050	a0050c0045 a0050c0045	a0050c0045t0008 a0050c0045t0008	a0050c0045t0008g0080 a0050c0045t0008g0080	1	51	0.0196	189	c.330 others(210): Show c.3301-33162_3301-33161insCATATTATATTTTATATATAATAT TACATATTATATTTTATATTTAATATTACATATTATATTTTATATTTAAT ATTACATATTATATTTTATATTTAATATTACATATTATATTTTATATTTA ATATTACATATTATATTTTATATTTAATATTACATATTATATTTTATATT TAATATTACATATTA		PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24						chr7	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(182): Show CAAAGAAAGACAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGG AAAAGAAAAGAAAAAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0159 a0002c0002t0001g0159	1	202	0.0050	189	c.20- others(204): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTCTTTTTTT CTTTTCTTTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTTTCTG TCTTTCTTT		PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12						chr2	TogoVar
PDXK_chr21_43714129_43767299	43741151	G G	GGCGGGGG others(182): Show GGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGG GGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT GGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGG GGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	305	0.0033	189	c.143 others(204): Show c.143-508_143-507insGCTCGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT CGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGCTGGCGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCT CGCGGGGGG		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PERM1_chr1_970198_987093	977845	C C	CCACCAAC others(182): Show CCACCAACCCCGGGAACCGCCTCCCACTCCCCCCCACCAACCCGGGAACC GCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCA CTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0175 a0001c0001t0005g0175	1	222	0.0045	189	c.214 others(208): Show c.2149+1035_2149+1036insCGGGGGGAGTGGGAGGCGGTTCCCGG GGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGA GGCGGTTCCCGGGGTTGGTGGCGGGGGCAGGCGGTTCCCGGGGTTGGTGG GGGGAGTGGGAGGCGGTTCCCGGGTTGGTGGGGGGGAGTGGGAGGCGGTT CCCGGGGTTGGTG		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3						chr1	TogoVar
PLEKHN1_chr1_961482_980865	977845	C C	CCACCAAC others(182): Show CCACCAACCCCGGGAACCGCCTCCCACTCCCCCCCACCAACCCGGGAACC GCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCA CTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	228	0.0044	189	c.32 others(200): Show c.3270_*3271insCACCAACCCCGGGAACCGCCTCCCACTCCCCCCC ACCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCC GGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCC CCCCG		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1981		chr1	TogoVar
PLXNB2_chr22_50269979_50312646	50274726	T T	TCCCCCCA others(182): Show TCCCCCCAGCACCCCTCCCAACCCCCCCACCTCCCCCCAGCACCCCTCCC AACCCCCCCAACCTCCCCCCCAGCACCCCTCCAGCCCCCTCCACCTCCCG CAGCACCCCCCTCCCAGCCCCCTTCCACCTCCCCCAGCACCCCTCCCATC CCACCTCCCCCCAGCACCCCTCCTCCAAGCCCCCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0003 a0002c0013t0003	a0002c0013t0003g0165 a0002c0013t0003g0165	1	247	0.0040	189	c.97 others(198): Show c.977_*978insGAGGTGGGGGGCTTGGAGGAGGGGTGCTGGGGGGAG GTGGGATGGGAGGGGTGCTGGGGGAGGTGGAAGGGGGCTGGGAGGGGGGT GCTGCGGGAGGTGGAGGGGGCTGGAGGGGTGCTGGGGGGGAGGTTGGGGG GGTTGGGAGGGGTGCTGGGGGGAGGTGGGGGGGTTGGGAGGGGTGCTGGG GGG		PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding					252		chr22	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(182): Show TTTATATATAATATATAATATATATTTATATATAATATAATATATATTAT ATATAAAAATATATTTATATATATTATATTATATATAATATATTATATAT ATTATATTATATATAATATATTATATATATTATATTATATATAATATATT ATATATATTATATTATATATAATATATTATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	31	0.0323	189	c.-50 others(200): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATAATATATATAATATATTATATATAA TATAATATATATAATATATTATATATAATATAATATATATAAATATATTT TTATATATAATATATATTATATTATATATAAATATATATTATATATTATA TATAA		PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding					4623		chrX	TogoVar
PPP1R16B_chr20_38800697_38928024	38895816	T T	TCCTCCTT others(182): Show TCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCT CCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTT CCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTT TCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0202 a0001c0002t0012g0202	1	166	0.0060	189	c.467 others(204): Show c.467+132_467+133insCCCTCCTTCCTTCTTTCTCTCCTCCCTTCC TCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTTCCCTCCC TCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCC TCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCT CTCCTCCCT		PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP1R16B_chr20_38800697_38928024	38895843	T T	TCCTCCTT others(182): Show TCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTTTCTCTCCT CCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTC TCCTCCCTTCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTT TCTTCCCTCCCTCCCTCCTTCCTTCTTTCTTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0118 a0001c0001t0011g0118	1	143	0.0070	189	c.467 others(204): Show c.467+177_467+178insCTCCTCCCTCCCTCCTTCCTTCTTTCTCTC CTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTC TTCCCTCCCTCCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTC TTTCTTCCCTCCCTCCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTC CTTCTTTCT		PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP1R16B_chr20_38800697_38928024	38895843	T T	TCCTCCTT others(182): Show TCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTTTCTTCCCT CCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTC TCCTCCCTTCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTT TCTTCCCTCCCTCCCTCCTTCCTTCTTTCTTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	143	0.0070	189	c.467 others(204): Show c.467+204_467+205insCTCCTCCCTTCCTCCTTCCTTCTTTCTCTC CTCCCTTCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTTTC TTCCCTCCCTCCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTC TTTCTTCCCTCCCTCCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTC CTTCTTTCT		PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
PRB4_chr12_11302077_11315436	11308619	T T	TTTCTGGC others(182): Show TTTCTGGCTTTCCTGGATGAGGTGGGGGACCTTGGGACTGGTTGCCTCCT TGTGGGGGTCGTCCTTCTGGCTTTCCTGGAGGAGGTGGGGTACCTTGGGA CTGGTTTCCTCCTTGTGGGGGTGGTCTTTCTGGCTTTCCTGGATGAGGTG GGGGACCTTGGGACTGGTTGCCTCCTTGTGGGGGTCGTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00621.hp1 HG01516.hp2 HG01934.hp1 others(43): Show HG00621.hp1 HG01516.hp2 HG01934.hp1 HG01993.hp1 HG02040.hp1 HG02056.hp2 HG02155.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp1 HG02818.hp1 HG02976.hp1 HG03130.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18940.hp2 NA18943.hp1 NA18946.hp2 NA18953.hp1 NA18954.hp1 NA18963.hp2 NA18964.hp1 NA18969.hp1 NA18970.hp1 NA18988.hp2 NA18990.hp2 NA18998.hp2 NA19004.hp1 NA19010.hp1 NA19010.hp2 NA19055.hp1 NA19068.hp1 NA19080.hp2 NA19083.hp2 NA19091.hp2 NA20805.hp2	a0003 a0012 a0003 a0012	a0003c0003 a0012c0016 a0003c0003 a0012c0016	a0003c0003t0001 a0012c0016t0001 a0003c0003t0001 a0012c0016t0001	a0003c0003t0001g0003 a0003c0003t0001g0011 a0003c0003t0001g0038 others(1): Show a0003c0003t0001g0003 a0003c0003t0001g0011 a0003c0003t0001g0038 a0012c0016t0001g0039	46	140	0.3286	189	c.363 others(196): Show c.363_364insGGACGACCCCCACAAGGAGGCAACCAGTCCCAAGGTCC CCCACCTCATCCAGGAAAGCCAGAAAGACCACCCCCACAAGGAGGAAACC AGTCCCAAGGTACCCCACCTCCTCCAGGAAAGCCAGAAGGACGACCCCCA CAAGGAGGCAACCAGTCCCAAGGTCCCCCACCTCATCCAGGAAAGCCAGA A	p.Glu others(202): Show p.Glu121_Arg122insGlyArgProProGlnGlyGlyAsnGlnSerGl nGlyProProProHisProGlyLysProGluArgProProProGlnGlyG lyAsnGlnSerGlnGlyThrProProProProGlyLysProGluGlyArg ProProGlnGlyGlyAsnGlnSerGlnGlyProProProHisProGlyLy sProGlu	PRB4	ENSG00000230657.8	transcript	ENST00000279575.7	protein_coding	3/4	401/923	363/744	121/247			chr12	TogoVar
PRPF31_chr19_54110754_54136713	54133762	C C	CCTCTCTC others(182): Show CCTCTCTCTCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCC CCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCC ACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	194	0.0052	189	c.23 others(200): Show c.2330_*2331insCTCTCTCTCTCCCTCTCCACCTCCCCTCTCTCCC TCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTC TCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCC ACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCT CCCCT		PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding					2050		chr19	TogoVar
RAB11FIP3_chr16_420649_528011	504249	T T	TCCTCCTG others(182): Show TCCTCCTGTACCCCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACC CCCTCAGCTCCTTGTGTACCCCTCACCTCCTGTACCCCCTCACCTCCTCC TGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGCACTCCC ATCTCCTCCTGTACCCCCTCAGCTCCTTGTGTACCCCTCA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0259 a0001c0002t0009g0259	1	195	0.0051	189	c.139 others(208): Show c.1395+1179_1395+1180insCACTCCCATCTCCTCCTGTACCCCCT CAGCTCCTTGTGTACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTA CCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGCACTCCCATCT CCTCCTGTACCCCCTCAGCTCCTTGTGTACCCCTCACCTCCTGTACCCCC TCACCTCCTCCTG		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	504269	T T	TCCTCCTG others(182): Show TCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCAGCTCCTTGTGTACC CCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCTTC CTGTACCCTTCACCTCCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCC TTGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0275 a0001c0002t0009g0275	1	262	0.0038	189	c.139 others(208): Show c.1395+1179_1395+1180insCACTCCCATCTCCTCCTGTACCCCCT CAGCTCCTTGTGTACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTA CCCCCCTCACCTCTTCCTGTACCCTTCACCTCCTCCTGTACCCCCTCACC TCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCACC CCCTCACCTCCTG		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	504279	C C	CTCCCATC others(182): Show CTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTC CTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCC TCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGT GCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01496.hp1 HG00735.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0012 a0001c0001t0006 a0001c0001t0012	a0001c0001t0006g0253 a0001c0001t0012g0233 a0001c0001t0006g0253 a0001c0001t0012g0233	2	148	0.0135	189	c.139 others(208): Show c.1395+1182_1395+1183insTCCCATCTCCTCCTGTACCCCCTCAC CTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACC CCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGCACTCCCATCTCCT CCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTC ACCTCCTCCTGTA		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13						chr16	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(182): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCATC CCCACCAGGCCCACCATCCCCATCAGGCTCACCAGGCCCACCATCCCCAC CAGGCCCACCAGGCCCACCATCCCCACCATCCCCACCAGG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	119	0.0084	189	c.397 others(202): Show c.397-73_397-72insCCTGGTGGGGATGGTGGGGATGGTGGGCCTGG TGGGCCTGGTGGGGATGGTGGGCCTGGTGAGCCTGATGGGGATGGTGGGC CTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGT GGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGA TGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(182): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCATC CCCACCAGGCCCACCATCCCCATCAGGCTCACCAGGCCCACCATCCCCAT CAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19058.hp1 NA19010.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0197 a0001c0001t0002g0198	2	120	0.0167	189	c.397 others(202): Show c.397-73_397-72insCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGG TGGGCCTGATGGGGATGGTGGGCCTGGTGAGCCTGATGGGGATGGTGGGC CTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGT GGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGA TGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(182): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG CCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCAC CATCCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18977.hp2 NA19012.hp2 others(1): Show NA18944.hp2 NA18977.hp2 NA19012.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0018 a0001c0001t0001g0021	4	122	0.0328	189	c.397 others(202): Show c.397-73_397-72insCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGG TGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGC CTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGT GGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGA TGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(182): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG CCCACCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCAC CAGGCCCACCAGGCCCACCATCCCCACCATCCCCACCAGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	119	0.0084	189	c.397 others(202): Show c.397-73_397-72insCCTGGTGGGGATGGTGGGGATGGTGGGCCTGG TGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGC CTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGT GGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGA TGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(182): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG CCCACCAGGCCCACCATCCCCATCAGGCCCACCAGGCCCACCATCCCCAC CAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	119	0.0084	189	c.397 others(202): Show c.397-73_397-72insCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGG TGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGATGGGGATGGTGGGC CTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGT GGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGA TGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(182): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG CCCACCAGGCCCACCATCCCCATCAGGCCCACCAGGCCCACCATCCCCAC CAGGCCCACCAGGCCCACCATCCCCATCAGGCCCACCAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00597.hp2 others(1): Show HG00099.hp1 HG00280.hp1 HG00597.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0122 a0001c0001t0001g0183 others(1): Show a0001c0001t0001g0106 a0001c0001t0001g0122 a0001c0001t0001g0183 a0001c0001t0001g0220	4	122	0.0328	189	c.397 others(202): Show c.397-73_397-72insCCTGGTGGGCCTGATGGGGATGGTGGGCCTGG TGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGATGGGGATGGTGGGC CTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGT GGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGA TGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(182): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG CCCACCAGGCCCACCATCCCCATCAGGCCCACCAGGCCCACCATCCCCAC CATCCCCACCAGGCCCACCATCCCCACCATCCCCACCAGG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01361.hp2 HG01346.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	2	120	0.0167	189	c.397 others(202): Show c.397-73_397-72insCCTGGTGGGGATGGTGGGGATGGTGGGCCTGG TGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGATGGGGATGGTGGGC CTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGT GGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGA TGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985746	C C	CCCCACCA others(182): Show CCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCA CCATCCCCACCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATC CCCACCAGGCCCACCAGGCCCACCATCCCCATCAGGCCCACCAGGCCCAC CATCCCCATCAGGCCCACCAGGCCCACCATCCCCATCAGG	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19066.hp2 NA19063.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0236 a0001c0001t0001g0189 a0001c0001t0001g0236	2	315	0.0063	189	c.397 others(202): Show c.397-82_397-81insCCTGATGGGGATGGTGGGCCTGGTGGGCCTGA TGGGGATGGTGGGCCTGGTGGGCCTGATGGGGATGGTGGGCCTGGTGGGC CTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGT GGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCC TGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985758	C C	CACCAGGC others(182): Show CACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCA GGCCCACCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCC ACCAGGCTCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCAT CCCCACCATCCCCACCAGGCCCACCATCCCCACCAGGCCT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01261.hp1 HG02735.hp1 others(1): Show HG01123.hp1 HG01261.hp1 HG02735.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0060 a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0060	4	303	0.0132	189	c.397 others(202): Show c.397-94_397-93insAGGCCTGGTGGGGATGGTGGGCCTGGTGGGGA TGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTG AGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCT GGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGG GCCTGGT		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985758	C C	CACCAGGC others(182): Show CACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCA GGCCCACCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCC ATCAGGCTCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCAT CCCCACCATCCCCACCAGGCCCACCATCCCCACCAGGCCT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02055.hp2 HG02074.hp1 others(6): Show HG00558.hp1 HG02055.hp2 HG02074.hp1 HG03831.hp1 HG04199.hp2 NA18612.hp2 NA18992.hp2 NA18995.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0025 a0001c0001t0002 a0001c0001t0025	a0001c0001t0002g0001 a0001c0001t0002g0019 a0001c0001t0002g0131 others(4): Show a0001c0001t0002g0001 a0001c0001t0002g0019 a0001c0001t0002g0131 a0001c0001t0002g0138 a0001c0001t0002g0232 a0001c0001t0002g0266 a0001c0001t0025g0286	9	308	0.0292	189	c.397 others(202): Show c.397-94_397-93insAGGCCTGGTGGGGATGGTGGGCCTGGTGGGGA TGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTG AGCCTGATGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCT GGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGG GCCTGGT		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAD21L1_chr20_1221044_1260876	1258170	C C	CATAAACA others(182): Show CATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCTT TCCTCTTTTCTAATATAAACACGTAAAGCTCTGTTTCCTTCTAGGTAACT GGTTTGAGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTC CTTCTAGGTAACTGATTTGAGATCTTCCCTCTTTTCTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01243.hp1 HG01943.hp1 others(5): Show HG00741.hp1 HG01243.hp1 HG01943.hp1 HG02602.hp1 HG02735.hp2 HG02886.hp2 HG03834.hp2 HG04228.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0015 a0002c0002 a0009c0015	a0002c0002t0002 a0002c0002t0004 a0002c0002t0013 others(1): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0013 a0009c0015t0004	a0002c0002t0002g0072 a0002c0002t0004g0098 a0002c0002t0004g0158 others(5): Show a0002c0002t0002g0072 a0002c0002t0004g0098 a0002c0002t0004g0158 a0002c0002t0004g0159 a0002c0002t0004g0160 a0002c0002t0004g0161 a0002c0002t0013g0073 a0009c0015t0004g0162	8	362	0.0221	189	c.37 others(200): Show c.3713_*3714insATAAACACATAAAGCTCTGTTTCCTTCTAGGTAA CTGATTTGAGATCTTTCCTCTTTTCTAATATAAACACGTAAAGCTCTGTT TCCTTCTAGGTAACTGGTTTGAGATCTTCCCTCTTTTCTAATATAAACAC ATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTCCCTCTTTT CTAAT		RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding					2295		chr20	TogoVar
RANBP10_chr16_67718070_67811560	67782758	T T	TCACTTTT others(182): Show TCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTA AAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCT CTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCC ATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01433.hp2 HG02559.hp1 others(13): Show HG00738.hp2 HG01433.hp2 HG02559.hp1 HG02735.hp1 HG03098.hp1 HG03139.hp1 HG03453.hp1 HG03579.hp1 HG03654.hp2 HG04199.hp2 NA18906.hp1 NA18991.hp2 NA18995.hp2 NA19055.hp2 NA19060.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0085 others(13): Show a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0034 a0001c0003t0001g0151	16	56	0.2857	189	c.348 others(208): Show c.348-10673_348-10672insGCTTTTAAGAGATGGCTCTTAAAAGT GGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAA AAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTC TTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATG GCTCTTAAAAGTG		RANBP10	ENSG00000141084.12	transcript	ENST00000317506.8	protein_coding	2/13						chr16	TogoVar
RFLNA_chr12_124290093_124321024	124320573	G G	GGTGGATG others(182): Show GGTGGATGACCTCTTTCTTTGGGGTAGGTGGGATGACCTCTTTCTTTGGG GTAGGTGGGATGACCTCTTTCTTTGGGGGTAGGTGGGATGACCTCTTTCT TTGGGGGTAGGTGGGATGACCTCTTTGGGGGTAGGTGAGATGACCTCTTT CTTTGGGGGTTGGTGGGATGACCTCTTTCTTTGGGGGTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0100 a0001c0002t0002g0100	1	380	0.0026	189	c.60 others(200): Show c.6048_*6049insGTGGATGACCTCTTTCTTTGGGGTAGGTGGGATG ACCTCTTTCTTTGGGGTAGGTGGGATGACCTCTTTCTTTGGGGGTAGGTG GGATGACCTCTTTCTTTGGGGGTAGGTGGGATGACCTCTTTGGGGGTAGG TGAGATGACCTCTTTCTTTGGGGGTTGGTGGGATGACCTCTTTCTTTGGG GGTAA		RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding					4550		chr12	TogoVar
RFX3_chr9_3213297_3531001	3504795	T T	TTATATGC others(182): Show TTATATGCTATATGGTATATATTGTATATAAATATATATTATATGCTATA TGGTATATATTGTATATAAAATATATATTATATGCTATATGGTATATATT GTATATAAAATATATATTATATGCTATATGGTATATATTGTATATAAAAT ATATATTATATGCTATATGGTATATATTGTATATAAAATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0194 a0001c0001t0026g0194	1	188	0.0053	189	c.-9+ others(206): Show c.-9+20951_-9+20952insTATTTTATATACAATATATACCATATAG CATATAATATATATTTTATATACAATATATACCATATAGCATATAATATA TATTTTATATACAATATATACCATATAGCATATAATATATATTTTATATA CAATATATACCATATAGCATATAATATATATTTATATACAATATATACCA TATAGCATATA		RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16						chr9	TogoVar
RGPD5_chr2_109789305_109862705	109823564	T T	TTTCTTTT others(182): Show TTTCTTTTCTTTTCTTTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT CTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0015 a0003c0003t0002g0015	1	40	0.0250	189	c.127 others(206): Show c.1277-648_1277-647insTTCTTTTCTTTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTCTTTTCTT		RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	9/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
RIPOR3_chr20_50581108_50696542	50609980	A A	ACCACCCC others(182): Show ACCACCCCTGCCTCCCCTGCCACCCCTGCCTCACCTGCCACCCCTGCCTC ACCTGCCACCCCTGCCTCACCTGCCACCCCTGCCTCCCCTGCCTCCCCTG CCACCCCTGCCTCACCTGCCACCCCTGCCTCCCCTGCCTCCCCTGCCACC CCTGCCTCACCTGCCACCCCTACCACCCCTGCCTCCCCTG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	116	0.0086	189	c.427 others(204): Show c.427-259_427-258insCAGGGGAGGCAGGGGTGGTAGGGGTGGCAG GTGAGGCAGGGGTGGCAGGGGAGGCAGGGGAGGCAGGGGTGGCAGGTGAG GCAGGGGTGGCAGGGGAGGCAGGGGAGGCAGGGGTGGCAGGTGAGGCAGG GGTGGCAGGTGAGGCAGGGGTGGCAGGTGAGGCAGGGGTGGCAGGGGAGG CAGGGGTGG		RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	6/21						chr20	TogoVar
RNF182_chr6_13919952_13985310	13925069	G G	GGGCGGGG others(182): Show GGGCGGGGTGGAGTGGGGTGGGGTGGGGTGGGGCGGGGCCCGCCCGGCTC GCGGAGGGAGGGGTGCCCGCACTCGGCTGCGCCCGAGTCCCCGGGGGCCC GTCCCCACCGAGGAAACGGACGGCGGCCGCCCCCGACGCCGCTGCCGCCG CCGCCGCCCCCGCCGCCCCCGCCGCCCCCGCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA20129.hp2 HG02145.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0030 a0001c0001t0029 a0001c0001t0030	a0001c0001t0029g0143 a0001c0001t0030g0144 a0001c0001t0029g0143 a0001c0001t0030g0144	2	89	0.0225	189	c.-36 others(204): Show c.-367+49_-367+50insGGGGTGGAGTGGGGTGGGGTGGGGTGGGGC GGGGCCCGCCCGGCTCGCGGAGGGAGGGGTGCCCGCACTCGGCTGCGCCC GAGTCCCCGGGGGCCCGTCCCCACCGAGGAAACGGACGGCGGCCGCCCCC GACGCCGCTGCCGCCGCCGCCGCCCCCGCCGCCCCCGCCGCCCCCGCCGC CCCCGCGGC		RNF182	ENSG00000180537.13	transcript	ENST00000488300.6	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
RNF214_chr11_117227671_117291454	117248244	A A	ATTTTTTT others(182): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTTGCTCTGTCACCCAGGCTGGAGTGCAGGGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCGCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	358	0.0028	189	c.959 others(206): Show c.959+1301_959+1302insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGGGGCG CGATCTCGGCTCACTGCAAGCTCCGCCTCGCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTT		RNF214	ENSG00000167257.11	transcript	ENST00000300650.9	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr11	TogoVar
RNFT2_chr12_116733315_116858631	116733346	T T	TTAATTTT others(182): Show TTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG03486.hp2 NA20300.hp2 HG02559.hp1 HG03486.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0011 a0001c0002t0002 a0001c0001t0002 a0001c0001t0011 a0001c0002t0002	a0001c0001t0002g0036 a0001c0001t0011g0033 a0001c0002t0002g0034 a0001c0001t0002g0036 a0001c0001t0011g0033 a0001c0002t0002g0034	3	239	0.0126	189	c.-51 others(200): Show c.-5178_-5177insTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGC		RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding					4968		chr12	TogoVar
ROCK2_chr2_11174759_11349636	11330945	G G	GGAGGAGG others(182): Show GGAGGAGGAGGGAGGATGGAGTAGGAGGGGGGAGGACGCAGTAGGAGGGG GGAGGAGGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGGGGAGGA GGGAGTAGGAGGGGGGAGGAGGACGAGGGAGGAAGAGGAAAGAGGAGGGA GTAGGAGGGGAGGAGGAGGGAGGAGGAAGGAGGAGTGGGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0271 a0001c0001t0004g0271	1	20	0.0500	189	c.141 others(208): Show c.141+13050_141+13051insTCCCACTCCTCCTTCCTCCTCCCTCC TCCTCCCCTCCTACTCCCTCCTCTTTCCTCTTCCTCCCTCGTCCTCCTCC CCCCTCCTACTCCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCCCCTCCTC CTCCCCCCTCCTCCCCCCTCCTACTGCGTCCTCCCCCCTCCTACTCCATC CTCCCTCCTCCTC		ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32						chr2	TogoVar
ROCK2_chr2_11174759_11349636	11330956	G G	GGGGGGAG others(182): Show GGGGGGAGGAGGAGGGAGGAGGGGGGGAGGAGGGGGGAGGACGCAGTAGG AGGGGGGAGGAGGGGGGAGGAGGAGGGGGAGGAGGGAGTAGGAGGGGGGA GGAGGACGAGGGAGGAAGAGGAAAGAGGAGGGAGTAGGAGGGGAGGAGGA GGGAGGAGGAAGGAGGAGTGGGAGGAGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0296 a0001c0001t0071g0296	1	4	0.2500	189	c.141 others(208): Show c.141+13039_141+13040insTCCCTCCTCCTCCCTCCTCCCACTCC TCCTTCCTCCTCCCTCCTCCTCCCCTCCTACTCCCTCCTCTTTCCTCTTC CTCCCTCGTCCTCCTCCCCCCTCCTACTCCCTCCTCCCCCTCCTCCTCCC CCCTCCTCCCCCCTCCTACTGCGTCCTCCCCCCTCCTCCCCCCCTCCTCC CTCCTCCTCCCCC		ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32						chr2	TogoVar
RPA1_chr17_1825005_1905082	1885952	A A	ATCTCCAT others(182): Show ATCTCCATTGAGCCCTCGGGTGAACAGGTGCATTGTCAATATATTAATCT CCTTGTACTGTGTGTCTCCATTGAGCCCTTGGGTGAACAGGTGCATTGTC AATATATTAATCTCCTTGTACTGTGTGTCTCCATTGAGCTCTTGTGTGAA CAGGTGCATTGTCAATATATTAATCTCCTCGTACTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02738.hp2 NA20752.hp2 HG00099.hp2 HG02738.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0042 a0001c0001t0002 a0001c0001t0042	a0001c0001t0002g0060 a0001c0001t0002g0113 a0001c0001t0042g0069 a0001c0001t0002g0060 a0001c0001t0002g0113 a0001c0001t0042g0069	3	400	0.0075	189	c.137 others(208): Show c.1374+2021_1374+2209dupCCTCGGGTGAACAGGTGCATTGTCAA TATATTAATCTCCTTGTACTGTGTGTCTCCATTGAGCCCTTGGGTGAACA GGTGCATTGTCAATATATTAATCTCCTTGTACTGTGTGTCTCCATTGAGC TCTTGTGTGAACAGGTGCATTGTCAATATATTAATCTCCTCGTACTGTGT GTCTCCATTGAGC		RPA1	ENSG00000132383.12	transcript	ENST00000254719.10	protein_coding	13/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPA3_chr7_7631518_7723607	7678637	G G	GATAAATA others(182): Show GATAAATATATATTTATATACTTAATTTATAGATAAATATATATTTATAT ATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTT ATATATTTAGTTTATAAATATATATTTATGTATTTAGTTTATAAATATAT ATTTATGTATTTAGTTTATAAATATTTATATATTTAGTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG03017.hp2 HG01256.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0171 a0001c0001t0001g0064 a0001c0001t0001g0171	2	286	0.0070	189	c.-75 others(208): Show c.-758+7192_-758+7193insAAACTAAATATATAAATATTTATAAA CTAAATACATAAATATATATTTATAAACTAAATACATAAATATATATTTA TAAACTAAATATATAAATATATATTTATAAACTAAATATATAAATATATA TTTATAAACTAAATATATAAATATATATTTATCTATAAATTAAGTATATA AATATATATTTAT		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RPA3_chr7_7631518_7723607	7678645	T T	TATATTTA others(182): Show TATATTTATATACTTAATTTATAGATAAATATATATTTATATATTTAGTT TATAAATATATATTTATATATTTAGTTTATAAATATATATTTATATATTT AGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATGT ATTTAGTTTATAAATATATATTTATGTATTTAGTTTATAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01496.hp2 HG02630.hp1 others(7): Show HG00733.hp1 HG01496.hp2 HG02630.hp1 HG02647.hp1 HG02809.hp1 HG02818.hp1 HG02965.hp1 HG03942.hp1 NA19012.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010	a0001c0001t0001g0011 a0001c0001t0001g0057 a0001c0001t0001g0108 others(7): Show a0001c0001t0001g0011 a0001c0001t0001g0057 a0001c0001t0001g0108 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0006g0185 a0001c0001t0006g0220 a0001c0001t0007g0174 a0001c0001t0010g0181	10	303	0.0330	189	c.-75 others(208): Show c.-758+7184_-758+7185insTTATAAACTAAATACATAAATATATA TTTATAAACTAAATACATAAATATATATTTATAAACTAAATATATAAATA TATATTTATAAACTAAATATATAAATATATATTTATAAACTAAATATATA AATATATATTTATAAACTAAATATATAAATATATATTTATCTATAAATTA AGTATATAAATAT		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(182): Show GGAGGAGGGAGGAGGAGGGAGGGAGGAGGAGGGAGGGAGAGGAGGGAGGG GGAGGAGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAAGAA GGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGAGGAAGGAGGAGAAGG AGGAGGAGGAGAAGGAGGAGGAGAAGGAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG01106.hp2 others(25): Show HG00280.hp2 HG00639.hp2 HG01106.hp2 HG01192.hp2 HG01255.hp1 HG01361.hp1 HG01884.hp2 HG01891.hp1 HG02135.hp2 HG02148.hp2 HG02572.hp1 HG02717.hp2 HG02970.hp2 HG03139.hp1 HG03516.hp1 NA18522.hp2 NA18906.hp1 NA18945.hp1 NA18966.hp1 NA18972.hp2 NA18974.hp1 NA19004.hp1 NA19010.hp2 NA19066.hp1 NA19078.hp2 NA19081.hp1 NA19088.hp1 NA19089.hp2	a0001 a0005 a0001 a0005	a0001c0003 a0001c0005 a0005c0010 a0001c0003 a0001c0005 a0005c0010	a0001c0003t0002 a0001c0005t0008 a0005c0010t0002 a0001c0003t0002 a0001c0005t0008 a0005c0010t0002	a0001c0003t0002g0012 a0001c0003t0002g0013 a0001c0003t0002g0021 others(23): Show a0001c0003t0002g0012 a0001c0003t0002g0013 a0001c0003t0002g0021 a0001c0003t0002g0046 a0001c0003t0002g0057 a0001c0003t0002g0058 a0001c0003t0002g0059 a0001c0003t0002g0060 a0001c0003t0002g0061 a0001c0003t0002g0082 a0001c0003t0002g0088 a0001c0003t0002g0090 a0001c0003t0002g0091 a0001c0003t0002g0093 a0001c0003t0002g0094 a0001c0003t0002g0095 a0001c0003t0002g0096 a0001c0003t0002g0097 a0001c0003t0002g0098 a0001c0003t0002g0101 a0001c0003t0002g0102 a0001c0003t0002g0104 a0001c0003t0002g0105 a0001c0003t0002g0106 a0001c0005t0008g0355 a0005c0010t0002g0110	28	29	0.9655	189	c.807 others(206): Show c.807-1376_807-1375insTTCTCCTCCTCCTCCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCCTCTTCTTCCTC TTCCTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCTCCCCCTCCC CCTCCCTCCTCCCCCTCCCTCCTCTCCCTCCCTCCTCCTCCCTCCCTCCT CCTCCCTCCTC		RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8						chr6	TogoVar
SART1_chr11_65956734_65985137	65971088	A A	AGCTGAGG others(182): Show AGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGAGGGTGGTGGGATT CATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0088 a0002c0001t0001g0088	1	253	0.0040	189	c.157 others(208): Show c.1572+3300_1572+3301insAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGAGGGTGGTGGGATTCATGAGCTGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGG GATTCATGAGCTG		SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971088	A A	AGCTGAGG others(182): Show AGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGGTGGTGGGATT CATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02132.hp2 NA18939.hp1 others(4): Show HG02074.hp1 HG02132.hp2 NA18939.hp1 NA18948.hp1 NA18988.hp1 NA19060.hp2 NA19080.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0025 a0002c0001t0001g0089 a0002c0001t0001g0090 others(3): Show a0002c0001t0001g0025 a0002c0001t0001g0089 a0002c0001t0001g0090 a0002c0001t0001g0091 a0002c0001t0001g0148 a0002c0001t0001g0155	7	259	0.0270	189	c.157 others(208): Show c.1572+3300_1572+3301insAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGGGGGTGGTGGGATTCATGAGCTGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGG GATTCATGAGCTG		SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971637	A A	AGCTGAGG others(182): Show AGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAG GAGGGGGGTGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02132.hp2 NA18948.hp1 others(3): Show HG02074.hp1 HG02132.hp2 NA18948.hp1 NA18988.hp1 NA19060.hp2 NA19080.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0025 a0002c0001t0001g0089 a0002c0001t0001g0090 others(2): Show a0002c0001t0001g0025 a0002c0001t0001g0089 a0002c0001t0001g0090 a0002c0001t0001g0091 a0002c0001t0001g0148	6	380	0.0158	189	c.157 others(208): Show c.1572+3840_1572+3841insCATGAGCTGAGGAGGGGGATGGTGGG ATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGG AGGGGGGTGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTC ATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGG GGATGGTGGGATT		SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19					INFO_REALIGN_3_PRIME	chr11	TogoVar

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