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
PRUNE2_chr9_76606376_76911114	76791365	A A	ATTATCAT others(167): Show ATTATCATTGGTACAATAATACTGCACCAGTTATCATTGGTACAATAATA CTGCACCAGTTATCATTGGTACAATAATACTGCACCAGTTATCATTGGTA CAATAATACTGCACCAGTTATCATTGGTACAATAATACTGCACCAGTTAT CATTGGTACAATAATACTGCACCAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18522.hp2 HG03195.hp2 NA18522.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0004 a0009c0010t0014 a0009c0010t0004 a0009c0010t0014	a0009c0010t0004g0013 a0009c0010t0014g0130 a0009c0010t0004g0013 a0009c0010t0014g0130	2	240	0.0083	174	c.756 others(193): Show c.756+32266_756+32267insCTGGTGCAGTATTATTGTACCAATGA TAACTGGTGCAGTATTATTGTACCAATGATAACTGGTGCAGTATTATTGT ACCAATGATAACTGGTGCAGTATTATTGTACCAATGATAACTGGTGCAGT ATTATTGTACCAATGATAACTGGTGCAGTATTATTGTACCAATGATAA	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
PRUNE2_chr9_76606376_76911114	76791394	A A	ATTATCAT others(167): Show ATTATCATTGGTACAATAATACTGCACCAGTTATCATTGGTACAATAATA CTGCACCAGTTATCATTGGTACAATAATACTGCACCAGTTATCATTGGTA CAATAATACTGCACCAGTTATCATTGGTACAATAATACTGCACCAGTTAT CATTGGTACAATAATACTGCACCAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0017 a0017	a0017c0016 a0017c0016	a0017c0016t0012 a0017c0016t0012	a0017c0016t0012g0001 a0017c0016t0012g0001	1	240	0.0042	174	c.756 others(193): Show c.756+32237_756+32238insCTGGTGCAGTATTATTGTACCAATGA TAACTGGTGCAGTATTATTGTACCAATGATAACTGGTGCAGTATTATTGT ACCAATGATAACTGGTGCAGTATTATTGTACCAATGATAACTGGTGCAGT ATTATTGTACCAATGATAACTGGTGCAGTATTATTGTACCAATGATAA	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
PSD3_chr8_18522303_19018703	18594313	T T	TATATATA others(167): Show TATATATATTATATAATATATATTATTATATATATTATATAATATATATA TTATATATATTATATAATATATATATTATATATATTATATAATATATATT ATTATATATATTATATAATATATATTATTATATATATTATATAATATATA TTATTATATATAATAAATATTATTA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0008 a0003c0004t0008	a0003c0004t0008g0099 a0003c0004t0008g0099	1	228	0.0044	174	c.248 others(193): Show c.2481+6050_2481+6051insTAATAATATTTATTATATATAATAAT ATATATTATATAATATATATAATAATATATATTATATAATATATATAATA ATATATATTATATAATATATATAATATATATATTATATAATATATATAAT ATATATATTATATAATATATATAATAATATATATTATATAATATATAT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	12/15			chr8	TogoVar
PTPN23_chr3_47376021_47418435	47416615	C C	CTTTTTTT others(167): Show CTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCGGCTAATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	332	0.0030	174	c.34 others(185): Show c.3430_*3431insTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT	PTPN23	ENSG00000076201.16	transcript	ENST00000265562.5	protein_coding		3181		chr3	TogoVar
PTPRM_chr18_7562316_8411856	7692218	T T	TGGAGGAT others(167): Show TGGAGGATGGCTAGATCCCAGGAGGTTAAGGAGGTGGGAGGATGGCTAGA TCCCAGGAGGTTAAGGAGGTGGGAGGATGGCTAGATCCCAGGAGGTTAAG GAGGTGGGAGGATGGCTAGATCCCAGGAGGTTAAGGAGGTGGAGGATGGC TAGATCCCAGGAGGTTAAGGAGGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0022 a0001c0003t0002g0022	1	80	0.0125	174	c.74- others(191): Show c.74-81895_74-81894insGAGGATGGCTAGATCCCAGGAGGTTAAG GAGGTGGGAGGATGGCTAGATCCCAGGAGGTTAAGGAGGTGGGAGGATGG CTAGATCCCAGGAGGTTAAGGAGGTGGAGGATGGCTAGATCCCAGGAGGT TAAGGAGGTGGGAGGATGGCTAGATCCCAGGAGGTTAAGGAGGTGG	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PUM1_chr1_30926506_31070717	30972444	G G	GAGAAGAG others(167): Show GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAATTAATTTATTTAAT AGGCCAGGCACAGTGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0312 a0001c0002t0004g0312	1	334	0.0030	174	c.150 others(193): Show c.1506+2206_1506+2207insTCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCACTGTGCCTGGCCTA TTAAATAAATTAATTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PXMP2_chr12_132682587_132709985	132693249	C C	CAGTTAGT others(167): Show CAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCGCCCTTGCCA GTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCGCCCTTAGCCAG TTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGT TAGTTAGTGAGCTCCCTTGCCAGTT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0169 a0001c0003t0003g0169	1	350	0.0029	174	c.237 others(191): Show c.237-2628_237-2627insTAGTGAGCTCCCTTGCCAGTTAGTTAGT GAGCGCCCTTGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGA GCGCCCTTAGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAG CTCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGT	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
PYM1_chr12_55896413_55932894	55905876	T T	TTAGATAT others(167): Show TTAGATATATATATTATTATATATATCTAATAGATATATATATTATTATA TATATCTAATAGATATATATATTATTATATATATCTAATAGATATATATA TTATTATATATATCTAATAGATATATATATTATTATATATATCTAATAGA TATATATATTATTATATATATCTAA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0262 a0001c0001t0005g0262	1	344	0.0029	174	c.38- others(189): Show c.38-2397_38-2396insTTAGATATATATAATAATATATATATCTAT TAGATATATATAATAATATATATATCTATTAGATATATATAATAATATAT ATATCTATTAGATATATATAATAATATATATATCTATTAGATATATATAA TAATATATATATCTATTAGATATATATAATAATATATATATCTA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
PYM1_chr12_55896413_55932894	55905876	T T	TTAGATAT others(167): Show TTAGATATATATATTATTATATATATCTATTAGATATATATATTATTATA TATATCTAATAGATATATATATTATTATATATATCTAATAGATATATATA TTATTATATATATCTAATAGATATATATATTATTATATATATCTAATAGA TATATATATTATTATATATATCTAA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0264 a0001c0001t0005g0264	1	344	0.0029	174	c.38- others(189): Show c.38-2397_38-2396insTTAGATATATATAATAATATATATATCTAT TAGATATATATAATAATATATATATCTATTAGATATATATAATAATATAT ATATCTATTAGATATATATAATAATATATATATCTATTAGATATATATAA TAATATATATATCTAATAGATATATATAATAATATATATATCTA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
PYM1_chr12_55896413_55932894	55905876	T T	TTAGATAT others(167): Show TTAGATATATATATTATTATATATATCTATTAGATATATATATTATTATA TATATCTATTAGATATATATATTATTATATATATCTAATAGATATATATA TTATTATATATATCTAATAGATATATATATTATTATATATATCTAATAGA TATATATATTATTATATATATCTAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01081.hp1 HG01175.hp1 others(1): Show HG00323.hp2 HG01081.hp1 HG01175.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0002g0245 others(1): Show a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0002g0245 a0001c0001t0005g0256	4	344	0.0116	174	c.38- others(189): Show c.38-2397_38-2396insTTAGATATATATAATAATATATATATCTAT TAGATATATATAATAATATATATATCTATTAGATATATATAATAATATAT ATATCTATTAGATATATATAATAATATATATATCTAATAGATATATATAA TAATATATATATCTAATAGATATATATAATAATATATATATCTA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
PYM1_chr12_55896413_55932894	55905876	T T	TTAGATAT others(167): Show TTAGATATATATATTATTATATATATCTATTAGATATATATATTATTATA TATATCTATTAGATATATATATTATTATATATATCTAATAGATATATATA TTATTATATATATCTATTAGATATATATATTATTATATATATCTAATAGA TATATATATTATTATATATATCTAA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	344	0.0029	174	c.38- others(189): Show c.38-2397_38-2396insTTAGATATATATAATAATATATATATCTAT TAGATATATATAATAATATATATATCTAATAGATATATATAATAATATAT ATATCTATTAGATATATATAATAATATATATATCTAATAGATATATATAA TAATATATATATCTAATAGATATATATAATAATATATATATCTA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
PYM1_chr12_55896413_55932894	55905876	T T	TTAGATAT others(167): Show TTAGATATATATATTATTATATATATCTATTAGATATATATATTATTATA TATATCTATTAGATATATATATTATTATATATATCTATTAGATATATATA TTATTATATATATCTATTAGATATATATATTATTATATATATCTATTAGA TATATATATTATTATATATATCTAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	344	0.0029	174	c.38- others(189): Show c.38-2397_38-2396insTTAGATATATATAATAATATATATATCTAA TAGATATATATAATAATATATATATCTAATAGATATATATAATAATATAT ATATCTAATAGATATATATAATAATATATATATCTAATAGATATATATAA TAATATATATATCTAATAGATATATATAATAATATATATATCTA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
RAB11FIP3_chr16_420649_528011	504032	T T	TCACCTCC others(167): Show TCACCTCCTCCTGTACCCCCTCACCTCCTTGTGTACCCCCTCACCTCCTG TACCCCCTCACCTCCTCCTGTACCCCCCCACCTCCTCCTGTACCCCCTCA CCTCCTCCTGTACCCCCTCACCTCCTTGTGTACCCCCTCACCTCCTGTAC CCCCTCACCTCCTCCTGTACCCCCC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0285 a0001c0002t0019g0285	1	295	0.0034	174	c.139 others(191): Show c.1395+938_1395+939insCTCCTCCTGTACCCCCTCACCTCCTTGT GTACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCCACC TCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGTA CCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCCAC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	504172	T T	TCCTCCTG others(167): Show TCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCTTGCA CTCCCATCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTC CTCTTGCACTCCCATCTCCTCCTGTACCCCCCCACCTCCTCCTGTACCCC CTCACCTCCTCTTGCACCCCCCTTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01496.hp2 HG01109.hp1 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0158 a0001c0002t0002g0171 a0001c0002t0002g0158 a0001c0002t0002g0171	2	295	0.0068	174	c.139 others(193): Show c.1395+1098_1395+1099insCCTGTACCCCCTCACCTCCTCTTGCA CTCCCATCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTC CTCTTGCACTCCCATCTCCTCCTGTACCCCCCCACCTCCTCCTGTACCCC CTCACCTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCT	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB27A_chr15_55197966_55294813	55209774	A A	ACACACAT others(167): Show ACACACATATGTGTATGTATACATATATACACATATATGTATATATACAC ATATGTGTACACATATATGTATATATACACATATGTGTGTACACATATAT GTGTATATATACACATATGTGTGTACACACATATGTGTATATATACGTAT ACACACATATGTGTGTATATATACG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02280.hp1 HG01109.hp1 HG02280.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0003 a0002c0005t0003 a0001c0001t0003 a0002c0005t0003	a0001c0001t0003g0291 a0002c0005t0003g0010 a0001c0001t0003g0291 a0002c0005t0003g0010	2	320	0.0063	174	c.468 others(191): Show c.468-4070_468-4069insCGTATATATACACACATATGTGTGTATA CGTATATATACACATATGTGTGTACACACATATGTGTATATATACACATA TATGTGTACACACATATGTGTATATATACATATATGTGTACACATATGTG TATATATACATATATGTGTATATATGTATACATACACATATGTGTG	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
RAB27A_chr15_55197966_55294813	55209869	T T	TATGCGTA others(167): Show TATGCGTATATATACGGATATACACACACATATGTGTGTATATATCCGTA TATACACACATATGTGTGTATATATCCGTATATATACACATATGTGTGTA TATACGTATATACACACATATGTGTGTGTATATACGGATATACACATATA TGTGTGTATATATACGTATATACAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03453.hp1 HG03209.hp2 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0158 a0001c0002t0002g0227 a0001c0002t0002g0158 a0001c0002t0002g0227	2	320	0.0063	174	c.468 others(191): Show c.468-4165_468-4164insGTGTATATACGTATATATACACACATAT ATGTGTATATCCGTATATACACACACATATGTGTGTATATACGTATATAC ACACATATGTGTATATATACGGATATATACACACATATGTGTGTATATAC GGATATATACACACATATGTGTGTGTATATCCGTATATATACGCAT	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
RAB27A_chr15_55197966_55294813	55209869	T T	TATGCGTA others(167): Show TATGCGTATATATACGTATATACACACATATGTGTGTGTATATACGGATA TACACACACATATGTGTGTATATATCCGTATATATACACATATGTGTGTA TATACGTATATACACACATATGTGTGTGTATATACGGATATACACATATA TGTGTGTATATATACGTATATACAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	320	0.0031	174	c.468 others(191): Show c.468-4165_468-4164insGTGTATATACGTATATATACACACATAT ATGTGTATATCCGTATATACACACACATATGTGTGTATATACGTATATAC ACACATATGTGTATATATACGGATATATACACACATATGTGTGTGTATAT CCGTATATACACACACATATGTGTGTATATACGTATATATACGCAT	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
RAB27A_chr15_55197966_55294813	55209869	T T	TATGCGTA others(167): Show TATGCGTATATATACGTATATACACATATATGTGTGTGTATATACGGATA TACACACACATATGTGTGTATATATCCGTATATATACACATATGTGTGTA TATACGTATATACACACATATGTGTGTGTATATACGGATATACACATATA TGTGTGTATATATACGTATATACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG01081.hp2 others(6): Show HG00099.hp1 HG00741.hp1 HG01081.hp2 HG01243.hp2 HG02293.hp1 HG03490.hp1 HG03831.hp2 NA18941.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0114 others(6): Show a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0192 a0001c0001t0002g0314	9	320	0.0281	174	c.468 others(191): Show c.468-4165_468-4164insGTGTATATACGTATATATACACACATAT ATGTGTATATCCGTATATACACACACATATGTGTGTATATACGTATATAC ACACATATGTGTATATATACGGATATATACACACATATGTGTGTGTATAT CCGTATATACACACACATATATGTGTATATACGTATATATACGCAT	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
RAB27A_chr15_55197966_55294813	55209869	T T	TATGCGTA others(167): Show TATGCGTATATATACGTATATACACATATATGTGTGTGTATATACGGATA TACACACACATATGTGTGTATATATCCGTATATATACACATATGTGTGTA TATACGTATATACACACATATGTGTGTGTATATACGGATATACACATATA TGTGTGTGTATATACGTATATACAC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA19064.hp1 NA18973.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0121 a0001c0001t0002g0113 a0001c0001t0002g0121	2	320	0.0063	174	c.468 others(191): Show c.468-4165_468-4164insGTGTATATACGTATATACACACACATAT ATGTGTATATCCGTATATACACACACATATGTGTGTATATACGTATATAC ACACATATGTGTATATATACGGATATATACACACATATGTGTGTGTATAT CCGTATATACACACACATATATGTGTATATACGTATATATACGCAT	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
RAB27A_chr15_55197966_55294813	55209869	T T	TATGCGTA others(167): Show TATGCGTATATATACGTATATACACATATATGTGTGTGTATGTACGGATA TACACACACATATGTGTGTATATATCCGTATATATACACATATGTGTGTA TATACGTATATACACACATATGTGTGTGTATATACGGATATACACATATA TGTGTGTATATATACGTATATACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp2 HG02145.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0230 a0001c0001t0002g0231	2	320	0.0063	174	c.468 others(191): Show c.468-4165_468-4164insGTGTATATACGTATATATACACACATAT ATGTGTATATCCGTATATACACACACATATGTGTGTATATACGTATATAC ACACATATGTGTATATATACGGATATATACACACATATGTGTGTGTATAT CCGTACATACACACACATATATGTGTATATACGTATATATACGCAT	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
RAB27A_chr15_55197966_55294813	55209869	T T	TATGCGTA others(167): Show TATGCGTATATATACGTATATACACATATATGTGTGTGTATGTACGGATA TACACACACATATGTGTGTATATATCCGTATATATACACATATGTGTGTA TATACGTATATACACACATATGTGTGTGTGTATACGGATATACACATATA TGTGTGTATATATACGTATATACAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	320	0.0031	174	c.468 others(191): Show c.468-4165_468-4164insGTGTATATACGTATATATACACACATAT ATGTGTATATCCGTATACACACACACATATGTGTGTATATACGTATATAC ACACATATGTGTATATATACGGATATATACACACATATGTGTGTGTATAT CCGTACATACACACACATATATGTGTATATACGTATATATACGCAT	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
RAB27A_chr15_55197966_55294813	55209869	T T	TATGCGTA others(167): Show TATGCGTATATATACGTATATACACATATGTGTGTGTATATACGGATATA CACACACATATGTGTGTATATATCCGTATATATACACACATATGTGTGTA TATATCCGTATATACACACATATGTGTGTATATACGGATATACACATATA TGTGTGTATATATACGTATATACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	320	0.0031	174	c.468 others(191): Show c.468-4165_468-4164insGTGTATATACGTATATATACACACATAT ATGTGTATATCCGTATATACACACATATGTGTGTATATACGGATATATAC ACACATATGTGTGTATATATACGGATATATACACACATATGTGTGTGTAT ATCCGTATATACACACACATATGTGTATATACGTATATATACGCAT	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
RAB27A_chr15_55197966_55294813	55209923	C C	CACATATG others(167): Show CACATATGTGTGTATATATACGTATACACACATATGTGTGTATATATACG TATATACACACACATATGTGTGTATATACGTATATATACACACATATGTG TGTATATACGTATATATACACACATATGTGTGTGTATATACGTATATACA CACATATGTGTATATACGTATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0294 a0001c0001t0003g0294	1	320	0.0031	174	c.468 others(191): Show c.468-4219_468-4218insATATATACGTATATACACATATGTGTGT ATATACGTATATACACACACATATGTGTGTATATATACGTATATACACAC ATATGTGTGTATATATACGTATATACACACATATGTGTGTGTATATACGT ATATATACACACATATGTGTGTATACGTATATATACACACATATGT	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
RAB3C_chr5_58578075_58864394	58597120	C C	CATAATAT others(167): Show CATAATATATATTATATAATAATATATAATACATTATATATATTATATAA TATATATAATACATTATATATATTATATAATATATATAATACATTATATA TATTATATAATATATAATACATTATATATTATATAATATAGATAATACAT TATCTATATTATATAATAATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG03139.hp2 HG01884.hp1 HG02109.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0023 a0001c0001t0031 a0001c0001t0004 a0001c0001t0023 a0001c0001t0031	a0001c0001t0004g0188 a0001c0001t0023g0192 a0001c0001t0031g0193 a0001c0001t0004g0188 a0001c0001t0023g0192 a0001c0001t0031g0193	3	220	0.0136	174	c.24+ others(191): Show c.24+13898_24+13899insTTATATAATAATATATAATACATTATAT ATATTATATAATATATATAATACATTATATATATTATATAATATATATAA TACATTATATATATTATATAATATATAATACATTATATATTATATAATAT AGATAATACATTATCTATATTATATAATAATATATAATAATATATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD51C_chr17_58687602_58740611	58726621	T T	TATATACA others(167): Show TATATACATATGTATATATGTGTATACGTATAGATGTATATACATATGTA TATATGTGTATACGTATAGATGTATATACATATGTATATATGTGTATACG TATAGATGTATATACATATGTATATATGTGTATACATATAGATGTATATA TGTGTATACGTATAGATGTATATAC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	330	0.0030	174	c.965 others(191): Show c.965+2521_965+2522insATATACATATGTATATATGTGTATACGT ATAGATGTATATACATATGTATATATGTGTATACGTATAGATGTATATAC ATATGTATATATGTGTATACGTATAGATGTATATACATATGTATATATGT GTATACATATAGATGTATATATGTGTATACGTATAGATGTATATAC	RAD51C	ENSG00000108384.16	transcript	ENST00000337432.9	protein_coding	7/8			chr17	TogoVar
RADIL_chr7_4792055_4888716	4809046	C C	CCCCCCCG others(167): Show CCCCCCCGCGTCCCCTTCCGACGCCACTGCCCCCCCGCGTCCCCTTCCGA CGCCACTGCCCCCCCGCGTCCCCTTCCGACGCCACTGCCCCCCCGCGTCC CCTTCCGACGCCACTGCCCCCCCGCGTCCCCTTCCGACGCCACTGCCCCC CCCGCGTCTCCTTCCGACGCCACTG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0028 a0028	a0028c0055 a0028c0055	a0028c0055t0026 a0028c0055t0026	a0028c0055t0026g0190 a0028c0055t0026g0190	1	292	0.0034	174	c.214 others(193): Show c.2140-3331_2140-3330insCAGTGGCGTCGGAAGGAGACGCGGGG GGGGCAGTGGCGTCGGAAGGGGACGCGGGGGGGCAGTGGCGTCGGAAGGG GACGCGGGGGGGCAGTGGCGTCGGAAGGGGACGCGGGGGGGCAGTGGCGT CGGAAGGGGACGCGGGGGGGCAGTGGCGTCGGAAGGGGACGCGGGGGG	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	9/14			chr7	TogoVar
RAI14_chr5_34651328_34837612	34665007	A A	ATATATAT others(167): Show ATATATATGTGTATATATATATGTGTATATATATATGTGTATATATATAT GTGTATATATATATGTGTATATATATATGTGTATATATATGTGTATATAT ATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGTAT ATATATATGTGTATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp2 HG02896.hp2 HG01891.hp1 HG02615.hp2 HG02896.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0007 a0001c0001 a0002c0002 a0002c0007	a0001c0001t0001 a0002c0002t0002 a0002c0007t0006 a0001c0001t0001 a0002c0002t0002 a0002c0007t0006	a0001c0001t0001g0218 a0002c0002t0002g0247 a0002c0007t0006g0246 a0001c0001t0001g0218 a0002c0002t0002g0247 a0002c0007t0006g0246	3	254	0.0118	174	c.-49 others(191): Show c.-49+8539_-49+8540insGTGTATATATATATGTGTATATATATAT GTGTATATATATATGTGTATATATATATGTGTATATATATATGTGTATAT ATATGTGTATATATATGTGTATATATATATGTGTATATATATATGTGTAT ATATATATGTGTATATATATATGTGTATATATATATGTGTATATAT	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(167): Show ATATATATGTGTATATATATATGTGTATATATATATGTGTATATATATAT GTGTATATATATGTGTATATATATGTGTATATATATATGTGTATATATAT ATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGTAT ATATATATGTGTATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02922.hp1 HG02965.hp1 others(2): Show HG02055.hp2 HG02922.hp1 HG02965.hp1 HG06807.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0154 a0001c0003t0003g0150 a0001c0003t0003g0151 others(2): Show a0001c0001t0001g0154 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0003g0152 a0001c0003t0003g0153	5	254	0.0197	174	c.-49 others(191): Show c.-49+8539_-49+8540insGTGTATATATATATGTGTATATATATAT GTGTATATATATATGTGTATATATATGTGTATATATATGTGTATATATAT ATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGTAT ATATATATGTGTATATATATATGTGTATATATATATGTGTATATAT	RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASA3_chr13_113972783_114137623	114044393	C C	CTCACTCG others(167): Show CTCACTCGCTGAGCTCCCCCCCCGCCTCACTCGCTGAGCACCCCCCCGCC GCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCCC CGCCCCGCCTCACTCGCTGAGCTCCCCCCCCCGCCTCACTCGCTGAGCTC CCCCCGCCCCGCCTCACTCGCTGAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	67	0.0149	174	c.278 others(191): Show c.278-3300_278-3299insCTCAGCGAGTGAGGCGGGGCGGGGGGAG CTCAGCGAGTGAGGCGGGGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGG GGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGC GGGGGGGTGCTCAGCGAGTGAGGCGGGGGGGGAGCTCAGCGAGTGA	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RCOR1_chr14_102587649_102735561	102676471	C C	CCCCCCCA others(167): Show CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCCC CCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCCAGGCGGGGGGCTGAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02273.hp1 NA18960.hp2 others(1): Show HG01952.hp1 HG02273.hp1 NA18960.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0008 a0001c0001t0003g0050 a0001c0001t0007g0024 others(1): Show a0001c0001t0003g0008 a0001c0001t0003g0050 a0001c0001t0007g0024 a0001c0001t0007g0048	4	292	0.0137	174	c.362 others(191): Show c.362-5379_362-5378insCCCCCCCCGCCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGA TCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676493	A A	AGGGCGGC others(167): Show AGGGCGGCTGGCCGACCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0195 a0001c0001t0018g0195	1	292	0.0034	174	c.362 others(191): Show c.362-5379_362-5378insCCCCCCCCGCCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGA TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676507	A A	ACCCCCCC others(167): Show ACCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCAGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCC CTCCCGGACAGGGCGGCTGGCCGAC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02273.hp2 NA18972.hp1 others(2): Show HG01358.hp1 HG02273.hp2 NA18972.hp1 NA19004.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0097 a0001c0001t0001g0103 others(2): Show a0001c0001t0001g0060 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0112 a0001c0001t0001g0128	5	292	0.0171	174	c.362 others(191): Show c.362-5379_362-5378insCCCCCCCGCCTCCCTCCCGGACGGGGCA GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGAT CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676507	A A	ACCCCCCC others(167): Show ACCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCC CTCCCGGACAGGGCGGCTGGCCGAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03942.hp2 HG02145.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0052 a0001c0001t0011g0049 a0001c0001t0003g0052 a0001c0001t0011g0049	2	292	0.0069	174	c.362 others(191): Show c.362-5379_362-5378insCCCCCCCGCCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGAT CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676507	A A	ACCCCCCC others(167): Show ACCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCAGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCC TCCCGGACAGGGCGGCTGGCCGACC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01256.hp2 HG02027.hp1 others(13): Show HG00423.hp1 HG01256.hp2 HG02027.hp1 HG02257.hp1 HG02300.hp2 HG03540.hp1 HG04204.hp1 NA18944.hp1 NA18949.hp2 NA18955.hp1 NA18973.hp1 NA18980.hp1 NA18990.hp1 NA19010.hp1 NA19012.hp1 NA19087.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0015 a0001c0001t0027 a0003c0006t0001	a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0079 others(13): Show a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0130 a0001c0001t0001g0161 a0001c0001t0003g0070 a0001c0001t0010g0058 a0001c0001t0010g0064 a0001c0001t0015g0124 a0001c0001t0027g0099 a0003c0006t0001g0068	16	292	0.0548	174	c.362 others(191): Show c.362-5379_362-5378insCCCCCCGCCTCCCTCCCGGACGGGGCAG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATC CCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676507	A A	ACCCCCCC others(167): Show ACCCCCCCCCGCCCCCGCCTCCCTCCCGGACGGGGCAGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCC TCCCGGACAGGGCGGCTGGCCGACC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0115 a0001c0001t0029g0115	1	292	0.0034	174	c.362 others(191): Show c.362-5379_362-5378insGCCCCCGCCTCCCTCCCGGACGGGGCAG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATC CCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676508	C C	CCCCCCCC others(167): Show CCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01496.hp1 HG02004.hp1 others(9): Show HG01361.hp2 HG01496.hp1 HG02004.hp1 HG02027.hp2 HG02155.hp1 HG03486.hp1 HG03669.hp2 HG04184.hp2 NA18971.hp2 NA18973.hp2 NA19004.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0035 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0035 a0001c0001t0051	a0001c0001t0002g0172 a0001c0001t0002g0200 a0001c0001t0002g0224 others(9): Show a0001c0001t0002g0172 a0001c0001t0002g0200 a0001c0001t0002g0224 a0001c0001t0002g0227 a0001c0001t0002g0236 a0001c0001t0002g0246 a0001c0001t0002g0285 a0001c0001t0002g0287 a0001c0001t0004g0171 a0001c0001t0004g0175 a0001c0001t0035g0251 a0001c0001t0051g0247	12	292	0.0411	174	c.362 others(191): Show c.362-5379_362-5378insCCCCCCCCCGCCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676508	C C	CCCCCCCC others(167): Show CCCCCCCCCCCCCCCCCCGCCTCCCTCCTGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	292	0.0034	174	c.362 others(191): Show c.362-5379_362-5378insCCCCCCCCCGCCTCCCTCCTGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RERGL_chr12_18075869_18095193	18094655	A A	AGACCCAT others(167): Show AGACCCATAGAGCAATAGCAAGACCGAGACTGACACTACAAGTTGACCTA TTGTCCTCTTGACCTTTCCAATGATCGTTCCAGGGATCTAGCATTATCAC TATTTCATCATTCGTCTCAACTGAAAGCAAAAAGATGTACAAAGAAAAGG AACAGTCTTGAAAGAAATCTGCAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	402	0.0025	174	c.-45 others(185): Show c.-4516_-4515insACTGCAGATTTCTTTCAAGACTGTTCCTTTTCTT TGTACATCTTTTTGCTTTCAGTTGAGACGAATGATGAAATAGTGATAATG CTAGATCCCTGGAACGATCATTGGAAAGGTCAAGAGGACAATAGGTCAAC TTGTAGTGTCAGTCTCGGTCTTGCTATTGCTCTATGGGTC	RERGL	ENSG00000111404.7	transcript	ENST00000538724.6	protein_coding		4463		chr12	TogoVar
RIOK2_chr5_97155867_97188247	97179996	T T	TATATATA others(167): Show TATATATATAATATATATAATATATATATATAAAATATATATATATAATA TATATAATATATATATATTATATATATATAAAATATATATATAATATATA TAATATATATATTATATATAATATATATATAATATATATATATAATATAT ATAATATATATATAATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0247 a0003c0003t0005g0247	1	410	0.0024	174	c.67- others(187): Show c.67-804_67-803insTATATATATATTATATATATATTATATATATT ATATATATATATTATATATATATTATATATAATATATATATTATATATAT TATATATATATTTTATATATATATAATATATATATATTATATATATTATA TATATATATTTTATATATATATATTATATATATTATATATAT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RNASE10_chr14_20500537_20518884	20505261	G G	GCTCCCTC others(167): Show GCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01433.hp1 HG00738.hp2 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0005 a0001c0001t0003g0006 a0001c0001t0001g0005 a0001c0001t0003g0006	2	396	0.0051	174	c.-76 others(183): Show c.-764_-763insCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		275		chr14	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATT others(167): Show AATATATTTAAATATATATATCTTTAAATATGTATAAATTATATAATTTA AATATATATTAATATACATATTTTAATATATATAATTTAATATATATCTT TAAATATATTTTTAAATATATATATATTTATATATATATTTTTATATATA TATTTTTAAATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00733.hp1 HG00140.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0074 a0001c0001t0001g0062 a0001c0001t0001g0074	2	408	0.0049	174	c.182 others(191): Show c.182-2712_182-2711insTTAAATATATATATCTTTAAATATGTAT AAATTATATAATTTAAATATATATTAATATACATATTTTAATATATATAA TTTAATATATATCTTTAAATATATTTTTAAATATATATATATTTATATAT ATATTTTTATATATATATTTTTAAATATATATATATATTTATATAT	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF213_chr17_80255852_80403794	80314427	C C	CTGGAGGT others(167): Show CTGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTACTGGAGGTGAT GGTGGTGGTGGTGGAGGTACTGGAGGTGATGGTGGTGGTGAAGGTGATGG TGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGATGGTGGAGGTGGTG GAGGTAATGGAGGTGATGGTGGTGG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0016 a0016	a0016c0014 a0016c0014	a0016c0014t0041 a0016c0014t0041	a0016c0014t0041g0222 a0016c0014t0041g0222	1	292	0.0034	174	c.281 others(193): Show c.2811+1275_2811+1276insTGGTGAAGGTGATGGTGGAGGTACTG GAGGTGATGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGTGGTGGTGAA GGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGATGGTGG AGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGAGGTGATGGTGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNFT2_chr12_116733315_116858631	116733346	T T	TTAATTTT others(167): Show TTAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0036 a0001c0006t0036	a0001c0006t0036g0018 a0001c0006t0036g0018	1	268	0.0037	174	c.-51 others(185): Show c.-5178_-5177insTAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding		4968		chr12	TogoVar
RPH3AL_chr17_207389_357807	218076	C C	CTGGGGCA others(167): Show CTGGGGCAGTTATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTGGCCT GGCTGAAATCAGGACCCCCAAGGCATTTCATTCCTGTTTGGGGCAGTTAT TATGGAGCCCATTCTTCTTCTGCACTAAAATTGGCCTGGCTGAAATCAGG ACCCCCAAGGCATTTCATTCCTGCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(2): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG01258.hp2 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016	a0001c0001t0001g0040 a0001c0001t0001g0086 a0001c0001t0002g0116 others(2): Show a0001c0001t0001g0040 a0001c0001t0001g0086 a0001c0001t0002g0116 a0001c0001t0003g0098 a0001c0001t0016g0082	5	133	0.0376	174	c.727 others(191): Show c.727+1546_727+1547insAGCAGGAATGAAATGCCTTGGGGGTCCT GATTTCAGCCAGGCCAATTTTAGTGCAGAAGAAGAATGGGCTCCATAATA ACTGCCCCAAACAGGAATGAAATGCCTTGGGGGTCCTGATTTCAGCCAGG CCAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATAACTGCCCCA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	218333	T T	TTGGGGCA others(167): Show TTGGGGCAGTTATTATGGAGCCCGTTCTTCTTCTGCACTAAAATTGGCCT GGCTGAAATCAGGACCCCCAAGGCATTTCATTCCTGTTTGGGGCAGTTAT TATGGAGCCCTTTCTTCTTCTGCACTAAAATTGGCCTCGCTGAAATCAGG ACCCCCAAGGCATTTCATTCCCATC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0101 a0001c0001t0003g0101	1	133	0.0075	174	c.727 others(191): Show c.727+1289_727+1290insGATGGGAATGAAATGCCTTGGGGGTCCT GATTTCAGCGAGGCCAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATA ACTGCCCCAAACAGGAATGAAATGCCTTGGGGGTCCTGATTTCAGCCAGG CCAATTTTAGTGCAGAAGAAGAACGGGCTCCATAATAACTGCCCCA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9			chr17	TogoVar
RPSA2_chr19_23758004_23833868	23761923	T T	TCCTTCCT others(167): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0117	a0001c0001t0117g0353 a0001c0001t0117g0353	1	366	0.0027	174	c.-15 others(185): Show c.-1514_-1513insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1080		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80930363	T T	TCCCCAGC others(167): Show TCCCCAGCTTATTCCCAGCTCATCCCCAGCTCATCCCCAGCTCATCCTCA GCTCATCCCCAGCTCATCCTCACCTTATCCCCAGATCATCCCCAGATCAT CCCCAGCTCATCCCCAGCTCAGGTCACCCTCAGCTCATCCCAGCTCAGCT CACCCTTAGCTTATCCTCAGCTCAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0075 a0001c0075	a0001c0075t0012 a0001c0075t0012	a0001c0075t0012g0127 a0001c0075t0012g0127	1	196	0.0051	174	c.291 others(193): Show c.2919+4885_2919+4886insCCAGCTTATTCCCAGCTCATCCCCAG CTCATCCCCAGCTCATCCTCAGCTCATCCCCAGCTCATCCTCACCTTATC CCCAGATCATCCCCAGATCATCCCCAGCTCATCCCCAGCTCAGGTCACCC TCAGCTCATCCCAGCTCAGCTCACCCTTAGCTTATCCTCAGCTCACCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	24/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCCTCCA others(167): Show CCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCAC TCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACCCCACAGCC CGGGGATGCCCCACACCCTCTGCCCCCCTCCACCCCACAGCCCGGGGGTG CCCCACACCCTCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0355 a0001c0001t0002g0355	1	408	0.0025	174	c.727 others(187): Show c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC GGGCTGTGGGGTGGAGGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTG GGGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGG GGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(167): Show GGAGGAGGGAGGAGGAGGGAGGGAGGAGGAGGGAGGGAGAGGAGGGAGGG GGAGGAGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAAGAA GGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGAGGAAGGAGGAGAAGG AGGAGGAGGAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02809.hp1 HG02055.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0223 a0001c0003t0004g0226 a0001c0003t0004g0223 a0001c0003t0004g0226	2	396	0.0051	174	c.807 others(191): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTCCTCCTCCTCCT TCTCCTCCTTCCTCTTCCTCTTCCTCTTCTTCCTCTTCCTCTTCTCCTTC TTCTCCCCCTTCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCTCCTCCCCC TCCCTCCTCTCCCTCCCTCCTCCTCCCTCCCTCCTCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTP5_chr2_241864729_241878823	241873599	G G	GCCCCCCG others(167): Show GCCCCCCGCCTCCGAGACCCCGCCCTGCCTCTGAGACCCCGCCTCACCTC TGAGACACCCCCCAACCCCACCTTTGAGATGCCCGCCCCGCCTCCGTGGC CCCGCCTCCACCTCCGAGACCCCGCCTCCACCTCTGAGACCCCTTTCTCT GAGACCCCTGCCTCTGAAGCCCCGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0006 a0001c0001t0020g0006	1	365	0.0027	174	c.34 others(183): Show c.347_*348insCCTGCCTCTGAGACCCCGCCTCACCTCTGAGACACC CCCCAACCCCACCTTTGAGATGCCCGCCCCGCCTCCGTGGCCCCGCCTCC ACCTCCGAGACCCCGCCTCCACCTCTGAGACCCCTTTCTCTGAGACCCCT GCCTCTGAAGCCCCGCCCCCCCGCCTCCGAGACCCCGC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding	2/2	348	INFO_REALIGN_3_PRIME	chr2	TogoVar

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