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
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGAGA others(6): Show GAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03516.hp1 HG02572.hp2 HG03516.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0013 a0002c0005t0013	a0002c0005t0013g0228 a0002c0005t0013g0229 a0002c0005t0013g0228 a0002c0005t0013g0229	2	320	0.0063	13	c.142 others(30): Show c.142-8255_142-8254insTCTCTCTCTCTCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296051	A A	AGAGAGAG others(6): Show AGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0252 a0001c0001t0009g0252	1	320	0.0031	13	c.142 others(30): Show c.142-8316_142-8315insCTCTCTCTCTCTC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11317612	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0216 a0001c0001t0024g0216	1	320	0.0031	13	c.141 others(32): Show c.141+26383_141+26384insAAATATATATATA	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11317612	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG04204.hp1 NA18942.hp2 HG02129.hp1 HG04204.hp1 NA18942.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0002c0002t0043 a0002c0004t0002 a0001c0001t0001 a0002c0002t0043 a0002c0004t0002	a0001c0001t0001g0222 a0002c0002t0043g0104 a0002c0004t0002g0021 a0001c0001t0001g0222 a0002c0002t0043g0104 a0002c0004t0002g0021	3	320	0.0094	13	c.141 others(32): Show c.141+26383_141+26384insAAAAATATATATA	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11317612	A A	ATATATAT others(6): Show ATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0092 a0002c0004t0002g0092	1	320	0.0031	13	c.141 others(32): Show c.141+26383_141+26384insAAAAAAATATATA	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11317612	A A	ATATATTT others(6): Show ATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01074.hp2 HG02280.hp1 others(2): Show HG00323.hp1 HG01074.hp2 HG02280.hp1 NA18969.hp1 NA19011.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0009 a0001c0001 a0002c0002 a0007c0009	a0001c0001t0001 a0001c0001t0008 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0008 a0002c0002t0002 a0007c0009t0002	a0001c0001t0001g0182 a0001c0001t0008g0127 a0001c0001t0008g0135 others(2): Show a0001c0001t0001g0182 a0001c0001t0008g0127 a0001c0001t0008g0135 a0002c0002t0002g0075 a0007c0009t0002g0083	5	320	0.0156	13	c.141 others(32): Show c.141+26383_141+26384insAAAAAAAAATATA	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11317612	A A	ATATTTTT others(6): Show ATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA19012.hp1 HG02132.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0199 a0001c0012t0001g0157 a0001c0001t0001g0199 a0001c0012t0001g0157	2	320	0.0063	13	c.141 others(32): Show c.141+26383_141+26384insAAAAAAAAAAATA	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11317613	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0285 a0001c0001t0005g0285	1	320	0.0031	13	c.141 others(32): Show c.141+26382_141+26383insTATATATATATAT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11317627	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA19064.hp2 HG01257.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0184 a0001c0001t0008g0190 a0001c0001t0001g0184 a0001c0001t0008g0190	2	320	0.0063	13	c.141 others(32): Show c.141+26368_141+26369insTAAAAAAAAAAAA	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11330740	G G	GGGAGGAG others(6): Show GGGAGGAGGGAGGA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA19011.hp2 NA19057.hp1 others(3): Show NA18981.hp2 NA19011.hp2 NA19057.hp1 NA19062.hp2 NA19074.hp2 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0048 a0001c0003t0006 a0001c0003t0048	a0001c0003t0006g0298 a0001c0003t0006g0301 a0001c0003t0006g0307 others(3): Show a0001c0003t0006g0298 a0001c0003t0006g0301 a0001c0003t0006g0307 a0001c0003t0006g0309 a0001c0003t0006g0312 a0001c0003t0048g0111	6	320	0.0188	13	c.141 others(32): Show c.141+13243_141+13255dupTCCTCCCTCCTCC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11330956	G G	GGGAGGAG others(6): Show GGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01109.hp1 HG02055.hp1 others(5): Show HG00558.hp1 HG01109.hp1 HG02055.hp1 HG02717.hp2 NA18970.hp1 NA18986.hp1 NA19007.hp1 NA19012.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0006 a0001c0003t0012 a0001c0003t0052 others(1): Show a0001c0003t0006 a0001c0003t0012 a0001c0003t0052 a0002c0002t0017	a0001c0003t0006g0233 a0001c0003t0006g0304 a0001c0003t0006g0306 others(5): Show a0001c0003t0006g0233 a0001c0003t0006g0304 a0001c0003t0006g0306 a0001c0003t0006g0310 a0001c0003t0006g0311 a0001c0003t0012g0305 a0001c0003t0052g0234 a0002c0002t0017g0270	8	320	0.0250	13	c.141 others(32): Show c.141+13039_141+13040insTCCCTCCTCCTCC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROPN1_chr3_123964015_123997124	123986018	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG00735.hp2 others(34): Show HG00423.hp1 HG00621.hp2 HG00735.hp2 HG01074.hp2 HG01106.hp1 HG01255.hp1 HG01496.hp1 HG02015.hp1 HG02027.hp2 HG02129.hp2 HG02148.hp1 HG02523.hp1 HG02647.hp2 HG02809.hp1 HG03041.hp2 HG03669.hp2 NA18747.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18957.hp2 NA18967.hp2 NA18972.hp1 NA18977.hp1 NA18978.hp1 NA18997.hp1 NA19000.hp2 NA19001.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19063.hp1 NA19067.hp2 NA19077.hp1 NA19077.hp2 NA19084.hp1 NA19085.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0007c0009t0001 a0001c0001t0001 a0007c0009t0001	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0035 others(12): Show a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0035 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0073 a0001c0001t0001g0115 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0199 a0007c0009t0001g0162	37	416	0.0889	13	c.-12 others(30): Show c.-12-5526_-12-5525insATTTTTTTTTTTT	ROPN1	ENSG00000065371.18	transcript	ENST00000405845.8	protein_coding	1/5			chr3	TogoVar
ROPN1_chr3_123964015_123997124	123996403	A A	ACTCGGGA others(6): Show ACTCGGGACCTTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0222 a0001c0002t0001g0222	1	416	0.0024	13	c.-44 others(24): Show c.-4495_-4494insCCAAGGTCCCGAG	ROPN1	ENSG00000065371.18	transcript	ENST00000405845.8	protein_coding		4280		chr3	TogoVar
ROR1_chr1_63769017_64186498	63790693	G G	GCACCCTG others(6): Show GCACCCTGCAAGCT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0091 a0001c0006t0008g0091	1	96	0.0104	13	c.91+ others(30): Show c.91+16185_91+16186insCACCCTGCAAGCT	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	1/8			chr1	TogoVar
ROR1_chr1_63769017_64186498	64046295	C C	CTGAAGGT others(6): Show CTGAAGGTCTATTA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	96	0.0104	13	c.164 others(30): Show c.164-3396_164-3395insTGAAGGTCTATTA	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	2/8			chr1	TogoVar
ROR1_chr1_63769017_64186498	64067710	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	96	0.0104	13	c.482 others(32): Show c.482+17002_482+17014dupTTTTTTTTTTTTT	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROR2_chr9_91717601_91955228	91735606	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0003 a0002c0013t0003	a0002c0013t0003g0105 a0002c0013t0003g0105	1	226	0.0044	13	c.622 others(30): Show c.622+1772_622+1784dupAAAAAAAAAAAAA	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	5/8			chr9	TogoVar
ROR2_chr9_91717601_91955228	91829549	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0004 a0004	a0004c0028 a0004c0028	a0004c0028t0002 a0004c0028t0002	a0004c0028t0002g0186 a0004c0028t0002g0186	1	226	0.0044	13	c.98- others(30): Show c.98-53744_98-53732dupTTTTTTTTTTTTT	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
ROR2_chr9_91717601_91955228	91911933	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0006 a0001c0014t0006	a0001c0014t0006g0149 a0001c0014t0006g0149	1	226	0.0044	13	c.97+ others(30): Show c.97+37921_97+37933dupTTTTTTTTTTTTT	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
ROR2_chr9_91717601_91955228	91927562	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	226	0.0044	13	c.97+ others(30): Show c.97+22292_97+22304dupAAAAAAAAAAAAA	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
ROR2_chr9_91717601_91955228	91937029	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG03017.hp1 NA18981.hp2 HG00544.hp1 HG03017.hp1 NA18981.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0002 a0001c0001 a0004c0002	a0001c0001t0001 a0004c0002t0002 a0001c0001t0001 a0004c0002t0002	a0001c0001t0001g0136 a0001c0001t0001g0178 a0004c0002t0002g0137 a0001c0001t0001g0136 a0001c0001t0001g0178 a0004c0002t0002g0137	3	226	0.0133	13	c.97+ others(30): Show c.97+12825_97+12837dupTTTTTTTTTTTTT	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
RORA_chr15_60483284_61234302	60540574	C C	CCCCCCCC others(6): Show CCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0043 a0001c0001t0009g0043	1	118	0.0085	13	c.197 others(30): Show c.197-8724_197-8723insCGGGGGGGGGGGG	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60611559	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01358.hp1 HG02258.hp1 others(6): Show HG01099.hp2 HG01358.hp1 HG02258.hp1 HG02258.hp2 HG02572.hp1 HG02886.hp1 HG02976.hp2 HG03579.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 others(1): Show a0001c0001 a0001c0005 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0040 a0001c0005t0004 a0001c0007t0003 a0001c0008t0057	a0001c0001t0001g0104 a0001c0001t0008g0033 a0001c0001t0009g0010 others(6): Show a0001c0001t0001g0104 a0001c0001t0008g0033 a0001c0001t0009g0010 a0001c0001t0009g0043 a0001c0001t0012g0025 a0001c0001t0040g0074 a0001c0005t0004g0082 a0001c0007t0003g0084 a0001c0008t0057g0008	9	118	0.0763	13	c.196 others(32): Show c.196+67085_196+67097dupTTTTTTTTTTTTT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60943916	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA20300.hp2 HG03041.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0048 a0001c0001t0010 a0001c0001t0048	a0001c0001t0010g0081 a0001c0001t0048g0022 a0001c0001t0010g0081 a0001c0001t0048g0022	2	118	0.0170	13	c.167 others(34): Show c.167-265243_167-265231dupTTTTTTTTTTTTT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60978959	C C	CCCTTTTT others(6): Show CCCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0013 a0001c0002t0003g0013	1	118	0.0085	13	c.166 others(34): Show c.166+250093_166+250094insAAAAAAAAAAAGG	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60978961	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02257.hp1 HG00639.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0006 a0001c0004t0008 a0001c0001t0006 a0001c0004t0008	a0001c0001t0006g0099 a0001c0004t0008g0095 a0001c0001t0006g0099 a0001c0004t0008g0095	2	118	0.0170	13	c.166 others(34): Show c.166+250079_166+250091dupAAAAAAAAAAAAA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPA1_chr17_1825005_1905082	1845162	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0393 a0001c0001t0009g0393	1	402	0.0025	13	c.272 others(28): Show c.272+476_272+477insGTGTGTGTGTGTG	RPA1	ENSG00000132383.12	transcript	ENST00000254719.10	protein_coding	4/16			chr17	TogoVar
RPA1_chr17_1825005_1905082	1874012	A A	AAAAATAT others(6): Show AAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0026 a0001c0001t0030g0026	1	402	0.0025	13	c.454 others(30): Show c.454+1487_454+1488insAAATATATATATA	RPA1	ENSG00000132383.12	transcript	ENST00000254719.10	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPA4_chrX_96878908_96890467	96882959	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0000 a0001c0001t0009g0000	1	319	0.0031	13	c.-13 others(24): Show c.-1352_-1351insAAAAAAAAAAAAA	RPA4	ENSG00000204086.4	transcript	ENST00000373040.4	protein_coding		948		chrX	TogoVar
RPAIN_chr17_5415182_5437877	5431484	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01884.hp1 HG02622.hp1 others(24): Show HG00099.hp1 HG01884.hp1 HG02622.hp1 HG02698.hp1 HG02895.hp1 HG02895.hp2 HG02970.hp1 HG03098.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG04184.hp1 NA18522.hp2 NA18945.hp1 NA18950.hp2 NA18980.hp1 NA18991.hp2 NA18994.hp2 NA19030.hp2 NA19055.hp1 NA19079.hp1 NA19085.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0001c0001t0001 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0039 others(19): Show a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0170 a0002c0002t0001g0092 a0002c0002t0001g0105 a0002c0002t0001g0123 a0002c0002t0001g0149 a0002c0002t0001g0150 a0004c0004t0001g0034 a0004c0004t0001g0095	27	400	0.0675	13	c.631 others(30): Show c.631-1054_631-1042dupAAAAAAAAAAAAA	RPAIN	ENSG00000129197.15	transcript	ENST00000381209.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPAP2_chr1_92294059_92407056	92305432	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02622.hp2 HG03453.hp1 HG01884.hp2 HG02622.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0003 a0001c0001t0015	a0001c0001t0003g0072 a0001c0001t0015g0138 a0001c0001t0015g0139 a0001c0001t0003g0072 a0001c0001t0015g0138 a0001c0001t0015g0139	3	192	0.0156	13	c.399 others(30): Show c.399+1090_399+1102dupAAAAAAAAAAAAA	RPAP2	ENSG00000122484.9	transcript	ENST00000610020.2	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPAP2_chr1_92294059_92407056	92351305	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03098.hp2 HG03453.hp2 HG02630.hp2 HG03098.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0178 a0001c0002t0005g0183 a0001c0002t0005g0184 a0001c0002t0005g0178 a0001c0002t0005g0183 a0001c0002t0005g0184	3	192	0.0156	13	c.168 others(32): Show c.1688+5402_1688+5414dupAAAAAAAAAAAAA	RPAP2	ENSG00000122484.9	transcript	ENST00000610020.2	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPEL1_chr10_103240887_103253016	103250931	C C	CAACCACC others(6): Show CAACCACCACCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	1	375	0.0027	13	c.42 others(24): Show c.4248_*4249insAACCACCACCACT	RPEL1	ENSG00000235376.5	transcript	ENST00000441178.2	protein_coding		2916		chr10	TogoVar
RPGRIP1L_chr16_53593153_53708859	53617073	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01074.hp2 HG01258.hp2 others(51): Show HG00597.hp2 HG01074.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01975.hp2 HG02040.hp1 HG02074.hp2 HG02080.hp2 HG02155.hp2 HG02293.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02886.hp1 HG02970.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03491.hp1 HG03704.hp2 HG03710.hp1 HG04204.hp2 NA18522.hp1 NA18906.hp1 NA18950.hp2 NA18967.hp1 NA18973.hp2 NA18978.hp2 NA18979.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19004.hp2 NA19006.hp2 NA19030.hp2 NA19056.hp2 NA19060.hp2 NA19070.hp1 NA20129.hp1 NA21309.hp1	a0001 a0003 a0005 others(4): Show a0001 a0003 a0005 a0006 a0007 a0011 a0016	a0001c0001 a0001c0005 a0001c0007 others(7): Show a0001c0001 a0001c0005 a0001c0007 a0003c0003 a0005c0006 a0005c0009 a0006c0008 a0007c0014 a0011c0018 a0016c0028	a0001c0001t0003 a0001c0001t0007 a0001c0001t0021 others(14): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0021 a0001c0005t0001 a0001c0005t0005 a0001c0007t0001 a0003c0003t0001 a0003c0003t0006 a0003c0003t0009 a0003c0003t0014 a0005c0006t0001 a0005c0006t0012 a0005c0009t0001 a0006c0008t0001 a0007c0014t0001 a0011c0018t0005 a0016c0028t0001	a0001c0001t0003g0005 a0001c0001t0003g0020 a0001c0001t0003g0107 others(48): Show a0001c0001t0003g0005 a0001c0001t0003g0020 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0117 a0001c0001t0003g0120 a0001c0001t0007g0009 a0001c0001t0007g0092 a0001c0001t0007g0093 a0001c0001t0021g0122 a0001c0005t0001g0036 a0001c0005t0005g0032 a0001c0005t0005g0035 a0001c0005t0005g0039 a0001c0005t0005g0042 a0001c0005t0005g0051 a0001c0005t0005g0143 a0001c0007t0001g0004 a0001c0007t0001g0055 a0001c0007t0001g0076 a0001c0007t0001g0078 a0001c0007t0001g0087 a0003c0003t0001g0002 a0003c0003t0001g0011 a0003c0003t0001g0054 a0003c0003t0001g0068 a0003c0003t0001g0069 a0003c0003t0001g0071 a0003c0003t0001g0127 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0006g0135 a0003c0003t0006g0136 a0003c0003t0006g0137 a0003c0003t0006g0139 a0003c0003t0009g0131 a0003c0003t0014g0058 a0005c0006t0001g0337 a0005c0006t0001g0347 a0005c0006t0012g0339 a0005c0009t0001g0349 a0006c0008t0001g0029 a0006c0008t0001g0030 a0007c0014t0001g0062 a0011c0018t0005g0043 a0016c0028t0001g0311	54	364	0.1484	13	c.361 others(32): Show c.3616+1939_3616+1951dupTTTTTTTTTTTTT	RPGRIP1L	ENSG00000103494.16	transcript	ENST00000647211.2	protein_coding	24/26			chr16	TogoVar
RPGRIP1L_chr16_53593153_53708859	53648658	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0270 a0001c0001t0002g0270	1	364	0.0028	13	c.230 others(30): Show c.2304+305_2304+306insGTGTGTGTGTGTG	RPGRIP1L	ENSG00000103494.16	transcript	ENST00000647211.2	protein_coding	16/26			chr16	TogoVar
RPGRIP1_chr14_21275083_21356301	21275949	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG03209.hp1 HG02723.hp1 HG03209.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0109 a0005c0005t0001g0112 a0005c0005t0001g0109 a0005c0005t0001g0112	2	332	0.0060	13	c.-42 others(24): Show c.-4249_-4248insTTTTTTTTTTTTT	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding		4133		chr14	TogoVar
RPGRIP1_chr14_21275083_21356301	21297877	C C	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0110 a0008c0009t0001g0110	1	332	0.0030	13	c.218 others(30): Show c.218+3071_218+3072insCTTTCTTTCTTTT	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPGRIP1_chr14_21275083_21356301	21304420	A A	AAAGAAAG others(6): Show AAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	332	0.0030	13	c.800 others(28): Show c.800+889_800+890insGAAGAAAGAAAGA	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPGRIP1_chr14_21275083_21356301	21335806	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02630.hp1 HG02809.hp2 others(1): Show HG01884.hp1 HG02630.hp1 HG02809.hp2 HG03516.hp1	a0001 a0021 a0027 a0001 a0021 a0027	a0001c0001 a0021c0045 a0027c0041 a0001c0001 a0021c0045 a0027c0041	a0001c0001t0001 a0021c0045t0003 a0027c0041t0001 a0001c0001t0001 a0021c0045t0003 a0027c0041t0001	a0001c0001t0001g0003 a0001c0001t0001g0173 a0021c0045t0003g0012 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0173 a0021c0045t0003g0012 a0027c0041t0001g0121	4	332	0.0121	13	c.333 others(32): Show c.3339+1109_3339+1110insAAAAAAAAAAAAA	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	21/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPGR_chrX_38279408_38332509	38332504	T T	TATATATA others(6): Show TATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0045	1	302	0.0033	13	c.-51 others(24): Show c.-5138_-5137insTATATATATATAT	RPGR	ENSG00000156313.15	transcript	ENST00000645032.1	protein_coding		4996		chrX	TogoVar
RPH3AL_chr17_207389_357807	309400	C C	CCCTGCCC others(6): Show CCCTGCCCAGGGCT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0113 a0001c0001t0008g0113	1	133	0.0075	13	c.351 others(32): Show c.351+10007_351+10019dupAGCCCTGGGCAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPIA_chr2_88686673_88755929	88713120	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0309 a0001c0001t0003g0309	1	368	0.0027	13	c.402 others(32): Show c.402+13057_402+13058insATATATATATATT	RPIA	ENSG00000153574.9	transcript	ENST00000283646.5	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
RPIA_chr2_88686673_88755929	88713121	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG06807.hp2 HG02486.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	2	368	0.0054	13	c.402 others(32): Show c.402+13057_402+13058insATATATATATATA	RPIA	ENSG00000153574.9	transcript	ENST00000283646.5	protein_coding	3/8			chr2	TogoVar
RPL13A_chr19_49482608_49497308	49495135	C C	CTTTCTCT others(6): Show CTTTCTCTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG03471.hp1 NA20129.hp2 HG02897.hp2 HG03471.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0042 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0001g0042 a0001c0001t0005g0077 a0001c0001t0005g0078	3	338	0.0089	13	c.33 others(24): Show c.3320_*3321insTTTCTCTTTTTTT	RPL13A	ENSG00000142541.18	transcript	ENST00000391857.9	protein_coding		2828		chr19	TogoVar
RPL18A_chr19_17854910_17868319	17862016	G G	GACCCCCC others(6): Show GACCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0024 a0002c0009t0001g0024	1	410	0.0024	13	c.199 others(26): Show c.199-78_199-77insACCCCCCCCCCCC	RPL18A	ENSG00000105640.13	transcript	ENST00000222247.10	protein_coding	2/4			chr19	TogoVar
RPL18A_chr19_17854910_17868319	17862283	C C	CAGGCAAG others(6): Show CAGGCAAGTGCCAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0025 a0003c0003t0001g0025	1	410	0.0024	13	c.328 others(26): Show c.328+63_328+64insCAAGTGCCAGAGG	RPL18A	ENSG00000105640.13	transcript	ENST00000222247.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
RPL22_chr1_6180020_6204595	6189612	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03098.hp2 HG03516.hp1 others(1): Show HG02559.hp1 HG03098.hp2 HG03516.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0190 a0001c0001t0001g0191 others(1): Show a0001c0001t0001g0167 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193	4	372	0.0108	13	c.243 others(30): Show c.243-2809_243-2797dupTTTTTTTTTTTTT	RPL22	ENSG00000116251.11	transcript	ENST00000234875.9	protein_coding	3/3			chr1	TogoVar
RPL23_chr17_38842860_38858721	38842922	T T	TATCTATC others(6): Show TATCTATCTATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 NA18954.hp2 HG02074.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	418	0.0048	13	c.72 others(24): Show c.7209_*7210insTAGATAGATAGAT	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding		4937		chr17	TogoVar
RPL23_chr17_38842860_38858721	38845111	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02451.hp1 HG02922.hp2 others(3): Show HG02258.hp2 HG02451.hp1 HG02922.hp2 HG03579.hp2 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0012 a0001c0001t0024 a0001c0001t0006 a0001c0001t0012 a0001c0001t0024	a0001c0001t0006g0008 a0001c0001t0012g0012 a0001c0001t0024g0029 a0001c0001t0006g0008 a0001c0001t0012g0012 a0001c0001t0024g0029	6	418	0.0144	13	c.50 others(24): Show c.5020_*5021insAAAAAAAAAAAAA	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding		2748		chr17	TogoVar
RPL24_chr3_101676091_101691718	101684776	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02280.hp2 NA18969.hp2 others(1): Show HG00558.hp1 HG02280.hp2 NA18969.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0047 a0001c0001t0001g0077 a0001c0001t0002g0195 a0001c0001t0001g0047 a0001c0001t0001g0077 a0001c0001t0002g0195	4	444	0.0090	13	c.192 others(30): Show c.192+1029_192+1041dupTTTTTTTTTTTTT	RPL24	ENSG00000114391.14	transcript	ENST00000394077.8	protein_coding	3/5			chr3	TogoVar

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