Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	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
RBM20_chr10_110639336_110844468	110809218	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA19043.hp2 NA18990.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0248 a0001c0003t0001g0046 a0001c0001t0001g0248 a0001c0003t0001g0046	2	63	0.0317	28	c.180 others(47): Show c.1801-1151_1801-1150insAAAAAAAAAAAAAAAAAAAAAAAAAA AA		RBM20	ENSG00000203867.8	transcript	ENST00000369519.4	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
RBM23_chr14_22888204_22924149	22910151	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02027.hp2 HG02486.hp1 others(3): Show HG01361.hp2 HG02027.hp2 HG02486.hp1 NA18945.hp2 NA19068.hp1 NA19081.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0003c0008 a0001c0002 a0001c0003 a0003c0008	a0001c0002t0001 a0001c0002t0005 a0001c0003t0005 others(1): Show a0001c0002t0001 a0001c0002t0005 a0001c0003t0005 a0003c0008t0056	a0001c0002t0001g0076 a0001c0002t0001g0172 a0001c0002t0001g0198 others(3): Show a0001c0002t0001g0076 a0001c0002t0001g0172 a0001c0002t0001g0198 a0001c0002t0005g0149 a0001c0003t0005g0150 a0003c0008t0056g0195	6	56	0.1071	28	c.67- others(41): Show c.67-557_67-556insTTTTTTTTTTTTTTTTTTTTTTTTTTTT		RBM23	ENSG00000100461.18	transcript	ENST00000359890.8	protein_coding	2/13						chr14	TogoVar
RBM24_chr6_17276361_17298871	17295021	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01884.hp1 HG02027.hp2 others(11): Show HG01071.hp2 HG01884.hp1 HG02027.hp2 HG02040.hp2 HG02132.hp2 HG02257.hp2 HG02523.hp2 HG02615.hp2 HG02698.hp2 HG03516.hp1 HG06807.hp1 NA18954.hp1 NA18965.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0030 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0002g0006 a0001c0001t0003g0025	14	25	0.5600	28	c.29 others(39): Show c.2902_*2903insTATATATATATATATATATATATATATA		RBM24	ENSG00000112183.15	transcript	ENST00000379052.10	protein_coding					1151		chr6	TogoVar
RBM27_chr5_146198605_146294223	146217464	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0044 a0001c0002t0003g0044	1	92	0.0109	28	c.60- others(43): Show c.60-1494_60-1493insTTTTTTTTTTTTTTTTTTTTTTTTTTTT		RBM27	ENSG00000091009.8	transcript	ENST00000265271.7	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr5	TogoVar
RBM34_chr1_235126183_235166250	235155820	T T	TACATATA others(21): Show TACATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0044 a0001c0002t0002g0044	1	386	0.0026	28	c.366 others(43): Show c.366-709_366-708insGTATATATATATATATATATATATATGT		RBM34	ENSG00000188739.15	transcript	ENST00000408888.8	protein_coding	3/10						chr1	TogoVar
RBM38_chr20_57386396_57414333	57391986	T T	TCCCGCCC others(21): Show TCCCGCCCCCACCACCCCAGGCCCCGGCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02004.hp1 HG02004.hp2 others(3): Show HG01243.hp2 HG02004.hp1 HG02004.hp2 HG02896.hp1 HG02897.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0036 a0001c0001t0001g0085 a0001c0001t0001g0086 others(2): Show a0001c0001t0001g0036 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0009g0084	6	393	0.0153	28	c.237 others(43): Show c.237+172_237+199dupGCCCCCACCACCCCAGGCCCCGGCCCCC		RBM38	ENSG00000132819.17	transcript	ENST00000356208.10	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
RBM42_chr19_35624036_35642685	35638908	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG03834.hp1 NA18952.hp1 others(4): Show HG01358.hp2 HG03834.hp1 NA18952.hp1 NA18971.hp2 NA19063.hp2 NA19066.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0001 a0001c0001t0001g0015	7	12	0.5833	28	c.13 others(39): Show c.1354_*1355insAAAAAAAAAAAAAAAAAAAAAAAAAAAA		RBM42	ENSG00000126254.12	transcript	ENST00000262633.9	protein_coding					1224		chr19	TogoVar
RBM47_chr4_40418280_40634864	40437090	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0129 a0002c0010t0001g0129	1	114	0.0088	28	c.112 others(45): Show c.1124-444_1124-443insATATATATATATATTTTTTTTTTTTTTT		RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6						chr4	TogoVar
RBM47_chr4_40418280_40634864	40498054	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA18944.hp2 NA18945.hp1 others(1): Show HG00735.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0007	a0001c0001t0007 a0001c0003t0004 a0002c0002t0068 others(1): Show a0001c0001t0007 a0001c0003t0004 a0002c0002t0068 a0002c0007t0007	a0001c0001t0007g0265 a0001c0003t0004g0065 a0002c0002t0068g0250 others(1): Show a0001c0001t0007g0265 a0001c0003t0004g0065 a0002c0002t0068g0250 a0002c0007t0007g0232	4	77	0.0519	28	c.-15 others(49): Show c.-154-31356_-154-31355insTATATATATATATATATATATATA TATA		RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	2/6						chr4	TogoVar
RBM47_chr4_40418280_40634864	40573807	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02080.hp2 HG02109.hp1 others(9): Show HG01167.hp2 HG02080.hp2 HG02109.hp1 HG02155.hp2 HG02486.hp1 HG02809.hp2 HG03041.hp2 HG03688.hp2 HG04228.hp1 NA18948.hp2 NA18993.hp2 NA20300.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0001c0006 others(5): Show a0001c0001 a0001c0004 a0001c0006 a0001c0013 a0002c0002 a0002c0007 a0002c0010 a0005c0023	a0001c0001t0002 a0001c0004t0001 a0001c0004t0021 others(8): Show a0001c0001t0002 a0001c0004t0001 a0001c0004t0021 a0001c0006t0042 a0001c0013t0002 a0002c0002t0006 a0002c0002t0029 a0002c0002t0063 a0002c0007t0005 a0002c0010t0030 a0005c0023t0001	a0001c0001t0002g0078 a0001c0004t0001g0041 a0001c0004t0001g0140 others(9): Show a0001c0001t0002g0078 a0001c0004t0001g0041 a0001c0004t0001g0140 a0001c0004t0021g0034 a0001c0006t0042g0101 a0001c0013t0002g0064 a0002c0002t0006g0063 a0002c0002t0029g0022 a0002c0002t0063g0264 a0002c0007t0005g0097 a0002c0010t0030g0136 a0005c0023t0001g0061	12	111	0.1081	28	c.-23 others(49): Show c.-239-29329_-239-29302dupCTTTCTTTCTTTCTTTCTTTCTTT CTTT		RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6						chr4	TogoVar
RBM48_chr7_92523795_92545481	92544398	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02818.hp1 HG02922.hp2 others(2): Show HG02258.hp1 HG02818.hp1 HG02922.hp2 HG03209.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0044 a0001c0001t0004g0010 a0001c0001t0004g0044	5	173	0.0289	28	c.74 others(39): Show c.7461_*7462insTTTTTTTTTTTTTTTTTTTTTTTTTTTT		RBM48	ENSG00000127993.16	transcript	ENST00000265732.10	protein_coding					3918		chr7	TogoVar
RBMS1_chr2_160267151_160498807	160311220	C C	CTATATAT others(21): Show CTATATATCTATATATCTATATATCTATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp2 HG01071.hp2 others(8): Show HG00733.hp2 HG01069.hp2 HG01071.hp2 HG02300.hp1 HG02615.hp2 HG04184.hp1 NA18945.hp2 NA19009.hp2 NA19010.hp2 NA19063.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0161 a0001c0002t0001g0222 a0001c0002t0001g0224 others(8): Show a0001c0002t0001g0161 a0001c0002t0001g0222 a0001c0002t0001g0224 a0001c0002t0001g0242 a0001c0002t0001g0267 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0285 a0001c0002t0001g0303 a0001c0002t0001g0306 a0001c0002t0001g0315	11	256	0.0430	28	c.402 others(45): Show c.402+1935_402+1936insTATAGATATATAGATATATAGATATATA		RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	4/13						chr2	TogoVar
RBMS1_chr2_160267151_160498807	160311228	C C	CTATATAT others(21): Show CTATATATCTATATATCTATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0149 a0001c0001t0005g0149	1	212	0.0047	28	c.402 others(45): Show c.402+1927_402+1928insTATATATATATAGATATATAGATATATA		RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	4/13						chr2	TogoVar
RBMS1_chr2_160267151_160498807	160426218	G G	GAAGAAAG others(21): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	198	0.0051	28	c.76- others(45): Show c.76-58855_76-58828dupTCTTTCTTTCTTTCTTTCTTTCTTTCTT		RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13						chr2	TogoVar
RBMS1_chr2_160267151_160498807	160471691	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG04184.hp2 NA19070.hp1 HG02040.hp2 HG04184.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0125 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0002g0125 a0001c0001t0003g0051 a0001c0001t0003g0052	3	179	0.0168	28	c.75+ others(45): Show c.75+21597_75+21598insTATATATATATATATATATATATATATA		RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13						chr2	TogoVar
RBMS1_chr2_160267151_160498807	160471716	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01167.hp1 HG01433.hp2 others(8): Show HG00735.hp2 HG01167.hp1 HG01433.hp2 HG01515.hp2 HG01952.hp2 HG01975.hp2 HG02698.hp1 HG02818.hp2 HG03516.hp1 HG03927.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0126 a0001c0001t0002g0162 a0001c0001t0002g0164 others(8): Show a0001c0001t0002g0126 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0210 a0001c0001t0003g0166	11	138	0.0797	28	c.75+ others(45): Show c.75+21572_75+21573insTTATATATATATATATATATATATATAT		RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13						chr2	TogoVar
RBMS2_chr12_56516820_56601193	56597637	G G	GACACACA others(21): Show GACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02897.hp1 HG06807.hp1 HG02559.hp1 HG02897.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0025 a0001c0002t0004 a0001c0002t0025	a0001c0002t0004g0186 a0001c0002t0004g0228 a0001c0002t0025g0205 a0001c0002t0004g0186 a0001c0002t0004g0228 a0001c0002t0025g0205	3	64	0.0469	28	c.85 others(39): Show c.8504_*8505insACACACACACACACACACACACACACAC		RBMS2	ENSG00000076067.14	transcript	ENST00000262031.10	protein_coding					1445		chr12	TogoVar
RBMS3_chr3_29276071_30015386	29444788	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0112 a0001c0001t0020g0112	1	11	0.0909	28	c.248 others(45): Show c.248+9897_248+9898insTTTTTTTTTTTTTTTTTTTTTTTTTTTT		RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29578790	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0042 a0001c0001t0033g0042	1	74	0.0135	28	c.308 others(45): Show c.308-8302_308-8301insTTTTTTTTTTTTTTTTTTTTTTTTTTTT		RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29779706	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01981.hp1 HG01981.hp2 others(1): Show HG01106.hp1 HG01981.hp1 HG01981.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0035 a0001c0001t0070 others(1): Show a0001c0001t0022 a0001c0001t0035 a0001c0001t0070 a0001c0001t0079	a0001c0001t0022g0012 a0001c0001t0035g0105 a0001c0001t0070g0074 others(1): Show a0001c0001t0022g0012 a0001c0001t0035g0105 a0001c0001t0070g0074 a0001c0001t0079g0111	4	71	0.0563	28	c.637 others(47): Show c.637+16736_637+16737insTATATATATATATATATATATATATA TA		RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29865106	G G	GAGGAAGG others(21): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	56	0.0179	28	c.638 others(45): Show c.638-3750_638-3723dupGGAAGGAAGGAAGGAAGGAAGGAAGGAA		RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29930109	C C	CTTTCTTT others(21): Show CTTTCTTTCTTTCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0094 a0001c0001t0038g0094	1	18	0.0556	28	c.940 others(45): Show c.940-5974_940-5973insCTTTCTTTCTTTTTTTTTTTTTTTTTTT		RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	10/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29930109	C C	CTTTCTTT others(21): Show CTTTCTTTCTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01934.hp2 HG01993.hp2 others(4): Show HG00140.hp1 HG01934.hp2 HG01993.hp2 HG02040.hp1 HG02083.hp2 HG02155.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0022 a0001c0001t0024 others(4): Show a0001c0001t0006 a0001c0001t0022 a0001c0001t0024 a0001c0001t0026 a0001c0001t0029 a0001c0001t0043 a0001c0002t0010	a0001c0001t0006g0062 a0001c0001t0022g0093 a0001c0001t0024g0019 others(4): Show a0001c0001t0006g0062 a0001c0001t0022g0093 a0001c0001t0024g0019 a0001c0001t0026g0113 a0001c0001t0029g0116 a0001c0001t0043g0101 a0001c0002t0010g0096	7	24	0.2917	28	c.940 others(45): Show c.940-5974_940-5973insCTTTCTTTTTTTTTTTTTTTTTTTTTTT		RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	10/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29930109	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0047 a0001c0001t0036g0047	1	18	0.0556	28	c.940 others(45): Show c.940-5957_940-5956insTTTTTTTTTTTTTTTTTTTTTTTTTTTT		RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	10/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMXL3_chrX_115184410_115197868	115190630	C C	CCCAACGC others(21): Show CCCAACGCCCACAGCGGAGGCCGCTCGCA	frameshift_variant frameshift_variant	HIGH	NA19090.hp2 NA19090.hp2	a0029 a0029	a0029c0043 a0029c0043	a0029c0043t0001 a0029c0043t0001	a0029c0043t0001g0000 a0029c0043t0001g0000	1	312	0.0032	28	c.119 others(37): Show c.1191_1192insAACGCCCACAGCGGAGGCCGCTCGCACC	p.Asp others(5): Show p.Asp398fs	RBMXL3	ENSG00000175718.10	transcript	ENST00000424776.5	protein_coding	1/1	1224/3459	1192/3204	398/1067		INFO_REALIGN_3_PRIME	chrX	TogoVar
RBP2_chr3_139447884_139481516	139462558	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02109.hp2 HG02257.hp1 others(4): Show HG00735.hp1 HG02109.hp2 HG02257.hp1 HG02630.hp1 HG02717.hp1 HG03834.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0103 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0002g0122	7	42	0.1667	28	c.74- others(41): Show c.74-296_74-269dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT		RBP2	ENSG00000114113.6	transcript	ENST00000232217.6	protein_coding	1/3						chr3	TogoVar
RBPJL_chr20_45301840_45322824	45305805	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02080.hp2 HG02683.hp1 others(9): Show HG02071.hp1 HG02080.hp2 HG02683.hp1 NA18941.hp2 NA18952.hp2 NA18963.hp1 NA18988.hp1 NA18995.hp2 NA18997.hp2 NA19078.hp1 NA19082.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0023 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0002g0005 a0001c0002t0001g0001 a0001c0002t0001g0086	12	21	0.5714	28	c.-11 others(39): Show c.-1118_-1117insTTTTTTTTTTTTTTTTTTTTTTTTTTTT		RBPJL	ENSG00000124232.11	transcript	ENST00000343694.8	protein_coding					1034		chr20	TogoVar
RBPMS_chr8_30379541_30577256	30445649	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02630.hp1 HG02970.hp1 others(3): Show HG02015.hp2 HG02630.hp1 HG02970.hp1 HG03041.hp2 HG03669.hp2 NA18939.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0002c0002t0002	a0001c0001t0001g0222 a0001c0001t0002g0091 a0001c0001t0002g0097 others(3): Show a0001c0001t0001g0222 a0001c0001t0002g0091 a0001c0001t0002g0097 a0001c0001t0003g0291 a0001c0001t0007g0160 a0002c0002t0002g0066	6	12	0.5000	28	c.67- others(45): Show c.67-29104_67-29103insATATATATATATATATATATATATATAT		RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30518687	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	16	0.0625	28	c.397 others(47): Show c.397+14252_397+14279dupTTTTTTTTTTTTTTTTTTTTTTTTTT TT		RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30571113	T T	TAGATGTT others(21): Show TAGATGTTAGAAACAGAACTGTTATTTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp2 HG03516.hp1 HG02615.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0017 a0001c0001t0013 a0001c0001t0017	a0001c0001t0013g0072 a0001c0001t0017g0006 a0001c0001t0013g0072 a0001c0001t0017g0006	2	302	0.0066	28	c.59 others(37): Show c.591_*618dupATGTTAGAAACAGAACTGTTATTTGCAG		RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	9/9				12195	INFO_REALIGN_3_PRIME	chr8	TogoVar
RC3H1_chr1_173926084_174027357	173950420	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0303 a0001c0001t0021g0303	1	177	0.0056	28	c.252 others(47): Show c.2523+1565_2523+1566insTTTTTTTTTTTTTTTTTTTTTTTTTT TT		RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	14/19						chr1	TogoVar
RC3H1_chr1_173926084_174027357	173985417	C C	CAATTCTT others(21): Show CAATTCTTCCACATTTTATGTAGAAAGAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00609.hp2 others(61): Show HG00323.hp2 HG00544.hp2 HG00609.hp2 HG01123.hp1 HG01256.hp1 HG01258.hp1 HG02055.hp1 HG02083.hp1 HG02109.hp2 HG02145.hp1 HG02293.hp2 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02698.hp1 HG02735.hp1 HG02965.hp2 HG03041.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03654.hp2 HG03710.hp2 HG04184.hp2 HG04228.hp2 NA18612.hp2 NA18906.hp1 NA18940.hp1 NA18945.hp2 NA18946.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18960.hp2 NA18964.hp1 NA18971.hp2 NA18980.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18998.hp2 NA19003.hp1 NA19007.hp2 NA19011.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19074.hp1 NA19079.hp1 NA19080.hp1 NA19083.hp2 NA19084.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA20805.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0001c0006 a0001c0007 others(2): Show a0001c0001 a0001c0006 a0001c0007 a0003c0008 a0010c0012	a0001c0001t0002 a0001c0001t0013 a0001c0001t0015 others(11): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0015 a0001c0001t0023 a0001c0001t0024 a0001c0001t0040 a0001c0001t0044 a0001c0001t0051 a0001c0001t0052 a0001c0001t0061 a0001c0006t0002 a0001c0007t0026 a0003c0008t0015 a0010c0012t0002	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0230 others(58): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0263 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0294 a0001c0001t0013g0247 a0001c0001t0013g0259 a0001c0001t0013g0264 a0001c0001t0013g0270 a0001c0001t0013g0275 a0001c0001t0015g0082 a0001c0001t0015g0083 a0001c0001t0023g0095 a0001c0001t0023g0096 a0001c0001t0024g0237 a0001c0001t0024g0248 a0001c0001t0040g0245 a0001c0001t0044g0256 a0001c0001t0051g0223 a0001c0001t0052g0257 a0001c0001t0061g0077 a0001c0006t0002g0242 a0001c0006t0002g0261 a0001c0007t0026g0079 a0001c0007t0026g0080 a0003c0008t0015g0078 a0003c0008t0015g0224 a0010c0012t0002g0249	64	243	0.2634	28	c.232 others(43): Show c.232-799_232-798insATCTTTCTACATAAAATGTGGAAGAATT		RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	2/19						chr1	TogoVar
RC3H1_chr1_173926084_174027357	173985417	C C	CAATTCTT others(21): Show CAATTCTTCTACATTTTATGTAGAAAGAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp2 HG01071.hp1 others(62): Show HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01192.hp2 HG01243.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0005c0009	a0001c0001t0006 a0001c0001t0009 a0001c0001t0021 others(41): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0027 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0060 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0069 a0001c0001t0071 a0001c0001t0073 a0001c0001t0097 a0001c0002t0014 a0001c0002t0028 a0001c0002t0029 a0001c0002t0066 a0001c0002t0067 a0001c0002t0068 a0001c0002t0070 a0001c0002t0072 a0001c0002t0074 a0001c0002t0075 a0001c0002t0076 a0001c0002t0077 a0001c0002t0098 a0001c0004t0025 a0001c0004t0050 a0001c0004t0053 a0001c0005t0048 a0001c0005t0049 a0001c0005t0059 a0005c0009t0006	a0001c0001t0006g0282 a0001c0001t0006g0283 a0001c0001t0006g0284 others(61): Show a0001c0001t0006g0282 a0001c0001t0006g0283 a0001c0001t0006g0284 a0001c0001t0006g0285 a0001c0001t0006g0286 a0001c0001t0006g0287 a0001c0001t0006g0291 a0001c0001t0009g0006 a0001c0001t0009g0296 a0001c0001t0009g0297 a0001c0001t0009g0298 a0001c0001t0009g0299 a0001c0001t0009g0300 a0001c0001t0021g0004 a0001c0001t0021g0303 a0001c0001t0022g0067 a0001c0001t0022g0210 a0001c0001t0025g0084 a0001c0001t0027g0075 a0001c0001t0027g0076 a0001c0001t0042g0065 a0001c0001t0043g0094 a0001c0001t0045g0069 a0001c0001t0046g0068 a0001c0001t0047g0293 a0001c0001t0054g0279 a0001c0001t0055g0292 a0001c0001t0056g0281 a0001c0001t0057g0280 a0001c0001t0060g0290 a0001c0001t0062g0093 a0001c0001t0063g0081 a0001c0001t0064g0288 a0001c0001t0065g0225 a0001c0001t0069g0091 a0001c0001t0071g0010 a0001c0001t0073g0009 a0001c0001t0097g0304 a0001c0002t0014g0086 a0001c0002t0014g0087 a0001c0002t0014g0088 a0001c0002t0014g0090 a0001c0002t0014g0217 a0001c0002t0028g0085 a0001c0002t0028g0089 a0001c0002t0029g0213 a0001c0002t0029g0220 a0001c0002t0066g0222 a0001c0002t0067g0221 a0001c0002t0068g0215 a0001c0002t0070g0214 a0001c0002t0072g0218 a0001c0002t0074g0219 a0001c0002t0075g0212 a0001c0002t0076g0216 a0001c0002t0077g0211 a0001c0002t0098g0305 a0001c0004t0025g0072 a0001c0004t0050g0073 a0001c0004t0053g0074 a0001c0005t0048g0070 a0001c0005t0049g0071 a0001c0005t0059g0092 a0005c0009t0006g0289	65	244	0.2664	28	c.232 others(43): Show c.232-826_232-799dupATCTTTCTACATAAAATGTAGAAGAATT		RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	2/19						chr1	TogoVar
RC3H2_chr9_122839556_122910359	122850435	T T	TATAGATA others(21): Show TATAGATAGATAGATAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0126 a0001c0002t0002g0126	1	154	0.0065	28	c.338 others(45): Show c.3381-614_3381-613insCTATCTATCTATCTATCTATCTATCTAT		RC3H2	ENSG00000056586.16	transcript	ENST00000357244.7	protein_coding	20/20						chr9	TogoVar
RCAN2_chr6_46215736_46496449	46262588	T T	TTAAATAA others(21): Show TTAAATAAATAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0035 a0001c0001t0014g0035	1	47	0.0213	28	c.226 others(47): Show c.226-13720_226-13693dupTTTATTTATTTATTTATTTATTTATT TA		RCAN2	ENSG00000172348.16	transcript	ENST00000371374.6	protein_coding	2/4						chr6	TogoVar
RCAN2_chr6_46215736_46496449	46367022	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01515.hp2 HG01975.hp1 others(2): Show HG00438.hp1 HG01515.hp2 HG01975.hp1 HG02615.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0041 a0001c0001t0001g0086 a0001c0001t0001g0133 others(2): Show a0001c0001t0001g0041 a0001c0001t0001g0086 a0001c0001t0001g0133 a0001c0001t0003g0108 a0001c0001t0003g0109	5	28	0.1786	28	c.225 others(47): Show c.225+89702_225+89729dupATATATATATATATATATATATATAT AT		RCAN2	ENSG00000172348.16	transcript	ENST00000371374.6	protein_coding	2/4						chr6	TogoVar
RCBTB2_chr13_48483963_48538080	48493225	T T	TCACACAC others(21): Show TCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA19240.hp1 HG02145.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0261 a0001c0001t0001g0264	2	131	0.0153	28	c.151 others(47): Show c.1515+2938_1515+2965dupTGTGTGTGTGTGTGTGTGTGTGTGTG TG		RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	14/14						chr13	TogoVar
RCBTB2_chr13_48483963_48538080	48493311	A A	ACTCTCTC others(21): Show ACTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18951.hp1 NA18993.hp2 others(3): Show NA18950.hp2 NA18951.hp1 NA18993.hp2 NA18998.hp2 NA19055.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0104 a0001c0001t0001g0116 others(2): Show a0001c0001t0001g0017 a0001c0001t0001g0104 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0272	6	233	0.0258	28	c.151 others(47): Show c.1515+2879_1515+2880insAGAGAGAGAGAGAGAGAGAGAGAGAG AG		RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	14/14						chr13	TogoVar
RCC1L_chr7_75037183_75078802	75072155	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02886.hp2 NA19056.hp2 HG02040.hp1 HG02886.hp2 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0002c0002t0003 a0001c0001t0002 a0002c0002t0002 a0002c0002t0003	a0001c0001t0002g0184 a0002c0002t0002g0034 a0002c0002t0003g0033 a0001c0001t0002g0184 a0002c0002t0002g0034 a0002c0002t0003g0033	3	147	0.0204	28	c.324 others(45): Show c.324+1258_324+1259insATATATATATATATATATATATATATAT		RCC1L	ENSG00000274523.5	transcript	ENST00000610322.5	protein_coding	1/10						chr7	TogoVar
RCC1L_chr7_75037183_75078802	75072161	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02451.hp1 HG03710.hp1 HG01081.hp1 HG02451.hp1 HG03710.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0183 a0002c0002t0002g0100 a0002c0002t0002g0104 a0001c0001t0002g0183 a0002c0002t0002g0100 a0002c0002t0002g0104	3	82	0.0366	28	c.324 others(45): Show c.324+1225_324+1252dupATATATATATATATATATATATATATAT		RCC1L	ENSG00000274523.5	transcript	ENST00000610322.5	protein_coding	1/10						chr7	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0071	1	119	0.0084	28	c.52 others(39): Show c.5232_*5233insAAAAATATATATATATATATATATATAT		RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding					4251		chr1	TogoVar
RCL1_chr9_4787944_4866066	4831330	G G	GAAAAAAA others(21): Show GAAAAAAAGTTACTGCCCAGAGTGGCTGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02886.hp1 HG03453.hp1 HG02258.hp2 HG02886.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0014 a0002c0002t0028 a0002c0002t0004 a0002c0002t0014 a0002c0002t0028	a0002c0002t0004g0198 a0002c0002t0014g0304 a0002c0002t0028g0018 a0002c0002t0004g0198 a0002c0002t0014g0304 a0002c0002t0028g0018	3	384	0.0078	28	c.385 others(45): Show c.385-1824_385-1823insAAAAAAAGTTACTGCCCAGAGTGGCTGC		RCL1	ENSG00000120158.12	transcript	ENST00000381750.9	protein_coding	3/8						chr9	TogoVar
RCOR1_chr14_102587649_102735561	102653920	C C	CTTCTTTC others(21): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	217	0.0046	28	c.362 others(47): Show c.362-27936_362-27909dupCTTTCTTTCTTTCTTTCTTTCTTTCT TT		RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102677882	T T	TCACGCCA others(21): Show TCACGCCACTGCACTCCAGCCTGGGCACC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0001 a0001c0001t0031g0001	1	290	0.0034	28	c.362 others(45): Show c.362-4012_362-3985dupCACGCCACTGCACTCCAGCCTGGGCACC		RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR3_chr1_211254366_211321385	211259206	G G	GCCCCTCC others(21): Show GCCCCTCCCCCCTTCCCCTCCCCCCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	226	0.0044	28	c.-35 others(37): Show c.-355_-354insCCCCTCCCCCCTTCCCCTCCCCCCCTTC		RCOR3	ENSG00000117625.14	transcript	ENST00000419091.7	protein_coding					159		chr1	TogoVar
RCSD1_chr1_167625232_167713696	167627369	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0317 a0001c0001t0020g0317	1	162	0.0062	28	c.-30 others(39): Show c.-3055_-3054insTTTTTTTTTTTTTTTTTTTTTTTTTTTT		RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding					2862		chr1	TogoVar
RCSD1_chr1_167625232_167713696	167630721	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01081.hp1 HG01496.hp1 others(2): Show HG00621.hp2 HG01081.hp1 HG01496.hp1 HG02074.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0003 a0001c0010t0001 a0001c0001t0001 a0001c0001t0003 a0001c0010t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0003g0011 a0001c0010t0001g0012	5	20	0.2500	28	c.6+2 others(39): Show c.6+297_6+324dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA		RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
RCSD1_chr1_167625232_167713696	167701252	G G	GTTTCTTT others(21): Show GTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01981.hp2 HG02293.hp2 others(3): Show HG00741.hp1 HG01981.hp2 HG02293.hp2 NA18945.hp1 NA18968.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007	a0001c0001t0003g0011 a0001c0001t0003g0041 a0001c0001t0003g0214 others(3): Show a0001c0001t0003g0011 a0001c0001t0003g0041 a0001c0001t0003g0214 a0001c0001t0003g0283 a0001c0001t0006g0098 a0001c0001t0007g0182	6	106	0.0566	28	c.121 others(47): Show c.1219-3372_1219-3345dupCTTTCTTTCTTTCTTTCTTTCTTTCT TT		RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
RCSD1_chr1_167625232_167713696	167701252	G G	GTTTGTTT others(21): Show GTTTGTTTGTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0274 a0001c0001t0011g0274	1	101	0.0099	28	c.121 others(47): Show c.1219-3409_1219-3408insGTTTGTTTCTTTCTTTCTTTCTTTCT TT		RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
RDH8_chr19_10008483_10027279	10020362	A A	AAGGAAGA others(21): Show AAGGAAGAAAGGAAGGAAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	215	0.0047	28	c.443 others(43): Show c.443-341_443-340insAAAGGAAGGAAGGAAGGGAGGGAGGAAG		RDH8	ENSG00000080511.5	transcript	ENST00000591589.3	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr19	TogoVar

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