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
RASGEF1B_chr4_81421393_81476907	81466770	A A	AAAAAGAA others(14): Show AAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03669.hp2 HG03130.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0005 a0001c0001t0002 a0001c0002t0005	a0001c0001t0002g0058 a0001c0002t0005g0275 a0001c0001t0002g0058 a0001c0002t0005g0275	2	46	0.0435	21	c.-7+ others(36): Show c.-7+4999_-7+5000insCTTTCTTTCTTTCTTTCTTTT	RASGEF1B	ENSG00000138670.19	transcript	ENST00000264400.7	protein_coding	1/13			chr4	TogoVar
RASGEF1B_chr4_81421393_81476907	81466770	A A	AGAAAGAA others(14): Show AGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01952.hp1 HG00558.hp2 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0168 a0001c0001t0001g0085 a0001c0001t0001g0168	2	46	0.0435	21	c.-7+ others(36): Show c.-7+4999_-7+5000insCTTTCTTTCTTTCTTTCTTTC	RASGEF1B	ENSG00000138670.19	transcript	ENST00000264400.7	protein_coding	1/13			chr4	TogoVar
RASGEF1C_chr5_180095795_180214211	180163231	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0178 a0001c0003t0013g0178	1	203	0.0049	21	c.-6- others(38): Show c.-6-25194_-6-25174dupAAAAAAAAAAAAAAAAAAAAA	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	1/13			chr5	TogoVar
RASGRF1_chr15_78954906_79095780	78968279	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0291 a0001c0002t0004g0291	1	308	0.0032	21	c.368 others(40): Show c.3681+3586_3681+3587insCACACACACACACACACACAC	RASGRF1	ENSG00000058335.16	transcript	ENST00000558480.7	protein_coding	26/26			chr15	TogoVar
RASGRF1_chr15_78954906_79095780	79060862	A A	ATGCACCG others(14): Show ATGCACCGTTGCACAGTTGCCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp2 HG02630.hp1 others(4): Show HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02818.hp1 HG03225.hp1 HG03540.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0003t0001	a0001c0001t0001g0019 a0001c0001t0001g0242 a0001c0001t0004g0287 others(4): Show a0001c0001t0001g0019 a0001c0001t0001g0242 a0001c0001t0004g0287 a0001c0002t0001g0074 a0001c0002t0003g0035 a0001c0002t0006g0126 a0001c0003t0001g0271	7	312	0.0224	21	c.384 others(38): Show c.384-2402_384-2382dupGGGCAACTGTGCAACGGTGCA	RASGRF1	ENSG00000058335.16	transcript	ENST00000558480.7	protein_coding	2/26			chr15	TogoVar
RASGRF1_chr15_78954906_79095780	79061413	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0043 a0001c0002t0003g0043	1	38	0.0263	21	c.384 others(38): Show c.384-2933_384-2932insATATATATATATATATATATA	RASGRF1	ENSG00000058335.16	transcript	ENST00000558480.7	protein_coding	2/26			chr15	TogoVar
RASGRF1_chr15_78954906_79095780	79072267	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01978.hp2 HG03704.hp1 others(1): Show HG01123.hp1 HG01978.hp2 HG03704.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0002t0007 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0007 a0001c0004t0001	a0001c0001t0001g0120 a0001c0001t0007g0048 a0001c0002t0007g0047 others(1): Show a0001c0001t0001g0120 a0001c0001t0007g0048 a0001c0002t0007g0047 a0001c0004t0001g0034	4	30	0.1333	21	c.277 others(38): Show c.277-7762_277-7742dupAAAAAAAAAAAAAAAAAAAAA	RASGRF1	ENSG00000058335.16	transcript	ENST00000558480.7	protein_coding	1/26			chr15	TogoVar
RASGRF2_chr5_80955363_81235162	80982580	C C	CTATTATT others(14): Show CTATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG00673.hp2 others(8): Show HG00423.hp1 HG00558.hp2 HG00673.hp2 HG02486.hp2 HG02630.hp2 HG03017.hp2 HG03139.hp1 HG03471.hp1 HG03704.hp2 NA18967.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0021 a0001c0002t0014 a0001c0003t0002 a0001c0003t0005 a0001c0006t0002 a0001c0007t0014 a0001c0023t0019	a0001c0001t0001g0142 a0001c0001t0002g0180 a0001c0001t0003g0113 others(8): Show a0001c0001t0001g0142 a0001c0001t0002g0180 a0001c0001t0003g0113 a0001c0001t0007g0170 a0001c0001t0021g0091 a0001c0002t0014g0264 a0001c0003t0002g0161 a0001c0003t0005g0268 a0001c0006t0002g0274 a0001c0007t0014g0259 a0001c0023t0019g0262	11	45	0.2444	21	c.288 others(40): Show c.288+21571_288+21591dupATTATTATTATTATTATTATT	RASGRF2	ENSG00000113319.13	transcript	ENST00000265080.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASGRF2_chr5_80955363_81235162	80996471	T T	TTTCTTCT others(14): Show TTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp2 HG00621.hp2 others(35): Show HG00438.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG01081.hp2 HG01123.hp1 HG01261.hp2 HG01433.hp1 HG01516.hp1 HG01517.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02109.hp1 HG02273.hp2 HG02486.hp2 HG02647.hp2 HG02738.hp1 HG03486.hp2 HG03704.hp1 HG03942.hp1 HG06807.hp2 NA18944.hp2 NA18946.hp2 NA18952.hp2 NA18955.hp1 NA18968.hp2 NA18977.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA19002.hp2 NA19003.hp2 NA19011.hp2 NA19060.hp1 NA19068.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0013 a0002c0005 a0007c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0030 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0009 a0001c0002t0012 a0001c0003t0003 a0001c0003t0005 a0001c0003t0015 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0013t0001 a0002c0005t0054 a0007c0017t0005	a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0092 others(35): Show a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0092 a0001c0001t0001g0154 a0001c0001t0002g0193 a0001c0001t0002g0210 a0001c0001t0003g0121 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0005g0087 a0001c0001t0005g0095 a0001c0001t0012g0085 a0001c0001t0012g0088 a0001c0001t0030g0077 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0063 a0001c0002t0001g0070 a0001c0002t0001g0076 a0001c0002t0001g0081 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0219 a0001c0002t0005g0062 a0001c0002t0009g0064 a0001c0002t0009g0071 a0001c0002t0009g0078 a0001c0002t0012g0069 a0001c0003t0003g0130 a0001c0003t0005g0268 a0001c0003t0015g0158 a0001c0006t0001g0108 a0001c0006t0002g0230 a0001c0006t0003g0118 a0001c0013t0001g0147 a0002c0005t0054g0211 a0007c0017t0005g0083	38	142	0.2676	21	c.288 others(40): Show c.288+35458_288+35478dupTTCTTCTTCTTCTTCTTCTTC	RASGRF2	ENSG00000113319.13	transcript	ENST00000265080.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASGRF2_chr5_80955363_81235162	81024249	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG04115.hp1 HG02970.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0003 a0001c0014t0041 a0001c0001t0003 a0001c0014t0041	a0001c0001t0003g0123 a0001c0014t0041g0050 a0001c0001t0003g0123 a0001c0014t0041g0050	2	65	0.0308	21	c.289 others(40): Show c.289-18621_289-18601dupTTTTTTTTTTTTTTTTTTTTT	RASGRF2	ENSG00000113319.13	transcript	ENST00000265080.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASGRP3_chr2_33471649_33569731	33505153	T T	TCACCACC others(14): Show TCACCACCACCACCACCACCAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02970.hp1 HG02976.hp2 others(1): Show HG02559.hp2 HG02970.hp1 HG02976.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0173 a0001c0003t0005g0174 a0001c0003t0005g0251 others(1): Show a0001c0003t0005g0173 a0001c0003t0005g0174 a0001c0003t0005g0251 a0001c0003t0005g0256	4	293	0.0137	21	c.-26 others(40): Show c.-260-6551_-260-6531dupCCACCACCACCACCACCACCA	RASGRP3	ENSG00000152689.18	transcript	ENST00000403687.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
RASGRP3_chr2_33471649_33569731	33529487	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0153 a0001c0001t0021g0153	1	85	0.0118	21	c.108 others(40): Show c.1083+2088_1083+2089insAAAAAAAAAAAAAAAAAAAAA	RASGRP3	ENSG00000152689.18	transcript	ENST00000403687.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
RASGRP4_chr19_38404058_38431219	38428224	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG01099.hp1 others(29): Show HG00408.hp2 HG00438.hp2 HG01099.hp1 HG01978.hp1 HG02083.hp2 HG02129.hp1 HG02280.hp1 HG02300.hp2 HG02818.hp2 HG03209.hp2 HG04115.hp1 NA18939.hp1 NA18941.hp1 NA18943.hp1 NA18961.hp1 NA18968.hp1 NA18968.hp2 NA18979.hp1 NA18979.hp2 NA18985.hp1 NA18985.hp2 NA18989.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19060.hp2 NA19062.hp1 NA19080.hp1 NA19085.hp2 NA19091.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0002 a0001c0003 a0001c0008 others(4): Show a0001c0002 a0001c0003 a0001c0008 a0002c0001 a0002c0004 a0003c0005 a0006c0014	a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 others(7): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0012 a0001c0003t0015 a0001c0008t0007 a0002c0001t0001 a0002c0004t0001 a0003c0005t0001 a0006c0014t0002	a0001c0002t0001g0014 a0001c0002t0001g0078 a0001c0002t0001g0079 others(23): Show a0001c0002t0001g0014 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0141 a0001c0003t0001g0004 a0001c0003t0001g0015 a0001c0003t0001g0018 a0001c0003t0001g0036 a0001c0003t0001g0041 a0001c0003t0001g0081 a0001c0003t0001g0113 a0001c0003t0001g0118 a0001c0003t0001g0164 a0001c0003t0002g0003 a0001c0003t0002g0037 a0001c0003t0002g0096 a0001c0003t0002g0179 a0001c0003t0012g0100 a0001c0003t0015g0102 a0001c0003t0015g0144 a0001c0008t0007g0143 a0002c0001t0001g0074 a0002c0004t0001g0134 a0003c0005t0001g0007 a0003c0005t0001g0046 a0006c0014t0002g0114	32	118	0.2712	21	c.-21 others(32): Show c.-2134_-2133insATTATTATTATTATTATTATT	RASGRP4	ENSG00000171777.17	transcript	ENST00000615439.5	protein_coding		2006		chr19	TogoVar
RASL10B_chr17_35726639_35748521	35727022	C C	CGCCAAGC others(14): Show CGCCAAGCCTAGGTTCTGATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(26): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00639.hp2 HG00741.hp2 HG01168.hp1 HG01256.hp2 HG01258.hp2 HG01515.hp1 HG01952.hp2 HG02004.hp2 HG02074.hp1 HG02273.hp2 HG02602.hp1 HG02698.hp2 HG03017.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp2 NA18971.hp2 NA18989.hp1 NA19063.hp1 NA19085.hp2 NA19089.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0024 a0002c0002t0005	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0045 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0045 a0001c0001t0002g0024 a0001c0001t0005g0005 a0001c0001t0005g0044 a0001c0001t0012g0005 a0001c0001t0024g0024 a0002c0002t0005g0043	29	444	0.0653	21	c.-50 others(32): Show c.-5004_-5003insGCCAAGCCTAGGTTCTGATAA	RASL10B	ENSG00000270885.2	transcript	ENST00000603017.2	protein_coding		4616		chr17	TogoVar
RASSF6_chr4_73566550_73625436	73566929	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG02615.hp2 HG02965.hp1 others(4): Show HG01071.hp1 HG02615.hp2 HG02965.hp1 HG06807.hp2 NA18522.hp1 NA19043.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0033 a0001c0001t0001g0034 others(4): Show a0001c0001t0001g0011 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0129 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0213	7	8	0.8750	21	c.93 others(32): Show c.9305_*9306insAAAAAAAAAAAAAAAAAAAAA	RASSF6	ENSG00000169435.14	transcript	ENST00000307439.10	protein_coding		4620		chr4	TogoVar
RASSF6_chr4_73566550_73625436	73618301	T T	TCTATCTA others(14): Show TCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	2	0.5000	21	c.-35 others(38): Show c.-35+1986_-35+1987insGATAGATAGATAGATAGATAG	RASSF6	ENSG00000169435.14	transcript	ENST00000307439.10	protein_coding	1/10			chr4	TogoVar
RAVER1_chr19_10311212_10338529	10313671	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	205	0.0049	21	c.37 others(32): Show c.3782_*3783insATATATATATATATATATATA	RAVER1	ENSG00000161847.15	transcript	ENST00000617231.5	protein_coding		2540		chr19	TogoVar
RAVER1_chr19_10311212_10338529	10313672	T T	TATATATA others(14): Show TATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	364	0.0027	21	c.37 others(32): Show c.3781_*3782insTATATATATATATATATATAT	RAVER1	ENSG00000161847.15	transcript	ENST00000617231.5	protein_coding		2539		chr19	TogoVar
RAVER2_chr1_64740075_64838232	64824932	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	66	0.0152	21	c.193 others(40): Show c.1930-5900_1930-5880dupAAAAAAAAAAAAAAAAAAAAA	RAVER2	ENSG00000162437.15	transcript	ENST00000294428.8	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
RB1CC1_chr8_52617458_52719435	52699830	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0135 a0001c0002t0001g0135	1	142	0.0070	21	c.-16 others(42): Show c.-166-12864_-166-12863insATATATATATATTTTTTTTTT	RB1CC1	ENSG00000023287.13	transcript	ENST00000025008.10	protein_coding	1/23			chr8	TogoVar
RB1CC1_chr8_52617458_52719435	52699830	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0079	1	142	0.0070	21	c.-16 others(42): Show c.-166-12864_-166-12863insATATATATATATATATATTTT	RB1CC1	ENSG00000023287.13	transcript	ENST00000025008.10	protein_coding	1/23			chr8	TogoVar
RB1_chr13_48298751_48486890	48300330	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18959.hp1 NA18968.hp2 NA18955.hp2 NA18959.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0097	3	233	0.0129	21	c.-35 others(32): Show c.-3583_-3582insTTTTTTTTTTTTTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3420		chr13	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATTTTT others(14): Show ATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG02615.hp1 others(2): Show HG02451.hp1 HG02559.hp1 HG02615.hp1 HG03139.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0189	5	27	0.1852	21	c.-35 others(32): Show c.-3577_-3576insTATTTTTTTTTTTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RBBP4_chr1_32646208_32691211	32687833	A A	AATTATTA others(14): Show AATTATTATTATTATTATTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01123.hp1 HG02132.hp1 others(19): Show HG00544.hp1 HG01123.hp1 HG02132.hp1 HG02165.hp2 HG02559.hp1 HG02976.hp2 HG03453.hp1 HG03669.hp2 HG06807.hp1 NA18947.hp1 NA18950.hp2 NA18961.hp1 NA18961.hp2 NA18982.hp2 NA18987.hp1 NA18989.hp1 NA18994.hp2 NA19065.hp1 NA19079.hp2 NA19084.hp2 NA19085.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0024 a0001c0002t0013 a0001c0004t0005	a0001c0001t0001g0002 a0001c0001t0001g0095 a0001c0001t0004g0003 others(12): Show a0001c0001t0001g0002 a0001c0001t0001g0095 a0001c0001t0004g0003 a0001c0001t0004g0010 a0001c0001t0004g0015 a0001c0001t0004g0190 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0199 a0001c0001t0007g0189 a0001c0001t0008g0002 a0001c0001t0009g0058 a0001c0001t0024g0201 a0001c0002t0013g0019 a0001c0004t0005g0050	22	258	0.0853	21	c.81 others(32): Show c.8128_*8129insATTATTATTATTATTATTATT	RBBP4	ENSG00000162521.19	transcript	ENST00000373493.10	protein_coding		1623		chr1	TogoVar
RBBP4_chr1_32646208_32691211	32687854	T T	TATTATTA others(14): Show TATTATTATTATTATTATTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02970.hp1 HG01884.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0021 a0001c0002t0014g0021	2	310	0.0065	21	c.81 others(32): Show c.8149_*8150insATTATTATTATTATTATTATG	RBBP4	ENSG00000162521.19	transcript	ENST00000373493.10	protein_coding		1644		chr1	TogoVar
RBBP7_chrX_16839341_16875362	16866554	A A	AAAAAAAA others(14): Show AAAAAAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0170 a0001c0001t0004g0170	1	170	0.0059	21	c.161 others(38): Show c.161+2521_161+2522insCTTTCTTTCTTTCTTTTTTTT	RBBP7	ENSG00000102054.18	transcript	ENST00000380087.7	protein_coding	2/11			chrX	TogoVar
RBCK1_chr20_403299_437139	407974	C C	CCCGCCCC others(14): Show CCCGCCCCCGGCCCCGCCCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG00438.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0117 a0001c0001t0003g0023 a0001c0001t0003g0117	2	450	0.0044	21	c.-78 others(30): Show c.-784_-783insCCGCCCCCGGCCCCGCCCCGG	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding		324		chr20	TogoVar
RBFOX1_chr16_6014024_7718340	6060122	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03540.hp1 HG03139.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0023 a0001c0002t0038 a0001c0001t0023 a0001c0002t0038	a0001c0001t0023g0047 a0001c0002t0038g0023 a0001c0001t0023g0047 a0001c0002t0038g0023	2	3	0.6667	21	c.-12 others(42): Show c.-127+40146_-127+40166dupTTTTTTTTTTTTTTTTTTTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6562883	T T	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0003 a0001c0001t0043g0003	1	61	0.0164	21	c.-63 others(40): Show c.-63-91720_-63-91719insCTTTCTTTCTTTCTTTCTTTC	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15			chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6767944	T T	TAAGAAGA others(14): Show TAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0022 a0001c0001t0042g0022	1	54	0.0185	21	c.-16 others(42): Show c.-16+113296_-16+113297insGAAGAAGAAGAAGAAGAAGAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6767947	T T	TAATAAGA others(14): Show TAATAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0023 a0001c0002t0038g0023	1	36	0.0278	21	c.-16 others(42): Show c.-16+113299_-16+113300insTAAGAAGAAGAAGAAGAAGAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6806837	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp2 HG00280.hp1 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0024 a0001c0001t0002 a0001c0001t0024	a0001c0001t0002g0005 a0001c0001t0024g0008 a0001c0001t0002g0005 a0001c0001t0024g0008	2	52	0.0385	21	c.-16 others(42): Show c.-16+152187_-16+152188insATATATATATATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15			chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6863725	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	5	0.2000	21	c.-15 others(42): Show c.-15-188325_-15-188305dupTTTTTTTTTTTTTTTTTTTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6927414	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0042 a0001c0001t0027g0042	1	7	0.1429	21	c.-15 others(42): Show c.-15-124638_-15-124618dupAAAAAAAAAAAAAAAAAAAAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6986195	T T	TATTTATT others(14): Show TATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18522.hp2 NA20300.hp2 HG02630.hp2 NA18522.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027	a0001c0001t0025g0048 a0001c0001t0026g0051 a0001c0001t0027g0042 a0001c0001t0025g0048 a0001c0001t0026g0051 a0001c0001t0027g0042	3	68	0.0441	21	c.-15 others(40): Show c.-15-65842_-15-65841insAATTTATTTATTTATTTATTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7023564	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0047 a0001c0001t0023g0047	1	18	0.0556	21	c.-15 others(40): Show c.-15-28483_-15-28463dupAAAAAAAAAAAAAAAAAAAAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7034827	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTCTTTTTTCTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01192.hp2 HG02148.hp1 others(1): Show HG00140.hp1 HG01192.hp2 HG02148.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0035	a0001c0001t0001g0059 a0001c0001t0002g0016 a0001c0001t0003g0010 others(1): Show a0001c0001t0001g0059 a0001c0001t0002g0016 a0001c0001t0003g0010 a0001c0001t0035g0065	4	48	0.0833	21	c.-15 others(40): Show c.-15-17219_-15-17218insCTTTTTTCTTTTTTTTTTTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7080042	G G	GTATATAT others(14): Show GTATATATATATACATATTATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0040	1	38	0.0263	21	c.27+ others(38): Show c.27+27951_27+27971dupTATATACATATTATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7165387	G G	GTAATAAT others(14): Show GTAATAATAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03195.hp1 HG02630.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0030 a0001c0001t0007 a0001c0001t0030	a0001c0001t0007g0039 a0001c0001t0030g0024 a0001c0001t0007g0039 a0001c0001t0030g0024	2	5	0.4000	21	c.27+ others(40): Show c.27+113291_27+113311dupAATAATAATAATAATAATAAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79120735	T T	TGGAAGGG others(14): Show TGGAAGGGTGGGTGGGTGGATG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	152	0.0066	21	c.-33 others(38): Show c.-33-4988_-33-4987insCATCCACCCACCCACCCTTCC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79170140	G G	GGAAGGAA others(14): Show GGAAGGAAGGGAGGAGGAAGGA	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18906.hp2 HG03130.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0026 a0001c0001t0004 a0001c0001t0026	a0001c0001t0004g0094 a0001c0001t0026g0106 a0001c0001t0004g0094 a0001c0001t0026g0106	2	139	0.0144	21	c.-33 others(40): Show c.-33-54393_-33-54392insTCCTTCCTCCTCCCTTCCTTC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79318854	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03453.hp1 HG03453.hp2 others(1): Show HG02895.hp2 HG03453.hp1 HG03453.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0002t0002 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0002t0002 a0001c0002t0004	a0001c0001t0004g0122 a0001c0001t0005g0142 a0001c0002t0002g0153 others(1): Show a0001c0001t0004g0122 a0001c0001t0005g0142 a0001c0002t0002g0153 a0001c0002t0004g0126	4	30	0.1333	21	c.-17 others(42): Show c.-174-11051_-174-11031dupTTTTTTTTTTTTTTTTTTTTT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	2/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611130	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG02630.hp1 HG01934.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0081 a0001c0001t0001g0060 a0001c0001t0001g0081	2	36	0.0556	21	c.-62 others(30): Show c.-625_-624insGAGAGAGAGAGAGAGAGAGAG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		80		chr17	TogoVar
RBL1_chr20_36991349_37100997	37002336	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 NA19084.hp2 HG01169.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0322 a0001c0001t0002g0347 a0001c0001t0002g0322 a0001c0001t0002g0347	2	180	0.0111	21	c.303 others(40): Show c.3036+1345_3036+1365dupAAAAAAAAAAAAAAAAAAAAA	RBL1	ENSG00000080839.12	transcript	ENST00000373664.8	protein_coding	21/21			chr20	TogoVar
RBL1_chr20_36991349_37100997	37058115	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0309 a0001c0001t0002g0309	1	265	0.0038	21	c.125 others(40): Show c.1251-1858_1251-1857insTTTTTTTTTTTTTTTTTTTTT	RBL1	ENSG00000080839.12	transcript	ENST00000373664.8	protein_coding	9/21			chr20	TogoVar
RBL2_chr16_53429471_53496648	53457258	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03540.hp1 HG01884.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0007 a0001c0005t0001 a0001c0001t0007 a0001c0005t0001	a0001c0001t0007g0083 a0001c0005t0001g0084 a0001c0001t0007g0083 a0001c0005t0001g0084	2	106	0.0189	21	c.118 others(40): Show c.1180-2174_1180-2173insTTTTTTTTTTTTTTTTTTTTT	RBL2	ENSG00000103479.17	transcript	ENST00000262133.11	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBM17_chr10_6084034_6122447	6098556	G G	GGTTTTTG others(14): Show GGTTTTTGTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0105 a0001c0001t0006g0105	1	266	0.0038	21	c.123 others(38): Show c.123+1368_123+1369insGTTTTTGTTTTTTTTTTTTTT	RBM17	ENSG00000134453.16	transcript	ENST00000379888.9	protein_coding	2/11			chr10	TogoVar
RBM17_chr10_6084034_6122447	6118157	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0216 a0001c0001t0008g0216	1	171	0.0058	21	c.26 others(32): Show c.2601_*2602insTTTTTTTTTTTTTTTTTTTTT	RBM17	ENSG00000134453.16	transcript	ENST00000379888.9	protein_coding		711		chr10	TogoVar
RBM18_chr9_122232622_122269840	122261929	G G	GGAAGAGG others(14): Show GGAAGAGGCAATATAGCAAAGA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0194 a0001c0001t0004g0194	1	377	0.0027	21	c.-16 others(36): Show c.-16-442_-16-422dupTCTTTGCTATATTGCCTCTTC	RBM18	ENSG00000119446.14	transcript	ENST00000417201.4	protein_coding	1/5			chr9	TogoVar
RBM19_chr12_113817057_113971325	113944093	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0051	1	109	0.0092	21	c.162 others(40): Show c.1627-1680_1627-1660dupAAAAAAAAAAAAAAAAAAAAA	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	13/23			chr12	TogoVar

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