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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RFX3_chr9_3213297_3531001	3366693	C C	CCTTCTTT others(24): Show CCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0068 a0001c0001t0022g0068	1	45	0.0222	31	c.118 others(50): Show c.118-19930_118-19929insAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAG	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	2/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504875	T T	TATAATAT others(24): Show TATAATATTATATATAACATATATTATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0040 a0001c0001t0014g0040	1	175	0.0057	31	c.-9+ others(48): Show c.-9+20871_-9+20872insTATATATAATATATGTTATATATAATAT TAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504900	T T	TTATATAT others(24): Show TTATATATATATATATAATATAACATATATTA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0163 a0001c0001t0006g0163	1	156	0.0064	31	c.-9+ others(48): Show c.-9+20846_-9+20847insTAATATATGTTATATTATATATATATAT ATA	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3505333	T T	TATATAAA others(24): Show TATATAAAATAAAATATTTTTATTTATATAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	131	0.0076	31	c.-9+ others(48): Show c.-9+20413_-9+20414insTTTATATAAATAAAAATATTTTATTTTA TAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RGPD1_chr2_86937118_87018976	86942511	G G	GGGCGGCG others(24): Show GGGCGGCGGCGGCGGCCTCGACCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	92	0.0109	31	c.72+ others(44): Show c.72+216_72+246dupGGCCTCGACCTGGCCGGGCGGCGGCGGCGGC	RGPD1	ENSG00000187627.18	transcript	ENST00000641458.2	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD2_chr2_87750960_87830796	87824786	G G	GAGGCCGA others(24): Show GAGGCCGAGGCCGCCGCCGCCGCCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG01070.hp2 others(18): Show HG00099.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01993.hp1 HG02683.hp1 HG02738.hp2 HG03041.hp2 HG03490.hp2 HG03492.hp2 NA18980.hp1 NA19057.hp2 NA20805.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0012	a0001c0001 a0002c0003 a0004c0005 others(1): Show a0001c0001 a0002c0003 a0004c0005 a0012c0026	a0001c0001t0001 a0002c0003t0001 a0004c0005t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0004c0005t0001 a0012c0026t0001	a0001c0001t0001g0002 a0001c0001t0001g0050 a0001c0001t0001g0052 others(17): Show a0001c0001t0001g0002 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0071 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0132 a0001c0001t0001g0170 a0002c0003t0001g0103 a0004c0005t0001g0080 a0004c0005t0001g0126 a0004c0005t0001g0128 a0012c0026t0001g0135	21	114	0.1842	31	c.72+ others(44): Show c.72+841_72+871dupGGCCGGGCGGCGGCGGCGGCGGCCTCGGCCT	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGPD3_chr2_106398406_106473413	106466897	G G	GGCTGCCG others(24): Show GGCTGCCGCCGCCTGGCCAGGTCGAGGCCGCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02895.hp2 NA21309.hp2 HG02647.hp1 HG02895.hp2 NA21309.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0007 a0001c0022t0001 a0001c0022t0007	a0001c0022t0001g0218 a0001c0022t0001g0219 a0001c0022t0007g0259 a0001c0022t0001g0218 a0001c0022t0001g0219 a0001c0022t0007g0259	3	380	0.0079	31	c.72+ others(46): Show c.72+1319_72+1320insGGCGGCCTCGACCTGGCCAGGCGGCGGCAG C	RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	1/22			chr2	TogoVar
RGS12_chr4_3288021_3444913	3341354	A A	AAGGGTGG others(24): Show AAGGGTGGAGAGATGGGGGTACGGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01358.hp2 HG01496.hp1 others(4): Show HG00099.hp1 HG01358.hp2 HG01496.hp1 HG01928.hp2 HG01943.hp2 HG01978.hp2 HG06807.hp1	a0001 a0010 a0014 a0001 a0010 a0014	a0001c0002 a0010c0044 a0014c0045 a0001c0002 a0010c0044 a0014c0045	a0001c0002t0001 a0010c0044t0001 a0014c0045t0001 a0001c0002t0001 a0010c0044t0001 a0014c0045t0001	a0001c0002t0001g0170 a0001c0002t0001g0180 a0001c0002t0001g0185 others(4): Show a0001c0002t0001g0170 a0001c0002t0001g0180 a0001c0002t0001g0185 a0001c0002t0001g0191 a0001c0002t0001g0192 a0010c0044t0001g0186 a0014c0045t0001g0165	7	310	0.0226	31	c.188 others(50): Show c.1882-1567_1882-1537dupGGGTACGGGGGGAGGGAGGGTGGAGA GATGG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3341470	C C	CGGGGGGA others(24): Show CGGGGGGAGGGAGGGTGGAGAGATGGGGGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03041.hp1 HG02055.hp1 HG03041.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0001 a0004c0019t0001	a0004c0019t0001g0006 a0004c0019t0001g0007 a0004c0019t0001g0006 a0004c0019t0001g0007	2	305	0.0066	31	c.188 others(50): Show c.1882-1438_1882-1437insGTGGGGGGAGGGAGGGTGGAGAGATG GGGGT	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3359191	C C	CCCCCTTC others(24): Show CCCCCTTCTCCCCCCTCCTCCCCCCTTCTCCT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0001 a0002c0029t0001	a0002c0029t0001g0160 a0002c0029t0001g0160	1	308	0.0032	31	c.199 others(52): Show c.1998+16143_1998+16144insTCTCCCCCCTCCTCCCCCCTTCTC CTCCCCT	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS14_chr5_177352924_177377596	177371067	G G	GCGGGGCG others(24): Show GCGGGGCGGGGCGGGGCGGGGCGGGGCCGGGC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02647.hp1 NA20129.hp2 HG01167.hp2 HG02647.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0050 a0002c0002t0001g0021 a0002c0002t0001g0050	3	389	0.0077	31	c.125 others(46): Show c.1254+37_1254+38insGGGGCGGGGCGGGGCGGGGCGGGGCCGGGC C	RGS14	ENSG00000169220.18	transcript	ENST00000408923.8	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
RGS17_chr6_152999459_153136282	153071122	A A	AGTACATA others(24): Show AGTACATATTGTATATGTACATATGTGTATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG04115.hp2 HG02602.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0041 a0001c0001t0025g0049 a0001c0001t0001g0041 a0001c0001t0025g0049	2	336	0.0060	31	c.-25 others(50): Show c.-25-27110_-25-27080dupATATACACATATGTACATATACAATA TGTAC	RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4			chr6	TogoVar
RGS20_chr8_53846795_53964303	53947592	A A	ATATAGGA others(24): Show ATATAGGATATAGTATATACATTTATATATGC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	256	0.0039	31	c.743 others(46): Show c.743+848_743+849insGGATATAGTATATACATTTATATATGCTAT A	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGS20_chr8_53846795_53964303	53948532	T T	TATATTTA others(24): Show TATATTTACATATGCTATATATGATACAGTAC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	248	0.0040	31	c.743 others(48): Show c.743+1868_743+1898dupGATACAGTACATATTTACATATGCTATA TAT	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGS20_chr8_53846795_53964303	53948883	C C	CATATGCT others(24): Show CATATGCTATATAAGATACAGTATATATTTAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	99	0.0101	31	c.743 others(48): Show c.743+2157_743+2158insTATATTTATATATGCTATATAAGATACA GTA	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGS20_chr8_53846795_53964303	53948968	C C	CATATTTA others(24): Show CATATTTACATATGCTATATAAGATACAGTAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0208 a0001c0001t0011g0208	1	12	0.0833	31	c.743 others(48): Show c.743+2228_743+2258dupCATATGCTATATAAGATACAGTATATAT TTA	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGS20_chr8_53846795_53964303	53948976	C C	CATATGCT others(24): Show CATATGCTATATAAGATACAGTATATATTTAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	21	0.0476	31	c.743 others(48): Show c.743+2450_743+2480dupGCTATATAAGATACAGTATATATTTATA TAT	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGS22_chr8_99955936_100111049	100051720	T T	TGTATAAA others(24): Show TGTATAAATATATAAAAAAATATATATATTTA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0091 a0004c0006t0001g0091	1	144	0.0069	31	c.168 others(50): Show c.1689+1081_1689+1082insTAAATATATATATTTTTTTATATATT TATAC	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	10/27			chr8	TogoVar
RGS3_chr9_113458727_113602738	113600699	A A	AGTGCCAC others(24): Show AGTGCCACTCAGTTGGATGCCAGCAGGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02148.hp2 HG03490.hp2 others(3): Show HG02132.hp1 HG02148.hp2 HG03490.hp2 NA18957.hp1 NA18983.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0003 others(3): Show a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006	6	166	0.0361	31	c.37 others(42): Show c.3746_*3747insGTGCCACTCAGTTGGATGCCAGCAGGAGGGG	RGS3	ENSG00000138835.24	transcript	ENST00000695401.1	protein_coding		2962		chr9	TogoVar
RGS5_chr1_163137299_163207916	163180686	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	128	0.0078	31	c.45- others(48): Show c.45-12319_45-12318insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	RGS5	ENSG00000143248.13	transcript	ENST00000313961.10	protein_coding	1/4			chr1	TogoVar
RGS6_chr14_71927429_72571530	72053041	C C	CTCCCTCC others(24): Show CTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0129 a0001c0001t0003g0129	1	126	0.0079	31	c.84+ others(48): Show c.84+88179_84+88180insTCCCTCCCTTCCCTCCCTTCCCTCCCTC CCT	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGS7BP_chr5_64501015_64617319	64566177	G G	GTATGATA others(24): Show GTATGATAAACAGATGCCAACTTACTACCCTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02895.hp2 HG02451.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0036 a0001c0001t0004g0015 a0001c0001t0004g0036	2	278	0.0072	31	c.333 others(48): Show c.333-9595_333-9565dupATGATAAACAGATGCCAACTTACTACCC TCT	RGS7BP	ENSG00000186479.5	transcript	ENST00000334025.3	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
RGS7BP_chr5_64501015_64617319	64606025	T T	TATATATG others(24): Show TATATATGCTATATATATGTATATCTGGATAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18906.hp2 HG02559.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0254 a0001c0001t0004g0255	2	278	0.0072	31	c.683 others(48): Show c.683-3130_683-3129insGCTATATATATGTATATCTGGATACATA TAT	RGS7BP	ENSG00000186479.5	transcript	ENST00000334025.3	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
RGS7_chr1_240770514_241362205	240955551	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	4	0.2500	31	c.227 others(50): Show c.227-18876_227-18846dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	4/18			chr1	TogoVar
RHOA_chr3_49354145_49416976	49399054	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	35	0.0286	31	c.-3+ others(48): Show c.-3+12735_-3+12765dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RHOA	ENSG00000067560.14	transcript	ENST00000418115.6	protein_coding	1/4			chr3	TogoVar
RHOB_chr2_20442074_20454440	20442568	A A	ATATTTTT others(24): Show ATATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	63	0.0159	31	c.-48 others(42): Show c.-4898_-4897insTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RHOB	ENSG00000143878.10	transcript	ENST00000272233.6	protein_coding		4505		chr2	TogoVar
RHOB_chr2_20442074_20454440	20442568	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG02040.hp2 HG02300.hp2 others(5): Show HG01981.hp2 HG02040.hp2 HG02300.hp2 HG03654.hp1 HG03688.hp1 NA18906.hp2 NA18953.hp1 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0001g0000 a0001c0001t0004g0000	8	70	0.1143	31	c.-48 others(42): Show c.-4898_-4897insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RHOB	ENSG00000143878.10	transcript	ENST00000272233.6	protein_coding		4505		chr2	TogoVar
RIMBP2_chr12_130391133_130721299	130712376	T T	TTTTCCCT others(24): Show TTTTCCCTATTTGATGTTTTTGTTTTGTTTGC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0109 a0001c0011t0001g0109	1	178	0.0056	31	c.-35 others(50): Show c.-352+3845_-352+3846insGCAAACAAAACAAAAACATCAAATAG GGAAA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP3B_chr22_21378751_21394478	21379104	T T	TCCTGATC others(24): Show TCCTGATCTCAAGTGATCCACCCACCTTGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG00642.hp2 others(29): Show HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG01071.hp2 HG01175.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02683.hp1 HG02818.hp1 HG03041.hp1 HG03471.hp2 HG03579.hp1 HG03704.hp1 HG03927.hp2 HG04115.hp1 HG04204.hp1 NA18747.hp2 NA18966.hp2 NA18979.hp1 NA20129.hp2 NA20905.hp1 NA20905.hp2	a0001 a0007 a0009 others(13): Show a0001 a0007 a0009 a0010 a0011 a0013 a0018 a0020 a0021 a0023 a0039 a0042 a0044 a0058 a0070 a0073	a0001c0002 a0001c0003 a0001c0005 others(16): Show a0001c0002 a0001c0003 a0001c0005 a0007c0009 a0009c0069 a0009c0078 a0010c0016 a0011c0012 a0013c0072 a0018c0079 a0020c0076 a0021c0082 a0023c0080 a0039c0084 a0042c0071 a0044c0077 a0058c0010 a0070c0017 a0073c0083	a0001c0002t0003 a0001c0003t0003 a0001c0005t0003 others(16): Show a0001c0002t0003 a0001c0003t0003 a0001c0005t0003 a0007c0009t0001 a0009c0069t0004 a0009c0078t0003 a0010c0016t0001 a0011c0012t0011 a0013c0072t0007 a0018c0079t0003 a0020c0076t0001 a0021c0082t0002 a0023c0080t0001 a0039c0084t0004 a0042c0071t0001 a0044c0077t0005 a0058c0010t0003 a0070c0017t0002 a0073c0083t0002	a0001c0002t0003g0000 a0001c0003t0003g0000 a0001c0005t0003g0000 others(16): Show a0001c0002t0003g0000 a0001c0003t0003g0000 a0001c0005t0003g0000 a0007c0009t0001g0000 a0009c0069t0004g0000 a0009c0078t0003g0000 a0010c0016t0001g0000 a0011c0012t0011g0000 a0013c0072t0007g0000 a0018c0079t0003g0000 a0020c0076t0001g0000 a0021c0082t0002g0000 a0023c0080t0001g0000 a0039c0084t0004g0000 a0042c0071t0001g0000 a0044c0077t0005g0000 a0058c0010t0003g0000 a0070c0017t0002g0000 a0073c0083t0002g0000	32	118	0.2712	31	c.-47 others(42): Show c.-4755_-4754insCCTGATCTCAAGTGATCCACCCACCTTGGCC	RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding		4646		chr22	TogoVar
RIMOC1_chr5_41899344_41926636	41901253	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	5	0.2000	31	c.-31 others(42): Show c.-3115_-3114insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RIMOC1	ENSG00000205765.10	transcript	ENST00000381647.7	protein_coding		3090		chr5	TogoVar
RIMS1_chr6_71881550_72408145	72152838	G G	GTATATAT others(24): Show GTATATATATGGAATATATGTATATATATGTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01169.hp1 HG01952.hp1 others(13): Show HG00140.hp2 HG01169.hp1 HG01952.hp1 HG02004.hp1 HG02165.hp2 HG02280.hp1 HG02559.hp2 HG02647.hp1 HG03130.hp2 HG03516.hp2 HG03669.hp2 HG03834.hp2 NA18522.hp1 NA18747.hp1 NA19057.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0003t0003 a0001c0009t0005	a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0040 others(13): Show a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0063 a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0003g0077 a0001c0001t0005g0028 a0001c0001t0005g0106 a0001c0001t0007g0035 a0001c0001t0007g0126 a0001c0001t0008g0031 a0001c0001t0011g0009 a0001c0003t0003g0096 a0001c0009t0005g0103	16	48	0.3333	31	c.472 others(50): Show c.472-26730_472-26729insATGGAATATATGTATATATATGTATA TATAT	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	4/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIN3_chr14_92508781_92693994	92561044	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03225.hp2 NA18983.hp2 HG02683.hp1 HG03225.hp2 NA18983.hp2	a0004 a0005 a0022 a0004 a0005 a0022	a0004c0004 a0005c0006 a0022c0032 a0004c0004 a0005c0006 a0022c0032	a0004c0004t0001 a0005c0006t0001 a0022c0032t0011 a0004c0004t0001 a0005c0006t0001 a0022c0032t0011	a0004c0004t0001g0180 a0005c0006t0001g0060 a0022c0032t0011g0010 a0004c0004t0001g0180 a0005c0006t0001g0060 a0022c0032t0011g0010	3	81	0.0370	31	c.249 others(48): Show c.249+5089_249+5090insTATATATATATATATATATATATATATA TAT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9			chr14	TogoVar
RINT1_chr7_105527201_105572677	105570240	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	200	0.0050	31	c.29 others(42): Show c.2929_*2930insAAAAAAAAAATATATATATATATATATATAT	RINT1	ENSG00000135249.8	transcript	ENST00000257700.7	protein_coding		2564		chr7	TogoVar
RINT1_chr7_105527201_105572677	105570240	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	200	0.0050	31	c.29 others(42): Show c.2929_*2930insAAAAAAAATATATATATATATATATATATAT	RINT1	ENSG00000135249.8	transcript	ENST00000257700.7	protein_coding		2564		chr7	TogoVar
RIPK1_chr6_3063494_3120187	3092798	T T	TAACCGCA others(24): Show TAACCGCAGAGCGCCTACCTGCCGCACCTCGG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	298	0.0034	31	c.915 others(48): Show c.915+3149_915+3150insAGCGCCTACCTGCCGCACCTCGGAACCG CAG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RLBP1_chr15_89204869_89226579	89224397	T T	TCCTGAGT others(24): Show TCCTGAGTAGCTGGGATTACAGGTGCCCACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	412	0.0024	31	c.-30 others(42): Show c.-3087_-3086insTGGTGGGCACCTGTAATCCCAGCTACTCAGG	RLBP1	ENSG00000140522.12	transcript	ENST00000268125.10	protein_coding		2819		chr15	TogoVar
RMDN3_chr15_40730887_40760254	40732142	T T	TAGTTATT others(24): Show TAGTTATTAGTAGTGAATGTGCTGTTTATAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	402	0.0025	31	c.43 others(42): Show c.4368_*4398dupGCTATAAACAGCACATTCACTACTAATAACT	RMDN3	ENSG00000137824.16	transcript	ENST00000338376.8	protein_coding		3744		chr15	TogoVar
RMND5A_chr2_86715291_86783041	86737592	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0029 a0001c0004t0006g0029	2	277	0.0072	31	c.143 others(48): Show c.143-3333_143-3332insATATATATATATATATATATATATATAT AAT	RMND5A	ENSG00000153561.13	transcript	ENST00000283632.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNASE10_chr14_20500537_20518884	20506772	C C	CTCTGCCC others(24): Show CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0073 a0001c0001t0012g0073	1	387	0.0026	31	c.-6+ others(44): Show c.-6+753_-6+754insTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1			chr14	TogoVar
RNASE2_chr14_20950487_20961436	20951885	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	142	0.0070	31	c.-36 others(42): Show c.-3657_-3656insAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGG	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3601		chr14	TogoVar
RNASET2_chr6_166917113_166961550	166952589	T T	TAAAGTTA others(24): Show TAAAGTTACAGAAAAAATTCATCCACCCATCC	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0200 a0001c0002t0036g0200	1	344	0.0029	31	c.87- others(42): Show c.87-72_87-42dupGGATGGGTGGATGAATTTTTTCTGTAACTTT	RNASET2	ENSG00000026297.17	transcript	ENST00000508775.6	protein_coding	1/8			chr6	TogoVar
RND3_chr2_150463195_150492667	150487474	A A	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	99	0.0101	31	c.-38 others(44): Show c.-38-20_-38-19insATATATATATATATATATATATATATATTTT	RND3	ENSG00000115963.14	transcript	ENST00000263895.9	protein_coding	1/5			chr2	TogoVar
RNF130_chr5_179950067_180076759	179998857	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	228	0.0044	31	c.693 others(50): Show c.693+14203_693+14204insTATATATATATATATATATATATATA TATAT	RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding	3/8			chr5	TogoVar
RNF130_chr5_179950067_180076759	179998886	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01516.hp2 HG01517.hp2 others(2): Show HG01358.hp1 HG01516.hp2 HG01517.hp2 HG03471.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0252 a0001c0001t0001g0287 a0001c0001t0001g0296 others(2): Show a0001c0001t0001g0252 a0001c0001t0001g0287 a0001c0001t0001g0296 a0001c0003t0001g0149 a0001c0003t0001g0150	5	284	0.0176	31	c.693 others(50): Show c.693+14174_693+14175insTATATATATATATATATATATATATA TATAT	RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding	3/8			chr5	TogoVar
RNF135_chr17_30966039_31004911	30985696	A A	ACTACCAC others(24): Show ACTACCACAAACATCAATCTGAAAATGTAACT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0067 a0002c0006t0003g0067	1	264	0.0038	31	c.516 others(46): Show c.516+938_516+968dupTACCACAAACATCAATCTGAAAATGTAACT C	RNF135	ENSG00000181481.14	transcript	ENST00000328381.10	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF13_chr3_149808215_149967139	149860270	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0020 a0001c0002t0004g0020	1	221	0.0045	31	c.195 others(48): Show c.195+7675_195+7676insAAAAAAAAAAAAAAATATATATATATAT ATA	RNF13	ENSG00000082996.20	transcript	ENST00000392894.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RNF13_chr3_149808215_149967139	149865343	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02630.hp1 HG02965.hp1 others(1): Show HG01243.hp2 HG02630.hp1 HG02965.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0022 a0001c0002t0004g0014 a0001c0002t0004g0015 others(1): Show a0001c0002t0002g0022 a0001c0002t0004g0014 a0001c0002t0004g0015 a0001c0002t0004g0021	4	271	0.0148	31	c.196 others(48): Show c.196-6678_196-6677insATATATATATATATATATATATAATATA TAT	RNF13	ENSG00000082996.20	transcript	ENST00000392894.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RNF141_chr11_10506673_10546187	10539699	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01167.hp1 HG01515.hp1 others(9): Show HG00099.hp2 HG01167.hp1 HG01515.hp1 HG01517.hp1 HG02257.hp1 HG02257.hp2 HG03130.hp2 HG03490.hp1 HG03492.hp1 NA18953.hp2 NA18964.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0002t0001	a0001c0001t0001g0287 a0001c0001t0003g0023 a0001c0001t0003g0179 others(5): Show a0001c0001t0001g0287 a0001c0001t0003g0023 a0001c0001t0003g0179 a0001c0001t0005g0021 a0001c0001t0011g0180 a0001c0002t0001g0032 a0001c0002t0001g0177 a0001c0002t0001g0178	12	140	0.0857	31	c.-48 others(48): Show c.-48+1422_-48+1423insTATATATATATATATATATATATATATA TAT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF17_chr13_24759169_24884921	24881696	A A	ATAGATTA others(24): Show ATAGATTATCTAGGTATATAGATATATCTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0159 a0004c0004t0002g0159	1	424	0.0024	31	c.19 others(42): Show c.1970_*1971insTAGATTATCTAGGTATATAGATATATCTATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1776		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882592	A A	AAAGTCAG others(24): Show AAAGTCAGCTCTAGTAACCATTACATTACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	424	0.0024	31	c.28 others(42): Show c.2866_*2867insAAGTCAGCTCTAGTAACCATTACATTACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2672		chr13	TogoVar

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