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
RNF183_chr9_113292093_113308376	113308170	A A	AAAAAAGA others(15): Show AAAAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 NA18991.hp2 HG01433.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	440	0.0046	22	c.-55 others(33): Show c.-5556_-5555insCTTTCTTTCTTTCTTTCTTTTT	RNF183	ENSG00000165188.14	transcript	ENST00000489339.2	protein_coding		4795		chr9	TogoVar
RNF183_chr9_113292093_113308376	113308170	A A	AAAGAAGA others(15): Show AAAGAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	440	0.0023	22	c.-55 others(33): Show c.-5556_-5555insCTTTCTTTCTTTCTTTCTTCTT	RNF183	ENSG00000165188.14	transcript	ENST00000489339.2	protein_coding		4795		chr9	TogoVar
RNF183_chr9_113292093_113308376	113308170	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 NA19009.hp2 NA19072.hp2 others(1): Show HG02165.hp1 NA19009.hp2 NA19072.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0001 a0001c0001t0012g0023 a0001c0001t0001g0001 a0001c0001t0012g0023	4	440	0.0091	22	c.-55 others(33): Show c.-5556_-5555insCTTTCTTTCTTTCTTTCTTTCT	RNF183	ENSG00000165188.14	transcript	ENST00000489339.2	protein_coding		4795		chr9	TogoVar
RNF213_chr17_80255852_80403794	80274834	A A	AGTGGGGG others(15): Show AGTGGGGGGTGAGGGGGGTGTCT	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18945.hp2 NA19065.hp2 others(1): Show HG02132.hp1 NA18945.hp2 NA19065.hp2 NA19087.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0010 a0007c0008 a0001c0001 a0002c0010 a0007c0008	a0001c0001t0001 a0001c0001t0075 a0002c0010t0004 others(1): Show a0001c0001t0001 a0001c0001t0075 a0002c0010t0004 a0007c0008t0008	a0001c0001t0001g0288 a0001c0001t0075g0287 a0002c0010t0004g0077 others(1): Show a0001c0001t0001g0288 a0001c0001t0075g0287 a0002c0010t0004g0077 a0007c0008t0008g0286	4	292	0.0137	22	c.261 others(39): Show c.261+1442_261+1443insGGGGGTGTCTGTGGGGGGTGAG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF216_chr7_5615047_5786663	5747757	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0029 a0006c0020t0029	a0006c0020t0029g0243 a0006c0020t0029g0243	1	274	0.0037	22	c.201 others(39): Show c.201+5088_201+5089insCTTTTTTTTTTTTTTTTTTTTT	RNF216	ENSG00000011275.19	transcript	ENST00000389902.8	protein_coding	3/16			chr7	TogoVar
RNF216_chr7_5615047_5786663	5768346	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01943.hp1 HG03579.hp1 others(1): Show HG01243.hp2 HG01943.hp1 HG03579.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0016 a0001c0004t0007 a0001c0001t0001 a0001c0001t0016 a0001c0004t0007	a0001c0001t0001g0081 a0001c0001t0001g0258 a0001c0001t0016g0255 others(1): Show a0001c0001t0001g0081 a0001c0001t0001g0258 a0001c0001t0016g0255 a0001c0004t0007g0151	4	274	0.0146	22	c.-69 others(39): Show c.-69-7230_-69-7209dupGTGTGTGTGTGTGTGTGTGTGT	RNF216	ENSG00000011275.19	transcript	ENST00000389902.8	protein_coding	1/16			chr7	TogoVar
RNF224_chr9_137222502_137234640	137224689	A A	AGCCTGGG others(15): Show AGCCTGGGCAACAGAGCAAGACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0001 a0003c0003t0002g0001	1	394	0.0025	22	c.-33 others(33): Show c.-3357_-3356insGCCTGGGCAACAGAGCAAGACT	RNF224	ENSG00000233198.4	transcript	ENST00000445101.4	protein_coding		2812		chr9	TogoVar
RNF24_chr20_3922311_4020558	3966469	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG03041.hp1 HG03471.hp1 others(2): Show HG02300.hp1 HG03041.hp1 HG03471.hp1 HG03579.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0032 a0001c0001t0097 a0001c0001t0001 a0001c0001t0032 a0001c0001t0097	a0001c0001t0001g0143 a0001c0001t0001g0251 a0001c0001t0001g0253 others(2): Show a0001c0001t0001g0143 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0032g0018 a0001c0001t0097g0023	5	362	0.0138	22	c.-7- others(37): Show c.-7-2467_-7-2446dupACACACACACACACACACACAC	RNF24	ENSG00000101236.17	transcript	ENST00000358395.11	protein_coding	1/5			chr20	TogoVar
RNF24_chr20_3922311_4020558	3982103	G G	GTCTCTCT others(15): Show GTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0016 a0001c0001t0032g0016	1	362	0.0028	22	c.-7- others(39): Show c.-7-18101_-7-18080dupGAGAGAGAGAGAGAGAGAGAGA	RNF24	ENSG00000101236.17	transcript	ENST00000358395.11	protein_coding	1/5			chr20	TogoVar
RNF26_chr11_119329527_119342309	119331457	A A	ATTTCTTT others(15): Show ATTTCTTTTCTTCTTTCTTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02055.hp1 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	2	422	0.0047	22	c.-36 others(33): Show c.-3666_-3665insTTTCTTTTCTTCTTTCTTTCCT	RNF26	ENSG00000173456.5	transcript	ENST00000311413.5	protein_coding		3069		chr11	TogoVar
RNF2_chr1_185040558_185107603	185082345	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01361.hp2 HG01515.hp1 others(2): Show HG00609.hp2 HG01361.hp2 HG01515.hp1 HG03831.hp2 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0001t0001 a0001c0001t0004 a0001c0001t0013	a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0093 others(2): Show a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0093 a0001c0001t0004g0131 a0001c0001t0013g0195	5	350	0.0143	22	c.-2- others(37): Show c.-2-5206_-2-5185dupTTTTTTTTTTTTTTTTTTTTTT	RNF2	ENSG00000121481.11	transcript	ENST00000367510.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF38_chr9_36331400_36405269	36336177	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0075 a0001c0003t0001g0075	1	402	0.0025	22	c.35 others(33): Show c.3574_*3575insATATATATTTTTTTTTTTTTTT	RNF38	ENSG00000137075.18	transcript	ENST00000259605.11	protein_coding		222		chr9	TogoVar
RNF38_chr9_36331400_36405269	36341793	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0075 a0001c0003t0001g0075	1	402	0.0025	22	c.148 others(39): Show c.1485+510_1485+531dupATATATATATATATATATATAT	RNF38	ENSG00000137075.18	transcript	ENST00000259605.11	protein_coding	11/11			chr9	TogoVar
RNF40_chr16_30757322_30781307	30770119	A A	ATGGATTT others(15): Show ATGGATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(95): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00673.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03710.hp1 HG04184.hp1 HG04184.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18974.hp1 NA18974.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19012.hp2 NA19030.hp1 NA19057.hp1 NA19059.hp1 NA19059.hp2 NA19063.hp2 NA19081.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 others(1): Show a0001c0001 a0001c0003 a0001c0008 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0003t0001 a0001c0008t0002 a0001c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0002g0001 a0001c0001t0009g0001 a0001c0001t0010g0001 a0001c0001t0012g0001 a0001c0003t0001g0045 a0001c0008t0002g0001 a0001c0010t0001g0001	98	230	0.4261	22	c.258 others(39): Show c.2586+520_2586+521insGGATTTTTTTTTTTTTTTTTTT	RNF40	ENSG00000103549.22	transcript	ENST00000324685.11	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr16	TogoVar
RNF4_chr4_2464106_2520857	2466647	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 NA19043.hp1 HG02572.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0290 a0001c0001t0003g0267 a0001c0001t0001g0290 a0001c0001t0003g0267	2	378	0.0053	22	c.-27 others(33): Show c.-2769_-2768insTGTGTGTGTGTGTGTGTGTGTG	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding		2458		chr4	TogoVar
RNF4_chr4_2464106_2520857	2484067	T T	TCCCCCCC others(15): Show TCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp1 HG01891.hp1 others(13): Show HG00642.hp1 HG01099.hp1 HG01891.hp1 HG01891.hp2 HG02129.hp2 HG02559.hp2 HG02717.hp2 HG02970.hp1 HG03098.hp1 HG03688.hp1 NA18943.hp2 NA18952.hp2 NA18959.hp2 NA18999.hp2 NA19007.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0022 a0001c0001t0031	a0001c0001t0001g0028 a0001c0001t0001g0347 a0001c0001t0002g0187 others(12): Show a0001c0001t0001g0028 a0001c0001t0001g0347 a0001c0001t0002g0187 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0046 a0001c0001t0004g0356 a0001c0001t0007g0006 a0001c0001t0008g0066 a0001c0001t0008g0322 a0001c0001t0008g0323 a0001c0001t0009g0220 a0001c0001t0009g0227 a0001c0001t0022g0045 a0001c0001t0031g0228	16	378	0.0423	22	c.-15 others(41): Show c.-157-6262_-157-6261insCCCCCCCCCCCCCCCCCCCCCC	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
RNF4_chr4_2464106_2520857	2518307	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0226 a0001c0001t0009g0226	1	378	0.0027	22	c.44 others(33): Show c.4488_*4489insTTTTTTTTTTTTTTTTTTTTTT	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding		2451		chr4	TogoVar
RNF4_chr4_2464106_2520857	2520450	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	378	0.0027	22	c.66 others(33): Show c.6631_*6632insTTTTTTTTTTTTTTTTTTTCTT	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding		4594		chr4	TogoVar
RNF8_chr6_37348983_37399734	37353346	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0025 a0001c0002t0004g0025	1	324	0.0031	22	c.-81 others(31): Show c.-819_-818insTTTTTTTTTTTTTTTTTTTTTT	RNF8	ENSG00000112130.17	transcript	ENST00000373479.9	protein_coding		636		chr6	TogoVar
RNFT2_chr12_116733315_116858631	116782079	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp2 HG01192.hp1 others(28): Show HG00741.hp2 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp1 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02615.hp1 HG02647.hp1 HG02818.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp2 HG03942.hp2 HG04184.hp2 HG06807.hp1 NA18906.hp2 NA18974.hp1 NA18974.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0012 a0001c0013 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0022 a0001c0002t0001 a0001c0002t0002 a0001c0002t0033 a0001c0002t0063 a0001c0002t0065 a0001c0002t0066 a0001c0004t0001 a0001c0005t0013 a0001c0007t0025 a0001c0007t0046 a0001c0012t0001 a0001c0013t0013 a0001c0014t0002	a0001c0001t0001g0094 a0001c0001t0001g0196 a0001c0001t0001g0197 others(28): Show a0001c0001t0001g0094 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0216 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0002g0023 a0001c0001t0002g0031 a0001c0001t0002g0103 a0001c0001t0003g0117 a0001c0001t0007g0231 a0001c0001t0009g0116 a0001c0001t0011g0160 a0001c0001t0012g0261 a0001c0001t0022g0223 a0001c0002t0001g0066 a0001c0002t0001g0111 a0001c0002t0002g0108 a0001c0002t0033g0150 a0001c0002t0063g0263 a0001c0002t0065g0093 a0001c0002t0066g0010 a0001c0004t0001g0113 a0001c0005t0013g0006 a0001c0007t0025g0009 a0001c0007t0025g0056 a0001c0007t0046g0053 a0001c0012t0001g0239 a0001c0013t0013g0158 a0001c0014t0002g0137	31	268	0.1157	22	c.882 others(39): Show c.882+2746_882+2747insAAAAAAAAAAAAAAAAAAAAAA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNFT2_chr12_116733315_116858631	116785249	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0034 a0001c0007t0034	a0001c0007t0034g0063 a0001c0007t0034g0063	1	268	0.0037	22	c.882 others(39): Show c.882+5906_882+5927dupTGTGTGTGTGTGTGTGTGTGTG	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNFT2_chr12_116733315_116858631	116832142	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0022 a0001c0002t0018g0022	1	268	0.0037	22	c.883 others(39): Show c.883-1649_883-1648insTATATATATATATATATATATA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNFT2_chr12_116733315_116858631	116832148	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0001 a0002c0010t0002g0001	1	268	0.0037	22	c.883 others(39): Show c.883-1643_883-1642insAAAATATATATATATATATATA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNFT2_chr12_116733315_116858631	116841896	T T	TATATATA others(15): Show TATATATAAATATATATATAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0018 a0001c0014t0018	a0001c0014t0018g0019 a0001c0014t0018g0019	1	268	0.0037	22	c.120 others(41): Show c.1200+5621_1200+5622insAATATATATATAAAAATATATA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNGTT_chr6_88604897_88968618	88647701	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03017.hp2 NA18944.hp2 others(8): Show HG02809.hp1 HG03017.hp2 NA18944.hp2 NA18956.hp2 NA18983.hp1 NA19010.hp1 NA19011.hp1 NA19063.hp2 NA19072.hp2 NA19082.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0177 a0001c0001t0002g0181 others(8): Show a0001c0001t0002g0156 a0001c0001t0002g0177 a0001c0001t0002g0181 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193	11	220	0.0500	22	c.150 others(43): Show c.1506+30651_1506+30652insTTTTTTTTTTTTTTTTTTTTTT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	14/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88660555	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0220 a0001c0001t0016g0220	1	220	0.0046	22	c.150 others(43): Show c.1506+17797_1506+17798insCTTTTTTTTTTTTTTTTTTTTT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	14/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88901495	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	220	0.0046	22	c.684 others(39): Show c.684+3198_684+3219dupAAAAAAAAAAAAAAAAAAAAAA	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	6/15			chr6	TogoVar
RNH1_chr11_489515_512242	490811	C C	CGTGTGTG others(15): Show CGTGTGTGTACGCGTGTGTACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG03471.hp2 HG02572.hp1 HG03471.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0007 a0001c0005t0002 a0001c0005t0007	a0001c0005t0002g0170 a0001c0005t0007g0169 a0001c0005t0002g0170 a0001c0005t0007g0169	2	387	0.0052	22	c.38 others(33): Show c.3879_*3880insACGTACACACGCGTACACACAC	RNH1	ENSG00000023191.17	transcript	ENST00000354420.7	protein_coding		3703		chr11	TogoVar
RNH1_chr11_489515_512242	490811	C C	CGTGTGTG others(15): Show CGTGTGTGTACGCGTGTGTGCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01106.hp2 HG01515.hp2 others(1): Show HG00733.hp1 HG01106.hp2 HG01515.hp2 HG01993.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0029 a0003c0004t0003g0060 a0003c0004t0003g0029 a0003c0004t0003g0060	4	387	0.0103	22	c.38 others(33): Show c.3879_*3880insACGCACACACGCGTACACACAC	RNH1	ENSG00000023191.17	transcript	ENST00000354420.7	protein_coding		3703		chr11	TogoVar
RNLS_chr10_88279102_88588318	88310824	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG01516.hp2 HG00099.hp2 HG00323.hp2 HG01516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0002g0030 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0002g0030	3	232	0.0129	22	c.876 others(39): Show c.876+3641_876+3642insCTTTTTTTTTTTTTTTTTTTTT	RNLS	ENSG00000184719.13	transcript	ENST00000331772.9	protein_coding	6/6			chr10	TogoVar
RNLS_chr10_88279102_88588318	88371015	G G	GAAATATT others(15): Show GAAATATTTCTTTCATCCTGAGA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	232	0.0043	22	c.527 others(39): Show c.527-8312_527-8291dupTCTCAGGATGAAAGAAATATTT	RNLS	ENSG00000184719.13	transcript	ENST00000331772.9	protein_coding	4/6			chr10	TogoVar
RNLS_chr10_88279102_88588318	88524956	C C	CACATATA others(15): Show CACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0154 a0001c0001t0005g0154	1	232	0.0043	22	c.526 others(41): Show c.526+47946_526+47947insATATATATATATATATATATGT	RNLS	ENSG00000184719.13	transcript	ENST00000331772.9	protein_coding	4/6			chr10	TogoVar
RNLS_chr10_88279102_88588318	88548289	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0050 a0002c0002t0001g0050	1	232	0.0043	22	c.526 others(41): Show c.526+24613_526+24614insCTTTTTTTTTTTTTTTTTTTTT	RNLS	ENSG00000184719.13	transcript	ENST00000331772.9	protein_coding	4/6			chr10	TogoVar
RNMT_chr18_13721673_13769556	13744159	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0241 a0001c0001t0004g0241	1	376	0.0027	22	c.113 others(41): Show c.1139+1512_1139+1533dupTTTTTTTTTTTTTTTTTTTTTT	RNMT	ENSG00000101654.18	transcript	ENST00000383314.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
RNPC3_chr1_103520699_103560239	103551615	T T	TAAATTAA others(15): Show TAAATTAAAAAACCATACTCCCA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02300.hp2 HG01099.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0135 a0001c0001t0001g0123 a0001c0001t0001g0135	2	370	0.0054	22	c.149 others(38): Show c.1495-105_1495-84dupAAATTAAAAAACCATACTCCCA	RNPC3	ENSG00000185946.16	transcript	ENST00000423855.7	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RO60_chr1_193054612_193096219	193095717	T T	TATATATA others(15): Show TATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0068 a0001c0003t0068	a0001c0003t0068g0129 a0001c0003t0068g0129	1	336	0.0030	22	c.10 others(35): Show c.10986_*10987insATATATATATATATATATATAA	RO60	ENSG00000116747.13	transcript	ENST00000400968.7	protein_coding		4499		chr1	TogoVar
ROBO1_chr3_78592239_79772998	78608020	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG06807.hp2 HG02109.hp1 HG06807.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0011 a0003c0006t0006g0040 a0003c0006t0006g0011 a0003c0006t0006g0040	2	44	0.0455	22	c.443 others(40): Show c.4436-1001_4436-980dupGTGTGTGTGTGTGTGTGTGTGT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	28/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	78636935	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0033 a0001c0003t0002g0033	1	44	0.0227	22	c.303 others(39): Show c.3038-849_3038-828dupTATATATATATATATATATATA	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	22/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79395340	A A	AAAAAAGA others(15): Show AAAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	44	0.0227	22	c.88+ others(41): Show c.88+194483_88+194484insCTTTCTTTCTTTCTTTCTTTTT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79496387	C C	CATTTTTT others(15): Show CATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG01243.hp2 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0012 a0001c0005t0005 a0001c0001t0012 a0001c0005t0005	a0001c0001t0012g0027 a0001c0005t0005g0004 a0001c0001t0012g0027 a0001c0005t0005g0004	2	44	0.0455	22	c.88+ others(39): Show c.88+93436_88+93437insAAAAAAAAAAAAAAAAAAAAAT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79550195	G G	GAAAGGAA others(15): Show GAAAGGAAAGAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0018 a0001c0003t0006g0018	1	44	0.0227	22	c.88+ others(39): Show c.88+39628_88+39629insTTTTCTTTTCTTTCTTTCCTTT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79560535	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0041 a0001c0001t0014g0041	1	44	0.0227	22	c.88+ others(39): Show c.88+29267_88+29288dupTATATATATATATATATATATA	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79711928	T T	TGGGGGGG others(15): Show TGGGGGGGGGAGCACTATGAACG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03486.hp2 NA19043.hp1 HG03225.hp2 HG03486.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0010 a0001c0003t0006 a0001c0007t0003 a0001c0001t0010 a0001c0003t0006 a0001c0007t0003	a0001c0001t0010g0034 a0001c0003t0006g0018 a0001c0007t0003g0032 a0001c0001t0010g0034 a0001c0003t0006g0018 a0001c0007t0003g0032	3	44	0.0682	22	c.-51 others(41): Show c.-51+55823_-51+55824insCGTTCATAGTGCTCCCCCCCCC	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	1/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79762609	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0003 a0001c0007t0003g0003	1	44	0.0227	22	c.-51 others(39): Show c.-51+5121_-51+5142dupGTGTGTGTGTGTGTGTGTGTGT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	1/30			chr3	TogoVar
ROBO2_chr3_77035099_77654964	77108207	T T	TATATATA others(15): Show TATATATATGTATACACATATGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0033 a0005c0011t0033	a0005c0011t0033g0018 a0005c0011t0033g0018	1	160	0.0063	22	c.388 others(39): Show c.388+9920_388+9941dupGTATACACATATGCATATATAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77108275	T T	TATATATA others(15): Show TATATATATGTATACACATATGC	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA19077.hp1 HG06807.hp1 NA19077.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0012 a0001c0001 a0010c0012	a0001c0001t0004 a0010c0012t0005 a0001c0001t0004 a0010c0012t0005	a0001c0001t0004g0067 a0010c0012t0005g0106 a0001c0001t0004g0067 a0010c0012t0005g0106	2	160	0.0125	22	c.388 others(39): Show c.388+9943_388+9944insGTATACACATATGCATATATAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77180416	C C	CTCTATAT others(15): Show CTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0096 a0001c0001t0027g0096	1	160	0.0063	22	c.388 others(41): Show c.388+82077_388+82078insCTATATATATATATATATATAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77180416	C C	CTCTCTCT others(15): Show CTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA19006.hp1 HG04228.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0024 a0001c0001t0006g0025 a0001c0001t0004g0024 a0001c0001t0006g0025	2	160	0.0125	22	c.388 others(41): Show c.388+82077_388+82078insCTCTCTATATATATATATATAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77180416	C C	CTCTCTCT others(15): Show CTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18973.hp2 HG03239.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0047 a0001c0001t0002 a0001c0001t0047	a0001c0001t0002g0094 a0001c0001t0047g0026 a0001c0001t0002g0094 a0001c0001t0047g0026	2	160	0.0125	22	c.388 others(41): Show c.388+82077_388+82078insCTCTCTCTATATATATATATAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77180416	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA18945.hp2 NA18957.hp2 HG01361.hp2 NA18945.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0038 a0001c0001t0003g0140 a0001c0001t0004g0150 a0001c0001t0001g0038 a0001c0001t0003g0140 a0001c0001t0004g0150	3	160	0.0188	22	c.388 others(41): Show c.388+82077_388+82078insCTCTCTCTCTATATATATATAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar

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