Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

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
RNF212B_chr14_23232936_23278477	23238737	AAATAATA others(8): Show AAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	227	0.0044	-15	c.-2+ others(28): Show c.-2+713_-2+727delAATAATAATAATAAT		RNF212B	ENSG00000215277.9	transcript	ENST00000430154.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr14	TogoVar
RNF212B_chr14_23232936_23278477	23278202	CATAGCTC others(8): Show CATAGCTCTGATACAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	366	0.0027	-15	c.53 others(26): Show c.5312_*5326delATAGCTCTGATACAG		RNF212B	ENSG00000215277.9	transcript	ENST00000430154.7	protein_coding					4726		chr14	TogoVar
RNF212_chr4_1066478_1118564	1113555	GCAGCTCT others(8): Show GCAGCTCTGCGCCTGC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0356 a0001c0001t0009g0356	1	404	0.0025	-15	c.-10 others(23): Show c.-106_-92delGCAGGCGCAGAGCTG		RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding	1/10				92		chr4	TogoVar
RNF213_chr17_80255852_80403794	80256590	GTGTTGTT others(8): Show GTGTTGTTGTTGTTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	47	0.0213	-15	c.-44 others(26): Show c.-4420_-4406delTGTTGTTGTTGTTGT		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding					4261		chr17	TogoVar
RNF213_chr17_80255852_80403794	80313529	GATGGTGA others(8): Show GATGGTGATGGTGGAC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0073 a0073	a0073c0147 a0073c0147	a0073c0147t0017 a0073c0147t0017	a0073c0147t0017g0175 a0073c0147t0017g0175	1	285	0.0035	-15	c.281 others(32): Show c.2811+363_2811+377delATGGTGATGGTGGAC		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67						chr17	TogoVar
RNF213_chr17_80255852_80403794	80313701	ATGGTGGT others(8): Show ATGGTGGTGATGGAGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02647.hp2 HG01891.hp1 HG02647.hp2	a0047 a0067 a0047 a0067	a0047c0102 a0067c0130 a0047c0102 a0067c0130	a0047c0102t0002 a0067c0130t0002 a0047c0102t0002 a0067c0130t0002	a0047c0102t0002g0020 a0067c0130t0002g0012 a0047c0102t0002g0020 a0067c0130t0002g0012	2	290	0.0069	-15	c.281 others(32): Show c.2811+543_2811+557delATGGAGGTGGTGGTG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314263	TAAAGGTG others(8): Show TAAAGGTGATGGTGGA	T T	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0049 a0049	a0049c0078 a0049c0078	a0049c0078t0008 a0049c0078t0008	a0049c0078t0008g0251 a0049c0078t0008g0251	1	283	0.0035	-15	c.281 others(34): Show c.2811+1097_2811+1111delAAAGGTGATGGTGGA		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67						chr17	TogoVar
RNF213_chr17_80255852_80403794	80314412	GTGGTGGT others(8): Show GTGGTGGTGGAGGTAC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00738.hp2 others(36): Show HG00408.hp1 HG00438.hp2 HG00738.hp2 HG00741.hp1 HG01192.hp2 HG01243.hp2 HG01891.hp1 HG02015.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02486.hp2 HG02647.hp2 HG02976.hp2 HG03225.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03579.hp2 HG03831.hp2 HG03834.hp2 NA18947.hp2 NA18957.hp2 NA18963.hp2 NA18970.hp1 NA18975.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA18998.hp2 NA19007.hp2 NA19030.hp1 NA19043.hp2 NA19060.hp2 NA19070.hp2 NA19086.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0006 a0012 a0016 a0019 a0031 a0034 a0035 a0047 a0050 a0052 a0053 a0067 a0074 a0082 a0095 a0096 a0099 a0102	a0001c0001 a0001c0003 a0001c0006 others(23): Show a0001c0001 a0001c0003 a0001c0006 a0001c0094 a0002c0002 a0002c0058 a0003c0005 a0003c0074 a0006c0047 a0012c0012 a0016c0018 a0019c0126 a0031c0025 a0034c0086 a0035c0062 a0047c0102 a0050c0059 a0052c0041 a0053c0069 a0067c0130 a0074c0128 a0082c0052 a0095c0140 a0096c0097 a0099c0079 a0102c0127	a0001c0001t0001 a0001c0003t0028 a0001c0006t0008 others(27): Show a0001c0001t0001 a0001c0003t0028 a0001c0006t0008 a0001c0094t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 a0002c0002t0039 a0002c0058t0002 a0003c0005t0006 a0003c0074t0010 a0006c0047t0045 a0012c0012t0042 a0016c0018t0021 a0016c0018t0048 a0019c0126t0050 a0031c0025t0011 a0034c0086t0006 a0035c0062t0054 a0047c0102t0002 a0050c0059t0044 a0052c0041t0046 a0053c0069t0018 a0067c0130t0002 a0074c0128t0004 a0082c0052t0057 a0095c0140t0011 a0096c0097t0021 a0099c0079t0001 a0102c0127t0009	a0001c0001t0001g0003 a0001c0001t0001g0115 a0001c0001t0001g0118 others(36): Show a0001c0001t0001g0003 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0137 a0001c0001t0001g0229 a0001c0001t0001g0257 a0001c0001t0001g0264 a0001c0003t0028g0004 a0001c0006t0008g0119 a0001c0094t0001g0162 a0002c0002t0002g0127 a0002c0002t0002g0182 a0002c0002t0002g0184 a0002c0002t0005g0183 a0002c0002t0008g0113 a0002c0002t0039g0254 a0002c0058t0002g0215 a0003c0005t0006g0274 a0003c0074t0010g0163 a0006c0047t0045g0150 a0012c0012t0042g0221 a0016c0018t0021g0025 a0016c0018t0021g0085 a0016c0018t0048g0024 a0019c0126t0050g0180 a0031c0025t0011g0256 a0034c0086t0006g0197 a0035c0062t0054g0125 a0047c0102t0002g0020 a0050c0059t0044g0135 a0052c0041t0046g0233 a0053c0069t0018g0151 a0067c0130t0002g0012 a0074c0128t0004g0168 a0082c0052t0057g0242 a0095c0140t0011g0178 a0096c0097t0021g0027 a0099c0079t0001g0144 a0102c0127t0009g0062	39	283	0.1378	-15	c.281 others(34): Show c.2811+1249_2811+1263delTGGTGGAGGTACTGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314625	GAGGTACT others(8): Show GAGGTACTGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0161 a0001c0006t0005g0161	1	290	0.0034	-15	c.281 others(34): Show c.2811+1459_2811+1473delAGGTACTGGAGGTGA		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67						chr17	TogoVar
RNF213_chr17_80255852_80403794	80314688	GTGGTGGT others(8): Show GTGGTGGTGGAGGTAC	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01109.hp1 HG01167.hp1 others(9): Show HG01074.hp2 HG01109.hp1 HG01167.hp1 HG01257.hp2 HG01496.hp1 HG01517.hp1 HG01952.hp2 HG02004.hp2 HG02976.hp2 HG03688.hp2 HG03834.hp1 NA18944.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0044 a0049 a0074	a0001c0004 a0002c0002 a0002c0061 others(4): Show a0001c0004 a0002c0002 a0002c0061 a0003c0005 a0044c0051 a0049c0078 a0074c0128	a0001c0004t0006 a0002c0002t0002 a0002c0002t0005 others(7): Show a0001c0004t0006 a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0061t0002 a0003c0005t0006 a0044c0051t0011 a0049c0078t0008 a0074c0128t0004	a0001c0004t0006g0266 a0002c0002t0002g0226 a0002c0002t0005g0096 others(9): Show a0001c0004t0006g0266 a0002c0002t0002g0226 a0002c0002t0005g0096 a0002c0002t0005g0209 a0002c0002t0007g0105 a0002c0002t0007g0210 a0002c0002t0008g0154 a0002c0061t0002g0204 a0003c0005t0006g0058 a0044c0051t0011g0110 a0049c0078t0008g0251 a0074c0128t0004g0168	12	286	0.0420	-15	c.281 others(34): Show c.2811+1525_2811+1539delTGGTGGAGGTACTGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314692	TGGTGGAG others(8): Show TGGTGGAGGTACTGGA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01358.hp1 HG03490.hp1 others(10): Show HG00597.hp2 HG01358.hp1 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04199.hp1 NA18946.hp2 NA18966.hp1 NA18969.hp1 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0093	a0001c0001 a0002c0002 a0002c0027 others(3): Show a0001c0001 a0002c0002 a0002c0027 a0002c0035 a0003c0005 a0093c0098	a0001c0001t0001 a0002c0002t0002 a0002c0002t0004 others(6): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0027t0001 a0002c0035t0002 a0003c0005t0010 a0003c0005t0022 a0093c0098t0001	a0001c0001t0001g0131 a0002c0002t0002g0127 a0002c0002t0002g0143 others(10): Show a0001c0001t0001g0131 a0002c0002t0002g0127 a0002c0002t0002g0143 a0002c0002t0002g0182 a0002c0002t0002g0184 a0002c0002t0004g0114 a0002c0002t0005g0183 a0002c0027t0001g0102 a0002c0035t0002g0093 a0002c0035t0002g0094 a0003c0005t0010g0134 a0003c0005t0022g0133 a0093c0098t0001g0285	13	250	0.0520	-15	c.281 others(34): Show c.2811+1530_2811+1544delGAGGTACTGGAGGTG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314697	GAGGTACT others(8): Show GAGGTACTGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0060 a0060	a0060c0111 a0060c0111	a0060c0111t0024 a0060c0111t0024	a0060c0111t0024g0082 a0060c0111t0024g0082	1	265	0.0038	-15	c.281 others(34): Show c.2811+1531_2811+1545delAGGTACTGGAGGTGA		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67						chr17	TogoVar
RNF213_chr17_80255852_80403794	80314745	GTGATGGT others(8): Show GTGATGGTGGAGGTAC	G G	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0032 a0032	a0032c0141 a0032c0141	a0032c0141t0001 a0032c0141t0001	a0032c0141t0001g0179 a0032c0141t0001g0179	1	288	0.0035	-15	c.281 others(34): Show c.2811+1581_2811+1595delATGGTGGAGGTACTG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314785	AGGTAATG others(8): Show AGGTAATGGAGGTGAT	A A	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0032 a0032	a0032c0141 a0032c0141	a0032c0141t0001 a0032c0141t0001	a0032c0141t0001g0179 a0032c0141t0001g0179	1	234	0.0043	-15	c.281 others(34): Show c.2811+1622_2811+1636delAATGGAGGTGATGGT		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314862	GAGGTAAT others(8): Show GAGGTAATGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG01074.hp1 others(7): Show HG00408.hp2 HG00558.hp2 HG01074.hp1 HG02273.hp2 NA18950.hp1 NA18964.hp1 NA18980.hp2 NA18998.hp1 NA19007.hp1 NA19082.hp2	a0001 a0009 a0041 a0001 a0009 a0041	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0009c0015 a0041c0064	a0001c0001t0001 a0001c0003t0001 a0001c0006t0008 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0008 a0009c0015t0027 a0041c0064t0027	a0001c0001t0001g0139 a0001c0003t0001g0053 a0001c0003t0001g0095 others(7): Show a0001c0001t0001g0139 a0001c0003t0001g0053 a0001c0003t0001g0095 a0001c0003t0001g0128 a0001c0003t0001g0140 a0001c0003t0001g0255 a0001c0003t0001g0271 a0001c0006t0008g0142 a0009c0015t0027g0188 a0041c0064t0027g0130	10	289	0.0346	-15	c.281 others(34): Show c.2811+1696_2811+1710delAGGTAATGGAGGTGA		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67						chr17	TogoVar
RNF213_chr17_80255852_80403794	80315096	GAGGTGAT others(8): Show GAGGTGATGGTGGTAA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0094 a0001c0094	a0001c0094t0001 a0001c0094t0001	a0001c0094t0001g0162 a0001c0094t0001g0162	1	284	0.0035	-15	c.281 others(34): Show c.2811+1942_2811+1956delTAAAGGTGATGGTGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315132	GAGGTGAT others(8): Show GAGGTGATGGTGGTAA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0076 a0001c0076	a0001c0076t0010 a0001c0076t0010	a0001c0076t0010g0211 a0001c0076t0010g0211	1	290	0.0034	-15	c.281 others(34): Show c.2811+1978_2811+1992delTAAAGGTGATGGTGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315307	AGGTGATG others(8): Show AGGTGATGGTGGTGGT	A A	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0035 a0002c0035	a0002c0035t0002 a0002c0035t0002	a0002c0035t0002g0094 a0002c0035t0002g0094	1	227	0.0044	-15	c.281 others(34): Show c.2812-1869_2812-1855delTGGTGGTGATGGTGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315498	GTGGTGGT others(8): Show GTGGTGGTGGAGGTAC	G G	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0049 a0049	a0049c0078 a0049c0078	a0049c0078t0008 a0049c0078t0008	a0049c0078t0008g0251 a0049c0078t0008g0251	1	199	0.0050	-15	c.281 others(34): Show c.2812-1686_2812-1672delTGGTGGAGGTACTGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF215_chr22_30373821_30392411	30390090	TGTCCCCC others(8): Show TGTCCCCCACCTAGAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0015 a0001c0002t0002g0015	1	430	0.0023	-15	c.-27 others(26): Show c.-2792_-2778delTTCTAGGTGGGGGAC		RNF215	ENSG00000099999.15	transcript	ENST00000382363.8	protein_coding					2680		chr22	TogoVar
RNF216_chr7_5615047_5786663	5660265	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp2 HG01071.hp2 others(18): Show HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01123.hp1 HG01261.hp1 HG01517.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02630.hp1 HG02818.hp1 HG02922.hp1 HG03130.hp1 HG03453.hp2 NA18522.hp2 NA19009.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0007 a0001c0001 a0001c0002 a0003c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 a0001c0001t0043 a0001c0002t0003 a0001c0002t0037 a0003c0007t0001	a0001c0001t0001g0207 a0001c0001t0001g0217 a0001c0001t0001g0218 others(18): Show a0001c0001t0001g0207 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0004g0224 a0001c0001t0004g0236 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0018g0250 a0001c0001t0018g0252 a0001c0001t0043g0239 a0001c0002t0003g0171 a0001c0002t0003g0187 a0001c0002t0037g0185 a0003c0007t0001g0176	21	24	0.8750	-15	c.206 others(34): Show c.2062-7770_2062-7756delAAAAAAAAAAAAAAA		RNF216	ENSG00000011275.19	transcript	ENST00000389902.8	protein_coding	13/16						chr7	TogoVar
RNF216_chr7_5615047_5786663	5705917	TAAAACAA others(8): Show TAAAACAAAACAAAAC	T T	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG01258.hp2 HG02896.hp1 HG02897.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0019 a0001c0001t0001 a0001c0001t0002 a0001c0002t0019	a0001c0001t0001g0093 a0001c0001t0002g0263 a0001c0002t0019g0058 others(1): Show a0001c0001t0001g0093 a0001c0001t0002g0263 a0001c0002t0019g0058 a0001c0002t0019g0060	4	23	0.1739	-15	c.206 others(34): Show c.2061+5829_2061+5843delGTTTTGTTTTGTTTT		RNF216	ENSG00000011275.19	transcript	ENST00000389902.8	protein_coding	13/16						chr7	TogoVar
RNF216_chr7_5615047_5786663	5769905	CGAGTGCT others(8): Show CGAGTGCTTGTAGCCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(115): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00408.hp2 HG00423.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18906.hp2 NA18951.hp1 NA18952.hp1 NA18957.hp2 NA18971.hp1 NA18972.hp1 NA18985.hp1 NA18990.hp1 NA18993.hp2 NA19007.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19065.hp2 NA19066.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0013 a0001c0014 a0006c0020 a0008c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0021 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0042 a0001c0001t0043 a0001c0002t0002 a0001c0005t0001 a0001c0005t0005 a0001c0013t0013 a0001c0014t0003 a0006c0020t0029 a0008c0021t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(115): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0055 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0249 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0002g0196 a0001c0001t0002g0199 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0004g0203 a0001c0001t0004g0224 a0001c0001t0004g0229 a0001c0001t0004g0236 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0008g0004 a0001c0001t0008g0018 a0001c0001t0008g0200 a0001c0001t0012g0195 a0001c0001t0012g0201 a0001c0001t0012g0251 a0001c0001t0013g0245 a0001c0001t0013g0246 a0001c0001t0016g0253 a0001c0001t0016g0254 a0001c0001t0016g0255 a0001c0001t0018g0202 a0001c0001t0018g0250 a0001c0001t0018g0252 a0001c0001t0021g0231 a0001c0001t0035g0204 a0001c0001t0036g0032 a0001c0001t0038g0205 a0001c0001t0042g0226 a0001c0001t0043g0239 a0001c0002t0002g0269 a0001c0005t0001g0010 a0001c0005t0001g0011 a0001c0005t0005g0009 a0001c0013t0013g0244 a0001c0014t0003g0024 a0006c0020t0029g0243 a0008c0021t0001g0210	118	271	0.4354	-15	c.-69 others(32): Show c.-69-8782_-69-8768delTGGCTACAAGCACTC		RNF216	ENSG00000011275.19	transcript	ENST00000389902.8	protein_coding	1/16						chr7	TogoVar
RNF220_chr1_44400255_44656723	44487672	AAATAATA others(8): Show AAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03225.hp1 HG02735.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0215 a0001c0001t0003g0043 a0001c0001t0001g0215 a0001c0001t0003g0043	2	175	0.0114	-15	c.625 others(34): Show c.625+74974_625+74988delTAATAATAATAATAA		RNF220	ENSG00000187147.19	transcript	ENST00000361799.7	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF24_chr20_3922311_4020558	4008378	ATAATATA others(8): Show ATAATATATATATTAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00738.hp1 HG01175.hp1 others(15): Show HG00423.hp2 HG00738.hp1 HG01175.hp1 HG01261.hp2 HG01515.hp2 HG01517.hp1 HG02165.hp1 HG02300.hp1 HG02738.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG04199.hp2 HG06807.hp2 NA18942.hp1 NA18947.hp2 NA18979.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0047 a0001c0001t0048 others(4): Show a0001c0001t0011 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0096 a0001c0001t0098	a0001c0001t0011g0007 a0001c0001t0011g0344 a0001c0001t0011g0345 others(14): Show a0001c0001t0011g0007 a0001c0001t0011g0344 a0001c0001t0011g0345 a0001c0001t0011g0346 a0001c0001t0011g0347 a0001c0001t0011g0348 a0001c0001t0011g0349 a0001c0001t0047g0020 a0001c0001t0047g0022 a0001c0001t0048g0024 a0001c0001t0048g0025 a0001c0001t0049g0017 a0001c0001t0049g0019 a0001c0001t0050g0016 a0001c0001t0050g0021 a0001c0001t0096g0023 a0001c0001t0098g0026	18	360	0.0500	-15	c.-8+ others(30): Show c.-8+7044_-8+7058delATAATATATATATTA		RNF24	ENSG00000101236.17	transcript	ENST00000358395.11	protein_coding	1/5						chr20	TogoVar
RNF24_chr20_3922311_4020558	4008383	ATATATAT others(8): Show ATATATATTATATATG	A A	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0144 a0001c0001t0027g0144	1	360	0.0028	-15	c.-8+ others(30): Show c.-8+7039_-8+7053delCATATATAATATATA		RNF24	ENSG00000101236.17	transcript	ENST00000358395.11	protein_coding	1/5						chr20	TogoVar
RNF2_chr1_185040558_185107603	185076268	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01884.hp1 HG01891.hp2 others(6): Show HG01496.hp2 HG01884.hp1 HG01891.hp2 HG02109.hp2 HG02615.hp1 HG02818.hp2 HG02886.hp1 HG03834.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0034 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038	a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0129 others(6): Show a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0129 a0001c0001t0001g0209 a0001c0001t0006g0329 a0001c0001t0034g0187 a0001c0001t0036g0257 a0001c0001t0037g0258 a0001c0001t0038g0259	9	37	0.2432	-15	c.-2- others(32): Show c.-2-11258_-2-11244delTTTTTTTTTTTTTTT		RNF2	ENSG00000121481.11	transcript	ENST00000367510.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF31_chr14_24142498_24165655	24159032	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18906.hp2 NA19240.hp1 others(1): Show HG02615.hp1 NA18906.hp2 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0008 a0001c0013 a0001c0015 a0001c0008 a0001c0013 a0001c0015	a0001c0008t0002 a0001c0008t0003 a0001c0013t0002 others(1): Show a0001c0008t0002 a0001c0008t0003 a0001c0013t0002 a0001c0015t0001	a0001c0008t0002g0229 a0001c0008t0003g0063 a0001c0013t0002g0062 others(1): Show a0001c0008t0002g0229 a0001c0008t0003g0063 a0001c0013t0002g0062 a0001c0015t0001g0230	4	77	0.0519	-15	c.290 others(32): Show c.2900-819_2900-805delAAAAAAAAAAAAAAA		RNF31	ENSG00000092098.18	transcript	ENST00000324103.11	protein_coding	18/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
RNF38_chr9_36331400_36405269	36345774	TGGCCTAA others(8): Show TGGCCTAATATGTCTC	T T	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03710.hp2 HG03834.hp2 HG03654.hp1 HG03710.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	3	400	0.0075	-15	c.126 others(32): Show c.1264-836_1264-822delGAGACATATTAGGCC		RNF38	ENSG00000137075.18	transcript	ENST00000259605.11	protein_coding	9/11						chr9	TogoVar
RNF38_chr9_36331400_36405269	36347120	CGGGGGGG others(8): Show CGGGGGGGGGGGGGGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00642.hp2 others(54): Show HG00099.hp2 HG00408.hp2 HG00642.hp2 HG00733.hp2 HG00741.hp1 HG01106.hp1 HG01106.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG02055.hp2 HG02056.hp2 HG02148.hp1 HG02300.hp1 HG02630.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02922.hp2 HG03098.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03688.hp2 HG03704.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18943.hp1 NA18946.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA18995.hp1 NA18999.hp1 NA19004.hp1 NA19006.hp1 NA19007.hp2 NA19012.hp2 NA19030.hp2 NA19055.hp1 NA19081.hp1 NA19081.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0021	a0001c0001t0001g0008 a0001c0001t0001g0061 a0001c0001t0001g0062 others(48): Show a0001c0001t0001g0008 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0086 a0001c0001t0001g0113 a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0231 a0001c0001t0001g0310 a0001c0001t0001g0322 a0001c0001t0001g0332 a0001c0001t0001g0337 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0346 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0367 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0114 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0003g0157 a0001c0001t0003g0162 a0001c0001t0003g0189 a0001c0001t0009g0171 a0001c0001t0021g0047	57	64	0.8906	-15	c.126 others(34): Show c.1264-2182_1264-2168delCCCCCCCCCCCCCCC		RNF38	ENSG00000137075.18	transcript	ENST00000259605.11	protein_coding	9/11						chr9	TogoVar
RNF43_chr17_58348676_58422534	58355980	TGAAAGGC others(8): Show TGAAAGGCAAGAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp1 HG03453.hp2 others(2): Show HG02451.hp2 HG02630.hp1 HG03453.hp2 HG03486.hp2 HG06807.hp2	a0001 a0020 a0021 a0001 a0020 a0021	a0001c0001 a0020c0022 a0021c0021 a0001c0001 a0020c0022 a0021c0021	a0001c0001t0005 a0020c0022t0005 a0021c0021t0005 a0001c0001t0005 a0020c0022t0005 a0021c0021t0005	a0001c0001t0005g0141 a0001c0001t0005g0142 a0001c0001t0005g0152 others(2): Show a0001c0001t0005g0141 a0001c0001t0005g0142 a0001c0001t0005g0152 a0020c0022t0005g0106 a0021c0021t0005g0107	5	350	0.0143	-15	c.230 others(33): Show c.2309-1009_2309-995delTTTTTCTTGCCTTTC		RNF43	ENSG00000108375.13	transcript	ENST00000407977.7	protein_coding	9/9						chr17	TogoVar
RNF4_chr4_2464106_2520857	2518307	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01257.hp2 HG03654.hp2 others(4): Show HG00738.hp1 HG01257.hp2 HG03654.hp2 HG03710.hp1 NA18950.hp1 NA19074.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0225 a0001c0001t0003g0229 a0001c0001t0003g0235 others(4): Show a0001c0001t0003g0225 a0001c0001t0003g0229 a0001c0001t0003g0235 a0001c0001t0003g0237 a0001c0001t0003g0240 a0001c0001t0003g0260 a0001c0001t0003g0266	7	21	0.3333	-15	c.44 others(26): Show c.4489_*4503delTTTTTTTTTTTTTTT		RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding					2451		chr4	TogoVar
RNF4_chr4_2464106_2520857	2520781	AAAAAAAA others(8): Show AAAAAAAAATAATAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0370 a0001c0003t0014g0370	1	314	0.0032	-15	c.69 others(26): Show c.6963_*6977delAAAAAAAATAATAAT		RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding					4925		chr4	TogoVar
RNFT2_chr12_116733315_116858631	116771460	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01261.hp2 HG02055.hp2 others(2): Show HG00140.hp1 HG01261.hp2 HG02055.hp2 HG02735.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0057 a0001c0001t0058 a0001c0001t0019 a0001c0001t0057 a0001c0001t0058	a0001c0001t0019g0124 a0001c0001t0019g0153 a0001c0001t0019g0187 others(2): Show a0001c0001t0019g0124 a0001c0001t0019g0153 a0001c0001t0019g0187 a0001c0001t0057g0220 a0001c0001t0058g0188	5	64	0.0781	-15	c.728 others(32): Show c.728+4567_728+4581delAAAAAAAAAAAAAAA		RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr12	TogoVar
RNFT2_chr12_116733315_116858631	116800812	TTAAAATA others(8): Show TTAAAATAAAATAAAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02622.hp1 HG02647.hp2 others(1): Show HG01243.hp2 HG02622.hp1 HG02647.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0002t0050 a0001c0001t0004 a0001c0002t0004 a0001c0002t0050	a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0002t0004g0005 others(1): Show a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0002t0004g0005 a0001c0002t0050g0004	4	94	0.0426	-15	c.882 others(34): Show c.882+21500_882+21514delTAAAATAAAATAAAA		RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr12	TogoVar
RNGTT_chr6_88604897_88968618	88630624	GAGCTCTG others(8): Show GAGCTCTGAGTTAAAC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	218	0.0046	-15	c.150 others(36): Show c.1507-16244_1507-16230delGTTTAACTCAGAGCT		RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	14/15						chr6	TogoVar
RNH1_chr11_489515_512242	494148	CGCTGGGC others(8): Show CGCTGGGCTGGGCTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG01358.hp2 others(7): Show HG00099.hp1 HG00735.hp2 HG01358.hp2 HG02735.hp1 HG03669.hp1 HG03688.hp1 HG03927.hp1 HG04228.hp1 NA18972.hp2 NA18990.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0038 a0001c0001t0001g0070 a0001c0001t0001g0088 a0001c0001t0001g0103 a0002c0003t0001g0028	10	235	0.0426	-15	c.52 others(24): Show c.528_*542delCCAGCCCAGCCCAGC		RNH1	ENSG00000023191.17	transcript	ENST00000354420.7	protein_coding					366		chr11	TogoVar
RNH1_chr11_489515_512242	502129	ACTGGATG others(8): Show ACTGGATGTCCAGGCT	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp2 HG00639.hp2 HG00733.hp1 others(16): Show HG00099.hp2 HG00639.hp2 HG00733.hp1 HG00741.hp2 HG01106.hp2 HG01175.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01496.hp1 HG01515.hp2 HG01928.hp2 HG01934.hp1 HG01975.hp2 HG01993.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02602.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0031 a0003c0004t0003g0032 a0003c0004t0003g0033 others(10): Show a0003c0004t0003g0031 a0003c0004t0003g0032 a0003c0004t0003g0033 a0003c0004t0003g0059 a0003c0004t0003g0158 a0003c0004t0003g0159 a0003c0004t0003g0160 a0003c0004t0003g0161 a0003c0004t0003g0162 a0003c0004t0003g0163 a0003c0004t0003g0165 a0003c0004t0003g0166 a0003c0004t0003g0167	19	386	0.0492	-15	c.19_ others(20): Show c.19_33delAGCCTGGACATCCAG	p.Ser others(10): Show p.Ser7_Gln11del	RNH1	ENSG00000023191.17	transcript	ENST00000354420.7	protein_coding	3/11	423/1952	19/1386	7/461			chr11	TogoVar
RNLS_chr10_88279102_88588318	88308238	TGCCAAAA others(8): Show TGCCAAAAGCAATTGC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0085 a0002c0002t0002g0085	1	232	0.0043	-15	c.876 others(32): Show c.876+6213_876+6227delGCAATTGCTTTTGGC		RNLS	ENSG00000184719.13	transcript	ENST00000331772.9	protein_coding	6/6						chr10	TogoVar
RNLS_chr10_88279102_88588318	88310813	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02280.hp2 HG01884.hp1 HG02145.hp1 HG02280.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0006 a0001c0001t0001 a0003c0003t0006	a0001c0001t0001g0204 a0001c0001t0001g0219 a0003c0003t0006g0232 a0001c0001t0001g0204 a0001c0001t0001g0219 a0003c0003t0006g0232	3	232	0.0129	-15	c.876 others(32): Show c.876+3638_876+3652delCTTTTTTTTTTTTTT		RNLS	ENSG00000184719.13	transcript	ENST00000331772.9	protein_coding	6/6						chr10	TogoVar
RNMT_chr18_13721673_13769556	13744159	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	25	0.0400	-15	c.113 others(34): Show c.1139+1519_1139+1533delTTTTTTTTTTTTTTT		RNMT	ENSG00000101654.18	transcript	ENST00000383314.7	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
RNPEP_chr1_201977648_202011143	201984821	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA19043.hp2 NA19054.hp2 HG02080.hp1 NA19043.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0001t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0150	3	86	0.0349	-15	c.447 others(32): Show c.447+1730_447+1744delTTTTTTTTTTTTTTT		RNPEP	ENSG00000176393.11	transcript	ENST00000295640.9	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
ROBO1_chr3_78592239_79772998	79381373	AAAAAGAA others(8): Show AAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02109.hp1 others(14): Show HG01109.hp2 HG01884.hp1 HG02109.hp1 HG02451.hp2 HG02717.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG06807.hp1 HG06807.hp2 NA19030.hp1 NA19043.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0003c0006 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0016 a0001c0003t0006 a0001c0005t0002 a0003c0006t0006 a0004c0010t0002	a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0002g0007 others(14): Show a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0002g0007 a0001c0001t0003g0036 a0001c0001t0005g0035 a0001c0001t0009g0006 a0001c0001t0010g0034 a0001c0001t0012g0027 a0001c0002t0001g0019 a0001c0002t0003g0016 a0001c0002t0004g0021 a0001c0002t0016g0044 a0001c0003t0006g0020 a0001c0005t0002g0029 a0003c0006t0006g0011 a0003c0006t0006g0040 a0004c0010t0002g0031	17	41	0.4146	-15	c.88+ others(34): Show c.88+208436_88+208450delCTTTTCTTTTCTTTT		ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30						chr3	TogoVar
ROBO2_chr3_77035099_77654964	77191569	TTGGAGTT others(8): Show TTGGAGTTTTTTAAAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG01123.hp2 others(14): Show HG00140.hp1 HG00280.hp2 HG01123.hp2 HG01255.hp2 HG01361.hp1 HG02559.hp1 HG02717.hp1 HG02895.hp2 HG03492.hp2 NA18945.hp2 NA18957.hp2 NA18960.hp2 NA18968.hp2 NA18973.hp2 NA19006.hp1 NA19060.hp1 NA21309.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0004 a0008c0012 a0001c0001 a0003c0004 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0032 a0001c0001t0047 a0003c0004t0002 a0008c0012t0004	a0001c0001t0001g0038 a0001c0001t0001g0066 a0001c0001t0002g0049 others(14): Show a0001c0001t0001g0038 a0001c0001t0001g0066 a0001c0001t0002g0049 a0001c0001t0002g0076 a0001c0001t0003g0006 a0001c0001t0003g0142 a0001c0001t0004g0010 a0001c0001t0004g0150 a0001c0001t0005g0050 a0001c0001t0006g0019 a0001c0001t0006g0024 a0001c0001t0007g0157 a0001c0001t0007g0158 a0001c0001t0032g0102 a0001c0001t0047g0025 a0003c0004t0002g0092 a0008c0012t0004g0059	17	160	0.1063	-15	c.388 others(34): Show c.388+93230_388+93244delTGGAGTTTTTTAAAC		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27						chr3	TogoVar
ROBO2_chr3_77035099_77654964	77374169	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	16	0.0625	-15	c.389 others(36): Show c.389-103225_389-103211delAAAAAAAAAAAAAAA		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77410498	CTCCTCTT others(8): Show CTCCTCTTCCTCCTCT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	160	0.0063	-15	c.389 others(34): Show c.389-66910_389-66896delTTCCTCCTCTTCCTC		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77410567	TTCCTCCT others(8): Show TTCCTCCTCCTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG04228.hp2 HG03710.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0055 a0001c0001t0023g0033 a0001c0001t0001g0055 a0001c0001t0023g0033	2	107	0.0187	-15	c.389 others(34): Show c.389-66812_389-66798delCCTCCTCTTCCTCCT		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77473440	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0042 a0001c0001t0029g0042	1	4	0.2500	-15	c.389 others(32): Show c.389-3951_389-3937delTTTTTTTTTTTTTTT		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO3_chr11_124860432_124886471	124881725	ACACACAC others(8): Show ACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG03041.hp2 NA18522.hp1 HG02886.hp2 HG03041.hp2 NA18522.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0008 a0002c0003t0001g0008	3	400	0.0075	-15	c.47 others(24): Show c.476_*490delCACACACACACACAC		ROBO3	ENSG00000154134.15	transcript	ENST00000397801.6	protein_coding					255		chr11	TogoVar
ROBO3_chr11_124860432_124886471	124881727	ACACACAC others(8): Show ACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01884.hp2 HG02965.hp1 others(4): Show HG00642.hp2 HG01884.hp2 HG02965.hp1 HG03139.hp2 HG03195.hp2 HG03516.hp1 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0008 a0002c0003t0001g0021 a0002c0003t0001g0052 a0002c0003t0001g0008 a0002c0003t0001g0021 a0002c0003t0001g0052	7	398	0.0176	-15	c.47 others(24): Show c.478_*492delCACACACACACACAC		ROBO3	ENSG00000154134.15	transcript	ENST00000397801.6	protein_coding					257		chr11	TogoVar

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