Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RIMBP2_chr12_130391133_130721299	130574969	G G	GCCACCCC others(43): Show GCCACCCCCACCCCCAGACGCCCTGTGCCAAGTCCTCCAGAATCACACCC C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02717.hp1 HG02970.hp1 HG02451.hp1 HG02717.hp1 HG02970.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0049 a0002c0016 a0001c0001 a0001c0049 a0002c0016	a0001c0001t0001 a0001c0049t0001 a0002c0016t0001 a0001c0001t0001 a0001c0049t0001 a0002c0016t0001	a0001c0001t0001g0069 a0001c0049t0001g0169 a0002c0016t0001g0135 a0001c0001t0001g0069 a0001c0049t0001g0169 a0002c0016t0001g0135	3	180	0.0167	50	c.-21 others(71): Show c.-217+53303_-217+53352dupGGGGTGTGATTCTGGAGGACTTGG CACAGGGCGTCTGGGGGTGGGGGTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	2/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130664443	A A	ACGCACGC others(43): Show ACGCACGCACGCACACGCACACACACGCACGCACGCACACACACGTGCAT G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02258.hp2 NA19240.hp1 HG01109.hp1 HG02258.hp2 NA19240.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0005 a0002c0016 a0004c0039 a0001c0005 a0002c0016 a0004c0039	a0001c0005t0001 a0002c0016t0001 a0004c0039t0001 a0001c0005t0001 a0002c0016t0001 a0004c0039t0001	a0001c0005t0001g0165 a0002c0016t0001g0124 a0004c0039t0001g0132 a0001c0005t0001g0165 a0002c0016t0001g0124 a0004c0039t0001g0132	3	180	0.0167	50	c.-35 others(71): Show c.-351-35988_-351-35987insCATGCACGTGTGTGTGCGTGCGTG CGTGTGTGTGCGTGTGCGTGCGTGCG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMS2_chr8_103495610_104259430	103909990	C C	CTATATAT others(43): Show CTATATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	1	172	0.0058	50	c.175 others(67): Show c.1757-313_1757-312insTATATATATATATATATATATATATATA TATATATATATATATATATATA	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIN3_chr14_92508781_92693994	92640659	T T	TTCGTCAG others(43): Show TTCGTCAGGGGCTGCCTGACTGCGTTTGCTGGGAGATGCCTGACTGTGTG C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp1 HG02809.hp2 others(2): Show HG02615.hp2 HG02809.hp1 HG02809.hp2 HG02976.hp1 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0017 a0003c0025 a0001c0017 a0003c0025	a0001c0017t0001 a0001c0017t0005 a0003c0025t0001 others(1): Show a0001c0017t0001 a0001c0017t0005 a0003c0025t0001 a0003c0025t0005	a0001c0017t0001g0205 a0001c0017t0001g0206 a0001c0017t0005g0208 others(2): Show a0001c0017t0001g0205 a0001c0017t0001g0206 a0001c0017t0005g0208 a0003c0025t0001g0003 a0003c0025t0005g0186	5	334	0.0150	50	c.441 others(65): Show c.441-577_441-576insGTCAGGGGCTGCCTGACTGCGTTTGCTGGG AGATGCCTGACTGTGTGCTC	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92640665	G G	GGGGGCTG others(43): Show GGGGGCTGCCTGACTGCGTTTGCTGGGAGATGCCTGACTGTGTGCTCGTC A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02572.hp2 others(6): Show HG02055.hp1 HG02145.hp2 HG02572.hp2 HG02723.hp1 HG02970.hp1 HG03098.hp2 HG03486.hp1 HG06807.hp1 NA19043.hp1	a0011 a0011	a0011c0011 a0011c0012 a0011c0011 a0011c0012	a0011c0011t0001 a0011c0012t0001 a0011c0011t0001 a0011c0012t0001	a0011c0011t0001g0022 a0011c0011t0001g0204 a0011c0011t0001g0250 others(6): Show a0011c0011t0001g0022 a0011c0011t0001g0204 a0011c0011t0001g0250 a0011c0011t0001g0251 a0011c0011t0001g0273 a0011c0012t0001g0007 a0011c0012t0001g0120 a0011c0012t0001g0276 a0011c0012t0001g0278	9	334	0.0270	50	c.441 others(65): Show c.441-558_441-557insCGTTTGCTGGGAGATGCCTGACTGTGTGCT CGTCAGGGGCTGCCTGACTG	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92660313	T T	TCACATGC others(43): Show TCACATGCTGGGTGGGTGGTTGGCTGTTGGCTGCTCTGGGACGGCCTTGC C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02683.hp1 HG03704.hp2 others(2): Show HG00597.hp2 HG02683.hp1 HG03704.hp2 HG03710.hp2 HG04115.hp1	a0012 a0021 a0027 a0012 a0021 a0027	a0012c0016 a0021c0043 a0027c0032 a0012c0016 a0021c0043 a0027c0032	a0012c0016t0001 a0012c0016t0002 a0021c0043t0002 others(1): Show a0012c0016t0001 a0012c0016t0002 a0021c0043t0002 a0027c0032t0011	a0012c0016t0001g0165 a0012c0016t0002g0167 a0012c0016t0002g0297 others(2): Show a0012c0016t0001g0165 a0012c0016t0002g0167 a0012c0016t0002g0297 a0021c0043t0002g0018 a0027c0032t0011g0010	5	334	0.0150	50	c.233 others(67): Show c.2335+859_2335+908dupGTGGTTGGCTGTTGGCTGCTCTGGGACG GCCTTGCCCACATGCTGGGTGG	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIOK2_chr5_97155867_97188247	97179966	T T	TATATATA others(43): Show TATATATATATAATATATATATATAAAATATATATATATTATATATATAT A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0105 a0001c0004t0003g0105	1	410	0.0024	50	c.67- others(63): Show c.67-823_67-774dupTATATATATATAATATATATATATTTTATATA TATATATTATATATATAT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180120	G G	GTATATGT others(43): Show GTATATGTATATATATATATACATGTATATATATATATATGTATATATAT A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0031 a0003c0003t0031	a0003c0003t0031g0103 a0003c0003t0031g0103	1	410	0.0024	50	c.67- others(63): Show c.67-928_67-927insTATATATATACATATATATATATATACATGTA TATATATATATACATATA	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIPK4_chr21_41734373_41772052	41736022	A A	ACTTCTTC others(43): Show ACTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTTCTTCTTCTTCTTCTTCT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG06807.hp2 HG02647.hp1 HG06807.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0008c0037 a0001c0002 a0008c0037	a0001c0002t0004 a0008c0037t0004 a0001c0002t0004 a0008c0037t0004	a0001c0002t0004g0017 a0008c0037t0004g0099 a0001c0002t0004g0017 a0008c0037t0004g0099	2	448	0.0045	50	c.48 others(61): Show c.4815_*4816insAAGAAGAAGAAGAAGAAGAAAAGAAGAAGAAGAA GAAGAAGAAGAAGAAG	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3350		chr21	TogoVar
RNF141_chr11_10506673_10546187	10539687	C C	CATATATA others(43): Show CATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0044 a0001c0001t0006g0044	1	374	0.0027	50	c.-48 others(67): Show c.-48+1434_-48+1435insATATATATATATATATATATATATATAT ATATATATATATATATATATAT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF150_chr4_140854807_141138469	140999985	A A	AGGAAGAA others(43): Show AGGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGGAGGAGGAGGA G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0082 a0001c0001t0050g0082	1	184	0.0054	50	c.485 others(69): Show c.485-32113_485-32112insCTCCTCCTCCTCCTCCTCCTCCTTCT TCTTCTTCTTCTTCTTCTTCTTCC	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6			chr4	TogoVar
RNF152_chr18_61803067_61898007	61844077	G G	GGAAAGAA others(43): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAA A	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0211 a0001c0002t0005g0211	1	310	0.0032	50	c.-13 others(71): Show c.-135-27480_-135-27479insTTTCTTTCTTTCTTTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTC	RNF152	ENSG00000176641.11	transcript	ENST00000312828.4	protein_coding	1/1			chr18	TogoVar
RNF152_chr18_61803067_61898007	61844077	G G	GGAAAGAA others(43): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAA A	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0054 a0001c0002t0054	a0001c0002t0054g0214 a0001c0002t0054g0214	1	310	0.0032	50	c.-13 others(71): Show c.-135-27480_-135-27479insTTTCTTTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTC	RNF152	ENSG00000176641.11	transcript	ENST00000312828.4	protein_coding	1/1			chr18	TogoVar
RNF17_chr13_24759169_24884921	24881838	A A	ATATATAG others(43): Show ATATATAGATACATCTATATAGATACATCTATATAGATATATAGATACAT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 NA18985.hp1 HG02273.hp1 NA18985.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0004 a0002c0003 a0004c0004	a0002c0003t0002 a0004c0004t0002 a0002c0003t0002 a0004c0004t0002	a0002c0003t0002g0365 a0004c0004t0002g0134 a0002c0003t0002g0365 a0004c0004t0002g0134	2	426	0.0047	50	c.21 others(61): Show c.2112_*2113insTATATAGATACATCTATATAGATACATCTATATA GATATATAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1918		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882257	T T	TAGATAGA others(43): Show TAGATAGATATATAGATACATCTATATAGATATATAGATACATCTATATA G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG01081.hp1 others(5): Show HG00140.hp2 HG00280.hp2 HG01081.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp2 NA20805.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0328 a0002c0003t0001g0341 a0002c0003t0001g0350 others(5): Show a0002c0003t0001g0328 a0002c0003t0001g0341 a0002c0003t0001g0350 a0002c0003t0001g0351 a0002c0003t0001g0353 a0002c0003t0001g0354 a0002c0003t0001g0395 a0002c0003t0001g0396	8	426	0.0188	50	c.25 others(61): Show c.2531_*2532insAGATAGATATATAGATACATCTATATAGATATAT AGATACATCTATATAG	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2337		chr13	TogoVar
RNF212B_chr14_23232936_23278477	23273908	T T	TTTTACAG others(43): Show TTTTACAGTTTTTGTTCTTTTAATTTACCTCAATAAGTCCTGCCCCTCCA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	368	0.0027	50	c.10 others(61): Show c.1017_*1018insTTTACAGTTTTTGTTCTTTTAATTTACCTCAATA AGTCCTGCCCCTCCAA	RNF212B	ENSG00000215277.9	transcript	ENST00000430154.7	protein_coding		432		chr14	TogoVar
RNF212B_chr14_23232936_23278477	23275531	G G	GGTTCATC others(43): Show GGTTCATCTTTCAGTAACAGACCTCCCCTCCCCCAGCTCCCCACTCAGTC T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	368	0.0027	50	c.26 others(61): Show c.2640_*2641insGTTCATCTTTCAGTAACAGACCTCCCCTCCCCCA GCTCCCCACTCAGTCT	RNF212B	ENSG00000215277.9	transcript	ENST00000430154.7	protein_coding		2055		chr14	TogoVar
RNFT2_chr12_116733315_116858631	116797872	C C	CTTTTGGG others(43): Show CTTTTGGGTCACTGGGTGATGGTCATGGAAAGCGGTGGTAACTCCTGGGT G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0023 a0001c0011t0023	a0001c0011t0023g0007 a0001c0011t0023g0007	1	268	0.0037	50	c.882 others(69): Show c.882+18573_882+18574insGTTTTGGGTCACTGGGTGATGGTCAT GGAAAGCGGTGGTAACTCCTGGGT	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNGTT_chr6_88604897_88968618	88697956	T T	TATATATA others(43): Show TATATATATGAAATACATATATATGATATATATATATGAAATACATATAT G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	220	0.0046	50	c.144 others(71): Show c.1440-19538_1440-19537insCATATATGTATTTCATATATATAT ATCATATATATGTATTTCATATATAT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	13/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88697999	C C	CATATATG others(43): Show CATATATGATATATATATGAAATACATATATGATATATATATGAAATACA T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp2 HG03017.hp1 others(1): Show HG00140.hp2 HG00609.hp2 HG03017.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0060 a0001c0001t0001g0101 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0060 a0001c0001t0001g0101 a0001c0001t0001g0102	4	220	0.0182	50	c.144 others(71): Show c.1440-19581_1440-19580insATGTATTTCATATATATATCATAT ATGTATTTCATATATATATCATATAT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	13/15			chr6	TogoVar
ROBO1_chr3_78592239_79772998	79550195	G G	GAAAGAAA others(43): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAAGAAA A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	44	0.0227	50	c.88+ others(67): Show c.88+39628_88+39629insTTTTCTTTTCTTTCTTTCCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO2_chr3_77035099_77654964	77108251	C C	CATATATA others(43): Show CATATATATGTATACACATATGCATATATATATGTATACACATATGCATA T	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	160	0.0063	50	c.388 others(67): Show c.388+9943_388+9944insGTATACACATATGCATATATATATATGT ATACACATATGCATATATATAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROCK1_chr18_20941906_21116813	20958922	T T	TATATATA others(43): Show TATATATATATTATATAAAAAATAATATATATATTTTATATAATATATAT A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03098.hp1 HG02647.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0186 a0001c0001t0016g0187 a0001c0001t0016g0186 a0001c0001t0016g0187	2	212	0.0094	50	c.351 others(67): Show c.3512+868_3512+917dupTATATATATTATATAAAATATATATATT ATTTTTTATATAATATATATAT	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32			chr18	TogoVar
ROCK1_chr18_20941906_21116813	20958934	A A	ATATAAAA others(43): Show ATATAAAAAATAATATATATATTTTATATAATATATATAATATATATATT T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0125 a0001c0001t0022g0125	1	212	0.0047	50	c.351 others(67): Show c.3512+856_3512+905dupAAATATATATATTATATATATTATATAA AATATATATATTATTTTTTATA	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32			chr18	TogoVar
ROCK1_chr18_20941906_21116813	20958981	A A	ATTTTATA others(43): Show ATTTTATAAAAAATAATATATATATTTTATATAATATATATAATATATAT T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03139.hp2 HG03195.hp2 others(2): Show HG01243.hp2 HG03139.hp2 HG03195.hp2 HG03579.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 others(2): Show a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192	5	212	0.0236	50	c.351 others(67): Show c.3512+858_3512+859insAATATATATTATATATATTATATAAAAT ATATATATTATTTTTTATAAAA	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32			chr18	TogoVar
ROR1_chr1_63769017_64186498	64014713	C C	CTATATAT others(43): Show CTATATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0092 a0001c0005t0002g0092	1	96	0.0104	50	c.163 others(67): Show c.163+5351_163+5352insTATATATATATATATATATATATATATA TATATATATATATATATATATA	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
RORA_chr15_60483284_61234302	60515957	T T	TTATATAT others(43): Show TTATATATATTTATATATTTATATATATTTATATATATTTATATATTTAT A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0055 a0001c0001t0034g0055	1	118	0.0085	50	c.283 others(67): Show c.283-1201_283-1200insTATAAATATATAAATATATATAAATATA TATAAATATATAAATATATATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	3/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60516149	A A	AAATATAT others(43): Show AAATATATATATTTATATATATATTTATATATATATTTAAATATATATAT T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp1 HG02257.hp1 HG02559.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0005 a0001c0004t0008g0095 a0001c0004t0008g0005 a0001c0004t0008g0095	2	118	0.0170	50	c.283 others(67): Show c.283-1393_283-1392insAATATATATATTTAAATATATATATAAA TATATATATAAATATATATATT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	3/10			chr15	TogoVar
RORA_chr15_60483284_61234302	61053848	G G	GATATATA others(43): Show GATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0019	a0001c0004t0019g0006 a0001c0004t0019g0006	1	118	0.0085	50	c.166 others(71): Show c.166+175204_166+175205insATATATATATATATATATATATAT ATATATATATATATATATATATATAT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPA2_chr1_27886524_27919575	27916908	C C	CCCTCCCT others(43): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCTTCCTCCTTCCT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	364	0.0028	50	c.-24 others(61): Show c.-2466_-2465insAAGGAAGGAGGAAGGAGGAAGGAAGGGAGGGAGG GAGGGAGGGAGGGAGG	RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding		2334		chr1	TogoVar
RPA3_chr7_7631518_7723607	7678697	T T	TATATATT others(43): Show TATATATTTATATATTTAGTTTATAAATATATTTATATATTTAGTTTATA A	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19240.hp1 HG02055.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0234 a0001c0001t0002g0235	2	308	0.0065	50	c.-75 others(69): Show c.-758+7132_-758+7133insTTATAAACTAAATATATAAATATATT TATAAACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7678699	T T	TATATTTA others(43): Show TATATTTATATATTTAGTTTATAAATATATATTTATGTATTTAGTTTATA A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	308	0.0033	50	c.-75 others(69): Show c.-758+7130_-758+7131insTTATAAACTAAATACATAAATATATA TTTATAAACTAAATATATAAATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	235251	A A	AGGGTTCA others(43): Show AGGGTTCAAAGCTGGGGTCGGGGGAGGCTCTGCACTAACAAGACGGATCC C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0070 a0001c0001t0017g0070	1	133	0.0075	50	c.613 others(69): Show c.613+11859_613+11860insGGGATCCGTCTTGTTAGTGCAGAGCC TCCCCCGACCCCAGCTTTGAACCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	235445	G G	GGGTCCCG others(43): Show GGGTCCCGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCACACTAACAAGAC A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0070 a0001c0001t0017g0070	1	133	0.0075	50	c.613 others(69): Show c.613+11665_613+11666insTGTCTTGTTAGTGTGGAGCCTCCGCC GACCCCAGCTTTGAACCCGGGACC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	235473	C C	CGAGGCTC others(43): Show CGAGGCTCTACACTAACAAGACGGGTCCCGGGTTCAAAGCTGGGGTCGGC G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02723.hp1 HG01243.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0027 a0001c0001t0022 a0001c0001t0027	a0001c0001t0022g0071 a0001c0001t0027g0118 a0001c0001t0022g0071 a0001c0001t0027g0118	2	133	0.0150	50	c.613 others(69): Show c.613+11637_613+11638insCGCCGACCCCAGCTTTGAACCCGGGA CCCGTCTTGTTAGTGTAGAGCCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	235744	C C	CGGATCCC others(43): Show CGGATCCCGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCACACTAACAAGA T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01496.hp1 HG01361.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0001 a0001c0002t0001g0002	2	133	0.0150	50	c.613 others(69): Show c.613+11366_613+11367insATCTTGTTAGTGTGGAGCCTCCGCCG ACCCCAGCTTTGAACCCGGGATCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	287797	T T	TCTCTCCA others(43): Show TCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGCAC C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	133	0.0075	50	c.352 others(67): Show c.352-5944_352-5943insGGTGCGAGGTCTGACGGTGGAGAGAGGG TGCGAGGTCTGACGGTGGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288431	T T	TCTCTCCA others(43): Show TCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCGCAC C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	133	0.0075	50	c.352 others(67): Show c.352-6578_352-6577insGGTGCGAGGTCTGACGGTGGAGAGAGGG AGTGAGGTCTGACGGTGGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288431	T T	TCTCTCCA others(43): Show TCTCTCCACCGTCAGACCTCGCACGCTCTCTCCACCGTCAGACCTCGCAC C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	133	0.0075	50	c.352 others(67): Show c.352-6578_352-6577insGGTGCGAGGTCTGACGGTGGAGAGAGCG TGCGAGGTCTGACGGTGGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288511	T T	TCTCTCCA others(43): Show TCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCACTC C	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18947.hp1 NA19005.hp1 HG02976.hp1 NA18947.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0024 a0001c0001t0025 a0001c0001t0005 a0001c0001t0024 a0001c0001t0025	a0001c0001t0005g0017 a0001c0001t0024g0083 a0001c0001t0025g0076 a0001c0001t0005g0017 a0001c0001t0024g0083 a0001c0001t0025g0076	3	133	0.0226	50	c.352 others(67): Show c.352-6658_352-6657insGGAGTGAGGTCTGACGGTGGAGAGAGGG TGCGAGGTCTGACGGTGGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288649	T T	TCTCTCCA others(43): Show TCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCACTC C	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0083 a0001c0001t0024g0083	1	133	0.0075	50	c.352 others(67): Show c.352-6796_352-6795insGGAGTGAGGTCTGACGGTGGAGAGAGGG AGTGAGGTCTGACGGTGGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288677	T T	TCTCTCCA others(43): Show TCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCACTC C	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18947.hp1 NA19056.hp2 HG02976.hp1 NA18947.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0025 a0001c0001t0004 a0001c0001t0005 a0001c0001t0025	a0001c0001t0004g0021 a0001c0001t0005g0017 a0001c0001t0025g0076 a0001c0001t0004g0021 a0001c0001t0005g0017 a0001c0001t0025g0076	3	133	0.0226	50	c.352 others(67): Show c.352-6824_352-6823insGGAGTGAGGTCTGACGGTGGAGAGAGGG AGTGAGGTCTGACGGTGGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	319946	G G	GGAGGGAG others(43): Show GGAGGGAGGGGGAGGGAGATTGAGGGGAGGGAGGGGGAGGGAGACTGAGG A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00099.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0114 a0001c0001t0016g0093 a0001c0001t0001g0114 a0001c0001t0016g0093	2	133	0.0150	50	c.222 others(65): Show c.222-398_222-397insTCCTCAGTCTCCCTCCCCCTCCCTCCCCTC AATCTCCCTCCCCCTCCCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	4/9			chr17	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GGAGAGAG others(43): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18978.hp1 NA19082.hp2 NA18978.hp1 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0182 a0001c0002t0183 a0001c0002t0182 a0001c0002t0183	a0001c0002t0182g0105 a0001c0002t0183g0170 a0001c0002t0182g0105 a0001c0002t0183g0170	2	266	0.0075	50	c.-24 others(59): Show c.-247_-246insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36413	INFO_REALIGN_3_PRIME	chr12	TogoVar
RPL18A_chr19_17854910_17868319	17867815	T T	TTTTCTTA others(43): Show TTTTCTTATGCTGCCTTAGTTTTCTCTTATCATGTTTTTCTGTAGTTCTT G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	50	c.45 others(61): Show c.4552_*4553insTTTCTTATGCTGCCTTAGTTTTCTCTTATCATGT TTTTCTGTAGTTCTTG	RPL18A	ENSG00000105640.13	transcript	ENST00000222247.10	protein_coding		4497		chr19	TogoVar
RPL26_chr17_8372516_8388193	8374937	C C	CAAAAAAA others(43): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	50	c.26 others(61): Show c.2626_*2627insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		2578		chr17	TogoVar
RPL38_chr17_74198678_74215655	74199262	G G	GAGAGAGA others(43): Show GAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG03209.hp2 HG01496.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0018 a0001c0001t0004 a0001c0001t0018	a0001c0001t0004g0002 a0001c0001t0018g0078 a0001c0001t0004g0002 a0001c0001t0018g0078	2	446	0.0045	50	c.-45 others(61): Show c.-4522_-4521insAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAA	RPL38	ENSG00000172809.13	transcript	ENST00000311111.11	protein_coding		4415		chr17	TogoVar
RPL38_chr17_74198678_74215655	74199262	G G	GAGAGAGA others(43): Show GAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0055 a0001c0001t0010g0055	1	446	0.0022	50	c.-45 others(61): Show c.-4522_-4521insAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAA	RPL38	ENSG00000172809.13	transcript	ENST00000311111.11	protein_coding		4415		chr17	TogoVar
RPL5_chr1_92827040_92846924	92846848	T T	TATATACA others(43): Show TATATACACACACGTATATATATATATACACACACGTATATATATATATA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0041 a0001c0003t0001g0041	1	331	0.0030	50	c.49 others(61): Show c.4983_*4984insATATACACACACGTATATATATATATACACACAC GTATATATATATATAC	RPL5	ENSG00000122406.14	transcript	ENST00000370321.8	protein_coding		4925		chr1	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTAT others(43): Show GTGTGTATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02080.hp1 NA19074.hp1 HG01361.hp1 HG02080.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0081 a0001c0001t0004g0210 a0001c0001t0004g0215 a0001c0001t0001g0081 a0001c0001t0004g0210 a0001c0001t0004g0215	3	318	0.0094	50	c.790 others(69): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATATATATATATATATACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar

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