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
RNF180_chr5_64160843_64377869	64225672	T T	TGCCCCGT others(30): Show TGCCCCGTCTGGGAAGTGAGGAGCGCCTCTGCCTGGCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01515.hp2 HG00738.hp1 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0122 a0001c0001t0001g0123	2	248	0.0081	37	c.122 others(56): Show c.1227+8314_1227+8350dupGCCCCGTCTGGGAAGTGAGGAGCGCC TCTGCCTGGCC	RNF180	ENSG00000164197.12	transcript	ENST00000389100.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
RNF19A_chr8_100252067_100314953	100256511	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03017.hp1 HG02976.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0219 a0001c0001t0001g0042 a0001c0001t0001g0219	2	121	0.0165	37	c.20 others(48): Show c.2044_*2045insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RNF19A	ENSG00000034677.13	transcript	ENST00000341084.7	protein_coding		555		chr8	TogoVar
RNF213_chr17_80255852_80403794	80355327	T T	TAATGGGG others(30): Show TAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACGGG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02717.hp2 HG02615.hp1 HG02717.hp2	a0063 a0069 a0063 a0069	a0063c0145 a0069c0103 a0063c0145 a0069c0103	a0063c0145t0029 a0069c0103t0029 a0063c0145t0029 a0069c0103t0029	a0063c0145t0029g0174 a0069c0103t0029g0018 a0063c0145t0029g0174 a0069c0103t0029g0018	2	281	0.0071	37	c.108 others(56): Show c.10862+758_10862+794dupGGCTTACAGGGGAAGAAGCGGGGTGA ACGGGAATGGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355360	A A	ACGGGAAT others(30): Show ACGGGAATGGGGGCTCACGGAGGAAGAAGCGGGGTGAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0060 a0060	a0060c0111 a0060c0111	a0060c0111t0024 a0060c0111t0024	a0060c0111t0024g0082 a0060c0111t0024g0082	1	286	0.0035	37	c.108 others(56): Show c.10862+794_10862+795insGGCTCACGGAGGAAGAAGCGGGGTGA CCGGGAATGGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355398	T T	TGGGAATG others(30): Show TGGGAATGGGGGCTTACAGGGGAAGAAGTGGGGTGACC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0096 a0096	a0096c0097 a0096c0097	a0096c0097t0021 a0096c0097t0021	a0096c0097t0021g0027 a0096c0097t0021g0027	1	188	0.0053	37	c.108 others(56): Show c.10862+835_10862+836insTACAGGGGAAGAAGTGGGGTGACCGG GAATGGGGGCT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355415	G G	GGGGGAAG others(30): Show GGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02897.hp2 HG03486.hp2 others(1): Show HG01891.hp2 HG02897.hp2 HG03486.hp2 NA18906.hp2	a0018 a0048 a0018 a0048	a0018c0019 a0048c0136 a0018c0019 a0048c0136	a0018c0019t0014 a0048c0136t0014 a0018c0019t0014 a0048c0136t0014	a0018c0019t0014g0017 a0018c0019t0014g0034 a0018c0019t0014g0278 others(1): Show a0018c0019t0014g0017 a0018c0019t0014g0034 a0018c0019t0014g0278 a0048c0136t0014g0011	4	274	0.0146	37	c.108 others(56): Show c.10862+840_10862+841insGGGAAGAAGCGGGGTGAATGGGAATG GGGGCTTACAG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355417	A A	AGGAAGAA others(30): Show AGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0079 a0079	a0079c0133 a0079c0133	a0079c0133t0062 a0079c0133t0062	a0079c0133t0062g0008 a0079c0133t0062g0008	1	266	0.0038	37	c.108 others(56): Show c.10862+856_10862+857insAATGGGAATGGGGGCTTACAGGGGAA GAAGCGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355486	A A	AGGGGAAG others(30): Show AGGGGAAGAAGCGGGGTGAACAGGATTGGGGGCTTATG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0060 a0060	a0060c0111 a0060c0111	a0060c0111t0024 a0060c0111t0024	a0060c0111t0024g0082 a0060c0111t0024g0082	1	275	0.0036	37	c.108 others(56): Show c.10862+911_10862+912insGGGAAGAAGCGGGGTGAACAGGATTG GGGGCTTATGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355497	C C	CGGGGTGA others(30): Show CGGGGTGACCGGGAATGGGGGCTCACAGAGGAAGAAGT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0088 a0088	a0088c0042 a0088c0042	a0088c0042t0004 a0088c0042t0004	a0088c0042t0004g0203 a0088c0042t0004g0203	1	287	0.0035	37	c.108 others(56): Show c.10862+943_10862+944insCACAGAGGAAGAAGTGGGGTGACCGG GAATGGGGGCT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355506	C C	CGGGAATG others(30): Show CGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00735.hp1 HG01081.hp1 others(8): Show HG00558.hp1 HG00735.hp1 HG01081.hp1 HG01346.hp2 HG01934.hp1 HG01952.hp1 HG02004.hp1 HG04204.hp1 NA18947.hp1 NA19070.hp1 NA19081.hp1	a0001 a0002 a0087 others(2): Show a0001 a0002 a0087 a0092 a0098	a0001c0004 a0002c0002 a0002c0010 others(3): Show a0001c0004 a0002c0002 a0002c0010 a0087c0040 a0092c0122 a0098c0070	a0001c0004t0002 a0002c0002t0002 a0002c0002t0007 others(5): Show a0001c0004t0002 a0002c0002t0002 a0002c0002t0007 a0002c0010t0002 a0002c0010t0005 a0087c0040t0002 a0092c0122t0002 a0098c0070t0007	a0001c0004t0002g0045 a0001c0004t0002g0054 a0001c0004t0002g0156 others(8): Show a0001c0004t0002g0045 a0001c0004t0002g0054 a0001c0004t0002g0156 a0002c0002t0002g0120 a0002c0002t0002g0228 a0002c0002t0007g0050 a0002c0010t0002g0187 a0002c0010t0005g0186 a0087c0040t0002g0230 a0092c0122t0002g0076 a0098c0070t0007g0145	11	272	0.0404	37	c.108 others(56): Show c.10862+945_10862+946insTGGAGGAAGAAGCGGGGTGAATGGGA ATGGGGGCTTA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355600	G G	GGGAAGAA others(30): Show GGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTATGGA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0100 a0002c0010t0002g0100	1	179	0.0056	37	c.108 others(58): Show c.10862+1040_10862+1041insACGGGAATGGGGGCTTATGGAGGA AGAAGCGGGGTGA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355600	G G	GGGAAGAA others(30): Show GGGAAGAAGCGGGGTGACCGGGAATGGGGGCTTATGGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA19070.hp1 HG00558.hp1 NA19070.hp1	a0002 a0098 a0002 a0098	a0002c0002 a0098c0070 a0002c0002 a0098c0070	a0002c0002t0007 a0098c0070t0007 a0002c0002t0007 a0098c0070t0007	a0002c0002t0007g0050 a0098c0070t0007g0145 a0002c0002t0007g0050 a0098c0070t0007g0145	2	180	0.0111	37	c.108 others(58): Show c.10862+1040_10862+1041insCCGGGAATGGGGGCTTATGGAGGA AGAAGCGGGGTGA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355618	T T	TGGGAATG others(30): Show TGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGGAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01496.hp2 HG00423.hp2 HG01496.hp2	a0001 a0043 a0001 a0043	a0001c0001 a0043c0095 a0001c0001 a0043c0095	a0001c0001t0028 a0043c0095t0001 a0001c0001t0028 a0043c0095t0001	a0001c0001t0028g0086 a0043c0095t0001g0148 a0001c0001t0028g0086 a0043c0095t0001g0148	2	172	0.0116	37	c.108 others(58): Show c.10862+1064_10862+1100dupAAGAAGCGGGGTGGACGGGAATGG GGGCTTACAGGGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355637	G G	GGGAAGAA others(30): Show GGGAAGAAGTGGGGTGAACAGGATTGGGGGCTTATGGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp2 HG03209.hp2 HG01891.hp2 HG02622.hp2 HG03209.hp2	a0048 a0065 a0079 a0048 a0065 a0079	a0048c0136 a0065c0065 a0079c0133 a0048c0136 a0065c0065 a0079c0133	a0048c0136t0014 a0065c0065t0014 a0079c0133t0062 a0048c0136t0014 a0065c0065t0014 a0079c0133t0062	a0048c0136t0014g0011 a0065c0065t0014g0028 a0079c0133t0062g0008 a0048c0136t0014g0011 a0065c0065t0014g0028 a0079c0133t0062g0008	3	245	0.0122	37	c.108 others(58): Show c.10862+1069_10862+1070insTGGGGTGAACAGGATTGGGGGCTT ATGGAGGAAGAAG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355709	C C	CGGAGGAA others(30): Show CGGAGGAAGAAGCGGGGTGAACGGGAATGGGGTCTCAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03834.hp1 NA19043.hp2 others(1): Show HG00558.hp1 HG03834.hp1 NA19043.hp2 NA19070.hp1	a0002 a0019 a0098 a0002 a0019 a0098	a0002c0002 a0002c0061 a0019c0126 others(1): Show a0002c0002 a0002c0061 a0019c0126 a0098c0070	a0002c0002t0007 a0002c0061t0002 a0019c0126t0050 others(1): Show a0002c0002t0007 a0002c0061t0002 a0019c0126t0050 a0098c0070t0007	a0002c0002t0007g0050 a0002c0061t0002g0204 a0019c0126t0050g0180 others(1): Show a0002c0002t0007g0050 a0002c0061t0002g0204 a0019c0126t0050g0180 a0098c0070t0007g0145	4	162	0.0247	37	c.108 others(58): Show c.10862+1133_10862+1134insGGAGGAAGAAGCGGGGTGAACGGG AATGGGGTCTCAG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67			chr17	TogoVar
RNF213_chr17_80255852_80403794	80355710	A A	AGGGGAAG others(30): Show AGGGGAAGAAGTGGGGTGAACAGGATTGGGGGCTTATG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0097 a0097	a0097c0114 a0097c0114	a0097c0114t0049 a0097c0114t0049	a0097c0114t0049g0269 a0097c0114t0049g0269	1	127	0.0079	37	c.108 others(58): Show c.10862+1135_10862+1136insGGGAAGAAGTGGGGTGAACAGGAT TGGGGGCTTATGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355791	A A	AAAGCGGG others(30): Show AAAGCGGGGTGACCGGGAATGGGGGCTTACAGGGGAAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0062 a0062	a0062c0109 a0062c0109	a0062c0109t0047 a0062c0109t0047	a0062c0109t0047g0084 a0062c0109t0047g0084	1	281	0.0036	37	c.108 others(58): Show c.10862+1247_10862+1248insGGAAGAAGCGGGGTGACCGGGAAT GGGGGCTTACAGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF24_chr20_3922311_4020558	3982099	C C	CCTCGTCT others(30): Show CCTCGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0195 a0001c0001t0008g0195	1	360	0.0028	37	c.-7- others(54): Show c.-7-18076_-7-18075insAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGACGAG	RNF24	ENSG00000101236.17	transcript	ENST00000358395.11	protein_coding	1/5			chr20	TogoVar
RNF2_chr1_185040558_185107603	185082345	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA21309.hp2 HG02257.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0025 a0001c0001t0008 a0001c0001t0025	a0001c0001t0008g0245 a0001c0001t0025g0280 a0001c0001t0008g0245 a0001c0001t0025g0280	2	7	0.2857	37	c.-2- others(52): Show c.-2-5185_-2-5184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	RNF2	ENSG00000121481.11	transcript	ENST00000367510.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNFT2_chr12_116733315_116858631	116782079	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0031 a0001c0006t0031	a0001c0006t0031g0067 a0001c0006t0031g0067	1	14	0.0714	37	c.882 others(54): Show c.882+2746_882+2747insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNLS_chr10_88279102_88588318	88524951	A A	ACACACAC others(30): Show ACACACACACATATATATATATATATATATATATATGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0232 a0003c0003t0006g0232	1	232	0.0043	37	c.526 others(56): Show c.526+47951_526+47952insCCATATATATATATATATATATATAT ATGTGTGTGTG	RNLS	ENSG00000184719.13	transcript	ENST00000331772.9	protein_coding	4/6			chr10	TogoVar
ROBO1_chr3_78592239_79772998	78711348	C C	CTCCTTTC others(30): Show CTCCTTTCTTTTCTTTCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0037 a0001c0008t0003g0037	1	31	0.0323	37	c.104 others(56): Show c.1045+3048_1045+3049insAGGAAGGAAGGAAGGAAGGAAGAAAG AAAAGAAAGGA	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	8/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79496387	C C	CATTTTTT others(30): Show CATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	9	0.1111	37	c.88+ others(54): Show c.88+93436_88+93437insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGAGA others(30): Show GAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0009 a0002c0002t0002g0009	1	217	0.0046	37	c.142 others(54): Show c.142-8255_142-8254insTCTCTCTCTCTCCCTCTCTCTCTCTCTC TCTCTCTCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGAGA others(30): Show GAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGGGGA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0097 a0002c0002t0003g0097	1	217	0.0046	37	c.142 others(54): Show c.142-8255_142-8254insTCCCCTCTCTCTCTCTCTCCTCTCTCTC TCTCTCTCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGAGA others(30): Show GAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01496.hp2 NA18522.hp1 others(1): Show HG01243.hp1 HG01496.hp2 NA18522.hp1 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0028 a0002c0002t0077 a0002c0002t0002 a0002c0002t0028 a0002c0002t0077	a0002c0002t0002g0019 a0002c0002t0028g0314 a0002c0002t0028g0316 others(1): Show a0002c0002t0002g0019 a0002c0002t0028g0314 a0002c0002t0028g0316 a0002c0002t0077g0315	4	220	0.0182	37	c.142 others(54): Show c.142-8255_142-8254insTCTCCCCTCTCTCTCTCTCTCCTCTCTC TCTCTCTCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGAGA others(30): Show GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGGGGAGAGA	intron_variant intron_variant	MODIFIER	HG01515.hp1 NA18989.hp1 HG01515.hp1 NA18989.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0017 a0002c0002t0002 a0002c0002t0017	a0002c0002t0002g0108 a0002c0002t0017g0225 a0002c0002t0002g0108 a0002c0002t0017g0225	2	218	0.0092	37	c.142 others(54): Show c.142-8255_142-8254insTCTCTCCCCTCTCTCTCTCTCTCCTCTC TCTCTCTCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGGAGAG others(30): Show GAGGAGAGAGAGAGAGAGGGGAGAGGGGGAGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0006 a0001c0001t0033g0006	1	217	0.0046	37	c.142 others(54): Show c.142-8255_142-8254insTCCCCCTCTCCCCCTCTCCCCTCTCTCT CTCTCTCCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROR1_chr1_63769017_64186498	64083536	T T	TGTGTGTG others(30): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0018 a0001c0010t0018	a0001c0010t0018g0072 a0001c0010t0018g0072	1	84	0.0119	37	c.482 others(56): Show c.482+32820_482+32821insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTC	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	4/8			chr1	TogoVar
ROR2_chr9_91717601_91955228	91829549	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0004 a0001c0022t0001g0004	1	90	0.0111	37	c.98- others(54): Show c.98-53732_98-53731insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
RORA_chr15_60483284_61234302	60943433	T T	TAAAAAGA others(30): Show TAAAAAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0013 a0001c0002t0003g0013	1	118	0.0085	37	c.167 others(58): Show c.167-264748_167-264747insTTTTTTTTTTTTTTTTTTTTTTTT TTTTCTTCTTTTT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORB_chr9_74492335_74698177	74549547	G G	GGGAAGGA others(30): Show GGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	169	0.0059	37	c.7+5 others(52): Show c.7+51578_7+51579insGAGGGAGGGAGGGAGGGAGGGAAGGAAGGA AGGAAGG	RORB	ENSG00000198963.11	transcript	ENST00000376896.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RPAP2_chr1_92294059_92407056	92305432	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	51	0.0196	37	c.399 others(54): Show c.399+1102_399+1103insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	RPAP2	ENSG00000122484.9	transcript	ENST00000610020.2	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPH3AL_chr17_207389_357807	233839	C C	CCCCTGAC others(30): Show CCCCTGACCAACTTCCCCGAGCAGGGAGCGGCTACTTA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01515.hp2 HG00323.hp2 HG01515.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0013 a0001c0001 a0004c0013	a0001c0001t0016 a0004c0013t0003 a0001c0001t0016 a0004c0013t0003	a0001c0001t0016g0081 a0004c0013t0003g0036 a0001c0001t0016g0081 a0004c0013t0003g0036	2	76	0.0263	37	c.613 others(56): Show c.613+13271_613+13272insTAAGTAGCCGCTCCCTGCTCGGGGAA GTTGGTCAGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	233839	C C	CCCCTGAC others(30): Show CCCCTGACCAACTTCCCTGAGCAGGGAGCGGCTACTTA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01192.hp2 HG01255.hp1 others(22): Show HG00544.hp1 HG01192.hp2 HG01255.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01978.hp2 HG02071.hp2 HG02080.hp2 HG02165.hp1 HG03453.hp2 HG03516.hp1 HG03831.hp1 NA18612.hp2 NA18940.hp2 NA18959.hp2 NA18983.hp2 NA18999.hp2 NA19003.hp2 NA19056.hp2 NA19074.hp1 NA19074.hp2 NA19088.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0007c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0021 a0001c0001t0037 a0001c0002t0001 a0001c0003t0036 a0001c0004t0001 a0001c0004t0004 a0007c0014t0018	a0001c0001t0001g0030 a0001c0001t0001g0128 a0001c0001t0002g0031 others(22): Show a0001c0001t0001g0030 a0001c0001t0001g0128 a0001c0001t0002g0031 a0001c0001t0002g0069 a0001c0001t0002g0078 a0001c0001t0003g0034 a0001c0001t0003g0052 a0001c0001t0003g0101 a0001c0001t0004g0021 a0001c0001t0004g0039 a0001c0001t0007g0098 a0001c0001t0012g0006 a0001c0001t0012g0053 a0001c0001t0013g0108 a0001c0001t0014g0023 a0001c0001t0015g0041 a0001c0001t0021g0077 a0001c0001t0037g0058 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0003t0036g0064 a0001c0004t0001g0048 a0001c0004t0001g0086 a0001c0004t0004g0014 a0007c0014t0018g0102	25	99	0.2525	37	c.613 others(56): Show c.613+13271_613+13272insTAAGTAGCCGCTCCCTGCTCAGGGAA GTTGGTCAGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	234157	G G	GCAGGGAG others(30): Show GCAGGGAGCGGCTACTTACCCTGACCAACTTCCCCGAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0007 a0006c0007t0007	a0006c0007t0007g0117 a0006c0007t0007g0117	1	130	0.0077	37	c.613 others(56): Show c.613+12953_613+12954insTTCGGGGAAGTTGGTCAGGGTAAGTA GCCGCTCCCTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	250074	G G	GTCCATCA others(30): Show GTCCATCACTGCGGGACCTCTCAGAGCCTTTACTAAGC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01192.hp1 HG01258.hp1 others(5): Show HG01070.hp1 HG01192.hp1 HG01258.hp1 HG01361.hp2 HG01943.hp2 HG02165.hp2 NA18993.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0006t0004	a0001c0001t0002g0010 a0001c0001t0002g0061 a0001c0001t0004g0097 others(5): Show a0001c0001t0002g0010 a0001c0001t0002g0061 a0001c0001t0004g0097 a0001c0001t0004g0121 a0001c0001t0008g0130 a0001c0001t0013g0107 a0001c0001t0014g0106 a0001c0006t0004g0022	8	132	0.0606	37	c.439 others(54): Show c.439-2826_439-2790dupGCTTAGTAAAGGCTCTGAGAGGTCCCGC AGTGATGGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	319893	G G	GGGGGAGG others(30): Show GGGGGAGGGAGGGGGGGAGGGAGGGGGAGGGAGATTGA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0074 a0001c0001t0035g0074	1	118	0.0085	37	c.222 others(52): Show c.222-345_222-344insTCAATCTCCCTCCCCCTCCCTCCCCCCCTC CCTCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	4/9			chr17	TogoVar
RPH3A_chr12_112786748_112903881	112791857	A A	AGAGAGAG others(30): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0201 a0001c0001t0201	a0001c0001t0201g0131 a0001c0001t0201g0131	1	263	0.0038	37	c.-29 others(46): Show c.-295_-294insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36461		chr12	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GAGAGAGA others(30): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01243.hp1 HG01433.hp2 NA18973.hp2 HG01243.hp1 HG01433.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0068 a0001c0002t0066 a0001c0002t0067 a0001c0001t0068 a0001c0002t0066 a0001c0002t0067	a0001c0001t0068g0163 a0001c0002t0066g0216 a0001c0002t0067g0137 a0001c0001t0068g0163 a0001c0002t0066g0216 a0001c0002t0067g0137	3	9	0.3333	37	c.-28 others(46): Show c.-285_-284insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG A	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36451		chr12	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	155	0.0065	37	c.-17 others(48): Show c.-1706_-1705insTATATATATATATATATATATATATATTTTTTTT TTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL31_chr2_100997289_101012267	101012095	A A	ACCCCCCC others(30): Show ACCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	438	0.0023	37	c.57 others(48): Show c.5714_*5715insCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCCC CCC	RPL31	ENSG00000071082.11	transcript	ENST00000264258.8	protein_coding		4829		chr2	TogoVar
RPS6KC1_chr1_213046241_213279774	213118021	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	97	0.0103	37	c.472 others(52): Show c.472+629_472+630insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPSA2_chr19_23758004_23833868	23761906	T T	TCTCTCTC others(30): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCGCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0340 a0001c0001t0001g0340	1	253	0.0040	37	c.-15 others(48): Show c.-1531_-1530insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCGCTCT CTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1097		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761906	T T	TCTCTCTC others(30): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCGCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00735.hp1 HG00738.hp2 others(26): Show HG00323.hp1 HG00735.hp1 HG00738.hp2 HG01070.hp2 HG01074.hp2 HG01099.hp2 HG01257.hp1 HG01358.hp2 HG01515.hp1 HG01517.hp2 HG02004.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp2 HG02735.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG03130.hp2 HG03239.hp2 HG03453.hp1 HG03516.hp1 HG03704.hp2 HG03834.hp1 NA18969.hp1 NA18975.hp2 NA19000.hp1 NA19060.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0014 a0001c0001t0016 others(16): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0040 a0001c0001t0041 a0001c0001t0044 a0001c0001t0047 a0001c0001t0093 a0001c0001t0094 a0001c0001t0099 a0001c0001t0109 a0001c0001t0111 a0001c0001t0112 a0001c0001t0119 a0002c0002t0002 a0002c0002t0003 a0002c0002t0032 a0002c0002t0078	a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0305 others(26): Show a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0305 a0001c0001t0001g0323 a0001c0001t0001g0330 a0001c0001t0014g0344 a0001c0001t0016g0326 a0001c0001t0018g0277 a0001c0001t0018g0303 a0001c0001t0040g0258 a0001c0001t0040g0310 a0001c0001t0041g0241 a0001c0001t0041g0322 a0001c0001t0044g0284 a0001c0001t0047g0316 a0001c0001t0093g0352 a0001c0001t0094g0353 a0001c0001t0099g0334 a0001c0001t0109g0280 a0001c0001t0111g0299 a0001c0001t0112g0354 a0001c0001t0119g0270 a0002c0002t0002g0248 a0002c0002t0003g0242 a0002c0002t0003g0250 a0002c0002t0003g0252 a0002c0002t0003g0333 a0002c0002t0032g0257 a0002c0002t0078g0251	29	281	0.1032	37	c.-15 others(48): Show c.-1531_-1530insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCGCT CTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1097		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761906	T T	TCTCTCTC others(30): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0342 a0001c0001t0001g0342	1	253	0.0040	37	c.-15 others(48): Show c.-1531_-1530insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CGC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1097		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761921	T T	TCTCTCTC others(30): Show TCTCTCTCTCTCTCTCTCTCGCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0337 a0001c0001t0006g0337	1	226	0.0044	37	c.-15 others(48): Show c.-1516_-1515insCTCTCTCTCTCTCTCTCTCGCTCTCTCTCTCTCT CTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1082		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80660421	A A	ATAGAAGA others(30): Show ATAGAAGACAGTGATGGATCGTACAACCTTTGGCACCT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0007 a0001c0015t0007	a0001c0015t0007g0140 a0001c0015t0007g0140	1	194	0.0052	37	c.348 others(56): Show c.348+16616_348+16652dupAGACAGTGATGGATCGTACAACCTTT GGCACCTTAGA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80685627	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0098 a0001c0032t0098	a0001c0032t0098g0052 a0001c0032t0098g0052	1	38	0.0263	37	c.349 others(56): Show c.349-22213_349-22212insATATATATATATATATATATATATAT ATATATATATT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80685627	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0028 a0001c0002t0002g0028	1	38	0.0263	37	c.349 others(56): Show c.349-22213_349-22212insATATATATATATATATATATATATAT ATATATTTTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar

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