Joint Open Genome and Omics Platform (JoGo)

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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
RNF24_chr20_3922311_4020558	3982103	G G	GTCTCTCT others(19): Show GTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0023 a0001c0001t0097g0023	1	362	0.0028	26	c.-7- others(43): Show c.-7-18105_-7-18080dupGAGAGAGAGAGAGAGAGAGAGAGAGA	RNF24	ENSG00000101236.17	transcript	ENST00000358395.11	protein_coding	1/5			chr20	TogoVar
RNF2_chr1_185040558_185107603	185082345	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA18998.hp1 NA19001.hp2 others(2): Show HG02293.hp1 NA18998.hp1 NA19001.hp2 NA19002.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0007 a0002c0004t0001 a0001c0001t0001 a0001c0001t0007 a0002c0004t0001	a0001c0001t0001g0108 a0001c0001t0001g0116 a0001c0001t0007g0215 others(2): Show a0001c0001t0001g0108 a0001c0001t0001g0116 a0001c0001t0007g0215 a0001c0001t0007g0217 a0002c0004t0001g0121	5	350	0.0143	26	c.-2- others(41): Show c.-2-5185_-2-5184insTTTTTTTTTTTTTTTTTTTTTTTTTT	RNF2	ENSG00000121481.11	transcript	ENST00000367510.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF38_chr9_36331400_36405269	36336177	A A	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	402	0.0025	26	c.35 others(37): Show c.3574_*3575insATATATATATATATATATATTTTTTT	RNF38	ENSG00000137075.18	transcript	ENST00000259605.11	protein_coding		222		chr9	TogoVar
RNF4_chr4_2464106_2520857	2466645	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0269 a0001c0001t0020g0269	1	378	0.0027	26	c.-27 others(37): Show c.-2771_-2770insTGTGTGTGTGTGTGTGTGTGTGTGTG	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding		2460		chr4	TogoVar
RNF4_chr4_2464106_2520857	2466647	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01243.hp2 HG02451.hp1 others(14): Show HG00735.hp1 HG01243.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG03041.hp2 HG03139.hp1 HG03471.hp2 HG03540.hp1 NA18968.hp1 NA18977.hp2 NA20129.hp1 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0001t0016 a0001c0003t0014	a0001c0001t0002g0194 a0001c0001t0002g0205 a0001c0001t0003g0170 others(14): Show a0001c0001t0002g0194 a0001c0001t0002g0205 a0001c0001t0003g0170 a0001c0001t0003g0238 a0001c0001t0004g0292 a0001c0001t0006g0151 a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0154 a0001c0001t0006g0157 a0001c0001t0006g0159 a0001c0001t0006g0160 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0001t0013g0369 a0001c0001t0016g0158 a0001c0003t0014g0370	17	378	0.0450	26	c.-27 others(37): Show c.-2769_-2768insTGTGTGTGTGTGTGTGTGTGTGTGTG	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding		2458		chr4	TogoVar
RNF4_chr4_2464106_2520857	2484067	T T	TCCCCCCC others(19): Show TCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA20752.hp2 NA18968.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0348 a0001c0001t0002g0185 a0001c0001t0001g0348 a0001c0001t0002g0185	2	378	0.0053	26	c.-15 others(45): Show c.-157-6262_-157-6261insCCCCCCCCCCCCCCCCCCCCCCCCCC	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
RNF4_chr4_2464106_2520857	2505723	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0351 a0001c0001t0015g0351	1	378	0.0027	26	c.204 others(43): Show c.204+4990_204+5015dupTTTTTTTTTTTTTTTTTTTTTTTTTT	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
RNF4_chr4_2464106_2520857	2518307	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0220 a0001c0001t0009g0220	1	378	0.0027	26	c.44 others(37): Show c.4488_*4489insTTTTTTTTTTTTTTTTTTTTTTTTTT	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding		2451		chr4	TogoVar
RNFT2_chr12_116733315_116858631	116782079	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18906.hp1 HG02280.hp2 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0100 a0001c0003t0002g0102 a0001c0003t0002g0100 a0001c0003t0002g0102	2	268	0.0075	26	c.882 others(43): Show c.882+2746_882+2747insAAAAAAAAAAAAAAAAAAAAAAAAAA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNFT2_chr12_116733315_116858631	116785249	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0036 a0001c0006t0036	a0001c0006t0036g0018 a0001c0006t0036g0018	1	268	0.0037	26	c.882 others(43): Show c.882+5902_882+5927dupTGTGTGTGTGTGTGTGTGTGTGTGTG	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNFT2_chr12_116733315_116858631	116794674	G G	GGGAGGGA others(19): Show GGGAGGGAGGGAGGGAGGGAGGAGGGA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0231 a0001c0001t0007g0231	1	268	0.0037	26	c.882 others(45): Show c.882+15345_882+15346insGGAGGGAGGAGGGAGGGAGGGAGGGA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNGTT_chr6_88604897_88968618	88647701	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 NA18965.hp1 HG00733.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0015 a0001c0001t0001g0020	2	220	0.0091	26	c.150 others(47): Show c.1506+30651_1506+30652insTTTTTTTTTTTTTTTTTTTTTTTT TT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	14/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88647715	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	220	0.0046	26	c.150 others(47): Show c.1506+30637_1506+30638insCTTTTTTTTTTTTTTTTTTTTTTT TT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	14/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88647715	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAGAAAAAAGAAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03471.hp2 HG02109.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0169 a0001c0001t0004g0172 a0001c0001t0004g0169 a0001c0001t0004g0172	2	220	0.0091	26	c.150 others(47): Show c.1506+30637_1506+30638insCTTCTTTTTTCTTTTTTTTTTTTT TT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	14/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88697893	T T	TATATATA others(19): Show TATATATATGATATATATATGAAATAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp1 NA18974.hp2 others(2): Show HG00735.hp2 HG01106.hp1 NA18974.hp2 NA19010.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0111 a0001c0001t0001g0121 a0001c0001t0001g0165 others(2): Show a0001c0001t0001g0111 a0001c0001t0001g0121 a0001c0001t0001g0165 a0001c0001t0002g0061 a0001c0001t0002g0064	5	220	0.0227	26	c.144 others(47): Show c.1440-19500_1440-19475dupGTATTTCATATATATATCATATAT AT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	13/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88697999	C C	CATATATG others(19): Show CATATATGATATATATATGAAATACAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00639.hp1 others(43): Show HG00099.hp2 HG00408.hp2 HG00639.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01496.hp2 HG01516.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02074.hp2 HG02145.hp1 HG02273.hp2 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02698.hp2 HG02735.hp2 HG03492.hp2 HG03704.hp1 HG03710.hp1 NA18944.hp1 NA18945.hp2 NA18960.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18974.hp1 NA18998.hp1 NA18998.hp2 NA19005.hp1 NA19005.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0002c0003t0001	a0001c0001t0001g0022 a0001c0001t0001g0038 a0001c0001t0001g0039 others(43): Show a0001c0001t0001g0022 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0207 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0087 a0001c0001t0002g0166 a0001c0001t0010g0021 a0001c0001t0013g0043 a0001c0001t0015g0085 a0002c0003t0001g0047	46	220	0.2091	26	c.144 others(47): Show c.1440-19606_1440-19581dupATGTATTTCATATATATATCATAT AT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	13/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88698157	T T	TACATGAT others(19): Show TACATGATATATATATGAAATACATGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0220 a0001c0001t0016g0220	1	220	0.0046	26	c.144 others(47): Show c.1440-19739_1440-19738insTCATGTATTTCATATATATATCAT GT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	13/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88698258	T T	TATAAATA others(19): Show TATAAATATATATATGATATATGTTTC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	220	0.0046	26	c.144 others(47): Show c.1440-19840_1440-19839insGAAACATATATCATATATATATTT AT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	13/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88930044	A A	ATATACAT others(19): Show ATATACATATACATGTATATGCATATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00733.hp1 others(29): Show HG00099.hp1 HG00140.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01255.hp1 HG01258.hp2 HG01496.hp2 HG01884.hp1 HG02056.hp1 HG02074.hp1 HG02145.hp1 HG02451.hp2 HG02559.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG04115.hp2 NA18965.hp1 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0014	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 others(29): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0132 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0175 a0001c0001t0003g0025 a0001c0001t0003g0141 a0001c0001t0003g0218 a0001c0001t0004g0150 a0001c0001t0005g0149 a0001c0001t0005g0153 a0001c0001t0010g0021 a0001c0001t0014g0028	32	220	0.1455	26	c.175 others(41): Show c.175-803_175-778dupCATATGCATATACATGTATATGTATA	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	2/15			chr6	TogoVar
ROBO1_chr3_78592239_79772998	79395340	A A	AAAAAAGA others(19): Show AAAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	44	0.0227	26	c.88+ others(45): Show c.88+194483_88+194484insCTTTCTTTCTTTCTTTCTTTCTTTTT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79484755	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	44	0.0227	26	c.88+ others(45): Show c.88+105068_88+105069insAAAAAAAAAAAAAAAAAAAAAAAAAA	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79550195	G G	GAAAGAAA others(19): Show GAAAGAAAGGAAAGAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0016 a0001c0002t0003g0016	1	44	0.0227	26	c.88+ others(43): Show c.88+39628_88+39629insTTTTCTTTTCTTTCTTTCCTTTCTTT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79560558	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03490.hp1 HG06807.hp2 HG02109.hp1 HG03490.hp1 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0009 a0003c0006t0006 a0001c0001t0009 a0003c0006t0006	a0001c0001t0009g0006 a0003c0006t0006g0011 a0003c0006t0006g0040 a0001c0001t0009g0006 a0003c0006t0006g0011 a0003c0006t0006g0040	3	44	0.0682	26	c.88+ others(43): Show c.88+29265_88+29266insGTATATATATATATATATATATATAT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79762609	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG03579.hp2 HG02055.hp2 HG02451.hp1 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0003c0009 a0001c0001 a0001c0008 a0003c0009	a0001c0001t0014 a0001c0008t0015 a0003c0009t0017 a0001c0001t0014 a0001c0008t0015 a0003c0009t0017	a0001c0001t0014g0041 a0001c0008t0015g0043 a0003c0009t0017g0042 a0001c0001t0014g0041 a0001c0008t0015g0043 a0003c0009t0017g0042	3	44	0.0682	26	c.-51 others(43): Show c.-51+5142_-51+5143insGTGTGTGTGTGTGTGTGTGTGTGTGT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	1/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79771309	C C	CATGTACA others(19): Show CATGTACATACACACATATACACGCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0003 a0001c0007t0003g0003	1	44	0.0227	26	c.-36 others(37): Show c.-3609_-3608insATGCGTGTATATGTGTGTATGTACAT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding		3312		chr3	TogoVar
ROBO1_chr3_78592239_79772998	79771355	T T	TATATACG others(19): Show TATATACGCATATATGTATATACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0025 a0001c0001t0011g0025	1	44	0.0227	26	c.-36 others(37): Show c.-3655_-3654insGTGTGTATATACATATATGCGTATAT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding		3358		chr3	TogoVar
ROBO1_chr3_78592239_79772998	79771631	T T	TATGTATA others(19): Show TATGTATACACATATACATATGTACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG03041.hp2 others(3): Show HG01109.hp2 HG01884.hp1 HG03041.hp2 HG03490.hp1 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001	a0001c0001t0002g0007 a0001c0001t0005g0005 a0001c0001t0009g0006 others(3): Show a0001c0001t0002g0007 a0001c0001t0005g0005 a0001c0001t0009g0006 a0001c0001t0011g0025 a0001c0001t0012g0027 a0001c0002t0001g0026	6	44	0.1364	26	c.-39 others(37): Show c.-3931_-3930insGTGTACATATGTATATGTGTATACAT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding		3634		chr3	TogoVar
ROBO1_chr3_78592239_79772998	79771655	T T	TACACATA others(19): Show TACACATATGTATACATGCACATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG03225.hp2 HG03486.hp2 others(1): Show HG02451.hp2 HG03225.hp2 HG03486.hp2 HG03490.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0004c0010	a0001c0001t0010 a0001c0003t0002 a0001c0007t0003 others(1): Show a0001c0001t0010 a0001c0003t0002 a0001c0007t0003 a0004c0010t0002	a0001c0001t0010g0034 a0001c0003t0002g0033 a0001c0007t0003g0032 others(1): Show a0001c0001t0010g0034 a0001c0003t0002g0033 a0001c0007t0003g0032 a0004c0010t0002g0031	4	44	0.0909	26	c.-39 others(37): Show c.-3955_-3954insGTATATGTGCATGTATACATATGTGT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding		3658		chr3	TogoVar
ROBO2_chr3_77035099_77654964	77108251	C C	CATATATA others(19): Show CATATATATGTATACACATATGCATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03710.hp2 NA18973.hp2 others(1): Show HG01243.hp1 HG03710.hp2 NA18973.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 a0001c0001t0047	a0001c0001t0001g0069 a0001c0001t0006g0025 a0001c0001t0017g0085 others(1): Show a0001c0001t0001g0069 a0001c0001t0006g0025 a0001c0001t0017g0085 a0001c0001t0047g0026	4	160	0.0250	26	c.388 others(44): Show c.388+9977_388+10002dupCACATATGCATATATATATATGTATA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77126697	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0156 a0001c0001t0031g0156	1	160	0.0063	26	c.388 others(45): Show c.388+28373_388+28374insATATATATATATATATATATATATAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77180416	C C	CTCTCTCT others(19): Show CTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG03492.hp2 HG00280.hp2 HG00642.hp2 HG03492.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0013 a0001c0001 a0009c0013	a0001c0001t0001 a0001c0001t0005 a0009c0013t0004 a0001c0001t0001 a0001c0001t0005 a0009c0013t0004	a0001c0001t0001g0061 a0001c0001t0005g0050 a0009c0013t0004g0059 a0001c0001t0001g0061 a0001c0001t0005g0050 a0009c0013t0004g0059	3	160	0.0188	26	c.388 others(45): Show c.388+82077_388+82078insCTCTCTATATATATATATATATATAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77180416	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	160	0.0063	26	c.388 others(45): Show c.388+82077_388+82078insCTCTCTCTCTCTCTCTATATATATAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77188968	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGAGAGAGACAGAGA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	160	0.0063	26	c.388 others(45): Show c.388+90629_388+90630insTGTGTGTGTGTGAGAGAGACAGAGAG	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77252831	A A	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0011 a0001c0001t0037g0011	1	160	0.0063	26	c.388 others(47): Show c.388+154492_388+154493insAAAAAATATATATATATATATATA TA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77252831	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0029	1	160	0.0063	26	c.388 others(47): Show c.388+154511_388+154512insATATATATATATATATATATATAT AT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77433486	G G	GTACATAT others(19): Show GTACATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA19011.hp1 HG02293.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0130 a0001c0001t0003g0073 a0001c0001t0001g0130 a0001c0001t0003g0073	2	160	0.0125	26	c.389 others(45): Show c.389-43926_389-43925insCATATATATATATATATATATATATA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77433486	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG03225.hp2 HG01256.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0001 a0001c0001t0028	a0001c0001t0001g0056 a0001c0001t0028g0084 a0001c0001t0001g0056 a0001c0001t0028g0084	2	160	0.0125	26	c.389 others(45): Show c.389-43920_389-43895dupATATATATATATATATATATATATAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77598512	C C	CATATATA others(19): Show CATATATATATGTGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA20129.hp2 HG01106.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0053 a0001c0001t0011g0154 a0001c0001t0011g0053 a0001c0001t0011g0154	2	160	0.0125	26	c.286 others(45): Show c.2866+1772_2866+1773insGTGTATATATATATATATATATATAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROCK1_chr18_20941906_21116813	20958988	A A	ATAATATA others(19): Show ATAATATATATAATATATATATTTTAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02559.hp2 others(4): Show HG01891.hp1 HG02055.hp1 HG02559.hp2 HG02809.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0025 a0001c0001t0004g0027 a0001c0001t0004g0028 others(4): Show a0001c0001t0004g0025 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032	7	212	0.0330	26	c.351 others(43): Show c.3512+851_3512+852insATAAAATATATATATTATATATATTA	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32			chr18	TogoVar
ROCK1_chr18_20941906_21116813	20959086	T T	TATATAAT others(19): Show TATATAATATATATAATATTATATATA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	212	0.0047	26	c.351 others(43): Show c.3512+753_3512+754insTATATATAATATTATATATATTATAT	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32			chr18	TogoVar
ROCK1_chr18_20941906_21116813	20959086	T T	TTTATATA others(19): Show TTTATATAATATATATAATATTATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	212	0.0047	26	c.351 others(43): Show c.3512+753_3512+754insTATATAATATTATATATATTATATAA	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32			chr18	TogoVar
ROCK1_chr18_20941906_21116813	20959095	T T	TATATATA others(19): Show TATATATAATATTATATATATTATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0206 a0001c0001t0010g0206	1	212	0.0047	26	c.351 others(43): Show c.3512+744_3512+745insTATATAATATATATAATATTATATAT	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32			chr18	TogoVar
ROCK1_chr18_20941906_21116813	20959132	A A	ATTATATA others(19): Show ATTATATATATTATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	212	0.0047	26	c.351 others(43): Show c.3512+707_3512+708insATATATATATTATATAATATATATAA	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32			chr18	TogoVar
ROCK1_chr18_20941906_21116813	21033854	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01361.hp2 HG00738.hp1 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0093 a0001c0001t0003g0043 a0001c0001t0003g0093	2	212	0.0094	26	c.105 others(45): Show c.1052-4945_1052-4920dupTTTTTTTTTTTTTTTTTTTTTTTTTT	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	9/32			chr18	TogoVar
ROCK2_chr2_11174759_11349636	11238209	A A	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02145.hp1 HG02717.hp1 others(6): Show HG01123.hp1 HG02145.hp1 HG02717.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 NA18985.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0007 a0001c0001t0024 others(1): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0024 a0001c0003t0006	a0001c0001t0004g0207 a0001c0001t0004g0213 a0001c0001t0004g0243 others(6): Show a0001c0001t0004g0207 a0001c0001t0004g0213 a0001c0001t0004g0243 a0001c0001t0004g0246 a0001c0001t0004g0248 a0001c0001t0007g0274 a0001c0001t0024g0216 a0001c0003t0006g0300 a0001c0003t0006g0310	9	320	0.0281	26	c.463 others(43): Show c.463-2273_463-2248dupACACACACACACACACACACACACAC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	4/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGGAG others(19): Show GAGAGGAGAGAGAGAGAGAGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0116 a0002c0002t0011g0116	1	320	0.0031	26	c.142 others(43): Show c.142-8255_142-8254insTCCCCCTCTCTCTCTCTCTCTCCTCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GGGGAGAG others(19): Show GGGGAGAGGGGGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01261.hp1 HG02074.hp2 others(5): Show HG00558.hp2 HG01261.hp1 HG02074.hp2 HG02129.hp1 NA18941.hp2 NA18965.hp2 NA19006.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0022 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0022 a0001c0001t0068	a0001c0001t0001g0129 a0001c0001t0001g0188 a0001c0001t0001g0222 others(5): Show a0001c0001t0001g0129 a0001c0001t0001g0188 a0001c0001t0001g0222 a0001c0001t0010g0155 a0001c0001t0010g0172 a0001c0001t0010g0227 a0001c0001t0022g0181 a0001c0001t0068g0147	8	320	0.0250	26	c.142 others(43): Show c.142-8270_142-8269insTCTCTCTCTCTCTCTCCCCCTCTCCC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11317612	A A	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA20129.hp1 NA18985.hp2 NA20129.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0009 a0006c0008t0038 a0001c0001t0009 a0006c0008t0038	a0001c0001t0009g0254 a0006c0008t0038g0091 a0001c0001t0009g0254 a0006c0008t0038g0091	2	320	0.0063	26	c.141 others(45): Show c.141+26383_141+26384insAAAAAAAATATATATATATATATATA	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11330740	G G	GGGAGGAG others(19): Show GGGAGGAGGGAGGAGGAGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02071.hp1 NA18612.hp1 others(2): Show HG00609.hp1 HG02071.hp1 NA18612.hp1 NA18947.hp2 NA19070.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0012 a0001c0003t0006 a0001c0003t0012	a0001c0003t0006g0303 a0001c0003t0006g0308 a0001c0003t0012g0297 others(2): Show a0001c0003t0006g0303 a0001c0003t0006g0308 a0001c0003t0012g0297 a0001c0003t0012g0299 a0001c0003t0012g0302	5	320	0.0156	26	c.141 others(45): Show c.141+13230_141+13255dupTCCTCCCTCCTCCTCCTCCCTCCTCC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROPN1_chr3_123964015_123997124	123986018	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG02074.hp1 others(11): Show HG00423.hp2 HG00438.hp1 HG02074.hp1 HG02080.hp1 HG02602.hp1 NA18940.hp2 NA18945.hp2 NA18952.hp1 NA18991.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19062.hp2 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0037 a0001c0002t0001g0074 others(8): Show a0001c0002t0001g0018 a0001c0002t0001g0037 a0001c0002t0001g0074 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0170 a0001c0002t0001g0171	14	416	0.0337	26	c.-12 others(43): Show c.-12-5526_-12-5525insATTTTTTTTTTTTTTTTTTTTTTTTT	ROPN1	ENSG00000065371.18	transcript	ENST00000405845.8	protein_coding	1/5			chr3	TogoVar

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