Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
PXDNL_chr8_51314577_51814445	51744954	AAGAAAGA others(33): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp1 HG01243.hp1 others(3): Show HG00438.hp1 HG00673.hp1 HG01243.hp1 HG03492.hp1 NA18747.hp1 NA18984.hp1	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0031	a0001c0001 a0003c0003 a0008c0030 others(1): Show a0001c0001 a0003c0003 a0008c0030 a0031c0031	a0001c0001t0002 a0003c0003t0001 a0003c0003t0002 others(2): Show a0001c0001t0002 a0003c0003t0001 a0003c0003t0002 a0008c0030t0002 a0031c0031t0002	a0001c0001t0002g0097 a0001c0001t0002g0113 a0003c0003t0001g0051 others(3): Show a0001c0001t0002g0097 a0001c0001t0002g0113 a0003c0003t0001g0051 a0003c0003t0002g0107 a0008c0030t0002g0105 a0031c0031t0002g0121	6	120	0.0500	-40	c.164 others(59): Show c.164+64187_164+64226delCCCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
PXDN_chr2_1626887_1749515	1703839	GGGGGGAC others(33): Show GGGGGGACAGCTCCAGGTGAAGGGGGGCAACTCCAGGTGAA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0008 a0001c0010t0008	a0001c0010t0008g0049 a0001c0010t0008g0049	1	269	0.0037	-40	c.201 others(59): Show c.201-10745_201-10706delTTCACCTGGAGTTGCCCCCCTTCACC TGGAGCTGTCCCCC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXMP2_chr12_132682587_132709985	132693601	TAGTTAGT others(33): Show TAGTTAGTGAGCGCCCTTGCCAGTCAGTGAGCGCCCTTGCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG00735.hp1 others(73): Show HG00438.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp2 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02293.hp1 HG02523.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG03017.hp2 HG03041.hp2 HG03490.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18906.hp1 NA18939.hp2 NA18952.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp2 NA18966.hp1 NA18969.hp2 NA18979.hp2 NA18989.hp2 NA18993.hp1 NA18998.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19067.hp2 NA19080.hp2 NA19084.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA20129.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0009 a0001c0002 a0004c0009	a0001c0002t0002 a0001c0002t0006 a0004c0009t0002 a0001c0002t0002 a0001c0002t0006 a0004c0009t0002	a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0028 others(30): Show a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0036 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0142 a0001c0002t0002g0150 a0001c0002t0006g0002 a0004c0009t0002g0060	76	348	0.2184	-40	c.237 others(57): Show c.237-2259_237-2220delCAGTGAGCGCCCTTGCCAGTTAGTGAGC GCCCTTGCCAGT	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
PXMP2_chr12_132682587_132709985	132694372	TAGTGAGC others(33): Show TAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCGCCCTTGCC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	348	0.0029	-40	c.237 others(57): Show c.237-1508_237-1469delGAGCGCCCTTGCCAGTTAGTTAGTGAGC GCCCTTGCCAGT	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
PYM1_chr12_55896413_55932894	55920661	AAAAAGAA others(33): Show AAAAAGAAAATAACCCTAAATGCCGAAAAAGATGCATGCAC	A A	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0235	1	342	0.0029	-40	c.37+ others(55): Show c.37+7024_37+7063delGTGCATGCATCTTTTTCGGCATTTAGGGTT ATTTTCTTTT	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
QNG1_chr9_83933311_83961742	83948275	AGCAGCCG others(33): Show AGCAGCCGCCCCGCCTGGGAAGTGAGGAGCCCCTCCGCCCG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG02040.hp1 others(13): Show HG00423.hp2 HG00438.hp2 HG02040.hp1 HG02129.hp1 HG03654.hp1 NA18942.hp2 NA18944.hp2 NA18961.hp1 NA18978.hp2 NA18999.hp2 NA19011.hp1 NA19062.hp2 NA19065.hp1 NA19074.hp2 NA19077.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0028 a0001c0001t0004 a0001c0001t0008 a0001c0001t0028	a0001c0001t0004g0006 a0001c0001t0004g0033 a0001c0001t0004g0104 others(6): Show a0001c0001t0004g0006 a0001c0001t0004g0033 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0008g0145 a0001c0001t0008g0146 a0001c0001t0028g0141	16	392	0.0408	-40	c.598 others(57): Show c.598-3326_598-3287delCGGGCGGAGGGGCTCCTCACTTCCCAGG CGGGGCGGCTGC	QNG1	ENSG00000165118.15	transcript	ENST00000376344.8	protein_coding	2/3			chr9	TogoVar
QNG1_chr9_83933311_83961742	83948306	CCTCCGCC others(33): Show CCTCCGCCCGGCAGCCGCCCCGTCTGGGAAGTGAGGAGGGT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00735.hp2 HG00741.hp1 others(45): Show HG00609.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp2 HG01099.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG02083.hp1 HG02293.hp1 HG02683.hp1 HG03041.hp2 HG03098.hp2 HG03453.hp2 HG03490.hp1 HG03540.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG04199.hp2 NA18940.hp1 NA18942.hp1 NA18962.hp1 NA18973.hp1 NA18981.hp1 NA18983.hp1 NA18985.hp2 NA18989.hp2 NA18995.hp2 NA19005.hp1 NA19010.hp1 NA19011.hp2 NA19057.hp2 NA19060.hp2 NA19067.hp1 NA19072.hp2 NA19077.hp2 NA19083.hp2 NA19084.hp2 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0016 a0001c0001t0003 a0001c0001t0016	a0001c0001t0003g0004 a0001c0001t0003g0007 a0001c0001t0003g0013 others(21): Show a0001c0001t0003g0004 a0001c0001t0003g0007 a0001c0001t0003g0013 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0016g0116 a0001c0001t0016g0118	48	392	0.1224	-40	c.598 others(57): Show c.598-3357_598-3318delACCCTCCTCACTTCCCAGACGGGGCGGC TGCCGGGCGGAG	QNG1	ENSG00000165118.15	transcript	ENST00000376344.8	protein_coding	2/3			chr9	TogoVar
RAB11FIP1_chr8_37853618_37904497	37895237	ATATATAT others(33): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp2 NA18906.hp1 HG02622.hp1 HG02647.hp2 NA18906.hp1	a0001 a0002 a0036 a0001 a0002 a0036	a0001c0023 a0002c0021 a0036c0020 a0001c0023 a0002c0021 a0036c0020	a0001c0023t0001 a0002c0021t0001 a0036c0020t0001 a0001c0023t0001 a0002c0021t0001 a0036c0020t0001	a0001c0023t0001g0008 a0002c0021t0001g0005 a0036c0020t0001g0007 a0001c0023t0001g0008 a0002c0021t0001g0005 a0036c0020t0001g0007	3	261	0.0115	-40	c.371 others(57): Show c.371+3794_371+3833delAAAAAAAAAAAAAAAAAATATATATATA TATATATATATA	RAB11FIP1	ENSG00000156675.16	transcript	ENST00000330843.9	protein_coding	1/5			chr8	TogoVar
RAB11FIP3_chr16_420649_528011	503976	CACCTCCT others(33): Show CACCTCCTGTACCCCCTCACCACCTCCTGTACCCCCTCACT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0065 a0001c0001t0005g0065	1	294	0.0034	-40	c.139 others(57): Show c.1395+899_1395+938delCACCTCCTGTACCCCCTCACTACCTCCT GTACCCCCTCAC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB19_chr7_140399058_140432974	140431391	CGGCCGCC others(33): Show CGGCCGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0116 a0001c0001t0024g0116	1	439	0.0023	-40	c.52 others(51): Show c.5242_*5281delGGCCGCCACCCCGTCTGGGAAGTGAGGAGCGTCT CTGCCT	RAB19	ENSG00000146955.11	transcript	ENST00000537763.6	protein_coding		3418		chr7	TogoVar
RAB19_chr7_140399058_140432974	140431625	GCCGCCCC others(33): Show GCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0037 a0001c0009t0037	a0001c0009t0037g0265 a0001c0009t0037g0265	1	440	0.0023	-40	c.54 others(51): Show c.5476_*5515delCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCC TGGCAA	RAB19	ENSG00000146955.11	transcript	ENST00000537763.6	protein_coding		3652		chr7	TogoVar
RAB22A_chr20_58304715_58372507	58309453	GCAGGGGC others(33): Show GCAGGGGCGGGGCCCTGCAGACAGGGGCGGGGCCCTGCAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00544.hp2 HG01069.hp1 others(22): Show HG00099.hp1 HG00544.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01167.hp2 HG01358.hp1 HG01496.hp1 HG02055.hp2 HG02622.hp2 HG02965.hp2 HG02970.hp2 HG03453.hp2 HG03710.hp2 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp2 NA18952.hp2 NA18971.hp1 NA18984.hp1 NA18991.hp2 NA19055.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0025 a0001c0001t0049 a0001c0001t0068 a0001c0001t0079 a0001c0001t0091	a0001c0001t0001g0278 a0001c0001t0001g0303 a0001c0001t0001g0304 others(22): Show a0001c0001t0001g0278 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0312 a0001c0001t0001g0325 a0001c0001t0002g0023 a0001c0001t0002g0068 a0001c0001t0002g0137 a0001c0001t0004g0020 a0001c0001t0004g0059 a0001c0001t0004g0063 a0001c0001t0004g0155 a0001c0001t0004g0333 a0001c0001t0005g0005 a0001c0001t0006g0176 a0001c0001t0008g0159 a0001c0001t0010g0187 a0001c0001t0011g0003 a0001c0001t0016g0197 a0001c0001t0017g0079 a0001c0001t0025g0016 a0001c0001t0049g0245 a0001c0001t0068g0243 a0001c0001t0079g0008 a0001c0001t0091g0331	25	149	0.1678	-40	c.-52 others(49): Show c.-523_-484delCAGGGGCGGGGCCCTGCAGACAGGGGCGGGGCCCTG CAGA	RAB22A	ENSG00000124209.4	transcript	ENST00000244040.4	protein_coding		261		chr20	TogoVar
RAB3D_chr19_11317068_11344657	11341142	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAAAGAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0028 a0001c0001t0012g0028	1	412	0.0024	-40	c.-17 others(51): Show c.-1775_-1736delCTTTTTTCTTTTTTTCTTTTTCTTTTTTTTTTTT TTTTTT	RAB3D	ENSG00000105514.8	transcript	ENST00000222120.8	protein_coding		1486		chr19	TogoVar
RAB3IP_chr12_69733860_69828199	69759940	TGGCCGGG others(33): Show TGGCCGGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02976.hp2 HG02622.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0182 a0001c0001t0082 a0001c0001t0182	a0001c0001t0082g0238 a0001c0001t0182g0239 a0001c0001t0082g0238 a0001c0001t0182g0239	2	400	0.0050	-40	c.510 others(57): Show c.510+3290_510+3329delACGCTCCTCACTTCCCAGACGGGGTGGC GGCCGGGCAGAG	RAB3IP	ENSG00000127328.22	transcript	ENST00000247833.12	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB40B_chr17_82649973_82703698	82664064	GTGGTGGG others(33): Show GTGGTGGGGGGAGGGTGCTCCCCGGGGTGCTGTGCCGATGT	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0043 a0001c0001t0004g0043	1	336	0.0030	-40	c.203 others(55): Show c.203+392_203+431delACATCGGCACAGCACCCCGGGGAGCACCCT CCCCCCACCA	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	2/5			chr17	TogoVar
RAB40B_chr17_82649973_82703698	82664086	CGGGGTGC others(33): Show CGGGGTGCTGTGCCGATGTTGGTGGGGGGAGGGTGCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	336	0.0030	-40	c.203 others(55): Show c.203+370_203+409delAGGGAGCACCCTCCCCCCACCAACATCGGC ACAGCACCCC	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	2/5			chr17	TogoVar
RAB5IF_chr20_36600779_36617557	36609179	ACACACAC others(33): Show ACACACACACACACACGCACACACGCACACACGCACACACG	A A	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	396	0.0025	-40	c.219 others(55): Show c.219-406_219-367delGCACACACGCACACACGCACACACGCACAC ACACACACAC	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB6B_chr3_133819235_133900882	133889388	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA20752.hp2 HG04199.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0072 a0001c0001t0002 a0001c0001t0072	a0001c0001t0002g0105 a0001c0001t0072g0106 a0001c0001t0002g0105 a0001c0001t0072g0106	2	56	0.0357	-40	c.70+ others(55): Show c.70+5969_70+6008delTATATATATATATATATATATATATATATA TATATATATA	RAB6B	ENSG00000154917.11	transcript	ENST00000285208.9	protein_coding	1/7			chr3	TogoVar
RAB7B_chr1_205971740_206008395	205972270	CAAACAAT others(33): Show CAAACAATTATGATGAACTATCGCAGGAGCTATTCATTCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	328	0.0030	-40	c.65 others(51): Show c.6541_*6580delTGGAATGAATAGCTCCTGCGATAGTTCATCATAA TTGTTT	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding		4469		chr1	TogoVar
RAB8B_chr15_63184606_63272776	63247836	ATGAAGCT others(33): Show ATGAAGCTGGGATAACTACTCAACTGCCCTGGAACATAGTG	A A	intron_variant intron_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	370	0.0027	-40	c.186 others(57): Show c.186-1808_186-1769delTGAAGCTGGGATAACTACTCAACTGCCC TGGAACATAGTG	RAB8B	ENSG00000166128.13	transcript	ENST00000321437.9	protein_coding	2/7			chr15	TogoVar
RABEP1_chr17_5277284_5391340	5323741	AATATATA others(33): Show AATATATATATATCTAGGAATATATATATATATCTAGGAAT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01123.hp1 HG01496.hp2 others(14): Show HG01071.hp2 HG01123.hp1 HG01496.hp2 HG01943.hp2 HG01978.hp2 HG01993.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02615.hp2 HG03209.hp2 HG03453.hp1 HG03688.hp1 HG03942.hp2 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0019 a0001c0001t0043 a0001c0001t0045 others(3): Show a0001c0001t0019 a0001c0001t0043 a0001c0001t0045 a0001c0003t0003 a0001c0003t0009 a0001c0003t0013	a0001c0001t0019g0181 a0001c0001t0019g0182 a0001c0001t0043g0180 others(13): Show a0001c0001t0019g0181 a0001c0001t0019g0182 a0001c0001t0043g0180 a0001c0001t0045g0179 a0001c0003t0003g0184 a0001c0003t0003g0212 a0001c0003t0009g0003 a0001c0003t0009g0189 a0001c0003t0009g0202 a0001c0003t0009g0206 a0001c0003t0009g0207 a0001c0003t0009g0209 a0001c0003t0009g0211 a0001c0003t0009g0220 a0001c0003t0009g0221 a0001c0003t0013g0186	17	231	0.0736	-40	c.164 others(57): Show c.164-8107_164-8068delATATATATATATCTAGGAATATATATAT ATATCTAGGAAT	RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
RABGAP1L_chr1_174154520_175000308	174350378	GCGGCCGG others(33): Show GCGGCCGGGCAGAGACGCTCCTCACCTCCCAGACGGGGTCT	G G	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18983.hp2 NA19064.hp1 others(1): Show NA18981.hp2 NA18983.hp2 NA19064.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0058	4	272	0.0147	-40	c.146 others(61): Show c.1466-20587_1466-20548delACGCTCCTCACCTCCCAGACGGGG TCTCGGCCGGGCAGAG	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174572985	TCAGATCC others(33): Show TCAGATCCAGGGATTAATCGACTTTGCCAAAGTCATTTATC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01243.hp1 HG03471.hp2 HG01069.hp1 HG01243.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0154 a0001c0001t0014g0155 a0001c0001t0014g0156 a0001c0001t0014g0154 a0001c0001t0014g0155 a0001c0001t0014g0156	3	272	0.0110	-40	c.171 others(61): Show c.1711-64389_1711-64350delCAGATCCAGGGATTAATCGACTTT GCCAAAGTCATTTATC	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25			chr1	TogoVar
RAD50_chr5_132551977_132651349	132634805	AAAAATTA others(33): Show AAAAATTATTTTTTTCTTTTTAATCTGCTACTATATTAGTT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0241 a0001c0001t0025g0241	1	274	0.0036	-40	c.339 others(59): Show c.3390-2309_3390-2270delAAAATTATTTTTTTCTTTTTAATCTG CTACTATATTAGTT	RAD50	ENSG00000113522.14	transcript	ENST00000378823.8	protein_coding	21/24			chr5	TogoVar
RALGAPA2_chr20_20384530_20717644	20567857	TAATAAAA others(33): Show TAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp1 HG02630.hp1 others(3): Show HG01243.hp1 HG02280.hp1 HG02630.hp1 HG03041.hp1 HG03098.hp2 HG03225.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0005c0012 a0001c0003 a0005c0012	a0001c0003t0002 a0001c0003t0017 a0005c0012t0001 a0001c0003t0002 a0001c0003t0017 a0005c0012t0001	a0001c0003t0002g0078 a0001c0003t0002g0079 a0001c0003t0002g0080 others(3): Show a0001c0003t0002g0078 a0001c0003t0002g0079 a0001c0003t0002g0080 a0001c0003t0002g0083 a0001c0003t0017g0082 a0005c0012t0001g0081	6	16	0.3750	-40	c.315 others(59): Show c.3156+3561_3156+3600delTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATT	RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	23/39			chr20	TogoVar
RANBP3_chr19_5911139_5983140	5961171	CGGTGGCT others(33): Show CGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGA	C C	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA20905.hp2 HG03927.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0140 a0001c0001t0001g0141	2	320	0.0063	-40	c.23- others(55): Show c.23-3238_23-3199delTCGGCCTCCCAAAGTGCTGGGATTACAGGT GTGAGCCACC	RANBP3	ENSG00000031823.14	transcript	ENST00000340578.10	protein_coding	1/16			chr19	TogoVar
RAPGEF1_chr9_131571775_131745076	131586447	CACACACA others(33): Show CACACACACACACACACCTGCAGAGCGAGACTCCGTCTCAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03942.hp1 NA19079.hp2 others(1): Show HG02055.hp1 HG03942.hp1 NA19079.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0231 others(1): Show a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0231 a0001c0003t0001g0184	4	366	0.0109	-40	c.323 others(59): Show c.3233+1249_3233+1288delTTGAGACGGAGTCTCGCTCTGCAGGT GTGTGTGTGTGTGT	RAPGEF1	ENSG00000107263.19	transcript	ENST00000683357.1	protein_coding	22/26			chr9	TogoVar
RAPGEF2_chr4_159098079_159365173	159198271	CTTCTTTC others(33): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA19043.hp2 NA21309.hp2 HG02970.hp1 NA19043.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0021 a0001c0001t0005 a0001c0001t0021	a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0021g0102 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0021g0102	3	24	0.1250	-40	c.197 others(57): Show c.197+5042_197+5081delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	RAPGEF2	ENSG00000109756.10	transcript	ENST00000691494.1	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr4	TogoVar
RARS2_chr6_87508938_87594987	87584965	TCCTTAAG others(33): Show TCCTTAAGTACTATAAACAGTAAATAAAATAGAAATCCTGC	T T	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0177 a0001c0002t0003g0177	1	380	0.0026	-40	c.36+ others(55): Show c.36+4917_36+4956delGCAGGATTTCTATTTTATTTACTGTTTATA GTACTTAAGG	RARS2	ENSG00000146282.19	transcript	ENST00000369536.10	protein_coding	1/19			chr6	TogoVar
RASA2_chr3_141482027_141620344	141610427	ATATATTT others(33): Show ATATATTTATATTTATATATTATATATTTATATTTATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01496.hp2 HG01891.hp2 others(21): Show HG01243.hp2 HG01496.hp2 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03516.hp1 NA18906.hp1 NA19043.hp1 NA20129.hp2 NA20300.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0005 a0002c0004t0001 a0002c0004t0005	a0002c0004t0001g0040 a0002c0004t0001g0041 a0002c0004t0001g0044 others(21): Show a0002c0004t0001g0040 a0002c0004t0001g0041 a0002c0004t0001g0044 a0002c0004t0001g0045 a0002c0004t0001g0062 a0002c0004t0005g0037 a0002c0004t0005g0038 a0002c0004t0005g0039 a0002c0004t0005g0046 a0002c0004t0005g0047 a0002c0004t0005g0048 a0002c0004t0005g0049 a0002c0004t0005g0050 a0002c0004t0005g0051 a0002c0004t0005g0052 a0002c0004t0005g0053 a0002c0004t0005g0054 a0002c0004t0005g0055 a0002c0004t0005g0056 a0002c0004t0005g0057 a0002c0004t0005g0058 a0002c0004t0005g0059 a0002c0004t0005g0060 a0002c0004t0005g0061	24	278	0.0863	-40	c.251 others(57): Show c.2519+367_2519+406delTTATATTTATATATTATATATTTATATT TATATATTATAT	RASA2	ENSG00000155903.14	transcript	ENST00000286364.9	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr3	TogoVar
RASA3_chr13_113972783_114137623	113980428	CGTGTGTG others(33): Show CGTGTGTGCACCTCCTGCCATGTGTGTGCACCTCCACCCAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02738.hp1 HG03209.hp1 others(5): Show HG00639.hp1 HG02738.hp1 HG03209.hp1 HG03209.hp2 HG03540.hp1 HG04115.hp1 HG04228.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0003 a0001c0005t0001 a0001c0001t0001 a0001c0003t0003 a0001c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0015 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0003t0003g0021 a0001c0005t0001g0016 a0001c0005t0001g0017	8	66	0.1212	-40	c.243 others(59): Show c.2430-1046_2430-1007delATGGGTGGAGGTGCACACACATGGCA GGAGGTGCACACAC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	23/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	113999059	GACATGTG others(33): Show GACATGTGGGTCCGGGTCAAGCGTGACCGGGGAACGAGGCC	G G	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp2 HG02257.hp1 others(6): Show HG01993.hp1 HG01993.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG03130.hp1 HG03225.hp2 NA18954.hp2 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0003t0003 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0003 a0002c0004t0004 a0002c0004t0009	a0001c0001t0001g0018 a0001c0001t0004g0066 a0001c0003t0003g0020 others(6): Show a0001c0001t0001g0018 a0001c0001t0004g0066 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0022 a0001c0003t0003g0030 a0002c0004t0004g0001 a0002c0004t0004g0029 a0002c0004t0009g0011	9	66	0.1364	-40	c.193 others(57): Show c.1932+486_1932+525delGGCCTCGTTCCCCGGTCACGCTTGACCC GGACCCACATGT	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	20/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	113999105	TGGGCCCG others(33): Show TGGGCCCGGGTCAAGCGTGACCGGGGAACGAGGCCACACAC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02300.hp1 HG01433.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0006g0012 a0001c0001t0006g0013	2	66	0.0303	-40	c.193 others(57): Show c.1932+440_1932+479delGTGTGTGGCCTCGTTCCCCGGTCACGCT TGACCCGGGCCC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	20/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114120297	TCCAGCCA others(33): Show TCCAGCCAGGCGTCGATCAGGGCCCTCCCTCCTCTCTCCAG	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03540.hp1 HG03209.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0038 a0001c0001t0001g0039	2	66	0.0303	-40	c.55+ others(57): Show c.55+12098_55+12137delCTGGAGAGAGGAGGGAGGGCCCTGATCG ACGCCTGGCTGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASGEF1A_chr10_43189535_43272065	43225285	TTCTGTGT others(33): Show TTCTGTGTGTCTGTGTCTTTGTGTGTGTCTGTGTGTCTGTG	T T	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0199 a0001c0001t0003g0199	1	348	0.0029	-40	c.-6- others(57): Show c.-6-19203_-6-19164delCACAGACACACAGACACACACAAAGACA CAGACACACAGA	RASGEF1A	ENSG00000198915.12	transcript	ENST00000395810.6	protein_coding	1/12			chr10	TogoVar
RASGEF1C_chr5_180095795_180214211	180109886	GTCTCCAG others(33): Show GTCTCCAGAAGTGTATAAGGAAACTCATTTCAGCCCTCTGC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0075 a0001c0003t0075	a0001c0003t0075g0225 a0001c0003t0075g0225	1	368	0.0027	-40	c.130 others(59): Show c.1303+1531_1303+1570delGCAGAGGGCTGAAATGAGTTTCCTTA TACACTTCTGGAGA	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	12/13			chr5	TogoVar
RASGRP1_chr15_38483103_38569814	38542822	TACATATA others(33): Show TACATATATATGTGTATATATATATATGTGTATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01884.hp2 HG01952.hp1 others(28): Show HG00621.hp2 HG01884.hp2 HG01952.hp1 HG02040.hp1 HG02055.hp1 HG02074.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp2 HG02523.hp1 HG02615.hp1 HG02723.hp2 HG03486.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp2 NA18951.hp1 NA18971.hp1 NA18972.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18990.hp1 NA18993.hp2 NA18997.hp2 NA19011.hp2 NA19057.hp1 NA19068.hp2 NA19082.hp1 NA19086.hp2 NA19087.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0005 others(2): Show a0001c0001 a0001c0002 a0002c0005 a0003c0006 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0032 a0001c0002t0006 a0002c0005t0014 a0003c0006t0034 a0004c0011t0001	a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0128 others(27): Show a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0002g0004 a0001c0001t0002g0121 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0222 a0001c0001t0002g0284 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0132 a0001c0001t0004g0118 a0001c0001t0004g0140 a0001c0001t0010g0098 a0001c0001t0013g0091 a0001c0001t0015g0137 a0001c0001t0032g0129 a0001c0002t0006g0133 a0002c0005t0014g0234 a0003c0006t0034g0124 a0004c0011t0001g0143	31	348	0.0891	-40	c.221 others(59): Show c.221-16458_221-16419delGTATATATATACACATATATATATAT ACACATATATATGT	RASGRP1	ENSG00000172575.14	transcript	ENST00000310803.10	protein_coding	2/16			chr15	TogoVar
RB1CC1_chr8_52617458_52719435	52698669	GGTTTTTT others(33): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02615.hp2 HG02622.hp2 others(2): Show HG01069.hp1 HG02615.hp2 HG02622.hp2 HG02976.hp2 HG03486.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0015 a0002c0005t0003 a0002c0005t0015	a0002c0005t0003g0285 a0002c0005t0003g0286 a0002c0005t0003g0287 others(2): Show a0002c0005t0003g0285 a0002c0005t0003g0286 a0002c0005t0003g0287 a0002c0005t0003g0288 a0002c0005t0015g0284	5	8	0.6250	-40	c.-16 others(61): Show c.-166-11742_-166-11703delAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAC	RB1CC1	ENSG00000023287.13	transcript	ENST00000025008.10	protein_coding	1/23			chr8	TogoVar
RBBP5_chr1_205081142_205126978	205093499	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	255	0.0039	-40	c.158 others(59): Show c.1588+1334_1588+1373delGTGTGTATATATATATATATATATAT ATATATATATATAT	RBBP5	ENSG00000117222.14	transcript	ENST00000264515.11	protein_coding	13/13			chr1	TogoVar
RBBP8_chr18_22928328_23031486	22929483	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGAAGAGACAGGCGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02615.hp1 HG02896.hp1 HG02486.hp2 HG02615.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285	3	327	0.0092	-40	c.-41 others(51): Show c.-4179_-4140delGTGTGTGTGTGTGTGTGTGTGTGTGTGAAGAGAC AGGCGG	RBBP8	ENSG00000101773.19	transcript	ENST00000327155.10	protein_coding		3844		chr18	TogoVar
RBBP9_chr20_18481540_18502225	18486133	TATAAAAA others(33): Show TATAAAAATATATATGTAAATATAAATATATATATATGTAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG03195.hp2 NA21309.hp1 HG02257.hp1 HG03195.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0053 a0001c0001t0016g0105 a0001c0001t0001g0053 a0001c0001t0016g0105	3	452	0.0066	-40	c.35 others(51): Show c.3591_*3630delTTACATATATATATATTTATATTTACATATATAT TTTTAT	RBBP9	ENSG00000089050.16	transcript	ENST00000337227.9	protein_coding		406		chr20	TogoVar
RBFOX1_chr16_6014024_7718340	6350444	GAAAAAAA others(33): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02622.hp2 NA20300.hp2 HG01175.hp1 HG02622.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0025 a0001c0001t0037 a0002c0005t0003 a0001c0001t0025 a0001c0001t0037 a0002c0005t0003	a0001c0001t0025g0048 a0001c0001t0037g0029 a0002c0005t0003g0043 a0001c0001t0025g0048 a0001c0001t0037g0029 a0002c0005t0003g0043	3	4	0.7500	-40	c.-64 others(59): Show c.-64+33403_-64+33442delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6657076	CCCTTTCC others(33): Show CCCTTTCCTCTCCTCCCCTTTACTCTCCTCTCCTCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01261.hp1 HG03490.hp2 HG01175.hp1 HG01261.hp1 HG03490.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0002c0005t0003 a0001c0001t0001 a0001c0001t0002 a0002c0005t0003	a0001c0001t0001g0063 a0001c0001t0002g0015 a0002c0005t0003g0043 a0001c0001t0001g0063 a0001c0001t0002g0015 a0002c0005t0003g0043	3	67	0.0448	-40	c.-16 others(57): Show c.-16+2430_-16+2469delTTCCTCTCCTCCCCTTTACTCTCCTCTC CTCCCCTCTCCT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6779861	TTATATAT others(33): Show TTATATATTTATATATATTTATATATATTTATATATATTTA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18522.hp2 HG02622.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0026 a0001c0001t0004 a0001c0001t0026	a0001c0001t0004g0033 a0001c0001t0026g0051 a0001c0001t0004g0033 a0001c0001t0026g0051	2	65	0.0308	-40	c.-16 others(61): Show c.-16+125227_-16+125266delATTTATATATATTTATATATATTT ATATATATTTATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7008808	TCCTCCCT others(33): Show TCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0056 a0001c0001t0031g0056	1	58	0.0172	-40	c.-15 others(59): Show c.-15-43237_-15-43198delCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7008876	TCCTCCCT others(33): Show TCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCACTTCCTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01099.hp1 HG00140.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0026 a0001c0001t0002g0016 a0001c0001t0001g0026 a0001c0001t0002g0016	2	50	0.0400	-40	c.-15 others(59): Show c.-15-43173_-15-43134delCCCTTCCTCCCTCCCTCCCTCCCTCA CTTCCTCCCTCCCT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7008884	CCCTTCCT others(33): Show CCCTTCCTCCCTCCCTCCCTCCCTCACTTCCTCCCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01099.hp2 HG01175.hp2 others(3): Show HG00140.hp2 HG01099.hp2 HG01175.hp2 HG01261.hp1 HG02735.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0032	a0001c0001t0001g0063 a0001c0001t0002g0004 a0001c0001t0002g0017 others(3): Show a0001c0001t0001g0063 a0001c0001t0002g0004 a0001c0001t0002g0017 a0001c0001t0004g0057 a0001c0001t0013g0018 a0001c0001t0032g0068	6	66	0.0909	-40	c.-15 others(59): Show c.-15-43169_-15-43130delTCCTCCCTCCCTCCCTCCCTCACTTC CTCCCTCCCTTCCT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7009094	CTCCCTCC others(33): Show CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03490.hp1 NA20300.hp1 HG01192.hp2 HG03490.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0031 a0001c0001t0002 a0001c0001t0003 a0001c0001t0031	a0001c0001t0002g0017 a0001c0001t0003g0010 a0001c0001t0031g0056 a0001c0001t0002g0017 a0001c0001t0003g0010 a0001c0001t0031g0056	3	68	0.0441	-40	c.-15 others(59): Show c.-15-42948_-15-42909delCCTTCCTCCCTCCCTTCCTCCCTCCA TCCCTCCCTCCCTC	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7504747	ATATATAT others(33): Show ATATATATTTATATATATATATATTTATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	67	0.0149	-40	c.28- others(57): Show c.28-13392_28-13353delTTATATATATATATATTTATATATATAT ATATTTATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7504747	ATATATAT others(33): Show ATATATATTTATATATATATATATTTATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03239.hp2 NA18951.hp1 others(3): Show HG02738.hp2 HG03239.hp2 NA18951.hp1 NA18969.hp2 NA19056.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0001 a0001c0001t0002 a0001c0001t0016	a0001c0001t0001g0100 a0001c0001t0001g0135 a0001c0001t0001g0161 others(3): Show a0001c0001t0001g0100 a0001c0001t0001g0135 a0001c0001t0001g0161 a0001c0001t0001g0179 a0001c0001t0002g0162 a0001c0001t0016g0177	6	225	0.0267	-40	c.88- others(57): Show c.88-13392_88-13353delTTATATATATATATATTTATATATATAT ATATTTATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar

Search by Variant

Search

Search Results