Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

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

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RAB5IF_chr20_36600779_36617557	36609156	T T	TACATACA others(43): Show TACATACACACACACACACACACACACACACACACACACACACACACACA C	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	398	0.0025	50	c.219 others(65): Show c.219-442_219-441insTACACACACACACACACACACACACACACA CACACACACACACACACACA	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACATACA others(43): Show TACATACATACACACACACACACACACACACACACACACACACACACACA C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	398	0.0025	50	c.219 others(65): Show c.219-442_219-441insTACATACACACACACACACACACACACACA CACACACACACACACACACA	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACATACA others(43): Show TACATACATACATATACACACACACACACACACACACACACACACACACA C	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	398	0.0025	50	c.219 others(65): Show c.219-442_219-441insTACATACATATACACACACACACACACACA CACACACACACACACACACA	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB6A_chr11_73670638_73766074	73685588	G G	GAAAGTCT others(43): Show GAAAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	354	0.0028	50	c.496 others(67): Show c.496-5869_496-5868insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAGACTTT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	6/7			chr11	TogoVar
RABEP2_chr16_28899421_28930238	28929893	T T	TATATATA others(43): Show TATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	366	0.0027	50	c.-47 others(61): Show c.-4731_-4730insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTATATATATATAT	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding		4656		chr16	TogoVar
RABGAP1L_chr1_174154520_175000308	174416035	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATATACACATATA C	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA21309.hp1 HG03471.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0140 a0001c0001t0005g0141 a0001c0001t0005g0140 a0001c0001t0005g0141	2	272	0.0074	50	c.171 others(71): Show c.1710+21891_1710+21892insTATATATATATATATATATATATA TATATATATATATATACACATATACA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174833449	G G	GATATATA others(43): Show GATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA18957.hp1 NA18983.hp1 others(1): Show HG00323.hp2 NA18957.hp1 NA18983.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0118 a0001c0001t0002g0123 others(1): Show a0001c0001t0002g0086 a0001c0001t0002g0118 a0001c0001t0002g0123 a0001c0001t0002g0125	4	272	0.0147	50	c.234 others(71): Show c.2340+21508_2340+21509insTATATATATATATATATATATATA TATATATATATATATATATATATATA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174833466	A A	ATATATAT others(43): Show ATATATATATATATATATATAATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	272	0.0037	50	c.234 others(71): Show c.2340+21508_2340+21509insTATATATATATATATATAATATAT ATATATATATATATATATATATATTA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174937619	A A	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	272	0.0037	50	c.234 others(71): Show c.2341-19822_2341-19821insATATATATATATATATATATATAT ATATATATATATATATATATATATAT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAD17_chr5_69364818_69419801	69377600	T T	TATATATG others(43): Show TATATATGTATACATATATATATGCATATATATGTATACATATATATATG C	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	359	0.0028	50	c.351 others(67): Show c.351+2895_351+2896insGTATACATATATATATGCATATATATGT ATACATATATATATGCATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RADIL_chr7_4792055_4888716	4808910	C C	CCCCCCCA others(43): Show CCCCCCCACGTCTCCTTCCAACGCCACTGCCCCCCGTTCCGACGCCACTG T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02647.hp2 HG02257.hp2 HG02647.hp2	a0011 a0011	a0011c0022 a0011c0043 a0011c0022 a0011c0043	a0011c0022t0053 a0011c0043t0046 a0011c0022t0053 a0011c0043t0046	a0011c0022t0053g0159 a0011c0043t0046g0136 a0011c0022t0053g0159 a0011c0043t0046g0136	2	292	0.0069	50	c.214 others(69): Show c.2140-3195_2140-3194insACAGTGGCGTCGGAACGGGGGGCAGT GGCGTTGGAAGGAGACGTGGGGGG	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	9/14			chr7	TogoVar
RADIL_chr7_4792055_4888716	4886287	T T	TATATATG others(43): Show TATATATGTGTATATATATATATATATATATATATATATATATATATATA C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0067 a0001c0067	a0001c0067t0042 a0001c0067t0042	a0001c0067t0042g0135 a0001c0067t0042g0135	1	292	0.0034	50	c.-27 others(61): Show c.-2757_-2756insGTATATATATATATATATATATATATATATATAT ATATATACACATATAT	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding		2572		chr7	TogoVar
RAE1_chr20_57346255_57384202	57350855	G G	GACGGGGG others(43): Show GACGGGGGACGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGACGGGGGG C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	342	0.0029	50	c.-57 others(59): Show c.-575_-574insACGGGGGACGGGGGGCGGGGGGGGCGGGGGGGGCGG GGGGGACGGGGGGC	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		399		chr20	TogoVar
RAE1_chr20_57346255_57384202	57350857	C C	CGGGGGGC others(43): Show CGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGACGGGGGGCGGGGGGGC G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	342	0.0029	50	c.-57 others(59): Show c.-573_-572insGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGACGG GGGGCGGGGGGGCG	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		397		chr20	TogoVar
RAI14_chr5_34651328_34837612	34665007	A A	ATATATAT others(43): Show ATATATATGTGTATATATATATGTGTATATATATATGTGTATATATATGT G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0002 a0005c0012t0002	a0005c0012t0002g0066 a0005c0012t0002g0066	1	254	0.0039	50	c.-49 others(67): Show c.-49+8539_-49+8540insGTGTATATATATATGTGTATATATATAT GTGTATATATATGTGTATATAT	RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RALGAPA2_chr20_20384530_20717644	20642149	G G	GAGGGGAG others(43): Show GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAG A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0081 a0001c0003t0002g0081	1	122	0.0082	50	c.373 others(67): Show c.373-1272_373-1271insTCTCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCT	RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	5/39			chr20	TogoVar
RALYL_chr8_84178274_84926844	84342277	A A	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp2 HG01168.hp1 others(2): Show HG01071.hp1 HG01071.hp2 HG01168.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0003g0060 others(2): Show a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0007g0036	5	82	0.0610	50	c.-24 others(71): Show c.-24+157872_-24+157873insTATATATATATATATATATATATA TATATATATATATATATATATATATA	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RALYL_chr8_84178274_84926844	84342295	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATATATATATATA A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	82	0.0122	50	c.-24 others(71): Show c.-24+157872_-24+157873insTATATATATATATATATATATATA TATATATATATATATATATATATAAA	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RALYL_chr8_84178274_84926844	84535602	A A	ATTATTTT others(43): Show ATTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0019 a0001c0001t0013g0019	1	82	0.0122	50	c.256 others(67): Show c.256+6067_256+6068insATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTT	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAP1GAP_chr1_21591221_21674357	21660339	C C	CCATATAT others(43): Show CCATATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0179 a0001c0003t0003g0179	1	372	0.0027	50	c.-14 others(69): Show c.-149+8914_-149+8915insTATATATATATATATATATATATATA TATATATATATATATATATATATG	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660339	C C	CTATATAT others(43): Show CTATATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0354 a0001c0003t0004g0354	1	372	0.0027	50	c.-14 others(69): Show c.-149+8914_-149+8915insTATATATATATATATATATATATATA TATATATATATATATATATATATA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660339	C C	CTATTTAT others(43): Show CTATTTATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0356 a0002c0001t0001g0356	1	372	0.0027	50	c.-14 others(69): Show c.-149+8914_-149+8915insTATATATATATATATATATATATATA TATATATATATATATATATAAATA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660345	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT T	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0364 a0001c0004t0001g0364	1	372	0.0027	50	c.-14 others(69): Show c.-149+8908_-149+8909insAATATATATATATATATATATATATA TATATATATATATATATATATATA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660345	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATATTTAT T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18942.hp2 NA18522.hp1 NA18942.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0172 a0002c0001t0001g0036 a0001c0002t0001g0172 a0002c0001t0001g0036	2	372	0.0054	50	c.-14 others(69): Show c.-149+8908_-149+8909insAATAAATATATATATATATATATATA TATATATATATATATATATATATA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660352	T T	TATATATA others(43): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA19066.hp2 NA18941.hp2 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0203 a0002c0001t0001g0295 a0001c0002t0001g0203 a0002c0001t0001g0295	2	372	0.0054	50	c.-14 others(69): Show c.-149+8901_-149+8902insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTATATATATAT	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660352	T T	TATATATA others(43): Show TATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02135.hp1 NA19085.hp2 HG00621.hp2 HG02135.hp1 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0168 a0001c0004t0001g0197 a0001c0004t0001g0198 a0001c0002t0001g0168 a0001c0004t0001g0197 a0001c0004t0001g0198	3	372	0.0081	50	c.-14 others(69): Show c.-149+8901_-149+8902insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTATATATATATAT	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660352	T T	TATATATA others(43): Show TATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0167 a0001c0002t0001g0167	1	372	0.0027	50	c.-14 others(69): Show c.-149+8901_-149+8902insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTATATATATATATAT	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660352	T T	TATATATA others(43): Show TATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02071.hp2 NA18953.hp1 HG02015.hp1 HG02071.hp2 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193	3	372	0.0081	50	c.-14 others(69): Show c.-149+8901_-149+8902insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTATATATATATATATATAT	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660701	T T	TCTTAGCT others(43): Show TCTTAGCTCACAGAGTGATGGCGTGTTAAACAAGGTGATGCACACAGACA C	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0294 a0002c0005t0001g0294	1	372	0.0027	50	c.-14 others(69): Show c.-149+8503_-149+8552dupGTGTCTGTGTGCATCACCTTGTTTAA CACGCCATCACTCTGTGAGCTAAG	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RASA3_chr13_113972783_114137623	114044388	C C	CCGCCCCG others(43): Show CCGCCCCGCCTCACTCGCTGAGCCCCCCCCCGCCCCGCCTCACTCGCTGA G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0016 a0001c0005t0001g0016	1	67	0.0149	50	c.278 others(67): Show c.278-3295_278-3294insCTCAGCGAGTGAGGCGGGGCGGGGGGGG GCTCAGCGAGTGAGGCGGGGCG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASGEF1B_chr4_81421393_81476907	81466770	A A	AAAAAAGA others(43): Show AAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	316	0.0032	50	c.-7+ others(65): Show c.-7+4999_-7+5000insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTTT	RASGEF1B	ENSG00000138670.19	transcript	ENST00000264400.7	protein_coding	1/13			chr4	TogoVar
RASGRF1_chr15_78954906_79095780	79059372	T T	TCCTTCCC others(43): Show TCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0309 a0001c0002t0003g0309	1	314	0.0032	50	c.384 others(65): Show c.384-941_384-892dupGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGG	RASGRF1	ENSG00000058335.16	transcript	ENST00000558480.7	protein_coding	2/26			chr15	TogoVar
RASGRF2_chr5_80955363_81235162	80992183	T T	TACACACA others(43): Show TACACACACACACACATACACACACATACACACACACACACACACACACA C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03130.hp1 HG03195.hp2 others(3): Show HG02647.hp1 HG03130.hp1 HG03195.hp2 HG03453.hp2 HG03486.hp1 HG03516.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0003c0016	a0001c0001t0036 a0001c0002t0003 a0001c0004t0004 others(2): Show a0001c0001t0036 a0001c0002t0003 a0001c0004t0004 a0001c0004t0058 a0003c0016t0057	a0001c0001t0036g0270 a0001c0002t0003g0038 a0001c0004t0004g0005 others(3): Show a0001c0001t0036g0270 a0001c0002t0003g0038 a0001c0004t0004g0005 a0001c0004t0004g0008 a0001c0004t0058g0007 a0003c0016t0057g0029	6	276	0.0217	50	c.288 others(69): Show c.288+31172_288+31173insTACACACACATACACACACACACACA CACACACACACACACACACACACA	RASGRF2	ENSG00000113319.13	transcript	ENST00000265080.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASSF3_chr12_64605495_64702564	64660006	G G	GTATATAT others(43): Show GTATATATATATGTGTGTGTGTGTATGTGTATATATATGTGTGTATGTAT A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01256.hp1 HG02683.hp2 others(5): Show HG00323.hp1 HG01256.hp1 HG02683.hp2 HG04204.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0055 a0001c0001t0057 others(1): Show a0001c0001t0013 a0001c0001t0055 a0001c0001t0057 a0001c0001t0058	a0001c0001t0013g0148 a0001c0001t0013g0154 a0001c0001t0013g0161 others(5): Show a0001c0001t0013g0148 a0001c0001t0013g0154 a0001c0001t0013g0161 a0001c0001t0013g0168 a0001c0001t0013g0171 a0001c0001t0055g0176 a0001c0001t0057g0177 a0001c0001t0058g0151	8	370	0.0216	50	c.112 others(69): Show c.112-24772_112-24771insATGTGTGTGTGTGTATGTGTATATAT ATGTGTGTATGTATATATATATAT	RASSF3	ENSG00000153179.14	transcript	ENST00000542104.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
RASSF5_chr1_206502531_206594448	206524558	A A	AATATATT others(43): Show AATATATTATGTATAATATATAAAATATATATTATGTATAATATATAAAA T	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	346	0.0029	50	c.458 others(69): Show c.458-13580_458-13579insGTATAATATATAAAATATATATTATG TATAATATATAAAATATATATTAT	RASSF5	ENSG00000266094.8	transcript	ENST00000579436.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	306	0.0033	50	c.-35 others(61): Show c.-3577_-3576insTATATATATATATATATATATATATTTTTTTTTT TTTTTTTTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RBBP8_chr18_22928328_23031486	23022602	A A	AAAAATAA others(43): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	330	0.0030	50	c.259 others(67): Show c.2596+370_2596+371insATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAA	RBBP8	ENSG00000101773.19	transcript	ENST00000327155.10	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr18	TogoVar
RBBP8_chr18_22928328_23031486	23022663	T T	TAAAATAA others(43): Show TAAAATAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAAAAATA A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	330	0.0030	50	c.259 others(67): Show c.2596+404_2596+405insAATAAAATAAAATAAAATAAAATAAAAT AAAAAAAATAAAAAATAAATAA	RBBP8	ENSG00000101773.19	transcript	ENST00000327155.10	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr18	TogoVar
RBBP8_chr18_22928328_23031486	23022663	T T	TAAATAAA others(43): Show TAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAAAAATA A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG01074.hp1 others(23): Show HG00408.hp1 HG00558.hp1 HG01074.hp1 HG01934.hp1 HG01943.hp2 HG01993.hp2 HG02015.hp1 HG02056.hp2 HG02735.hp2 HG03491.hp1 HG03927.hp1 HG04199.hp2 NA18747.hp2 NA18939.hp2 NA18943.hp2 NA18961.hp1 NA18963.hp2 NA19004.hp2 NA19010.hp2 NA19060.hp1 NA19067.hp1 NA19074.hp1 NA19078.hp2 NA19083.hp1 NA19088.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0024 a0001c0001t0001g0194 a0001c0001t0001g0196 others(23): Show a0001c0001t0001g0024 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0293 a0001c0001t0002g0316	26	330	0.0788	50	c.259 others(67): Show c.2596+396_2596+397insTAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAAAAAATAAAAA	RBBP8	ENSG00000101773.19	transcript	ENST00000327155.10	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr18	TogoVar
RBFOX1_chr16_6014024_7718340	6256175	A A	ATATATGT others(43): Show ATATATGTATATATATGTATATATATACGTATATATATGTATATGTATAC G	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0034 a0002c0003t0034	a0002c0003t0034g0061 a0002c0003t0034g0061	1	68	0.0147	50	c.-12 others(71): Show c.-126-60815_-126-60814insGTATATATATGTATATATATACGT ATATATATGTATATGTATACGTATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6256179	A A	ATGTATAT others(43): Show ATGTATATATATGTATATATGTATATATATATACGTATATATATGTATAT G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	68	0.0147	50	c.-12 others(71): Show c.-126-60815_-126-60814insGTATATATATGTATATATGTATAT ATATATACGTATATATATGTATATGT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6256211	G G	GTATATAT others(43): Show GTATATATATGTATATATATATGTATATATATATGTATATATATATGTGT A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0064 a0001c0001t0040g0064	1	68	0.0147	50	c.-12 others(71): Show c.-126-60761_-126-60760insATATATATATGTATATATATATGT GTATATATATATGTATATATATATGT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6450812	T T	TACATATA others(43): Show TACATATATATATATACATATATATATATATACATATATATATGTATATA C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01261.hp1 HG03098.hp1 HG00280.hp2 HG01261.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0025 a0001c0001t0001g0063 a0001c0001t0004g0040 a0001c0001t0001g0025 a0001c0001t0001g0063 a0001c0001t0004g0040	3	68	0.0441	50	c.-64 others(71): Show c.-64+133756_-64+133757insCATATATATATATACATATATATA TATATACATATATATATGTATATACA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6637430	T T	TATATTAT others(43): Show TATATTATATAATATATAAATATATATATTATATAATATATAAATATATT A	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA20300.hp1 NA18994.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0034 a0001c0001t0002 a0002c0003t0034	a0001c0001t0002g0017 a0002c0003t0034g0061 a0001c0001t0002g0017 a0002c0003t0034g0061	2	68	0.0294	50	c.-63 others(69): Show c.-63-17173_-63-17172insATATTATATAATATATAAATATATAT ATTATATAATATATAAATATATTA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15			chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6656931	C C	CCCTCTCC others(43): Show CCCTCTCCTCTCCTCCCCTCTCCTCCCCTTTCCTCTCCTCCCCTTTCCTC T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01261.hp2 HG02559.hp1 others(7): Show HG00741.hp2 HG01261.hp2 HG02559.hp1 HG02622.hp1 HG02735.hp1 HG02976.hp1 HG03471.hp1 HG03579.hp2 HG03831.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0016 a0001c0001t0042 a0001c0002t0028	a0001c0001t0001g0020 a0001c0001t0001g0053 a0001c0001t0002g0005 others(7): Show a0001c0001t0001g0020 a0001c0001t0001g0053 a0001c0001t0002g0005 a0001c0001t0003g0006 a0001c0001t0004g0033 a0001c0001t0004g0057 a0001c0001t0005g0058 a0001c0001t0016g0011 a0001c0001t0042g0022 a0001c0002t0028g0031	10	68	0.1471	50	c.-16 others(67): Show c.-16+2290_-16+2291insTCCTCCCCTCTCCTCCCCTTTCCTCTCC TCCCCTTTCCTCTCCTCTCCTC	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7225905	A A	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0009 a0001c0001t0022g0009	1	68	0.0147	50	c.27+ others(69): Show c.27+173822_27+173823insTATATATATATATATATATATATATA TATATATATATATATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79512629	A A	ATGTTACC others(43): Show ATGTTACCATCGGGTACGGCCCCATGGCCAGGGGACACCCACCCGGATAC G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01175.hp2 HG02004.hp2 others(5): Show HG00642.hp1 HG01175.hp2 HG02004.hp2 HG02129.hp2 HG02155.hp2 HG02683.hp2 HG03492.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0020 a0001c0001t0024 a0001c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0003g0033 others(5): Show a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0003g0033 a0001c0001t0003g0046 a0001c0001t0007g0001 a0001c0001t0020g0030 a0001c0001t0024g0149 a0001c0002t0001g0045	8	154	0.0520	50	c.-31 others(71): Show c.-319-30081_-319-30032dupCGTATCCGGGTGGGTGTCCCCTGG CCATGGGGCCGTACCCGATGGTAACA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611174	C C	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTCTCCGCCCTCCTTCTCTCTCTCTCTCTCTCTC T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0095 a0001c0001t0004g0095	1	154	0.0065	50	c.-66 others(59): Show c.-669_-668insAGAGAGAGAGAGAGAGAGAGAAGGAGGGCGGAGAGA GAGAGAGAGAGAGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		124		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611174	C C	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCCGCCCTCCTTCTCTCTCTCTCTC T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	154	0.0065	50	c.-66 others(59): Show c.-669_-668insAGAGAGAGAGAGAGAAGGAGGGCGGAGAGAGAGAGA GAGAGAGAGAGAGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		124		chr17	TogoVar
RBKS_chr2_27776379_27895387	27789949	G G	GTATATAT others(43): Show GTATATATATATATATATATATATATATATGTATATGTGTATATATATAT A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	268	0.0037	50	c.796 others(67): Show c.796-8162_796-8161insTATATATATATACACATATACATATATA TATATATATATATATATATATA	RBKS	ENSG00000171174.15	transcript	ENST00000302188.8	protein_coding	7/7			chr2	TogoVar

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