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 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
RARA_chr17_40304180_40362643	40315100	G G	GTATATAT others(39): Show GTATATATATATATATATATATATATATGCTTATATGTATATGTATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0227 a0001c0001t0006g0227	1	286	0.0035	46	c.-36 others(65): Show c.-363+5835_-363+5836insATATATGCTTATATGTATATGTATAT ATATATATATATATATATAT	RARA	ENSG00000131759.18	transcript	ENST00000254066.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
RARA_chr17_40304180_40362643	40315100	G G	GTATATAT others(39): Show GTATATATATATATATATATATATATATGCTTATATGTATATGTGTA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0228 a0001c0001t0006g0228	1	286	0.0035	46	c.-36 others(65): Show c.-363+5835_-363+5836insATATATGCTTATATGTATATGTGTAT ATATATATATATATATATAT	RARA	ENSG00000131759.18	transcript	ENST00000254066.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
RASA3_chr13_113972783_114137623	114044438	G G	GCCTCACT others(39): Show GCCTCACTCGCTGAGCTCCCCCCCCCGCCTCACTCGCTGAGCTCCCC	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA18954.hp1 HG01175.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0049 a0001c0001t0001g0054	2	67	0.0299	46	c.278 others(63): Show c.278-3345_278-3344insGGGGAGCTCAGCGAGTGAGGCGGGGGGG GGAGCTCAGCGAGTGAGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114052734	T T	TCCCCGCT others(39): Show TCCCCGCTGCTGACTGTGCTTAGAGTCCTGGCTCCTGGGGGAGAGAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	67	0.0149	46	c.174 others(61): Show c.174-625_174-580dupGTCTCTCCCCCAGGAGCCAGGACTCTAAGC ACAGTCAGCAGCGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114052831	A A	ACTGCTGA others(39): Show ACTGCTGACTGTACTTAGAGTCCTCGCTCCTGGGGGAGAGGCCCCCG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	67	0.0149	46	c.174 others(61): Show c.174-677_174-676insCGGGGGCCTCTCCCCCAGGAGCGAGGACTC TAAGTACAGTCAGCAG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114052877	G G	GCTGCTGA others(39): Show GCTGCTGACTGTACTTAGAGTCCTCGCTCCTGGGGGAGAAATCGCCA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03540.hp1 HG03209.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0038 a0001c0001t0001g0039	2	67	0.0299	46	c.174 others(61): Show c.174-723_174-722insTGGCGATTTCTCCCCCAGGAGCGAGGACTC TAAGTACAGTCAGCAG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114052935	A A	ACTTAGAG others(39): Show ACTTAGAGTCCTCGCTCCTGGGGGAGAAATCCCCACTGCTGACTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	67	0.0149	46	c.174 others(61): Show c.174-781_174-780insCACAGTCAGCAGTGGGGATTTCTCCCCCAG GAGCGAGGACTCTAAG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114122743	C C	CGGTCGGC others(39): Show CGGTCGGCCCCGAGTGAGGGACGCAGCTAGGAAGGGGGTCTCCGGCA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02257.hp1 HG02723.hp1 others(1): Show HG01361.hp1 HG02257.hp1 HG02723.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0009 a0001c0001t0001 a0002c0004t0009	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0065 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0065 a0002c0004t0009g0010	4	67	0.0597	46	c.55+ others(61): Show c.55+9646_55+9691dupTGCCGGAGACCCCCTTCCTAGCTGCGTCCC TCACTCGGGGCCGACC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASGRF2_chr5_80955363_81235162	80992183	T T	TACACACA others(39): Show TACACACACACACACATACACACACATACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00741.hp2 others(21): Show HG00408.hp1 HG00544.hp2 HG00741.hp2 HG01981.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02273.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG03139.hp2 HG03471.hp1 HG03540.hp2 HG03927.hp1 HG04228.hp2 HG06807.hp1 NA18944.hp1 NA18952.hp1 NA19081.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0002c0005 a0006c0020	a0001c0001t0003 a0001c0001t0011 a0001c0001t0013 others(16): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0013 a0001c0001t0022 a0001c0001t0051 a0001c0002t0003 a0001c0002t0004 a0001c0002t0011 a0001c0002t0033 a0001c0002t0055 a0001c0003t0001 a0001c0003t0005 a0001c0003t0008 a0001c0003t0019 a0001c0007t0014 a0002c0005t0002 a0002c0005t0016 a0002c0005t0047 a0006c0020t0001	a0001c0001t0003g0110 a0001c0001t0011g0122 a0001c0001t0013g0109 others(21): Show a0001c0001t0003g0110 a0001c0001t0011g0122 a0001c0001t0013g0109 a0001c0001t0022g0111 a0001c0001t0051g0174 a0001c0002t0003g0112 a0001c0002t0003g0114 a0001c0002t0003g0121 a0001c0002t0004g0006 a0001c0002t0011g0116 a0001c0002t0011g0275 a0001c0002t0033g0267 a0001c0002t0055g0160 a0001c0003t0001g0001 a0001c0003t0001g0003 a0001c0003t0005g0268 a0001c0003t0008g0253 a0001c0003t0008g0261 a0001c0003t0019g0260 a0001c0007t0014g0259 a0002c0005t0002g0159 a0002c0005t0016g0166 a0002c0005t0047g0123 a0006c0020t0001g0266	24	276	0.0870	46	c.288 others(65): Show c.288+31172_288+31173insTACACACACATACACACACACACACA CACACACACACACACACACA	RASGRF2	ENSG00000113319.13	transcript	ENST00000265080.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
RBBP8_chr18_22928328_23031486	23022663	T T	TAAAATAA others(39): Show TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAAAAATAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	330	0.0030	46	c.259 others(63): Show c.2596+401_2596+402insATAAAATAAAATAAAATAAAATAAAATA AAAAAAATAAAAAATAAA	RBBP8	ENSG00000101773.19	transcript	ENST00000327155.10	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr18	TogoVar
RBFOX1_chr16_6014024_7718340	6779973	T T	TTATATAT others(39): Show TTATATATTTATATGTATTTATATATATTTATATATTTATATATTTA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03490.hp1 HG03831.hp2 others(3): Show HG03453.hp2 HG03490.hp1 HG03831.hp2 NA18994.hp1 NA19043.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0015 a0001c0001t0031 a0002c0003t0034	a0001c0001t0001g0028 a0001c0001t0005g0058 a0001c0001t0010g0037 others(3): Show a0001c0001t0001g0028 a0001c0001t0005g0058 a0001c0001t0010g0037 a0001c0001t0015g0045 a0001c0001t0031g0056 a0002c0003t0034g0061	6	68	0.0882	46	c.-16 others(67): Show c.-16+125336_-16+125337insGTATTTATATATATTTATATATTT ATATATTTATATATATTTATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6780121	A A	ATATATAT others(39): Show ATATATATTTATATATTTATTTATATTTATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp2 HG02735.hp1 others(2): Show HG02451.hp1 HG02559.hp2 HG02735.hp1 HG03139.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 others(2): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0029 a0001c0001t0041	a0001c0001t0004g0057 a0001c0001t0006g0038 a0001c0001t0012g0054 others(2): Show a0001c0001t0004g0057 a0001c0001t0006g0038 a0001c0001t0012g0054 a0001c0001t0029g0001 a0001c0001t0041g0021	5	68	0.0735	46	c.-16 others(67): Show c.-16+125478_-16+125479insTTATATATTTATTTATATTTATAT ATATTTATATATATTTATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6806817	A A	AATATATA others(39): Show AATATATAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0031 a0001c0002t0028g0031	1	68	0.0147	46	c.-16 others(67): Show c.-16+152174_-16+152175insAATATATATATATATATATATATA TATATATATATATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7225905	A A	AATAAATA others(39): Show AATAAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0027 a0001c0001t0033g0027	1	68	0.0147	46	c.27+ others(65): Show c.27+173810_27+173811insAATATATATATATATATATATATATA TATATATATATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79611169	T T	TCTCTCTC others(39): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	154	0.0065	46	c.-66 others(55): Show c.-664_-663insCGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		119		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611174	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCCGCCCTCCTTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0126 a0001c0002t0004g0126	1	154	0.0065	46	c.-66 others(55): Show c.-669_-668insAGAGAGAGAGAGAGAGAGAAGGAGGGCGGAGAGAGA GAGAGAGAGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		124		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611174	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTCCGCCCTCCTTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0111 a0001c0001t0027g0111	1	154	0.0065	46	c.-66 others(55): Show c.-669_-668insAGAGAGAGAGAGAGAGAAGGAGGGCGGAGAGAGAGA GAGAGAGAGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		124		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611174	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTCTCCGCCCTCCTTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0106 a0001c0001t0026g0106	1	154	0.0065	46	c.-66 others(55): Show c.-669_-668insAGAGAGAGAGAGAGAAGGAGGGCGGAGAGAGAGAGA GAGAGAGAGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		124		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611174	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTCTCTCCGCCCTCCTTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG03041.hp2 HG01255.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0097 a0001c0001t0008g0117 a0001c0001t0004g0097 a0001c0001t0008g0117	2	154	0.0130	46	c.-66 others(55): Show c.-669_-668insAGAGAGAGAGAGAAGGAGGGCGGAGAGAGAGAGAGA GAGAGAGAGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		124		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611174	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCGCCCTCCTTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0127 a0001c0001t0023g0127	1	154	0.0065	46	c.-66 others(55): Show c.-669_-668insAGAGAGAAGGAGGGCGGAGAGAGAGAGAGAGAGAGA GAGAGAGAGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		124		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611183	T T	TTCTCTCT others(39): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	154	0.0065	46	c.-67 others(55): Show c.-678_-677insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		133		chr17	TogoVar
RBM19_chr12_113817057_113971325	113879446	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19064.hp2 NA19005.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0092 a0001c0001t0002g0114 a0001c0001t0001g0092 a0001c0001t0002g0114	2	356	0.0056	46	c.255 others(67): Show c.2559-20551_2559-20550insGTATATATATATATATATATATAT ATATATATATATATATATATAT	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	21/23			chr12	TogoVar
RBM26_chr13_79313868_79411255	79375081	T T	TATATAAA others(39): Show TATATAAATATATATTTATATATCATATAAATATATATTTATATATC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0145 a0001c0001t0004g0145	1	328	0.0031	46	c.327 others(63): Show c.327+2297_327+2298insGATATATAAATATATATTTATATGATAT ATAAATATATATTTATAT	RBM26	ENSG00000139746.16	transcript	ENST00000438737.3	protein_coding	3/21			chr13	TogoVar
RBM42_chr19_35624036_35642685	35638908	C C	CAAAAAAA others(39): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	46	c.13 others(57): Show c.1354_*1355insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	RBM42	ENSG00000126254.12	transcript	ENST00000262633.9	protein_coding		1224		chr19	TogoVar
RBPJ_chr4_26316014_26439923	26316511	A A	ATATATAT others(39): Show ATATATATATTCATATATATTCATATATATTCATATATATATTCATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18988.hp1 NA18964.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0248 a0001c0001t0002g0249	2	316	0.0063	46	c.-45 others(57): Show c.-4518_-4517insTATATATATTCATATATATTCATATATATTCATA TATATATTCATG	RBPJ	ENSG00000168214.22	transcript	ENST00000355476.8	protein_coding		4502		chr4	TogoVar
RCAN2_chr6_46215736_46496449	46367022	G G	GATATATA others(39): Show GATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	158	0.0063	46	c.225 others(65): Show c.225+89729_225+89730insATATATATATATATATATATATATAT ATATATATATATATATATAT	RCAN2	ENSG00000172348.16	transcript	ENST00000371374.6	protein_coding	2/4			chr6	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	AAAAAAAA others(39): Show AAAAAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0152 a0001c0002t0002g0152	1	390	0.0026	46	c.286 others(63): Show c.286-2161_286-2160insATATATATATATATATATATATATATAT ATATATATATATTTTTTT	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	AAAAAATA others(39): Show AAAAAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0130 a0001c0002t0002g0130	1	390	0.0026	46	c.286 others(63): Show c.286-2161_286-2160insATATATATATATATATATATATATATAT ATATATATATATATTTTT	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCHY1_chr4_75474033_75519403	75487786	T T	TATATATT others(39): Show TATATATTCATATATATATTCATAATATATATTCATATATATTCATA	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	406	0.0025	46	c.657 others(63): Show c.657+2794_657+2795insTATGAATATATATGAATATATATTATGA ATATATATATGAATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCVRN_chr17_9891320_9910271	9908500	G G	GATGCTGA others(39): Show GATGCTGAGAGTGAGGGGTCATGACCTGGAGGTTTGTTTGAAAATCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	480	0.0021	46	c.-33 others(57): Show c.-3321_-3320insAGATTTTCAAACAAACCTCCAGGTCATGACCCCT CACTCTCAGCAT	RCVRN	ENSG00000109047.8	transcript	ENST00000226193.6	protein_coding		3230		chr17	TogoVar
RERE_chr1_8347404_8822640	8741735	T T	TTTATAAA others(39): Show TTTATAAATTTCCTTTATAAATTACCCTTTATAAATTTCCTTTATAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	204	0.0049	46	c.-14 others(67): Show c.-145+75424_-145+75425insTTATAAAGGAAATTTATAAAGGGT AATTTATAAAGGAAATTTATAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
REST_chr4_56902900_56940844	56905347	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00673.hp1 HG01169.hp2 others(27): Show HG00597.hp2 HG00673.hp1 HG01169.hp2 HG01258.hp2 HG01496.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG02071.hp2 HG02074.hp1 HG02129.hp1 HG02148.hp1 HG02698.hp1 HG03471.hp1 HG03486.hp2 HG03579.hp1 HG03654.hp2 HG04228.hp2 HG06807.hp2 NA18946.hp2 NA18950.hp2 NA18968.hp2 NA18979.hp2 NA18984.hp1 NA18984.hp2 NA18995.hp1 NA18995.hp2 NA19012.hp1 NA19090.hp1 NA19090.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0002c0022 others(2): Show a0001c0001 a0002c0002 a0002c0022 a0003c0003 a0006c0010	a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 others(6): Show a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0002c0002t0007 a0002c0002t0024 a0002c0002t0030 a0002c0022t0001 a0003c0003t0002 a0006c0010t0004	a0001c0001t0002g0106 a0001c0001t0004g0015 a0002c0002t0001g0010 others(25): Show a0001c0001t0002g0106 a0001c0001t0004g0015 a0002c0002t0001g0010 a0002c0002t0001g0012 a0002c0002t0001g0023 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0230 a0002c0002t0001g0245 a0002c0002t0001g0262 a0002c0002t0001g0266 a0002c0002t0001g0281 a0002c0002t0001g0285 a0002c0002t0001g0305 a0002c0002t0007g0048 a0002c0002t0024g0241 a0002c0002t0030g0225 a0002c0022t0001g0022 a0003c0003t0002g0006 a0003c0003t0002g0008 a0003c0003t0002g0026 a0003c0003t0002g0111 a0003c0003t0002g0118 a0003c0003t0002g0131 a0003c0003t0002g0137 a0003c0003t0002g0138 a0003c0003t0002g0139 a0006c0010t0004g0005	30	408	0.0735	46	c.-28 others(57): Show c.-2876_-2875insATATATATATATATATATATATATATATATATAT ATATATATATAA	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2552		chr4	TogoVar
REST_chr4_56902900_56940844	56905348	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 NA18994.hp1 HG01175.hp1 NA18994.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0040 a0004c0004t0005g0207 a0004c0004t0005g0040 a0004c0004t0005g0207	2	408	0.0049	46	c.-28 others(57): Show c.-2875_-2874insTATATATATATATATATATATATATATATATATA TATATATATATG	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2551		chr4	TogoVar
RFLNA_chr12_124290093_124321024	124296072	T T	TTTTCTTT others(39): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0062	1	388	0.0026	46	c.207 others(61): Show c.207+471_207+472insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296124	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02056.hp2 HG02132.hp1 others(10): Show HG01496.hp2 HG02056.hp2 HG02132.hp1 HG02165.hp1 NA18939.hp2 NA18950.hp2 NA18956.hp2 NA18983.hp2 NA18993.hp2 NA18994.hp1 NA19057.hp1 NA19079.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0008 a0001c0002t0003 others(1): Show a0001c0001t0006 a0001c0001t0008 a0001c0002t0003 a0001c0002t0016	a0001c0001t0006g0194 a0001c0001t0006g0198 a0001c0001t0006g0200 others(9): Show a0001c0001t0006g0194 a0001c0001t0006g0198 a0001c0001t0006g0200 a0001c0001t0008g0190 a0001c0002t0003g0007 a0001c0002t0003g0191 a0001c0002t0003g0195 a0001c0002t0003g0196 a0001c0002t0003g0197 a0001c0002t0003g0199 a0001c0002t0016g0192 a0001c0002t0016g0193	13	388	0.0335	46	c.207 others(61): Show c.207+489_207+490insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTCTCTCTCTCTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296124	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0054 a0001c0002t0002g0054	1	388	0.0026	46	c.207 others(61): Show c.207+489_207+490insTTCTTTCTTTCTTTCTTTCTTTCTTTTTCT TTCTCTCTCTCTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFTN1_chr3_16310845_16518699	16415430	T T	TATATATA others(39): Show TATATATATATATATATACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18979.hp2 NA18954.hp2 NA18979.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0008c0010 a0001c0002 a0008c0010	a0001c0002t0005 a0008c0010t0001 a0001c0002t0005 a0008c0010t0001	a0001c0002t0005g0214 a0008c0010t0001g0151 a0001c0002t0005g0214 a0008c0010t0001g0151	2	268	0.0075	46	c.333 others(63): Show c.333-5948_333-5947insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTATATATATATATATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	3/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16415430	T T	TATATATA others(39): Show TATATATATATATATATATACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	268	0.0037	46	c.333 others(63): Show c.333-5948_333-5947insGTGTGTGTGTGTGTGTGTGTGTGTGTGT ATATATATATATATATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	3/9			chr3	TogoVar
RFX1_chr19_13956530_14011320	14003372	A A	ACTGGATC others(39): Show ACTGGATCCCTGGTATCCAGCTTCCTGGATCCCTGGTATCCAGCTTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03041.hp2 HG03688.hp2 HG02630.hp1 HG03041.hp2 HG03688.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0010 a0002c0002 a0004c0010	a0002c0002t0001 a0004c0010t0007 a0004c0010t0017 a0002c0002t0001 a0004c0010t0007 a0004c0010t0017	a0002c0002t0001g0035 a0004c0010t0007g0008 a0004c0010t0017g0007 a0002c0002t0001g0035 a0004c0010t0007g0008 a0004c0010t0017g0007	3	280	0.0107	46	c.-53 others(63): Show c.-53+2730_-53+2731insGAAGCTGGATACCAGGGATCCAGGAAGC TGGATACCAGGGATCCAG	RFX1	ENSG00000132005.9	transcript	ENST00000254325.9	protein_coding	1/20			chr19	TogoVar
RFX7_chr15_56082280_56248879	56141656	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0302 a0001c0003t0004g0302	1	360	0.0028	46	c.401 others(63): Show c.401+1121_401+1122insATATATATATATATATATATATATATAT ATATATATATATATATAT	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9			chr15	TogoVar
RFX8_chr2_101392359_101480112	101469081	T T	TATATATA others(39): Show TATATATATACGTATATATATACGTATATATATACCTATATATATAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0016 a0016	a0016c0025 a0016c0025	a0016c0025t0001 a0016c0025t0001	a0016c0025t0001g0159 a0016c0025t0001g0159	1	352	0.0028	46	c.-52 others(63): Show c.-52-2182_-52-2181insGTATATATATAGGTATATATATACGTAT ATATATACGTATATATAT	RFX8	ENSG00000196460.14	transcript	ENST00000428343.6	protein_coding	1/11			chr2	TogoVar
RGL3_chr19_11389060_11424314	11414501	A A	ATATATAT others(39): Show ATATATATACACCTTCATATATATATATATATATATATATATATACC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0151 a0001c0003t0001g0151	1	402	0.0025	46	c.637 others(63): Show c.637+1435_637+1436insGGTATATATATATATATATATATATATA TATGAAGGTGTATATATA	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGL3_chr19_11389060_11424314	11414502	T T	TATATATA others(39): Show TATATATATACACCTTCATATATATATATATATATATATACACCTTC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0083 a0003c0008t0002g0083	1	402	0.0025	46	c.637 others(63): Show c.637+1434_637+1435insGAAGGTGTATATATATATATATATATAT ATGAAGGTGTATATATAT	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGL3_chr19_11389060_11424314	11414504	T T	TATATATA others(39): Show TATATATACACCTTCATATATATATATATATATATATATACACCTTC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01168.hp2 HG01169.hp2 others(1): Show HG01074.hp1 HG01168.hp2 HG01169.hp2 HG03516.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0113 a0002c0007t0001g0356 a0002c0007t0001g0357 others(1): Show a0002c0007t0001g0113 a0002c0007t0001g0356 a0002c0007t0001g0357 a0002c0007t0001g0393	4	402	0.0100	46	c.637 others(63): Show c.637+1432_637+1433insGAAGGTGTATATATATATATATATATAT ATATGAAGGTGTATATAT	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGL3_chr19_11389060_11424314	11414504	T T	TATATATA others(39): Show TATATATATACACCTTCATATATATATATATATATATATACACCTTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02027.hp1 HG02040.hp1 others(27): Show HG00423.hp2 HG02027.hp1 HG02040.hp1 HG02135.hp2 NA18939.hp1 NA18948.hp1 NA18952.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18964.hp1 NA18966.hp2 NA18971.hp1 NA18977.hp2 NA18981.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18995.hp2 NA18998.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19012.hp2 NA19057.hp1 NA19066.hp2 NA19070.hp2 NA19076.hp1 NA19088.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0003 a0002c0002 a0002c0007 others(3): Show a0001c0003 a0002c0002 a0002c0007 a0003c0008 a0006c0009 a0006c0010	a0001c0003t0001 a0001c0003t0002 a0002c0002t0003 others(6): Show a0001c0003t0001 a0001c0003t0002 a0002c0002t0003 a0002c0007t0001 a0003c0008t0001 a0006c0009t0001 a0006c0009t0002 a0006c0010t0001 a0006c0010t0002	a0001c0003t0001g0168 a0001c0003t0001g0242 a0001c0003t0001g0243 others(27): Show a0001c0003t0001g0168 a0001c0003t0001g0242 a0001c0003t0001g0243 a0001c0003t0001g0326 a0001c0003t0002g0020 a0001c0003t0002g0021 a0001c0003t0002g0063 a0002c0002t0003g0131 a0002c0002t0003g0214 a0002c0007t0001g0117 a0002c0007t0001g0161 a0002c0007t0001g0334 a0003c0008t0001g0133 a0003c0008t0001g0286 a0003c0008t0001g0296 a0003c0008t0001g0378 a0003c0008t0001g0379 a0006c0009t0001g0115 a0006c0009t0001g0141 a0006c0009t0001g0142 a0006c0009t0001g0143 a0006c0009t0001g0144 a0006c0009t0001g0271 a0006c0009t0001g0272 a0006c0009t0001g0300 a0006c0009t0002g0076 a0006c0009t0002g0089 a0006c0010t0001g0116 a0006c0010t0001g0273 a0006c0010t0002g0009	30	402	0.0746	46	c.637 others(63): Show c.637+1432_637+1433insGAAGGTGTATATATATATATATATATAT ATGAAGGTGTATATATAT	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGL3_chr19_11389060_11424314	11414505	A A	ATATATAT others(39): Show ATATATATACACCTTCATATATATATATATATATATATATATATACC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02818.hp2 HG02572.hp2 HG02818.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0016c0029 a0001c0001 a0016c0029	a0001c0001t0001 a0016c0029t0001 a0001c0001t0001 a0016c0029t0001	a0001c0001t0001g0316 a0016c0029t0001g0146 a0001c0001t0001g0316 a0016c0029t0001g0146	2	402	0.0050	46	c.637 others(63): Show c.637+1431_637+1432insGGTATATATATATATATATATATATATA TATGAAGGTGTATATATA	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGL3_chr19_11389060_11424314	11414507	A A	ATATATAT others(39): Show ATATATATACACCTTCATATATATATATATATATATATATATATACC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0014 a0014	a0014c0022 a0014c0022	a0014c0022t0001 a0014c0022t0001	a0014c0022t0001g0162 a0014c0022t0001g0162	1	402	0.0025	46	c.637 others(63): Show c.637+1429_637+1430insGGTATATATATATATATATATATATATA TATGAAGGTGTATATATA	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGPD2_chr2_87750960_87830796	87825373	G G	GGCCGCCG others(39): Show GGCCGCCGCCGCCGCCGCCGCCGCCCGGCCAGGCCGAGGCCGAGGCC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	176	0.0057	46	c.72+ others(59): Show c.72+239_72+284dupGGCCTCGGCCTCGGCCTGGCCGGGCGGCGGCG GCGGCGGCGGCGGC	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGS6_chr14_71927429_72571530	72053075	C C	CCCTTCCC others(39): Show CCCTTCCCTCCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	130	0.0077	46	c.84+ others(63): Show c.84+88203_84+88204insTCCCTCCCTTCCCTCCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCT	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGS7_chr1_240770514_241362205	241068238	G G	GTGTGTGT others(39): Show GTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA21309.hp1 HG02723.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0111 a0001c0001t0001g0100 a0001c0001t0001g0111	2	112	0.0179	46	c.175 others(65): Show c.175+30427_175+30428insTATATATATATATATATATATATATA TATACACACACACACACACA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar

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