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
RBFOX1_chr16_7327845_7718340	7683010	G G	GTGTGTAT others(99): Show GTGTGTATATATACACACACACACACATATATACGTATATATATGTGTGT GTGTATATATACACACACACATATATACGTATATGTGTGTGTGTGTGTAT ATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02809.hp2 HG03225.hp2 others(1): Show HG02647.hp1 HG02809.hp2 HG03225.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0027 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0027 a0001c0002t0003	a0001c0001t0002g0001 a0001c0001t0005g0057 a0001c0001t0027g0221 others(1): Show a0001c0001t0002g0001 a0001c0001t0005g0057 a0001c0001t0027g0221 a0001c0002t0003g0119	4	234	0.0171	106	c.105 others(125): Show c.1058+6173_1058+6174insGTGTATATATACACACACACACACAT ATATACGTATATATATGTGTGTGTGTATATATACACACACACATATATAC GTATATGTGTGTGTGTGTGTATATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RCHY1_chr4_75474033_75519403	75487667	C C	CATATATA others(99): Show CATATATATATTCATAATATATATATTCATATATATATTCATAATATATA TTCATATATATATATTCATAATATATATTCATATATATATTCATAATATA TATTCAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00621.hp2 others(8): Show HG00408.hp1 HG00544.hp1 HG00621.hp2 HG00673.hp2 HG01975.hp2 HG02698.hp1 HG04184.hp1 NA18946.hp1 NA18991.hp2 NA18998.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0014 a0001c0001t0003 a0001c0001t0008 a0001c0001t0014	a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0029 others(8): Show a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0029 a0001c0001t0003g0065 a0001c0001t0003g0067 a0001c0001t0003g0078 a0001c0001t0003g0101 a0001c0001t0003g0105 a0001c0001t0003g0133 a0001c0001t0008g0063 a0001c0001t0014g0032	11	406	0.0271	106	c.657 others(123): Show c.657+2913_657+2914insATGAATATATATTATGAATATATATATG AATATATATTATGAATATATATATATGAATATATATTATGAATATATATA TGAATATATATATTATGAATATATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCHY1_chr4_75474033_75519403	75487682	T T	TATATATA others(99): Show TATATATATTCATATATATATTCATAATATATATATTCATATATATATTC ATAATATATATATTCATATATATATTCATAATATATATTCATATATATAT ATTCATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp1 HG01243.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0106 a0001c0001t0003g0071 a0001c0001t0003g0106	2	406	0.0049	106	c.657 others(123): Show c.657+2898_657+2899insTATGAATATATATATATGAATATATATT ATGAATATATATATGAATATATATATTATGAATATATATATGAATATATA TATTATGAATATATATATGAATATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCHY1_chr4_75474033_75519403	75487682	T T	TATATATA others(99): Show TATATATATTCATATATATATTCATAATATATATTCATATATATATATTC ATAATATATATTCATATATATATATTCATAATATATATTCATATATATAT ATTCATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	406	0.0025	106	c.657 others(123): Show c.657+2898_657+2899insTATGAATATATATATATGAATATATATT ATGAATATATATATATGAATATATATTATGAATATATATATATGAATATA TATTATGAATATATATATGAATATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RERGL_chr12_18075869_18095193	18076354	A A	AGGCAACT others(99): Show AGGCAACTCATGGTTACACTTTCTTTCATGTAATGTCAAGTGATTCCATC ACTCACATTTTTCTTAATTCATTATGCCTTAGCTGCTCCAGGACCACTAA AATGTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	402	0.0025	106	c.48 others(117): Show c.4836_*4837insCAACATTTTAGTGGTCCTGGAGCAGCTAAGGCAT AATGAATTAAGAAAAATGTGAGTGATGGAATCACTTGACATTACATGAAA GAAAGTGTAACCATGAGTTGCC	RERGL	ENSG00000111404.7	transcript	ENST00000538724.6	protein_coding		4514		chr12	TogoVar
RFTN1_chr3_16310845_16518699	16404107	A A	ATTATACA others(99): Show ATTATACATTTTATATATTTTATATATATTATACATTTTATATATTATAT ATTTCATATATAATATATATAATATATATTTCATATATAATATATAATAT ATATTTC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	268	0.0037	106	c.441 others(123): Show c.441+5267_441+5268insGAAATATATATTATATATTATATATGAA ATATATATTATATATATTATATATGAAATATATAATATATAAAATGTATA ATATATATAAAATATATAAAATGTATAA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RGL1_chr1_183800120_183933532	183887206	T T	TCCTGTCC others(99): Show TCCTGTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCT TCCTTCTTTCCTCCCTCCCTCCCTCCCTCTCTTTCTTTGTTTCTCTCTTT CTCTCTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG01070.hp1 others(36): Show HG00438.hp1 HG00642.hp1 HG01070.hp1 HG01081.hp1 HG01106.hp2 HG01167.hp2 HG01257.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02056.hp2 HG02486.hp2 HG03492.hp2 HG03654.hp2 HG03831.hp2 HG04115.hp2 NA18946.hp1 NA18949.hp1 NA18954.hp2 NA18956.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA19002.hp2 NA19005.hp1 NA19057.hp2 NA19065.hp1 NA19070.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 a0001c0002t0008	a0001c0001t0002g0017 a0001c0001t0002g0039 a0001c0001t0002g0170 others(36): Show a0001c0001t0002g0017 a0001c0001t0002g0039 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0003g0074 a0001c0002t0003g0006 a0001c0002t0003g0009 a0001c0002t0003g0010 a0001c0002t0003g0020 a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0028 a0001c0002t0003g0038 a0001c0002t0003g0040 a0001c0002t0003g0047 a0001c0002t0003g0049 a0001c0002t0003g0073 a0001c0002t0003g0085 a0001c0002t0003g0097 a0001c0002t0003g0105 a0001c0002t0003g0125 a0001c0002t0003g0126 a0001c0002t0003g0127 a0001c0002t0003g0128 a0001c0002t0003g0129 a0001c0002t0003g0137 a0001c0002t0003g0138 a0001c0002t0003g0139 a0001c0002t0003g0140 a0001c0002t0003g0157 a0001c0002t0003g0188 a0001c0002t0003g0210 a0001c0002t0003g0228 a0001c0002t0003g0252 a0001c0002t0003g0257 a0001c0002t0003g0258 a0001c0002t0003g0259 a0001c0002t0003g0279 a0001c0002t0008g0035	39	296	0.1318	106	c.952 others(123): Show c.952-1267_952-1266insCTGTCCCTCCCTCCCTCCCTCCCTCCCT CCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTCCCTCCCTCCCTCCCTCT CTTTCTTTGTTTCTCTCTTTCTCTCTCC	RGL1	ENSG00000143344.16	transcript	ENST00000360851.4	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RGS12_chr4_3288021_3444913	3309148	T T	TGCTGAGG others(99): Show TGCTGAGGAGAACCGGGTGGGAGAGGAGCTGGGATCCGGGAATGGCAGGT GTCCGCTGAGGGGAACCGTGCAGGGGAGGAGCTGGGACCCTGGAATGGCA GGTGTCC	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18966.hp2 NA18990.hp2 HG02132.hp2 NA18966.hp2 NA18990.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0002 a0001c0023t0001g0310 a0001c0023t0001g0002 a0001c0023t0001g0310	3	312	0.0096	106	c.-10 others(125): Show c.-101-6915_-101-6914insAGAACCGGGTGGGAGAGGAGCTGGGA TCCGGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGCAGGGGAGGAGCTG GGACCCTGGAATGGCAGGTGTCCGCTGAGG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3309222	G G	GGAGGAGC others(99): Show GGAGGAGCTGGGACCCAGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGC AGGGGAGGAGCTGGGACCTGGGAATGGCAGGTGTCCTCTGAGGAGAGCTG AGCAGGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01975.hp1 HG02055.hp2 others(6): Show HG01891.hp2 HG01975.hp1 HG02055.hp2 HG02258.hp1 HG02717.hp2 HG02809.hp1 HG02922.hp2 HG03225.hp2 NA18522.hp1	a0002 a0002	a0002c0016 a0002c0017 a0002c0056 a0002c0016 a0002c0017 a0002c0056	a0002c0016t0001 a0002c0017t0001 a0002c0056t0001 a0002c0016t0001 a0002c0017t0001 a0002c0056t0001	a0002c0016t0001g0204 a0002c0016t0001g0205 a0002c0016t0001g0207 others(6): Show a0002c0016t0001g0204 a0002c0016t0001g0205 a0002c0016t0001g0207 a0002c0016t0001g0208 a0002c0016t0001g0209 a0002c0016t0001g0210 a0002c0017t0001g0201 a0002c0017t0001g0202 a0002c0056t0001g0203	9	312	0.0289	106	c.-10 others(125): Show c.-101-6835_-101-6834insCCAGGAATGGCAGGTGTCCGCTGAGG GGAACCGTGCAGGGGAGGAGCTGGGACCTGGGAATGGCAGGTGTCCTCTG AGGAGAGCTGAGCAGGAGAGGAGCTGGGAC	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3309237	C C	CAGGAATG others(99): Show CAGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGTGGGGGAGGAGCTGGG ACCCGGGAATGGCAGGTGTCCTCTGAGGAGAGCTGAGCAGGAGAGGAGCT GGGGCCT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0273 a0001c0003t0001g0273	1	312	0.0032	106	c.-10 others(125): Show c.-101-6833_-101-6832insAGGAATGGCAGGTGTCCGCTGAGGGG AACCGTGTGGGGGAGGAGCTGGGACCCGGGAATGGCAGGTGTCCTCTGAG GAGAGCTGAGCAGGAGAGGAGCTGGGGCCT	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17			chr4	TogoVar
RGS12_chr4_3288021_3444913	3309237	C C	CTGGAATG others(99): Show CTGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGTGGGGGAGGAGCTGGG ACCCGGGAATGGCAGGTGTCCTCTGAGGAGAGCTGAGCAGGAGAGGAGCT GGGGCCT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0123 a0001c0005t0001g0124 a0001c0005t0001g0123 a0001c0005t0001g0124	2	312	0.0064	106	c.-10 others(125): Show c.-101-6833_-101-6832insTGGAATGGCAGGTGTCCGCTGAGGGG AACCGTGTGGGGGAGGAGCTGGGACCCGGGAATGGCAGGTGTCCTCTGAG GAGAGCTGAGCAGGAGAGGAGCTGGGGCCT	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17			chr4	TogoVar
RGS12_chr4_3288021_3444913	3309450	A A	AGGAATGG others(99): Show AGGAATGGCAGGTATCCGCTGAGGGGAACCGTGCAGGGGAGGAGCTGGGA CCCTGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGCAGGGGAGGAGCTG GGACCCT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0103 a0001c0008t0001g0103	1	312	0.0032	106	c.-10 others(125): Show c.-101-6608_-101-6607insATCCGCTGAGGGGAACCGTGCAGGGG AGGAGCTGGGACCCTGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGCAG GGGAGGAGCTGGGACCCTGGAATGGCAGGT	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3309608	C C	CCTGGAAT others(99): Show CCTGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGCAGGGGAGGAGCTGG GACCTGGGAATGGCAGGTGTCCTCTGAGGAGAGCTGAGCAGGAGAGGAGC TGGGACT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01071.hp1 HG01074.hp2 others(39): Show HG00738.hp2 HG01071.hp1 HG01074.hp2 HG01255.hp1 HG01257.hp1 HG01361.hp1 HG01891.hp1 HG02004.hp1 HG02040.hp1 HG02080.hp2 HG02109.hp1 HG02145.hp1 HG02273.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03540.hp1 HG04184.hp2 HG04204.hp2 NA18906.hp2 NA18950.hp2 NA18973.hp1 NA19004.hp1 NA19030.hp1 NA19060.hp2 NA19240.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0009 a0016 a0024	a0001c0002 a0001c0004 a0002c0017 others(6): Show a0001c0002 a0001c0004 a0002c0017 a0002c0057 a0002c0058 a0003c0014 a0009c0027 a0016c0045 a0024c0040	a0001c0002t0001 a0001c0004t0001 a0002c0017t0001 others(6): Show a0001c0002t0001 a0001c0004t0001 a0002c0017t0001 a0002c0057t0001 a0002c0058t0001 a0003c0014t0001 a0009c0027t0001 a0016c0045t0001 a0024c0040t0001	a0001c0002t0001g0003 a0001c0002t0001g0213 a0001c0002t0001g0214 others(39): Show a0001c0002t0001g0003 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0224 a0001c0002t0001g0232 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0004t0001g0018 a0001c0004t0001g0218 a0001c0004t0001g0225 a0001c0004t0001g0227 a0001c0004t0001g0229 a0001c0004t0001g0230 a0001c0004t0001g0231 a0001c0004t0001g0233 a0001c0004t0001g0234 a0001c0004t0001g0248 a0001c0004t0001g0254 a0001c0004t0001g0260 a0001c0004t0001g0264 a0001c0004t0001g0265 a0001c0004t0001g0266 a0001c0004t0001g0272 a0002c0017t0001g0252 a0002c0017t0001g0255 a0002c0017t0001g0256 a0002c0057t0001g0259 a0002c0058t0001g0253 a0003c0014t0001g0226 a0003c0014t0001g0228 a0003c0014t0001g0235 a0003c0014t0001g0236 a0009c0027t0001g0219 a0009c0027t0001g0220 a0016c0045t0001g0244 a0024c0040t0001g0257	42	312	0.1346	106	c.-10 others(125): Show c.-101-6462_-101-6461insCTGGAATGGCAGGTGTCCGCTGAGGG GAACCGTGCAGGGGAGGAGCTGGGACCTGGGAATGGCAGGTGTCCTCTGA GGAGAGCTGAGCAGGAGAGGAGCTGGGACT	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17			chr4	TogoVar
RGS12_chr4_3288021_3444913	3309609	T T	TGGGAATG others(99): Show TGGGAATGGCAGGTGTCCTCTGAGGGGAACCGTGTTGAGGAGGAGCTGGG ACCCGGGAATGGCAGGTGTCCTCTGAGGAGAGCTGAGCAGGAGAGGAGCT GGGACTC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01081.hp2 HG02132.hp2 others(6): Show HG01070.hp2 HG01081.hp2 HG02132.hp2 NA18945.hp1 NA18959.hp1 NA18966.hp2 NA18986.hp1 NA18990.hp2 NA18994.hp1	a0001 a0007 a0001 a0007	a0001c0003 a0001c0005 a0001c0023 others(2): Show a0001c0003 a0001c0005 a0001c0023 a0007c0024 a0007c0025	a0001c0003t0001 a0001c0005t0001 a0001c0023t0001 others(2): Show a0001c0003t0001 a0001c0005t0001 a0001c0023t0001 a0007c0024t0001 a0007c0025t0001	a0001c0003t0001g0302 a0001c0005t0001g0126 a0001c0023t0001g0002 others(5): Show a0001c0003t0001g0302 a0001c0005t0001g0126 a0001c0023t0001g0002 a0001c0023t0001g0310 a0007c0024t0001g0281 a0007c0024t0001g0282 a0007c0025t0001g0279 a0007c0025t0001g0280	9	312	0.0289	106	c.-10 others(125): Show c.-101-6444_-101-6443insTCTGAGGGGAACCGTGTTGAGGAGGA GCTGGGACCCGGGAATGGCAGGTGTCCTCTGAGGAGAGCTGAGCAGGAGA GGAGCTGGGACTCGGGAATGGCAGGTGTCC	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3309714	C C	CTGGGAAT others(99): Show CTGGGAATGGCAGGTGTCCTCTGAGGAGAGCTGAGCAGGAGAGGAGCTGG GACTCGGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGTTGAGGAGGAGC TGGGACT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0019 a0019	a0019c0048 a0019c0048	a0019c0048t0001 a0019c0048t0001	a0019c0048t0001g0249 a0019c0048t0001g0249	1	312	0.0032	106	c.-10 others(125): Show c.-101-6286_-101-6285insCGCTGAGGGGAACCGTGTTGAGGAGG AGCTGGGACTTGGGAATGGCAGGTGTCCTCTGAGGAGAGCTGAGCAGGAG AGGAGCTGGGACTCGGGAATGGCAGGTGTC	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3309872	G G	GGGAATGG others(99): Show GGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGCAGGGGAGGAGCTGGGA CCCTGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGCAGGGGAGGAGCTG GGACCCT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01934.hp1 NA18980.hp2 HG01358.hp1 HG01934.hp1 NA18980.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0001 a0001c0003t0001 a0001c0005t0001	a0001c0003t0001g0292 a0001c0003t0001g0293 a0001c0005t0001g0021 a0001c0003t0001g0292 a0001c0003t0001g0293 a0001c0005t0001g0021	3	312	0.0096	106	c.-10 others(125): Show c.-101-6093_-101-6092insTGGAATGGCAGGTGTCCGCTGAGGGG AACCGTGCAGGGGAGGAGCTGGGACCCTGGAATGGCAGGTGTCCGCTGAG GGGAACCGTGCAGGGGAGGAGCTGGGACCC	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3310263	T T	TCTGAGGG others(99): Show TCTGAGGGGAACCGTGTTGAGGAGGAGCTGGGACCCGGGAATGGCAGGTG TCTGCTGAGGGGAACCGTGTTGAGGAGGAGCTGGGACCCGGGAATAGCAG GTGTCTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03471.hp2 HG02280.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0143 a0001c0002t0001g0144	2	312	0.0064	106	c.-10 others(125): Show c.-101-5791_-101-5790insTGAGGAGGAGCTGGGACCCGGGAATG GCAGGTGTCTGCTGAGGGGAACCGTGTTGAGGAGGAGCTGGGACCCGGGA ATAGCAGGTGTCTGCTGAGGGGAACCGTGT	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3310263	T T	TCTGAGGG others(99): Show TCTGAGGGGAACCGTGTTGAGGAGGAGCTGGGACCCGGGAATGGCAGGTG TCTGCTGAGGGGAACCGTGTTGAGGAGGAGCTGGGACCCGGGAATGGCAG GTGTCCG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01071.hp1 HG01515.hp1 others(35): Show HG00735.hp1 HG01071.hp1 HG01515.hp1 HG02165.hp1 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp2 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03834.hp2 HG03942.hp1 NA18945.hp1 NA18959.hp1 NA18966.hp2 NA18984.hp1 NA18986.hp1 NA18990.hp2 NA18994.hp1 NA18998.hp1 NA19004.hp2 NA19064.hp2 NA19081.hp1 NA19240.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0007 others(2): Show a0001 a0003 a0007 a0013 a0021	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0021 a0001c0023 a0001c0026 a0001c0047 a0003c0051 a0007c0024 a0007c0025 a0013c0044 a0021c0036	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(11): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0001c0021t0001 a0001c0023t0001 a0001c0026t0001 a0001c0047t0001 a0003c0051t0001 a0007c0024t0001 a0007c0025t0001 a0013c0044t0001 a0021c0036t0001	a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0053 others(34): Show a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0053 a0001c0002t0001g0172 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0237 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0267 a0001c0003t0001g0273 a0001c0003t0001g0278 a0001c0003t0001g0283 a0001c0003t0001g0284 a0001c0003t0001g0286 a0001c0003t0001g0287 a0001c0005t0001g0109 a0001c0005t0001g0110 a0001c0005t0001g0123 a0001c0005t0001g0124 a0001c0005t0001g0125 a0001c0005t0001g0200 a0001c0006t0001g0148 a0001c0006t0001g0149 a0001c0006t0001g0150 a0001c0021t0001g0004 a0001c0023t0001g0002 a0001c0026t0001g0132 a0001c0026t0001g0133 a0001c0047t0001g0223 a0003c0051t0001g0239 a0007c0024t0001g0281 a0007c0024t0001g0282 a0007c0025t0001g0279 a0007c0025t0001g0280 a0013c0044t0001g0221 a0021c0036t0001g0271	38	312	0.1218	106	c.-10 others(125): Show c.-101-5791_-101-5790insTGAGGAGGAGCTGGGACCCGGGAATG GCAGGTGTCTGCTGAGGGGAACCGTGTTGAGGAGGAGCTGGGACCCGGGA ATGGCAGGTGTCCGCTGAGGGGAACCGTGT	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3310263	T T	TCTGAGGG others(99): Show TCTGAGGGGAACGGTGTTGAGGAGGAGCTGGGACCCGGGAATGGCAGGTG TCTGCTGAGGGGAACCGTGTTGAGGAGGAGCTGGGACCCGGGAATGGCAG GTGTCCG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0192 a0001c0002t0001g0192	1	312	0.0032	106	c.-10 others(125): Show c.-101-5796_-101-5795insGGTGTTGAGGAGGAGCTGGGACCCGG GAATGGCAGGTGTCTGCTGAGGGGAACCGTGTTGAGGAGGAGCTGGGACC CGGGAATGGCAGGTGTCCGCTGAGGGGAAC	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3426074	C C	CGGGGCCA others(99): Show CGGGGCCAGTGCAGGGGAGGGGGCTGTGGGGTTGGCATAGGGGAGGGGGC GAGTGGGGCCAGTGCAGGGGAGGGGGCTGTGGGGTTGGCATAGGGGAGGG GGCGAGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(210): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00423.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02055.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18973.hp1 NA18975.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA19000.hp2 NA19004.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19070.hp2 NA19080.hp1 NA19081.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0017 a0018 a0019 a0023 a0024 a0026 a0028 a0030	a0001c0002 a0001c0003 a0001c0004 others(46): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0013 a0001c0019 a0001c0021 a0001c0023 a0001c0026 a0002c0016 a0002c0017 a0002c0056 a0002c0057 a0002c0058 a0003c0014 a0003c0020 a0003c0022 a0003c0034 a0003c0051 a0004c0009 a0004c0018 a0004c0041 a0005c0011 a0005c0060 a0005c0061 a0005c0062 a0005c0063 a0006c0015 a0006c0055 a0007c0024 a0007c0025 a0008c0028 a0009c0027 a0010c0053 a0011c0035 a0012c0050 a0013c0044 a0017c0054 a0018c0033 a0019c0048 a0023c0030 a0024c0040 a0026c0049 a0028c0043 a0030c0046	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 others(49): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0007t0003 a0001c0008t0001 a0001c0010t0001 a0001c0013t0001 a0001c0019t0001 a0001c0021t0001 a0001c0021t0006 a0001c0023t0001 a0001c0026t0001 a0002c0016t0001 a0002c0017t0001 a0002c0056t0001 a0002c0057t0001 a0002c0058t0001 a0003c0014t0001 a0003c0020t0001 a0003c0020t0003 a0003c0022t0001 a0003c0034t0001 a0003c0051t0001 a0004c0009t0001 a0004c0018t0001 a0004c0041t0001 a0005c0011t0001 a0005c0060t0001 a0005c0061t0001 a0005c0062t0001 a0005c0063t0001 a0006c0015t0002 a0006c0055t0002 a0007c0024t0001 a0007c0025t0001 a0008c0028t0005 a0009c0027t0001 a0010c0053t0001 a0011c0035t0001 a0012c0050t0001 a0013c0044t0001 a0017c0054t0001 a0018c0033t0001 a0019c0048t0001 a0023c0030t0001 a0024c0040t0001 a0026c0049t0001 a0028c0043t0001 a0030c0046t0001	a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0143 others(208): Show a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0164 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0183 a0001c0002t0001g0188 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0224 a0001c0002t0001g0232 a0001c0002t0001g0238 a0001c0002t0001g0242 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0251 a0001c0002t0001g0267 a0001c0002t0001g0269 a0001c0003t0001g0106 a0001c0003t0001g0107 a0001c0003t0001g0273 a0001c0003t0001g0275 a0001c0003t0001g0276 a0001c0003t0001g0277 a0001c0003t0001g0278 a0001c0003t0001g0283 a0001c0003t0001g0284 a0001c0003t0001g0285 a0001c0003t0001g0286 a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0001g0289 a0001c0003t0001g0290 a0001c0003t0001g0292 a0001c0003t0001g0293 a0001c0003t0001g0294 a0001c0003t0001g0295 a0001c0003t0001g0296 a0001c0003t0001g0297 a0001c0003t0001g0298 a0001c0003t0001g0299 a0001c0003t0001g0301 a0001c0003t0001g0302 a0001c0003t0001g0303 a0001c0003t0001g0304 a0001c0003t0001g0306 a0001c0003t0001g0307 a0001c0003t0001g0308 a0001c0003t0001g0309 a0001c0004t0001g0018 a0001c0004t0001g0101 a0001c0004t0001g0218 a0001c0004t0001g0248 a0001c0004t0001g0260 a0001c0004t0001g0264 a0001c0004t0001g0265 a0001c0004t0001g0266 a0001c0004t0001g0268 a0001c0004t0001g0272 a0001c0005t0001g0021 a0001c0005t0001g0109 a0001c0005t0001g0110 a0001c0005t0001g0114 a0001c0005t0001g0115 a0001c0005t0001g0116 a0001c0005t0001g0119 a0001c0005t0001g0121 a0001c0005t0001g0122 a0001c0005t0001g0123 a0001c0005t0001g0124 a0001c0005t0001g0125 a0001c0005t0001g0126 a0001c0005t0001g0127 a0001c0005t0001g0128 a0001c0005t0001g0147 a0001c0005t0001g0200 a0001c0006t0001g0135 a0001c0006t0001g0148 a0001c0006t0001g0149 a0001c0006t0001g0150 a0001c0006t0001g0161 a0001c0006t0001g0168 a0001c0006t0001g0180 a0001c0006t0001g0181 a0001c0006t0001g0182 a0001c0006t0001g0184 a0001c0006t0001g0185 a0001c0006t0001g0186 a0001c0006t0001g0187 a0001c0006t0001g0191 a0001c0006t0001g0194 a0001c0007t0001g0024 a0001c0007t0001g0025 a0001c0007t0001g0032 a0001c0007t0001g0033 a0001c0007t0001g0036 a0001c0007t0001g0046 a0001c0007t0001g0048 a0001c0007t0001g0049 a0001c0007t0001g0050 a0001c0007t0001g0052 a0001c0007t0001g0073 a0001c0007t0001g0085 a0001c0007t0003g0063 a0001c0008t0001g0102 a0001c0008t0001g0103 a0001c0008t0001g0104 a0001c0008t0001g0105 a0001c0008t0001g0197 a0001c0010t0001g0001 a0001c0010t0001g0170 a0001c0010t0001g0174 a0001c0010t0001g0176 a0001c0010t0001g0177 a0001c0010t0001g0179 a0001c0010t0001g0199 a0001c0013t0001g0029 a0001c0013t0001g0129 a0001c0013t0001g0130 a0001c0013t0001g0134 a0001c0013t0001g0300 a0001c0019t0001g0131 a0001c0019t0001g0261 a0001c0019t0001g0262 a0001c0019t0001g0263 a0001c0021t0001g0004 a0001c0021t0001g0022 a0001c0021t0006g0047 a0001c0023t0001g0002 a0001c0023t0001g0310 a0001c0026t0001g0132 a0001c0026t0001g0133 a0002c0016t0001g0204 a0002c0016t0001g0205 a0002c0016t0001g0207 a0002c0016t0001g0208 a0002c0016t0001g0209 a0002c0016t0001g0210 a0002c0017t0001g0201 a0002c0017t0001g0202 a0002c0017t0001g0206 a0002c0017t0001g0252 a0002c0017t0001g0255 a0002c0017t0001g0256 a0002c0056t0001g0203 a0002c0057t0001g0259 a0002c0058t0001g0253 a0003c0014t0001g0175 a0003c0014t0001g0226 a0003c0014t0001g0228 a0003c0014t0001g0235 a0003c0014t0001g0236 a0003c0014t0001g0241 a0003c0020t0001g0044 a0003c0020t0003g0060 a0003c0020t0003g0061 a0003c0022t0001g0291 a0003c0034t0001g0080 a0003c0051t0001g0239 a0004c0009t0001g0010 a0004c0009t0001g0015 a0004c0018t0001g0012 a0004c0018t0001g0014 a0004c0041t0001g0146 a0005c0011t0001g0139 a0005c0011t0001g0151 a0005c0011t0001g0152 a0005c0011t0001g0155 a0005c0011t0001g0156 a0005c0011t0001g0157 a0005c0011t0001g0158 a0005c0011t0001g0160 a0005c0060t0001g0153 a0005c0061t0001g0159 a0005c0062t0001g0140 a0005c0063t0001g0154 a0006c0015t0002g0092 a0006c0015t0002g0095 a0006c0015t0002g0096 a0006c0015t0002g0097 a0006c0015t0002g0098 a0006c0055t0002g0093 a0007c0024t0001g0281 a0007c0024t0001g0282 a0007c0025t0001g0279 a0007c0025t0001g0280 a0008c0028t0005g0141 a0008c0028t0005g0142 a0009c0027t0001g0219 a0009c0027t0001g0220 a0010c0053t0001g0189 a0011c0035t0001g0045 a0012c0050t0001g0163 a0013c0044t0001g0221 a0017c0054t0001g0166 a0018c0033t0001g0027 a0019c0048t0001g0249 a0023c0030t0001g0196 a0024c0040t0001g0257 a0026c0049t0001g0195 a0028c0043t0001g0305 a0030c0046t0001g0178	213	312	0.6827	106	c.333 others(123): Show c.3331+558_3331+559insGGGGCGAGTGGGGCCAGTGCAGGGGAGG GGGCTGTGGGGTTGGCATAGGGGAGGGGGCGAGTGGGGCCAGTGCAGGGG AGGGGGCTGTGGGGTTGGCATAGGGGAG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3426074	C C	CGGGGCCA others(99): Show CGGGGCCAGTGCAGGGGAGGGGGCTGTGGGGTTGGCATAGGGGAGGGGGC GAGTGGGGCCAGTGCAGGGGAGGGGGCTGTGGGGTTGGCATAGGGGAGGG GGTGAGT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0136 a0001c0002t0001g0136	1	312	0.0032	106	c.333 others(123): Show c.3331+558_3331+559insGGGGCGAGTGGGGCCAGTGCAGGGGAGG GGGCTGTGGGGTTGGCATAGGGGAGGGGGTGAGTGGGGCCAGTGCAGGGG AGGGGGCTGTGGGGTTGGCATAGGGGAG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3426074	C C	CGGGGCCA others(99): Show CGGGGCCAGTGCAGGGGAGGGGGCTGTGGGGTTGGCATAGGGGAGGGGGC GAGTGGGGCCAGTGCAGGGGAGTGGGCTGTGGGGTTGGCATAGGGGAGGG GGCGAGT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0118 a0001c0005t0001g0118	1	312	0.0032	106	c.333 others(123): Show c.3331+558_3331+559insGGGGCGAGTGGGGCCAGTGCAGGGGAGT GGGCTGTGGGGTTGGCATAGGGGAGGGGGCGAGTGGGGCCAGTGCAGGGG AGGGGGCTGTGGGGTTGGCATAGGGGAG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGSL1_chr1_182445146_182565597	182533300	T T	TTTTTTTT others(99): Show TTTTTTTTTTTTTTGGTTCAACAATGTATCTTGGACATCATTTTATGTCA GTACACATATATCTGCCTTGTTTTTGACTGCCATAAAATGTCCATTATAT GGATTAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19030.hp2 HG02965.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0207 a0001c0001t0001g0102 a0001c0001t0001g0207	2	338	0.0059	106	c.249 others(123): Show c.2494+523_2494+524insGTTCAACAATGTATCTTGGACATCATTT TATGTCAGTACACATATATCTGCCTTGTTTTTGACTGCCATAAAATGTCC ATTATATGGATTAATTTTTTTTTTTTTG	RGSL1	ENSG00000121446.20	transcript	ENST00000294854.13	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF13_chr3_149808215_149967139	149875897	A A	AAAATATA others(99): Show AAAATATAATTGTTTGGAAATGTTAGTTTTTGGTGAGCATTTGAGATTAA AAAACATTGTTGGCACTTTGGCAAATAAATTAAGGCTGTATTAAATCTTT TAATTAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(157): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00544.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18950.hp1 NA18952.hp1 NA18953.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp2 NA18989.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19058.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19070.hp2 NA19077.hp1 NA19083.hp2 NA19086.hp2 NA19089.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0004 others(2): Show a0001c0001 a0001c0002 a0002c0004 a0002c0008 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0002c0004t0008 a0002c0008t0002 a0005c0006t0001	a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0022 others(157): Show a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0213 a0001c0001t0001g0239 a0001c0001t0001g0245 a0001c0001t0001g0267 a0001c0001t0002g0174 a0001c0001t0002g0188 a0001c0001t0012g0206 a0001c0001t0013g0158 a0001c0001t0014g0133 a0001c0002t0001g0251 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0020 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0244 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0003g0091 a0001c0002t0003g0092 a0001c0002t0003g0093 a0001c0002t0003g0124 a0001c0002t0003g0238 a0001c0002t0003g0254 a0001c0002t0003g0255 a0001c0002t0003g0256 a0001c0002t0003g0257 a0001c0002t0003g0258 a0001c0002t0003g0259 a0001c0002t0003g0260 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0263 a0001c0002t0003g0264 a0001c0002t0004g0013 a0001c0002t0004g0014 a0001c0002t0004g0016 a0001c0002t0004g0017 a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0002t0004g0021 a0001c0002t0004g0023 a0001c0002t0005g0202 a0001c0002t0005g0203 a0001c0002t0005g0204 a0001c0002t0005g0205 a0001c0002t0005g0207 a0001c0002t0005g0208 a0001c0002t0005g0209 a0001c0002t0005g0210 a0001c0002t0006g0005 a0001c0002t0006g0006 a0001c0002t0006g0007 a0001c0002t0006g0008 a0001c0002t0006g0009 a0001c0002t0006g0236 a0001c0002t0006g0237 a0001c0002t0006g0253 a0001c0002t0007g0249 a0001c0002t0007g0250 a0001c0002t0007g0252 a0001c0002t0009g0121 a0002c0004t0008g0199 a0002c0004t0008g0200 a0002c0008t0002g0243 a0005c0006t0001g0178	160	280	0.5714	106	c.321 others(123): Show c.321+3746_321+3747insTATAATTGTTTGGAAATGTTAGTTTTTG GTGAGCATTTGAGATTAAAAAACATTGTTGGCACTTTGGCAAATAAATTA AGGCTGTATTAAATCTTTTAATTAGAAA	RNF13	ENSG00000082996.20	transcript	ENST00000392894.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RNF13_chr3_149808215_149967139	149875897	A A	AAAATATA others(99): Show AAAATATAATTGTTTGGAAATGTTAGTTTTTGGTGAGCATTTGAGATTAA AAAACATTGTTGGCATTTTGGCAAATAAATTAAGGCTGTATTAAATCTTT TAATTAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03041.hp1 HG03130.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0003 a0003c0003t0001g0004 a0003c0003t0001g0002 a0003c0003t0001g0003 a0003c0003t0001g0004	3	280	0.0107	106	c.321 others(123): Show c.321+3746_321+3747insTATAATTGTTTGGAAATGTTAGTTTTTG GTGAGCATTTGAGATTAAAAAACATTGTTGGCATTTTGGCAAATAAATTA AGGCTGTATTAAATCTTTTAATTAGAAA	RNF13	ENSG00000082996.20	transcript	ENST00000392894.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RNF17_chr13_24759169_24884921	24881816	C C	CTATATAG others(99): Show CTATATAGATACATCTATATAGATACATAGATACATCTATATAGATACAT AGATACATCTATATAGATACATAGATACATCTATATAGATACATAGATAC ATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG03195.hp1 HG02886.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0307 a0001c0002t0001g0308	2	426	0.0047	106	c.20 others(117): Show c.2090_*2091insTATATAGATACATCTATATAGATACATAGATACA TCTATATAGATACATAGATACATCTATATAGATACATAGATACATCTATA TAGATACATAGATACATCTAGA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1896		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881946	A A	ATAGATAC others(99): Show ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG02615.hp2 HG00323.hp2 HG02615.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0340 a0002c0003t0001g0342 a0002c0003t0001g0340 a0002c0003t0001g0342	2	426	0.0047	106	c.22 others(117): Show c.2220_*2221insTAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2026		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882026	A A	ATAGATAC others(99): Show ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATAGAGATACATCTATATAGAG ATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0328 a0002c0003t0001g0328	1	426	0.0024	106	c.23 others(117): Show c.2300_*2301insTAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATAGAGA TACATCTATATAGAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2106		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882089	T T	TATATAGA others(99): Show TATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATAGATATATAGATACATCTATATATAGATACATC TATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0012 a0003c0007t0001g0012	1	426	0.0024	106	c.23 others(117): Show c.2363_*2364insATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATAGATATATAGATACATCT ATATATAGATACATCTATATAG	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2169		chr13	TogoVar
RNFT2_chr12_116733315_116858631	116750797	G G	GTATATAT others(99): Show GTATATATATATAATATATATATTATATATATATATAATATATATATTAT ATATATATAATATATATATTATATATATAATATATATAATATATATATTA TATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp1 HG03486.hp2 others(1): Show HG02257.hp2 HG02559.hp1 HG03486.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0011 a0001c0002t0002 a0001c0001t0002 a0001c0001t0011 a0001c0002t0002	a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0011g0033 others(1): Show a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0011g0033 a0001c0002t0002g0030	4	268	0.0149	106	c.550 others(121): Show c.550+522_550+523insTATAATATATATATTATATATATATAATAT ATATATTATATATATAATATATATAATATATATATTATATATATTATATA TATATAATATATATATTATATATATA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
ROBO2_chr3_77035099_77654964	77290534	G G	GATCACCC others(99): Show GATCACCCCAGACATAAAGCAAAATTGACGGTTAACCGGGAAGGCTGAGG CTAGATCACCCCAGACGTAAAGTAAAATTGACGGTTAAATGGGTAAGCTG AGGCTAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00735.hp1 others(41): Show HG00140.hp1 HG00280.hp1 HG00735.hp1 HG00735.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01361.hp2 HG01516.hp2 HG01978.hp1 HG02056.hp2 HG02083.hp1 HG02293.hp1 HG02717.hp1 HG02738.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG04228.hp1 NA18945.hp1 NA18945.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18970.hp2 NA18973.hp2 NA18986.hp2 NA19006.hp1 NA19006.hp2 NA19011.hp2 NA19012.hp2 NA19062.hp2 NA19070.hp1 NA19077.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0035 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0035 others(41): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0118 a0001c0001t0001g0160 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0076 a0001c0001t0002g0091 a0001c0001t0002g0097 a0001c0001t0002g0107 a0001c0001t0003g0068 a0001c0001t0003g0073 a0001c0001t0003g0132 a0001c0001t0003g0140 a0001c0001t0004g0024 a0001c0001t0004g0124 a0001c0001t0004g0150 a0001c0001t0005g0043 a0001c0001t0006g0019 a0001c0001t0006g0022 a0001c0001t0006g0023 a0001c0001t0006g0025 a0001c0001t0006g0030 a0001c0001t0008g0032 a0001c0001t0008g0135 a0001c0001t0009g0090 a0001c0001t0010g0037 a0001c0001t0010g0110 a0001c0001t0010g0144 a0001c0001t0035g0041 a0001c0001t0042g0149 a0001c0001t0044g0062 a0001c0001t0045g0072 a0001c0001t0046g0004 a0001c0001t0047g0026	44	160	0.2750	106	c.389 others(127): Show c.389-186866_389-186865insAAAGCAAAATTGACGGTTAACCGG GAAGGCTGAGGCTAGATCACCCCAGACGTAAAGTAAAATTGACGGTTAAA TGGGTAAGCTGAGGCTACATCACCCCAGACAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77291650	C C	CAAAGACA others(99): Show CAAAGACATAAAGTAAAATTGACGGTTAAACGGATAAGCTGAGGCTAGAT CACCAAAGACATAAAGAAAAATTGATGCTTAAACGGGTAAACTGACGCTA GAGCACT	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA19043.hp1 HG01106.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0037 a0001c0001t0011 a0001c0001t0037	a0001c0001t0011g0053 a0001c0001t0037g0011 a0001c0001t0011g0053 a0001c0001t0037g0011	2	160	0.0125	106	c.389 others(127): Show c.389-185764_389-185763insAAAGACATAAAGTAAAATTGACGG TTAAACGGATAAGCTGAGGCTAGATCACCAAAGACATAAAGAAAAATTGA TGCTTAAACGGGTAAACTGACGCTAGAGCACT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27			chr3	TogoVar
ROBO2_chr3_77035099_77654964	77292025	A A	AATAAAGT others(99): Show AATAAAGTAAAATTGACGGCTTAACGGGTAAGCTGAGACTAGTTCACCCC AGACATAAAGTAAAATTGACGGTTAAACGGGTAAGCTGAGGCTAGATCAC CCCAGAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03098.hp1 HG02895.hp2 HG03098.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0002 a0001c0001t0002 a0003c0004t0002	a0001c0001t0002g0128 a0003c0004t0002g0092 a0001c0001t0002g0128 a0003c0004t0002g0092	2	160	0.0125	106	c.389 others(127): Show c.389-185373_389-185268dupCGGCTTAACGGGTAAGCTGAGACT AGTTCACCCCAGACATAAAGTAAAATTGACGGTTAAACGGGTAAGCTGAG GCTAGATCACCCCAGACATAAAGTAAAATTGA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPH3AL_chr17_207389_357807	287207	T T	TCTCTCCA others(99): Show TCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCGCAC CCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACC TCACACC	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18612.hp2 NA20905.hp1 HG02080.hp1 NA18612.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0014 a0001c0001t0037 a0001c0004t0001 a0001c0001t0014 a0001c0001t0037 a0001c0004t0001	a0001c0001t0014g0025 a0001c0001t0037g0058 a0001c0004t0001g0062 a0001c0001t0014g0025 a0001c0001t0037g0058 a0001c0004t0001g0062	3	133	0.0226	106	c.352 others(123): Show c.352-5354_352-5353insGGTGTGAGGTCTGACGGTGGAGAGAGAG GGTGCGAGGTCTGACGGTGGAGAGAGAGGGTGCGAGGTCTGACGGTGGAG AGAGGGTGTGAGGTCTGACGGTGGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288139	C C	CCTCTCTC others(99): Show CCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCAC ACCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTC GCACCCT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	133	0.0075	106	c.352 others(123): Show c.352-6286_352-6285insAGGGTGCGAGGTCTGACGGTGGAGAGAG GGTGTGAGGTCTGACGGTGGAGAGAGGGTGTGAGGTCTGACGGTGGAGAG AGGGTGTGAGGTCTGACGGTGGAGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288219	T T	TCTCTCCA others(99): Show TCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCACTC CCTCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCTCCACCGTCAGACC TCGCACC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0062 a0001c0004t0001g0062	1	133	0.0075	106	c.352 others(123): Show c.352-6366_352-6365insGGTGCGAGGTCTGACGGTGGAGAGAGAG GGAGTGAGGTCTGACGGTGGAGAGAGAGGGAGTGAGGTCTGACGGTGGAG AGAGGGTGCGAGGTCTGACGGTGGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288797	G G	GTCAGACC others(99): Show GTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCA CCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCACACCCTCTCTC TCCACCA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	133	0.0075	106	c.352 others(123): Show c.352-6944_352-6943insTGGTGGAGAGAGAGGGTGTGAGGTCTGA CGGTGGAGAGAGGGAGTGAGGTCTGACGGTGGAGAGAGGGAGTGAGGTCT GACGGTGGAGAGAGGGAGTGAGGTCTGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPLP0_chr12_120191699_120206111	120205946	C C	CAAAAAAA others(99): Show CAAAAAAAAAAAAAAAGAAAAGAAAGTAATTACAGAAAGTCATATAGCAA CAAAACTCTCCAGGAAGGGCTTAAAATATCGACTATTTAGAGTGAGACTC CGTCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	372	0.0027	106	c.-49 others(117): Show c.-4913_-4912insTGTGACGGAGTCTCACTCTAAATAGTCGATATTT TAAGCCCTTCCTGGAGAGTTTTGTTGCTATATGACTTTCTGTAATTACTT TCTTTTCTTTTTTTTTTTTTTT	RPLP0	ENSG00000089157.16	transcript	ENST00000392514.9	protein_coding		4836		chr12	TogoVar
RPSA2_chr19_23758004_23833868	23761922	T T	TCCTTCCT others(99): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0118 a0002c0002t0009g0118	1	366	0.0027	106	c.-15 others(117): Show c.-1515_-1514insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1081		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761922	T T	TCCTTCCT others(99): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0075 a0002c0002t0075	a0002c0002t0075g0230 a0002c0002t0075g0230	1	366	0.0027	106	c.-15 others(117): Show c.-1515_-1514insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCTTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1081		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761922	T T	TCCTTCCT others(99): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0085 a0002c0002t0085	a0002c0002t0085g0188 a0002c0002t0085g0188	1	366	0.0027	106	c.-15 others(117): Show c.-1515_-1514insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1081		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80825157	A A	ATGGGGCA others(99): Show ATGGGGCAGCCACATCCCACCTCTCCATCTAGAGGCCGCGTGGCGAGGCC AGCGTGGGGCAGCCACATCCCACCTCTCCATCTAGAGGCCGCGTGGCGAG GCCAGCG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0072 a0001c0072	a0001c0072t0006 a0001c0072t0006	a0001c0072t0006g0108 a0001c0072t0006g0108	1	196	0.0051	106	c.113 others(125): Show c.1136+1960_1136+2065dupATCTAGAGGCCGCGTGGCGAGGCCAG CGTGGGGCAGCCACATCCCACCTCTCCATCTAGAGGCCGCGTGGCGAGGC CAGCGTGGGGCAGCCACATCCCACCTCTCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	9/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTP5_chr2_241864729_241878823	241874908	A A	AGGGGTCC others(99): Show AGGGGTCCCAGGAGAAACCCCAATCCAGGTCTCAGGGGCCGAAATGCAGG GACGGGGGTCCTAGGAGAAACCCCAATCCAGGTCTCAGGGGCCAAAATGC AGGGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0001 a0003c0003t0003g0001	1	365	0.0027	106	c.16 others(117): Show c.1634_*1635insGGGGTCCCAGGAGAAACCCCAATCCAGGTCTCAG GGGCCGAAATGCAGGGACGGGGGTCCTAGGAGAAACCCCAATCCAGGTCT CAGGGGCCAAAATGCAGGGACG	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		1086		chr2	TogoVar
RUNDC3B_chr7_87623398_87837296	87626748	A A	ATGTGTCA others(99): Show ATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATAT ATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCAT ATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG03831.hp2 HG02135.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0042 a0001c0001t0003g0088 a0001c0001t0001g0042 a0001c0001t0003g0088	2	202	0.0099	106	c.-20 others(117): Show c.-2076_-2075insTGTGTCATATATATGTGTCATATATATGTGTCAT ATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTC ATATATATGTGTCATATATATG	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1649		chr7	TogoVar
SAMD10_chr20_63969116_63984642	63970766	C C	CTTCTCCT others(99): Show CTTCTCCTTCCTTCCCTCCTCCCTCCCTTCTTCCTTCCTTTCCTTCTTCT TCCTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCCTCCCTCCTT CTCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	342	0.0029	106	c.47 others(117): Show c.4743_*4744insAAGGGAGAAGGAGGGAGGGAAGAGAAGAGAAGGA AGGAAAGAGAAAAGGAAGGAGGAAGAAGAAGGAAAGGAAGGAAGAAGGGA GGGAGGAGGGAAGGAAGGAGAA	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding		3349		chr20	TogoVar
SAMD11_chr1_918923_949574	934237	A A	AGGCGGCT others(99): Show AGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGG CAGGGGCGGCTGCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGGTGGG CGGGGGG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0018 a0018	a0018c0057 a0018c0057	a0018c0057t0004 a0018c0057t0004	a0018c0057t0004g0234 a0018c0057t0004g0234	1	434	0.0023	106	c.843 others(123): Show c.843-1528_843-1527insGCGTTACAGGTGGGCGGGGGGGGCGGCT CCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGGTGGGCAGGGGCGGCT GCGTTACAGGTGGGCGGGGGGGGCGGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SATL1_chrX_85087284_85248779	85088190	A A	ATATTTAT others(99): Show ATATTTATACATATATATGTATAAATACATATACATATATGTGTACATAT ACATATTTATACATATATGTATAAATACATATTTATACATATATATGTAT AAATACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0020 a0003c0003t0001g0020	1	232	0.0043	106	c.42 others(117): Show c.4200_*4201insAGTATTTATACATATATATGTATAAATATGTATT TATACATATATGTATAAATATGTATATGTACACATATATGTATATGTATT TATACATATATATGTATAAATA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4093		chrX	TogoVar
SCAMP1_chr5_78355617_78485739	78460820	C C	CCTTCCTT others(99): Show CCTTCCTTCCTTCCTTCCTTCCTTCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	332	0.0030	106	c.852 others(123): Show c.852+1461_852+1462insCCTTCCTTCCTTCCTTCCTTCTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCFD1_chr14_30617319_30740850	30625721	A A	ATACCTAT others(99): Show ATACCTATATAGGTATAGGTATATAGGCATATAGGTATACCTATATAGGT ATAGGTATATAGGCATATAGGTATACCTATATAGGTATAGGTATATAGGT ATATAGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp1 HG03139.hp2 others(3): Show HG01243.hp1 HG02451.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0208 others(3): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0208 a0001c0001t0001g0209 a0002c0002t0001g0034 a0002c0002t0001g0035	6	328	0.0183	106	c.62- others(121): Show c.62-2486_62-2485insCCTATATAGGTATAGGTATATAGGCATATA GGTATACCTATATAGGTATAGGTATATAGGCATATAGGTATACCTATATA GGTATAGGTATATAGGTATATAGGTA	SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
SCN2B_chr11_118157806_118181639	118164268	A A	AAAAAAAT others(99): Show AAAAAAATGAAATCTGCAAGCTGCAGAAATGTATACAACCACTCTTGGTC TCAGCTGGCATGAGGTGCCCGCCACCCACCTCTCTGCCCCAGCTGGCTGG CTTGAGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0085 a0001c0001t0033g0085	1	450	0.0022	106	c.26 others(117): Show c.2618_*2619insCCTCAAGCCAGCCAGCTGGGGCAGAGAGGTGGGT GGCGGGCACCTCATGCCAGCTGAGACCAAGAGTGGTTGTATACATTTCTG CAGCTTGCAGATTTCATTTTTT	SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding	4/4	2618		chr11	TogoVar

Search by Variant

Search

Search Results