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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RUBCNL_chr13_46329681_46392252	46362923	CATATATA others(11): Show CATATATATATATATAGAT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0066 a0002c0002t0001g0066	1	119	0.0084	-18	c.925 others(33): Show c.925+174_925+191delATCTATATATATATATAT		RUBCNL	ENSG00000102445.20	transcript	ENST00000429979.6	protein_coding	6/14						chr13	TogoVar
RUFY1_chr5_179545554_179615012	179580819	CTCTGGCT others(11): Show CTCTGGCTGTCTCTTGGTT	C C	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0086 a0001c0002t0002g0086	1	374	0.0027	-18	c.891 others(33): Show c.891-124_891-107delGGCTGTCTCTTGGTTTCT		RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding	6/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
RUFY2_chr10_68338408_68412277	68376442	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03139.hp2 HG03471.hp2 HG01106.hp1 HG03139.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0011 a0001c0001t0006 a0001c0001t0011	a0001c0001t0006g0168 a0001c0001t0011g0187 a0001c0001t0011g0188 a0001c0001t0006g0168 a0001c0001t0011g0187 a0001c0001t0011g0188	3	201	0.0149	-18	c.132 others(35): Show c.1325+393_1325+410delTATATATATATATATATA		RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding	13/17						chr10	TogoVar
RUFY3_chr4_70716964_70813619	70720888	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02486.hp2 HG02145.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0009 a0001c0001t0007g0010 a0001c0001t0007g0009 a0001c0001t0007g0010	2	65	0.0308	-18	c.-16 others(29): Show c.-1685_-1668delGTGTGTGTGTGTGTGTGT		RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding					1075		chr4	TogoVar
RUFY3_chr4_70716964_70813619	70733119	AGGGAGGG others(11): Show AGGGAGGGAGGGAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG01884.hp2 others(16): Show HG01109.hp1 HG01243.hp1 HG01884.hp2 HG01891.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG03017.hp2 HG03139.hp1 HG03453.hp2 HG03540.hp1 HG03688.hp1 HG06807.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 others(5): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0033 a0001c0001t0035	a0001c0001t0008g0236 a0001c0001t0008g0237 a0001c0001t0008g0249 others(16): Show a0001c0001t0008g0236 a0001c0001t0008g0237 a0001c0001t0008g0249 a0001c0001t0009g0241 a0001c0001t0009g0245 a0001c0001t0009g0246 a0001c0001t0009g0247 a0001c0001t0009g0248 a0001c0001t0009g0251 a0001c0001t0011g0228 a0001c0001t0011g0232 a0001c0001t0011g0234 a0001c0001t0011g0235 a0001c0001t0016g0252 a0001c0001t0016g0253 a0001c0001t0020g0244 a0001c0001t0021g0233 a0001c0001t0033g0239 a0001c0001t0035g0238	19	238	0.0798	-18	c.178 others(37): Show c.178+10370_178+10387delGGAGGGAGGGAGGGAGGG		RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr4	TogoVar
RUFY4_chr2_218064253_218095584	218068108	AGCAGGGG others(11): Show AGCAGGGGACTGGAGGAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(111): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02698.hp1 HG02698.hp2 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03130.hp2 HG03239.hp2 HG03490.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18948.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18978.hp2 NA18995.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19056.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19068.hp2 NA19077.hp1 NA19087.hp1 NA19089.hp2 NA19090.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012 a0001c0015 a0001c0019 a0001c0025 a0002c0004 a0016c0016	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0007 a0001c0003t0001 a0001c0012t0001 a0001c0015t0001 a0001c0019t0001 a0001c0025t0001 a0002c0004t0001 a0016c0016t0002	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0033 others(61): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0002g0024 a0001c0002t0001g0001 a0001c0002t0001g0007 a0001c0002t0001g0011 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0092 a0001c0002t0001g0094 a0001c0002t0007g0001 a0001c0003t0001g0007 a0001c0003t0001g0093 a0001c0012t0001g0001 a0001c0015t0001g0025 a0001c0019t0001g0001 a0001c0025t0001g0087 a0002c0004t0001g0013 a0002c0004t0001g0034 a0002c0004t0001g0095 a0002c0004t0001g0096 a0016c0016t0002g0172	114	392	0.2908	-18	c.-14 others(29): Show c.-1424_-1407delGCAGGGGACTGGAGGAGG		RUFY4	ENSG00000188282.13	transcript	ENST00000697321.1	protein_coding					1144		chr2	TogoVar
RUFY4_chr2_218064253_218095584	218068173	AGAGGAGG others(11): Show AGAGGAGGGCAGGGGACTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0053 a0003c0005t0001g0053	1	376	0.0027	-18	c.-13 others(29): Show c.-1359_-1342delGAGGAGGGCAGGGGACTG		RUFY4	ENSG00000188282.13	transcript	ENST00000697321.1	protein_coding					1079		chr2	TogoVar
RUNDC3B_chr7_87623398_87837296	87625973	TATATATA others(11): Show TATATATATATATATGTAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0067 a0001c0001t0066 a0001c0001t0067	a0001c0001t0066g0019 a0001c0001t0067g0018 a0001c0001t0066g0019 a0001c0001t0067g0018	2	200	0.0100	-18	c.-28 others(29): Show c.-2850_-2833delATATATATATATATGTAC		RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding					2424		chr7	TogoVar
RUNX1_chr21_34782801_35054302	34931317	ATTATATA others(11): Show ATTATATATATATACACAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	168	0.0060	-18	c.59- others(35): Show c.59-38372_59-38355delATGTGTATATATATATAA		RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8						chr21	TogoVar
RUNX1_chr21_34782801_35054302	35000793	CTGTTCCA others(11): Show CTGTTCCAGGGAAAATGGG	C C	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	168	0.0060	-18	c.58+ others(35): Show c.58+48031_58+48048delCCCATTTTCCCTGGAACA		RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8						chr21	TogoVar
RUNX1_chr21_34782801_35054302	35047545	ACACACAC others(11): Show ACACACACACACACACACT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	167	0.0060	-18	c.58+ others(33): Show c.58+1279_58+1296delAGTGTGTGTGTGTGTGTG		RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8						chr21	TogoVar
RUNX1_chr21_34782801_35054302	35047549	ACACACAC others(11): Show ACACACACACACACTCTCT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02622.hp2 HG06807.hp2 others(2): Show HG02572.hp2 HG02622.hp2 HG06807.hp2 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0027 a0001c0002t0003 a0001c0001t0001 a0001c0001t0027 a0001c0002t0003	a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0127 others(2): Show a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0127 a0001c0001t0027g0103 a0001c0002t0003g0104	5	138	0.0362	-18	c.58+ others(33): Show c.58+1275_58+1292delAGAGAGTGTGTGTGTGTG		RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8						chr21	TogoVar
RUNX1_chr21_34782801_35054302	35047551	ACACACAC others(11): Show ACACACACACACTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	147	0.0068	-18	c.58+ others(33): Show c.58+1273_58+1290delAGAGAGAGTGTGTGTGTG		RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8						chr21	TogoVar
RUNX2_chr6_45323330_45556082	45422749	AGGCGGCG others(11): Show AGGCGGCGGCGGCGGCTGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01192.hp2 HG01255.hp1 HG01192.hp2 HG01255.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0148 a0002c0003t0001g0160 a0002c0003t0001g0148 a0002c0003t0001g0160	2	176	0.0114	-18	c.243 others(25): Show c.243_260delGGCGGCTGCGGCGGCGGC	p.Ala others(11): Show p.Ala82_Ala87del	RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding	3/9	440/5540	243/1566	81/521		INFO_REALIGN_3_PRIME	chr6	TogoVar
RUNX2_chr6_45323330_45556082	45519790	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01243.hp2 HG01346.hp1 others(16): Show HG00323.hp1 HG01243.hp2 HG01346.hp1 HG01928.hp1 HG01934.hp2 HG02055.hp1 HG02056.hp2 HG03491.hp2 HG03492.hp2 NA18955.hp2 NA18964.hp1 NA18964.hp2 NA19063.hp2 NA19064.hp2 NA19084.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0001c0001t0001 a0001c0001t0003 a0001c0002t0003	a0001c0001t0001g0020 a0001c0001t0001g0093 a0001c0001t0001g0140 others(16): Show a0001c0001t0001g0020 a0001c0001t0001g0093 a0001c0001t0001g0140 a0001c0001t0003g0009 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0050 a0001c0001t0003g0052 a0001c0001t0003g0076 a0001c0001t0003g0083 a0001c0001t0003g0103 a0001c0001t0003g0113 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0141 a0001c0001t0003g0146 a0001c0001t0003g0150 a0001c0001t0003g0154 a0001c0002t0003g0058	19	105	0.1810	-18	c.102 others(37): Show c.1021+7413_1021+7430delGTGTGTGTGTGTGTGTGT		RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
RUNX3_chr1_24894511_24935276	24913299	TGGGAGGG others(11): Show TGGGAGGGCAGATCCCAGC	T T	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0138 a0001c0001t0005g0138	1	384	0.0026	-18	c.545 others(35): Show c.545-5900_545-5883delGCTGGGATCTGCCCTCCC		RUNX3	ENSG00000020633.19	transcript	ENST00000308873.11	protein_coding	3/4						chr1	TogoVar
RUSC2_chr9_35485111_35566895	35513190	TTTGTTGT others(11): Show TTTGTTGTTGTTGTTGTTG	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0304 a0001c0012t0001g0304	1	90	0.0111	-18	c.-93 others(37): Show c.-93+23043_-93+23060delTTGTTGTTGTTGTTGTTG		RUSC2	ENSG00000198853.12	transcript	ENST00000361226.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr9	TogoVar
RUVBL2_chr19_48988887_49020970	49012843	CCACACAC others(11): Show CCACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0186 a0001c0002t0001g0186	1	128	0.0078	-18	c.100 others(37): Show c.1001+1557_1001+1574delACACACACACACACACAC		RUVBL2	ENSG00000183207.15	transcript	ENST00000595090.6	protein_coding	11/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
RXFP4_chr1_155936638_155948087	155945280	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02818.hp2 HG02258.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	54	0.0370	-18	c.24 others(29): Show c.2447_*2464delGTGTGTGTGTGTGTGTGT		RXFP4	ENSG00000173080.6	transcript	ENST00000368318.5	protein_coding					2194		chr1	TogoVar
RXRA_chr9_134321455_134445585	134421873	CCTCCCGG others(11): Show CCTCCCGGGATACTCCGCA	C C	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0012 a0001c0001t0052g0012	1	177	0.0056	-18	c.910 others(31): Show c.910+78_910+95delTACTCCGCACTCCCGGGA		RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	6/9					INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRA_chr9_134321455_134445585	134422040	ATCTCCCA others(11): Show ATCTCCCAGGACGCTCCCC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01257.hp1 HG01433.hp1 others(4): Show HG01074.hp1 HG01257.hp1 HG01433.hp1 HG02027.hp1 HG03195.hp1 HG03471.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0019 others(2): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0019 a0001c0001t0054 a0001c0001t0055	a0001c0001t0003g0060 a0001c0001t0014g0085 a0001c0001t0014g0173 others(4): Show a0001c0001t0003g0060 a0001c0001t0014g0085 a0001c0001t0014g0173 a0001c0001t0019g0059 a0001c0001t0019g0190 a0001c0001t0054g0018 a0001c0001t0055g0167	7	230	0.0304	-18	c.910 others(33): Show c.910+265_910+282delGCTCCCCTCTCCCAGGAC		RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	6/9					INFO_REALIGN_3_PRIME	chr9	TogoVar
RXYLT1_chr12_63774909_63814562	63803181	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	107	0.0093	-18	c.743 others(33): Show c.743+789_743+806delAAAAAAAAAAAAAAAAAA		RXYLT1	ENSG00000118600.13	transcript	ENST00000261234.11	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr12	TogoVar
RYR1_chr19_38428691_38592564	38502751	TGGGGCAG others(11): Show TGGGGCAGGGGCAGGGGCA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 NA18951.hp2 HG01070.hp2 HG01071.hp1 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0066 a0001c0001 a0001c0066	a0001c0001t0001 a0001c0066t0001 a0001c0001t0001 a0001c0066t0001	a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0066t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0066t0001g0085	3	142	0.0211	-18	c.783 others(33): Show c.7835+65_7836-71delCAGGGGCAGGGGCAGGGG		RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	48/105					INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38502796	GGCAGGGG others(11): Show GGCAGGGGCAGGGGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01975.hp2 HG02615.hp2 others(7): Show HG01884.hp1 HG01975.hp2 HG02615.hp2 HG02970.hp1 HG03017.hp1 HG03130.hp2 HG03471.hp1 NA18980.hp2 NA19010.hp2 NA19074.hp2	a0001 a0004 a0008 others(1): Show a0001 a0004 a0008 a0019	a0001c0023 a0001c0027 a0001c0028 others(6): Show a0001c0023 a0001c0027 a0001c0028 a0001c0052 a0001c0069 a0001c0118 a0004c0015 a0008c0039 a0019c0083	a0001c0023t0001 a0001c0027t0001 a0001c0028t0001 others(6): Show a0001c0023t0001 a0001c0027t0001 a0001c0028t0001 a0001c0052t0003 a0001c0069t0001 a0001c0118t0001 a0004c0015t0001 a0008c0039t0001 a0019c0083t0002	a0001c0023t0001g0057 a0001c0027t0001g0030 a0001c0028t0001g0106 others(7): Show a0001c0023t0001g0057 a0001c0027t0001g0030 a0001c0028t0001g0106 a0001c0052t0003g0040 a0001c0069t0001g0041 a0001c0118t0001g0078 a0004c0015t0001g0196 a0004c0015t0001g0197 a0008c0039t0001g0031 a0019c0083t0002g0205	10	216	0.0463	-18	c.783 others(33): Show c.7836-70_7836-53delGAGGAGCAGGGGCAGGGG		RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	48/105					INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38549875	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0018 a0018	a0018c0073 a0018c0073	a0018c0073t0001 a0018c0073t0001	a0018c0073t0001g0137 a0018c0073t0001g0137	1	34	0.0294	-18	c.122 others(39): Show c.12282+1489_12282+1506delGTGTGTGTGTGTGTGTGT		RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	89/105					INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38551025	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02630.hp2 HG03130.hp2 others(4): Show HG00735.hp2 HG02630.hp2 HG03130.hp2 HG03669.hp2 HG03834.hp1 NA18522.hp2 NA20300.hp2	a0001 a0002 a0019 others(1): Show a0001 a0002 a0019 a0026	a0001c0054 a0001c0062 a0001c0110 others(3): Show a0001c0054 a0001c0062 a0001c0110 a0002c0025 a0019c0083 a0026c0109	a0001c0054t0001 a0001c0062t0001 a0001c0110t0001 others(3): Show a0001c0054t0001 a0001c0062t0001 a0001c0110t0001 a0002c0025t0001 a0019c0083t0002 a0026c0109t0001	a0001c0054t0001g0033 a0001c0062t0001g0083 a0001c0110t0001g0179 others(4): Show a0001c0054t0001g0033 a0001c0062t0001g0083 a0001c0110t0001g0179 a0002c0025t0001g0162 a0002c0025t0001g0166 a0019c0083t0002g0205 a0026c0109t0001g0016	7	52	0.1346	-18	c.122 others(39): Show c.12282+2627_12282+2644delTTTTTTTTTTTTTTTTTT		RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	89/105					INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38590394	AATATATA others(11): Show AATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG03098.hp1 HG03453.hp2 others(1): Show HG02257.hp2 HG03098.hp1 HG03453.hp2 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0055 a0005c0007 a0001c0055 a0005c0007	a0001c0055t0001 a0005c0007t0002 a0001c0055t0001 a0005c0007t0002	a0001c0055t0001g0034 a0005c0007t0002g0202 a0005c0007t0002g0209 others(1): Show a0001c0055t0001g0034 a0005c0007t0002g0202 a0005c0007t0002g0209 a0005c0007t0002g0210	4	112	0.0357	-18	c.29 others(29): Show c.2975_*2992delATATATATATATATATAT		RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding					2831		chr19	TogoVar
RYR2_chr1_237037184_237838988	237178416	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0057 a0001c0007t0003g0057	1	13	0.0769	-18	c.49- others(35): Show c.49-92045_49-92028delGTGTGTGTGTGTGTGTGT		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104					INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237208936	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02559.hp1 HG01256.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0012 a0001c0001t0007g0011 a0001c0001t0001g0012 a0001c0001t0007g0011	2	51	0.0392	-18	c.49- others(35): Show c.49-61529_49-61512delATATATATATATATATAT		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104					INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237350590	AAAAAAAA others(11): Show AAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01074.hp1 HG01928.hp1 others(5): Show HG00738.hp2 HG01074.hp1 HG01928.hp1 HG02055.hp2 HG02293.hp2 NA18946.hp2 NA18962.hp2 NA19066.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0003c0006 a0007c0033	a0001c0001t0003 a0001c0001t0015 a0001c0003t0002 others(5): Show a0001c0001t0003 a0001c0001t0015 a0001c0003t0002 a0001c0004t0011 a0001c0007t0001 a0001c0008t0025 a0003c0006t0004 a0007c0033t0008	a0001c0001t0003g0088 a0001c0001t0015g0069 a0001c0003t0002g0090 others(5): Show a0001c0001t0003g0088 a0001c0001t0015g0069 a0001c0003t0002g0090 a0001c0004t0011g0093 a0001c0007t0001g0020 a0001c0008t0025g0039 a0003c0006t0004g0087 a0007c0033t0008g0049	8	94	0.0851	-18	c.274 others(35): Show c.274-5373_274-5356delAAAAAAAAAAAATATATA		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	3/104					INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237380359	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0006 a0003c0006t0002g0006	1	17	0.0588	-18	c.576 others(35): Show c.576+2970_576+2987delTATATATATATATATATA		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	8/104					INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237474278	CACACACA others(11): Show CACACACATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0001 a0001c0045t0001	a0001c0045t0001g0073 a0001c0045t0001g0073	1	100	0.0100	-18	c.170 others(37): Show c.1708+5099_1708+5116delTATATATATATACACACA		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104					INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237529760	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0059 a0001c0002t0023g0059	1	18	0.0556	-18	c.282 others(35): Show c.2823-646_2823-629delACACACACACACACACAC		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	24/104					INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237535484	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0058 a0001c0004t0001g0058	1	31	0.0323	-18	c.290 others(37): Show c.2906+4991_2906+5008delACACACACACACACACAC		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	25/104					INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237594886	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0052 a0001c0002t0003g0052	1	31	0.0323	-18	c.443 others(35): Show c.4437-584_4437-567delTTTTTTTTTTTTTTTTTT		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	33/104					INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237626580	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0063 a0001c0003t0001g0063	1	36	0.0278	-18	c.616 others(35): Show c.6166+790_6166+807delTTTTTTTTTTTTTTTTTT		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	40/104					INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237697175	ATGGGCTC others(11): Show ATGGGCTCTTCCCTGTACC	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0059 a0001c0002t0023g0059	1	100	0.0100	-18	c.906 others(37): Show c.9068-1786_9068-1769delGCTCTTCCCTGTACCTGG		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	63/104					INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237714991	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0035 a0002c0035	a0002c0035t0018 a0002c0035t0018	a0002c0035t0018g0010 a0002c0035t0018g0010	1	34	0.0294	-18	c.103 others(39): Show c.10324-2192_10324-2175delAAAAAAAAAAAAAAAAAA		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	71/104					INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237731145	AATGTGTA others(11): Show AATGTGTAGACTATTGGAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00408.hp2 others(25): Show HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00609.hp2 HG01109.hp1 HG01175.hp1 HG01256.hp2 HG01261.hp2 HG01361.hp1 HG01496.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp2 HG02293.hp2 HG02451.hp1 HG03098.hp2 HG03195.hp1 HG03516.hp1 HG03579.hp1 HG03669.hp2 HG03831.hp2 HG04228.hp2 NA18522.hp1 NA18946.hp1 NA18946.hp2 NA18962.hp2 NA19066.hp1 NA19066.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0007	a0001c0001 a0001c0003 a0001c0004 others(16): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0017 a0001c0019 a0001c0027 a0001c0029 a0001c0032 a0001c0036 a0001c0042 a0001c0044 a0001c0049 a0002c0009 a0005c0046 a0006c0020 a0007c0033	a0001c0001t0001 a0001c0001t0015 a0001c0001t0035 others(25): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0035 a0001c0001t0038 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0004t0001 a0001c0004t0002 a0001c0004t0011 a0001c0005t0006 a0001c0005t0013 a0001c0005t0014 a0001c0007t0001 a0001c0008t0025 a0001c0017t0034 a0001c0019t0019 a0001c0027t0002 a0001c0029t0008 a0001c0032t0005 a0001c0036t0003 a0001c0042t0017 a0001c0044t0002 a0001c0049t0010 a0002c0009t0004 a0005c0046t0012 a0006c0020t0001 a0007c0033t0008	a0001c0001t0001g0012 a0001c0001t0015g0069 a0001c0001t0035g0026 others(25): Show a0001c0001t0001g0012 a0001c0001t0015g0069 a0001c0001t0035g0026 a0001c0001t0038g0001 a0001c0003t0002g0065 a0001c0003t0003g0084 a0001c0003t0005g0018 a0001c0004t0001g0058 a0001c0004t0002g0092 a0001c0004t0011g0093 a0001c0005t0006g0029 a0001c0005t0013g0061 a0001c0005t0014g0004 a0001c0007t0001g0020 a0001c0008t0025g0039 a0001c0017t0034g0032 a0001c0019t0019g0035 a0001c0027t0002g0085 a0001c0029t0008g0089 a0001c0032t0005g0098 a0001c0036t0003g0038 a0001c0042t0017g0050 a0001c0044t0002g0014 a0001c0049t0010g0044 a0002c0009t0004g0067 a0005c0046t0012g0080 a0006c0020t0001g0015 a0007c0033t0008g0049	28	100	0.2800	-18	c.109 others(37): Show c.10935+792_10935+809delGTGTAGACTATTGGATAT		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	77/104					INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237792364	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01168.hp1 HG01169.hp2 others(14): Show HG00741.hp2 HG01168.hp1 HG01169.hp2 HG02257.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02922.hp2 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp1 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA18522.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0007 others(11): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008 a0001c0014 a0001c0015 a0001c0028 a0001c0037 a0001c0049 a0002c0009 a0002c0012 a0002c0038 a0002c0039 a0004c0034	a0001c0001t0035 a0001c0001t0038 a0001c0002t0003 others(14): Show a0001c0001t0035 a0001c0001t0038 a0001c0002t0003 a0001c0002t0023 a0001c0002t0028 a0001c0007t0016 a0001c0008t0024 a0001c0014t0032 a0001c0015t0006 a0001c0028t0007 a0001c0037t0012 a0001c0049t0010 a0002c0009t0002 a0002c0012t0002 a0002c0038t0040 a0002c0039t0033 a0004c0034t0013	a0001c0001t0035g0026 a0001c0001t0038g0001 a0001c0002t0003g0052 others(14): Show a0001c0001t0035g0026 a0001c0001t0038g0001 a0001c0002t0003g0052 a0001c0002t0023g0059 a0001c0002t0028g0033 a0001c0007t0016g0042 a0001c0008t0024g0081 a0001c0014t0032g0031 a0001c0015t0006g0034 a0001c0028t0007g0062 a0001c0037t0012g0037 a0001c0049t0010g0044 a0002c0009t0002g0079 a0002c0012t0002g0072 a0002c0038t0040g0096 a0002c0039t0033g0030 a0004c0034t0013g0043	17	100	0.1700	-18	c.137 others(35): Show c.13782+57_13782+74delTGCGTGTGTGTGTGTGTG		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	94/104					INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237793323	GAATCATT others(11): Show GAATCATTATGTTCTAGAA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0005 a0001c0030t0005	a0001c0030t0005g0053 a0001c0030t0005g0053	1	100	0.0100	-18	c.137 others(37): Show c.13783-529_13783-512delAGAAAATCATTATGTTCT		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	94/104					INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237795836	GTATATAT others(11): Show GTATATATATATATGTATA	G G	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0007 a0007	a0007c0033 a0007c0033	a0007c0033t0008 a0007c0033t0008	a0007c0033t0008g0049 a0007c0033t0008g0049	1	40	0.0250	-18	c.139 others(37): Show c.13956+507_13956+524delATATATATATATGTATAT		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	96/104					INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33401888	ATTTTGTG others(11): Show ATTTTGTGTTTTCCAAATC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0044 a0002c0044	a0002c0044t0003 a0002c0044t0003	a0002c0044t0003g0105 a0002c0044t0003g0105	1	152	0.0066	-18	c.52- others(35): Show c.52-71513_52-71496delCTTTTGTGTTTTCCAAAT		RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103					INFO_REALIGN_3_PRIME	chr15	TogoVar
S100PBP_chr1_32812653_32863875	32858751	ATTTACTG others(11): Show ATTTACTGGCGTTGTCAGT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0012 a0001c0001t0024g0012	1	338	0.0030	-18	c.27 others(29): Show c.2716_*2733delTACTGGCGTTGTCAGTTT		S100PBP	ENSG00000116497.18	transcript	ENST00000373475.10	protein_coding	7/7				2716	INFO_REALIGN_3_PRIME	chr1	TogoVar
S100P_chr4_6688878_6702170	6701096	TTTATTAT others(11): Show TTTATTATTATTATTATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG02922.hp2 HG03710.hp1 others(2): Show HG01175.hp1 HG02922.hp2 HG03710.hp1 HG04115.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	5	111	0.0450	-18	c.40 others(29): Show c.4055_*4072delTTATTATTATTATTATTA		S100P	ENSG00000163993.7	transcript	ENST00000296370.4	protein_coding					3927		chr4	TogoVar
S100Z_chr5_76845014_76926650	76894421	CATATTTT others(11): Show CATATTTTGTTCAGAATAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02258.hp2 HG02818.hp2 others(24): Show HG00558.hp1 HG02258.hp2 HG02818.hp2 HG03041.hp2 HG03453.hp2 HG03491.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp1 NA18939.hp1 NA18941.hp1 NA18943.hp1 NA18944.hp2 NA18947.hp2 NA18950.hp1 NA18957.hp2 NA18964.hp2 NA18966.hp2 NA18969.hp2 NA18977.hp2 NA18992.hp1 NA18998.hp1 NA19005.hp2 NA19054.hp1 NA19062.hp2 NA19063.hp1 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(4): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0018 a0001c0003t0003 a0002c0001t0001	a0001c0002t0001g0017 a0001c0002t0001g0077 a0001c0002t0001g0087 others(24): Show a0001c0002t0001g0017 a0001c0002t0001g0077 a0001c0002t0001g0087 a0001c0002t0001g0150 a0001c0002t0001g0156 a0001c0002t0001g0158 a0001c0002t0001g0161 a0001c0002t0001g0184 a0001c0002t0001g0193 a0001c0002t0001g0217 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0285 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0303 a0001c0002t0001g0329 a0001c0002t0002g0304 a0001c0002t0003g0247 a0001c0002t0003g0264 a0001c0002t0003g0283 a0001c0002t0003g0297 a0001c0002t0003g0299 a0001c0002t0004g0224 a0001c0002t0018g0338 a0001c0003t0003g0298 a0002c0001t0001g0061	27	346	0.0780	-18	c.2+ others(35): Show c.2+16590_*2+16607delATTTTGTTCAGAATAAAT		S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
S100Z_chr5_76845014_76926650	76906976	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA19063.hp2 NA19086.hp2 HG02132.hp2 NA19063.hp2 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0004 a0002c0001t0004 a0001c0002t0004 a0002c0001t0004	a0001c0002t0004g0220 a0002c0001t0004g0037 a0002c0001t0004g0195 a0001c0002t0004g0220 a0002c0001t0004g0037 a0002c0001t0004g0195	3	258	0.0116	-18	c.3- others(35): Show c.3-13710_*3-13693delTATATATATATATATATA		S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
S1PR2_chr19_10216433_10236331	10223168	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(83): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00544.hp1 HG00558.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG01069.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp2 HG01928.hp1 HG01943.hp2 HG02004.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02148.hp2 HG02258.hp1 HG02300.hp1 HG02523.hp2 HG02602.hp1 HG02683.hp2 HG02895.hp2 HG02896.hp2 HG03490.hp2 HG03710.hp2 HG03834.hp1 HG06807.hp1 NA18747.hp1 NA18940.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19057.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19088.hp2 NA19091.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0014 a0001c0001t0031 others(2): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0031 a0001c0001t0032 a0001c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 others(27): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0014g0072 a0001c0001t0014g0075 a0001c0001t0014g0167 a0001c0001t0014g0170 a0001c0001t0014g0175 a0001c0001t0031g0182 a0001c0001t0032g0172 a0001c0010t0001g0171	86	116	0.7414	-18	c.65 others(27): Show c.658_*675delTTTTTTTTTTTTTTTTTT		S1PR2	ENSG00000267534.4	transcript	ENST00000646641.1	protein_coding	2/2				658		chr19	TogoVar
SAA1_chr11_18261264_18274967	18262928	TTCTTAGT others(11): Show TTCTTAGTGATCCAGAGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0043 a0008c0012t0001g0043	1	440	0.0023	-18	c.-33 others(29): Show c.-3372_-3355delTCTTAGTGATCCAGAGGC		SAA1	ENSG00000173432.13	transcript	ENST00000356524.9	protein_coding					3335		chr11	TogoVar
SAA1_chr11_18261264_18274967	18268831	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19075.hp2 HG00621.hp2 NA19075.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0054 a0002c0001t0001g0001 a0001c0002t0001g0054 a0002c0001t0001g0001	2	174	0.0115	-18	c.92- others(31): Show c.92-349_92-332delAAAAAAAAAAAAAAAAAA		SAA1	ENSG00000173432.13	transcript	ENST00000356524.9	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr11	TogoVar

Search by Variant

Search

Search Results