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
C7orf50_chr7_992006_1143247	1002889	TTGGGTGA others(43): Show TTGGGTGAGTGGAGTCCTGTGGGTTTGGAGTCCTGTGGGTAGGGAGTCCT G	T T	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19054.hp2 NA19004.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0128 a0001c0001t0009g0148 a0001c0001t0009g0128 a0001c0001t0009g0148	2	324	0.0062	-50	c.324 others(67): Show c.324-2388_324-2339delCAGGACTCCCTACCCACAGGACTCCAAA CCCACAGGACTCCACTCACCCA	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	3/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1003561	TGGGTGGG others(43): Show TGGGTGGGGAGTCCTGTGGGTGGGGAGTCCTGTGGGTGAGTGGAGTCCTG C	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp2 HG01891.hp2 others(14): Show HG00639.hp2 HG01109.hp2 HG01891.hp2 HG02145.hp1 HG02630.hp1 HG02698.hp1 HG02922.hp1 HG02976.hp2 HG03139.hp2 HG03453.hp2 HG03579.hp2 NA18906.hp2 NA18943.hp2 NA18961.hp2 NA19056.hp1 NA19064.hp2 NA19240.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0007 a0001c0001 a0008c0007	a0001c0001t0005 a0001c0001t0008 a0001c0001t0016 others(2): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0016 a0001c0001t0020 a0008c0007t0008	a0001c0001t0005g0204 a0001c0001t0005g0268 a0001c0001t0005g0279 others(14): Show a0001c0001t0005g0204 a0001c0001t0005g0268 a0001c0001t0005g0279 a0001c0001t0005g0297 a0001c0001t0005g0308 a0001c0001t0005g0311 a0001c0001t0008g0116 a0001c0001t0008g0150 a0001c0001t0008g0151 a0001c0001t0008g0152 a0001c0001t0008g0153 a0001c0001t0008g0154 a0001c0001t0008g0168 a0001c0001t0016g0101 a0001c0001t0016g0113 a0001c0001t0020g0001 a0008c0007t0008g0161	17	324	0.0525	-50	c.324 others(67): Show c.324-3060_324-3011delGCAGGACTCCACTCACCCACAGGACTCC CCACCCACAGGACTCCCCACCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	3/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1016254	CGCCAGCA others(43): Show CGCCAGCACACAGCAGCGCACGCCAGCACACAGCAGTGCACGCCAGCACA T	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02145.hp2 HG02258.hp2 others(1): Show HG00099.hp1 HG02145.hp2 HG02258.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008	a0001c0001t0003g0323 a0001c0001t0005g0208 a0001c0001t0005g0251 others(1): Show a0001c0001t0003g0323 a0001c0001t0005g0208 a0001c0001t0005g0251 a0001c0001t0008g0129	4	324	0.0123	-50	c.130 others(67): Show c.130-6161_130-6112delATGTGCTGGCGTGCACTGCTGTGTGCTG GCGTGCGCTGCTGTGTGCTGGC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1116186	TGACATCA others(43): Show TGACATCACTACAGCTCTAGGGACTGGCTTCCATCACCAACGCCCACGCA G	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0143 a0001c0001t0007g0143	1	324	0.0031	-50	c.129 others(69): Show c.129+11021_129+11070delCTGCGTGGGCGTTGGTGATGGAAGCC AGTCCCTAGAGCTGTAGTGATGTC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1116239	TGACTTCA others(43): Show TGACTTCACTACAGCTCTACGGACCGGCTTCCATCACCAAGGCCCACGCA G	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01071.hp2 others(21): Show HG00639.hp1 HG00741.hp1 HG01071.hp2 HG01074.hp2 HG01243.hp2 HG01433.hp1 HG01515.hp2 HG01884.hp2 HG01928.hp1 HG01978.hp1 HG01981.hp2 HG02273.hp1 HG02735.hp2 HG03471.hp2 HG03491.hp2 HG03540.hp1 HG04184.hp2 NA18747.hp1 NA18955.hp1 NA19004.hp1 NA19054.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 others(1): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010	a0001c0001t0007g0127 a0001c0001t0007g0141 a0001c0001t0007g0142 others(21): Show a0001c0001t0007g0127 a0001c0001t0007g0141 a0001c0001t0007g0142 a0001c0001t0007g0144 a0001c0001t0007g0147 a0001c0001t0008g0129 a0001c0001t0009g0120 a0001c0001t0009g0125 a0001c0001t0009g0128 a0001c0001t0009g0130 a0001c0001t0009g0136 a0001c0001t0009g0137 a0001c0001t0009g0138 a0001c0001t0009g0139 a0001c0001t0009g0140 a0001c0001t0009g0148 a0001c0001t0010g0121 a0001c0001t0010g0122 a0001c0001t0010g0123 a0001c0001t0010g0124 a0001c0001t0010g0132 a0001c0001t0010g0133 a0001c0001t0010g0145 a0001c0001t0010g0149	24	324	0.0741	-50	c.129 others(69): Show c.129+10968_129+11017delCTGCGTGGGCCTTGGTGATGGAAGCC GGTCCGTAGAGCTGTAGTGAAGTC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1128733	CCTGTCAC others(43): Show CCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCGCACCC T	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02071.hp1 HG02698.hp2 others(12): Show HG01361.hp1 HG02071.hp1 HG02698.hp2 HG02922.hp2 HG03139.hp2 HG03704.hp1 HG04204.hp1 NA18948.hp1 NA18959.hp2 NA18964.hp1 NA18983.hp2 NA18985.hp2 NA19000.hp1 NA19007.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0015	a0001c0001t0002g0213 a0001c0001t0002g0218 a0001c0001t0002g0219 others(12): Show a0001c0001t0002g0213 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0229 a0001c0001t0002g0236 a0001c0001t0003g0217 a0001c0001t0003g0237 a0001c0001t0005g0308 a0001c0001t0011g0211 a0001c0001t0011g0212 a0001c0001t0011g0232 a0001c0001t0011g0307 a0001c0001t0015g0231	15	248	0.0605	-50	c.-1- others(65): Show c.-1-1397_-1-1348delAGGGTGCGATGAGCCGAGATGGCGCCACTG CACTCCAGCCCGGGTGACAG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CAB39L_chr13_49303650_49449064	49318483	AGGGAAAG others(43): Show AGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAG G	A A	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0181 a0001c0002t0002g0181	1	197	0.0051	-50	c.835 others(67): Show c.835-7540_835-7491delCCTTTCCCTTTCCCTTTCCCTTTCCCTT TCCCTTTCCCTTTCCCTTTCCC	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CABIN1_chr22_24006304_24183628	24011117	ACACACGC others(43): Show ACACACGCACACGCACACGCGCACGCGCGCACACACGCGCACACACGCGC G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	76	0.0132	-50	c.-32 others(59): Show c.-324_-275delCACACGCACACGCACACGCGCACGCGCGCACACACG CGCACACACGCGCG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		186		chr22	TogoVar
CABIN1_chr22_24006304_24183628	24011125	ACACGCAC others(43): Show ACACGCACACGCGCACGCGCGCACACACGCGCACACACGCGCGCACGCGC G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0013 a0013	a0013c0026 a0013c0026	a0013c0026t0004 a0013c0026t0004	a0013c0026t0004g0129 a0013c0026t0004g0129	1	256	0.0039	-50	c.-31 others(59): Show c.-316_-267delCACGCACACGCGCACGCGCGCACACACGCGCACACA CGCGCGCACGCGCG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		178		chr22	TogoVar
CACNA1A_chr19_13201442_13511479	13376819	GATATATA others(43): Show GATATATAACACATGTTATATGTGATATATAACACATATGTTATATGTGA T	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0135 a0001c0005t0001g0135	1	216	0.0046	-50	c.540 others(67): Show c.540-5090_540-5041delATCACATATAACATATGTGTTATATATC ACATATAACATGTGTTATATAT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1B_chr9_137872782_138129619	137884302	GCACGGCC others(43): Show GCACGGCCCTGGGGTAGAATTTATGGAAGGCCCTGTGGGGGTCTGTGGCT C	G G	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0244 a0002c0011t0002g0244	1	246	0.0041	-50	c.530 others(67): Show c.530+1467_530+1516delCTCCACGGCCCTGGGGTAGAATTTATGG AAGGCCCTGTGGGGGTCTGTGG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA2D4_chr12_1786963_1923652	1840284	GCCCGCCA others(43): Show GCCCGCCAGCCTTTCTTTCAGCTACAGAATGCCTCAGTAATGCTCTATTA A	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0245 a0001c0002t0003g0245	1	316	0.0032	-50	c.255 others(67): Show c.2551+405_2551+454delTTAATAGAGCATTACTGAGGCATTCTGT AGCTGAAAGAAAGGCTGGCGGG	CACNA2D4	ENSG00000151062.15	transcript	ENST00000382722.10	protein_coding	26/37			chr12	TogoVar
CACNB2_chr10_18135424_18548557	18358503	TCTCTCTC others(43): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC G	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01943.hp1 NA18989.hp1 HG00423.hp1 HG01943.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0005 a0001c0002t0055 a0001c0001t0003 a0001c0002t0005 a0001c0002t0055	a0001c0001t0003g0047 a0001c0002t0005g0118 a0001c0002t0055g0160 a0001c0001t0003g0047 a0001c0002t0005g0118 a0001c0002t0055g0160	3	200	0.0150	-50	c.214 others(69): Show c.214-43402_214-43353delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCGCTCTCTCTCTCTCTCTCT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18442936	ATATATGT others(43): Show ATATATGTGTATATATATATATGTATATATATATGTGTATATATATATAT G	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	189	0.0053	-50	c.333 others(69): Show c.333+40899_333+40948delGTGTATATATATATATGTATATATAT ATGTGTATATATATATATGTATAT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18358503	TCTCTCTC others(43): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC G	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01934.hp1 HG01943.hp2 others(3): Show HG00423.hp1 HG01934.hp1 HG01943.hp2 NA18953.hp1 NA18989.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0004	a0001c0001t0001g0223 a0001c0001t0001g0284 a0001c0001t0003g0282 others(3): Show a0001c0001t0001g0223 a0001c0001t0001g0284 a0001c0001t0003g0282 a0001c0002t0002g0285 a0001c0002t0004g0283 a0001c0002t0004g0286	6	300	0.0200	-50	c.51+ others(67): Show c.51+17545_51+17594delCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCGCTCTCTCTCTCTCTCTCT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18442936	ATATATGT others(43): Show ATATATGTGTATATATATATATGTATATATATATGTGTATATATATATAT G	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	280	0.0036	-50	c.171 others(69): Show c.171+40899_171+40948delGTGTATATATATATATGTATATATAT ATGTGTATATATATATATGTATAT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CALCOCO2_chr17_48826035_48870245	48854713	TTAGTTTT others(43): Show TTAGTTTTCATGGAATATTTTTCAAGACCTAGGGGCTCCCCACCTGGCTG A	T T	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0016 a0002c0003t0008g0016	1	326	0.0031	-50	c.913 others(67): Show c.913-1375_913-1326delTTTTCATGGAATATTTTTCAAGACCTAG GGGCTCCCCACCTGGCTGATAG	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALML5_chr10_5493697_5504570	5497984	GACACAGA others(43): Show GACACAGAGACACACACACACAGATAGGCACACAGACACACACAAACACA T	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	442	0.0023	-50	c.96 others(60): Show c.964_*1013delATGTGTTTGTGTGTGTCTGTGTGCCTATCTGTGTG TGTGTGTCTCTGTGT	CALML5	ENSG00000178372.8	transcript	ENST00000380332.5	protein_coding		712		chr10	TogoVar
CALN1_chr7_71774491_72417338	72052889	GGAGGCCA others(43): Show GGAGGCCAAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTG A	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01168.hp2 HG02300.hp2 HG01106.hp2 HG01168.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0030 a0001c0001t0001 a0001c0001t0030	a0001c0001t0001g0038 a0001c0001t0001g0126 a0001c0001t0030g0020 a0001c0001t0001g0038 a0001c0001t0001g0126 a0001c0001t0030g0020	3	142	0.0211	-50	c.389 others(69): Show c.389-29170_389-29121delTCAAAGTGCTGGGATTACAGGCGTGA GCCACCACACCTGGCCTTGGCCTC	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	4/6			chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12734424	ATATATAT others(43): Show ATATATATATACACACACACATATGTGTATATATACACATACACATATGT G	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(181): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18999.hp1 NA18999.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(102): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0064 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0109 a0001c0001t0110 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 a0001c0002t0015 a0001c0002t0016 a0001c0002t0021 a0001c0002t0023 a0001c0002t0024 a0001c0002t0025 a0001c0002t0027 a0001c0002t0032 a0001c0002t0051 a0001c0002t0052 a0001c0002t0053 a0001c0002t0054 a0001c0002t0055 a0001c0002t0060 a0001c0002t0061 a0001c0002t0063 a0001c0002t0065 a0001c0002t0066 a0001c0002t0067 a0001c0002t0068 a0001c0002t0073 a0001c0002t0107 a0001c0003t0007 a0001c0003t0022	a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0047 others(181): Show a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0095 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0172 a0001c0001t0001g0191 a0001c0001t0002g0003 a0001c0001t0002g0041 a0001c0001t0002g0088 a0001c0001t0002g0126 a0001c0001t0002g0171 a0001c0001t0002g0176 a0001c0001t0002g0193 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0206 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0012 a0001c0001t0003g0045 a0001c0001t0003g0129 a0001c0001t0003g0141 a0001c0001t0003g0167 a0001c0001t0003g0179 a0001c0001t0003g0195 a0001c0001t0004g0016 a0001c0001t0004g0025 a0001c0001t0005g0014 a0001c0001t0005g0040 a0001c0001t0005g0054 a0001c0001t0005g0062 a0001c0001t0005g0137 a0001c0001t0005g0189 a0001c0001t0005g0204 a0001c0001t0006g0073 a0001c0001t0006g0075 a0001c0001t0006g0152 a0001c0001t0006g0177 a0001c0001t0006g0187 a0001c0001t0006g0194 a0001c0001t0007g0068 a0001c0001t0007g0078 a0001c0001t0007g0183 a0001c0001t0009g0072 a0001c0001t0009g0100 a0001c0001t0009g0122 a0001c0001t0009g0213 a0001c0001t0011g0009 a0001c0001t0012g0132 a0001c0001t0012g0173 a0001c0001t0012g0185 a0001c0001t0013g0107 a0001c0001t0013g0120 a0001c0001t0013g0155 a0001c0001t0014g0147 a0001c0001t0014g0211 a0001c0001t0014g0212 a0001c0001t0017g0159 a0001c0001t0017g0198 a0001c0001t0017g0200 a0001c0001t0018g0013 a0001c0001t0018g0090 a0001c0001t0018g0190 a0001c0001t0019g0039 a0001c0001t0019g0084 a0001c0001t0020g0031 a0001c0001t0020g0142 a0001c0001t0022g0070 a0001c0001t0028g0099 a0001c0001t0028g0203 a0001c0001t0029g0059 a0001c0001t0029g0136 a0001c0001t0030g0092 a0001c0001t0030g0188 a0001c0001t0031g0168 a0001c0001t0031g0169 a0001c0001t0033g0138 a0001c0001t0033g0186 a0001c0001t0034g0083 a0001c0001t0034g0202 a0001c0001t0035g0106 a0001c0001t0036g0125 a0001c0001t0037g0011 a0001c0001t0037g0052 a0001c0001t0038g0049 a0001c0001t0038g0174 a0001c0001t0040g0081 a0001c0001t0041g0080 a0001c0001t0042g0085 a0001c0001t0043g0026 a0001c0001t0046g0074 a0001c0001t0047g0066 a0001c0001t0048g0182 a0001c0001t0049g0101 a0001c0001t0050g0027 a0001c0001t0056g0154 a0001c0001t0058g0093 a0001c0001t0059g0192 a0001c0001t0064g0105 a0001c0001t0069g0044 a0001c0001t0070g0123 a0001c0001t0071g0121 a0001c0001t0072g0057 a0001c0001t0074g0060 a0001c0001t0075g0210 a0001c0001t0076g0127 a0001c0001t0077g0184 a0001c0001t0078g0199 a0001c0001t0079g0151 a0001c0001t0080g0160 a0001c0001t0081g0096 a0001c0001t0082g0067 a0001c0001t0083g0061 a0001c0001t0084g0119 a0001c0001t0085g0110 a0001c0001t0086g0181 a0001c0001t0087g0124 a0001c0001t0088g0087 a0001c0001t0089g0035 a0001c0001t0090g0115 a0001c0001t0092g0163 a0001c0001t0093g0114 a0001c0001t0094g0094 a0001c0001t0095g0149 a0001c0001t0096g0098 a0001c0001t0097g0065 a0001c0001t0098g0037 a0001c0001t0099g0043 a0001c0001t0100g0135 a0001c0001t0101g0156 a0001c0001t0102g0010 a0001c0001t0103g0162 a0001c0001t0104g0089 a0001c0001t0105g0111 a0001c0001t0106g0109 a0001c0001t0109g0161 a0001c0001t0110g0150 a0001c0002t0004g0077 a0001c0002t0004g0091 a0001c0002t0004g0170 a0001c0002t0004g0208 a0001c0002t0008g0108 a0001c0002t0008g0153 a0001c0002t0010g0007 a0001c0002t0015g0050 a0001c0002t0015g0069 a0001c0002t0015g0148 a0001c0002t0016g0005 a0001c0002t0016g0166 a0001c0002t0016g0180 a0001c0002t0021g0023 a0001c0002t0021g0048 a0001c0002t0023g0102 a0001c0002t0023g0103 a0001c0002t0024g0128 a0001c0002t0024g0131 a0001c0002t0025g0029 a0001c0002t0025g0146 a0001c0002t0027g0116 a0001c0002t0032g0008 a0001c0002t0051g0178 a0001c0002t0052g0214 a0001c0002t0053g0002 a0001c0002t0054g0019 a0001c0002t0055g0207 a0001c0002t0060g0104 a0001c0002t0061g0033 a0001c0002t0063g0201 a0001c0002t0065g0140 a0001c0002t0066g0097 a0001c0002t0067g0053 a0001c0002t0068g0021 a0001c0002t0073g0058 a0001c0002t0107g0117 a0001c0003t0007g0063 a0001c0003t0022g0024	184	214	0.8598	-50	c.300 others(69): Show c.300-26515_300-26466delTACACACACACATATGTGTATATATA CACATACACATATGTGTATATATA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK2B_chr7_44212154_44330594	44227436	GGGGTGTG others(43): Show GGGGTGTGGAAGACAGAGGAAGTGTGGGGGACAGAAGGGGGTATGGGGGG C	G G	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0043 a0001c0008t0001g0043	1	233	0.0043	-50	c.146 others(67): Show c.1469-842_1469-793delGCCCCCCATACCCCCTTCTGTCCCCCAC ACTTCCTCTGTCTTCCACACCC	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK2D_chr4_113446032_113766738	113462278	GTGTGTGT others(43): Show GTGTGTGTGTGTGTGTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGT C	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0082 a0001c0001t0017g0082	1	270	0.0037	-50	c.121 others(69): Show c.1212-2087_1212-2038delGACAGACAGACAGACAGACAGACAGA CAGACAGACACACACACACACACA	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	17/20			chr4	TogoVar
CAMKK2_chr12_121232692_121301709	121295447	GTGGCTAA others(43): Show GTGGCTAACTCCCCCAAAGCCCTCCCCTTGTTGCAGCCCCCGCCTCCTCC A	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0307 a0004c0005t0001g0307	1	328	0.0030	-50	c.-60 others(67): Show c.-60+1141_-60+1190delTGGAGGAGGCGGGGGCTGCAACAAGGGG AGGGCTTTGGGGGAGTTAGCCA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	1/16			chr12	TogoVar
CAMKMT_chr2_44356947_44777592	44409080	GATATATA others(43): Show GATATATATATATATATATATATATATATATATATATATATATATATATA T	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01975.hp2 HG02559.hp1 others(6): Show HG01106.hp1 HG01975.hp2 HG02559.hp1 HG03540.hp2 NA18960.hp1 NA18964.hp2 NA18975.hp2 NA18983.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0128 others(6): Show a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0002g0131 a0001c0001t0003g0034	9	152	0.0592	-50	c.376 others(69): Show c.376+18828_376+18877delATATATATATATATATATATATATAT ATATATATATATATATATATATAT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMLG_chr5_134733548_134757157	134749992	ACTGCACT others(43): Show ACTGCACTTGGCCTGAAGGCCTGTTTTTAATTTTACTTCCTCTGAAGTCC T	A A	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0068 a0002c0002t0001g0068	1	366	0.0027	-50	c.700 others(65): Show c.700-765_700-716delTGCACTTGGCCTGAAGGCCTGTTTTTAATT TTACTTCCTCTGAAGTCCTC	CAMLG	ENSG00000164615.6	transcript	ENST00000297156.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
CANT1_chr17_78986716_79014764	79004086	AGGGGAGT others(43): Show AGGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGAGGAGTT G	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18906.hp2 HG02559.hp1 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0054 a0001c0003t0006g0054	2	388	0.0052	-50	c.-14 others(69): Show c.-147+5528_-147+5577delCAACTCCTCTCCCTAACTCCCCTCTC CCTAACTCCCCTCCCTAACTCCCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CAPN15_chr16_522712_559636	551228	AGTGAGGG others(43): Show AGTGAGGGTCCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCGGTC G	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0101 a0001c0003t0001g0101	1	353	0.0028	-50	c.206 others(65): Show c.2067-66_2067-17delTCCCCGGTCGGTGAGGGTCCCCTGTCGGTG AGGGTCCCGGTCGGTGAGGG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN1_chr11_65176928_65217006	65213393	GAAGGGTA others(43): Show GAAGGGTAAGCAGCTGTAAACACTGCATCCCATTATTCTGAACTCTCAGC A	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0253 a0001c0002t0001g0253	1	392	0.0026	-50	c.21 others(61): Show c.2108_*2157delAAGGGTAAGCAGCTGTAAACACTGCATCCCATTA TTCTGAACTCTCAGCA	CAPN1	ENSG00000014216.16	transcript	ENST00000279247.11	protein_coding		1388		chr11	TogoVar
CAPN5_chr11_77061971_77131155	77098782	ACCCCCCA others(43): Show ACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC C	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0207 a0001c0002t0007g0207	1	376	0.0027	-50	c.297 others(67): Show c.297+4990_297+5039delTGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCCACCTCCCTCCCGGA	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN9_chr1_230742388_230806989	230751585	CAAAGAAA others(43): Show CAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAA G	C C	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0066 a0001c0005t0001g0067 a0001c0005t0001g0066 a0001c0005t0001g0067	2	283	0.0071	-50	c.214 others(67): Show c.214-3726_214-3677delGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPZA2_chr7_116857587_116927049	116890555	TATATATA others(43): Show TATATATATATATACACATATATATATATATATATATATATATACACACA C	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19089.hp1 HG01884.hp1 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0018 a0001c0002t0003g0081 a0001c0002t0003g0018 a0001c0002t0003g0081	2	342	0.0058	-50	c.103 others(67): Show c.103+2367_104-2388delTATATATATATACACATATATATATATA TATATATATATATACACACACA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116890557	TATATATA others(43): Show TATATATATATACACATATATATATATATATATATATATATACACACACA C	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00609.hp2 others(60): Show HG00099.hp2 HG00408.hp2 HG00609.hp2 HG00621.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01123.hp1 HG01255.hp1 HG01496.hp2 HG01952.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp2 HG02083.hp1 HG02273.hp1 HG02300.hp1 HG02523.hp2 HG02735.hp2 HG03491.hp2 HG03654.hp1 HG03669.hp2 HG03710.hp2 NA18612.hp2 NA18943.hp2 NA18945.hp1 NA18949.hp1 NA18951.hp1 NA18954.hp2 NA18956.hp2 NA18960.hp1 NA18963.hp1 NA18966.hp2 NA18970.hp2 NA18973.hp1 NA18974.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18985.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA19001.hp1 NA19003.hp1 NA19004.hp2 NA19006.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19058.hp2 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19075.hp1 NA19076.hp2 NA19078.hp1 NA19080.hp2 NA19082.hp2 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 others(4): Show a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0002t0017 a0001c0002t0040 a0001c0002t0041 a0001c0002t0042	a0001c0002t0003g0002 a0001c0002t0003g0021 a0001c0002t0003g0022 others(59): Show a0001c0002t0003g0002 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0023 a0001c0002t0003g0025 a0001c0002t0003g0026 a0001c0002t0003g0027 a0001c0002t0003g0028 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0031 a0001c0002t0003g0032 a0001c0002t0003g0033 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0045 a0001c0002t0003g0046 a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0051 a0001c0002t0003g0052 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0003g0058 a0001c0002t0003g0059 a0001c0002t0003g0060 a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0003g0070 a0001c0002t0003g0071 a0001c0002t0003g0072 a0001c0002t0003g0073 a0001c0002t0003g0074 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0078 a0001c0002t0003g0079 a0001c0002t0003g0080 a0001c0002t0003g0082 a0001c0002t0003g0086 a0001c0002t0003g0337 a0001c0002t0006g0064 a0001c0002t0006g0067 a0001c0002t0006g0083 a0001c0002t0006g0084 a0001c0002t0006g0087 a0001c0002t0008g0024 a0001c0002t0008g0042 a0001c0002t0008g0043 a0001c0002t0008g0050 a0001c0002t0017g0034 a0001c0002t0040g0063 a0001c0002t0041g0044 a0001c0002t0042g0338	63	326	0.1933	-50	c.103 others(67): Show c.103+2369_104-2386delTATATATATACACATATATATATATATA TATATATATATACACACACACA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASP3_chr4_184622696_184654447	184653022	GGGAAAGA others(43): Show GGGAAAGAAGAGGGAGGGAGGAAGGAAGGAAGGAAGAAGGGAAGGAAGGA A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03471.hp1 HG03516.hp2 others(2): Show HG03209.hp1 HG03471.hp1 HG03516.hp2 HG06807.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 a0001c0001t0003 a0001c0001t0004 a0001c0001t0017	a0001c0001t0003g0091 a0001c0001t0004g0056 a0001c0001t0004g0085 others(2): Show a0001c0001t0003g0091 a0001c0001t0004g0056 a0001c0001t0004g0085 a0001c0001t0004g0099 a0001c0001t0017g0133	5	364	0.0137	-50	c.-38 others(61): Show c.-3860_-3811delTTCCTTCCTTCCCTTCTTCCTTCCTTCCTTCCTC CCTCCCTCTTCTTTCC	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding		3576		chr4	TogoVar
CATSPERG_chr19_38330830_38375943	38338243	GGTTCACA others(43): Show GGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG C	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0217 a0001c0002t0001g0217	1	374	0.0027	-50	c.324 others(65): Show c.324+599_324+648delTTCACACCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCG	CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	3/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERG_chr19_38330830_38375943	38344661	CCATACCT others(43): Show CCATACCTGTACATACATATATAGTACATACCTGTACATACATATATAGT A	C C	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG03130.hp2 HG03516.hp1 others(3): Show HG02293.hp2 HG03130.hp2 HG03516.hp1 HG03942.hp2 NA19043.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0013 others(1): Show a0001c0001 a0001c0008 a0001c0013 a0001c0015	a0001c0001t0001 a0001c0008t0001 a0001c0013t0001 others(1): Show a0001c0001t0001 a0001c0008t0001 a0001c0013t0001 a0001c0015t0001	a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0008t0001g0049 others(3): Show a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0008t0001g0049 a0001c0008t0001g0050 a0001c0013t0001g0205 a0001c0015t0001g0212	6	182	0.0330	-50	c.669 others(65): Show c.669+416_669+465delGTACATACCTGTACATACATATATAGTACA TACCTGTACATACATATATA	CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	6/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAV1_chr7_116520036_116566179	116555508	GAAAGAAA others(43): Show GAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGA A	G G	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0242 a0001c0001t0004g0242	1	325	0.0031	-50	c.196 others(67): Show c.196-3436_196-3387delAAGAAAGAAAGAGAGAGAGAGAGAGAGA GAGAGAGAAAGAAAGAAAGAAA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC126_chr7_23592382_23649708	23637274	CCGGCCAG others(43): Show CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCC T	C C	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19079.hp1 NA18944.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0158 a0001c0001t0001g0110 a0001c0001t0001g0158	2	378	0.0053	-50	c.239 others(67): Show c.239-5656_239-5607delCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGATCAGCCCCCCGCCT	CCDC126	ENSG00000169193.12	transcript	ENST00000307471.8	protein_coding	3/3			chr7	TogoVar
CCDC30_chr1_42458286_42662190	42575366	TTGGCTGG others(43): Show TTGGCTGGGTGCGGTGGCTCACACCCGTAATCCCAGCACTTTGGGAGGCC G	T T	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA19004.hp1 NA19084.hp1 HG02015.hp1 NA19004.hp1 NA19084.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0016 a0002c0003t0003 a0002c0003t0016	a0002c0003t0003g0013 a0002c0003t0003g0014 a0002c0003t0016g0022 a0002c0003t0003g0013 a0002c0003t0003g0014 a0002c0003t0016g0022	3	322	0.0093	-50	c.132 others(69): Show c.1321-1653_1321-1604delTGGCTGGGTGCGGTGGCTCACACCCG TAATCCCAGCACTTTGGGAGGCCG	CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	11/20			chr1	TogoVar
CCDC73_chr11_32597721_32799662	32755641	GTGTATAT others(43): Show GTGTATATATATATCTCCATATATATGTGTATATATATATCTCCATATAT A	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02886.hp2 HG02895.hp2 others(8): Show HG02280.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG03098.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp2 NA18992.hp1 NA19070.hp1 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0001 a0001c0002t0001 a0001c0007t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0011 others(8): Show a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0022 a0001c0007t0001g0020	11	225	0.0489	-50	c.135 others(67): Show c.135+4418_135+4467delTATATATGGAGATATATATATACACATA TATATGGAGATATATATATACA	CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17			chr11	TogoVar
CCDC77_chr12_396644_447642	415274	TAACATAA others(43): Show TAACATAATATTATGTTAATATAATCAACATAATATTATGTTAATATAAT C	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0387 a0002c0002t0001g0387	1	410	0.0024	-50	c.271 others(67): Show c.271-3134_271-3085delTATGTTAATATAATCAACATAATATTAT GTTAATATAATCAACATAATAT	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC88A_chr2_55282842_55424856	55384550	TGTATATA others(43): Show TGTATATATACACATATATACGTATATATGTGTATATATACACATATATA C	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0010 a0001c0001t0026g0010	1	304	0.0033	-50	c.273 others(67): Show c.273+4178_273+4227delGTATATATGTGTATATATACACATATAT ACGTATATATGTGTATATATAC	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	3/32			chr2	TogoVar
CCDC91_chr12_28185456_28555166	28441605	ATATATAT others(43): Show ATATATATATATATATCTCATATGTGTATATATATCTCTCTCTCATATGT G	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0204 a0009c0010t0001g0204	1	240	0.0042	-50	c.763 others(67): Show c.763-8542_763-8493delATCTCATATGTGTATATATATCTCTCTC TCATATGTGTATATATATATAT	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCL3_chr17_36083256_36095143	36091038	ATATATAT others(43): Show ATATATATATATATTTGTACTATATATACATGTATTTGTACATATACACA T	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	380	0.0026	-50	c.-10 others(60): Show c.-1030_-981delATGTGTATATGTACAAATACATGTATATATAGTAC AAATATATATATATA	CCL3	ENSG00000277632.2	transcript	ENST00000613922.2	protein_coding		896		chr17	TogoVar
CCND1_chr11_69636156_69659474	69640425	ATTTTATT others(43): Show ATTTTATTTTATTTTTTGAGCGAGCGCATGCTAAGCTGAAATCCCTTTAA C	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0050 a0001c0002t0016g0050	1	410	0.0024	-50	c.-88 others(59): Show c.-888_-839delTTTTATTTTATTTTTTGAGCGAGCGCATGCTAAGCT GAAATCCCTTTAAC	CCND1	ENSG00000110092.4	transcript	ENST00000227507.3	protein_coding		730		chr11	TogoVar
CCND1_chr11_69636156_69659474	69647853	GGATGTGG others(43): Show GGATGTGGAGCCTCAGATACCGAGTGCTTCCCTTCAGGCCGGGCCGCTTG C	G G	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	410	0.0024	-50	c.575 others(64): Show c.575-140_575-91delGATGTGGAGCCTCAGATACCGAGTGCTTCCC TTCAGGCCGGGCCGCTTGC	CCND1	ENSG00000110092.4	transcript	ENST00000227507.3	protein_coding	3/4			chr11	TogoVar
CCNY_chr10_35331509_35577667	35491857	ACCCGCCT others(43): Show ACCCGCCTCGGCCCTCCAAAGTGCTGGGATTACAGGTGTGAGCGACCACG C	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	294	0.0034	-50	c.229 others(67): Show c.229+8382_229+8431delCGCCTCGGCCCTCCAAAGTGCTGGGATT ACAGGTGTGAGCGACCACGCCC	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CD300A_chr17_74461634_74489794	74465753	TGTGTGTT others(43): Show TGTGTGTTTGTGAATGTGTGTGGGTGAGTGTTTGTGTGAGTGTGTATGTG A	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 NA18977.hp2 NA19009.hp2 HG02523.hp2 NA18977.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0137 a0001c0001t0001g0149 a0001c0001t0001g0150	3	420	0.0071	-50	c.-95 others(59): Show c.-950_-901delGTGTGTTTGTGAATGTGTGTGGGTGAGTGTTTGTGT GAGTGTGTATGTGA	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding		880		chr17	TogoVar
CD3G_chr11_118339344_118360161	118355430	CGTATATG others(43): Show CGTATATGTGTATATATACACATATACGTATATGTATATATACATATATG T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	-50	c.23 others(61): Show c.2331_*2380delGTATATGTGTATATATACACATATACGTATATGT ATATATACATATATGT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		270		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355540	CATATGTA others(43): Show CATATGTATATATACACATATACACATATGTATATATACACATATACACA T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00735.hp2 HG01106.hp1 others(3): Show HG00408.hp2 HG00735.hp2 HG01106.hp1 NA18944.hp1 NA18981.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0057 a0001c0001t0003g0059 a0001c0001t0003g0014 a0001c0001t0003g0057 a0001c0001t0003g0059	6	440	0.0136	-50	c.24 others(61): Show c.2441_*2490delATATGTATATATACACATATACACATATGTATAT ATACACATATACACAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		380		chr11	TogoVar
CD82_chr11_44560663_44625358	44570232	CTGGCTGC others(43): Show CTGGCTGCCTTTCCCAAGCCCCTCATTGCCCTTCACCTTCTCCTCTGTGC T	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0320 a0001c0001t0004g0320	1	370	0.0027	-50	c.-10 others(69): Show c.-103+4549_-103+4598delGCTGCCTTTCCCAAGCCCCTCATTGC CCTTCACCTTCTCCTCTGTGCTTG	CD82	ENSG00000085117.12	transcript	ENST00000227155.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr11	TogoVar

Search by Variant

Search

Search Results