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
CAPN12_chr19_38725192_38749474	38735738	GGGGGTTC others(12): Show GGGGGTTCTGGGGGCGGGGC	G G	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0263 a0001c0001t0003g0263	1	340	0.0029	-19	c.158 others(36): Show c.1584-213_1584-195delGCCCCGCCCCCAGAACCCC		CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20						chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735808	GGGGGTTC others(12): Show GGGGGTTCTGGGGGCGGGGC	G G	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	339	0.0029	-19	c.158 others(36): Show c.1583+283_1584-265delGCCCCGCCCCCAGAACCCC		CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20						chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735823	GGGGCGGG others(12): Show GGGGCGGGGGTTCTGGGGGC	G G	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0164 a0001c0002t0002g0164	1	337	0.0030	-19	c.158 others(36): Show c.1583+268_1584-280delGCCCCCAGAACCCCCGCCC		CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20						chr19	TogoVar
CAPN13_chr2_30717771_30812446	30759052	TTCCCTCC others(12): Show TTCCCTCCCTCCCTCCCTCC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0147 a0001c0002t0002g0147	1	312	0.0032	-19	c.775 others(34): Show c.775-934_775-916delGGAGGGAGGGAGGGAGGGA		CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	7/22						chr2	TogoVar
CAPN1_chr11_65176928_65217006	65215764	AAACGAGT others(12): Show AAACGAGTGAGTGAGTGAGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0035	1	392	0.0026	-19	c.44 others(30): Show c.4479_*4497delAACGAGTGAGTGAGTGAGT		CAPN1	ENSG00000014216.16	transcript	ENST00000279247.11	protein_coding					3759		chr11	TogoVar
CAPN1_chr11_65176928_65217006	65215900	GGGTGGGC others(12): Show GGGTGGGCGAGCGAGTGAGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0266 a0001c0002t0001g0266	1	392	0.0026	-19	c.46 others(30): Show c.4615_*4633delGGTGGGCGAGCGAGTGAGC		CAPN1	ENSG00000014216.16	transcript	ENST00000279247.11	protein_coding					3895		chr11	TogoVar
CAPN1_chr11_65176928_65217006	65215913	AGTGAGCG others(12): Show AGTGAGCGGGTGGGCGAGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0254 a0001c0002t0001g0254	1	384	0.0026	-19	c.46 others(30): Show c.4628_*4646delGTGAGCGGGTGGGCGAGCG		CAPN1	ENSG00000014216.16	transcript	ENST00000279247.11	protein_coding					3908		chr11	TogoVar
CAPN9_chr1_230742388_230806989	230746224	CTTCTCTC others(12): Show CTTCTCTCTCTCTCTTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01106.hp1 HG01168.hp1 others(31): Show HG00639.hp2 HG01106.hp1 HG01168.hp1 HG01243.hp2 HG01891.hp1 HG01978.hp2 HG02004.hp2 HG02055.hp1 HG02129.hp1 HG02145.hp1 HG02148.hp2 HG02273.hp2 HG02300.hp2 HG02602.hp2 HG02698.hp2 HG02922.hp2 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03669.hp2 HG04228.hp2 NA18522.hp1 NA18959.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18993.hp1 NA18999.hp1 NA19063.hp2 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0013 a0020	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0002c0013 a0003c0004 a0004c0007 a0013c0026 a0020c0038	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(6): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0002c0013t0001 a0002c0013t0002 a0003c0004t0001 a0004c0007t0002 a0013c0026t0001 a0020c0038t0001	a0001c0001t0001g0061 a0001c0003t0001g0073 a0001c0005t0001g0052 others(31): Show a0001c0001t0001g0061 a0001c0003t0001g0073 a0001c0005t0001g0052 a0001c0005t0001g0053 a0001c0005t0001g0054 a0001c0005t0001g0059 a0001c0005t0001g0060 a0001c0005t0001g0062 a0001c0005t0001g0063 a0001c0005t0001g0064 a0001c0005t0001g0066 a0001c0005t0001g0067 a0001c0005t0001g0068 a0001c0005t0001g0069 a0001c0005t0001g0070 a0001c0005t0001g0071 a0001c0005t0001g0072 a0001c0005t0001g0075 a0001c0005t0001g0076 a0001c0005t0001g0077 a0001c0005t0001g0078 a0001c0005t0001g0079 a0001c0005t0001g0080 a0001c0005t0001g0081 a0001c0005t0001g0082 a0001c0005t0001g0083 a0002c0013t0001g0361 a0002c0013t0002g0161 a0003c0004t0001g0055 a0003c0004t0001g0056 a0003c0004t0001g0057 a0004c0007t0002g0074 a0013c0026t0001g0065 a0020c0038t0001g0058	34	391	0.0870	-19	c.-12 others(30): Show c.-1272_-1254delTTCTCTCTCTCTCTTTTCT		CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding					1163		chr1	TogoVar
CAPRIN1_chr11_34046731_34107610	34103733	CACAAAAA others(12): Show CACAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG03225.hp2 NA19043.hp1 HG02615.hp1 HG03225.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0029 a0001c0001t0003g0032 a0001c0001t0003g0014 a0001c0001t0003g0029 a0001c0001t0003g0032	3	220	0.0136	-19	c.43 others(30): Show c.4367_*4385delACAAAAAAAAAAAAAAAAA		CAPRIN1	ENSG00000135387.21	transcript	ENST00000341394.9	protein_coding					1124		chr11	TogoVar
CAPRIN2_chr12_30704553_30759951	30754076	CAACATTC others(12): Show CAACATTCTTTTATAGCTCT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01361.hp1 HG01891.hp1 others(17): Show HG01074.hp2 HG01361.hp1 HG01891.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02738.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03516.hp2 HG03669.hp2 NA20129.hp2 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0045 others(8): Show a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0237 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258	20	376	0.0532	-19	c.-39 others(34): Show c.-39-536_-39-518delAGAGCTATAAAAGAATGTT		CAPRIN2	ENSG00000110888.19	transcript	ENST00000695402.1	protein_coding	1/18						chr12	TogoVar
CAPS2_chr12_75270979_75335324	75311705	AAAAAAAC others(12): Show AAAAAAACAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0255 a0001c0001t0003g0255	1	361	0.0028	-19	c.545 others(36): Show c.545+1124_545+1142delGTTTTTTTTTTTGTTTTTT		CAPS2	ENSG00000180881.21	transcript	ENST00000699294.1	protein_coding	7/16						chr12	TogoVar
CAPZA1_chr1_112614832_112676616	112660581	AGAAGTAG others(12): Show AGAAGTAGATTTTTAATGCT	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	366	0.0027	-19	c.585 others(34): Show c.585+805_585+823delAGTAGATTTTTAATGCTGA		CAPZA1	ENSG00000116489.13	transcript	ENST00000263168.4	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPZA2_chr7_116857587_116927049	116859903	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02280.hp2 HG02074.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0003 a0001c0001t0011 a0001c0002t0003	a0001c0001t0011g0012 a0001c0002t0003g0058 a0001c0001t0011g0012 a0001c0002t0003g0058	2	352	0.0057	-19	c.-27 others(30): Show c.-2708_-2690delTTCTTTCTTTCTTTCTTTC		CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding					2683		chr7	TogoVar
CAPZB_chr1_19333775_19490539	19404355	CCAAATTG others(12): Show CCAAATTGGTAAAACCGCAT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	362	0.0028	-19	c.93+ others(36): Show c.93+15287_93+15305delATGCGGTTTTACCAATTTG		CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	2/8						chr1	TogoVar
CARD11_chr7_2901142_3048867	2933704	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0023 a0001c0004t0002g0023	1	310	0.0032	-19	c.151 others(36): Show c.1518+730_1518+748delAAAGAAAGAAAGAAAGAAA		CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	10/24						chr7	TogoVar
CARD14_chr17_80165030_80214331	80175952	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(58): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00558.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01192.hp2 HG01256.hp1 HG01258.hp1 HG01891.hp1 HG01943.hp1 HG01952.hp2 HG02071.hp1 HG02129.hp2 HG02135.hp1 HG02257.hp1 HG02280.hp2 HG02486.hp2 HG02615.hp1 HG02630.hp2 HG02895.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03491.hp1 HG03516.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp2 NA18945.hp2 NA18956.hp2 NA18960.hp2 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18982.hp2 NA18984.hp2 NA18989.hp1 NA18993.hp2 NA19001.hp1 NA19003.hp1 NA19010.hp1 NA19030.hp2 NA19043.hp1 NA19066.hp1 NA19074.hp2 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0013 a0020 a0023 a0027	a0001c0001 a0001c0012 a0002c0002 others(17): Show a0001c0001 a0001c0012 a0002c0002 a0002c0005 a0002c0017 a0002c0046 a0003c0006 a0003c0032 a0003c0044 a0004c0003 a0004c0008 a0005c0014 a0006c0009 a0007c0011 a0008c0018 a0009c0026 a0013c0035 a0020c0059 a0023c0049 a0027c0058	a0001c0001t0002 a0001c0012t0001 a0002c0002t0001 others(23): Show a0001c0001t0002 a0001c0012t0001 a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 a0002c0017t0001 a0002c0046t0001 a0003c0006t0002 a0003c0006t0025 a0003c0032t0001 a0003c0044t0006 a0004c0003t0001 a0004c0003t0017 a0004c0008t0001 a0004c0008t0002 a0005c0014t0002 a0006c0009t0001 a0006c0009t0006 a0006c0009t0012 a0007c0011t0003 a0008c0018t0001 a0009c0026t0004 a0013c0035t0001 a0020c0059t0024 a0023c0049t0004 a0027c0058t0001	a0001c0001t0002g0007 a0001c0001t0002g0092 a0001c0001t0002g0101 others(55): Show a0001c0001t0002g0007 a0001c0001t0002g0092 a0001c0001t0002g0101 a0001c0001t0002g0107 a0001c0001t0002g0131 a0001c0001t0002g0149 a0001c0012t0001g0094 a0001c0012t0001g0111 a0002c0002t0001g0006 a0002c0002t0001g0104 a0002c0002t0001g0108 a0002c0002t0001g0112 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0122 a0002c0002t0001g0147 a0002c0002t0001g0151 a0002c0002t0002g0093 a0002c0005t0001g0121 a0002c0017t0001g0100 a0002c0017t0001g0119 a0002c0046t0001g0133 a0003c0006t0002g0105 a0003c0006t0002g0115 a0003c0006t0002g0148 a0003c0006t0025g0363 a0003c0032t0001g0114 a0003c0044t0006g0129 a0004c0003t0001g0099 a0004c0003t0001g0120 a0004c0003t0001g0128 a0004c0003t0001g0135 a0004c0003t0017g0118 a0004c0008t0001g0150 a0004c0008t0002g0123 a0005c0014t0002g0091 a0006c0009t0001g0103 a0006c0009t0001g0113 a0006c0009t0001g0137 a0006c0009t0001g0245 a0006c0009t0006g0005 a0006c0009t0012g0006 a0007c0011t0003g0010 a0007c0011t0003g0248 a0007c0011t0003g0249 a0007c0011t0003g0250 a0007c0011t0003g0251 a0007c0011t0003g0253 a0008c0018t0001g0097 a0008c0018t0001g0102 a0009c0026t0004g0042 a0009c0026t0004g0106 a0009c0026t0004g0140 a0013c0035t0001g0109 a0013c0035t0001g0110 a0020c0059t0024g0134 a0023c0049t0004g0252 a0027c0058t0001g0095	61	90	0.6778	-19	c.-36 others(38): Show c.-366-2534_-366-2516delTTTTTTTTTTTTTTTTTTT		CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
CARHSP1_chr16_8847947_8874006	8861158	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02040.hp2 HG02155.hp1 others(6): Show HG00408.hp1 HG02040.hp2 HG02155.hp1 NA18971.hp2 NA18982.hp1 NA19007.hp1 NA19066.hp2 NA19077.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0040 a0001c0001t0003 a0001c0001t0040	a0001c0001t0003g0013 a0001c0001t0003g0044 a0001c0001t0003g0217 others(5): Show a0001c0001t0003g0013 a0001c0001t0003g0044 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0249 a0001c0001t0040g0221	9	17	0.5294	-19	c.-7- others(34): Show c.-7-1842_-7-1824delAAAAAAAAAAAAAAAAAAA		CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	1/3						chr16	TogoVar
CARNMT1_chr9_74975790_75033293	75006350	CCTAATGC others(12): Show CCTAATGCCCCTTTTCCAGG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00597.hp2 others(43): Show HG00323.hp2 HG00438.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG01192.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01928.hp2 HG01943.hp2 HG01993.hp1 HG02015.hp1 HG02074.hp1 HG02083.hp1 HG02165.hp2 HG02293.hp1 HG02523.hp1 HG02630.hp1 HG02970.hp1 HG03492.hp2 HG03669.hp1 HG03704.hp1 HG03942.hp2 NA18940.hp2 NA18944.hp2 NA18947.hp1 NA18951.hp2 NA18953.hp2 NA18965.hp1 NA18968.hp1 NA18979.hp1 NA18983.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18995.hp1 NA19002.hp2 NA19006.hp1 NA19057.hp2 NA19066.hp2 NA19076.hp2 NA19077.hp2 NA19079.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0024 a0001c0001t0002g0002 a0001c0001t0002g0025 others(34): Show a0001c0001t0001g0024 a0001c0001t0002g0002 a0001c0001t0002g0025 a0001c0001t0002g0040 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0237 a0001c0001t0002g0240	46	364	0.1264	-19	c.591 others(36): Show c.591-6499_591-6481delCCTGGAAAAGGGGCATTAG		CARNMT1	ENSG00000156017.13	transcript	ENST00000376834.8	protein_coding	3/7						chr9	TogoVar
CARNS1_chr11_67410678_67430604	67427073	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01884.hp2 HG01934.hp1 others(45): Show HG01167.hp1 HG01884.hp2 HG01934.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0012	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0006 a0002c0007 a0003c0009 a0012c0015	a0001c0001t0023 a0001c0003t0012 a0001c0004t0012 others(9): Show a0001c0001t0023 a0001c0003t0012 a0001c0004t0012 a0002c0002t0002 a0002c0006t0002 a0002c0006t0011 a0002c0006t0021 a0002c0007t0002 a0002c0007t0022 a0003c0009t0002 a0003c0009t0030 a0012c0015t0011	a0001c0001t0023g0029 a0001c0003t0012g0003 a0001c0003t0012g0019 others(22): Show a0001c0001t0023g0029 a0001c0003t0012g0003 a0001c0003t0012g0019 a0001c0004t0012g0010 a0002c0002t0002g0013 a0002c0002t0002g0024 a0002c0002t0002g0034 a0002c0002t0002g0038 a0002c0006t0002g0008 a0002c0006t0002g0011 a0002c0006t0002g0052 a0002c0006t0002g0054 a0002c0006t0011g0008 a0002c0006t0021g0011 a0002c0007t0002g0012 a0002c0007t0002g0023 a0002c0007t0002g0035 a0002c0007t0002g0036 a0002c0007t0002g0037 a0002c0007t0022g0023 a0003c0009t0002g0017 a0003c0009t0002g0031 a0003c0009t0002g0032 a0003c0009t0030g0030 a0012c0015t0011g0059	48	88	0.5455	-19	c.24 others(30): Show c.2473_*2491delTTTTTTTTTTTTTTTTTTT		CARNS1	ENSG00000172508.11	transcript	ENST00000687366.1	protein_coding					1470		chr11	TogoVar
CASK_chrX_41509934_41928554	41510413	ATATATAT others(12): Show ATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	162	0.0062	-19	c.99 others(31): Show c.9988_*10006delATATATATATATATATATA		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding					4520		chrX	TogoVar
CAST_chr5_96657376_96779683	96752550	ATAACCTC others(12): Show ATAACCTCAGGGATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19010.hp1 HG03225.hp2 NA19010.hp1	a0002 a0002	a0002c0004 a0002c0006 a0002c0004 a0002c0006	a0002c0004t0001 a0002c0006t0001 a0002c0004t0001 a0002c0006t0001	a0002c0004t0001g0050 a0002c0006t0001g0005 a0002c0004t0001g0050 a0002c0006t0001g0005	2	72	0.0278	-19	c.152 others(38): Show c.1525-1508_1525-1490delAACCTCAGGGATTTTTTTT		CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	20/31					INFO_REALIGN_3_PRIME	chr5	TogoVar
CATSPERB_chr14_91575698_91737086	91707575	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00438.hp1 others(196): Show HG00140.hp1 HG00140.hp2 HG00438.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0004 a0003c0006 a0004c0008 a0005c0009 a0006c0010 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0005t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0003c0004t0001 a0003c0006t0002 a0004c0008t0001 a0005c0009t0002 a0006c0010t0001 a0007c0007t0001	a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0030 others(196): Show a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0156 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0263 a0001c0001t0002g0009 a0001c0001t0002g0022 a0001c0001t0002g0034 a0001c0001t0002g0041 a0001c0001t0002g0065 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0108 a0001c0001t0002g0118 a0001c0001t0002g0207 a0001c0001t0002g0232 a0001c0001t0002g0246 a0001c0001t0002g0265 a0001c0001t0005g0007 a0001c0002t0001g0141 a0001c0002t0001g0143 a0001c0002t0001g0254 a0001c0002t0002g0054 a0001c0002t0002g0069 a0001c0002t0002g0076 a0001c0002t0002g0079 a0001c0002t0002g0085 a0001c0002t0002g0099 a0001c0002t0002g0103 a0001c0002t0002g0111 a0001c0002t0002g0116 a0001c0002t0002g0121 a0001c0002t0002g0123 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0133 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0166 a0001c0002t0002g0186 a0001c0002t0002g0188 a0001c0002t0002g0192 a0001c0002t0002g0194 a0001c0002t0002g0235 a0001c0002t0002g0240 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0264 a0001c0005t0002g0210 a0001c0005t0002g0212 a0002c0003t0001g0038 a0002c0003t0001g0040 a0002c0003t0001g0051 a0002c0003t0001g0062 a0002c0003t0001g0139 a0002c0003t0001g0142 a0002c0003t0001g0144 a0002c0003t0001g0145 a0002c0003t0001g0146 a0002c0003t0001g0147 a0002c0003t0001g0148 a0002c0003t0001g0149 a0002c0003t0001g0150 a0002c0003t0001g0151 a0002c0003t0002g0138 a0002c0003t0002g0140 a0002c0003t0002g0152 a0002c0003t0003g0266 a0002c0003t0003g0267 a0002c0003t0003g0268 a0002c0003t0003g0269 a0002c0003t0003g0270 a0003c0004t0001g0115 a0003c0004t0001g0193 a0003c0004t0001g0195 a0003c0004t0001g0255 a0003c0006t0002g0132 a0004c0008t0001g0048 a0005c0009t0002g0128 a0006c0010t0001g0126 a0007c0007t0001g0093	199	201	0.9901	-19	c.466 others(34): Show c.466+547_466+565delAAAAAAAAAAAAAAAAAAA		CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	6/26						chr14	TogoVar
CATSPERD_chr19_5715637_5783734	5746516	CCTCCCGG others(12): Show CCTCCCGGGTTCACACCATT	C C	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0182 a0002c0002t0001g0182	1	334	0.0030	-19	c.808 others(34): Show c.808+457_808+475delCCGGGTTCACACCATTCTC		CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	9/21					INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5751197	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02165.hp1 HG02280.hp1 others(5): Show HG01884.hp1 HG02165.hp1 HG02280.hp1 HG02647.hp2 HG03041.hp2 HG03130.hp1 HG03209.hp2 HG03516.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0003c0004 a0003c0005 others(1): Show a0001c0001 a0003c0004 a0003c0005 a0010c0008	a0001c0001t0001 a0001c0001t0002 a0003c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0003c0004t0001 a0003c0005t0001 a0010c0008t0001	a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0001g0099 others(5): Show a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0002g0057 a0001c0001t0002g0101 a0003c0004t0001g0097 a0003c0005t0001g0307 a0010c0008t0001g0008	8	19	0.4211	-19	c.988 others(34): Show c.988-423_988-405delAAAAAAAAAAAAAAAAAAA		CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	11/21					INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERG_chr19_38330830_38375943	38337293	AGGTGCTG others(12): Show AGGTGCTGTGGGCCCTGCTG	A A	frameshift_variant frameshift_variant	HIGH	HG01258.hp1 HG01258.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0001	a0008c0014t0001g0264 a0008c0014t0001g0264	1	374	0.0027	-19	c.61_ others(24): Show c.61_79delGTGCTGTGGGCCCTGCTGG	p.Val others(4): Show p.Val21fs	CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	2/29	121/3691	61/3480	21/1159		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAV1_chr7_116520036_116566179	116533338	AAAAATAA others(12): Show AAAAATAAAATAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00597.hp2 others(47): Show HG00280.hp1 HG00323.hp2 HG00597.hp2 HG00609.hp1 HG01928.hp2 HG01943.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02080.hp1 HG02145.hp1 HG02148.hp1 HG02280.hp1 HG02809.hp2 HG02970.hp1 HG03098.hp2 HG03491.hp1 HG03516.hp2 HG03579.hp1 HG04115.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18948.hp1 NA18953.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18967.hp2 NA18970.hp1 NA18979.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18998.hp1 NA18999.hp1 NA19003.hp2 NA19011.hp2 NA19055.hp2 NA19056.hp1 NA19059.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19076.hp2 NA19077.hp2 NA19083.hp2 NA19090.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0017 a0001c0002t0001 a0001c0003t0003	a0001c0001t0001g0223 a0001c0001t0002g0032 a0001c0001t0002g0033 others(42): Show a0001c0001t0001g0223 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0003g0023 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0116 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0003g0152 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0163 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0004g0153 a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0001t0006g0114 a0001c0001t0010g0231 a0001c0001t0010g0232 a0001c0001t0012g0048 a0001c0001t0017g0036 a0001c0002t0001g0199 a0001c0003t0003g0149 a0001c0003t0003g0151	50	340	0.1471	-19	c.195 others(36): Show c.195+6663_195+6681delTAAAATAAAATAAAATAAA		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV3_chr3_8728802_8751758	8736460	GCCAGGAG others(12): Show GCCAGGAGCCTGCGTCATGC	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0012 a0001c0010t0012	a0001c0010t0012g0068 a0001c0010t0012g0068	1	474	0.0021	-19	c.114 others(36): Show c.114+2476_114+2494delAGCCTGCGTCATGCCCAGG		CAV3	ENSG00000182533.7	transcript	ENST00000343849.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr3	TogoVar
CAVIN1_chr17_42397449_42428256	42410892	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG01192.hp1 others(15): Show HG00323.hp2 HG00735.hp2 HG01192.hp1 HG02109.hp1 HG02615.hp2 HG02738.hp2 HG03041.hp1 HG03453.hp1 HG03710.hp1 HG03927.hp1 HG04228.hp2 HG06807.hp2 NA18977.hp1 NA18982.hp2 NA18984.hp2 NA18989.hp1 NA19010.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0025 a0001c0001t0026 others(2): Show a0001c0001t0007 a0001c0001t0025 a0001c0001t0026 a0001c0002t0003 a0001c0002t0010	a0001c0001t0007g0004 a0001c0001t0007g0083 a0001c0001t0007g0084 others(10): Show a0001c0001t0007g0004 a0001c0001t0007g0083 a0001c0001t0007g0084 a0001c0001t0007g0086 a0001c0001t0007g0088 a0001c0001t0007g0094 a0001c0001t0025g0092 a0001c0001t0026g0093 a0001c0002t0003g0222 a0001c0002t0003g0223 a0001c0002t0010g0014 a0001c0002t0010g0234 a0001c0002t0010g0254	18	19	0.9474	-19	c.472 others(36): Show c.472-5523_472-5505delTTTTTTTTTTTTTTTTTTT		CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1						chr17	TogoVar
CAVIN1_chr17_42397449_42428256	42413558	CAAAAAGG others(12): Show CAAAAAGGGAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0028 a0001c0005t0028	a0001c0005t0028g0034 a0001c0005t0028g0034	1	320	0.0031	-19	c.472 others(36): Show c.472-8189_472-8171delTTTTTTTTTTTCCCTTTTT		CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1						chr17	TogoVar
CBFA2T2_chr20_33485096_33655030	33514271	GTGGTGCG others(12): Show GTGGTGCGATCTCGGCTCGC	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0282 a0001c0006t0007g0282	1	296	0.0034	-19	c.34+ others(36): Show c.34+23972_34+23990delGGTGCGATCTCGGCTCGCT		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33610747	GTATCCCA others(12): Show GTATCCCATCACTGGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0044 a0001c0004t0044	a0001c0004t0044g0078 a0001c0004t0044g0078	1	296	0.0034	-19	c.179 others(34): Show c.179-345_179-327delATCCCATCACTGGAAAGAT		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88954340	CCAGCCAA others(12): Show CCAGCCAAGGCTCCTGACCT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0098 a0001c0001t0025g0098	1	282	0.0035	-19	c.151 others(38): Show c.151+22298_151+22316delAGGTCAGGAGCCTTGGCTG		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88954379	CACCCAAG others(12): Show CACCCAAGACTCCTGACCCT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0267 a0001c0001t0024g0267	1	273	0.0037	-19	c.151 others(38): Show c.151+22259_151+22277delAGGGTCAGGAGTCTTGGGT		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88954913	CCCAAGGC others(12): Show CCCAAGGCTCCTGACCCCAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0099 a0001c0009t0007g0099	1	278	0.0036	-19	c.151 others(38): Show c.151+21725_151+21743delATGGGGTCAGGAGCCTTGG		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88954932	TCCAAGGC others(12): Show TCCAAGGCTCCTGACCCCAG	T T	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA19063.hp2 NA18964.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0122 a0001c0001t0001g0123	2	279	0.0072	-19	c.151 others(38): Show c.151+21706_151+21724delCTGGGGTCAGGAGCCTTGG		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88955046	GCCAAGGC others(12): Show GCCAAGGCTCCTGACCCTAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00642.hp2 others(33): Show HG00099.hp2 HG00140.hp2 HG00642.hp2 HG00738.hp2 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01255.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG02602.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG03017.hp1 HG03195.hp2 HG03579.hp2 HG03654.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18952.hp1 NA18994.hp2 NA19000.hp2 NA19002.hp2 NA19079.hp2 NA19085.hp2 NA21309.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0005 a0002c0004 others(1): Show a0001c0001 a0001c0005 a0002c0004 a0007c0019	a0001c0001t0001 a0001c0001t0009 a0001c0001t0031 others(4): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0031 a0001c0005t0012 a0001c0005t0028 a0002c0004t0001 a0007c0019t0001	a0001c0001t0001g0054 a0001c0001t0001g0066 a0001c0001t0001g0074 others(33): Show a0001c0001t0001g0054 a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0093 a0001c0001t0001g0118 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0191 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0236 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0258 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0009g0150 a0001c0001t0031g0248 a0001c0005t0012g0237 a0001c0005t0028g0196 a0002c0004t0001g0140 a0002c0004t0001g0141 a0007c0019t0001g0197	36	280	0.1286	-19	c.151 others(38): Show c.151+21592_151+21610delGTAGGGTCAGGAGCCTTGG		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88955109	ACTCCTGA others(12): Show ACTCCTGACCCCACCCAAGG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01361.hp2 HG02698.hp2 others(3): Show HG00735.hp2 HG01361.hp2 HG02698.hp2 HG03834.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0020 a0001c0001t0001 a0001c0001t0016 a0001c0001t0020	a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0261 others(3): Show a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0261 a0001c0001t0001g0265 a0001c0001t0016g0081 a0001c0001t0020g0259	6	278	0.0216	-19	c.151 others(38): Show c.151+21529_151+21547delCCTTGGGTGGGGTCAGGAG		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88955217	GCCAAGGC others(12): Show GCCAAGGCTCCTGACCCTAC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03239.hp1 HG00280.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0268 a0001c0001t0001g0014 a0001c0001t0001g0268	2	282	0.0071	-19	c.151 others(38): Show c.151+21421_151+21439delGTAGGGTCAGGAGCCTTGG		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88955451	ACTCCTGA others(12): Show ACTCCTGACCCCACCCAAGG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01361.hp2 HG02145.hp1 others(7): Show HG00735.hp2 HG01361.hp2 HG02145.hp1 HG02698.hp2 HG03209.hp1 HG03239.hp2 HG03834.hp2 HG04204.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0016 a0001c0001t0020 others(2): Show a0001c0001t0001 a0001c0001t0016 a0001c0001t0020 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0080 others(7): Show a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0097 a0001c0001t0001g0261 a0001c0001t0001g0265 a0001c0001t0016g0081 a0001c0001t0020g0259 a0001c0003t0001g0251 a0001c0003t0002g0252	10	281	0.0356	-19	c.151 others(38): Show c.151+21187_151+21205delCCTTGGGTGGGGTCAGGAG		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88955559	GCCAAGGC others(12): Show GCCAAGGCTCCTGACCCCAC	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	109	0.0092	-19	c.151 others(38): Show c.151+21079_151+21097delGTGGGGTCAGGAGCCTTGG		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88955670	TCACCCAA others(12): Show TCACCCAAGGCTCCTGACCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00733.hp2 others(23): Show HG00408.hp1 HG00408.hp2 HG00733.hp2 HG01069.hp1 HG01074.hp1 HG01106.hp2 HG01243.hp1 HG01257.hp2 HG01261.hp1 HG01433.hp1 HG01496.hp2 HG01884.hp1 HG02523.hp1 HG02622.hp1 HG02738.hp1 HG02738.hp2 HG03017.hp2 HG03209.hp2 HG03579.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp2 HG04184.hp2 HG04199.hp1 NA18522.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0021 a0001c0001 a0001c0015 a0001c0021	a0001c0001t0001 a0001c0001t0013 a0001c0001t0018 others(2): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0018 a0001c0015t0007 a0001c0021t0011	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0040 others(23): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0104 a0001c0001t0001g0116 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0159 a0001c0001t0001g0173 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0202 a0001c0001t0001g0215 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0262 a0001c0001t0001g0271 a0001c0001t0013g0002 a0001c0001t0018g0266 a0001c0015t0007g0103 a0001c0021t0011g0034	26	107	0.2430	-19	c.151 others(38): Show c.151+20968_151+20986delGGGTCAGGAGCCTTGGGTG		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88955803	CCACCCAA others(12): Show CCACCCAAGGCTCCTGACCT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0007 a0001c0015t0007	a0001c0015t0007g0103 a0001c0015t0007g0103	1	279	0.0036	-19	c.151 others(38): Show c.151+20835_151+20853delAGGTCAGGAGCCTTGGGTG		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88955939	CCCAAGGC others(12): Show CCCAAGGCTCCTGACCCCAG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02970.hp1 HG02572.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0001 a0001c0020t0029 a0001c0001t0001 a0001c0020t0029	a0001c0001t0001g0256 a0001c0020t0029g0115 a0001c0001t0001g0256 a0001c0020t0029g0115	2	282	0.0071	-19	c.151 others(38): Show c.151+20699_151+20717delCTGGGGTCAGGAGCCTTGG		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88955958	GCCAAGGC others(12): Show GCCAAGGCTCCTGACCCCGC	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG04204.hp1 HG03239.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0097 a0001c0001t0001g0069 a0001c0001t0001g0097	2	279	0.0072	-19	c.151 others(38): Show c.151+20680_151+20698delGCGGGGTCAGGAGCCTTGG		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CBLB_chr3_105650461_105874012	105829666	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp2 HG00741.hp2 others(27): Show HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01106.hp1 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01361.hp2 HG01884.hp1 HG01993.hp2 HG02004.hp1 HG02451.hp1 HG02572.hp2 HG02615.hp2 HG02723.hp2 HG02735.hp2 HG02896.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03471.hp1 HG03540.hp1 HG03669.hp1 NA18960.hp2 NA18977.hp1 NA18994.hp2 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0001c0019 a0002c0005 others(1): Show a0001c0002 a0001c0019 a0002c0005 a0006c0022	a0001c0002t0007 a0001c0002t0010 a0001c0002t0017 others(5): Show a0001c0002t0007 a0001c0002t0010 a0001c0002t0017 a0001c0002t0026 a0001c0019t0027 a0002c0005t0014 a0002c0005t0020 a0006c0022t0010	a0001c0002t0007g0005 a0001c0002t0007g0008 a0001c0002t0007g0009 others(27): Show a0001c0002t0007g0005 a0001c0002t0007g0008 a0001c0002t0007g0009 a0001c0002t0007g0013 a0001c0002t0007g0017 a0001c0002t0007g0018 a0001c0002t0007g0019 a0001c0002t0007g0020 a0001c0002t0007g0021 a0001c0002t0007g0024 a0001c0002t0007g0025 a0001c0002t0007g0026 a0001c0002t0007g0031 a0001c0002t0007g0032 a0001c0002t0010g0007 a0001c0002t0010g0016 a0001c0002t0010g0023 a0001c0002t0010g0027 a0001c0002t0010g0028 a0001c0002t0017g0034 a0001c0002t0017g0035 a0001c0002t0017g0036 a0001c0002t0026g0022 a0001c0019t0027g0029 a0002c0005t0014g0003 a0002c0005t0014g0010 a0002c0005t0014g0011 a0002c0005t0014g0012 a0002c0005t0020g0285 a0006c0022t0010g0015	30	37	0.8108	-19	c.419 others(38): Show c.419+23729_419+23747delTTTTTTTTTTTTTTTTTTT		CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	3/18						chr3	TogoVar
CBLC_chr19_44772890_44805652	44784950	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0048 a0001c0006t0001g0048	1	125	0.0080	-19	c.917 others(34): Show c.917+570_917+588delTTTTTTTTTTTTTTTTTTT		CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr19	TogoVar
CBLL2_chrX_22267913_22279461	22271960	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	5	0.2000	-19	c.-10 others(30): Show c.-1031_-1013delTTTTTTTTTTTTTTTTTTT		CBLL2	ENSG00000175809.6	transcript	ENST00000323684.4	protein_coding					952		chrX	TogoVar
CBL_chr11_119201339_119313149	119231431	CCTGTAAT others(12): Show CCTGTAATCCCAGCAAAGTG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02630.hp2 HG02723.hp2 others(4): Show HG02257.hp1 HG02630.hp2 HG02723.hp2 HG03516.hp1 NA18522.hp2 NA19240.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0008 a0001c0001t0010 a0001c0001t0047 others(1): Show a0001c0001t0008 a0001c0001t0010 a0001c0001t0047 a0003c0005t0008	a0001c0001t0008g0339 a0001c0001t0008g0340 a0001c0001t0008g0341 others(4): Show a0001c0001t0008g0339 a0001c0001t0008g0340 a0001c0001t0008g0341 a0001c0001t0010g0338 a0001c0001t0047g0344 a0003c0005t0008g0342 a0003c0005t0008g0343	7	362	0.0193	-19	c.196 others(35): Show c.196-1002_196-984delAAGTGCTGTAATCCCAGCA		CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
CBL_chr11_119201339_119313149	119264423	CTTCTCTT others(12): Show CTTCTCTTCTCTTCTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp2 HG01081.hp2 others(17): Show HG00140.hp1 HG00621.hp2 HG01081.hp2 HG02040.hp1 HG02976.hp1 HG03209.hp1 HG03471.hp1 HG04115.hp1 HG04228.hp1 NA18941.hp1 NA18950.hp2 NA18965.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA19012.hp1 NA19062.hp1 NA19066.hp2 NA19074.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0021 a0001c0001t0031 a0002c0003t0002	a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0296 others(17): Show a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0316 a0001c0001t0002g0336 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0354 a0001c0001t0004g0286 a0001c0001t0004g0312 a0001c0001t0014g0311 a0001c0001t0021g0010 a0001c0001t0021g0011 a0001c0001t0031g0270 a0002c0003t0002g0003	20	362	0.0552	-19	c.444 others(36): Show c.444-7292_444-7274delTTCTCTTCTCTTCTCTTCT		CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
CBX1_chr17_48065059_48106478	48080946	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18939.hp1 NA18945.hp2 others(6): Show HG02976.hp2 NA18939.hp1 NA18945.hp2 NA18946.hp2 NA18977.hp2 NA18991.hp2 NA19002.hp2 NA19010.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0010 a0001c0001t0001g0025 a0001c0001t0001g0320 others(4): Show a0001c0001t0001g0010 a0001c0001t0001g0025 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0005g0007	9	382	0.0236	-19	c.-37 others(36): Show c.-37-3924_-37-3906delATATATATATATATTTTTT		CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4						chr17	TogoVar

Search by Variant

Search

Search Results