regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 | 38736010 | G | GGGT | intron_variant | MODIFIER | HG01884.hp2 HG02155.hp2 HG02280.hp2 others(4): Show |
a0001a0005a0018 | a0001c0001a0001c0011a0005c0007others(1): Show | a0001c0001t0001a0001c0011t0003a0005c0007t0003others(1): Show | a0001c0001t0001g0089a0001c0001t0001g0241a0001c0011t0003g0260others(4): Show | 7 | 342 | 0.0205 | 3 | c.158 others(19): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38736012 | C | CGGG | intron_variant | MODIFIER | HG01261.hp2 HG01515.hp2 HG01517.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0004 | a0001c0001t0001g0086a0003c0005t0004g0018a0003c0005t0004g0019others(7): Show | 10 | 342 | 0.0292 | 3 | c.158 others(18): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38736026 | G | GTCA | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02818.hp1 others(3): Show |
a0001a0005a0018 | a0001c0001a0001c0011a0005c0007others(1): Show | a0001c0001t0001a0001c0011t0003a0005c0007t0003others(1): Show | a0001c0001t0001g0241a0001c0011t0003g0260a0001c0011t0003g0261others(3): Show | 6 | 342 | 0.0175 | 3 | c.158 others(18): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38739448 | C | CAAA | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG01099.hp1 others(20): Show |
a0001a0003a0005others(2): Show | a0001c0001a0003c0005a0005c0007others(2): Show | a0001c0001t0001a0001c0001t0003a0003c0005t0004others(3): Show | a0001c0001t0001g0241a0001c0001t0003g0307a0003c0005t0004g0018others(20): Show | 23 | 342 | 0.0673 | 3 | c.729 others(18): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 5/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38747105 | C | CAAA | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00609.hp1 others(43): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0006a0001c0013others(7): Show | a0001c0001t0001a0001c0001t0016a0001c0006t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0083others(34): Show | 46 | 342 | 0.1345 | 3 | c.-29 others(14): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 2632 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38749045 | T | TAAA | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02559.hp2 others(5): Show |
a0001 | a0001c0001a0001c0024 | a0001c0001t0001a0001c0001t0014a0001c0024t0001 | a0001c0001t0001g0047a0001c0001t0001g0049a0001c0001t0001g0050others(5): Show | 8 | 342 | 0.0234 | 3 | c.-48 others(14): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 4572 | chr19 | TogoVar | ||||||
CAPN13_chr2_30717771_30812446 | 30725119 | A | AAAT | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0002t0003others(2): Show | a0001c0001t0003g0009a0001c0001t0003g0036a0001c0001t0003g0043others(30): Show | 33 | 384 | 0.0859 | 3 | c.*31 others(20): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 22/22 | chr2 | TogoVar | ||||||
CAPN13_chr2_30717771_30812446 | 30745894 | A | ATTT | intron_variant | MODIFIER | HG00639.hp1 HG02055.hp1 HG02257.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0002a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0002g0126a0001c0001t0002g0301a0001c0001t0005g0158others(6): Show | 9 | 384 | 0.0234 | 3 | c.123 others(20): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 11/22 | chr2 | TogoVar | ||||||
CAPN14_chr2_31168056_31222515 | 31181529 | T | TTTA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(154): Show |
a0002a0003a0004others(14): Show | a0002c0002a0002c0004a0002c0012others(25): Show | a0002c0002t0001a0002c0002t0004a0002c0002t0012others(46): Show | a0002c0002t0001g0001a0002c0002t0001g0002a0002c0002t0001g0003others(140): Show | 157 | 326 | 0.4816 | 3 | c.164 others(20): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
CAPN14_chr2_31168056_31222515 | 31203367 | A | AGAT | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(26): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0004a0003c0005others(7): Show | a0001c0001t0001a0002c0004t0001a0002c0004t0009others(11): Show | a0001c0001t0001g0158a0001c0001t0001g0159a0002c0004t0001g0161others(26): Show | 29 | 326 | 0.0890 | 3 | c.226 others(18): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
CAPN14_chr2_31168056_31222515 | 31210751 | T | TATA | intron_variant | MODIFIER | HG01358.hp2 HG01516.hp2 HG01517.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0004a0001c0003t0003a0001c0003t0004others(3): Show | a0001c0001t0004g0284a0001c0001t0004g0286a0001c0003t0003g0287others(7): Show | 10 | 326 | 0.0307 | 3 | c.-52 others(20): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 1/21 | chr2 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 544715 | A | ACGT | intron_variant | MODIFIER | HG00438.hp2 HG01884.hp2 NA18959.hp1 |
a0001 | a0001c0004a0001c0009a0001c0052 | a0001c0004t0003a0001c0009t0002a0001c0052t0003 | a0001c0004t0003g0079a0001c0009t0002g0180a0001c0052t0003g0025 | 3 | 410 | 0.0073 | 3 | c.-22 others(20): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 544729 | A | ACGT | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00621.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0003a0001c0002t0002a0001c0002t0003others(13): Show | a0001c0001t0003g0208a0001c0002t0002g0069a0001c0002t0002g0177others(28): Show | 33 | 410 | 0.0805 | 3 | c.-22 others(20): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 544735 | C | CCGT | intron_variant | MODIFIER | HG01361.hp2 HG02080.hp2 HG02135.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0118a0001c0001t0002g0189a0001c0001t0002g0234others(7): Show | 10 | 410 | 0.0244 | 3 | c.-22 others(20): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 544760 | A | ACGT | intron_variant | MODIFIER | HG01099.hp2 HG01243.hp2 HG01361.hp2 others(17): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0250a0001c0001t0002g0189a0001c0001t0002g0305others(17): Show | 20 | 410 | 0.0488 | 3 | c.-22 others(20): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 544774 | A | ACGT | intron_variant | MODIFIER | HG01952.hp1 HG02970.hp2 HG03041.hp1 others(5): Show |
a0001a0002a0015 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0002others(3): Show | a0001c0001t0001g0118a0001c0001t0001g0301a0001c0002t0001g0171others(5): Show | 8 | 410 | 0.0195 | 3 | c.-22 others(20): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 544780 | T | TCGC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(94): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(29): Show | a0001c0001t0001g0014a0001c0001t0001g0078a0001c0001t0001g0084others(94): Show | 97 | 410 | 0.2366 | 3 | c.-22 others(20): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 544805 | A | ACGT | intron_variant | MODIFIER | HG01243.hp2 HG02132.hp2 HG02723.hp1 others(6): Show |
a0001a0012 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0002others(4): Show | a0001c0001t0001g0250a0001c0002t0001g0143a0001c0002t0001g0249others(6): Show | 9 | 410 | 0.0220 | 3 | c.-22 others(20): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 544811 | C | CCGT | intron_variant | MODIFIER | HG01069.hp1 HG01099.hp2 HG01256.hp1 others(17): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0002g0331a0001c0001t0002g0335a0001c0001t0002g0366others(16): Show | 20 | 410 | 0.0488 | 3 | c.-22 others(20): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 544819 | A | ACGT | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00609.hp2 others(41): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(15): Show | a0001c0001t0001g0203a0001c0001t0001g0246a0001c0001t0002g0189others(40): Show | 44 | 410 | 0.1073 | 3 | c.-22 others(20): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 544833 | A | ACGT | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp1 HG03579.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0002t0002a0001c0004t0002others(2): Show | a0001c0001t0002g0232a0001c0002t0002g0057a0001c0002t0002g0067others(5): Show | 8 | 410 | 0.0195 | 3 | c.-22 others(20): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 553180 | G | GCCC | intron_variant | MODIFIER | HG01346.hp1 HG02148.hp2 HG02293.hp1 others(18): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(13): Show | a0001c0001t0001g0129a0001c0001t0002g0142a0001c0001t0002g0232others(18): Show | 21 | 410 | 0.0512 | 3 | c.308 others(20): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN1_chr11_65176928_65217006 | 65193644 | C | CAAA | intron_variant | MODIFIER | HG02074.hp2 HG02738.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(3): Show | 6 | 394 | 0.0152 | 3 | c.116 others(22): Show |
CAPN1 | ENSG00000014216.16 | transcript | ENST00000279247.11 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CAPN1_chr11_65176928_65217006 | 65197888 | G | GAAA | intron_variant | MODIFIER | HG01358.hp1 HG01361.hp2 HG01433.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0075a0001c0001t0001g0076a0001c0001t0001g0085others(5): Show | 8 | 394 | 0.0203 | 3 | c.116 others(22): Show |
CAPN1 | ENSG00000014216.16 | transcript | ENST00000279247.11 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CAPN1_chr11_65176928_65217006 | 65200932 | C | CTTT | intron_variant | MODIFIER | HG02486.hp1 HG02572.hp2 HG02647.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0003c0005t0001 | a0001c0001t0001g0054a0001c0001t0001g0127a0001c0001t0001g0128others(5): Show | 9 | 394 | 0.0228 | 3 | c.116 others(22): Show |
CAPN1 | ENSG00000014216.16 | transcript | ENST00000279247.11 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CAPN1_chr11_65176928_65217006 | 65203872 | T | TTTA | intron_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG01192.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006a0001c0002t0001g0224a0001c0002t0001g0241others(3): Show | 12 | 394 | 0.0305 | 3 | c.116 others(20): Show |
CAPN1 | ENSG00000014216.16 | transcript | ENST00000279247.11 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CAPN2_chr1_223707539_223781018 | 223709661 | C | CAAA | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(77): Show |
a0001a0002a0005others(1): Show | a0001c0002a0001c0003a0001c0010others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(16): Show | a0001c0002t0001g0006a0001c0002t0001g0009a0001c0002t0001g0019others(76): Show | 80 | 378 | 0.2116 | 3 | c.-29 others(14): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2877 | chr1 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223730010 | C | CAAA | intron_variant | MODIFIER | HG00597.hp2 HG02080.hp1 HG03831.hp2 others(5): Show |
a0001a0003a0004 | a0001c0001a0003c0023a0004c0008 | a0001c0001t0009a0003c0023t0002a0004c0008t0004 | a0001c0001t0009g0333a0001c0001t0009g0344a0003c0023t0002g0110others(5): Show | 8 | 378 | 0.0212 | 3 | c.307 others(22): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN2_chr1_223707539_223781018 | 223737721 | G | GGTA | intron_variant | MODIFIER | HG00423.hp2 HG00733.hp1 HG00735.hp2 others(37): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0001t0005a0001c0002t0001others(13): Show | a0001c0001t0002g0152a0001c0001t0002g0203a0001c0001t0002g0229others(36): Show | 40 | 378 | 0.1058 | 3 | c.308 others(20): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | chr1 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223741468 | A | ATAT | intron_variant | MODIFIER | HG01192.hp1 HG02132.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0005a0001c0003t0001 | a0001c0001t0002g0291a0001c0001t0005g0287a0001c0003t0001g0358 | 3 | 378 | 0.0079 | 3 | c.308 others(20): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN2_chr1_223707539_223781018 | 223742518 | A | ATAT | intron_variant | MODIFIER | HG01891.hp1 HG02895.hp2 HG02897.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0187a0001c0001t0002g0223a0001c0001t0002g0224others(5): Show | 8 | 378 | 0.0212 | 3 | c.308 others(20): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN2_chr1_223707539_223781018 | 223742519 | T | TATA | intron_variant | MODIFIER | HG01071.hp2 HG02280.hp2 NA21309.hp2 |
a0001 | a0001c0003a0001c0020a0001c0030 | a0001c0003t0002a0001c0020t0003a0001c0030t0002 | a0001c0003t0002g0080a0001c0020t0003g0275a0001c0030t0002g0261 | 3 | 378 | 0.0079 | 3 | c.308 others(20): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | chr1 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223758689 | C | CCTT | intron_variant | MODIFIER | HG01106.hp1 HG01891.hp2 HG02647.hp1 others(7): Show |
a0001a0002a0005others(1): Show | a0001c0047a0002c0035a0005c0009others(1): Show | a0001c0047t0003a0002c0035t0001a0005c0009t0003others(3): Show | a0001c0047t0003g0126a0002c0035t0001g0292a0005c0009t0003g0088others(7): Show | 10 | 378 | 0.0265 | 3 | c.131 others(20): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 11/20 | chr1 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223765711 | T | TAAG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(224): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0003others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0171a0001c0001t0001g0186a0001c0001t0001g0245others(223): Show | 227 | 378 | 0.6005 | 3 | c.169 others(20): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN2_chr1_223707539_223781018 | 223775460 | G | GTAA | 3_prime_UTR_variant | MODIFIER | NA18966.hp1 NA18978.hp2 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0333a0001c0001t0009g0344a0001c0001t0009g0345 | 3 | 378 | 0.0079 | 3 | c.*60 others(12): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 21/21 | 609 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
CAPN2_chr1_223707539_223781018 | 223776481 | A | AGAT | downstream_gene_variant | MODIFIER | HG00609.hp1 HG02080.hp1 HG02083.hp1 others(14): Show |
a0001a0004a0009others(1): Show | a0001c0003a0004c0008a0009c0019others(2): Show | a0001c0003t0004a0004c0008t0004a0009c0019t0004others(2): Show | a0001c0003t0004g0362a0004c0008t0004g0099a0004c0008t0004g0105others(14): Show | 17 | 378 | 0.0450 | 3 | c.*16 others(14): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 464 | chr1 | TogoVar | ||||||
CAPN3_chr15_42354501_42417317 | 42366828 | C | CTTT | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG00741.hp2 others(53): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0003a0001c0015others(7): Show | a0001c0001t0001a0001c0003t0001a0001c0015t0001others(7): Show | a0001c0001t0001g0053a0001c0001t0001g0224a0001c0001t0001g0226others(52): Show | 56 | 306 | 0.1830 | 3 | c.309 others(20): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CAPN3_chr15_42354501_42417317 | 42398780 | C | CTTT | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01891.hp2 others(12): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0013a0002c0002others(5): Show | a0001c0001t0001a0001c0013t0001a0002c0002t0001others(5): Show | a0001c0001t0001g0007a0001c0013t0001g0280a0001c0013t0001g0281others(11): Show | 15 | 306 | 0.0490 | 3 | c.119 others(20): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 9/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CAPN3_chr15_42354501_42417317 | 42401485 | C | CCCT | intron_variant | MODIFIER | HG00621.hp1 HG01109.hp1 HG01175.hp1 others(16): Show |
a0001a0002a0016 | a0001c0001a0001c0015a0002c0002others(1): Show | a0001c0001t0001a0001c0015t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0217a0001c0001t0001g0230a0001c0001t0001g0233others(15): Show | 19 | 306 | 0.0621 | 3 | c.135 others(20): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CAPN3_chr15_42354501_42417317 | 42406426 | C | CTGG | intron_variant | MODIFIER | HG00733.hp2 HG01515.hp2 HG01517.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001 | a0001c0003t0001g0036a0001c0003t0001g0037a0002c0002t0001g0223 | 3 | 306 | 0.0098 | 3 | c.180 others(20): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CAPN3_chr15_42354501_42417317 | 42411688 | C | CGGG | intron_variant | MODIFIER | HG00673.hp2 HG00733.hp1 HG00741.hp1 others(25): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0015a0001c0025others(3): Show | a0001c0001t0001a0001c0015t0001a0001c0025t0001others(3): Show | a0001c0001t0001g0067a0001c0001t0001g0070a0001c0001t0001g0075others(25): Show | 28 | 306 | 0.0915 | 3 | c.244 others(18): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CAPN5_chr11_77061971_77131155 | 77079149 | C | CTTA | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG00642.hp1 others(65): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0002a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0091a0001c0001t0001g0175a0001c0001t0001g0180others(63): Show | 68 | 382 | 0.1780 | 3 | c.-35 others(20): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CAPN5_chr11_77061971_77131155 | 77097464 | G | GTTT | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(100): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0003a0003c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0041a0001c0001t0001g0261a0001c0001t0001g0359others(95): Show | 103 | 382 | 0.2696 | 3 | c.297 others(20): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CAPN6_chrX_111240099_111275483 | 111266233 | C | CAAA | intron_variant | MODIFIER | HG02451.hp1 HG02818.hp2 HG02922.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0005 | a0002c0003t0003g0012a0002c0003t0005g0011 | 6 | 242 | 0.0248 | 3 | c.-15 others(20): Show |
CAPN6 | ENSG00000077274.9 | transcript | ENST00000324068.2 | protein_coding | 1/12 | chrX | TogoVar | ||||||
CAPN6_chrX_111240099_111275483 | 111270389 | C | CCTG | 5_prime_UTR_variant | MODIFIER | HG01884.hp1 NA18974.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0013a0002c0002t0013 | a0001c0001t0013g0056a0002c0002t0013g0057 | 2 | 242 | 0.0083 | 3 | c.-37 others(10): Show |
CAPN6 | ENSG00000077274.9 | transcript | ENST00000324068.2 | protein_coding | 1/13 | 6454 | chrX | TogoVar | |||||
CAPN7_chr3_15201246_15257916 | 15238849 | A | ATTT | intron_variant | MODIFIER | HG02809.hp1 HG02896.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0014others(1): Show | a0001c0001t0003g0284a0001c0001t0009g0031a0001c0001t0009g0226others(2): Show | 6 | 376 | 0.0160 | 3 | c.140 others(22): Show |
CAPN7 | ENSG00000131375.10 | transcript | ENST00000253693.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CAPN7_chr3_15201246_15257916 | 15249006 | C | CAAA | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02559.hp2 others(19): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0003g0278a0001c0001t0003g0283a0001c0001t0003g0284others(19): Show | 22 | 376 | 0.0585 | 3 | c.220 others(22): Show |
CAPN7 | ENSG00000131375.10 | transcript | ENST00000253693.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CAPN9_chr1_230742388_230806989 | 230743446 | T | TCTC | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00639.hp2 HG00673.hp1 others(55): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(15): Show | a0001c0001t0001g0106a0001c0001t0001g0112a0001c0001t0001g0134others(55): Show | 58 | 394 | 0.1472 | 3 | c.-40 others(14): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 3941 | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230757719 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(103): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(15): Show | a0001c0001t0001g0048a0001c0001t0001g0187a0001c0001t0001g0220others(103): Show | 106 | 394 | 0.2690 | 3 | c.284 others(20): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN9_chr1_230742388_230806989 | 230769666 | T | TATC | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00738.hp2 others(29): Show |
a0001a0005a0006others(1): Show | a0001c0003a0001c0017a0005c0008others(2): Show | a0001c0003t0001a0001c0003t0003a0001c0017t0001others(3): Show | a0001c0003t0001g0015a0001c0003t0001g0016a0001c0003t0001g0017others(29): Show | 32 | 394 | 0.0812 | 3 | c.789 others(18): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |