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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAPSL_chr5_35899288_35943622 | 35919170 | A | AAAAATAT | intron_variant | MODIFIER | HG00408.hp2 HG01081.hp1 HG01981.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0025a0001c0001t0001g0102a0001c0001t0001g0108others(10): Show | 16 | 402 | 0.0398 | 7 | c.137 others(24): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
CAPZA1_chr1_112614832_112676616 | 112644184 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG03491.hp2 HG03927.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0027a0001c0001t0001g0046others(7): Show | 10 | 368 | 0.0272 | 7 | c.40- others(22): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPZA1_chr1_112614832_112676616 | 112656466 | T | TTTTTTTC | intron_variant | MODIFIER | HG01099.hp1 HG01358.hp2 HG01952.hp1 others(16): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0001g0041a0001c0001t0001g0046a0001c0001t0001g0047others(16): Show | 19 | 368 | 0.0516 | 7 | c.426 others(24): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 5/9 | chr1 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116880696 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00609.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0027 | a0001c0001t0001g0199a0001c0001t0001g0263a0001c0001t0001g0264others(6): Show | 10 | 354 | 0.0283 | 7 | c.40- others(22): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAPZB_chr1_19333775_19490539 | 19356315 | A | AACAGGGC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(173): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0008others(173): Show | 176 | 364 | 0.4835 | 7 | c.588 others(22): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 6/8 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19363260 | A | ATTTTTTT | intron_variant | MODIFIER | HG01346.hp1 HG01978.hp2 HG02080.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0318a0001c0001t0002g0331a0001c0001t0002g0337others(6): Show | 9 | 364 | 0.0247 | 7 | c.330 others(24): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4/8 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19383446 | C | CAAAAAAA | intron_variant | MODIFIER | HG02074.hp1 HG02083.hp2 NA18940.hp2 others(7): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0002a0001c0002t0003a0001c0006t0003 | a0001c0002t0002g0279a0001c0002t0002g0342a0001c0002t0002g0352others(7): Show | 10 | 364 | 0.0275 | 7 | c.215 others(24): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 3/8 | chr1 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2933686 | T | TTCCTTTC | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01069.hp1 others(7): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0047 | a0001c0001t0001a0001c0007t0001a0003c0047t0001 | a0001c0001t0001g0166a0001c0007t0001g0091a0001c0007t0001g0092others(7): Show | 10 | 322 | 0.0311 | 7 | c.151 others(24): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 10/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2933709 | T | TTCCCTCC | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp1 HG02559.hp1 others(2): Show |
a0001 | a0001c0010a0001c0042a0001c0043 | a0001c0010t0002a0001c0042t0001a0001c0043t0001 | a0001c0010t0002g0059a0001c0010t0002g0283a0001c0010t0002g0311others(2): Show | 5 | 322 | 0.0155 | 7 | c.151 others(24): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 10/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2933770 | T | TTTCTTTC | intron_variant | MODIFIER | HG02258.hp2 HG02630.hp2 HG03540.hp2 |
a0001 | a0001c0006a0001c0043 | a0001c0006t0001a0001c0043t0001 | a0001c0006t0001g0190a0001c0006t0001g0259a0001c0043t0001g0030 | 3 | 322 | 0.0093 | 7 | c.151 others(24): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 10/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 3022935 | A | ATATTTAT | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02280.hp2 others(6): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0002t0011a0001c0006t0001others(6): Show | a0001c0001t0001g0093a0001c0002t0011g0262a0001c0006t0001g0259others(6): Show | 9 | 322 | 0.0280 | 7 | c.-12 others(28): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 3040328 | G | GTTTTTTT | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 NA19004.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0154a0001c0001t0001g0158a0001c0001t0001g0160others(5): Show | 8 | 322 | 0.0248 | 7 | c.-12 others(26): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD14_chr17_80165030_80214331 | 80197543 | A | AAAAAAAG | intron_variant | MODIFIER | HG02615.hp1 HG02895.hp2 HG02976.hp1 others(8): Show |
a0004a0007a0023 | a0004c0008a0007c0011a0023c0049 | a0004c0008t0001a0007c0011t0003a0023c0049t0004 | a0004c0008t0001g0198a0007c0011t0003g0006a0007c0011t0003g0284others(7): Show | 11 | 376 | 0.0293 | 7 | c.159 others(24): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CARD6_chr5_40836367_40860354 | 40850413 | C | CAAAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00673.hp2 others(23): Show |
a0001a0002a0011others(1): Show | a0001c0002a0002c0003a0011c0012others(1): Show | a0001c0002t0001a0001c0002t0008a0002c0003t0004others(2): Show | a0001c0002t0001g0014a0001c0002t0001g0028a0001c0002t0001g0029others(14): Show | 26 | 440 | 0.0591 | 7 | c.842 others(24): Show |
CARD6 | ENSG00000132357.14 | transcript | ENST00000254691.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CARD8_chr19_48203086_48260912 | 48220952 | G | GAAAGGAA | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01109.hp2 others(20): Show |
a0001a0002 | a0001c0003a0001c0005a0001c0013others(1): Show | a0001c0003t0005a0001c0005t0051a0001c0013t0003others(4): Show | a0001c0003t0005g0088a0001c0003t0005g0089a0001c0003t0005g0122others(15): Show | 23 | 362 | 0.0635 | 7 | c.116 others(24): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 11/13 | chr19 | TogoVar | ||||||
CARD8_chr19_48203086_48260912 | 48220954 | A | AAGGAAGG | intron_variant | MODIFIER | HG00423.hp2 HG01361.hp1 HG01943.hp1 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0004a0001c0008others(5): Show | a0001c0002t0002a0001c0002t0007a0001c0002t0011others(14): Show | a0001c0002t0002g0066a0001c0002t0002g0203a0001c0002t0002g0212others(22): Show | 27 | 362 | 0.0746 | 7 | c.116 others(24): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 11/13 | chr19 | TogoVar | ||||||
CARHSP1_chr16_8847947_8874006 | 8851977 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG01081.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0036others(10): Show | 13 | 470 | 0.0277 | 7 | c.*31 others(18): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 969 | chr16 | TogoVar | ||||||
CARHSP1_chr16_8847947_8874006 | 8857261 | C | CTGTTTTT | intron_variant | MODIFIER | HG01081.hp1 HG03130.hp1 HG03942.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002a0001c0002t0033 | a0001c0001t0002g0200a0001c0002t0002g0025a0001c0002t0002g0171others(1): Show | 4 | 470 | 0.0085 | 7 | c.281 others(24): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
CARHSP1_chr16_8847947_8874006 | 8861989 | C | CTTTTTTT | intron_variant | MODIFIER | HG00597.hp1 HG02040.hp1 HG02071.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0025a0001c0003t0016 | a0001c0001t0001g0094a0001c0001t0001g0263a0001c0001t0001g0269others(7): Show | 10 | 470 | 0.0213 | 7 | c.-7- others(22): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25387114 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG02135.hp1 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0008a0001c0002t0001others(6): Show | a0001c0001t0003g0064a0001c0001t0008g0133a0001c0002t0001g0016others(7): Show | 10 | 186 | 0.0538 | 7 | c.139 others(26): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25490023 | T | TTTCTGGC | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG03139.hp1 others(2): Show |
a0001a0005a0006 | a0001c0003a0005c0019a0006c0016 | a0001c0003t0010a0005c0019t0005a0006c0016t0001others(1): Show | a0001c0003t0010g0185a0005c0019t0005g0139a0006c0016t0001g0030others(2): Show | 5 | 186 | 0.0269 | 7 | c.106 others(26): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 13/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25594043 | A | ATTCTCAG | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00609.hp1 others(6): Show |
a0001a0003a0012 | a0001c0003a0001c0004a0001c0015others(4): Show | a0001c0003t0002a0001c0003t0003a0001c0003t0007others(6): Show | a0001c0003t0002g0002a0001c0003t0003g0053a0001c0003t0007g0144others(6): Show | 9 | 186 | 0.0484 | 7 | c.300 others(24): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 31/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CASC3_chr17_40135537_40177171 | 40164750 | C | CTTTTTTT | intron_variant | MODIFIER | HG02148.hp2 HG02280.hp1 HG02922.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0001c0001t0004a0004c0005t0005 | a0001c0001t0002g0016a0001c0001t0002g0017a0001c0001t0002g0018others(2): Show | 5 | 266 | 0.0188 | 7 | c.147 others(24): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CASK_chrX_41509934_41928554 | 41603094 | T | TTCAAAAA | intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0132 | 1 | 164 | 0.0061 | 7 | c.115 others(26): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 12/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41710081 | T | TGTGTGTG | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0008 | 1 | 164 | 0.0061 | 7 | c.429 others(26): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 5/26 | chrX | TogoVar | ||||||
CASP1_chr11_105020508_105040144 | 105035616 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01106.hp1 HG01106.hp2 others(27): Show |
a0001a0005 | a0001c0002a0001c0004a0005c0008 | a0001c0002t0003a0001c0002t0006a0001c0004t0004others(1): Show | a0001c0002t0003g0003a0001c0002t0003g0040a0001c0002t0006g0012others(7): Show | 30 | 398 | 0.0754 | 7 | c.-50 others(16): Show |
CASP1 | ENSG00000137752.25 | transcript | ENST00000533400.6 | protein_coding | 473 | chr11 | TogoVar | ||||||
CASP2_chr7_143283351_143312696 | 143291780 | C | CTTTTTTT | intron_variant | MODIFIER | HG01069.hp2 HG01099.hp1 HG01175.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0012others(15): Show | 33 | 246 | 0.1342 | 7 | c.225 others(22): Show |
CASP2 | ENSG00000106144.20 | transcript | ENST00000310447.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CASP3_chr4_184622696_184654447 | 184631542 | T | TCAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00639.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0003g0091a0001c0001t0005g0014a0001c0001t0005g0027others(6): Show | 18 | 366 | 0.0492 | 7 | c.483 others(22): Show |
CASP3 | ENSG00000164305.20 | transcript | ENST00000308394.9 | protein_coding | 6/7 | chr4 | TogoVar | ||||||
CASP6_chr4_109683628_109708445 | 109705999 | A | ATATATAT | upstream_gene_variant | MODIFIER | HG02735.hp1 NA18947.hp2 NA19075.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0023a0001c0001t0003g0127 | 3 | 416 | 0.0072 | 7 | c.-26 others(18): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2555 | chr4 | TogoVar | ||||||
CASP7_chr10_113674912_113735905 | 113687836 | C | CTTTCTTT | intron_variant | MODIFIER | HG01081.hp2 HG01123.hp1 HG01168.hp1 others(28): Show |
a0001a0002a0003 | a0001c0001a0001c0012a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0181a0001c0001t0003g0188a0001c0001t0003g0191others(26): Show | 31 | 406 | 0.0764 | 7 | c.-1+ others(22): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | chr10 | TogoVar | ||||||
CASP7_chr10_113674912_113735905 | 113687890 | C | CTTTCTTT | intron_variant | MODIFIER | HG00738.hp2 HG04199.hp1 NA18964.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0004a0003c0003t0002 | a0001c0001t0004g0077a0003c0003t0002g0118a0003c0003t0002g0119others(1): Show | 4 | 406 | 0.0099 | 7 | c.-1+ others(22): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | chr10 | TogoVar | ||||||
CASP9_chr1_15486401_15529215 | 15524058 | C | CGGGGGCG | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(212): Show |
a0001a0003a0006 | a0001c0002a0001c0003a0001c0005others(3): Show | a0001c0002t0001a0001c0002t0007a0001c0002t0010others(12): Show | a0001c0002t0001g0001a0001c0002t0001g0005a0001c0002t0001g0008others(155): Show | 215 | 350 | 0.6143 | 7 | c.132 others(19): Show |
CASP9 | ENSG00000132906.18 | transcript | ENST00000333868.10 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115748539 | C | CTCTTATT | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00438.hp1 others(94): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0004a0001c0002t0001a0001c0002t0006others(7): Show | a0001c0001t0004g0217a0001c0002t0001g0043a0001c0002t0001g0044others(94): Show | 97 | 364 | 0.2665 | 7 | c.235 others(24): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115761528 | A | AGAAGAAG | intron_variant | MODIFIER | HG01109.hp1 HG02015.hp2 HG02165.hp1 others(6): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0003t0003a0002c0004t0004 | a0002c0003t0001g0268a0002c0003t0001g0304a0002c0003t0001g0305others(6): Show | 9 | 364 | 0.0247 | 7 | c.234 others(24): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74963074 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG01071.hp2 HG01074.hp2 HG01243.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0003a0001c0002t0001a0001c0002t0033others(2): Show | a0001c0001t0003g0224a0001c0001t0003g0225a0001c0002t0001g0066others(6): Show | 9 | 228 | 0.0395 | 7 | c.-19 others(18): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1630 | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74995511 | G | GAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00609.hp1 others(121): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(41): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0007others(121): Show | 124 | 228 | 0.5439 | 7 | c.114 others(26): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CATIP_chr2_218351857_218373094 | 218359341 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp2 HG01168.hp2 others(16): Show |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0001a0006c0012t0001 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(12): Show | 19 | 366 | 0.0519 | 7 | c.376 others(24): Show |
CATIP | ENSG00000158428.4 | transcript | ENST00000289388.4 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CATSPER1_chr11_66011752_66031479 | 66015714 | T | TCCTGGGC | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG02523.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0106a0001c0001t0001g0120 | 6 | 408 | 0.0147 | 7 | c.*11 others(18): Show |
CATSPER1 | ENSG00000175294.6 | transcript | ENST00000312106.6 | protein_coding | 1037 | chr11 | TogoVar | ||||||
CATSPER1_chr11_66011752_66031479 | 66027488 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG01109.hp2 others(46): Show |
a0001a0002a0005others(3): Show | a0001c0001a0002c0002a0002c0005others(6): Show | a0001c0001t0001a0002c0002t0002a0002c0005t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0020others(27): Show | 49 | 408 | 0.1201 | 7 | c.-11 others(18): Show |
CATSPER1 | ENSG00000175294.6 | transcript | ENST00000312106.6 | protein_coding | 1010 | chr11 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91615885 | C | CTTTTTTT | intron_variant | MODIFIER | HG01074.hp2 HG01515.hp1 HG01517.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0002others(2): Show | a0001c0001t0001g0020a0001c0001t0001g0044a0001c0001t0001g0070others(17): Show | 20 | 271 | 0.0738 | 7 | c.240 others(26): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 20/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91640384 | T | TCCCTCCC | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG00738.hp2 others(91): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(9): Show | a0001c0001t0001g0007a0001c0001t0001g0013a0001c0001t0001g0016others(91): Show | 94 | 271 | 0.3469 | 7 | c.143 others(26): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 15/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91709524 | C | CAAAAAAA | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02055.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(24): Show | 27 | 271 | 0.0996 | 7 | c.371 others(24): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 5/26 | chr14 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5731560 | G | GTTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01069.hp2 others(19): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(7): Show | a0001c0001t0001g0055a0001c0001t0001g0067a0001c0001t0001g0074others(19): Show | 22 | 336 | 0.0655 | 7 | c.276 others(24): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5743606 | G | GAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(221): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0016a0001c0034others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(29): Show | a0001c0001t0001g0006a0001c0001t0001g0020a0001c0001t0001g0021others(221): Show | 224 | 336 | 0.6667 | 7 | c.574 others(22): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5781378 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00544.hp1 HG01169.hp2 HG01884.hp1 others(8): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0004a0004c0003others(1): Show | a0001c0001t0002a0003c0004t0001a0004c0003t0001others(1): Show | a0001c0001t0002g0064a0001c0001t0002g0296a0003c0004t0001g0096others(8): Show | 11 | 336 | 0.0327 | 7 | c.*27 others(18): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 2645 | chr19 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244515920 | A | ATGGTGTC | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03471.hp1 |
a0001a0006 | a0001c0002a0006c0010 | a0001c0002t0001a0006c0010t0001 | a0001c0002t0001g0088a0006c0010t0001g0137a0006c0010t0001g0138 | 3 | 206 | 0.0146 | 7 | c.430 others(24): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244624128 | A | ATTTTTTT | intron_variant | MODIFIER | HG00621.hp2 HG01346.hp2 HG01496.hp2 others(13): Show |
a0001a0004a0005 | a0001c0001a0001c0003a0004c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0002others(2): Show | a0001c0001t0001g0034a0001c0001t0001g0063a0001c0001t0001g0064others(13): Show | 16 | 206 | 0.0777 | 7 | c.264 others(26): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERG_chr19_38330830_38375943 | 38333285 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00733.hp1 HG02027.hp1 HG02055.hp1 others(9): Show |
a0001a0002a0004others(3): Show | a0001c0007a0002c0003a0004c0006others(3): Show | a0001c0007t0001a0002c0003t0001a0004c0006t0001others(3): Show | a0001c0007t0001g0006a0001c0007t0001g0197a0001c0007t0001g0198others(9): Show | 12 | 376 | 0.0319 | 7 | c.-26 others(18): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 2544 | chr19 | TogoVar | ||||||
CATSPERG_chr19_38330830_38375943 | 38339266 | A | AAGGAGCC | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG00735.hp2 others(81): Show |
a0002a0004a0006others(2): Show | a0002c0003a0004c0006a0004c0018others(3): Show | a0002c0003t0001a0004c0006t0001a0004c0018t0001others(3): Show | a0002c0003t0001g0029a0002c0003t0001g0030a0002c0003t0001g0033others(81): Show | 84 | 376 | 0.2234 | 7 | c.324 others(24): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERG_chr19_38330830_38375943 | 38357515 | C | CAAAAAAA | intron_variant | MODIFIER | HG00673.hp2 HG02027.hp1 HG02080.hp2 others(16): Show |
a0001a0002a0004others(2): Show | a0001c0005a0002c0003a0004c0006others(3): Show | a0001c0005t0001a0002c0003t0001a0004c0006t0001others(3): Show | a0001c0005t0001g0183a0001c0005t0001g0184a0002c0003t0001g0085others(16): Show | 19 | 376 | 0.0505 | 7 | c.131 others(24): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |