view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CARHSP1_chr16_8847947_8874006 | 8863112 | CTTT | C | intron_variant | MODIFIER | HG00621.hp1 HG00733.hp1 HG01978.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0003a0001c0001t0012a0002c0007t0003 | a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 others(5): Show |
8 | 470 | 0.0170 | -3 | c.-7- others(18): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 1/3 | chr16 | TogoVar | |||||||
CARM1_chr19_10866553_10928075 | 10867641 | CTTT | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(49): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(49): Show |
52 | 354 | 0.1469 | -3 | c.-40 others(14): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 3911 | chr19 | TogoVar | |||||||
CARM1_chr19_10866553_10928075 | 10871589 | AGCG | A | 5_prime_UTR_variant | MODIFIER | HG00597.hp2 HG02257.hp1 HG02572.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0007 a0001c0001t0007g0223 a0001c0001t0007g0231 others(9): Show |
13 | 354 | 0.0367 | -3 | c.-66 others(10): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/16 | 64 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CARM1_chr19_10866553_10928075 | 10871640 | AGCG | A | 5_prime_UTR_variant | MODIFIER | HG02523.hp1 HG02523.hp2 HG02698.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0020a0001c0001t0065a0001c0002t0023others(2): Show | a0001c0001t0020g0074 a0001c0001t0020g0175 a0001c0001t0020g0180 others(6): Show |
9 | 354 | 0.0254 | -3 | c.-54 others(10): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/16 | 52 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CARM1_chr19_10866553_10928075 | 10873624 | GTTT | G | intron_variant | MODIFIER | HG00438.hp1 HG01175.hp2 HG01192.hp1 others(27): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(11): Show | a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0072 others(27): Show |
30 | 354 | 0.0848 | -3 | c.220 others(20): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CARM1_chr19_10866553_10928075 | 10902290 | CTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp1 others(61): Show |
a0001 | a0001c0001a0001c0005a0001c0010 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(59): Show |
64 | 354 | 0.1808 | -3 | c.221 others(20): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CARM1_chr19_10866553_10928075 | 10905394 | GGCC | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(128): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(32): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(126): Show |
131 | 354 | 0.3701 | -3 | c.346 others(18): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 2/15 | chr19 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25275404 | AAAC | A | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01361.hp1 HG02486.hp2 others(6): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0003a0001c0002t0008a0001c0003t0004others(6): Show | a0001c0002t0003g0017 a0001c0002t0008g0026 a0001c0003t0004g0022 others(6): Show |
9 | 186 | 0.0484 | -3 | c.-43 others(14): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 3969 | chr6 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25282115 | CAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(99): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(27): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(45): Show | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0056 others(99): Show |
102 | 186 | 0.5484 | -3 | c.40+ others(18): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25293297 | TGTG | T | intron_variant | MODIFIER | HG00642.hp1 HG01081.hp1 HG01106.hp1 |
a0002a0005 | a0002c0007a0005c0019 | a0002c0007t0006a0005c0019t0001 | a0002c0007t0006g0033 a0002c0007t0006g0035 a0005c0019t0001g0034 |
3 | 186 | 0.0161 | -3 | c.138 others(20): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | chr6 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25308377 | ATTT | A | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp1 others(66): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(44): Show | a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0076 others(66): Show |
69 | 186 | 0.3710 | -3 | c.138 others(22): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25309479 | CTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp1 others(69): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(44): Show | a0001c0001t0001g0012 a0001c0001t0001g0056 a0001c0001t0001g0065 others(69): Show |
72 | 186 | 0.3871 | -3 | c.138 others(22): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25321553 | CAAA | C | intron_variant | MODIFIER | HG02572.hp1 HG06807.hp1 NA18906.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0012 | a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0012g0183 |
3 | 186 | 0.0161 | -3 | c.138 others(22): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25330888 | GTTT | G | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(49): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(34): Show | a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0068 others(49): Show |
52 | 186 | 0.2796 | -3 | c.138 others(22): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25352152 | TAAA | T | intron_variant | MODIFIER | HG00140.hp1 HG01175.hp2 HG01255.hp2 others(17): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0015others(14): Show | a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0007g0143 others(17): Show |
20 | 186 | 0.1075 | -3 | c.138 others(22): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25353183 | TATG | T | intron_variant | MODIFIER | HG02630.hp1 HG03540.hp1 |
a0001a0002 | a0001c0002a0002c0013 | a0001c0002t0001a0002c0013t0013 | a0001c0002t0001g0009 a0002c0013t0013g0186 |
2 | 186 | 0.0108 | -3 | c.139 others(22): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25354330 | ATTT | A | intron_variant | MODIFIER | HG00673.hp2 HG01074.hp2 HG01081.hp2 others(37): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(25): Show | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0125 others(37): Show |
40 | 186 | 0.2151 | -3 | c.139 others(22): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25380860 | CCTT | C | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00642.hp2 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(17): Show | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0081 others(25): Show |
28 | 186 | 0.1505 | -3 | c.139 others(22): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | chr6 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25381342 | CACA | C | intron_variant | MODIFIER | HG00735.hp1 HG02970.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0003 | a0001c0001t0008g0101 a0001c0002t0003g0017 |
2 | 186 | 0.0108 | -3 | c.139 others(22): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25390309 | TATA | T | intron_variant | MODIFIER | HG02135.hp1 HG02165.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0005a0001c0008t0010 | a0001c0001t0005g0147 a0001c0008t0010g0148 |
2 | 186 | 0.0108 | -3 | c.139 others(22): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | chr6 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25390317 | TATA | T | intron_variant | MODIFIER | HG00597.hp2 HG01167.hp1 NA18949.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0010others(1): Show | a0001c0001t0007a0001c0004t0002a0003c0010t0003others(1): Show | a0001c0001t0007g0141 a0001c0004t0002g0079 a0003c0010t0003g0132 others(1): Show |
4 | 186 | 0.0215 | -3 | c.139 others(22): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | chr6 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25390318 | ATAT | A | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG00735.hp2 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0007others(8): Show | a0001c0001t0001g0080 a0001c0001t0003g0128 a0001c0002t0007g0146 others(8): Show |
11 | 186 | 0.0591 | -3 | c.139 others(22): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25404755 | TAAA | T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(75): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(55): Show | a0001c0001t0001g0020 a0001c0001t0001g0080 a0001c0001t0001g0102 others(75): Show |
78 | 186 | 0.4194 | -3 | c.139 others(22): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25420567 | CCGA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(99): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0015a0001c0001t0019others(57): Show | a0001c0001t0001g0084 a0001c0001t0015g0176 a0001c0001t0015g0184 others(99): Show |
102 | 186 | 0.5484 | -3 | c.189 others(18): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 3/36 | chr6 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25494083 | ATAT | A | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG01081.hp2 others(23): Show |
a0001a0003a0010 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(10): Show | a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0065 others(23): Show |
26 | 186 | 0.1398 | -3 | c.122 others(22): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 15/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25539625 | CAAA | C | intron_variant | MODIFIER | HG02572.hp1 HG02615.hp1 HG02818.hp1 others(5): Show |
a0001a0010 | a0001c0001a0001c0002a0010c0020 | a0001c0001t0012a0001c0002t0008a0001c0002t0010others(3): Show | a0001c0001t0012g0179 a0001c0002t0008g0013 a0001c0002t0008g0090 others(5): Show |
8 | 186 | 0.0430 | -3 | c.219 others(20): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25585196 | ACAG | A | intron_variant | MODIFIER | HG01243.hp2 HG02572.hp2 HG03540.hp2 |
a0001a0008 | a0001c0003a0001c0031a0008c0035 | a0001c0003t0023a0001c0031t0004a0008c0035t0004 | a0001c0003t0023g0161 a0001c0031t0004g0004 a0008c0035t0004g0107 |
3 | 186 | 0.0161 | -3 | c.300 others(22): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 31/36 | chr6 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25595500 | TGAA | T | intron_variant | MODIFIER | NA18906.hp2 NA21309.hp2 |
a0001 | a0001c0003a0001c0009 | a0001c0003t0002a0001c0009t0002 | a0001c0003t0002g0010 a0001c0009t0002g0025 |
2 | 186 | 0.0108 | -3 | c.311 others(20): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25619733 | CTTT | C | 3_prime_UTR_variant | MODIFIER | HG02083.hp2 HG02109.hp2 HG02615.hp1 others(4): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0015a0001c0002t0011a0001c0009t0011others(3): Show | a0001c0001t0015g0176 a0001c0001t0015g0184 a0001c0002t0011g0029 others(4): Show |
7 | 186 | 0.0376 | -3 | c.*17 others(12): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 37/37 | 176 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL2_chr16_67640144_67662569 | 67652328 | GAGA | G | conservative_inframe_deletion | MODERATE | HG02055.hp2 HG02145.hp1 HG02602.hp2 others(4): Show |
a0002a0012 | a0002c0003a0012c0017 | a0002c0003t0001a0012c0017t0001 | a0002c0003t0001g0011 a0002c0003t0001g0077 a0002c0003t0001g0078 others(1): Show |
7 | 282 | 0.0248 | -3 | c.280 others(12): Show |
p.Lys others(6): Show |
CARMIL2 | ENSG00000159753.15 | transcript | ENST00000334583.11 | protein_coding | 27/38 | 2912/4462 | 2809/4308 | 937/1435 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
CARMIL3_chr14_24047009_24074729 | 24064109 | AAAG | A | intron_variant | MODIFIER | HG00597.hp2 HG01257.hp2 HG01258.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0096 a0001c0003t0001g0143 a0001c0005t0001g0011 others(6): Show |
15 | 414 | 0.0362 | -3 | c.298 others(20): Show |
CARMIL3 | ENSG00000186648.15 | transcript | ENST00000342740.6 | protein_coding | 31/39 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CARNMT1_chr9_74975790_75033293 | 75005826 | AAAC | A | intron_variant | MODIFIER | HG00642.hp2 HG02622.hp1 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0091 a0001c0001t0001g0113 a0001c0001t0002g0305 |
3 | 366 | 0.0082 | -3 | c.591 others(20): Show |
CARNMT1 | ENSG00000156017.13 | transcript | ENST00000376834.8 | protein_coding | 3/7 | chr9 | TogoVar | |||||||
CARNMT1_chr9_74975790_75033293 | 75007733 | AAAT | A | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00673.hp2 others(60): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0006a0001c0001t0019others(1): Show | a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 others(49): Show |
63 | 366 | 0.1721 | -3 | c.591 others(20): Show |
CARNMT1 | ENSG00000156017.13 | transcript | ENST00000376834.8 | protein_coding | 3/7 | chr9 | TogoVar | |||||||
CARNMT1_chr9_74975790_75033293 | 75008168 | TAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0001t0002g0048 others(26): Show |
30 | 366 | 0.0820 | -3 | c.590 others(20): Show |
CARNMT1 | ENSG00000156017.13 | transcript | ENST00000376834.8 | protein_coding | 3/7 | chr9 | TogoVar | |||||||
CARNMT1_chr9_74975790_75033293 | 75020261 | TTTC | T | intron_variant | MODIFIER | NA18953.hp1 NA18968.hp2 NA19072.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 a0001c0001t0001g0086 a0001c0001t0001g0205 others(1): Show |
4 | 366 | 0.0109 | -3 | c.231 others(20): Show |
CARNMT1 | ENSG00000156017.13 | transcript | ENST00000376834.8 | protein_coding | 1/7 | chr9 | TogoVar | |||||||
CARNMT1_chr9_74975790_75033293 | 75021298 | ATAC | A | intron_variant | MODIFIER | HG01884.hp2 HG03130.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0049 a0001c0001t0001g0204 a0001c0001t0005g0203 |
3 | 366 | 0.0082 | -3 | c.231 others(20): Show |
CARNMT1 | ENSG00000156017.13 | transcript | ENST00000376834.8 | protein_coding | 1/7 | chr9 | TogoVar | |||||||
CARNMT1_chr9_74975790_75033293 | 75022924 | CAGG | C | intron_variant | MODIFIER | HG03831.hp2 HG03927.hp1 NA18960.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027 a0001c0001t0003g0252 a0001c0001t0003g0253 others(5): Show |
9 | 366 | 0.0246 | -3 | c.230 others(20): Show |
CARNMT1 | ENSG00000156017.13 | transcript | ENST00000376834.8 | protein_coding | 1/7 | chr9 | TogoVar | |||||||
CARS1_chr11_2995929_3062423 | 2996702 | ATTT | A | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG02109.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 others(13): Show |
19 | 321 | 0.0592 | -3 | c.*44 others(14): Show |
CARS1 | ENSG00000110619.18 | transcript | ENST00000380525.9 | protein_coding | 4226 | chr11 | TogoVar | |||||||
CARS1_chr11_2995929_3062423 | 2997092 | CCTT | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG02074.hp2 others(13): Show |
a0001a0011 | a0001c0001a0011c0008 | a0001c0001t0001a0011c0008t0001 | a0001c0001t0001g0022 a0001c0001t0001g0259 a0001c0001t0001g0260 others(12): Show |
16 | 321 | 0.0498 | -3 | c.*40 others(14): Show |
CARS1 | ENSG00000110619.18 | transcript | ENST00000380525.9 | protein_coding | 3836 | chr11 | TogoVar | |||||||
CARS1_chr11_2995929_3062423 | 2998432 | CCCG | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(96): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(87): Show |
99 | 321 | 0.3084 | -3 | c.*26 others(14): Show |
CARS1 | ENSG00000110619.18 | transcript | ENST00000380525.9 | protein_coding | 2496 | chr11 | TogoVar | |||||||
CARS1_chr11_2995929_3062423 | 3014637 | AAAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(152): Show |
a0001a0007a0008 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(138): Show |
155 | 321 | 0.4829 | -3 | c.198 others(22): Show |
CARS1 | ENSG00000110619.18 | transcript | ENST00000380525.9 | protein_coding | 17/22 | chr11 | TogoVar | |||||||
CARS2_chr13_110636417_110711116 | 110649931 | CTTT | C | intron_variant | MODIFIER | HG00597.hp1 HG01256.hp1 HG03017.hp1 others(3): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0004others(2): Show | a0001c0002t0002a0001c0003t0001a0001c0003t0002others(3): Show | a0001c0002t0002g0201 a0001c0003t0001g0325 a0001c0003t0002g0284 others(3): Show |
6 | 372 | 0.0161 | -3 | c.105 others(22): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 10/14 | chr13 | TogoVar | |||||||
CARS2_chr13_110636417_110711116 | 110660763 | CTTT | C | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00609.hp1 others(132): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(16): Show | a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 others(123): Show |
135 | 372 | 0.3629 | -3 | c.987 others(20): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 9/14 | chr13 | TogoVar | |||||||
CASC3_chr17_40135537_40177171 | 40140385 | CACA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG02280.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0004g0250 |
3 | 266 | 0.0113 | -3 | c.-16 others(12): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 151 | chr17 | TogoVar | |||||||
CASC3_chr17_40135537_40177171 | 40169742 | CTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG01106.hp2 HG01975.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0047 a0001c0001t0001g0065 a0001c0001t0001g0068 others(14): Show |
17 | 266 | 0.0639 | -3 | c.*41 others(18): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CASC3_chr17_40135537_40177171 | 40172865 | CAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01109.hp2 HG02109.hp2 others(17): Show |
a0001a0004 | a0001c0001a0001c0008a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0013 a0001c0001t0001g0239 a0001c0001t0001g0240 others(16): Show |
20 | 266 | 0.0752 | -3 | c.*24 others(14): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 695 | chr17 | TogoVar | |||||||
CASD1_chr7_94504809_94562019 | 94505358 | GTTT | G | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01257.hp2 others(27): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0011 | a0001c0001t0001a0001c0001t0006a0001c0003t0001others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 others(21): Show |
30 | 398 | 0.0754 | -3 | c.-47 others(14): Show |
CASD1 | ENSG00000127995.17 | transcript | ENST00000297273.9 | protein_coding | 4450 | chr7 | TogoVar | |||||||
CASD1_chr7_94504809_94562019 | 94520626 | CCTT | C | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02258.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0039 others(7): Show |
19 | 398 | 0.0477 | -3 | c.351 others(20): Show |
CASD1 | ENSG00000127995.17 | transcript | ENST00000297273.9 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASD1_chr7_94504809_94562019 | 94534159 | ATTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(176): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(124): Show |
179 | 398 | 0.4498 | -3 | c.628 others(18): Show |
CASD1 | ENSG00000127995.17 | transcript | ENST00000297273.9 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASKIN2_chr17_75495261_75520537 | 75520435 | AATC | A | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG01071.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0073 a0001c0001t0002g0008 a0001c0001t0002g0098 others(8): Show |
22 | 414 | 0.0531 | -3 | c.-54 others(14): Show |
CASKIN2 | ENSG00000177303.10 | transcript | ENST00000321617.8 | protein_coding | 4899 | chr17 | TogoVar |