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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMCHD1_chr18_2650726_2810017 | 2669154 | TG | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(57): Show |
a0001a0010 | a0001c0002a0001c0004a0010c0025 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(6): Show | a0001c0002t0001g0176a0001c0002t0001g0178a0001c0002t0001g0179others(57): Show | 60 | 340 | 0.1765 | -1 | c.424 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2677152 | TA | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(127): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0004a0001c0015others(11): Show | a0001c0002t0002a0001c0002t0048a0001c0004t0002others(24): Show | a0001c0002t0002g0108a0001c0002t0002g0109a0001c0002t0002g0110others(127): Show | 130 | 340 | 0.3824 | -1 | c.638 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 5/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2679480 | CA | C | intron_variant | MODIFIER | HG00558.hp2 HG01192.hp2 HG01884.hp2 others(14): Show |
a0001a0003a0004others(3): Show | a0001c0007a0003c0003a0004c0008others(3): Show | a0001c0007t0016a0003c0003t0006a0004c0008t0001others(7): Show | a0001c0007t0016g0226a0001c0007t0016g0227a0001c0007t0016g0228others(14): Show | 17 | 340 | 0.0500 | -1 | c.638 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 5/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2681412 | CA | C | intron_variant | MODIFIER | HG01167.hp1 HG01891.hp1 HG02145.hp2 others(11): Show |
a0001a0002a0009 | a0001c0005a0001c0007a0002c0001others(2): Show | a0001c0005t0009a0001c0007t0016a0002c0001t0008others(2): Show | a0001c0005t0009g0240a0001c0005t0009g0241a0001c0005t0009g0242others(11): Show | 14 | 340 | 0.0412 | -1 | c.639 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 5/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2681586 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(251): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0004a0001c0005others(26): Show | a0001c0002t0002a0001c0002t0048a0001c0004t0002others(62): Show | a0001c0002t0002g0108a0001c0002t0002g0109a0001c0002t0002g0110others(251): Show | 254 | 340 | 0.7471 | -1 | c.639 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 5/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2689852 | TA | T | intron_variant | MODIFIER | HG01106.hp1 HG01192.hp2 HG01884.hp2 others(20): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0004a0001c0005others(6): Show | a0001c0002t0003a0001c0004t0012a0001c0005t0007others(13): Show | a0001c0002t0003g0201a0001c0004t0012g0055a0001c0005t0007g0028others(20): Show | 23 | 340 | 0.0677 | -1 | c.873 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2690958 | GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(307): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0004a0001c0005others(27): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(70): Show | a0001c0002t0001g0176a0001c0002t0001g0178a0001c0002t0001g0179others(307): Show | 310 | 340 | 0.9118 | -1 | c.873 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2693625 | TG | T | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG01891.hp1 others(17): Show |
a0001a0002a0008others(1): Show | a0001c0005a0001c0007a0002c0016others(2): Show | a0001c0005t0009a0001c0007t0011a0001c0007t0013others(4): Show | a0001c0005t0009g0240a0001c0005t0009g0241a0001c0005t0009g0242others(17): Show | 20 | 340 | 0.0588 | -1 | c.874 others(8): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 7/47 | chr18 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2695309 | AT | A | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG01192.hp2 others(49): Show |
a0001a0002a0004others(2): Show | a0001c0004a0001c0005a0001c0007others(6): Show | a0001c0004t0001a0001c0005t0007a0001c0005t0009others(20): Show | a0001c0004t0001g0189a0001c0005t0007g0022a0001c0005t0007g0023others(49): Show | 52 | 340 | 0.1529 | -1 | c.104 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 8/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2698680 | TC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(276): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0004a0001c0005others(21): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(54): Show | a0001c0002t0001g0176a0001c0002t0001g0178a0001c0002t0001g0179others(276): Show | 279 | 340 | 0.8206 | -1 | c.134 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 10/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2698853 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(273): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0004a0001c0005others(20): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(52): Show | a0001c0002t0001g0176a0001c0002t0001g0178a0001c0002t0001g0179others(273): Show | 276 | 340 | 0.8118 | -1 | c.134 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 10/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2702292 | TA | T | intron_variant | MODIFIER | HG01516.hp1 HG02451.hp2 HG02523.hp1 others(6): Show |
a0001a0002 | a0001c0005a0001c0012a0002c0001 | a0001c0005t0007a0001c0012t0022a0001c0012t0028others(2): Show | a0001c0005t0007g0028a0001c0012t0022g0020a0001c0012t0028g0021others(6): Show | 9 | 340 | 0.0265 | -1 | c.164 others(10): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 12/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2704604 | AT | A | intron_variant | MODIFIER | HG01192.hp2 HG01884.hp1 HG01884.hp2 others(20): Show |
a0001a0004a0007others(1): Show | a0001c0005a0001c0007a0004c0008others(2): Show | a0001c0005t0007a0001c0005t0009a0001c0005t0016others(7): Show | a0001c0005t0007g0022a0001c0005t0007g0023a0001c0005t0007g0024others(20): Show | 23 | 340 | 0.0677 | -1 | c.184 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 13/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2705086 | GT | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(57): Show |
a0001a0010 | a0001c0002a0001c0004a0010c0025 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(6): Show | a0001c0002t0001g0176a0001c0002t0001g0178a0001c0002t0001g0179others(57): Show | 60 | 340 | 0.1765 | -1 | c.184 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 13/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2707300 | GA | G | intron_variant | MODIFIER | HG01192.hp2 HG01884.hp2 HG01891.hp2 others(9): Show |
a0004a0007a0013 | a0004c0008a0007c0020a0013c0021 | a0004c0008t0001a0004c0008t0011a0004c0008t0017others(4): Show | a0004c0008t0001g0001a0004c0008t0011g0221a0004c0008t0011g0222others(9): Show | 12 | 340 | 0.0353 | -1 | c.206 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 15/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2708615 | TG | T | intron_variant | MODIFIER | HG02630.hp1 HG03486.hp1 NA19030.hp2 |
a0002 | a0002c0001 | a0002c0001t0014a0002c0001t0040 | a0002c0001t0014g0215a0002c0001t0014g0216a0002c0001t0040g0217 | 3 | 340 | 0.0088 | -1 | c.226 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 17/47 | chr18 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2708617 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(260): Show |
a0001a0002a0003others(11): Show | a0001c0002a0001c0004a0001c0005others(27): Show | a0001c0002t0002a0001c0002t0048a0001c0004t0002others(64): Show | a0001c0002t0002g0108a0001c0002t0002g0109a0001c0002t0002g0110others(260): Show | 263 | 340 | 0.7735 | -1 | c.226 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 17/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2708907 | TA | T | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp2 HG01433.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0015 | a0001c0002t0003g0013a0001c0002t0003g0014a0001c0002t0003g0017others(4): Show | 7 | 340 | 0.0206 | -1 | c.226 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 17/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2711142 | AT | A | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00609.hp1 others(35): Show |
a0001a0002a0011 | a0001c0002a0001c0004a0001c0018others(3): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0037others(7): Show | a0001c0002t0002g0108a0001c0002t0002g0109a0001c0002t0002g0110others(35): Show | 38 | 340 | 0.1118 | -1 | c.226 others(10): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 17/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2717950 | AG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(59): Show |
a0001a0010 | a0001c0002a0001c0004a0001c0012others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(7): Show | a0001c0002t0001g0176a0001c0002t0001g0178a0001c0002t0001g0179others(59): Show | 62 | 340 | 0.1824 | -1 | c.226 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 17/47 | chr18 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2725302 | GT | G | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp2 HG03098.hp2 others(8): Show |
a0001 | a0001c0005 | a0001c0005t0007a0001c0005t0009a0001c0005t0026 | a0001c0005t0007g0022a0001c0005t0007g0023a0001c0005t0007g0024others(8): Show | 11 | 340 | 0.0324 | -1 | c.270 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 21/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2728742 | GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(263): Show |
a0001a0002a0003others(11): Show | a0001c0002a0001c0004a0001c0005others(27): Show | a0001c0002t0002a0001c0002t0048a0001c0004t0002others(66): Show | a0001c0002t0002g0108a0001c0002t0002g0109a0001c0002t0002g0110others(263): Show | 266 | 340 | 0.7824 | -1 | c.291 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2729709 | CT | C | intron_variant | MODIFIER | HG01169.hp2 HG01515.hp1 HG01515.hp2 others(3): Show |
a0001a0002a0005 | a0001c0002a0002c0001a0002c0016others(1): Show | a0001c0002t0002a0002c0001t0001a0002c0016t0023others(1): Show | a0001c0002t0002g0108a0002c0001t0001g0278a0002c0001t0001g0329others(3): Show | 6 | 340 | 0.0177 | -1 | c.304 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 24/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2734463 | GA | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0013a0001c0002t0003g0014a0001c0002t0003g0015others(2): Show | 5 | 340 | 0.0147 | -1 | c.327 others(10): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 25/47 | chr18 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2735068 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(239): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0004a0001c0005others(21): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(55): Show | a0001c0002t0001g0176a0001c0002t0001g0178a0001c0002t0001g0179others(239): Show | 242 | 340 | 0.7118 | -1 | c.327 others(10): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 25/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2739929 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(126): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0004a0001c0012others(8): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(24): Show | a0001c0002t0001g0176a0001c0002t0001g0178a0001c0002t0001g0179others(126): Show | 129 | 340 | 0.3794 | -1 | c.351 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 27/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2748432 | GC | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(336): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0004a0001c0005others(28): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(79): Show | a0001c0002t0001g0176a0001c0002t0001g0178a0001c0002t0001g0179others(336): Show | 339 | 340 | 0.9971 | -1 | c.392 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 30/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2754825 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(59): Show |
a0001a0010 | a0001c0002a0001c0004a0001c0012others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(7): Show | a0001c0002t0001g0176a0001c0002t0001g0178a0001c0002t0001g0179others(59): Show | 62 | 340 | 0.1824 | -1 | c.434 others(10): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 34/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2755565 | CT | C | intron_variant | MODIFIER | HG01167.hp2 HG01192.hp2 HG01515.hp1 others(22): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0004a0001c0007others(8): Show | a0001c0002t0002a0001c0004t0002a0001c0007t0011others(14): Show | a0001c0002t0002g0110a0001c0004t0002g0119a0001c0007t0011g0230others(22): Show | 25 | 340 | 0.0735 | -1 | c.434 others(10): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 34/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2762492 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(79): Show |
a0001a0002a0003others(7): Show | a0001c0007a0002c0016a0002c0026others(11): Show | a0001c0007t0016a0002c0016t0023a0002c0016t0034others(21): Show | a0001c0007t0016g0226a0001c0007t0016g0227a0001c0007t0016g0228others(79): Show | 82 | 340 | 0.2412 | -1 | c.456 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 36/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2767584 | CT | C | intron_variant | MODIFIER | HG00621.hp2 HG02486.hp1 HG02630.hp1 others(7): Show |
a0002 | a0002c0001a0002c0010 | a0002c0001t0001a0002c0001t0010a0002c0001t0014others(2): Show | a0002c0001t0001g0268a0002c0001t0001g0273a0002c0001t0001g0274others(7): Show | 10 | 340 | 0.0294 | -1 | c.472 others(10): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 37/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2774126 | AT | A | intron_variant | MODIFIER | HG01192.hp2 HG01884.hp2 HG01891.hp2 others(8): Show |
a0001a0004a0007others(1): Show | a0001c0007a0004c0008a0007c0020others(1): Show | a0001c0007t0011a0004c0008t0011a0004c0008t0017others(3): Show | a0001c0007t0011g0230a0004c0008t0011g0221a0004c0008t0011g0222others(8): Show | 11 | 340 | 0.0324 | -1 | c.517 others(10): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 41/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2775068 | AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(75): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0004a0001c0007others(10): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0018others(22): Show | a0001c0002t0001g0176a0001c0002t0001g0178a0001c0002t0001g0195others(75): Show | 78 | 340 | 0.2294 | -1 | c.517 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 41/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2775524 | TG | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(90): Show |
a0001a0002a0003others(7): Show | a0001c0005a0001c0007a0002c0016others(12): Show | a0001c0005t0016a0001c0007t0004a0001c0007t0011others(26): Show | a0001c0005t0016g0032a0001c0007t0004g0238a0001c0007t0004g0239others(90): Show | 93 | 340 | 0.2735 | -1 | c.517 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 41/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2777062 | TC | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(68): Show |
a0001a0002a0003others(2): Show | a0001c0007a0002c0026a0003c0003others(5): Show | a0001c0007t0004a0001c0007t0013a0002c0026t0001others(12): Show | a0001c0007t0004g0238a0001c0007t0004g0239a0001c0007t0013g0233others(68): Show | 71 | 340 | 0.2088 | -1 | c.536 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 42/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2780213 | CG | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(57): Show |
a0001a0010 | a0001c0002a0001c0004a0001c0012others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0015others(6): Show | a0001c0002t0001g0176a0001c0002t0001g0178a0001c0002t0001g0179others(57): Show | 60 | 340 | 0.1765 | -1 | c.554 others(10): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 44/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2780238 | TA | T | intron_variant | MODIFIER | HG00738.hp2 HG01175.hp2 HG01358.hp1 others(7): Show |
a0001a0002 | a0001c0005a0002c0001a0002c0010 | a0001c0005t0001a0001c0005t0033a0002c0001t0001others(3): Show | a0001c0005t0001g0262a0001c0005t0033g0269a0002c0001t0001g0261others(7): Show | 10 | 340 | 0.0294 | -1 | c.554 others(10): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 44/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2782744 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(64): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0007a0002c0001others(7): Show | a0001c0002t0003a0001c0007t0004a0001c0007t0011others(15): Show | a0001c0002t0003g0015a0001c0002t0003g0202a0001c0007t0004g0238others(64): Show | 67 | 340 | 0.1971 | -1 | c.554 others(10): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 44/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2784947 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(154): Show |
a0001a0002a0006others(3): Show | a0001c0002a0001c0004a0001c0005others(9): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0015others(26): Show | a0001c0002t0001g0176a0001c0002t0001g0178a0001c0002t0001g0179others(154): Show | 157 | 340 | 0.4618 | -1 | c.571 others(9): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 45/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2785647 | CA | C | intron_variant | MODIFIER | HG01081.hp1 HG01167.hp1 HG02723.hp1 others(5): Show |
a0002 | a0002c0001 | a0002c0001t0008a0002c0001t0025 | a0002c0001t0008g0004a0002c0001t0008g0006a0002c0001t0008g0007others(5): Show | 8 | 340 | 0.0235 | -1 | c.571 others(10): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 45/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2786325 | GA | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(57): Show |
a0001a0010 | a0001c0002a0001c0004a0001c0012others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0015others(6): Show | a0001c0002t0001g0176a0001c0002t0001g0178a0001c0002t0001g0179others(57): Show | 60 | 340 | 0.1765 | -1 | c.571 others(10): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 45/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2787521 | AG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(57): Show |
a0001a0010 | a0001c0002a0001c0004a0001c0012others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0015others(6): Show | a0001c0002t0001g0176a0001c0002t0001g0178a0001c0002t0001g0179others(57): Show | 60 | 340 | 0.1765 | -1 | c.571 others(10): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 45/47 | chr18 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2788147 | AC | A | intron_variant | MODIFIER | HG02572.hp2 HG03098.hp1 HG03942.hp2 |
a0002 | a0002c0001 | a0002c0001t0021a0002c0001t0029 | a0002c0001t0021g0247a0002c0001t0021g0339a0002c0001t0029g0338 | 3 | 340 | 0.0088 | -1 | c.571 others(10): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 45/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2789206 | AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(178): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0004a0001c0005others(21): Show | a0001c0002t0002a0001c0002t0048a0001c0004t0002others(51): Show | a0001c0002t0002g0108a0001c0002t0002g0109a0001c0002t0002g0110others(178): Show | 181 | 340 | 0.5324 | -1 | c.571 others(10): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 45/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2793671 | AG | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(179): Show |
a0001a0002a0003others(9): Show | a0001c0005a0001c0007a0001c0009others(19): Show | a0001c0005t0001a0001c0005t0007a0001c0005t0009others(49): Show | a0001c0005t0001g0255a0001c0005t0001g0257a0001c0005t0001g0258others(179): Show | 182 | 340 | 0.5353 | -1 | c.572 others(10): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 45/47 | chr18 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2798349 | CA | C | intron_variant | MODIFIER | HG02630.hp1 HG03486.hp1 NA19030.hp2 |
a0002 | a0002c0001 | a0002c0001t0014a0002c0001t0040 | a0002c0001t0014g0215a0002c0001t0014g0216a0002c0001t0040g0217 | 3 | 340 | 0.0088 | -1 | c.599 others(10): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 47/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2804546 | GT | G | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(328): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0004a0001c0005others(28): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(77): Show | a0001c0002t0001g0176a0001c0002t0001g0178a0001c0002t0001g0179others(328): Show | 331 | 340 | 0.9735 | -1 | c.*19 others(6): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 48/48 | 1999 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||
SMCHD1_chr18_2650726_2810017 | 2805988 | TA | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(328): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0004a0001c0005others(28): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(77): Show | a0001c0002t0001g0176a0001c0002t0001g0178a0001c0002t0001g0179others(328): Show | 331 | 340 | 0.9735 | -1 | c.*34 others(6): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 972 | chr18 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2807937 | CT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(43): Show |
a0001a0010 | a0001c0002a0001c0012a0010c0025 | a0001c0002t0003a0001c0002t0018a0001c0002t0036others(3): Show | a0001c0002t0003g0013a0001c0002t0003g0014a0001c0002t0003g0015others(43): Show | 46 | 340 | 0.1353 | -1 | c.*53 others(6): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 2921 | chr18 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2807953 | AC | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(57): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0005a0001c0007others(5): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0015others(12): Show | a0001c0002t0001g0195a0001c0002t0003g0013a0001c0002t0003g0014others(57): Show | 60 | 340 | 0.1765 | -1 | c.*54 others(6): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 2937 | chr18 | TogoVar |