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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS16_chr5_5135330_5325304 | 5215697 | C | CATATAT | intron_variant | MODIFIER | HG01243.hp1 HG01257.hp2 HG01515.hp1 others(11): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0055a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0039others(9): Show | a0001c0001t0001g0057a0001c0001t0001g0071a0001c0001t0001g0132others(11): Show | 14 | 332 | 0.0422 | 6 | c.160 others(25): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS16_chr5_5135330_5325304 | 5215870 | G | GTATATA | intron_variant | MODIFIER | HG02257.hp2 HG02735.hp1 HG03669.hp2 |
a0001a0002a0007 | a0001c0050a0002c0002a0007c0027 | a0001c0050t0009a0002c0002t0001a0007c0027t0001 | a0001c0050t0009g0067a0002c0002t0001g0269a0007c0027t0001g0251 | 3 | 332 | 0.0090 | 6 | c.160 others(25): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS16_chr5_5135330_5325304 | 5250707 | C | CTGTGTG | intron_variant | MODIFIER | HG02451.hp2 HG02723.hp1 HG03486.hp1 others(1): Show |
a0001a0002a0017 | a0001c0001a0002c0002a0002c0076others(1): Show | a0001c0001t0023a0002c0002t0028a0002c0076t0020others(1): Show | a0001c0001t0023g0233a0002c0002t0028g0206a0002c0076t0020g0277others(1): Show | 4 | 332 | 0.0121 | 6 | c.266 others(25): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS16_chr5_5135330_5325304 | 5305206 | T | TCCCACA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp1 others(76): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0010a0001c0022others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0022a0001c0001t0002g0045a0001c0001t0002g0068others(76): Show | 79 | 332 | 0.2380 | 6 | c.318 others(25): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS16_chr5_5135330_5325304 | 5309827 | C | CGTGTGT | intron_variant | MODIFIER | HG01069.hp1 HG02056.hp2 HG03098.hp1 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0052a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0042others(5): Show | a0001c0001t0001g0020a0001c0001t0007g0104a0001c0001t0042g0088others(5): Show | 8 | 332 | 0.0241 | 6 | c.341 others(25): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS17_chr15_99966437_100346975 | 100109484 | A | AGGGAGG | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00558.hp2 others(26): Show |
a0001a0002a0003others(3): Show | a0001c0005a0001c0010a0001c0014others(20): Show | a0001c0005t0012a0001c0010t0004a0001c0010t0009others(24): Show | a0001c0005t0012g0211a0001c0010t0004g0095a0001c0010t0009g0022others(26): Show | 29 | 228 | 0.1272 | 6 | c.188 others(23): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 13/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100140488 | C | CATATAT | intron_variant | MODIFIER | HG01981.hp2 NA18955.hp2 NA19056.hp2 others(1): Show |
a0001a0003 | a0001c0007a0001c0017a0003c0006others(1): Show | a0001c0007t0018a0001c0017t0002a0003c0006t0001others(1): Show | a0001c0007t0018g0045a0001c0017t0002g0173a0003c0006t0001g0170others(1): Show | 4 | 228 | 0.0175 | 6 | c.147 others(25): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 10/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100184036 | T | TTGCTGC | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG03098.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0007a0002c0055a0003c0009others(2): Show | a0001c0007t0023a0002c0055t0014a0003c0009t0050others(2): Show | a0001c0007t0023g0215a0002c0055t0014g0002a0003c0009t0050g0086others(2): Show | 5 | 228 | 0.0219 | 6 | c.118 others(27): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100236283 | T | TAAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG02895.hp1 HG02897.hp1 others(2): Show |
a0001a0002a0006 | a0001c0021a0001c0033a0002c0004others(1): Show | a0001c0021t0016a0001c0033t0015a0002c0004t0017others(1): Show | a0001c0021t0016g0113a0001c0033t0015g0178a0002c0004t0017g0128others(2): Show | 5 | 228 | 0.0219 | 6 | c.107 others(27): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 7/21 | chr15 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77314625 | A | ATGTGTG | intron_variant | MODIFIER | HG00423.hp1 HG02015.hp1 HG02602.hp2 others(6): Show |
a0006a0009a0010others(1): Show | a0006c0005a0009c0009a0010c0013others(1): Show | a0006c0005t0003a0006c0005t0012a0009c0009t0001others(2): Show | a0006c0005t0003g0157a0006c0005t0012g0056a0009c0009t0001g0020others(6): Show | 9 | 326 | 0.0276 | 6 | c.253 others(25): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 16/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77314753 | C | CATATAT | intron_variant | MODIFIER | HG00609.hp2 HG02027.hp2 HG02523.hp1 others(3): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0002a0004c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0003c0002t0027others(2): Show | a0001c0001t0002g0076a0001c0001t0004g0072a0001c0001t0004g0104others(3): Show | 6 | 326 | 0.0184 | 6 | c.253 others(25): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 16/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77326421 | T | TCCAACA | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp2 others(136): Show |
a0001a0003a0006others(15): Show | a0001c0001a0001c0016a0001c0023others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(53): Show | a0001c0001t0001g0119a0001c0001t0002g0001a0001c0001t0002g0025others(135): Show | 139 | 326 | 0.4264 | 6 | c.186 others(23): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 12/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77344155 | G | GTATATA | intron_variant | MODIFIER | HG00642.hp1 HG01256.hp1 HG01258.hp2 others(2): Show |
a0005a0023a0040 | a0005c0022a0023c0034a0040c0064 | a0005c0022t0001a0023c0034t0009a0040c0064t0001 | a0005c0022t0001g0207a0005c0022t0001g0275a0023c0034t0009g0252others(2): Show | 5 | 326 | 0.0153 | 6 | c.161 others(25): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 10/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77355202 | T | TTGTGTG | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(34): Show |
a0002a0003a0006others(5): Show | a0002c0007a0003c0002a0006c0005others(6): Show | a0002c0007t0004a0002c0007t0005a0003c0002t0006others(15): Show | a0002c0007t0004g0125a0002c0007t0005g0005a0003c0002t0006g0013others(34): Show | 37 | 326 | 0.1135 | 6 | c.146 others(23): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 9/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77360581 | A | AAACATC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(133): Show |
a0002a0003a0004others(19): Show | a0002c0007a0002c0055a0002c0057others(25): Show | a0002c0007t0004a0002c0007t0005a0002c0007t0036others(55): Show | a0002c0007t0004g0070a0002c0007t0004g0125a0002c0007t0004g0133others(133): Show | 136 | 326 | 0.4172 | 6 | c.121 others(25): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 7/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77365179 | A | AAACAAC | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(46): Show |
a0002a0003a0006others(5): Show | a0002c0007a0003c0002a0006c0005others(6): Show | a0002c0007t0004a0003c0002t0006a0006c0005t0003others(14): Show | a0002c0007t0004g0125a0002c0007t0004g0133a0003c0002t0006g0013others(46): Show | 49 | 326 | 0.1503 | 6 | c.779 others(21): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 4/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77370790 | G | GATATAT | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02615.hp1 others(10): Show |
a0004a0012a0024others(1): Show | a0004c0003a0012c0012a0024c0032others(1): Show | a0004c0003t0005a0004c0003t0011a0004c0003t0034others(3): Show | a0004c0003t0005g0007a0004c0003t0005g0008a0004c0003t0005g0043others(10): Show | 13 | 326 | 0.0399 | 6 | c.496 others(23): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77371218 | T | TAAAAAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(32): Show |
a0002a0005a0007others(6): Show | a0002c0007a0005c0004a0005c0052others(7): Show | a0002c0007t0004a0005c0004t0001a0005c0004t0015others(11): Show | a0002c0007t0004g0267a0002c0007t0004g0268a0005c0004t0001g0027others(32): Show | 35 | 326 | 0.1074 | 6 | c.496 others(23): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77398319 | A | AAACAAC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(31): Show |
a0001a0002a0004others(6): Show | a0001c0001a0002c0007a0004c0029others(6): Show | a0001c0001t0001a0001c0001t0002a0002c0007t0004others(13): Show | a0001c0001t0001g0119a0001c0001t0002g0128a0002c0007t0004g0125others(31): Show | 34 | 326 | 0.1043 | 6 | c.496 others(25): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77400458 | G | GTGTGTC | intron_variant | MODIFIER | HG02055.hp1 HG03471.hp2 NA19043.hp2 |
a0002a0004 | a0002c0007a0004c0003 | a0002c0007t0004a0004c0003t0011 | a0002c0007t0004g0218a0004c0003t0011g0042a0004c0003t0011g0106 | 3 | 326 | 0.0092 | 6 | c.495 others(25): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77411677 | A | ATTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG01433.hp2 HG02622.hp1 others(4): Show |
a0001a0011a0012others(3): Show | a0001c0001a0011c0011a0012c0012others(3): Show | a0001c0001t0002a0011c0011t0009a0012c0012t0010others(3): Show | a0001c0001t0002g0037a0001c0001t0002g0249a0011c0011t0009g0105others(4): Show | 7 | 326 | 0.0215 | 6 | c.495 others(25): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77415725 | C | CAAAAAA | intron_variant | MODIFIER | HG00558.hp1 HG00741.hp1 HG01074.hp1 others(35): Show |
a0001a0002a0003others(14): Show | a0001c0001a0002c0006a0002c0007others(15): Show | a0001c0001t0002a0001c0001t0041a0002c0006t0004others(19): Show | a0001c0001t0002g0134a0001c0001t0002g0194a0001c0001t0002g0209others(35): Show | 38 | 326 | 0.1166 | 6 | c.495 others(25): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77436012 | A | ATGTGTG | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00621.hp1 others(12): Show |
a0002a0003a0004others(6): Show | a0002c0007a0003c0002a0004c0003others(8): Show | a0002c0007t0005a0003c0002t0006a0003c0002t0007others(9): Show | a0002c0007t0005g0009a0003c0002t0006g0130a0003c0002t0007g0041others(12): Show | 15 | 326 | 0.0460 | 6 | c.-13 others(17): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 979 | chr16 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129459190 | C | CGTGTGT | upstream_gene_variant | MODIFIER | HG02965.hp1 HG03130.hp2 HG03139.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0005a0001c0003t0001a0002c0004t0001others(1): Show | a0001c0001t0005g0221a0001c0003t0001g0217a0002c0004t0001g0094others(1): Show | 4 | 226 | 0.0177 | 6 | c.-12 others(17): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 1107 | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129461622 | T | TCCCGGC | conservative_inframe_insertion | MODERATE | HG00438.hp1 HG00544.hp1 HG00597.hp2 others(55): Show |
a0002a0006 | a0002c0002a0002c0004a0002c0011others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(10): Show | a0002c0002t0001g0057a0002c0002t0001g0060a0002c0002t0001g0062others(55): Show | 58 | 226 | 0.2566 | 6 | c.622 others(13): Show |
p.Gly others(13): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 2/23 | 722/5201 | 628/3642 | 210/1213 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
ADAMTS19_chr5_129455298_129743683 | 129492506 | A | AGTGTGT | intron_variant | MODIFIER | HG02976.hp1 HG02976.hp2 HG03209.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0015others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0045a0001c0001t0002g0016a0001c0003t0001g0214others(2): Show | 5 | 226 | 0.0221 | 6 | c.748 others(25): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129504872 | G | GACACAC | intron_variant | MODIFIER | HG02056.hp1 NA19081.hp1 NA19082.hp1 |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0119a0001c0003t0001g0214a0002c0002t0001g0106 | 3 | 226 | 0.0133 | 6 | c.748 others(23): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129510856 | G | GATATAT | intron_variant | MODIFIER | HG00423.hp2 HG01081.hp1 HG01167.hp1 others(7): Show |
a0001a0002a0007 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0007a0001c0009t0001others(3): Show | a0001c0001t0002g0031a0001c0001t0002g0032a0001c0001t0002g0035others(7): Show | 10 | 226 | 0.0443 | 6 | c.913 others(23): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129522330 | C | CATATAT | intron_variant | MODIFIER | HG01978.hp2 HG02257.hp1 |
a0001a0008 | a0001c0001a0008c0020 | a0001c0001t0002a0008c0020t0001 | a0001c0001t0002g0046a0008c0020t0001g0207 | 2 | 226 | 0.0089 | 6 | c.914 others(23): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129522332 | C | CATATAT | intron_variant | MODIFIER | HG01257.hp2 HG01261.hp2 HG02074.hp1 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(6): Show | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0020others(14): Show | 17 | 226 | 0.0752 | 6 | c.914 others(23): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129578041 | T | TACACAC | intron_variant | MODIFIER | HG01261.hp2 HG02145.hp2 HG02258.hp1 others(10): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0039a0001c0001t0002g0175a0001c0001t0002g0176others(10): Show | 13 | 226 | 0.0575 | 6 | c.137 others(27): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129602826 | C | CTCTGTG | intron_variant | MODIFIER | HG02451.hp1 HG03098.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037a0001c0001t0002g0038a0001c0001t0002g0185 | 3 | 226 | 0.0133 | 6 | c.147 others(25): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129602826 | C | CTGTGTG | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG00639.hp2 others(27): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(8): Show | a0001c0001t0001g0033a0001c0001t0001g0184a0001c0001t0002g0031others(27): Show | 30 | 226 | 0.1327 | 6 | c.147 others(25): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129607994 | C | CTATATA | intron_variant | MODIFIER | HG00642.hp1 HG02622.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0045others(1): Show | 4 | 226 | 0.0177 | 6 | c.147 others(27): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129608090 | A | ATGTGTG | intron_variant | MODIFIER | HG02486.hp1 HG02630.hp2 HG02896.hp2 others(3): Show |
a0001a0004a0006 | a0001c0001a0001c0008a0004c0007others(1): Show | a0001c0001t0007a0001c0008t0002a0001c0008t0004others(2): Show | a0001c0001t0007g0113a0001c0008t0002g0013a0001c0008t0004g0011others(3): Show | 6 | 226 | 0.0266 | 6 | c.147 others(27): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129608116 | G | GTGTATA | intron_variant | MODIFIER | HG01081.hp1 HG01978.hp2 |
a0001a0008 | a0001c0001a0008c0020 | a0001c0001t0002a0008c0020t0001 | a0001c0001t0002g0035a0008c0020t0001g0207 | 2 | 226 | 0.0089 | 6 | c.147 others(27): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129608116 | G | GTGTGTA | intron_variant | MODIFIER | HG01261.hp2 HG01943.hp1 HG02071.hp2 others(1): Show |
a0001a0002a0009 | a0001c0001a0001c0010a0002c0004others(1): Show | a0001c0001t0002a0001c0010t0001a0002c0004t0001others(1): Show | a0001c0001t0002g0180a0001c0010t0001g0058a0002c0004t0001g0112others(1): Show | 4 | 226 | 0.0177 | 6 | c.147 others(27): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129658309 | A | AAGAGAG | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01884.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0003t0010others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0020others(10): Show | 14 | 226 | 0.0620 | 6 | c.230 others(23): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129658321 | G | GAAAGAA | intron_variant | MODIFIER | HG01496.hp1 HG02109.hp2 HG02572.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0033a0001c0001t0002g0043a0001c0001t0002g0178others(1): Show | 4 | 226 | 0.0177 | 6 | c.230 others(23): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129662888 | A | ATTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01884.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0001a0001c0003t0010a0001c0009t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0020a0001c0001t0001g0021others(8): Show | 12 | 226 | 0.0531 | 6 | c.242 others(25): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129665881 | C | CATATAT | intron_variant | MODIFIER | HG01243.hp1 HG02486.hp1 HG02970.hp2 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0008 | a0001c0001t0001g0017a0004c0007t0008g0026a0004c0007t0008g0027 | 3 | 226 | 0.0133 | 6 | c.250 others(23): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS20_chr12_43348866_43557203 | 43404178 | G | GACACAC | intron_variant | MODIFIER | HG00597.hp2 HG01256.hp1 HG01346.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0168a0001c0002t0001g0052a0001c0002t0001g0092others(12): Show | 15 | 306 | 0.0490 | 6 | c.428 others(25): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43405229 | C | CCAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp1 HG02698.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0021 | a0001c0001t0001a0001c0002t0001a0001c0021t0001 | a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0034others(10): Show | 13 | 306 | 0.0425 | 6 | c.428 others(25): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43409601 | C | CAAAAAA | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp2 HG01169.hp2 others(11): Show |
a0001a0004a0012 | a0001c0002a0001c0003a0004c0006others(1): Show | a0001c0002t0002a0001c0003t0001a0004c0006t0001others(1): Show | a0001c0002t0002g0283a0001c0002t0002g0287a0001c0002t0002g0292others(11): Show | 14 | 306 | 0.0458 | 6 | c.428 others(27): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43421280 | T | TACACAC | intron_variant | MODIFIER | HG00140.hp1 HG02071.hp2 HG02293.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0028a0001c0001t0001g0029others(16): Show | 19 | 306 | 0.0621 | 6 | c.428 others(25): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43421282 | C | CAAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG01106.hp1 HG02258.hp2 others(18): Show |
a0001a0003a0007others(2): Show | a0001c0002a0001c0003a0001c0005others(6): Show | a0001c0002t0001a0001c0003t0001a0001c0005t0001others(6): Show | a0001c0002t0001g0121a0001c0003t0001g0187a0001c0003t0001g0203others(18): Show | 21 | 306 | 0.0686 | 6 | c.428 others(25): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43421282 | C | CACAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(54): Show |
a0001a0013a0014 | a0001c0001a0001c0009a0001c0021others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(54): Show | 57 | 306 | 0.1863 | 6 | c.428 others(25): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43421282 | C | CACACAA | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp1 others(32): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0001c0001t0005a0006c0008t0001 | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0026others(32): Show | 35 | 306 | 0.1144 | 6 | c.428 others(25): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43445677 | T | TACACAC | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp2 others(56): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0001c0001t0005a0006c0008t0001 | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0025others(56): Show | 59 | 306 | 0.1928 | 6 | c.219 others(23): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 15/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43501055 | C | CTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(113): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0019others(113): Show | 116 | 306 | 0.3791 | 6 | c.867 others(23): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar |