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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AUTS2_chr7_69593475_70798506 | 70763153 | A | G | synonymous_variant | LOW | HG02055.hp2 HG02258.hp1 HG02615.hp2 others(6): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0010 | a0001c0003t0008a0001c0003t0027a0002c0002t0001others(5): Show | a0001c0003t0008g0039a0001c0003t0008g0069a0001c0003t0027g0009others(6): Show | 9 | 76 | 0.1184 | 0 | c.102 others(4): Show |
p.Pro others(6): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 7/19 | 2205/7469 | 1026/3780 | 342/1259 | chr7 | TogoVar | ||
AUTS2_chr7_69593475_70798506 | 70763189 | G | A | synonymous_variant | LOW | NA19030.hp2 NA19240.hp2 |
a0001 | a0001c0004 | a0001c0004t0012a0001c0004t0013 | a0001c0004t0012g0024a0001c0004t0013g0025 | 2 | 76 | 0.0263 | 0 | c.106 others(4): Show |
p.Pro others(6): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 7/19 | 2241/7469 | 1062/3780 | 354/1259 | chr7 | TogoVar | ||
AUTS2_chr7_69593475_70798506 | 70774048 | C | T | synonymous_variant | LOW | HG03540.hp1 | a0001 | a0001c0008 | a0001c0008t0017 | a0001c0008t0017g0046 | 1 | 76 | 0.0132 | 0 | c.185 others(4): Show |
p.Val others(6): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 12/19 | 3030/7469 | 1851/3780 | 617/1259 | chr7 | TogoVar | ||
AUTS2_chr7_69593475_70798506 | 70781665 | G | A | synonymous_variant | LOW | HG02622.hp1 HG03041.hp1 |
a0001a0002 | a0001c0005a0002c0010 | a0001c0005t0030a0002c0010t0033 | a0001c0005t0030g0013a0002c0010t0033g0014 | 2 | 76 | 0.0263 | 0 | c.205 others(4): Show |
p.Glu others(6): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 15/19 | 3234/7469 | 2055/3780 | 685/1259 | chr7 | TogoVar | ||
AUTS2_chr7_69593475_70798506 | 70790000 | C | T | synonymous_variant | LOW | HG01243.hp2 | a0001 | a0001c0007 | a0001c0007t0006 | a0001c0007t0006g0027 | 1 | 76 | 0.0132 | 0 | c.278 others(4): Show |
p.Ala others(6): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 19/19 | 3963/7469 | 2784/3780 | 928/1259 | chr7 | TogoVar | ||
AVEN_chr15_33861227_34044204 | 33870989 | G | C | synonymous_variant | LOW | HG04204.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0164 | 1 | 266 | 0.0038 | 0 | c.558 others(3): Show |
p.Ala others(6): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 4/6 | 716/1633 | 558/1089 | 186/362 | chr15 | TogoVar | ||
AVIL_chr12_57792380_57823734 | 57801171 | A | G | synonymous_variant | LOW | HG00544.hp2 HG02683.hp2 HG03492.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0026 | 3 | 372 | 0.0081 | 0 | c.219 others(4): Show |
p.Asp others(6): Show |
AVIL | ENSG00000135407.11 | transcript | ENST00000549994.2 | protein_coding | 18/20 | 2318/3087 | 2193/2460 | 731/819 | chr12 | TogoVar | ||
AVIL_chr12_57792380_57823734 | 57803580 | C | T | synonymous_variant | LOW | HG02300.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0102 | 1 | 372 | 0.0027 | 0 | c.176 others(4): Show |
p.Glu others(6): Show |
AVIL | ENSG00000135407.11 | transcript | ENST00000549994.2 | protein_coding | 15/20 | 1886/3087 | 1761/2460 | 587/819 | chr12 | TogoVar | ||
AVIL_chr12_57792380_57823734 | 57807346 | C | T | synonymous_variant | LOW | HG01891.hp2 HG02451.hp2 HG02572.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0011a0001c0002t0002g0137a0001c0002t0002g0162 | 6 | 372 | 0.0161 | 0 | c.147 others(4): Show |
p.Lys others(6): Show |
AVIL | ENSG00000135407.11 | transcript | ENST00000549994.2 | protein_coding | 13/20 | 1601/3087 | 1476/2460 | 492/819 | chr12 | TogoVar | ||
AVIL_chr12_57792380_57823734 | 57814206 | C | T | synonymous_variant | LOW | HG00423.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0193 | 1 | 372 | 0.0027 | 0 | c.87G others(2): Show |
p.Val others(5): Show |
AVIL | ENSG00000135407.11 | transcript | ENST00000549994.2 | protein_coding | 3/20 | 212/3087 | 87/2460 | 29/819 | chr12 | TogoVar | ||
AVIL_chr12_57792380_57823734 | 57814211 | G | A | synonymous_variant | LOW | HG00597.hp1 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0169 | 1 | 372 | 0.0027 | 0 | c.82C others(2): Show |
p.Leu others(5): Show |
AVIL | ENSG00000135407.11 | transcript | ENST00000549994.2 | protein_coding | 3/20 | 207/3087 | 82/2460 | 28/819 | chr12 | TogoVar | ||
AVIL_chr12_57792380_57823734 | 57816005 | G | A | synonymous_variant | LOW | HG01175.hp1 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0203 | 1 | 372 | 0.0027 | 0 | c.36C others(2): Show |
p.Asn others(5): Show |
AVIL | ENSG00000135407.11 | transcript | ENST00000549994.2 | protein_coding | 2/20 | 161/3087 | 36/2460 | 12/819 | chr12 | TogoVar | ||
AVL9_chr7_32490489_32593726 | 32543170 | A | C | synonymous_variant | LOW | HG02451.hp1 HG02486.hp2 HG02615.hp2 others(3): Show |
a0001 | a0001c0006 | a0001c0006t0004a0001c0006t0007a0001c0006t0022others(1): Show | a0001c0006t0004g0011a0001c0006t0004g0040a0001c0006t0004g0043others(3): Show | 6 | 330 | 0.0182 | 0 | c.123 others(3): Show |
p.Pro others(5): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 2/16 | 344/6987 | 123/1947 | 41/648 | chr7 | TogoVar | ||
AVL9_chr7_32490489_32593726 | 32551357 | A | G | synonymous_variant | LOW | HG02886.hp2 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0145 | 1 | 330 | 0.0030 | 0 | c.396 others(3): Show |
p.Ala others(6): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 5/16 | 617/6987 | 396/1947 | 132/648 | chr7 | TogoVar | ||
AVL9_chr7_32490489_32593726 | 32559044 | C | T | synonymous_variant | LOW | HG00408.hp2 HG00544.hp2 HG00621.hp2 others(71): Show |
a0001a0002 | a0001c0004a0001c0008a0001c0009others(2): Show | a0001c0004t0021a0001c0004t0031a0001c0004t0040others(34): Show | a0001c0004t0021g0157a0001c0004t0021g0160a0001c0004t0021g0162others(71): Show | 74 | 330 | 0.2242 | 0 | c.795 others(3): Show |
p.Ser others(6): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 10/16 | 1016/6987 | 795/1947 | 265/648 | chr7 | TogoVar | ||
AVL9_chr7_32490489_32593726 | 32573225 | T | C | synonymous_variant | LOW | HG01243.hp1 HG01255.hp1 HG01884.hp2 others(6): Show |
a0003 | a0003c0005 | a0003c0005t0023a0003c0005t0062a0003c0005t0063others(4): Show | a0003c0005t0023g0143a0003c0005t0023g0317a0003c0005t0023g0321others(6): Show | 9 | 330 | 0.0273 | 0 | c.137 others(4): Show |
p.His others(6): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 12/16 | 1598/6987 | 1377/1947 | 459/648 | chr7 | TogoVar | ||
AVL9_chr7_32490489_32593726 | 32573378 | G | A | synonymous_variant | LOW | NA19043.hp1 | a0001 | a0001c0011 | a0001c0011t0003 | a0001c0011t0003g0020 | 1 | 330 | 0.0030 | 0 | c.153 others(4): Show |
p.Ala others(6): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 12/16 | 1751/6987 | 1530/1947 | 510/648 | chr7 | TogoVar | ||
AVL9_chr7_32490489_32593726 | 32573408 | A | G | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(189): Show |
a0001a0003a0004 | a0001c0001a0001c0006a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(88): Show | a0001c0001t0001g0012a0001c0001t0001g0048a0001c0001t0001g0176others(189): Show | 192 | 330 | 0.5818 | 0 | c.156 others(4): Show |
p.Thr others(6): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 12/16 | 1781/6987 | 1560/1947 | 520/648 | chr7 | TogoVar | ||
AVL9_chr7_32490489_32593726 | 32575992 | T | C | synonymous_variant | LOW | HG02055.hp2 HG03195.hp2 HG03225.hp1 |
a0001 | a0001c0009 | a0001c0009t0037a0001c0009t0068 | a0001c0009t0037g0312a0001c0009t0037g0313a0001c0009t0068g0314 | 3 | 330 | 0.0091 | 0 | c.160 others(4): Show |
p.Phe others(6): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/16 | 1829/6987 | 1608/1947 | 536/648 | chr7 | TogoVar | ||
AVL9_chr7_32490489_32593726 | 32583865 | C | G | synonymous_variant | LOW | HG00408.hp2 HG00544.hp2 HG00621.hp2 others(63): Show |
a0001a0002 | a0001c0004a0002c0003a0002c0012 | a0001c0004t0021a0001c0004t0031a0001c0004t0040others(27): Show | a0001c0004t0021g0157a0001c0004t0021g0160a0001c0004t0021g0162others(63): Show | 66 | 330 | 0.2000 | 0 | c.190 others(4): Show |
p.Ser others(6): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 16/16 | 2126/6987 | 1905/1947 | 635/648 | chr7 | TogoVar | ||
AVL9_chr7_32490489_32593726 | 32583868 | C | T | synonymous_variant | LOW | HG00733.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
a0001 | a0001c0007 | a0001c0007t0016 | a0001c0007t0016g0055a0001c0007t0016g0056a0001c0007t0016g0306others(2): Show | 5 | 330 | 0.0152 | 0 | c.190 others(4): Show |
p.Thr others(6): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 16/16 | 2129/6987 | 1908/1947 | 636/648 | chr7 | TogoVar | ||
AVPI1_chr10_97672424_97692241 | 97679825 | C | T | synonymous_variant | LOW | HG02109.hp2 HG02486.hp1 HG02572.hp1 others(10): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0005 | a0001c0004t0001g0192a0001c0004t0001g0193a0001c0004t0001g0194others(10): Show | 13 | 446 | 0.0292 | 0 | c.81G others(2): Show |
p.Ser others(5): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/3 | 567/1375 | 81/444 | 27/147 | chr10 | TogoVar | ||
AVPR1A_chr12_63137759_63156201 | 63150267 | G | C | synonymous_variant | LOW | HG01069.hp1 HG01071.hp2 |
a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0059 | 2 | 448 | 0.0045 | 0 | c.570 others(3): Show |
p.Ser others(6): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 1/2 | 935/6222 | 570/1257 | 190/418 | chr12 | TogoVar | ||
AVPR1A_chr12_63137759_63156201 | 63150354 | T | C | synonymous_variant | LOW | HG02886.hp1 | a0002 | a0002c0007 | a0002c0007t0009 | a0002c0007t0009g0067 | 1 | 448 | 0.0022 | 0 | c.483 others(3): Show |
p.Gln others(6): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 1/2 | 848/6222 | 483/1257 | 161/418 | chr12 | TogoVar | ||
AVPR1A_chr12_63137759_63156201 | 63150359 | G | A | synonymous_variant | LOW | HG03471.hp2 | a0001 | a0001c0013 | a0001c0013t0057 | a0001c0013t0057g0142 | 1 | 448 | 0.0022 | 0 | c.478 others(3): Show |
p.Leu others(6): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 1/2 | 843/6222 | 478/1257 | 160/418 | chr12 | TogoVar | ||
AVPR1A_chr12_63137759_63156201 | 63150369 | C | T | synonymous_variant | LOW | HG03471.hp2 | a0001 | a0001c0013 | a0001c0013t0057 | a0001c0013t0057g0142 | 1 | 448 | 0.0022 | 0 | c.468 others(3): Show |
p.Pro others(6): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 1/2 | 833/6222 | 468/1257 | 156/418 | chr12 | TogoVar | ||
AVPR1A_chr12_63137759_63156201 | 63150429 | A | G | synonymous_variant | LOW | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(273): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0006a0001c0013others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(46): Show | a0001c0001t0002g0002a0001c0001t0002g0006a0001c0001t0002g0013others(107): Show | 276 | 448 | 0.6161 | 0 | c.408 others(3): Show |
p.Phe others(6): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 1/2 | 773/6222 | 408/1257 | 136/418 | chr12 | TogoVar | ||
AVPR1A_chr12_63137759_63156201 | 63150546 | G | A | synonymous_variant | LOW | HG01884.hp1 HG02109.hp1 HG02109.hp2 others(14): Show |
a0002 | a0002c0003a0002c0007 | a0002c0003t0009a0002c0003t0011a0002c0003t0020others(4): Show | a0002c0003t0009g0022a0002c0003t0009g0040a0002c0003t0011g0021others(7): Show | 17 | 448 | 0.0380 | 0 | c.291 others(3): Show |
p.Asp others(5): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 1/2 | 656/6222 | 291/1257 | 97/418 | chr12 | TogoVar | ||
AVPR1A_chr12_63137759_63156201 | 63150638 | G | A | synonymous_variant | LOW | HG03471.hp2 | a0001 | a0001c0013 | a0001c0013t0057 | a0001c0013t0057g0142 | 1 | 448 | 0.0022 | 0 | c.199 others(3): Show |
p.Leu others(5): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 1/2 | 564/6222 | 199/1257 | 67/418 | chr12 | TogoVar | ||
AVPR1B_chr1_206101936_206122388 | 206110345 | C | T | synonymous_variant | LOW | HG00544.hp1 HG00673.hp2 HG01069.hp1 others(99): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0004a0002c0002others(4): Show | a0001c0003t0008a0001c0003t0012a0001c0003t0027others(36): Show | a0001c0003t0008g0012a0001c0003t0008g0013a0001c0003t0012g0021others(46): Show | 102 | 396 | 0.2576 | 0 | c.111 others(4): Show |
p.Ser others(6): Show |
AVPR1B | ENSG00000198049.7 | transcript | ENST00000367126.5 | protein_coding | 2/2 | 1617/5026 | 1119/1275 | 373/424 | chr1 | TogoVar | ||
AVPR1B_chr1_206101936_206122388 | 206116219 | A | G | synonymous_variant | LOW | HG01109.hp1 HG01884.hp2 HG02055.hp1 others(19): Show |
a0001 | a0001c0003a0001c0012 | a0001c0003t0008a0001c0003t0012a0001c0003t0027others(7): Show | a0001c0003t0008g0012a0001c0003t0008g0013a0001c0003t0012g0021others(10): Show | 22 | 396 | 0.0556 | 0 | c.672 others(3): Show |
p.His others(6): Show |
AVPR1B | ENSG00000198049.7 | transcript | ENST00000367126.5 | protein_coding | 1/2 | 1170/5026 | 672/1275 | 224/424 | chr1 | TogoVar | ||
AVPR1B_chr1_206101936_206122388 | 206116387 | T | C | synonymous_variant | LOW | HG03209.hp1 | a0003 | a0003c0010 | a0003c0010t0078 | a0003c0010t0078g0119 | 1 | 396 | 0.0025 | 0 | c.504 others(3): Show |
p.Gln others(6): Show |
AVPR1B | ENSG00000198049.7 | transcript | ENST00000367126.5 | protein_coding | 1/2 | 1002/5026 | 504/1275 | 168/424 | chr1 | TogoVar | ||
AVPR1B_chr1_206101936_206122388 | 206116501 | C | G | synonymous_variant | LOW | HG01109.hp2 HG02109.hp2 HG02280.hp2 others(8): Show |
a0003 | a0003c0005a0003c0009a0003c0010 | a0003c0005t0022a0003c0005t0037a0003c0005t0079others(5): Show | a0003c0005t0022g0030a0003c0005t0037g0048a0003c0005t0079g0116others(5): Show | 11 | 396 | 0.0278 | 0 | c.390 others(3): Show |
p.Leu others(6): Show |
AVPR1B | ENSG00000198049.7 | transcript | ENST00000367126.5 | protein_coding | 1/2 | 888/5026 | 390/1275 | 130/424 | chr1 | TogoVar | ||
AVPR2_chrX_153899673_153912166 | 153905157 | G | A | synonymous_variant | LOW | HG02109.hp2 HG02258.hp1 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0003 | 2 | 322 | 0.0062 | 0 | c.12G others(2): Show |
p.Ala others(4): Show |
AVPR2 | ENSG00000126895.16 | transcript | ENST00000646375.2 | protein_coding | 2/4 | 283/1825 | 12/1116 | 4/371 | chrX | TogoVar | ||
AVPR2_chrX_153899673_153912166 | 153905611 | G | A | synonymous_variant | LOW | HG02559.hp2 | a0001 | a0001c0013 | a0001c0013t0008 | a0001c0013t0008g0001 | 1 | 322 | 0.0031 | 0 | c.105 others(3): Show |
p.Leu others(5): Show |
AVPR2 | ENSG00000126895.16 | transcript | ENST00000646375.2 | protein_coding | 3/4 | 376/1825 | 105/1116 | 35/371 | chrX | TogoVar | ||
AVPR2_chrX_153899673_153912166 | 153905632 | G | A | synonymous_variant | LOW | NA18997.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0001 | 1 | 322 | 0.0031 | 0 | c.126 others(3): Show |
p.Ala others(5): Show |
AVPR2 | ENSG00000126895.16 | transcript | ENST00000646375.2 | protein_coding | 3/4 | 397/1825 | 126/1116 | 42/371 | chrX | TogoVar | ||
AVPR2_chrX_153899673_153912166 | 153905947 | G | A | synonymous_variant | LOW | HG01192.hp1 HG03490.hp1 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0001 | 2 | 322 | 0.0062 | 0 | c.441 others(3): Show |
p.Ala others(6): Show |
AVPR2 | ENSG00000126895.16 | transcript | ENST00000646375.2 | protein_coding | 3/4 | 712/1825 | 441/1116 | 147/371 | chrX | TogoVar | ||
AVPR2_chrX_153899673_153912166 | 153906539 | A | G | synonymous_variant | LOW | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(229): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0007others(11): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(18): Show | 232 | 322 | 0.7205 | 0 | c.927 others(3): Show |
p.Leu others(6): Show |
AVPR2 | ENSG00000126895.16 | transcript | ENST00000646375.2 | protein_coding | 4/4 | 1198/1825 | 927/1116 | 309/371 | chrX | TogoVar | ||
AVPR2_chrX_153899673_153912166 | 153906605 | C | T | synonymous_variant | LOW | HG00140.hp1 HG00597.hp1 HG01261.hp1 others(27): Show |
a0001a0002a0005others(1): Show | a0001c0004a0001c0013a0002c0003others(2): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0007others(5): Show | a0001c0004t0001g0001a0001c0004t0001g0002a0001c0004t0002g0001others(6): Show | 30 | 322 | 0.0932 | 0 | c.993 others(3): Show |
p.Ser others(6): Show |
AVPR2 | ENSG00000126895.16 | transcript | ENST00000646375.2 | protein_coding | 4/4 | 1264/1825 | 993/1116 | 331/371 | chrX | TogoVar | ||
AVPR2_chrX_153899673_153912166 | 153906725 | G | A | synonymous_variant | LOW | HG01884.hp2 HG02976.hp1 |
a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0001 | 2 | 322 | 0.0062 | 0 | c.111 others(4): Show |
p.Ser others(6): Show |
AVPR2 | ENSG00000126895.16 | transcript | ENST00000646375.2 | protein_coding | 4/4 | 1384/1825 | 1113/1116 | 371/371 | chrX | TogoVar | ||
AVP_chr20_3077556_3089724 | 3083149 | G | T | synonymous_variant | LOW | HG01891.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0035 | 1 | 468 | 0.0021 | 0 | c.150 others(3): Show |
p.Gly others(5): Show |
AVP | ENSG00000101200.5 | transcript | ENST00000380293.3 | protein_coding | 2/3 | 200/619 | 150/495 | 50/164 | chr20 | TogoVar | ||
AVP_chr20_3077556_3089724 | 3084597 | C | G | synonymous_variant | LOW | HG01975.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0023 | 1 | 468 | 0.0021 | 0 | c.78G others(2): Show |
p.Pro others(5): Show |
AVP | ENSG00000101200.5 | transcript | ENST00000380293.3 | protein_coding | 1/3 | 128/619 | 78/495 | 26/164 | chr20 | TogoVar | ||
AWAT1_chrX_70229655_70245659 | 70237046 | C | T | splice_region_variant others(1): Show |
LOW | HG03139.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0003 | 1 | 315 | 0.0032 | 0 | c.258 others(3): Show |
p.Ile others(5): Show |
AWAT1 | ENSG00000204195.4 | transcript | ENST00000374521.4 | protein_coding | 4/7 | 299/1397 | 258/987 | 86/328 | chrX | TogoVar | ||
AWAT1_chrX_70229655_70245659 | 70237196 | G | A | synonymous_variant | LOW | HG03017.hp1 HG03688.hp1 HG03704.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001a0001c0003t0001g0011 | 4 | 315 | 0.0127 | 0 | c.408 others(3): Show |
p.Thr others(6): Show |
AWAT1 | ENSG00000204195.4 | transcript | ENST00000374521.4 | protein_coding | 4/7 | 449/1397 | 408/987 | 136/328 | chrX | TogoVar | ||
AWAT2_chrX_70035542_70054938 | 70041880 | G | A | synonymous_variant | LOW | NA18951.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0039 | 1 | 338 | 0.0030 | 0 | c.930 others(3): Show |
p.Ala others(6): Show |
AWAT2 | ENSG00000147160.9 | transcript | ENST00000276101.7 | protein_coding | 7/8 | 936/2124 | 930/1002 | 310/333 | chrX | TogoVar | ||
AWAT2_chrX_70035542_70054938 | 70043623 | A | G | synonymous_variant | LOW | HG03579.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0047 | 1 | 338 | 0.0030 | 0 | c.327 others(3): Show |
p.His others(6): Show |
AWAT2 | ENSG00000147160.9 | transcript | ENST00000276101.7 | protein_coding | 4/8 | 333/2124 | 327/1002 | 109/333 | chrX | TogoVar | ||
AWAT2_chrX_70035542_70054938 | 70043662 | G | A | synonymous_variant | LOW | HG02257.hp1 HG02965.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 | 2 | 338 | 0.0059 | 0 | c.288 others(3): Show |
p.Ile others(5): Show |
AWAT2 | ENSG00000147160.9 | transcript | ENST00000276101.7 | protein_coding | 4/8 | 294/2124 | 288/1002 | 96/333 | chrX | TogoVar | ||
AXDND1_chr1_179360971_179559735 | 179378697 | T | C | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(181): Show |
a0001a0002a0005others(5): Show | a0001c0002a0001c0006a0001c0011others(10): Show | a0001c0002t0001a0001c0006t0001a0001c0011t0001others(10): Show | a0001c0002t0001g0081a0001c0002t0001g0082a0001c0002t0001g0083others(181): Show | 184 | 356 | 0.5169 | 0 | c.435 others(3): Show |
p.Val others(6): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 5/26 | 571/3391 | 435/3039 | 145/1012 | chr1 | TogoVar | ||
AXDND1_chr1_179360971_179559735 | 179429595 | T | C | synonymous_variant | LOW | HG01106.hp2 HG01433.hp2 HG01496.hp1 others(10): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0298a0004c0005t0001g0299a0004c0005t0001g0300others(10): Show | 13 | 356 | 0.0365 | 0 | c.130 others(4): Show |
p.His others(6): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 13/26 | 1444/3391 | 1308/3039 | 436/1012 | chr1 | TogoVar | ||
AXDND1_chr1_179360971_179559735 | 179432288 | T | C | synonymous_variant | LOW | HG02109.hp1 HG02630.hp2 HG03195.hp1 |
a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0274a0001c0015t0001g0275a0001c0015t0001g0284 | 3 | 356 | 0.0084 | 0 | c.150 others(4): Show |
p.Pro others(6): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 15/26 | 1645/3391 | 1509/3039 | 503/1012 | chr1 | TogoVar |