| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACOT9_chrX_23696055_23748276 | 23705573 | TC | T | frameshift_variant | HIGH | NA18959.hp1 | a0006 | a0006c0008 | a0006c0008t0019 | a0006c0008t0019g0113 | 1 | 309 | 0.0032 | -1 | c.954 others(4): Show |
p.Ile others(5): Show |
ACOT9 | ENSG00000123130.17 | transcript | ENST00000379303.10 | protein_coding | 13/16 | 1086/4318 | 954/1347 | 318/448 | chrX | TogoVar | ||
| ACOT9_chrX_23696055_23748276 | 23705769 | T | TC | frameshift_variant others(1): Show |
HIGH | NA19083.hp1 | a0005 | a0005c0007 | a0005c0007t0055 | a0005c0007t0055g0271 | 1 | 309 | 0.0032 | 1 | c.931 others(8): Show |
p.Gln others(5): Show |
ACOT9 | ENSG00000123130.17 | transcript | ENST00000379303.10 | protein_coding | 12/16 | 1063/4318 | 931/1347 | 311/448 | chrX | TogoVar | ||
| ACOT9_chrX_23696055_23748276 | 23706683 | TG | T | frameshift_variant | HIGH | NA18968.hp2 | a0004 | a0004c0006 | a0004c0006t0047 | a0004c0006t0047g0196 | 1 | 309 | 0.0032 | -1 | c.786 others(4): Show |
p.Ser others(5): Show |
ACOT9 | ENSG00000123130.17 | transcript | ENST00000379303.10 | protein_coding | 11/16 | 918/4318 | 786/1347 | 262/448 | chrX | TogoVar | ||
| ACOT9_chrX_23696055_23748276 | 23706721 | AT | A | frameshift_variant | HIGH | NA18959.hp1 | a0006 | a0006c0008 | a0006c0008t0019 | a0006c0008t0019g0113 | 1 | 309 | 0.0032 | -1 | c.748 others(4): Show |
p.Ile others(5): Show |
ACOT9 | ENSG00000123130.17 | transcript | ENST00000379303.10 | protein_coding | 11/16 | 880/4318 | 748/1347 | 250/448 | chrX | TogoVar | ||
| ACOT9_chrX_23696055_23748276 | 23733199 | TC | T | frameshift_variant | HIGH | NA18981.hp1 | a0007 | a0007c0005 | a0007c0005t0002 | a0007c0005t0002g0236 | 1 | 309 | 0.0032 | -1 | c.163 others(4): Show |
p.Glu others(4): Show |
ACOT9 | ENSG00000123130.17 | transcript | ENST00000379303.10 | protein_coding | 4/16 | 295/4318 | 163/1347 | 55/448 | chrX | TogoVar | ||
| ACOX2_chr3_58500136_58542190 | 58531789 | G | GCTTCTTA others(4): Show |
frameshift_variant | HIGH | HG03209.hp1 | a0005 | a0005c0019 | a0005c0019t0002 | a0005c0019t0002g0266 | 1 | 364 | 0.0028 | 11 | c.606 others(18): Show |
p.Leu others(5): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 6/15 | 769/2297 | 606/2046 | 202/681 | chr3 | TogoVar | ||
| ACSL6_chr5_131944973_132016658 | 131990123 | AAGGCTGC others(16): Show |
A | frameshift_variant | HIGH | NA18974.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0207 | 1 | 326 | 0.0031 | -23 | c.404 others(30): Show |
p.Gly others(5): Show |
ACSL6 | ENSG00000164398.15 | transcript | ENST00000651883.2 | protein_coding | 4/21 | 531/6535 | 404/2169 | 135/722 | chr5 | TogoVar | ||
| ACTRT1_chrX_128045962_128057403 | 128051584 | TTGAG | T | frameshift_variant | HIGH | HG03130.hp1 | a0009 | a0009c0006 | a0009c0006t0001 | a0009c0006t0001g0000 | 1 | 285 | 0.0035 | -4 | c.619 others(11): Show |
p.Leu others(5): Show |
ACTRT1 | ENSG00000123165.9 | transcript | ENST00000371124.5 | protein_coding | 1/1 | 819/1442 | 619/1131 | 207/376 | chrX | TogoVar | ||
| ACTRT3_chr3_169761921_169774561 | 169767752 | CAAGGTTC others(22): Show |
C | frameshift_variant | HIGH | NA19012.hp2 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0040 | 1 | 418 | 0.0024 | -29 | c.770 others(36): Show |
p.Ala others(5): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 2/2 | 839/1671 | 770/1119 | 257/372 | chr3 | TogoVar | ||
| ACY3_chr11_67637555_67655730 | 67644840 | C | CTTCCATC others(27): Show |
frameshift_variant others(1): Show |
HIGH | HG02083.hp1 | a0004 | a0004c0010 | a0004c0010t0012 | a0004c0010t0012g0080 | 1 | 396 | 0.0025 | 34 | c.635 others(43): Show |
p.Ala others(5): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 7/8 | 905/1371 | 663/960 | 221/319 | chr11 | TogoVar | ||
| ADA2_chr22_17173790_17224435 | 17188382 | CTTGGCGG others(246): Show |
C | frameshift_variant others(3): Show |
HIGH | HG02486.hp1 | a0005 | a0005c0016 | a0005c0016t0045 | a0005c0016t0045g0341 | 1 | 408 | 0.0025 | -253 | c.973 others(12): Show |
p.Val others(5): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 7/10 | 1163/4355 | 973/1536 | 325/511 | chr22 | TogoVar | ||
| ADAD2_chr16_84186157_84202166 | 84196137 | CCACGACC others(25): Show |
C | frameshift_variant | HIGH | NA18998.hp1 | a0015 | a0015c0029 | a0015c0029t0001 | a0015c0029t0001g0001 | 1 | 470 | 0.0021 | -32 | c.129 others(41): Show |
p.Asp others(5): Show |
ADAD2 | ENSG00000140955.11 | transcript | ENST00000315906.10 | protein_coding | 8/10 | 1371/2018 | 1297/1752 | 433/583 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| ADAM20_chr14_70517358_70540004 | 70522703 | T | TAATCCTT others(31): Show |
frameshift_variant | HIGH | NA18967.hp2 | a0006 | a0006c0008 | a0006c0008t0003 | a0006c0008t0003g0099 | 1 | 400 | 0.0025 | 38 | c.201 others(47): Show |
p.Asn others(5): Show |
ADAM20 | ENSG00000134007.5 | transcript | ENST00000256389.5 | protein_coding | 2/2 | 2438/2784 | 2054/2181 | 685/726 | chr14 | TogoVar | ||
| ADAM33_chr20_3662975_3687010 | 3668985 | ATCTGGAC others(1): Show |
A | frameshift_variant | HIGH | HG00408.hp1 HG00597.hp1 HG00639.hp2 others(43): Show |
a0000 | a0000c0003a0000c0009a0000c0010others(9): Show | a0000c0003t0007a0000c0003t0008a0000c0003t0032others(14): Show | a0000c0003t0007g0058a0000c0003t0007g0095a0000c0003t0007g0096others(36): Show | 46 | 462 | 0.0996 | -8 | c.241 others(17): Show |
p.Gln others(5): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 22/22 | 2425/3436 | 2412/2442 | 804/813 | chr20 | TogoVar | ||
| ADAMTSL4_chr1_150544408_150565933 | 150559084 | A | ACCCCCAC others(7): Show |
frameshift_variant | HIGH | NA18954.hp2 | a0021 | a0021c0035 | a0021c0035t0001 | a0021c0035t0001g0003 | 1 | 440 | 0.0023 | 14 | c.268 others(23): Show |
p.Ser others(5): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 16/19 | 2933/4212 | 2683/3225 | 895/1074 | chr1 | TogoVar | ||
| ADCK5_chr8_144369047_144398242 | 144391183 | TCCAGGAG others(4): Show |
T | frameshift_variant | HIGH | HG01516.hp2 | a0008 | a0008c0011 | a0008c0011t0002 | a0008c0011t0002g0085 | 1 | 346 | 0.0029 | -11 | c.594 others(18): Show |
p.Phe others(5): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 6/15 | 643/1960 | 594/1743 | 198/580 | chr8 | TogoVar | ||
| ADCY2_chr5_7391138_7835081 | 7757568 | G | GATGGCCG others(25): Show |
frameshift_variant others(1): Show |
HIGH | HG02451.hp2 | a0006 | a0006c0023 | a0006c0023t0001 | a0006c0023t0001g0054 | 1 | 140 | 0.0071 | 32 | c.209 others(41): Show |
p.Met others(5): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 16/25 | 2251/6645 | 2092/3276 | 698/1091 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
| ADGRA2_chr8_37791883_37849896 | 37841784 | C | CG | frameshift_variant | HIGH | HG00408.hp2 HG00673.hp1 HG01192.hp1 others(10): Show |
a0004a0008a0015others(1): Show | a0004c0011a0004c0015a0008c0019others(4): Show | a0004c0011t0001a0004c0015t0001a0008c0019t0001others(4): Show | a0004c0011t0001g0041a0004c0011t0001g0073a0004c0011t0001g0306others(10): Show | 13 | 370 | 0.0351 | 1 | c.345 others(5): Show |
p.Ala others(6): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 19/19 | 3838/6944 | 3452/4017 | 1151/1338 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |
| ADGRB1_chr8_142444649_142550007 | 142475496 | GTGGGGCG others(6): Show |
G | frameshift_variant | HIGH | HG02735.hp1 | a0006 | a0006c0022 | a0006c0022t0002 | a0006c0022t0002g0270 | 1 | 310 | 0.0032 | -13 | c.808 others(20): Show |
p.Trp others(5): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 3/31 | 1483/6020 | 808/4755 | 270/1584 | chr8 | TogoVar | ||
| ADGRG4_chrX_136295963_136421890 | 136373003 | A | AC | frameshift_variant | HIGH | NA19067.hp1 | a0029 | a0029c0036 | a0029c0036t0001 | a0029c0036t0001g0184 | 1 | 229 | 0.0044 | 1 | c.771 others(5): Show |
p.His others(6): Show |
ADGRG4 | ENSG00000156920.11 | transcript | ENST00000394143.6 | protein_coding | 15/26 | 8009/9933 | 7718/9243 | 2573/3080 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ADGRG4_chrX_136295963_136421890 | 136395415 | A | AG | frameshift_variant | HIGH | NA19006.hp1 | a0019 | a0019c0026 | a0019c0026t0001 | a0019c0026t0001g0117 | 1 | 229 | 0.0044 | 1 | c.810 others(5): Show |
p.Cys others(6): Show |
ADGRG4 | ENSG00000156920.11 | transcript | ENST00000394143.6 | protein_coding | 19/26 | 8400/9933 | 8109/9243 | 2703/3080 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ADGRG4_chrX_136295963_136421890 | 136395484 | A | AG | frameshift_variant | HIGH | NA19006.hp1 | a0019 | a0019c0026 | a0019c0026t0001 | a0019c0026t0001g0117 | 1 | 229 | 0.0044 | 1 | c.817 others(5): Show |
p.Val others(6): Show |
ADGRG4 | ENSG00000156920.11 | transcript | ENST00000394143.6 | protein_coding | 19/26 | 8468/9933 | 8177/9243 | 2726/3080 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ADGRL1_chr19_14142743_14211169 | 14151435 | AGCTCTGA others(24): Show |
A | frameshift_variant | HIGH | NA18955.hp2 | a0000 | a0000c0013 | a0000c0013t0021 | a0000c0013t0021g0174 | 1 | 222 | 0.0045 | -31 | c.381 others(40): Show |
p.Ala others(6): Show |
ADGRL1 | ENSG00000072071.17 | transcript | ENST00000361434.8 | protein_coding | 23/23 | 4127/7820 | 3817/4410 | 1273/1469 | chr19 | TogoVar | ||
| ADM2_chr22_50476543_50491437 | 50482729 | CCCCCGAA others(10): Show |
C | frameshift_variant | HIGH | NA18941.hp1 | a0000 | a0000c0008 | a0000c0008t0001 | a0000c0008t0001g0001 | 1 | 446 | 0.0022 | -17 | c.278 others(24): Show |
p.Arg others(4): Show |
ADM2 | ENSG00000128165.9 | transcript | ENST00000395737.2 | protein_coding | 3/3 | 510/4213 | 278/447 | 93/148 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |
| ADNP2_chr18_80104262_80145346 | 80136651 | CTGTTGGG others(28): Show |
C | frameshift_variant | HIGH | HG01169.hp1 | a0003 | a0003c0012 | a0003c0012t0002 | a0003c0012t0002g0154 | 1 | 388 | 0.0026 | -35 | c.124 others(44): Show |
p.Val others(5): Show |
ADNP2 | ENSG00000101544.9 | transcript | ENST00000262198.9 | protein_coding | 4/4 | 1464/5157 | 1240/3396 | 414/1131 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |
| ADORA2B_chr17_15940130_15980746 | 15975097 | G | GCTGTTAA others(70): Show |
frameshift_variant others(1): Show |
HIGH | NA18998.hp1 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0152 | 1 | 346 | 0.0029 | 77 | c.759 others(84): Show |
p.Ser others(5): Show |
ADORA2B | ENSG00000170425.4 | transcript | ENST00000304222.3 | protein_coding | 2/2 | 955/1522 | 836/999 | 279/332 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
| ADRA2B_chr2_96107876_96121571 | 96115782 | TTGGAGTT others(4): Show |
T | frameshift_variant | HIGH | NA18999.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0000 | 1 | 390 | 0.0026 | -11 | c.357 others(18): Show |
p.Tyr others(5): Show |
ADRA2B | ENSG00000274286.2 | transcript | ENST00000620793.2 | protein_coding | 1/1 | 789/3696 | 357/1353 | 119/450 | chr2 | TogoVar | ||
| AEBP1_chr7_44099345_44119560 | 44112970 | TCTGTATC others(14): Show |
T | frameshift_variant others(3): Show |
HIGH | NA19082.hp2 | a0014 | a0014c0016 | a0014c0016t0001 | a0014c0016t0001g0043 | 1 | 426 | 0.0024 | -21 | c.257 others(33): Show |
p.Thr others(5): Show |
AEBP1 | ENSG00000106624.11 | transcript | ENST00000223357.8 | protein_coding | 19/21 | 2570/3477 | 857/1158 | chr7 | TogoVar | |||
| AEBP1_chr7_44099345_44119560 | 44113703 | C | CGGGGGGG others(9): Show |
frameshift_variant | HIGH | NA19082.hp2 | a0014 | a0014c0016 | a0014c0016t0001 | a0014c0016t0001g0043 | 1 | 426 | 0.0024 | 16 | c.292 others(25): Show |
p.Ala others(5): Show |
AEBP1 | ENSG00000106624.11 | transcript | ENST00000223357.8 | protein_coding | 21/21 | 3245/4097 | 2924/3477 | 975/1158 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| AFDN_chr6_167821911_167977023 | 167951476 | A | AC | frameshift_variant | HIGH | HG00642.hp2 HG01109.hp2 HG02622.hp2 others(6): Show |
a0002 | a0002c0013a0002c0014a0002c0017others(4): Show | a0002c0013t0001a0002c0013t0002a0002c0014t0001others(5): Show | a0002c0013t0001g0034a0002c0013t0002g0267a0002c0014t0001g0020others(6): Show | 9 | 326 | 0.0276 | 1 | c.412 others(5): Show |
p.Pro others(6): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 30/34 | 4350/7806 | 4128/5496 | 1376/1831 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| AFDN_chr6_167821911_167977023 | 167969856 | CACAAGGT others(39): Show |
C | frameshift_variant | HIGH | NA19074.hp1 | a0011 | a0011c0018 | a0011c0018t0002 | a0011c0018t0002g0239 | 1 | 326 | 0.0031 | -46 | c.542 others(55): Show |
p.Gly others(6): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 34/34 | 5643/7806 | 5421/5496 | 1807/1831 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| AFF2_chrX_148495617_149005663 | 148662755 | T | TC | frameshift_variant | HIGH | NA18974.hp1 | a0003 | a0003c0008 | a0003c0008t0045 | a0003c0008t0045g0010 | 1 | 169 | 0.0059 | 1 | c.103 others(5): Show |
p.Gln others(5): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 3/21 | 1512/13748 | 1031/3936 | 344/1311 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| AGAP2_chr12_57720197_57743742 | 57737529 | C | CG | frameshift_variant | HIGH | HG00423.hp2 HG01109.hp1 HG01175.hp2 others(8): Show |
a0002 | a0002c0005a0002c0007a0002c0009 | a0002c0005t0001a0002c0005t0002a0002c0005t0013others(2): Show | a0002c0005t0001g0027a0002c0005t0001g0057a0002c0005t0001g0058others(5): Show | 11 | 382 | 0.0288 | 1 | c.717 others(4): Show |
p.Ala others(5): Show |
AGAP2 | ENSG00000135439.12 | transcript | ENST00000547588.6 | protein_coding | 1/19 | 1213/5430 | 717/3579 | 239/1192 | chr12 | TogoVar | ||
| AGAP3_chr7_151081475_151149434 | 151086812 | G | GT | frameshift_variant | HIGH | HG01884.hp2 HG01891.hp1 HG02280.hp1 others(6): Show |
a0001 | a0001c0002a0001c0020 | a0001c0002t0002a0001c0020t0002 | a0001c0002t0002g0310a0001c0002t0002g0311a0001c0002t0002g0312others(6): Show | 9 | 354 | 0.0254 | 1 | c.71_ others(6): Show |
p.Ala others(4): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | 339/3494 | 72/2736 | 24/911 | chr7 | TogoVar | ||
| AGAP3_chr7_151081475_151149434 | 151086813 | C | CG | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(341): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(332): Show | 344 | 354 | 0.9718 | 1 | c.73d others(3): Show |
p.Ala others(4): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | 341/3494 | 74/2736 | 25/911 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| AGAP3_chr7_151081475_151149434 | 151086821 | C | CG | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0.9972 | 1 | c.81d others(3): Show |
p.Gln others(4): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | 349/3494 | 82/2736 | 28/911 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| AGAP3_chr7_151081475_151149434 | 151086831 | C | CG | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0.9972 | 1 | c.91d others(3): Show |
p.Val others(4): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | 359/3494 | 92/2736 | 31/911 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| AGAP3_chr7_151081475_151149434 | 151117643 | C | CTGGGCGT others(6): Show |
frameshift_variant | HIGH | HG03831.hp2 | a0003 | a0003c0019 | a0003c0019t0004 | a0003c0019t0004g0292 | 1 | 354 | 0.0028 | 13 | c.572 others(20): Show |
p.Trp others(5): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 5/18 | 840/3494 | 573/2736 | 191/911 | chr7 | TogoVar | ||
| AGAP3_chr7_151081475_151149434 | 151117645 | T | TTGTTGGT others(3): Show |
frameshift_variant | HIGH | HG03831.hp2 | a0003 | a0003c0019 | a0003c0019t0004 | a0003c0019t0004g0292 | 1 | 354 | 0.0028 | 10 | c.574 others(17): Show |
p.Trp others(5): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 5/18 | 842/3494 | 575/2736 | 192/911 | chr7 | TogoVar | ||
| AGAP6_chr10_49983406_50015499 | 49988768 | A | AC | frameshift_variant | HIGH | HG00140.hp1 HG00609.hp2 HG00741.hp1 others(36): Show |
a0003 | a0003c0003a0003c0014a0003c0031 | a0003c0003t0003a0003c0003t0009a0003c0003t0010others(3): Show | a0003c0003t0003g0011a0003c0003t0003g0017a0003c0003t0003g0024others(25): Show | 39 | 406 | 0.0961 | 1 | c.55d others(3): Show |
p.Gln others(4): Show |
AGAP6 | ENSG00000204149.16 | transcript | ENST00000412531.7 | protein_coding | 1/8 | 366/2684 | 56/2061 | 19/686 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
| AGAP6_chr10_49983406_50015499 | 49988921 | AC | A | frameshift_variant | HIGH | HG00140.hp2 HG00544.hp1 HG00733.hp1 others(17): Show |
a0004 | a0004c0004a0004c0026a0004c0027 | a0004c0004t0004a0004c0026t0004a0004c0027t0011 | a0004c0004t0004g0004a0004c0004t0004g0042a0004c0004t0004g0043others(9): Show | 20 | 406 | 0.0493 | -1 | c.208 others(4): Show |
p.Arg others(4): Show |
AGAP6 | ENSG00000204149.16 | transcript | ENST00000412531.7 | protein_coding | 1/8 | 518/2684 | 208/2061 | 70/686 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
| AGAP6_chr10_49983406_50015499 | 50008914 | CAA | C | frameshift_variant | HIGH | HG00140.hp1 HG00609.hp2 HG00741.hp1 others(36): Show |
a0003 | a0003c0003a0003c0014a0003c0031 | a0003c0003t0003a0003c0003t0009a0003c0003t0010others(3): Show | a0003c0003t0003g0011a0003c0003t0003g0017a0003c0003t0003g0024others(25): Show | 39 | 406 | 0.0961 | -2 | c.791 others(9): Show |
p.Lys others(5): Show |
AGAP6 | ENSG00000204149.16 | transcript | ENST00000412531.7 | protein_coding | 8/8 | 1101/2684 | 791/2061 | 264/686 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
| AGAP6_chr10_49983406_50015499 | 50009462 | TGCAGTCA others(7): Show |
T | frameshift_variant | HIGH | NA18952.hp1 NA18962.hp1 NA19004.hp2 |
a0009 | a0009c0009 | a0009c0009t0002 | a0009c0009t0002g0001 | 3 | 406 | 0.0074 | -14 | c.134 others(23): Show |
p.Ser others(5): Show |
AGAP6 | ENSG00000204149.16 | transcript | ENST00000412531.7 | protein_coding | 8/8 | 1653/2684 | 1343/2061 | 448/686 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
| AGAP9_chr10_47496854_47528638 | 47502198 | G | GTACCAGA | frameshift_variant | HIGH | HG00735.hp2 HG01361.hp2 HG01884.hp1 others(11): Show |
a0000a0002 | a0000c0013a0000c0014a0000c0026others(2): Show | a0000c0013t0007a0000c0014t0001a0000c0026t0002others(2): Show | a0000c0013t0007g0142a0000c0014t0001g0143a0000c0026t0002g0167others(9): Show | 14 | 206 | 0.0680 | 7 | c.193 others(16): Show |
p.Thr others(5): Show |
AGAP9 | ENSG00000204172.12 | transcript | ENST00000452145.6 | protein_coding | 8/8 | 2042/2387 | 1930/1977 | 644/658 | chr10 | TogoVar | ||
| AGAP9_chr10_47496854_47528638 | 47502280 | CG | C | frameshift_variant | HIGH | HG00735.hp2 HG01361.hp2 HG02698.hp1 others(8): Show |
a0002 | a0002c0002a0002c0027 | a0002c0002t0002a0002c0027t0002 | a0002c0002t0002g0004a0002c0002t0002g0169a0002c0002t0002g0170others(6): Show | 11 | 206 | 0.0534 | -1 | c.184 others(5): Show |
p.Asn others(5): Show |
AGAP9 | ENSG00000204172.12 | transcript | ENST00000452145.6 | protein_coding | 8/8 | 1960/2387 | 1848/1977 | 616/658 | chr10 | TogoVar | ||
| AGAP9_chr10_47496854_47528638 | 47523471 | T | TG | frameshift_variant | HIGH | HG00735.hp2 HG01361.hp2 HG02698.hp1 others(9): Show |
a0002 | a0002c0002a0002c0027a0002c0028 | a0002c0002t0002a0002c0027t0002a0002c0028t0003 | a0002c0002t0002g0004a0002c0002t0002g0169a0002c0002t0002g0170others(7): Show | 12 | 206 | 0.0583 | 1 | c.55d others(3): Show |
p.Gln others(4): Show |
AGAP9 | ENSG00000204172.12 | transcript | ENST00000452145.6 | protein_coding | 1/8 | 167/2387 | 55/1977 | 19/658 | chr10 | TogoVar | ||
| AGTR2_chrX_116165744_116179974 | 116172296 | AC | A | frameshift_variant | HIGH | NA19076.hp1 | a0005 | a0005c0006 | a0005c0006t0013 | a0005c0006t0013g0010 | 1 | 332 | 0.0030 | -1 | c.19d others(3): Show |
p.Ala others(3): Show |
AGTR2 | ENSG00000180772.8 | transcript | ENST00000371906.5 | protein_coding | 3/3 | 187/2862 | 19/1092 | 7/363 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| AGTR2_chrX_116165744_116179974 | 116172323 | AC | A | frameshift_variant | HIGH | NA18978.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0012 | 1 | 332 | 0.0030 | -1 | c.45d others(3): Show |
p.Ser others(4): Show |
AGTR2 | ENSG00000180772.8 | transcript | ENST00000371906.5 | protein_coding | 3/3 | 213/2862 | 45/1092 | 15/363 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| AGTR2_chrX_116165744_116179974 | 116172512 | GT | G | frameshift_variant | HIGH | NA19076.hp1 | a0005 | a0005c0006 | a0005c0006t0013 | a0005c0006t0013g0010 | 1 | 332 | 0.0030 | -1 | c.235 others(4): Show |
p.Ser others(4): Show |
AGTR2 | ENSG00000180772.8 | transcript | ENST00000371906.5 | protein_coding | 3/3 | 403/2862 | 235/1092 | 79/363 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| AGTR2_chrX_116165744_116179974 | 116172529 | CT | C | frameshift_variant | HIGH | NA19076.hp1 | a0005 | a0005c0006 | a0005c0006t0013 | a0005c0006t0013g0010 | 1 | 332 | 0.0030 | -1 | c.251 others(4): Show |
p.Phe others(4): Show |
AGTR2 | ENSG00000180772.8 | transcript | ENST00000371906.5 | protein_coding | 3/3 | 419/2862 | 251/1092 | 84/363 | INFO_REALIGN_3_PRIME | chrX | TogoVar |