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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPPK1_chr8_143852324_143883467 | 143866306 | C | CCCGGTGT others(6389): Show |
disruptive_inframe_insertion | MODERATE | HG03579.hp2 | a0107 | a0107c0166 | a0107c0166t0009 | a0107c0166t0009g0226 | 1 | 424 | 0.0024 | 6396 | c.694 others(6405): Show |
p.Gly others(6411): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 7022/16005 | 6947/15267 | 2316/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143866306 | C | CCCGGTGT others(6389): Show |
disruptive_inframe_insertion | MODERATE | HG02559.hp2 | a0109 | a0109c0163 | a0109c0163t0009 | a0109c0163t0009g0223 | 1 | 424 | 0.0024 | 6396 | c.694 others(6405): Show |
p.Gly others(6411): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 7022/16005 | 6947/15267 | 2316/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143866306 | C | CCCGGTGT others(6389): Show |
disruptive_inframe_insertion | MODERATE | HG03486.hp2 | a0108 | a0108c0165 | a0108c0165t0009 | a0108c0165t0009g0225 | 1 | 424 | 0.0024 | 6396 | c.694 others(6405): Show |
p.Gly others(6411): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 7022/16005 | 6947/15267 | 2316/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143866306 | C | CCCGGTGT others(6389): Show |
disruptive_inframe_insertion | MODERATE | HG01109.hp2 HG02965.hp2 HG03195.hp2 |
a0072a0098a0106 | a0072c0160a0098c0055a0106c0164 | a0072c0160t0009a0098c0055t0009a0106c0164t0009 | a0072c0160t0009g0036a0098c0055t0009g0211a0106c0164t0009g0224 | 3 | 424 | 0.0071 | 6396 | c.694 others(6405): Show |
p.Gly others(6411): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 7022/16005 | 6947/15267 | 2316/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143866306 | C | CCCGGTGT others(7979): Show |
disruptive_inframe_insertion | MODERATE | HG01175.hp2 | a0116 | a0116c0171 | a0116c0171t0009 | a0116c0171t0009g0200 | 1 | 424 | 0.0024 | 7986 | c.694 others(7995): Show |
p.Gly others(8001): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 7022/16005 | 6947/15267 | 2316/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143866372 | G | GCCGCCCA others(3185): Show |
disruptive_inframe_insertion | MODERATE | HG04184.hp2 | a0076 | a0076c0198 | a0076c0198t0003 | a0076c0198t0003g0228 | 1 | 424 | 0.0024 | 3192 | c.688 others(3201): Show |
p.Gly others(3207): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 6956/16005 | 6881/15267 | 2294/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143866372 | G | GCCGCCCA others(1583): Show |
disruptive_inframe_insertion | MODERATE | NA21309.hp2 | a0080 | a0080c0195 | a0080c0195t0003 | a0080c0195t0003g0370 | 1 | 424 | 0.0024 | 1590 | c.688 others(1599): Show |
p.Gly others(1605): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 6956/16005 | 6881/15267 | 2294/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143866372 | G | GCCGCCCA others(1583): Show |
disruptive_inframe_insertion | MODERATE | homoSapiens_chm13v2.hp1 | a0081 | a0081c0194 | a0081c0194t0003 | a0081c0194t0003g0100 | 1 | 424 | 0.0024 | 1590 | c.688 others(1599): Show |
p.Gly others(1605): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 6956/16005 | 6881/15267 | 2294/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143866372 | G | GCCGCCCA others(3176): Show |
disruptive_inframe_insertion | MODERATE | HG03942.hp1 | a0267 | a0267c0137 | a0267c0137t0003 | a0267c0137t0003g0304 | 1 | 424 | 0.0024 | 3183 | c.688 others(3192): Show |
p.Gly others(3198): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 6956/16005 | 6881/15267 | 2294/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143866372 | G | GCCGCCCA others(3185): Show |
disruptive_inframe_insertion | MODERATE | HG01496.hp1 | a0166 | a0166c0212 | a0166c0212t0003 | a0166c0212t0003g0109 | 1 | 424 | 0.0024 | 3192 | c.688 others(3201): Show |
p.Gly others(3207): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 6956/16005 | 6881/15267 | 2294/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143866372 | G | GCCGCCCA others(3185): Show |
disruptive_inframe_insertion | MODERATE | HG00323.hp1 HG00733.hp1 HG00738.hp2 others(5): Show |
a0003a0082 | a0003c0008a0003c0030a0003c0031others(1): Show | a0003c0008t0003a0003c0030t0003a0003c0031t0003others(2): Show | a0003c0008t0003g0027a0003c0008t0003g0360a0003c0030t0003g0010others(3): Show | 8 | 424 | 0.0189 | 3192 | c.688 others(3201): Show |
p.Gly others(3207): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 6956/16005 | 6881/15267 | 2294/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143866372 | G | GCCGCCCA others(3185): Show |
disruptive_inframe_insertion | MODERATE | HG02717.hp2 NA18522.hp2 |
a0122a0133 | a0122c0334a0133c0310 | a0122c0334t0003a0133c0310t0003 | a0122c0334t0003g0254a0133c0310t0003g0075 | 2 | 424 | 0.0047 | 3192 | c.688 others(3201): Show |
p.Gly others(3207): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 6956/16005 | 6881/15267 | 2294/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143871574 | A | AAAGGTGA others(5): Show |
disruptive_inframe_insertion | MODERATE | HG02109.hp1 HG02965.hp2 HG03041.hp2 others(1): Show |
a0025a0072a0073 | a0025c0161a0025c0162a0072c0160others(1): Show | a0025c0161t0001a0025c0162t0001a0072c0160t0009others(1): Show | a0025c0161t0001g0196a0025c0162t0001g0033a0072c0160t0009g0036others(1): Show | 4 | 424 | 0.0094 | 12 | c.166 others(21): Show |
p.Phe others(25): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 1754/16005 | 1679/15267 | 560/5088 | chr8 | TogoVar | ||
ERBB2_chr17_39695064_39733658 | 39727487 | G | GTACCCCT others(26): Show |
disruptive_inframe_insertion | MODERATE | NA19089.hp1 | a0011 | a0011c0016 | a0011c0016t0005 | a0011c0016t0005g0069 | 1 | 318 | 0.0031 | 33 | c.337 others(42): Show |
p.Asp others(48): Show |
ERBB2 | ENSG00000141736.14 | transcript | ENST00000269571.10 | protein_coding | 26/27 | 3550/4557 | 3375/3768 | 1125/1255 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
ERICH2_chr2_170765378_170803977 | 170770974 | T | TGCCCCC | disruptive_inframe_insertion | MODERATE | HG01074.hp1 HG02647.hp1 HG02809.hp1 others(6): Show |
a0005a0006 | a0005c0006a0006c0008 | a0005c0006t0002a0006c0008t0001 | a0005c0006t0002g0045a0005c0006t0002g0149a0005c0006t0002g0150others(4): Show | 9 | 390 | 0.0231 | 6 | c.309 others(13): Show |
p.Pro others(13): Show |
ERICH2 | ENSG00000204334.8 | transcript | ENST00000697325.1 | protein_coding | 1/10 | 619/1698 | 315/1311 | 105/436 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
ERICH2_chr2_170765378_170803977 | 170770974 | T | TGCCCCCG others(5): Show |
disruptive_inframe_insertion | MODERATE | HG03831.hp2 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0001 | 1 | 390 | 0.0026 | 12 | c.303 others(19): Show |
p.Pro others(13): Show |
ERICH2 | ENSG00000204334.8 | transcript | ENST00000697325.1 | protein_coding | 1/10 | 619/1698 | 315/1311 | 105/436 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
ERICH6_chr3_150654885_150708920 | 150703740 | C | CTCCTCCT others(14): Show |
disruptive_inframe_insertion | MODERATE | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(124): Show |
a0002a0004a0012others(7): Show | a0002c0001a0002c0028a0004c0005others(8): Show | a0002c0001t0001a0002c0001t0002a0002c0028t0001others(10): Show | a0002c0001t0001g0001a0002c0001t0001g0002a0002c0001t0001g0003others(117): Show | 127 | 348 | 0.3649 | 21 | c.138 others(28): Show |
p.Glu others(32): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 1/14 | 180/2021 | 158/1992 | 53/663 | chr3 | TogoVar | ||
ERICH6_chr3_150654885_150708920 | 150703740 | C | CTCCTCCT others(35): Show |
disruptive_inframe_insertion | MODERATE | HG01167.hp1 HG01169.hp2 HG01175.hp1 others(3): Show |
a0007 | a0007c0010a0007c0021 | a0007c0010t0001a0007c0021t0001 | a0007c0010t0001g0016a0007c0010t0001g0017a0007c0010t0001g0018others(3): Show | 6 | 348 | 0.0172 | 42 | c.117 others(49): Show |
p.Glu others(53): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 1/14 | 180/2021 | 158/1992 | 53/663 | chr3 | TogoVar | ||
ERICH6_chr3_150654885_150708920 | 150703740 | C | CTCCTCCT others(20): Show |
disruptive_inframe_insertion | MODERATE | HG02809.hp1 | a0018 | a0018c0022 | a0018c0022t0001 | a0018c0022t0001g0022 | 1 | 348 | 0.0029 | 27 | c.158 others(34): Show |
p.Glu others(38): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 1/14 | 180/2021 | 158/1992 | 53/663 | chr3 | TogoVar | ||
ERICH6_chr3_150654885_150708920 | 150703803 | T | TTCCTCCT others(17): Show |
disruptive_inframe_insertion | MODERATE | NA18973.hp1 | a0017 | a0017c0038 | a0017c0038t0002 | a0017c0038t0002g0309 | 1 | 348 | 0.0029 | 24 | c.95_ others(29): Show |
p.Glu others(35): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 1/14 | 117/2021 | 95/1992 | 32/663 | chr3 | TogoVar | ||
ERICH6_chr3_150654885_150708920 | 150703806 | C | CTCCTCCT others(11): Show |
disruptive_inframe_insertion | MODERATE | NA20129.hp1 | a0032 | a0032c0020 | a0032c0020t0001 | a0032c0020t0001g0015 | 1 | 348 | 0.0029 | 18 | c.92_ others(23): Show |
p.Glu others(29): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 1/14 | 114/2021 | 92/1992 | 31/663 | chr3 | TogoVar | ||
ESYT3_chr3_138429616_138484925 | 138451869 | G | GCCAGGGC others(173): Show |
stop_gained others(1): Show |
HIGH | HG01884.hp1 HG02451.hp1 HG02486.hp2 others(9): Show |
a0001a0002a0003 | a0001c0004a0001c0005a0002c0002others(1): Show | a0001c0004t0003a0001c0005t0001a0002c0002t0001others(1): Show | a0001c0004t0003g0102a0001c0005t0001g0125a0002c0002t0001g0041others(5): Show | 12 | 338 | 0.0355 | 180 | c.328 others(191): Show |
p.Ile others(193): Show |
ESYT3 | ENSG00000158220.14 | transcript | ENST00000389567.9 | protein_coding | 2/23 | 516/5915 | 333/2661 | 111/886 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
F8A2_chrX_155377095_155388801 | 155382202 | T | TCGAACAA others(5): Show |
disruptive_inframe_insertion | MODERATE | HG00733.hp2 | a0011 | a0011c0013 | a0011c0013t0002 | a0011c0013t0002g0000 | 1 | 267 | 0.0038 | 12 | c.89_ others(18): Show |
p.Leu others(23): Show |
F8A2 | ENSG00000288709.1 | transcript | ENST00000369505.5 | protein_coding | 1/1 | 121/1707 | 101/1116 | 34/371 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
F8A2_chrX_155377095_155388801 | 155382934 | G | GTGC | disruptive_inframe_insertion | MODERATE | NA19076.hp1 | a0010 | a0010c0006 | a0010c0006t0008 | a0010c0006t0008g0000 | 1 | 267 | 0.0038 | 3 | c.831 others(10): Show |
p.Leu others(6): Show |
F8A2 | ENSG00000288709.1 | transcript | ENST00000369505.5 | protein_coding | 1/1 | 854/1707 | 834/1116 | 278/371 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
FADS6_chr17_74872302_74898633 | 74893497 | C | CGGTTCCA others(11): Show |
disruptive_inframe_insertion | MODERATE | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(103): Show |
a0002 | a0002c0002a0002c0008 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(6): Show | a0002c0002t0001g0006a0002c0002t0001g0030a0002c0002t0001g0031others(96): Show | 106 | 440 | 0.2409 | 18 | c.81_ others(23): Show |
p.Pro others(29): Show |
FADS6 | ENSG00000172782.13 | transcript | ENST00000612771.5 | protein_coding | 1/6 | 136/2174 | 98/1107 | 33/368 | chr17 | TogoVar | ||
FADS6_chr17_74872302_74898633 | 74893497 | C | CGGTTCCA others(29): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp2 HG00738.hp2 HG01106.hp2 others(21): Show |
a0004 | a0004c0004a0004c0009 | a0004c0004t0001a0004c0004t0002a0004c0004t0003others(5): Show | a0004c0004t0001g0352a0004c0004t0001g0353a0004c0004t0001g0354others(19): Show | 24 | 440 | 0.0546 | 36 | c.63_ others(41): Show |
p.Pro others(47): Show |
FADS6 | ENSG00000172782.13 | transcript | ENST00000612771.5 | protein_coding | 1/6 | 136/2174 | 98/1107 | 33/368 | chr17 | TogoVar | ||
FADS6_chr17_74872302_74898633 | 74893497 | C | CGGTTCCA others(47): Show |
disruptive_inframe_insertion | MODERATE | HG01891.hp2 HG02922.hp1 HG02970.hp2 others(1): Show |
a0008 | a0008c0010 | a0008c0010t0004 | a0008c0010t0004g0372a0008c0010t0004g0373a0008c0010t0004g0374others(1): Show | 4 | 440 | 0.0091 | 54 | c.45_ others(59): Show |
p.Pro others(65): Show |
FADS6 | ENSG00000172782.13 | transcript | ENST00000612771.5 | protein_coding | 1/6 | 136/2174 | 98/1107 | 33/368 | chr17 | TogoVar | ||
FADS6_chr17_74872302_74898633 | 74893569 | A | AGGTTCCA others(11): Show |
disruptive_inframe_insertion | MODERATE | NA19043.hp1 | a0002 | a0002c0018 | a0002c0018t0001 | a0002c0018t0001g0074 | 1 | 440 | 0.0023 | 18 | c.9_2 others(22): Show |
p.Pro others(28): Show |
FADS6 | ENSG00000172782.13 | transcript | ENST00000612771.5 | protein_coding | 1/6 | 64/2174 | 26/1107 | 9/368 | chr17 | TogoVar | ||
FADS6_chr17_74872302_74898633 | 74893569 | A | AGGTTCCA others(11): Show |
disruptive_inframe_insertion | MODERATE | NA18949.hp2 NA18981.hp1 |
a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0072a0002c0013t0001g0073 | 2 | 440 | 0.0046 | 18 | c.26_ others(23): Show |
p.Pro others(28): Show |
FADS6 | ENSG00000172782.13 | transcript | ENST00000612771.5 | protein_coding | 1/6 | 64/2174 | 26/1107 | 9/368 | chr17 | TogoVar | ||
FAM117B_chr2_202629969_202774757 | 202635418 | A | AGGC | disruptive_inframe_insertion | MODERATE | HG00733.hp1 HG01109.hp2 HG01168.hp1 others(27): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0003a0002c0002t0016a0002c0002t0024others(14): Show | a0002c0002t0003g0301a0002c0002t0003g0302a0002c0002t0003g0303others(27): Show | 30 | 318 | 0.0943 | 3 | c.246 others(10): Show |
p.Gly others(5): Show |
FAM117B | ENSG00000138439.12 | transcript | ENST00000392238.3 | protein_coding | 1/8 | 468/5982 | 249/1770 | 83/589 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
FAM117B_chr2_202629969_202774757 | 202635418 | A | AGGCGGC | disruptive_inframe_insertion | MODERATE | HG02145.hp1 HG02451.hp1 HG02717.hp2 others(6): Show |
a0003 | a0003c0003 | a0003c0003t0006a0003c0003t0010a0003c0003t0030others(2): Show | a0003c0003t0006g0072a0003c0003t0010g0196a0003c0003t0010g0244others(6): Show | 9 | 318 | 0.0283 | 6 | c.243 others(13): Show |
p.Gly others(11): Show |
FAM117B | ENSG00000138439.12 | transcript | ENST00000392238.3 | protein_coding | 1/8 | 468/5982 | 249/1770 | 83/589 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
FAM120C_chrX_54063324_54188254 | 54182869 | G | GGGCGGC | disruptive_inframe_insertion | MODERATE | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0007a0002c0002t0019others(1): Show | a0002c0002t0001g0187a0002c0002t0007g0184a0002c0002t0019g0186others(1): Show | 4 | 190 | 0.0211 | 6 | c.324 others(13): Show |
p.Pro others(13): Show |
FAM120C | ENSG00000184083.12 | transcript | ENST00000375180.7 | protein_coding | 1/16 | 385/8056 | 329/3291 | 110/1096 | chrX | TogoVar | ||
FAM149B1_chr10_73163119_73249504 | 73168308 | T | TGAG | start_lost others(1): Show |
HIGH | HG00735.hp1 HG01243.hp1 HG01891.hp1 others(16): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0003a0001c0001t0006a0001c0001t0015others(2): Show | a0001c0001t0003g0217a0001c0001t0003g0218a0001c0001t0003g0222others(16): Show | 19 | 236 | 0.0805 | 3 | c.-2_ others(7): Show |
FAM149B1 | ENSG00000138286.15 | transcript | ENST00000242505.11 | protein_coding | 1/14 | 223/5455 | 2/1749 | 1/582 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
FAM149B1_chr10_73163119_73249504 | 73168308 | T | TGAGGAGG others(2): Show |
start_lost others(1): Show |
HIGH | HG02896.hp2 HG02897.hp1 NA19085.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0009a0003c0003t0013 | a0001c0001t0009g0220a0001c0001t0009g0221a0003c0003t0013g0186 | 3 | 236 | 0.0127 | 9 | c.-8_ others(13): Show |
FAM149B1 | ENSG00000138286.15 | transcript | ENST00000242505.11 | protein_coding | 1/14 | 223/5455 | 2/1749 | 1/582 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
FAM171B_chr2_186689060_186770959 | 186694302 | A | ACAG | disruptive_inframe_insertion | MODERATE | HG00323.hp1 HG00544.hp1 HG00558.hp2 others(82): Show |
a0001a0003a0008others(1): Show | a0001c0004a0001c0005a0001c0020others(3): Show | a0001c0004t0001a0001c0004t0003a0001c0004t0004others(14): Show | a0001c0004t0001g0001a0001c0004t0001g0016a0001c0004t0001g0017others(72): Show | 85 | 332 | 0.2560 | 3 | c.147 others(10): Show |
p.Gln others(5): Show |
FAM171B | ENSG00000144369.14 | transcript | ENST00000304698.10 | protein_coding | 1/8 | 264/5731 | 150/2481 | 50/826 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
FAM171B_chr2_186689060_186770959 | 186694302 | A | ACAGCAG | disruptive_inframe_insertion | MODERATE | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(65): Show |
a0002 | a0002c0003a0002c0006a0002c0010others(2): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(11): Show | a0002c0003t0001g0002a0002c0003t0001g0003a0002c0003t0001g0004others(56): Show | 68 | 332 | 0.2048 | 6 | c.144 others(13): Show |
p.Gln others(11): Show |
FAM171B | ENSG00000144369.14 | transcript | ENST00000304698.10 | protein_coding | 1/8 | 264/5731 | 150/2481 | 50/826 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
FAM171B_chr2_186689060_186770959 | 186694302 | A | ACAGCAGC others(2): Show |
disruptive_inframe_insertion | MODERATE | HG01243.hp2 HG02717.hp1 HG02922.hp2 others(1): Show |
a0005 | a0005c0011a0005c0024 | a0005c0011t0001a0005c0024t0001 | a0005c0011t0001g0063a0005c0011t0001g0119a0005c0011t0001g0121others(1): Show | 4 | 332 | 0.0121 | 9 | c.141 others(16): Show |
p.Gln others(11): Show |
FAM171B | ENSG00000144369.14 | transcript | ENST00000304698.10 | protein_coding | 1/8 | 264/5731 | 150/2481 | 50/826 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
FAM171B_chr2_186689060_186770959 | 186694320 | G | GCAA | disruptive_inframe_insertion | MODERATE | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(165): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0002a0001c0009others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(31): Show | a0001c0001t0002g0007a0001c0001t0002g0008a0001c0001t0002g0022others(154): Show | 168 | 332 | 0.5060 | 3 | c.162 others(10): Show |
p.Gln others(5): Show |
FAM171B | ENSG00000144369.14 | transcript | ENST00000304698.10 | protein_coding | 1/8 | 279/5731 | 165/2481 | 55/826 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
FAM43A_chr3_194680883_194694037 | 194687682 | G | GCGGCAGA others(8): Show |
disruptive_inframe_insertion | MODERATE | HG02109.hp1 HG03225.hp2 HG03540.hp2 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0009 | a0003c0005t0009g0000 | 4 | 442 | 0.0091 | 15 | c.858 others(22): Show |
p.Pro others(28): Show |
FAM43A | ENSG00000185112.6 | transcript | ENST00000329759.6 | protein_coding | 1/1 | 1817/3155 | 873/1272 | 291/423 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
FAM47C_chrX_37003366_37016664 | 37010258 | T | TCATCTCC others(29): Show |
disruptive_inframe_insertion | MODERATE | HG00558.hp1 HG01168.hp1 HG01169.hp1 others(33): Show |
a0002a0014 | a0002c0002a0002c0009a0014c0020 | a0002c0002t0001a0002c0009t0001a0014c0020t0001 | a0002c0002t0001g0000a0002c0009t0001g0000a0014c0020t0001g0000 | 36 | 308 | 0.1169 | 36 | c.186 others(45): Show |
p.Pro others(49): Show |
FAM47C | ENSG00000198173.5 | transcript | ENST00000358047.5 | protein_coding | 1/1 | 1950/3299 | 1905/3108 | 635/1035 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
FAM83D_chr20_38921417_38958106 | 38926679 | C | CGCG | disruptive_inframe_insertion | MODERATE | HG00738.hp2 HG01192.hp2 HG01361.hp2 others(4): Show |
a0005a0008a0012 | a0005c0007a0008c0010a0012c0021 | a0005c0007t0001a0008c0010t0002a0012c0021t0004 | a0005c0007t0001g0004a0005c0007t0001g0153a0005c0007t0001g0221others(3): Show | 7 | 342 | 0.0205 | 3 | c.255 others(10): Show |
p.Ala others(5): Show |
FAM83D | ENSG00000101447.15 | transcript | ENST00000619850.2 | protein_coding | 1/4 | 284/2370 | 258/1758 | 86/585 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
FAM83D_chr20_38921417_38958106 | 38926679 | C | CGCGGCG | disruptive_inframe_insertion | MODERATE | HG02451.hp2 NA18969.hp1 NA18986.hp2 |
a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0035a0007c0009t0001g0191a0007c0009t0001g0192 | 3 | 342 | 0.0088 | 6 | c.252 others(13): Show |
p.Ala others(11): Show |
FAM83D | ENSG00000101447.15 | transcript | ENST00000619850.2 | protein_coding | 1/4 | 284/2370 | 258/1758 | 86/585 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
FAM90A1_chr12_8216260_8232618 | 8222185 | C | CACG | disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(206): Show |
a0001a0009a0012others(5): Show | a0001c0001a0001c0009a0001c0033others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(40): Show | a0001c0001t0001g0006a0001c0001t0001g0014a0001c0001t0001g0015others(138): Show | 209 | 466 | 0.4485 | 3 | c.103 others(12): Show |
p.Thr others(16): Show |
FAM90A1 | ENSG00000171847.11 | transcript | ENST00000538603.6 | protein_coding | 7/7 | 1590/2516 | 1031/1395 | 344/464 | chr12 | TogoVar | ||
FAM90A1_chr12_8216260_8232618 | 8222185 | C | CACGGTAC others(29444): Show |
stop_gained others(1): Show |
HIGH | HG02559.hp2 | a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0270 | 1 | 466 | 0.0022 | 29451 | c.103 others(29460): Show |
p.Thr others(29464): Show |
FAM90A1 | ENSG00000171847.11 | transcript | ENST00000538603.6 | protein_coding | 7/7 | 1590/2516 | 1031/1395 | 344/464 | chr12 | TogoVar | ||
FAM9B_chrX_9019232_9039127 | 9032131 | T | TGCAGTA | disruptive_inframe_insertion others(1): Show |
MODERATE | NA19075.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0056 | 1 | 258 | 0.0039 | 6 | c.174 others(13): Show |
p.Ala others(17): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 4/9 | 544/2103 | 179/561 | 60/186 | chrX | TogoVar | ||
FBLN2_chr3_13544125_13643404 | 13570394 | T | TCTGGGC | disruptive_inframe_insertion | MODERATE | HG01884.hp1 HG03516.hp2 NA21309.hp2 |
a0012a0030 | a0012c0084a0012c0085a0030c0083 | a0012c0084t0002a0012c0085t0001a0030c0083t0001 | a0012c0084t0002g0303a0012c0085t0001g0302a0030c0083t0001g0304 | 3 | 312 | 0.0096 | 6 | c.44_ others(11): Show |
p.Gly others(11): Show |
FBLN2 | ENSG00000163520.14 | transcript | ENST00000404922.8 | protein_coding | 2/18 | 175/4306 | 50/3696 | 17/1231 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
FBXL17_chr5_107854035_108387098 | 108381011 | A | ACCG | disruptive_inframe_insertion | MODERATE | HG01081.hp2 HG03139.hp1 HG03471.hp2 |
a0005 | a0005c0007 | a0005c0007t0001a0005c0007t0003a0005c0007t0005 | a0005c0007t0001g0079a0005c0007t0003g0080a0005c0007t0005g0078 | 3 | 244 | 0.0123 | 3 | c.678 others(10): Show |
p.Gly others(6): Show |
FBXL17 | ENSG00000145743.18 | transcript | ENST00000542267.7 | protein_coding | 1/9 | 1087/5198 | 680/2106 | 227/701 | chr5 | TogoVar | ||
FBXO2_chr1_11643387_11659429 | 11650722 | C | CGCG | disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(161): Show |
a0001a0005a0007 | a0001c0001a0005c0005a0007c0006 | a0001c0001t0001a0001c0001t0002a0005c0005t0001others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0015others(103): Show | 164 | 428 | 0.3832 | 3 | c.132 others(10): Show |
p.Ala others(5): Show |
FBXO2 | ENSG00000116661.11 | transcript | ENST00000354287.5 | protein_coding | 2/6 | 223/1287 | 134/891 | 45/296 | chr1 | TogoVar | ||
FERD3L_chr7_19139782_19150421 | 19145123 | C | CTCT | disruptive_inframe_insertion | MODERATE | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(73): Show |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0001a0002c0002t0003a0004c0005t0001 | a0002c0002t0001g0000a0002c0002t0003g0000a0004c0005t0001g0000 | 76 | 470 | 0.1617 | 3 | c.237 others(10): Show |
p.Glu others(5): Show |
FERD3L | ENSG00000146618.3 | transcript | ENST00000275461.3 | protein_coding | 1/1 | 298/640 | 239/501 | 80/166 | chr7 | TogoVar | ||
FEZ1_chr11_125437881_125501265 | 125489688 | G | GAAACACT others(20): Show |
disruptive_inframe_insertion | MODERATE | NA19057.hp2 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0206 | 1 | 356 | 0.0028 | 27 | c.63_ others(32): Show |
p.Cys others(38): Show |
FEZ1 | ENSG00000149557.14 | transcript | ENST00000278919.8 | protein_coding | 2/10 | 279/4583 | 89/1179 | 30/392 | chr11 | TogoVar |