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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADGRE5_chr19_14376444_14413723 | 14397107 | C | T | missense_variant | MODERATE | HG02273.hp1 | a0010 | a0010c0016 | a0010c0016t0001 | a0010c0016t0001g0009 | 1 | 374 | 0.0027 | 0 | c.509 others(3): Show |
p.Pro others(6): Show |
ADGRE5 | ENSG00000123146.20 | transcript | ENST00000242786.6 | protein_coding | 6/20 | 589/3190 | 509/2508 | 170/835 | chr19 | TogoVar | ||
ADGRE5_chr19_14376444_14413723 | 14397157 | C | T | missense_variant | MODERATE | NA18990.hp2 | a0012 | a0012c0027 | a0012c0027t0001 | a0012c0027t0001g0103 | 1 | 374 | 0.0027 | 0 | c.559 others(3): Show |
p.Arg others(6): Show |
ADGRE5 | ENSG00000123146.20 | transcript | ENST00000242786.6 | protein_coding | 6/20 | 639/3190 | 559/2508 | 187/835 | chr19 | TogoVar | ||
ADGRE5_chr19_14376444_14413723 | 14401444 | C | T | missense_variant | MODERATE | HG02886.hp2 HG03098.hp2 HG03209.hp1 others(1): Show |
a0005 | a0005c0007a0005c0019 | a0005c0007t0002a0005c0019t0002 | a0005c0007t0002g0019a0005c0007t0002g0020a0005c0007t0002g0305others(1): Show | 4 | 374 | 0.0107 | 0 | c.956 others(3): Show |
p.Ala others(6): Show |
ADGRE5 | ENSG00000123146.20 | transcript | ENST00000242786.6 | protein_coding | 10/20 | 1036/3190 | 956/2508 | 319/835 | chr19 | TogoVar | ||
ADGRE5_chr19_14376444_14413723 | 14401467 | G | C | missense_variant | MODERATE | NA18975.hp1 | a0017 | a0017c0020 | a0017c0020t0002 | a0017c0020t0002g0065 | 1 | 374 | 0.0027 | 0 | c.979 others(3): Show |
p.Ala others(6): Show |
ADGRE5 | ENSG00000123146.20 | transcript | ENST00000242786.6 | protein_coding | 10/20 | 1059/3190 | 979/2508 | 327/835 | chr19 | TogoVar | ||
ADGRE5_chr19_14376444_14413723 | 14401676 | C | T | missense_variant | MODERATE | HG01891.hp1 NA20129.hp1 |
a0007 | a0007c0011 | a0007c0011t0001a0007c0011t0002 | a0007c0011t0001g0194a0007c0011t0002g0164 | 2 | 374 | 0.0054 | 0 | c.109 others(4): Show |
p.Arg others(6): Show |
ADGRE5 | ENSG00000123146.20 | transcript | ENST00000242786.6 | protein_coding | 11/20 | 1179/3190 | 1099/2508 | 367/835 | chr19 | TogoVar | ||
ADGRE5_chr19_14376444_14413723 | 14401677 | G | A | missense_variant | MODERATE | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(82): Show |
a0002a0006a0012 | a0002c0002a0002c0013a0006c0010others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0013t0001others(2): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0033others(79): Show | 85 | 374 | 0.2273 | 0 | c.110 others(4): Show |
p.Arg others(6): Show |
ADGRE5 | ENSG00000123146.20 | transcript | ENST00000242786.6 | protein_coding | 11/20 | 1180/3190 | 1100/2508 | 367/835 | chr19 | TogoVar | ||
ADGRE5_chr19_14376444_14413723 | 14405854 | G | A | missense_variant | MODERATE | HG02071.hp1 | a0013 | a0013c0021 | a0013c0021t0001 | a0013c0021t0001g0256 | 1 | 374 | 0.0027 | 0 | c.173 others(4): Show |
p.Arg others(6): Show |
ADGRE5 | ENSG00000123146.20 | transcript | ENST00000242786.6 | protein_coding | 14/20 | 1816/3190 | 1736/2508 | 579/835 | chr19 | TogoVar | ||
ADGRE5_chr19_14376444_14413723 | 14406924 | A | G | missense_variant | MODERATE | HG01981.hp1 | a0016 | a0016c0024 | a0016c0024t0002 | a0016c0024t0002g0026 | 1 | 374 | 0.0027 | 0 | c.217 others(4): Show |
p.Glu others(6): Show |
ADGRE5 | ENSG00000123146.20 | transcript | ENST00000242786.6 | protein_coding | 17/20 | 2251/3190 | 2171/2508 | 724/835 | chr19 | TogoVar | ||
ADGRE5_chr19_14376444_14413723 | 14408102 | C | T | missense_variant | MODERATE | HG00738.hp1 | a0015 | a0015c0023 | a0015c0023t0002 | a0015c0023t0002g0042 | 1 | 374 | 0.0027 | 0 | c.248 others(4): Show |
p.Ala others(6): Show |
ADGRE5 | ENSG00000123146.20 | transcript | ENST00000242786.6 | protein_coding | 20/20 | 2569/3190 | 2489/2508 | 830/835 | chr19 | TogoVar | ||
ADGRE5_chr19_14376444_14413723 | 14408109 | G | C | missense_variant | MODERATE | HG01515.hp2 | a0014 | a0014c0022 | a0014c0022t0001 | a0014c0022t0001g0250 | 1 | 374 | 0.0027 | 0 | c.249 others(4): Show |
p.Glu others(6): Show |
ADGRE5 | ENSG00000123146.20 | transcript | ENST00000242786.6 | protein_coding | 20/20 | 2576/3190 | 2496/2508 | 832/835 | chr19 | TogoVar | ||
ADGRF1_chr6_46992708_47047332 | 47007284 | A | T | missense_variant | MODERATE | NA18986.hp2 | a0014 | a0014c0018 | a0014c0018t0006 | a0014c0018t0006g0281 | 1 | 400 | 0.0025 | 0 | c.250 others(4): Show |
p.Ile others(6): Show |
ADGRF1 | ENSG00000153292.16 | transcript | ENST00000371253.7 | protein_coding | 12/15 | 2686/5432 | 2501/2733 | 834/910 | chr6 | TogoVar | ||
ADGRF1_chr6_46992708_47047332 | 47009003 | A | G | missense_variant | MODERATE | NA18994.hp1 NA19078.hp1 |
a0007 | a0007c0011 | a0007c0011t0002a0007c0011t0005 | a0007c0011t0002g0270a0007c0011t0005g0152 | 2 | 400 | 0.0050 | 0 | c.243 others(4): Show |
p.Ile others(6): Show |
ADGRF1 | ENSG00000153292.16 | transcript | ENST00000371253.7 | protein_coding | 11/15 | 2617/5432 | 2432/2733 | 811/910 | chr6 | TogoVar | ||
ADGRF1_chr6_46992708_47047332 | 47009028 | T | G | missense_variant | MODERATE | HG01255.hp1 HG02572.hp1 HG02896.hp2 |
a0006 | a0006c0010 | a0006c0010t0019a0006c0010t0041 | a0006c0010t0019g0119a0006c0010t0019g0125a0006c0010t0041g0313 | 3 | 400 | 0.0075 | 0 | c.240 others(4): Show |
p.Thr others(6): Show |
ADGRF1 | ENSG00000153292.16 | transcript | ENST00000371253.7 | protein_coding | 11/15 | 2592/5432 | 2407/2733 | 803/910 | chr6 | TogoVar | ||
ADGRF1_chr6_46992708_47047332 | 47009076 | T | C | missense_variant | MODERATE | HG00408.hp2 HG00558.hp2 HG00597.hp2 others(90): Show |
a0002a0005a0006others(2): Show | a0002c0002a0002c0008a0002c0019others(6): Show | a0002c0002t0003a0002c0002t0006a0002c0002t0008others(18): Show | a0002c0002t0003g0004a0002c0002t0003g0006a0002c0002t0003g0015others(75): Show | 93 | 400 | 0.2325 | 0 | c.235 others(4): Show |
p.Ile others(6): Show |
ADGRF1 | ENSG00000153292.16 | transcript | ENST00000371253.7 | protein_coding | 11/15 | 2544/5432 | 2359/2733 | 787/910 | chr6 | TogoVar | ||
ADGRF1_chr6_46992708_47047332 | 47009273 | G | A | missense_variant | MODERATE | NA18967.hp2 NA18998.hp1 |
a0008 | a0008c0013 | a0008c0013t0003 | a0008c0013t0003g0022 | 2 | 400 | 0.0050 | 0 | c.216 others(4): Show |
p.Thr others(6): Show |
ADGRF1 | ENSG00000153292.16 | transcript | ENST00000371253.7 | protein_coding | 11/15 | 2347/5432 | 2162/2733 | 721/910 | chr6 | TogoVar | ||
ADGRF1_chr6_46992708_47047332 | 47009722 | T | C | missense_variant | MODERATE | HG00408.hp2 HG00558.hp2 HG00597.hp2 others(91): Show |
a0002a0005a0006others(3): Show | a0002c0002a0002c0008a0002c0019others(7): Show | a0002c0002t0003a0002c0002t0006a0002c0002t0008others(19): Show | a0002c0002t0003g0004a0002c0002t0003g0006a0002c0002t0003g0015others(76): Show | 94 | 400 | 0.2350 | 0 | c.171 others(4): Show |
p.Ile others(6): Show |
ADGRF1 | ENSG00000153292.16 | transcript | ENST00000371253.7 | protein_coding | 11/15 | 1898/5432 | 1713/2733 | 571/910 | chr6 | TogoVar | ||
ADGRF1_chr6_46992708_47047332 | 47010047 | C | T | missense_variant | MODERATE | HG01109.hp2 HG01168.hp1 HG01169.hp2 others(6): Show |
a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0138a0003c0004t0007g0139a0003c0004t0007g0158others(6): Show | 9 | 400 | 0.0225 | 0 | c.138 others(4): Show |
p.Arg others(6): Show |
ADGRF1 | ENSG00000153292.16 | transcript | ENST00000371253.7 | protein_coding | 11/15 | 1573/5432 | 1388/2733 | 463/910 | chr6 | TogoVar | ||
ADGRF1_chr6_46992708_47047332 | 47010113 | A | T | missense_variant | MODERATE | NA18941.hp1 NA18995.hp2 NA18998.hp2 others(3): Show |
a0004 | a0004c0005 | a0004c0005t0002a0004c0005t0005 | a0004c0005t0002g0034a0004c0005t0002g0255a0004c0005t0002g0262others(2): Show | 6 | 400 | 0.0150 | 0 | c.132 others(4): Show |
p.Leu others(6): Show |
ADGRF1 | ENSG00000153292.16 | transcript | ENST00000371253.7 | protein_coding | 11/15 | 1507/5432 | 1322/2733 | 441/910 | chr6 | TogoVar | ||
ADGRF1_chr6_46992708_47047332 | 47010158 | C | T | missense_variant | MODERATE | HG01891.hp2 HG02451.hp1 HG02818.hp1 |
a0005 | a0005c0009 | a0005c0009t0006a0005c0009t0021 | a0005c0009t0006g0331a0005c0009t0021g0328a0005c0009t0021g0329 | 3 | 400 | 0.0075 | 0 | c.127 others(4): Show |
p.Arg others(6): Show |
ADGRF1 | ENSG00000153292.16 | transcript | ENST00000371253.7 | protein_coding | 11/15 | 1462/5432 | 1277/2733 | 426/910 | chr6 | TogoVar | ||
ADGRF1_chr6_46992708_47047332 | 47016637 | G | C | missense_variant | MODERATE | HG03130.hp2 | a0012 | a0012c0020 | a0012c0020t0003 | a0012c0020t0003g0149 | 1 | 400 | 0.0025 | 0 | c.743 others(3): Show |
p.Ser others(6): Show |
ADGRF1 | ENSG00000153292.16 | transcript | ENST00000371253.7 | protein_coding | 8/15 | 928/5432 | 743/2733 | 248/910 | chr6 | TogoVar | ||
ADGRF1_chr6_46992708_47047332 | 47020740 | G | A | missense_variant | MODERATE | HG03710.hp2 | a0011 | a0011c0021 | a0011c0021t0002 | a0011c0021t0002g0282 | 1 | 400 | 0.0025 | 0 | c.602 others(3): Show |
p.Thr others(6): Show |
ADGRF1 | ENSG00000153292.16 | transcript | ENST00000371253.7 | protein_coding | 7/15 | 787/5432 | 602/2733 | 201/910 | chr6 | TogoVar | ||
ADGRF1_chr6_46992708_47047332 | 47024207 | G | C | missense_variant | MODERATE | HG03471.hp1 | a0010 | a0010c0022 | a0010c0022t0006 | a0010c0022t0006g0307 | 1 | 400 | 0.0025 | 0 | c.288 others(3): Show |
p.Ser others(5): Show |
ADGRF1 | ENSG00000153292.16 | transcript | ENST00000371253.7 | protein_coding | 5/15 | 473/5432 | 288/2733 | 96/910 | chr6 | TogoVar | ||
ADGRF1_chr6_46992708_47047332 | 47026003 | C | T | missense_variant others(1): Show |
MODERATE | HG04204.hp1 | a0009 | a0009c0015 | a0009c0015t0001 | a0009c0015t0001g0222 | 1 | 400 | 0.0025 | 0 | c.128 others(3): Show |
p.Gly others(5): Show |
ADGRF1 | ENSG00000153292.16 | transcript | ENST00000371253.7 | protein_coding | 4/15 | 313/5432 | 128/2733 | 43/910 | chr6 | TogoVar | ||
ADGRF1_chr6_46992708_47047332 | 47027752 | C | T | missense_variant | MODERATE | HG02683.hp1 | a0015 | a0015c0014 | a0015c0014t0002 | a0015c0014t0002g0240 | 1 | 400 | 0.0025 | 0 | c.79G others(2): Show |
p.Gly others(5): Show |
ADGRF1 | ENSG00000153292.16 | transcript | ENST00000371253.7 | protein_coding | 3/15 | 264/5432 | 79/2733 | 27/910 | chr6 | TogoVar | ||
ADGRF3_chr2_26303175_26351789 | 26309574 | T | C | missense_variant | MODERATE | HG02523.hp2 | a0021 | a0021c0034 | a0021c0034t0001 | a0021c0034t0001g0176 | 1 | 322 | 0.0031 | 0 | c.294 others(4): Show |
p.Asn others(6): Show |
ADGRF3 | ENSG00000173567.16 | transcript | ENST00000651242.2 | protein_coding | 13/14 | 3500/4481 | 2945/3015 | 982/1004 | chr2 | TogoVar | ||
ADGRF3_chr2_26303175_26351789 | 26309575 | T | C | missense_variant | MODERATE | HG00642.hp1 HG01069.hp2 HG01167.hp2 others(12): Show |
a0005a0008a0012others(4): Show | a0005c0004a0008c0008a0012c0018others(4): Show | a0005c0004t0001a0008c0008t0002a0012c0018t0002others(4): Show | a0005c0004t0001g0049a0005c0004t0001g0062a0005c0004t0001g0133others(12): Show | 15 | 322 | 0.0466 | 0 | c.294 others(4): Show |
p.Asn others(6): Show |
ADGRF3 | ENSG00000173567.16 | transcript | ENST00000651242.2 | protein_coding | 13/14 | 3499/4481 | 2944/3015 | 982/1004 | chr2 | TogoVar | ||
ADGRF3_chr2_26303175_26351789 | 26310105 | T | C | missense_variant others(1): Show |
MODERATE | HG01069.hp1 HG01071.hp2 HG01106.hp2 others(3): Show |
a0009a0010 | a0009c0016a0010c0012 | a0009c0016t0001a0010c0012t0001 | a0009c0016t0001g0014a0009c0016t0001g0253a0010c0012t0001g0200others(2): Show | 6 | 322 | 0.0186 | 0 | c.287 others(4): Show |
p.Ile others(6): Show |
ADGRF3 | ENSG00000173567.16 | transcript | ENST00000651242.2 | protein_coding | 12/14 | 3430/4481 | 2875/3015 | 959/1004 | chr2 | TogoVar | ||
ADGRF3_chr2_26303175_26351789 | 26310814 | T | C | missense_variant | MODERATE | NA20129.hp2 | a0025 | a0025c0028 | a0025c0028t0001 | a0025c0028t0001g0142 | 1 | 322 | 0.0031 | 0 | c.271 others(4): Show |
p.Ile others(6): Show |
ADGRF3 | ENSG00000173567.16 | transcript | ENST00000651242.2 | protein_coding | 10/14 | 3265/4481 | 2710/3015 | 904/1004 | chr2 | TogoVar | ||
ADGRF3_chr2_26303175_26351789 | 26310867 | G | C | missense_variant | MODERATE | HG00639.hp1 | a0022 | a0022c0035 | a0022c0035t0001 | a0022c0035t0001g0129 | 1 | 322 | 0.0031 | 0 | c.265 others(4): Show |
p.Pro others(6): Show |
ADGRF3 | ENSG00000173567.16 | transcript | ENST00000651242.2 | protein_coding | 10/14 | 3212/4481 | 2657/3015 | 886/1004 | chr2 | TogoVar | ||
ADGRF3_chr2_26303175_26351789 | 26311030 | C | T | missense_variant | MODERATE | HG03654.hp1 | a0020 | a0020c0033 | a0020c0033t0001 | a0020c0033t0001g0128 | 1 | 322 | 0.0031 | 0 | c.249 others(4): Show |
p.Val others(6): Show |
ADGRF3 | ENSG00000173567.16 | transcript | ENST00000651242.2 | protein_coding | 10/14 | 3049/4481 | 2494/3015 | 832/1004 | chr2 | TogoVar | ||
ADGRF3_chr2_26303175_26351789 | 26311140 | G | A | missense_variant | MODERATE | HG02055.hp2 HG02976.hp2 |
a0023a0032 | a0023c0032a0032c0023 | a0023c0032t0001a0032c0023t0001 | a0023c0032t0001g0280a0032c0023t0001g0119 | 2 | 322 | 0.0062 | 0 | c.238 others(4): Show |
p.Ala others(6): Show |
ADGRF3 | ENSG00000173567.16 | transcript | ENST00000651242.2 | protein_coding | 10/14 | 2939/4481 | 2384/3015 | 795/1004 | chr2 | TogoVar | ||
ADGRF3_chr2_26303175_26351789 | 26311173 | T | C | missense_variant | MODERATE | HG00140.hp1 | a0019 | a0019c0037 | a0019c0037t0001 | a0019c0037t0001g0144 | 1 | 322 | 0.0031 | 0 | c.235 others(4): Show |
p.Tyr others(6): Show |
ADGRF3 | ENSG00000173567.16 | transcript | ENST00000651242.2 | protein_coding | 10/14 | 2906/4481 | 2351/3015 | 784/1004 | chr2 | TogoVar | ||
ADGRF3_chr2_26303175_26351789 | 26311287 | T | A | missense_variant | MODERATE | HG03579.hp2 | a0024 | a0024c0029 | a0024c0029t0001 | a0024c0029t0001g0069 | 1 | 322 | 0.0031 | 0 | c.223 others(4): Show |
p.Asn others(6): Show |
ADGRF3 | ENSG00000173567.16 | transcript | ENST00000651242.2 | protein_coding | 10/14 | 2792/4481 | 2237/3015 | 746/1004 | chr2 | TogoVar | ||
ADGRF3_chr2_26303175_26351789 | 26311382 | T | C | missense_variant | MODERATE | HG00738.hp1 HG03669.hp1 NA20752.hp1 others(1): Show |
a0006 | a0006c0015a0006c0038 | a0006c0015t0001a0006c0038t0001 | a0006c0015t0001g0024a0006c0015t0001g0160a0006c0015t0001g0162others(1): Show | 4 | 322 | 0.0124 | 0 | c.214 others(4): Show |
p.Ile others(6): Show |
ADGRF3 | ENSG00000173567.16 | transcript | ENST00000651242.2 | protein_coding | 10/14 | 2697/4481 | 2142/3015 | 714/1004 | chr2 | TogoVar | ||
ADGRF3_chr2_26303175_26351789 | 26311434 | G | A | missense_variant | MODERATE | HG01243.hp1 HG02559.hp2 |
a0014 | a0014c0017 | a0014c0017t0003 | a0014c0017t0003g0103a0014c0017t0003g0104 | 2 | 322 | 0.0062 | 0 | c.209 others(4): Show |
p.Pro others(6): Show |
ADGRF3 | ENSG00000173567.16 | transcript | ENST00000651242.2 | protein_coding | 10/14 | 2645/4481 | 2090/3015 | 697/1004 | chr2 | TogoVar | ||
ADGRF3_chr2_26303175_26351789 | 26311534 | C | T | missense_variant | MODERATE | HG00609.hp2 NA19007.hp1 |
a0013 | a0013c0019 | a0013c0019t0001 | a0013c0019t0001g0182a0013c0019t0001g0183 | 2 | 322 | 0.0062 | 0 | c.199 others(4): Show |
p.Glu others(6): Show |
ADGRF3 | ENSG00000173567.16 | transcript | ENST00000651242.2 | protein_coding | 10/14 | 2545/4481 | 1990/3015 | 664/1004 | chr2 | TogoVar | ||
ADGRF3_chr2_26303175_26351789 | 26311830 | A | G | missense_variant | MODERATE | HG00741.hp2 HG02055.hp2 HG02976.hp2 |
a0023a0031a0032 | a0023c0032a0031c0022a0032c0023 | a0023c0032t0001a0031c0022t0001a0032c0023t0001 | a0023c0032t0001g0280a0031c0022t0001g0277a0032c0023t0001g0119 | 3 | 322 | 0.0093 | 0 | c.169 others(4): Show |
p.Leu others(6): Show |
ADGRF3 | ENSG00000173567.16 | transcript | ENST00000651242.2 | protein_coding | 10/14 | 2249/4481 | 1694/3015 | 565/1004 | chr2 | TogoVar | ||
ADGRF3_chr2_26303175_26351789 | 26311933 | G | A | missense_variant | MODERATE | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(197): Show |
a0001a0003a0007others(12): Show | a0001c0001a0001c0006a0001c0013others(16): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(19): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(179): Show | 200 | 322 | 0.6211 | 0 | c.159 others(4): Show |
p.His others(6): Show |
ADGRF3 | ENSG00000173567.16 | transcript | ENST00000651242.2 | protein_coding | 10/14 | 2146/4481 | 1591/3015 | 531/1004 | chr2 | TogoVar | ||
ADGRF3_chr2_26303175_26351789 | 26311945 | A | G | missense_variant | MODERATE | HG01167.hp2 HG02055.hp1 HG02109.hp2 others(7): Show |
a0008a0012a0016others(3): Show | a0008c0008a0012c0018a0016c0042others(3): Show | a0008c0008t0002a0012c0018t0002a0016c0042t0002others(3): Show | a0008c0008t0002g0255a0008c0008t0002g0270a0008c0008t0002g0271others(7): Show | 10 | 322 | 0.0311 | 0 | c.157 others(4): Show |
p.Cys others(6): Show |
ADGRF3 | ENSG00000173567.16 | transcript | ENST00000651242.2 | protein_coding | 10/14 | 2134/4481 | 1579/3015 | 527/1004 | chr2 | TogoVar | ||
ADGRF3_chr2_26303175_26351789 | 26312004 | C | T | missense_variant | MODERATE | HG00642.hp1 HG01069.hp1 HG01069.hp2 others(18): Show |
a0005a0008a0009others(6): Show | a0005c0004a0008c0008a0009c0016others(6): Show | a0005c0004t0001a0008c0008t0002a0009c0016t0001others(6): Show | a0005c0004t0001g0049a0005c0004t0001g0062a0005c0004t0001g0133others(17): Show | 21 | 322 | 0.0652 | 0 | c.152 others(4): Show |
p.Arg others(6): Show |
ADGRF3 | ENSG00000173567.16 | transcript | ENST00000651242.2 | protein_coding | 10/14 | 2075/4481 | 1520/3015 | 507/1004 | chr2 | TogoVar | ||
ADGRF3_chr2_26303175_26351789 | 26312073 | T | C | missense_variant others(1): Show |
MODERATE | HG02055.hp1 HG03130.hp1 |
a0017a0026 | a0017c0041a0026c0030 | a0017c0041t0002a0026c0030t0002 | a0017c0041t0002g0266a0026c0030t0002g0022 | 2 | 322 | 0.0062 | 0 | c.145 others(4): Show |
p.Asn others(6): Show |
ADGRF3 | ENSG00000173567.16 | transcript | ENST00000651242.2 | protein_coding | 10/14 | 2006/4481 | 1451/3015 | 484/1004 | chr2 | TogoVar | ||
ADGRF3_chr2_26303175_26351789 | 26313826 | C | T | missense_variant | MODERATE | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(196): Show |
a0001a0004a0005others(10): Show | a0001c0001a0001c0006a0001c0013others(15): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(20): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(177): Show | 199 | 322 | 0.6180 | 0 | c.100 others(4): Show |
p.Ala others(6): Show |
ADGRF3 | ENSG00000173567.16 | transcript | ENST00000651242.2 | protein_coding | 7/14 | 1561/4481 | 1006/3015 | 336/1004 | chr2 | TogoVar | ||
ADGRF3_chr2_26303175_26351789 | 26313859 | C | T | missense_variant | MODERATE | HG00642.hp1 HG01069.hp2 HG01433.hp1 others(5): Show |
a0005a0012a0017 | a0005c0004a0012c0018a0017c0041 | a0005c0004t0001a0012c0018t0002a0017c0041t0002 | a0005c0004t0001g0049a0005c0004t0001g0062a0005c0004t0001g0133others(5): Show | 8 | 322 | 0.0248 | 0 | c.973 others(3): Show |
p.Val others(6): Show |
ADGRF3 | ENSG00000173567.16 | transcript | ENST00000651242.2 | protein_coding | 7/14 | 1528/4481 | 973/3015 | 325/1004 | chr2 | TogoVar | ||
ADGRF3_chr2_26303175_26351789 | 26314444 | C | T | missense_variant | MODERATE | HG01167.hp2 HG02109.hp2 HG03471.hp1 others(1): Show |
a0008 | a0008c0008 | a0008c0008t0002 | a0008c0008t0002g0255a0008c0008t0002g0270a0008c0008t0002g0271others(1): Show | 4 | 322 | 0.0124 | 0 | c.898 others(3): Show |
p.Ala others(6): Show |
ADGRF3 | ENSG00000173567.16 | transcript | ENST00000651242.2 | protein_coding | 6/14 | 1453/4481 | 898/3015 | 300/1004 | chr2 | TogoVar | ||
ADGRF3_chr2_26303175_26351789 | 26314456 | G | C | missense_variant | MODERATE | HG02148.hp2 | a0027 | a0027c0039 | a0027c0039t0001 | a0027c0039t0001g0056 | 1 | 322 | 0.0031 | 0 | c.886 others(3): Show |
p.Leu others(6): Show |
ADGRF3 | ENSG00000173567.16 | transcript | ENST00000651242.2 | protein_coding | 6/14 | 1441/4481 | 886/3015 | 296/1004 | chr2 | TogoVar | ||
ADGRF3_chr2_26303175_26351789 | 26314596 | T | C | missense_variant | MODERATE | NA19067.hp1 | a0028 | a0028c0040 | a0028c0040t0001 | a0028c0040t0001g0225 | 1 | 322 | 0.0031 | 0 | c.746 others(3): Show |
p.Gln others(6): Show |
ADGRF3 | ENSG00000173567.16 | transcript | ENST00000651242.2 | protein_coding | 6/14 | 1301/4481 | 746/3015 | 249/1004 | chr2 | TogoVar | ||
ADGRF3_chr2_26303175_26351789 | 26315537 | A | T | missense_variant | MODERATE | HG02135.hp1 | a0029 | a0029c0025 | a0029c0025t0001 | a0029c0025t0001g0180 | 1 | 322 | 0.0031 | 0 | c.703 others(3): Show |
p.Ser others(6): Show |
ADGRF3 | ENSG00000173567.16 | transcript | ENST00000651242.2 | protein_coding | 5/14 | 1258/4481 | 703/3015 | 235/1004 | chr2 | TogoVar | ||
ADGRF3_chr2_26303175_26351789 | 26316336 | C | A | missense_variant | MODERATE | HG01069.hp1 HG01071.hp2 HG01106.hp2 others(3): Show |
a0009a0011a0016 | a0009c0016a0011c0021a0016c0042 | a0009c0016t0001a0011c0021t0001a0016c0042t0002 | a0009c0016t0001g0014a0009c0016t0001g0253a0011c0021t0001g0258others(2): Show | 6 | 322 | 0.0186 | 0 | c.438 others(3): Show |
p.Gln others(6): Show |
ADGRF3 | ENSG00000173567.16 | transcript | ENST00000651242.2 | protein_coding | 4/14 | 993/4481 | 438/3015 | 146/1004 | chr2 | TogoVar | ||
ADGRF3_chr2_26303175_26351789 | 26316938 | A | G | missense_variant | MODERATE | HG00741.hp2 HG01109.hp1 HG01167.hp2 others(10): Show |
a0007a0008a0014others(3): Show | a0007c0009a0008c0008a0014c0017others(3): Show | a0007c0009t0001a0008c0008t0002a0014c0017t0003others(3): Show | a0007c0009t0001g0035a0007c0009t0001g0036a0007c0009t0001g0067others(10): Show | 13 | 322 | 0.0404 | 0 | c.299 others(3): Show |
p.Leu others(6): Show |
ADGRF3 | ENSG00000173567.16 | transcript | ENST00000651242.2 | protein_coding | 3/14 | 854/4481 | 299/3015 | 100/1004 | chr2 | TogoVar | ||
ADGRF3_chr2_26303175_26351789 | 26346198 | T | C | missense_variant | MODERATE | NA18966.hp2 | a0015 | a0015c0043 | a0015c0043t0001 | a0015c0043t0001g0287 | 1 | 322 | 0.0031 | 0 | c.37A others(2): Show |
p.Thr others(5): Show |
ADGRF3 | ENSG00000173567.16 | transcript | ENST00000651242.2 | protein_coding | 1/14 | 592/4481 | 37/3015 | 13/1004 | chr2 | TogoVar |