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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CYP2A7_chr19_40870439_40887231 | 40880481 | T | C | missense_variant others(1): Show |
MODERATE | HG01243.hp2 HG01928.hp2 |
a0021 | a0021c0025 | a0021c0025t0010 | a0021c0025t0010g0115a0021c0025t0010g0116 | 2 | 398 | 0.0050 | 0 | c.491 others(3): Show |
p.His others(6): Show |
CYP2A7 | ENSG00000198077.11 | transcript | ENST00000301146.9 | protein_coding | 3/9 | 512/1760 | 491/1485 | 164/494 | chr19 | TogoVar | ||
CYP2A7_chr19_40870439_40887231 | 40881751 | A | T | missense_variant others(1): Show |
MODERATE | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(225): Show |
a0001a0002a0006others(11): Show | a0001c0001a0001c0026a0001c0030others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0024others(94): Show | 228 | 398 | 0.5729 | 0 | c.181 others(3): Show |
p.Phe others(5): Show |
CYP2A7 | ENSG00000198077.11 | transcript | ENST00000301146.9 | protein_coding | 2/9 | 202/1760 | 181/1485 | 61/494 | chr19 | TogoVar | ||
CYP2B6_chr19_40986282_41023398 | 41012493 | C | A | splice_region_variant others(1): Show |
LOW | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0211 | 1 | 440 | 0.0023 | 0 | c.115 others(6): Show |
CYP2B6 | ENSG00000197408.10 | transcript | ENST00000324071.10 | protein_coding | 7/8 | chr19 | TogoVar | ||||||
CYP2B6_chr19_40986282_41023398 | 41012674 | G | T | missense_variant others(1): Show |
MODERATE | NA18945.hp2 | a0015 | a0015c0027 | a0015c0027t0002 | a0015c0027t0002g0018 | 1 | 440 | 0.0023 | 0 | c.115 others(4): Show |
p.Asp others(6): Show |
CYP2B6 | ENSG00000197408.10 | transcript | ENST00000324071.10 | protein_coding | 8/9 | 1177/3071 | 1153/1476 | 385/491 | chr19 | TogoVar | ||
CYP2B6_chr19_40986282_41023398 | 41012822 | T | C | splice_region_variant others(1): Show |
LOW | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0133 | 1 | 440 | 0.0023 | 0 | c.129 others(6): Show |
CYP2B6 | ENSG00000197408.10 | transcript | ENST00000324071.10 | protein_coding | 8/8 | chr19 | TogoVar | ||||||
CYP2C18_chr10_94678729_94741190 | 94733437 | A | G | splice_region_variant others(1): Show |
LOW | NA19000.hp1 | a0002 | a0002c0011 | a0002c0011t0003 | a0002c0011t0003g0077 | 1 | 378 | 0.0027 | 0 | c.129 others(4): Show |
p.Ala others(6): Show |
CYP2C18 | ENSG00000108242.13 | transcript | ENST00000285979.11 | protein_coding | 8/9 | 1381/2310 | 1290/1473 | 430/490 | chr10 | TogoVar | ||
CYP2C19_chr10_94757681_94860547 | 94775539 | G | C | missense_variant others(1): Show |
MODERATE | NA18984.hp1 | a0010 | a0010c0013 | a0010c0013t0002 | a0010c0013t0002g0260 | 1 | 364 | 0.0028 | 0 | c.481 others(3): Show |
p.Ala others(6): Show |
CYP2C19 | ENSG00000165841.11 | transcript | ENST00000371321.9 | protein_coding | 3/9 | 506/4131 | 481/1473 | 161/490 | chr10 | TogoVar | ||
CYP2C8_chr10_95031772_95074497 | 95037317 | T | C | splice_region_variant others(1): Show |
LOW | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 376 | 0.0027 | 0 | c.129 others(6): Show |
CYP2C8 | ENSG00000138115.15 | transcript | ENST00000371270.6 | protein_coding | 8/8 | chr10 | TogoVar | ||||||
CYP2C8_chr10_95031772_95074497 | 95045951 | C | A | stop_gained others(1): Show |
HIGH | HG02071.hp2 | a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0254 | 1 | 376 | 0.0027 | 0 | c.820 others(3): Show |
p.Glu others(4): Show |
CYP2C8 | ENSG00000138115.15 | transcript | ENST00000371270.6 | protein_coding | 6/9 | 915/1924 | 820/1473 | 274/490 | chr10 | TogoVar | ||
CYP2C8_chr10_95031772_95074497 | 95067209 | C | T | splice_region_variant others(1): Show |
LOW | HG01884.hp1 HG02109.hp1 HG02145.hp1 others(17): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0019a0001c0002t0001g0043a0001c0002t0001g0044others(11): Show | 20 | 376 | 0.0532 | 0 | c.480 others(3): Show |
p.Lys others(6): Show |
CYP2C8 | ENSG00000138115.15 | transcript | ENST00000371270.6 | protein_coding | 3/9 | 575/1924 | 480/1473 | 160/490 | chr10 | TogoVar | ||
CYP2C8_chr10_95031772_95074497 | 95067362 | T | TA | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00544.hp2 HG00609.hp2 others(140): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0002others(5): Show | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0149others(104): Show | 143 | 376 | 0.3803 | 1 | c.332 others(6): Show |
CYP2C8 | ENSG00000138115.15 | transcript | ENST00000371270.6 | protein_coding | 2/8 | chr10 | TogoVar | ||||||
CYP2D6_chr22_42121499_42135810 | 42126758 | G | A | splice_region_variant others(1): Show |
LOW | HG02486.hp1 HG02818.hp1 HG03579.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0019 | 3 | 417 | 0.0072 | 0 | c.131 others(6): Show |
CYP2D6 | ENSG00000100197.23 | transcript | ENST00000645361.2 | protein_coding | 8/8 | chr22 | TogoVar | ||||||
CYP2D6_chr22_42121499_42135810 | 42129033 | C | T | missense_variant others(1): Show |
MODERATE | HG02027.hp1 NA19080.hp1 |
a0014 | a0014c0016 | a0014c0016t0001 | a0014c0016t0001g0023 | 2 | 417 | 0.0048 | 0 | c.505 others(3): Show |
p.Gly others(6): Show |
CYP2D6 | ENSG00000100197.23 | transcript | ENST00000645361.2 | protein_coding | 3/9 | 524/1588 | 505/1494 | 169/497 | chr22 | TogoVar | ||
CYP2E1_chr10_133522363_133544123 | 133537249 | A | G | missense_variant others(1): Show |
MODERATE | NA18992.hp2 | a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0004 | 1 | 414 | 0.0024 | 0 | c.115 others(4): Show |
p.Lys others(6): Show |
CYP2E1 | ENSG00000130649.10 | transcript | ENST00000252945.8 | protein_coding | 7/9 | 1187/1674 | 1154/1482 | 385/493 | chr10 | TogoVar | ||
CYP2F1_chr19_41109432_41133381 | 41116362 | G | A | splice_region_variant others(1): Show |
LOW | HG00642.hp1 HG01167.hp2 HG01169.hp2 others(19): Show |
a0004a0008a0014 | a0004c0007a0004c0021a0008c0011others(1): Show | a0004c0007t0005a0004c0021t0002a0008c0011t0006others(1): Show | a0004c0007t0005g0011a0004c0007t0005g0012a0004c0007t0005g0098others(16): Show | 22 | 374 | 0.0588 | 0 | c.171 others(5): Show |
CYP2F1 | ENSG00000197446.9 | transcript | ENST00000331105.7 | protein_coding | 2/9 | chr19 | TogoVar | ||||||
CYP2F1_chr19_41109432_41133381 | 41120339 | C | G | splice_region_variant others(1): Show |
LOW | HG02486.hp1 HG03471.hp1 HG03516.hp1 others(3): Show |
a0004a0008a0014 | a0004c0021a0008c0011a0014c0020 | a0004c0021t0002a0008c0011t0006a0014c0020t0002 | a0004c0021t0002g0027a0008c0011t0006g0005a0008c0011t0006g0029others(2): Show | 6 | 374 | 0.0160 | 0 | c.335 others(5): Show |
CYP2F1 | ENSG00000197446.9 | transcript | ENST00000331105.7 | protein_coding | 3/9 | chr19 | TogoVar | ||||||
CYP2F1_chr19_41109432_41133381 | 41124711 | C | T | splice_region_variant others(1): Show |
LOW | NA18971.hp1 NA18973.hp2 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206a0001c0001t0001g0248a0001c0001t0001g0257 | 3 | 374 | 0.0080 | 0 | c.965 others(5): Show |
CYP2F1 | ENSG00000197446.9 | transcript | ENST00000331105.7 | protein_coding | 7/9 | chr19 | TogoVar | ||||||
CYP2J2_chr1_59888308_59931773 | 59893310 | T | C | splice_region_variant | LOW | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0027a0001c0001t0002g0046a0001c0001t0002g0047others(29): Show | 52 | 364 | 0.1429 | 0 | c.*34 others(4): Show |
CYP2J2 | ENSG00000134716.11 | transcript | ENST00000371204.4 | protein_coding | 9/9 | chr1 | TogoVar | ||||||
CYP2J2_chr1_59888308_59931773 | 59915940 | T | C | missense_variant others(1): Show |
MODERATE | NA21309.hp2 | a0005 | a0005c0013 | a0005c0013t0001 | a0005c0013t0001g0121 | 1 | 364 | 0.0028 | 0 | c.371 others(3): Show |
p.Asn others(6): Show |
CYP2J2 | ENSG00000134716.11 | transcript | ENST00000371204.4 | protein_coding | 2/9 | 398/1879 | 371/1509 | 124/502 | chr1 | TogoVar | ||
CYP2W1_chr7_978181_994640 | 984945 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(263): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0010others(13): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(19): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0016others(57): Show | 266 | 408 | 0.6520 | 0 | c.338 others(5): Show |
CYP2W1 | ENSG00000073067.14 | transcript | ENST00000308919.12 | protein_coding | 2/8 | chr7 | TogoVar | ||||||
CYP2W1_chr7_978181_994640 | 985106 | A | T | splice_region_variant others(1): Show |
LOW | NA19068.hp2 | a0009 | a0009c0021 | a0009c0021t0001 | a0009c0021t0001g0041 | 1 | 408 | 0.0025 | 0 | c.487 others(5): Show |
CYP2W1 | ENSG00000073067.14 | transcript | ENST00000308919.12 | protein_coding | 3/8 | chr7 | TogoVar | ||||||
CYP2W1_chr7_978181_994640 | 988267 | GC | G | splice_region_variant others(1): Show |
LOW | HG01928.hp1 HG01943.hp1 HG01975.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0018a0002c0003t0001g0056 | 5 | 408 | 0.0123 | -1 | c.114 others(7): Show |
CYP2W1 | ENSG00000073067.14 | transcript | ENST00000308919.12 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CYP39A1_chr6_46544580_46657818 | 46595981 | G | C | splice_region_variant others(1): Show |
LOW | HG01258.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0160 | 1 | 310 | 0.0032 | 0 | c.106 others(6): Show |
CYP39A1 | ENSG00000146233.8 | transcript | ENST00000275016.3 | protein_coding | 8/11 | chr6 | TogoVar | ||||||
CYP39A1_chr6_46544580_46657818 | 46629865 | ACTGTTGG others(1424): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG02723.hp2 | a0010 | a0010c0011 | a0010c0011t0001 | a0010c0011t0001g0178 | 1 | 310 | 0.0032 | -1431 | c.733 others(16): Show |
CYP39A1 | ENSG00000146233.8 | transcript | ENST00000275016.3 | protein_coding | 6/12 | chr6 | TogoVar | ||||||
CYP39A1_chr6_46544580_46657818 | 46639488 | A | G | splice_region_variant others(1): Show |
LOW | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 310 | 0.0032 | 0 | c.488 others(5): Show |
CYP39A1 | ENSG00000146233.8 | transcript | ENST00000275016.3 | protein_coding | 3/11 | chr6 | TogoVar | ||||||
CYP39A1_chr6_46544580_46657818 | 46652398 | C | T | splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG00423.hp2 HG00597.hp2 others(43): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0045a0001c0001t0001g0047a0001c0001t0001g0050others(43): Show | 46 | 310 | 0.1484 | 0 | c.177 others(5): Show |
CYP39A1 | ENSG00000146233.8 | transcript | ENST00000275016.3 | protein_coding | 1/11 | chr6 | TogoVar | ||||||
CYP3A43_chr7_99823013_99871093 | 99836454 | TA | T | frameshift_variant others(1): Show |
HIGH | HG01109.hp2 HG01516.hp1 HG01517.hp1 others(34): Show |
a0002 | a0002c0002a0002c0010a0002c0011others(3): Show | a0002c0002t0001a0002c0010t0001a0002c0011t0001others(3): Show | a0002c0002t0001g0037a0002c0002t0001g0039a0002c0002t0001g0040others(28): Show | 37 | 326 | 0.1135 | -1 | c.74d others(3): Show |
p.Tyr others(4): Show |
CYP3A43 | ENSG00000021461.18 | transcript | ENST00000354829.7 | protein_coding | 2/13 | 177/1707 | 74/1512 | 25/503 | chr7 | TogoVar | ||
CYP3A43_chr7_99823013_99871093 | 99848168 | G | T | missense_variant others(1): Show |
MODERATE | HG02895.hp2 HG02896.hp1 HG02897.hp1 others(5): Show |
a0002 | a0002c0010a0002c0011a0002c0015 | a0002c0010t0001a0002c0011t0001a0002c0015t0001 | a0002c0010t0001g0035a0002c0010t0001g0180a0002c0011t0001g0036others(2): Show | 8 | 326 | 0.0245 | 0 | c.435 others(3): Show |
p.Met others(6): Show |
CYP3A43 | ENSG00000021461.18 | transcript | ENST00000354829.7 | protein_coding | 6/13 | 538/1707 | 435/1512 | 145/503 | chr7 | TogoVar | ||
CYP3A43_chr7_99823013_99871093 | 99856905 | C | G | splice_region_variant others(1): Show |
LOW | HG01516.hp1 HG01517.hp1 HG03669.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0040a0002c0002t0001g0197a0002c0002t0001g0201others(1): Show | 5 | 326 | 0.0153 | 0 | c.865 others(5): Show |
CYP3A43 | ENSG00000021461.18 | transcript | ENST00000354829.7 | protein_coding | 9/12 | chr7 | TogoVar | ||||||
CYP3A43_chr7_99823013_99871093 | 99863537 | G | T | missense_variant others(1): Show |
MODERATE | HG02723.hp2 HG03098.hp2 |
a0005 | a0005c0012 | a0005c0012t0001 | a0005c0012t0001g0213a0005c0012t0001g0219 | 2 | 326 | 0.0061 | 0 | c.125 others(4): Show |
p.Arg others(6): Show |
CYP3A43 | ENSG00000021461.18 | transcript | ENST00000354829.7 | protein_coding | 12/13 | 1357/1707 | 1254/1512 | 418/503 | chr7 | TogoVar | ||
CYP3A43_chr7_99823013_99871093 | 99863766 | AAAAATTA others(2166): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | HG01109.hp2 HG01243.hp1 HG01884.hp2 others(25): Show |
a0002a0003a0007 | a0002c0010a0002c0011a0002c0014others(3): Show | a0002c0010t0001a0002c0011t0001a0002c0014t0001others(3): Show | a0002c0010t0001g0035a0002c0010t0001g0180a0002c0011t0001g0036others(13): Show | 28 | 326 | 0.0859 | -2173 | c.141 others(12): Show |
p.Ile others(13): Show |
CYP3A43 | ENSG00000021461.18 | transcript | ENST00000354829.7 | protein_coding | 13/13 | 1417/1512 | 473/503 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
CYP3A4_chr7_99751967_99789184 | 99769769 | C | G | missense_variant others(1): Show |
MODERATE | HG00099.hp2 HG00735.hp1 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0061a0005c0006t0001g0102 | 2 | 302 | 0.0066 | 0 | c.520 others(3): Show |
p.Asp others(6): Show |
CYP3A4 | ENSG00000160868.16 | transcript | ENST00000651514.1 | protein_coding | 6/13 | 623/2781 | 520/1512 | 174/503 | chr7 | TogoVar | ||
CYP3A5_chr7_99643194_99684996 | 99648403 | A | G | splice_region_variant others(1): Show |
LOW | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131 | 1 | 292 | 0.0034 | 0 | c.141 others(6): Show |
CYP3A5 | ENSG00000106258.16 | transcript | ENST00000222982.8 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
CYP3A5_chr7_99643194_99684996 | 99666601 | T | C | missense_variant others(1): Show |
MODERATE | HG04204.hp2 | a0007 | a0007c0010 | a0007c0010t0002 | a0007c0010t0002g0147 | 1 | 292 | 0.0034 | 0 | c.521 others(3): Show |
p.Asp others(6): Show |
CYP3A5 | ENSG00000106258.16 | transcript | ENST00000222982.8 | protein_coding | 6/13 | 621/1720 | 521/1509 | 174/502 | chr7 | TogoVar | ||
CYP4A11_chr1_46924188_46946476 | 46929189 | G | A | splice_region_variant | LOW | HG02922.hp2 | a0011 | a0011c0015 | a0011c0015t0015 | a0011c0015t0015g0099 | 1 | 428 | 0.0023 | 0 | c.*92 others(4): Show |
CYP4A11 | ENSG00000187048.14 | transcript | ENST00000310638.9 | protein_coding | 12/12 | chr1 | TogoVar | ||||||
CYP4A11_chr1_46924188_46946476 | 46933050 | G | A | splice_region_variant others(1): Show |
LOW | homoSapiens_chm13v2.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0043 | 1 | 428 | 0.0023 | 0 | c.122 others(6): Show |
CYP4A11 | ENSG00000187048.14 | transcript | ENST00000310638.9 | protein_coding | 9/11 | chr1 | TogoVar | ||||||
CYP4A11_chr1_46924188_46946476 | 46934078 | T | C | missense_variant others(1): Show |
MODERATE | NA18980.hp1 NA18999.hp1 NA19068.hp1 others(2): Show |
a0004 | a0004c0009 | a0004c0009t0003 | a0004c0009t0003g0014 | 5 | 428 | 0.0117 | 0 | c.109 others(4): Show |
p.Asn others(6): Show |
CYP4A11 | ENSG00000187048.14 | transcript | ENST00000310638.9 | protein_coding | 9/12 | 1133/2530 | 1090/1560 | 364/519 | chr1 | TogoVar | ||
CYP4B1_chr1_46794046_46824413 | 46812497 | G | A | splice_region_variant others(1): Show |
LOW | HG02015.hp1 HG02027.hp1 HG03654.hp1 others(6): Show |
a0004a0008 | a0004c0007a0008c0009 | a0004c0007t0001a0008c0009t0001 | a0004c0007t0001g0010a0004c0007t0001g0044a0004c0007t0001g0184others(2): Show | 9 | 400 | 0.0225 | 0 | c.369 others(3): Show |
p.Gly others(6): Show |
CYP4B1 | ENSG00000142973.16 | transcript | ENST00000371923.9 | protein_coding | 4/12 | 405/2174 | 369/1539 | 123/512 | chr1 | TogoVar | ||
CYP4B1_chr1_46794046_46824413 | 46815074 | GAT | G | frameshift_variant others(1): Show |
HIGH | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(66): Show |
a0003 | a0003c0003a0003c0018a0003c0019 | a0003c0003t0001a0003c0003t0003a0003c0018t0003others(1): Show | a0003c0003t0001g0009a0003c0003t0001g0035a0003c0003t0001g0103others(37): Show | 69 | 400 | 0.1725 | -2 | c.884 others(9): Show |
p.Asp others(5): Show |
CYP4B1 | ENSG00000142973.16 | transcript | ENST00000371923.9 | protein_coding | 8/12 | 920/2174 | 884/1539 | 295/512 | chr1 | TogoVar | ||
CYP4B1_chr1_46794046_46824413 | 46818033 | C | T | splice_region_variant others(1): Show |
LOW | HG02965.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0182 | 1 | 400 | 0.0025 | 0 | c.127 others(6): Show |
CYP4B1 | ENSG00000142973.16 | transcript | ENST00000371923.9 | protein_coding | 10/11 | chr1 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15922008 | ATCAGGAA others(33): Show |
A | splice_donor_variant others(3): Show |
HIGH | HG03139.hp1 | a0009 | a0009c0014 | a0009c0014t0007 | a0009c0014t0007g0070 | 1 | 386 | 0.0026 | -40 | c.110 others(52): Show |
p.Ile others(19): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 8/12 | 1104/1575 | 368/524 | chr19 | TogoVar | |||
CYP4F12_chr19_15668087_15702174 | 15680387 | A | G | splice_region_variant others(1): Show |
LOW | HG02257.hp2 HG02486.hp1 HG02615.hp1 others(4): Show |
a0005a0012 | a0005c0007a0012c0022 | a0005c0007t0004a0012c0022t0007 | a0005c0007t0004g0207a0005c0007t0004g0208a0005c0007t0004g0209others(4): Show | 7 | 410 | 0.0171 | 0 | c.398 others(5): Show |
CYP4F12 | ENSG00000186204.15 | transcript | ENST00000550308.6 | protein_coding | 4/12 | chr19 | TogoVar | ||||||
CYP4F12_chr19_15668087_15702174 | 15680389 | T | C | splice_region_variant others(1): Show |
LOW | HG02257.hp2 HG02486.hp1 HG02615.hp1 others(4): Show |
a0005a0012 | a0005c0007a0012c0022 | a0005c0007t0004a0012c0022t0007 | a0005c0007t0004g0207a0005c0007t0004g0208a0005c0007t0004g0209others(4): Show | 7 | 410 | 0.0171 | 0 | c.398 others(5): Show |
CYP4F12 | ENSG00000186204.15 | transcript | ENST00000550308.6 | protein_coding | 4/12 | chr19 | TogoVar | ||||||
CYP4F12_chr19_15668087_15702174 | 15680393 | A | G | splice_region_variant others(1): Show |
LOW | HG02257.hp2 HG02486.hp1 HG02615.hp1 others(4): Show |
a0005a0012 | a0005c0007a0012c0022 | a0005c0007t0004a0012c0022t0007 | a0005c0007t0004g0207a0005c0007t0004g0208a0005c0007t0004g0209others(4): Show | 7 | 410 | 0.0171 | 0 | c.399 others(3): Show |
p.Gly others(6): Show |
CYP4F12 | ENSG00000186204.15 | transcript | ENST00000550308.6 | protein_coding | 5/13 | 449/1714 | 399/1575 | 133/524 | chr19 | TogoVar | ||
CYP4F12_chr19_15668087_15702174 | 15683485 | C | G | splice_region_variant others(1): Show |
LOW | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0109 | 1 | 410 | 0.0024 | 0 | c.648 others(5): Show |
CYP4F12 | ENSG00000186204.15 | transcript | ENST00000550308.6 | protein_coding | 6/12 | chr19 | TogoVar | ||||||
CYP4F12_chr19_15668087_15702174 | 15683486 | T | C | splice_region_variant others(1): Show |
LOW | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0109 | 1 | 410 | 0.0024 | 0 | c.648 others(5): Show |
CYP4F12 | ENSG00000186204.15 | transcript | ENST00000550308.6 | protein_coding | 6/12 | chr19 | TogoVar | ||||||
CYP4F12_chr19_15668087_15702174 | 15684880 | G | C | missense_variant others(1): Show |
MODERATE | HG02257.hp2 HG02486.hp1 HG02615.hp1 others(6): Show |
a0005a0012a0014others(1): Show | a0005c0007a0012c0022a0014c0021others(1): Show | a0005c0007t0004a0012c0022t0007a0014c0021t0004others(1): Show | a0005c0007t0004g0207a0005c0007t0004g0208a0005c0007t0004g0209others(6): Show | 9 | 410 | 0.0220 | 0 | c.983 others(3): Show |
p.Gly others(6): Show |
CYP4F12 | ENSG00000186204.15 | transcript | ENST00000550308.6 | protein_coding | 8/13 | 1033/1714 | 983/1575 | 328/524 | chr19 | TogoVar | ||
CYP4F12_chr19_15668087_15702174 | 15684890 | T | C | splice_region_variant others(1): Show |
LOW | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 410 | 0.0024 | 0 | c.985 others(5): Show |
CYP4F12 | ENSG00000186204.15 | transcript | ENST00000550308.6 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
CYP4F12_chr19_15668087_15702174 | 15696910 | A | G | missense_variant others(1): Show |
MODERATE | HG03098.hp1 | a0018 | a0018c0012 | a0018c0012t0002 | a0018c0012t0002g0213 | 1 | 410 | 0.0024 | 0 | c.140 others(4): Show |
p.Asn others(6): Show |
CYP4F12 | ENSG00000186204.15 | transcript | ENST00000550308.6 | protein_coding | 13/13 | 1450/1714 | 1400/1575 | 467/524 | chr19 | TogoVar | ||
CYP4F12_chr19_15668087_15702174 | 15697174 | G | A | splice_region_variant | LOW | HG00639.hp1 HG00738.hp2 HG00741.hp2 others(68): Show |
a0001a0003a0005others(5): Show | a0001c0008a0003c0003a0005c0007others(5): Show | a0001c0008t0002a0003c0003t0002a0003c0003t0004others(7): Show | a0001c0008t0002g0083a0001c0008t0002g0086a0001c0008t0002g0111others(53): Show | 71 | 410 | 0.1732 | 0 | c.*89 others(3): Show |
CYP4F12 | ENSG00000186204.15 | transcript | ENST00000550308.6 | protein_coding | 13/13 | chr19 | TogoVar |