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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(914): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 236 | 0.0042 | 921 | c.342 others(942): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(914): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0014 | 1 | 236 | 0.0042 | 921 | c.342 others(942): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246613654 | T | TCCCCCTC others(914): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 320 | 0.0031 | 921 | c.380 others(938): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTGTAAC others(914): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01891.hp2 HG02723.hp1 others(2): Show |
a0001 | a0001c0002a0001c0004a0001c0005others(1): Show | a0001c0002t0015a0001c0004t0037a0001c0005t0047others(2): Show | a0001c0002t0015g0181a0001c0004t0037g0077a0001c0005t0047g0213others(2): Show | 5 | 230 | 0.0217 | 921 | c.724 others(940): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(914): Show |
intron_variant | MODIFIER | HG00673.hp1 HG03017.hp2 |
a0002 | a0002c0011a0002c0015 | a0002c0011t0017a0002c0015t0022 | a0002c0011t0017g0073a0002c0015t0022g0220 | 2 | 314 | 0.0064 | 921 | c.310 others(936): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591754 | A | ATGATGGT others(914): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 397 | 0.0025 | 921 | c.*50 others(932): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4047 | chr5 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATATT others(914): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 350 | 0.0029 | 921 | c.94- others(934): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(914): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 350 | 0.0029 | 921 | c.94- others(934): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152587 | C | CCACCACT others(914): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0211 | 1 | 274 | 0.0037 | 921 | c.804 others(938): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132359099 | C | CAGCGTAG others(914): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0006 | a0001c0006t0027 | a0001c0006t0027g0107 | 1 | 290 | 0.0035 | 921 | c.117 others(940): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(914): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0031 | a0031c0049 | a0031c0049t0001 | a0031c0049t0001g0104 | 1 | 280 | 0.0036 | 921 | c.641 others(936): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432640 | A | AAAGGGAG others(914): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0075 | 1 | 250 | 0.0040 | 921 | c.225 others(938): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189475 | A | ATATAAAA others(914): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0063 | 1 | 330 | 0.0030 | 921 | c.-5+ others(936): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79532188 | T | TCGGCAGA others(914): Show |
downstream_gene_variant | MODIFIER | HG01928.hp2 | a0003 | a0003c0016 | a0003c0016t0007 | a0003c0016t0007g0018 | 1 | 322 | 0.0031 | 921 | c.*46 others(932): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2866 | chr18 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535645 | T | TCCCAGGG others(914): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0024 | a0024c0049 | a0024c0049t0001 | a0024c0049t0001g0203 | 1 | 324 | 0.0031 | 921 | c.140 others(938): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841636 | C | CCCCCCGA others(914): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 242 | 0.0041 | 921 | c.361 others(940): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731952 | T | TGGGGAGG others(914): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0007 | a0007c0014 | a0007c0014t0003 | a0007c0014t0003g0021 | 1 | 282 | 0.0036 | 921 | c.299 others(936): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(914): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0296 | 1 | 308 | 0.0033 | 921 | c.371 others(938): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50397972 | C | CGGGGGGG others(914): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0337 | 1 | 340 | 0.0029 | 921 | c.227 others(938): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | chr22 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(914): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282 | 1 | 304 | 0.0033 | 921 | c.66+ others(936): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SLC25A26_chr3_66216001_66383923 | 66285499 | T | TCCCCATG others(914): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02132.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0002 | a0001c0001t0002g0256a0002c0003t0002g0130 | 2 | 298 | 0.0067 | 921 | c.453 others(940): Show |
SLC25A26 | ENSG00000144741.19 | transcript | ENST00000354883.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SLC25A26_chr3_66216001_66383923 | 66285499 | T | TCCCCATG others(914): Show |
intron_variant | MODIFIER | NA19030.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0022 | a0001c0001t0021g0116a0001c0001t0022g0091 | 2 | 298 | 0.0067 | 921 | c.453 others(940): Show |
SLC25A26 | ENSG00000144741.19 | transcript | ENST00000354883.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SLC31A1_chr9_113216544_113269492 | 113250305 | T | TAAGAAAA others(914): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0318 | 1 | 418 | 0.0024 | 921 | c.-35 others(938): Show |
SLC31A1 | ENSG00000136868.11 | transcript | ENST00000374212.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(914): Show |
downstream_gene_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 422 | 0.0024 | 921 | c.*64 others(932): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(914): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG02135.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0101a0001c0001t0001g0102others(1): Show | 4 | 258 | 0.0155 | 921 | c.113 others(940): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TM4SF19_chr3_196318547_196343388 | 196335086 | T | CGGGTGTA others(914): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 370 | 0.0027 | 921 | c.-2+ others(936): Show |
TM4SF19 | ENSG00000145107.16 | transcript | ENST00000273695.4 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(914): Show |
intron_variant | MODIFIER | HG03017.hp2 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0084 | a0001c0001t0020g0132a0001c0001t0084g0027 | 2 | 174 | 0.0115 | 921 | c.41- others(938): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
UCN3_chr10_5359966_5379692 | 5370163 | A | ATGTGTGT others(914): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0393 | 1 | 468 | 0.0021 | 921 | c.-6- others(936): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(914): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0122 | 1 | 468 | 0.0021 | 921 | c.-6- others(936): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(914): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0103 | 1 | 468 | 0.0021 | 921 | c.-6- others(936): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(914): Show |
intron_variant | MODIFIER | NA18947.hp1 NA18959.hp2 NA18967.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0002 | 5 | 468 | 0.0107 | 921 | c.-6- others(936): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(914): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0145 | 1 | 468 | 0.0021 | 921 | c.-6- others(936): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ABCB11_chr2_168915781_169036324 | 168975232 | T | TTTATATA others(915): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0105 | 1 | 306 | 0.0033 | 922 | c.130 others(941): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(915): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0006 | a0006c0037 | a0006c0037t0007 | a0006c0037t0007g0197 | 1 | 306 | 0.0033 | 922 | c.130 others(941): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668924 | A | AGGAAGTG others(915): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03041.hp1 HG06807.hp1 |
a0007a0018a0024 | a0007c0016a0018c0072a0024c0073 | a0007c0016t0006a0018c0072t0013a0024c0073t0017 | a0007c0016t0006g0057a0018c0072t0013g0056a0024c0073t0017g0055 | 3 | 360 | 0.0083 | 922 | c.170 others(943): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(915): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0132 | 1 | 248 | 0.0040 | 922 | c.387 others(941): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456223 | A | AGTATGTA others(915): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0104 | 1 | 182 | 0.0055 | 922 | c.505 others(941): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTCTA others(915): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0062 | 1 | 182 | 0.0055 | 922 | c.505 others(941): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113418971 | C | CTCTTTTC others(915): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0002 | a0002c0002 | a0002c0002t0073 | a0002c0002t0073g0137 | 1 | 262 | 0.0038 | 922 | c.106 others(941): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581249 | C | CATATACG others(915): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0154 | 1 | 169 | 0.0059 | 922 | c.48- others(939): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(915): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 334 | 0.0030 | 922 | c.147 others(939): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(915): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 298 | 0.0034 | 922 | c.955 others(939): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(915): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0016 | 1 | 300 | 0.0033 | 922 | c.-70 others(931): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331540 | A | AAGGGAAA others(915): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 326 | 0.0031 | 922 | c.327 others(939): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333024 | C | CGGATAAG others(915): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167a0001c0001t0001g0226 | 2 | 370 | 0.0054 | 922 | c.892 others(939): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
COL27A1_chr9_114150537_114317511 | 114278403 | T | TGGTGATA others(915): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03540.hp1 NA19030.hp2 |
a0001a0005 | a0001c0114a0001c0136a0005c0055 | a0001c0114t0006a0001c0136t0001a0005c0055t0003 | a0001c0114t0006g0077a0001c0136t0001g0189a0005c0055t0003g0038 | 3 | 308 | 0.0097 | 922 | c.371 others(941): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 37/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COMMD9_chr11_36267292_36294424 | 36287093 | A | ACTATGTA others(915): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 448 | 0.0022 | 922 | c.51+ others(937): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16981073 | C | CAACCACC others(915): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03471.hp1 |
a0100a0122 | a0100c0068a0122c0162 | a0100c0068t0002a0122c0162t0001 | a0100c0068t0002g0159a0122c0162t0001g0019 | 2 | 278 | 0.0072 | 922 | c.139 others(939): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 13/41 | chr19 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16981073 | C | CAACCACC others(915): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01884.hp2 HG01975.hp1 others(7): Show |
a0021a0023a0039others(7): Show | a0021c0143a0023c0075a0039c0076others(7): Show | a0021c0143t0001a0023c0075t0001a0039c0076t0001others(7): Show | a0021c0143t0001g0012a0023c0075t0001g0137a0039c0076t0001g0126others(7): Show | 10 | 278 | 0.0360 | 922 | c.139 others(939): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 13/41 | chr19 | TogoVar | ||||||
CRELD2_chr22_49913634_49932537 | 49926713 | C | CCCCACCC others(915): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 324 | 0.0031 | 922 | c.101 others(939): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |