view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LRRC27_chr10_132327193_132386508 | 132359099 | C | CAGCGTAG others(914): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0006 | a0001c0006t0027 | a0001c0006t0027g0115 | 1 | 244 | 0.0041 | 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 | a0027 | a0027c0048 | a0027c0048t0001 | a0027c0048t0001g0101 | 1 | 8 | 0.1250 | 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 | a0001c0002t0013g0074 | 1 | 64 | 0.0156 | 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 | a0001c0001t0017 | a0001c0001t0017g0058 | 1 | 263 | 0.0038 | 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 | 235 | 0.0043 | 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 | a0024c0049t0001g0204 | 1 | 124 | 0.0081 | 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 | 238 | 0.0042 | 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 | a0009 | a0009c0014 | a0009c0014t0003 | a0009c0014t0003g0026 | 1 | 267 | 0.0037 | 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 | 24 | 0.0417 | 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 | a0001c0002t0011 | a0001c0002t0011g0335 | 1 | 260 | 0.0038 | 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 | a0001c0001t0002g0283 | 1 | 174 | 0.0057 | 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 | a0001c0001t0002g0254 a0002c0003t0002g0129 |
2 | 164 | 0.0122 | 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 | a0001c0001t0021g0117 a0001c0001t0022g0092 |
2 | 164 | 0.0122 | 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 | a0001c0001t0005g0317 | 1 | 375 | 0.0027 | 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 | 80 | 0.0125 | 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 | a0001c0001t0001g0039 a0001c0001t0001g0101 a0001c0001t0001g0102 others(1): Show |
4 | 31 | 0.1290 | 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 | a0001c0001t0001g0160 | 1 | 368 | 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 | a0001c0001t0020a0001c0001t0081 | a0001c0001t0020g0132 a0001c0001t0081g0027 |
2 | 99 | 0.0202 | 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 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0352 | 1 | 393 | 0.0025 | 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 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0126 | 1 | 341 | 0.0029 | 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 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0112 | 1 | 341 | 0.0029 | 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 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0003 | 5 | 345 | 0.0145 | 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 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0141 | 1 | 341 | 0.0029 | 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 | a0001c0005t0001g0209 | 1 | 286 | 0.0035 | 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 | a0007 | a0007c0037 | a0007c0037t0007 | a0007c0037t0007g0189 | 1 | 153 | 0.0065 | 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 |
a0007a0019a0023 | a0007c0016a0019c0072a0023c0073 | a0007c0016t0006a0019c0072t0013a0023c0073t0017 | a0007c0016t0006g0059 a0019c0072t0013g0058 a0023c0073t0017g0057 |
3 | 295 | 0.0102 | 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 | 12 | 0.0833 | 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 | a0002c0002t0001g0064 | 1 | 159 | 0.0063 | 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 | a0001c0001t0002 | a0001c0001t0002g0173 | 1 | 30 | 0.0333 | 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 | a0002c0002t0069 | a0002c0002t0069g0132 | 1 | 204 | 0.0049 | 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 | a0001c0001t0012 | a0001c0001t0012g0154 | 1 | 112 | 0.0089 | 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 | 50 | 0.0200 | 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 | 76 | 0.0132 | 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 | 8 | 0.1250 | 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 | a0001c0001t0001g0250 | 1 | 219 | 0.0046 | 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 | a0001c0001t0001g0131 a0001c0001t0001g0175 |
2 | 360 | 0.0056 | 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 | a0001c0114t0006g0077 a0001c0136t0001g0189 a0005c0055t0003g0031 |
3 | 22 | 0.1364 | 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 | a0001c0001t0002g0012 | 1 | 353 | 0.0028 | 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 |
a0064a0095 | a0064c0068a0095c0162 | a0064c0068t0002a0095c0162t0001 | a0064c0068t0002g0159 a0095c0162t0001g0017 |
2 | 266 | 0.0075 | 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 |
a0018a0020a0037others(7): Show | a0018c0143a0020c0075a0037c0076others(7): Show | a0018c0143t0001a0020c0075t0001a0037c0076t0001others(7): Show | a0018c0143t0001g0012 a0020c0075t0001g0137 a0037c0076t0001g0126 others(7): Show |
10 | 274 | 0.0365 | 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 | a0001c0001t0001g0064 | 1 | 54 | 0.0185 | 922 | c.101 others(939): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14635300 | A | AGGGAGCT others(915): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0113 | 1 | 89 | 0.0112 | 922 | c.113 others(941): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 13/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14635300 | A | AGGGAGCT others(915): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00609.hp1 others(35): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0001g0047 others(35): Show |
38 | 126 | 0.3016 | 922 | c.113 others(941): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 13/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14635300 | A | AGGGAGCT others(915): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0029 | 1 | 89 | 0.0112 | 922 | c.113 others(941): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 13/25 | chr7 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137327999 | T | TAAAAACA others(915): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0030 | a0030c0026 | a0030c0026t0001 | a0030c0026t0001g0033 | 1 | 54 | 0.0185 | 922 | c.199 others(941): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586499 | C | CGGGGGGG others(915): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0262 | 1 | 271 | 0.0037 | 922 | c.157 others(939): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
GPIHBP1_chr8_143208218_143222170 | 143218345 | C | CCCAACAC others(915): Show |
downstream_gene_variant | MODIFIER | HG03471.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0003 | 1 | 12 | 0.0833 | 922 | c.*28 others(933): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1176 | chr8 | TogoVar | |||||||
GRAMD4_chr22_46615386_46684785 | 46635113 | A | AGCCACTC others(915): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0184 | 1 | 267 | 0.0037 | 922 | c.163 others(939): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KRTAP4-5_chr17_41143924_41154825 | 41144157 | T | TTTTCTTG others(915): Show |
downstream_gene_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 368 | 0.0027 | 922 | c.*50 others(933): Show |
KRTAP4-5 | ENSG00000198271.5 | transcript | ENST00000343246.6 | protein_coding | 4766 | chr17 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 129385145 | G | GGAAAAAG others(915): Show |
intron_variant | MODIFIER | HG02897.hp2 HG02970.hp1 HG03195.hp1 |
a0002a0013 | a0002c0003a0002c0026a0013c0028 | a0002c0003t0005a0002c0026t0002a0013c0028t0003 | a0002c0003t0005g0011 a0002c0026t0002g0018 a0013c0028t0003g0010 |
3 | 10 | 0.3000 | 922 | c.507 others(941): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 35/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |