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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NDUFA12_chr12_94966333_95008697 | 94979557 | GAGGTGGC others(6247): Show |
G | intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 | 1 | 440 | 0.0023 | -6254 | c.257 others(17): Show |
NDUFA12 | ENSG00000184752.14 | transcript | ENST00000327772.7 | protein_coding | 3/3 | chr12 | TogoVar | |||||||
NBEA_chr13_34937270_35677736 | 34984493 | GTTCTTTT others(6235): Show |
G | intron_variant | MODIFIER | HG02735.hp2 HG04184.hp1 HG04204.hp2 |
a0001 | a0001c0003 | a0001c0003t0008a0001c0003t0018 | a0001c0003t0008g0007 a0001c0003t0008g0008 a0001c0003t0018g0006 |
3 | 112 | 0.0268 | -6242 | c.294 others(19): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 1/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ACBD3_chr1_226139679_226191741 | 226174609 | GCAAAAAT others(6227): Show |
G | intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0066 | 1 | 394 | 0.0025 | -6234 | c.286 others(17): Show |
ACBD3 | ENSG00000182827.9 | transcript | ENST00000366812.6 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
SMIM35_chr11_117998634_118091963 | 118054498 | GTTATAAA others(6226): Show |
G | intron_variant | MODIFIER | NA19080.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0374 | 1 | 406 | 0.0025 | -6233 | c.7+2 others(15): Show |
SMIM35 | ENSG00000255274.10 | transcript | ENST00000689828.1 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
HSD17B1_chr17_42547923_42560214 | 42549608 | TCCGGCCC others(6220): Show |
T | transcript_ablation | HIGH | HG03453.hp1 | a0004 | a0004c0000 | a0004c0000t0000 | a0004c0000t0000g0000 | 1 | 419 | 0.0024 | -6227 | c.-33 others(10): Show |
p.0? | HSD17B1 | ENSG00000108786.11 | transcript | ENST00000585807.6 | protein_coding | 6/6 | chr17 | TogoVar | ||||||
PEX26_chr22_18072990_18110396 | 18102978 | AGGAGGCT others(6210): Show |
A | splice_region_variant | LOW | HG01167.hp1 HG01169.hp2 HG03516.hp2 |
a0002 | a0002c0002 | a0002c0002t0020 | a0002c0002t0020g0044 a0002c0002t0020g0143 |
3 | 396 | 0.0076 | -6217 | c.*14 others(13): Show |
PEX26 | ENSG00000215193.14 | transcript | ENST00000399744.8 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
WDPCP_chr2_63114559_63593477 | 63128987 | GAATTTGA others(6209): Show |
G | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 214 | 0.0047 | -6216 | c.219 others(20): Show |
WDPCP | ENSG00000143951.16 | transcript | ENST00000272321.12 | protein_coding | 17/17 | chr2 | TogoVar | |||||||
OR51A4_chr11_4937831_4952605 | 4946398 | GCTCCTTT others(6200): Show |
G | exon_loss_variant | HIGH | HG00140.hp1 HG00735.hp2 HG01069.hp1 others(16): Show |
a0003 | a0003c0003 | a0003c0003t0006a0003c0003t0014 | a0003c0003t0006g0006 a0003c0003t0014g0013 |
19 | 436 | 0.0436 | -6207 | c.-51 others(9): Show |
OR51A4 | ENSG00000205497.5 | transcript | ENST00000641898.1 | protein_coding | 1/2 | 825/4393 | chr11 | TogoVar | ||||||
RFFL_chr17_35000990_35068707 | 35027950 | TTGAACTC others(6192): Show |
T | intron_variant | MODIFIER | HG02818.hp2 HG03195.hp2 |
a0001 | a0001c0004 | a0001c0004t0032 | a0001c0004t0032g0094 a0001c0004t0032g0180 |
2 | 369 | 0.0054 | -6199 | c.-8- others(15): Show |
RFFL | ENSG00000092871.17 | transcript | ENST00000394597.7 | protein_coding | 1/6 | chr17 | TogoVar | |||||||
CRK_chr17_1415693_1461232 | 1430051 | TTTTTTTT others(6182): Show |
T | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0231 | 1 | 402 | 0.0025 | -6189 | c.777 others(16): Show |
CRK | ENSG00000167193.8 | transcript | ENST00000300574.3 | protein_coding | 2/2 | chr17 | TogoVar | |||||||
SMG1_chr16_18799860_18931408 | 18911564 | TCCACTAA others(6159): Show |
T | intron_variant | MODIFIER | NA18612.hp2 NA18952.hp1 NA18955.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019a0001c0001t0020others(1): Show | a0001c0001t0001g0041 a0001c0001t0001g0104 a0001c0001t0001g0124 others(7): Show |
10 | 298 | 0.0336 | -6166 | c.92+ others(16): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 1/62 | chr16 | TogoVar | |||||||
HS6ST3_chr13_96085107_96844562 | 96267537 | CTTTGTGT others(6155): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 116 | 0.0086 | -6162 | c.707 others(21): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MEI4_chr6_77648039_77932045 | 77730801 | CAGAGTGT others(6155): Show |
C | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0218 | 1 | 358 | 0.0028 | -6162 | c.233 others(19): Show |
MEI4 | ENSG00000269964.4 | transcript | ENST00000684080.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TNN_chr1_175062833_175153075 | 175101812 | ACCAGAGC others(6151): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(87): Show |
a0003a0009a0010others(15): Show | a0003c0002a0003c0015a0003c0047others(20): Show | a0003c0002t0001a0003c0002t0012a0003c0015t0001others(23): Show | a0003c0002t0001g0266 a0003c0002t0001g0270 a0003c0002t0001g0278 others(86): Show |
90 | 369 | 0.2439 | -6158 | c.211 others(19): Show |
TNN | ENSG00000120332.17 | transcript | ENST00000239462.9 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SUPT3H_chr6_44821726_45382934 | 45144596 | GACAAGGA others(6150): Show |
G | intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 262 | 0.0038 | -6157 | c.102 others(19): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
LATS1_chr6_149653153_149723101 | 149668117 | ACATGTTG others(6149): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 270 | 0.0037 | -6156 | c.288 others(19): Show |
LATS1 | ENSG00000131023.13 | transcript | ENST00000543571.6 | protein_coding | 7/7 | chr6 | TogoVar | |||||||
DEFA1B_chr8_6991766_7004198 | 6998056 | CACTTTTT others(6135): Show |
C | splice_donor_variant others(4): Show |
HIGH | HG02258.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 224 | 0.0089 | -6142 | c.-50 others(13): Show |
DEFA1B | ENSG00000240247.8 | transcript | ENST00000382689.8 | protein_coding | 1/3 | chr8 | TogoVar | |||||||
ZNF718_chr4_119501_169162 | 127124 | GAAAATTT others(6135): Show |
G | exon_loss_variant | HIGH | HG00099.hp1 HG00558.hp1 HG00558.hp2 others(158): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(113): Show |
161 | 328 | 0.4909 | -6142 | c.3+2 others(15): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PRDM7_chr16_90051566_90082331 | 90064602 | CGGGGTTT others(6131): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG00099.hp2 HG02145.hp2 HG02280.hp2 others(6): Show |
a0006 | a0006c0006a0006c0010 | a0006c0006t0003a0006c0006t0011a0006c0006t0022others(1): Show | a0006c0006t0003g0082 a0006c0006t0003g0084 a0006c0006t0003g0130 others(5): Show |
9 | 390 | 0.0231 | -6138 | c.302 others(16): Show |
PRDM7 | ENSG00000126856.16 | transcript | ENST00000449207.8 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 72819088 | GTCCCAAC others(6126): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG02523.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0061 a0001c0001t0004g0160 |
2 | 178 | 0.0112 | -6133 | c.601 others(19): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
FBXL7_chr5_15495180_15944793 | 15906424 | TGACCTAG others(6122): Show |
T | intron_variant | MODIFIER | HG02809.hp2 HG02886.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0003g0111 a0001c0001t0005g0096 a0001c0001t0008g0099 others(1): Show |
4 | 122 | 0.0328 | -6129 | c.128 others(19): Show |
FBXL7 | ENSG00000183580.10 | transcript | ENST00000504595.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CCSER1_chr4_90122394_91610295 | 90675634 | TGTGTTTT others(6116): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01192.hp1 HG01192.hp2 others(31): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0016 others(31): Show |
34 | 38 | 0.8947 | -6123 | c.193 others(21): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ZNF34_chr8_144767224_144792317 | 144779689 | GGCCTCCC others(6108): Show |
G | splice_acceptor_variant others(5): Show |
HIGH | NA18967.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0059 | 1 | 412 | 0.0024 | -6115 | c.-10 others(17): Show |
ZNF34 | ENSG00000196378.13 | transcript | ENST00000429371.7 | protein_coding | 2/6 | chr8 | TogoVar | |||||||
KPNA7_chr7_99168572_99213115 | 99194181 | GTCACTGG others(6105): Show |
G | exon_loss_variant | HIGH | NA18940.hp2 | a0007 | a0007c0013 | a0007c0013t0001 | a0007c0013t0001g0204 | 1 | 332 | 0.0030 | -6112 | c.201 others(16): Show |
KPNA7 | ENSG00000185467.8 | transcript | ENST00000327442.7 | protein_coding | 5/11 | chr7 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21159363 | TAGAAAAT others(6104): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG01106.hp2 HG01123.hp1 others(60): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0013 others(60): Show |
63 | 80 | 0.7875 | -6111 | c.62- others(19): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
PRR20A_chr13_57135918_57148939 | 57140192 | GCCACCCC others(6103): Show |
G | transcript_ablation | HIGH | HG03704.hp1 | a0005 | a0005c0000 | a0005c0000t0000 | a0005c0000t0000g0000 | 1 | 316 | 0.0032 | -6110 | c.-95 others(10): Show |
p.0? | PRR20A | ENSG00000204919.1 | transcript | ENST00000377931.1 | protein_coding | 3/3 | chr13 | TogoVar | ||||||
ZNF253_chr19_19860882_19899674 | 19867868 | TTGACTTT others(6100): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0271 | 1 | 368 | 0.0027 | -6107 | c.3+1 others(13): Show |
ZNF253 | ENSG00000256771.5 | transcript | ENST00000589717.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CSTPP1_chr11_46931761_47167247 | 47036037 | ATATATAT others(6096): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00597.hp2 others(44): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0089 others(44): Show |
47 | 140 | 0.3357 | -6103 | c.150 others(19): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 2/8 | chr11 | TogoVar | |||||||
LEPR_chr1_65415668_65646559 | 65558490 | TGTTTCTT others(6087): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(52): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0008a0003c0004others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0030others(21): Show | a0001c0001t0002g0139 a0001c0001t0003g0012 a0001c0001t0003g0074 others(52): Show |
55 | 214 | 0.2570 | -6094 | c.-20 others(16): Show |
LEPR | ENSG00000116678.20 | transcript | ENST00000349533.11 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLPPR1_chr9_101023727_101330135 | 101102084 | TAGGAACA others(6085): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(2): Show | a0001c0001t0001g0019 a0001c0001t0002g0018 a0001c0001t0002g0200 others(3): Show |
6 | 202 | 0.0297 | -6092 | c.-46 others(19): Show |
PLPPR1 | ENSG00000148123.15 | transcript | ENST00000374874.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CD38_chr4_15773328_15858232 | 15841532 | TAAAAGCA others(6080): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG02922.hp2 HG02970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0019a0001c0001t0060others(3): Show | a0001c0001t0017g0058 a0001c0001t0019g0159 a0001c0001t0060g0055 others(3): Show |
6 | 342 | 0.0175 | -6087 | c.839 others(16): Show |
CD38 | ENSG00000004468.13 | transcript | ENST00000226279.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FER1L6_chr8_123846987_124125061 | 123859925 | GCCACATT others(6075): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG02615.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0002a0001c0002t0003a0001c0005t0003others(5): Show | a0001c0001t0002g0050 a0001c0002t0003g0023 a0001c0002t0003g0024 others(6): Show |
9 | 194 | 0.0464 | -6082 | c.-8+ others(16): Show |
FER1L6 | ENSG00000214814.7 | transcript | ENST00000522917.5 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PLEKHH2_chr2_43632260_43772987 | 43660421 | AAACATAT others(6072): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp2 HG02622.hp1 others(4): Show |
a0001a0003a0005others(2): Show | a0001c0007a0001c0009a0003c0004others(3): Show | a0001c0007t0001a0001c0009t0002a0003c0004t0002others(3): Show | a0001c0007t0001g0191 a0001c0009t0002g0106 a0003c0004t0002g0100 others(4): Show |
7 | 254 | 0.0276 | -6079 | c.123 others(19): Show |
PLEKHH2 | ENSG00000152527.14 | transcript | ENST00000282406.9 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 70010327 | TCAAAACA others(6068): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00642.hp2 others(39): Show |
a0002a0006a0012 | a0002c0003a0002c0004a0002c0006others(4): Show | a0002c0003t0002a0002c0003t0008a0002c0003t0012others(16): Show | a0002c0003t0002g0018 a0002c0003t0002g0020 a0002c0003t0002g0026 others(39): Show |
42 | 180 | 0.2333 | -6075 | c.102 others(20): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FRAS1_chr4_78052323_78549269 | 78347966 | CAAAGCTT others(6068): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(140): Show |
a0001a0002a0003others(87): Show | a0001c0001a0001c0013a0002c0003others(102): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(117): Show | a0001c0001t0001g0086 a0001c0001t0002g0072 a0001c0001t0002g0075 others(140): Show |
143 | 176 | 0.8125 | -6075 | c.242 others(20): Show |
FRAS1 | ENSG00000138759.20 | transcript | ENST00000512123.4 | protein_coding | 20/73 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RIPOR2_chr6_24799284_24940960 | 24811647 | TCGTTTAG others(6068): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(232): Show |
a0001a0002a0005others(11): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(47): Show | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0024 others(232): Show |
235 | 326 | 0.7209 | -6075 | c.295 others(18): Show |
RIPOR2 | ENSG00000111913.20 | transcript | ENST00000643898.2 | protein_coding | 20/21 | chr6 | TogoVar | |||||||
CDH13_chr16_82621969_83805640 | 83637234 | GAAAAATT others(6066): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00642.hp1 others(25): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(19): Show | a0001c0001t0001g0055 a0001c0001t0002g0017 a0001c0001t0002g0020 others(25): Show |
28 | 110 | 0.2545 | -6073 | c.110 others(21): Show |
CDH13 | ENSG00000140945.17 | transcript | ENST00000567109.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RASEF_chr9_82974590_83068142 | 83049519 | TTCTGCCT others(6066): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG03130.hp1 HG03471.hp1 others(1): Show |
a0004a0006 | a0004c0006a0006c0005 | a0004c0006t0036a0004c0006t0037a0006c0005t0019 | a0004c0006t0036g0324 a0004c0006t0037g0323 a0006c0005t0019g0321 others(1): Show |
4 | 332 | 0.0120 | -6073 | c.431 others(18): Show |
RASEF | ENSG00000165105.10 | transcript | ENST00000376447.4 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
KANK1_chr9_499695_751103 | 642168 | GATGCTGG others(6064): Show |
G | intron_variant | MODIFIER | HG01175.hp1 HG01361.hp1 HG01884.hp1 others(8): Show |
a0001a0007a0008others(1): Show | a0001c0054a0007c0014a0007c0028others(2): Show | a0001c0054t0008a0007c0014t0001a0007c0028t0001others(2): Show | a0001c0054t0008g0077 a0007c0014t0001g0073 a0007c0028t0001g0074 others(8): Show |
11 | 252 | 0.0437 | -6071 | c.-83 others(19): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
UPK3B_chr7_76505552_76521522 | 76515455 | GGATACCC others(6060): Show |
G | splice_region_variant | LOW | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0002 | 1 | 338 | 0.0030 | -6067 | c.*25 others(10): Show |
UPK3B | ENSG00000243566.7 | transcript | ENST00000334348.8 | protein_coding | 6/6 | chr7 | TogoVar | |||||||
ZNF385D_chr3_21407218_21756210 | 21533176 | CTGCAGCT others(6060): Show |
C | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0165 | 1 | 254 | 0.0039 | -6067 | c.276 others(19): Show |
ZNF385D | ENSG00000151789.13 | transcript | ENST00000281523.8 | protein_coding | 3/7 | chr3 | TogoVar | |||||||
CNTLN_chr9_17130040_17508923 | 17257438 | GGTGTGCA others(6059): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp1 HG02895.hp1 others(2): Show |
a0011a0013 | a0011c0015a0013c0019 | a0011c0015t0002a0013c0019t0002 | a0011c0015t0002g0213 a0011c0015t0002g0214 a0011c0015t0002g0215 others(2): Show |
5 | 216 | 0.0231 | -6066 | c.850 others(19): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 5/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7465078 | TGAAAAGA others(6059): Show |
T | intron_variant | MODIFIER | NA18612.hp2 | a0034 | a0034c0042 | a0034c0042t0001 | a0034c0042t0001g0089 | 1 | 194 | 0.0052 | -6066 | c.130 others(19): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 15/34 | chr7 | TogoVar | |||||||
NOD1_chr7_30419527_30483784 | 30439232 | CAAAAGAA others(6059): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01884.hp1 others(15): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0003t0004a0001c0003t0014 | a0001c0001t0007g0033 a0001c0001t0007g0035 a0001c0001t0007g0036 others(14): Show |
18 | 356 | 0.0506 | -6066 | c.245 others(18): Show |
NOD1 | ENSG00000106100.11 | transcript | ENST00000222823.9 | protein_coding | 9/13 | chr7 | TogoVar | |||||||
UPK3B_chr7_76505552_76521522 | 76515456 | GATACCCA others(6059): Show |
G | splice_region_variant | LOW | HG00099.hp1 HG00280.hp1 HG00423.hp2 others(186): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0003a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(53): Show |
189 | 338 | 0.5592 | -6066 | c.*25 others(10): Show |
UPK3B | ENSG00000243566.7 | transcript | ENST00000334348.8 | protein_coding | 6/6 | chr7 | TogoVar | |||||||
DEUP1_chr11_93325742_93443470 | 93420970 | TGAAAATG others(6054): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(313): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0012a0001c0014others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0046 others(291): Show |
316 | 366 | 0.8634 | -6061 | c.163 others(20): Show |
DEUP1 | ENSG00000165325.15 | transcript | ENST00000298050.9 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 14929436 | TGTTGTTA others(6054): Show |
T | intron_variant | MODIFIER | HG02922.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0058a0001c0001t0087 | a0001c0001t0058g0097 a0001c0001t0087g0088 |
2 | 102 | 0.0196 | -6061 | c.39+ others(19): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 128998370 | CAGAAGTA others(6052): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(41): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0011a0002c0003others(34): Show | a0001c0001t0001a0001c0011t0002a0002c0003t0003others(36): Show | a0001c0001t0001g0052 a0001c0011t0002g0003 a0002c0003t0003g0038 others(41): Show |
44 | 86 | 0.5116 | -6059 | c.113 others(19): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 1/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ATAT1_chr6_30621874_30651821 | 30636323 | ACCTGTAA others(6051): Show |
A | exon_loss_variant | HIGH | NA20129.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0131 | 1 | 404 | 0.0025 | -6058 | c.538 others(16): Show |
ATAT1 | ENSG00000137343.18 | transcript | ENST00000376485.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNB2_chr8_72532225_72943349 | 72875530 | TTGCAAAT others(6051): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(139): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(139): Show |
142 | 164 | 0.8659 | -6058 | c.580 others(19): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |