From: Unravelling genetic variants of a swedish family with high risk of prostate cancer
Gene | Locationa | Ref/Alt | SNP-id | HGVS transcript | MMAFb | MAFc | CADDd | Position | Consequence |
---|---|---|---|---|---|---|---|---|---|
USH2A | chr1:216090029 | T/C | Na | NM_206933.2: c.7301-15782 A > G | 4.53E-04 | 0 | 13.45 | Transcript | Intronic |
ESRRG | chr1:217149814 | T/C | Na | NM_001350122.1: c.-284-36799 A > G | 9.07E-04 | 0.0025 | 14.77 | Transcript | Intronic |
RAB3GAP2 | chr1:220332126 | C/A | Na | NM_012414.3: c.3261 + 602G > T | 0 | 0 | 10.16 | Transcript | Intronic |
OBSCN | chr1:228395681 | T/G | Na | NR_073154.1: n.709-1330 A > C | 0.007435 | 0.004004 | 11.34 | Transcript | Upstream |
UBE2E1 | chr3:23847362 | A/T | Na | NR_046652.1: n.87 + 948T > A | 0 | 0 | 15.69 | Intergenic | Upstream |
GBE1 | chr3:81534434 | C/A | rs139860257 | NC_000003.11: g.81,534,434 C > A | 0.001879 | 0.0075 | 17.48 | Transcript | Downstream |
DLG1 | chr3:196990566 | G/C | rs111626925 | NM_001204386.1: c.318 + 18,984 C > G | 1.15E-04 | 0 | 11.97 | Transcript | Intronic |
PPARGC1A | chr4:23981292 | C/CG | Na | NM_001330751.1: c.70-94739dup | 0.001881 | 0.002 | 16.87 | Transcript | Intronic |
SGCB | chr4:52895932 | G/A | rs150518260 | NM_000232.4: c.341 C > T | 2.6E-04 | 5.00E-04 | 28 | Coding Transcript | Non-synonymous |
LRBA | chr4:151631987 | C/T | Na | NM_001199282.2: c.5754 + 24423G > A | 0.001621 | 5.00E-04 | 12.08 | Transcript | Intronic |
FBXW7 | chr4:153359554 | G/A | Na | NM_001257069. 1:c.-119-25873 C > T | 0.001179 | 5.00E-04 | 10.92 | Transcript | Intronic |
TLL1 | chr4:166827816 | A/T | rs72695713 | NM_001204760.1: c.169 + 32,591 A > T | 0.005513 | 0.0075 | 11.69 | Transcript | Intronic |
NEK1 | chr4:170464385 | T/C | Na | NM_001199397.1: c.1563-5323 A > G | 0.001750 | 0.001 | 11.43 | Transcript | Intronic |
IRF4 | chr6:393175 | G/A | rs139884486 | NM_001195286.1: c.23G > A | 3.9E-04 | 0.001 | 23.1 | Coding Transcript | Non-synonymous |
CYP7B1 | chr8:65518926 | G/T | rs185336165 | NM_001324112.1: c.1058-1512 C > A | 0.003953 | 0.009 | 12.35 | Transcript | Intronic |
CSPP1 | chr8:68106087 | T/G | Na | NM_001291339.1: c.2419 + 250T > G | 0.001231 | 5.00E-04 | 10.44 | Transcript | Intronic |
NCOA2 | chr8:71094518 | A/G | rs182681059 | NM_006540.3: c.260-7424T > C | 6.48E-05 | 0 | 15.78 | Transcript | Intronic |
KCNK9 | chr8:140695084 | G/C | Na | NM_001282534.1: c.283 + 19,869 C > G | 0 | 0 | 10.25 | Transcript | Intronic |
NFIB | chr9:14190548 | G/A | Na | NM_001190738.1: c.641-10769 C > T | 0 | 0 | 17.98 | Transcript | Intronic |
NFIB | chr9:14236935 | C/T | Na | NM_001190738.1: c.641-57156G > A | 0 | 0 | 19.88 | Transcript | Intronic |
NFIB | chr9:14242536 | G/A | Na | NM_001190737.1: c.563-62757 C > T | 0.004408 | 0.002 | 18.8 | Transcript | Intronic |
NFIB | chr9:14302801 | G/A | Na | NM_001190738.1: c.640 + 4187 C > T | 1.29E-04 | 0.002 | 17.56 | Transcript | Intronic |
HPSE2 | chr10:100787305 | A/G | Na | NM_001166244.1: c.610 + 116690T > C | 0.006031 | 0.0035 | 11.3 | Transcript | Intronic |
OPCML | chr11:132891613 | G/C | rs5029236 | NM_001012393.1: c.62-78708 C > G | 6.04E-04 | 0 | 18.19 | Transcript | Intronic |
FGD4 | chr12:32798780 | T/G | Na | NM_001304480.1: c.*5313T > G | 0 | 0 | 11.59 | Transcript | 3prime-UTR |
ANO6 | chr12:45663112 | T/C | Na | NM_001204803.1: c.71-1133T > C | 0 | 0 | 17.42 | Transcript | Intronic |
FREM2 | chr13:39384076 | T/C | Na | NM_207361.4: c.6019 + 25131T > C | 0 | 0 | 10.96 | Transcript | Intronic |
DIAPH3 | chr13:60308696 | C/A | rs118098467 | NM_001042517.1: c.3319 + 39627G > T | 0.001880 | 0.0045 | 17.56 | Transcript | Intronic |
DNAJC3 | chr13:96328151 | A/G | rs17884852 | NR_132117.1: n.1029T > C | 0.002852 | 0.003 | 10.43 | Transcript | Upstream |
CLYBL | chr13:100285053 | A/G | Na | NM_206808.3: c.62 + 26,042 A > G | 0 | 0 | 10.62 | Transcript | Intronic |
ETV4 | chr17:41632099 | G/C | Na | NC_000017.10: g.41632099G > C | 0 | 0 | 13.68 | Transcript | Intronic |
GOSR2 | chr17:45028738 | C/G | rs190194114 | NM_001321133.1: c.583 + 12,668 C > G | 0.002205 | 0.004 | 15.59 | Transcript | Intronic |
HOXB3 | chr17:46669864 | A/AGGGAGGGGGCACTGGGT | Na | NM_002147.3: c.563 − 63_563-47dup | 0.001217 | 0 | 16.21 | Transcript | Upstream |
CA4 | chr17:58228301 | T/G | Na | NM_000717.3: c.58 + 848T > G | 0.001562 | 0 | 10.22 | Transcript | Intronic |
SOCS6 | chr18:67956480 | C/T | Na | NM_004232.3: c.-127 + 154 C > T | 0.002323 | 0.0035 | 12.83 | Transcript | Intronic |
STK35 | chr20:2129173 | G/T | Na | NM_080836.3: c.*4781G > T | 0 | 0 | 14.3 | Transcript | 3prime-UTR |
KCNJ6 | chr21:39075146 | A/G | Na | NM_002240.3: c.946 + 11368T > C | 0.003114 | 0.005 | 10.96 | Transcript | Intronic |
PPARA | chr22:46601451 | A/T | rs4823477 | NM_001001928.3: c.208 + 6963 A > T | 0 | 0 | 11.53 | Transcript | Intronic |