pmid code val_code disease wtaa mtaa pos genes type fasta_check gi gene_name prot_id snp_check_check rs_pgkb_check rs_ncbi_check omim_check class 18372405 8 1 BREAST NEOPLASMS ALA ASP 111 HSD17B2 PROTEIN YES 3294 HSD17B2 4504503|YES 18558293 3 1 "MULTIPLE HAMARTOMA SYNDROME, BREAST NEOPLASMS, THYROID NEOPLASMS, LYMPHOMA" ALA PRO 39 PTEN PROTEIN YES 5728 PTEN 73765544|YES 16280053 7 1 BREAST NEOPLASMS PRO ALA 47 BACH1 PROTEIN YES 571 BACH1 59559717|REV;4502353|REV;45827690|REV 17531442 3 1 BREAST NEOPLASMS SER ALA 1143 BRCA1 PROTEIN YES 672 BRCA1 237681121|PLUS;6552299|YES;6552303|YES;6552311|YES;6552301|YES 17531442 3 1 BREAST NEOPLASMS SER ALA 1280 BRCA1 PROTEIN YES 672 BRCA1 237681121|PLUS;6552299|YES;6552315|YES;6552303|YES;6552311|YES;6552301|YES 15665273 8 1 BREAST NEOPLASMS SER ALA 148 BARD1 PROTEIN NO 15665273 8 1 BREAST NEOPLASMS SER ALA 251 BARD1 PROTEIN NO 15665273 8 1 BREAST NEOPLASMS SER ALA 288 BARD1 PROTEIN NO 9806478 5 1 MELANOMA ALA THR 148 CDKN2A PROTEIN YES 1029 CDKN2A 17738294|PLUS;4502749|YES POLYMORPHISM(1029ALA148THR) 15235021 3 1 "STOMACH NEOPLASMS, BREAST NEOPLASMS" A T 298 CDH1 PROTEIN YES 999 CDH1 4757960|YES|PLUS 15665273 8 1 BREAST NEOPLASMS T A 299 BARD1 PROTEIN NO 12100746 8 1 BREAST NEOPLASMS A T 49 SRD5A2 PROTEIN YES 6716 SRD5A2 39812447|YES 18036263 8 1 BREAST NEOPLASMS ALA VAL 1708 BRCA1 PROTEIN YES 672 BRCA1 6552299|YES;6552303|YES;6552301|YES 18083510 3 1 BREAST NEOPLASMS ALA VAL 238 HSD17B1 PROTEIN YES 3292 HSD17B1 223718074|YES POLYMORPHISM(3292ALA238VAL) 16652348 3 1 BREAST NEOPLASMS C G 146 ATM DNA YES 472 ATM 20336199|YES|PLUS 17550384 3 1 "BREAST CARCINOMA, COLORECTAL NEOPLASMS, NON-SMALL-CELL LUNG CARCINOMA, GASTRIC CARCINOMA" ARG CYS 389 BECN1 PROTEIN YES 8678 BECN1 4502395|YES 16061562 3 1 "BREAST NEOPLASMS, OVARIAN NEOPLASMS" CYS ARG 645 BARD1 PROTEIN NO "RS34744268(BARD1,CYS,ARG,645)" 16061562 5 1 OVARIAN NEOPLASMS CYS SER 557 BARD1 PROTEIN NO "RS28997576(BARD1,CYS,SER,557)" "601593(BARD1,CYS,SER,557)" 15059511 8 1 BREAST NEOPLASMS C T 1196 BRCA1 DNA YES 672 BRCA1 6552299|REV;6552303|REV;6552311|REV;6552301|REV 12649339 3 1 BREAST NEOPLASMS C T 1806 BRCA1 DNA YES 672 BRCA1 6552315|YES 15101044 3 2 BREAST NEOPLASMS T C 2572 ATM DNA YES 472 ATM 71902540|PLUS 16760288 3 1 "BREAST NEOPLASMS, OVARIAN NEOPLASMS" TYR CYS 179 BRCA1 PROTEIN YES 672 BRCA1 237681121|REV;6552299|YES;6552315|YES;6552303|YES;237681125|YES;6552317|YES;237681123|YES;6552321|YES;6552311|YES;6552301|YES "RS56187033(BRCA1,TYR,CYS,179)" POLYMORPHISM(672TYR179CYS) 11894125 3 2 HIS ASP 58 FRAT1 PROTEIN YES 10023 FRAT1 31317236|YES 17517479 3 1 BREAST NEOPLASMS ASN ASP 1853 ATM PROTEIN YES 472 ATM 71902540|REV "RS1801516(ATM,ASN,ASP,1853)" 12668615 7 1 BREAST NEOPLASMS ASP ASN 213 XRCC3 PROTEIN YES 7517 XRCC3 4885659|YES;153946427|YES;153946430|YES 15059511 3 1 BREAST NEOPLASMS ASN ASP 991 BRCA2 PROTEIN YES 675 BRCA2 119395734|YES "RS1799944(BRCA2,ASN,ASP,991)" POLYMORPHISM(675ASN991ASP) 15870154 3 1 BREAST NEOPLASMS THR ASP 461 CYP1A1 PROTEIN YES 1543 CYP1A1 4503199|YES 15170666 3 1 BREAST NEOPLASMS GLU GLY 233 RAD51D PROTEIN YES 5892 RAD51D 217416415|YES POLYMORPHISM(5892GLU233GLY) 16123141 3 1 BREAST NEOPLASMS THR GLU 135 RNF11 PROTEIN YES 26994 RNF11 7657520|YES 18431743 5 1 OVARIAN NEOPLASMS PHE ILE 31 AURKA PROTEIN YES 6790 AURKA 38327564|YES;38327568|YES;38327572|YES;38327562|YES;38327570|YES;38327566|YES "RS2273535(AURKA,PHE,ILE,31)" POLYMORPHISM(6790PHE31ILE) 12810666 8 1 "BREAST NEOPLASMS, OVARIAN NEOPLASMS" LEU PHE 1420 ATM PROTEIN YES 472 ATM 71902540|YES "RS1800058(ATM,LEU,PHE,1420)" POLYMORPHISM(472LEU1420PHE) 16760288 3 1 "BREAST NEOPLASMS, OVARIAN NEOPLASMS" PHE LEU 486 BRCA1 PROTEIN YES 672 BRCA1 6552299|YES;6552303|YES;6552311|YES;6552301|YES "RS55906931(BRCA1,PHE,LEU,486)" POLYMORPHISM(672PHE486LEU) 18241035 3 1 BREAST NEOPLASMS LEU PHE 792 ADAM12 PROTEIN NO 16652348 6 1 BREAST NEOPLASMS PHE LEU 858 ATM PROTEIN YES 472 ATM 71902540|YES "RS1800056(ATM,PHE,LEU,858)" POLYMORPHISM(472PHE858LEU) 16168123 7 1 BREAST NEOPLASMS SER PHE 384 BRCA2 PROTEIN YES 675 BRCA2 119395734|YES "RS41293475(BRCA2,SER,PHE,384)" POLYMORPHISM(675SER384PHE) 18372405 8 1 BREAST NEOPLASMS GLY ARG 160 HSD17B2 PROTEIN YES 3294 HSD17B2 4504503|YES 18036263 3 1 BREAST NEOPLASMS GLY ARG 1738 BRCA1 PROTEIN YES 672 BRCA1 6552299|YES;6552303|YES;6552301|YES 12645254 7 1 "BREAST NEOPLASMS, OVARIAN NEOPLASMS" SER GLY 1613 BRCA1 PROTEIN YES 672 BRCA1 6552299|YES;6552315|PLUS;6552303|YES;6552301|YES "RS1799966(BRCA1,SER,GLY,1613)" POLYMORPHISM(672SER1613GLY) 15217503 7 1 "BREAST NEOPLASMS, OVARIAN NEOPLASMS, PANCREATIC NEOPLASMS, STOMACH NEOPLASMS, COLORECTAL NEOPLASMS" GLY SER 211 EP300 PROTEIN YES 2033 EP300 50345997|YES 10534763 8 1 BREAST NEOPLASMS GLY SER 2765 ATM PROTEIN YES 472 ATM 71902540|YES UNCLASSIFIED(472GLY2765SER) 18083510 3 1 BREAST NEOPLASMS SER GLY 313 HSD17B1 PROTEIN YES 3292 HSD17B1 223718074|REV "RS605059(HSD17B1,SER,GLY,313)" POLYMORPHISM(3292SER313GLY) 17443496 7 1 BREAST NEOPLASMS G T 128 CDKN1A PROTEIN YES 1026 CDKN1A 11386203|PLUS;17978495|PLUS 16563154 7 1 BREAST NEOPLASMS T G 309 MDM2 DNA YES 4193 MDM2 223890201|REV 15059511 3 1 BREAST NEOPLASMS ASN HIS 289 BRCA2 PROTEIN YES 675 BRCA2 119395734|YES "RS766173(BRCA2,ASN,HIS,289)" POLYMORPHISM(675ASN289HIS) 15059511 3 1 BREAST NEOPLASMS ASN HIS 371 BRCA2 PROTEIN YES 675 BRCA2 119395734|PLUS 18431743 5 1 OVARIAN NEOPLASMS ASN HIS 372 BRCA2 PROTEIN YES 675 BRCA2 119395734|YES "RS144848(BRCA2,ASN,HIS,372)" "600185(BRCA2,ASN,HIS,372)" POLYMORPHISM(675ASN372HIS) 16760288 3 1 "BREAST NEOPLASMS, OVARIAN NEOPLASMS" ASN HIS 550 BRCA1 PROTEIN YES 672 BRCA1 6552299|YES;6552303|YES;6552311|YES;6552301|YES "RS56012641(BRCA1,ASN,HIS,550)" POLYMORPHISM(672ASN550HIS) 7798298 3 1 BREAST CARCINOMA GLN HIS 1096 APC PROTEIN YES 324 APC 189011566|YES;53759122|YES;189011568|YES 10485478 7 2 "BREAST NEOPLASMS, HEPATOCELLULAR CARCINOMA" GLN HIS 1445 IGF2R PROTEIN YES 3482 IGF2R 119964726|YES 12628588 3 1 BREAST NEOPLASMS GLN HIS 253 CEBPD PROTEIN YES 1052 CEBPD 28872798|YES 17848578 3 1 "BREAST NEOPLASMS, OVARIAN NEOPLASMS, ENDOMETRIAL NEOPLASMS" GLN HIS 564 BARD1 PROTEIN NO 12023985 3 1 BREAST NEOPLASMS ARG HIS 188 XRCC2 PROTEIN YES 7516 XRCC2 4885657|YES "RS3218536(XRCC2,ARG,HIS,188)" POLYMORPHISM(7516ARG188HIS) 18083510 3 1 BREAST NEOPLASMS ARG HIS 259 HSD17B1 PROTEIN YES 3292 HSD17B1 223718074|YES 12645254 7 1 "BREAST NEOPLASMS, OVARIAN NEOPLASMS" MET ILE 1652 BRCA1 PROTEIN YES 672 BRCA1 6552299|YES;6552303|YES;6552301|YES "RS1799967(BRCA1,MET,ILE,1652)" POLYMORPHISM(672MET1652ILE) 7798298 3 1 BREAST CARCINOMA SER ILE 1081 APC PROTEIN YES 324 APC 189011566|YES;53759122|YES;189011568|YES 10485478 7 2 "BREAST NEOPLASMS, HEPATOCELLULAR CARCINOMA" ILE THR 1572 IGF2R PROTEIN YES 3482 IGF2R 119964726|YES 15342448 7 1 BREAST NEOPLASMS ILE VAL 105 GSTP1 PROTEIN YES 2950 GSTP1 4504183|YES "RS1695(GSTP1,ILE,VAL,105)" "RS1695(GSTP1,ILE,VAL,105)" POLYMORPHISM(2950ILE105VAL) 12872252 8 1 "BREAST NEOPLASMS, OVARIAN NEOPLASMS" VAL ILE 524 ZNF350 PROTEIN YES 59348 ZNF350 59710107|YES "RS4988337(ZNF350,VAL,ILE,524)" POLYMORPHISM(59348VAL524ILE) 16061562 3 1 BREAST NEOPLASMS ILE VAL 738 BARD1 PROTEIN NO 17553133 3 1 BREAST NEOPLASMS LYS ARG 303 ESR1 PROTEIN YES 2099 ESR1 170295800|YES;170295802|YES 11212236 3 1 BREAST NEOPLASMS LEU MET 452 TGFBR2 PROTEIN NO 12516098 4 1 BREAST NEOPLASMS PRO LEU 1315 PTCH1 PROTEIN NO "RS357564(PTCH1,PRO,LEU,1315)" 15059511 8 1 BREAST NEOPLASMS PRO LEU 359 BRCA1 PROTEIN YES 672 BRCA1 6552299|YES;6552303|YES;237681125|PLUS;6552317|PLUS;237681123|PLUS;6552321|REVPLUS;6552311|YES;6552301|YES 17317153 3 1 BREAST NEOPLASMS PRO LEU 871 BRCA1 PROTEIN YES 672 BRCA1 237681121|PLUS;6552299|YES;6552303|YES;6552311|YES;6552301|YES "RS799917(BRCA1,PRO,LEU,871)" POLYMORPHISM(672PRO871LEU) 12872252 8 1 "BREAST NEOPLASMS, OVARIAN NEOPLASMS" GLN LEU 540 BRIP1 PROTEIN NO "RS4988349(BRIP1,GLN,LEU,540)" 10698474 6 1 BREAST NEOPLASMS VAL LEU 432 CYP1B1 PROTEIN NO "RS1056836(CYP1B1,VAL,LEU,432)" "RS1056836(CYP1B1,VAL,LEU,432)" 12917204 7 1 BREAST NEOPLASMS LEU VAL 546 ATM PROTEIN YES 472 ATM 71902540|YES "RS2227924(ATM,LEU,VAL,546)" POLYMORPHISM(472LEU546VAL) 17848578 3 1 "BREAST NEOPLASMS, OVARIAN NEOPLASMS, ENDOMETRIAL NEOPLASMS" VAL LEU 695 BARD1 PROTEIN NO 12100746 4 1 BREAST NEOPLASMS VAL LEU 89 SRD5A2 PROTEIN YES 6716 SRD5A2 39812447|REV POLYMORPHISM(6716VAL89LEU) 17493881 3 1 "BREAST NEOPLASMS, OVARIAN NEOPLASMS" VAL MET 1833 BRCA1 PROTEIN YES 672 BRCA1 6552299|YES;6552303|YES;6552301|YES 11212236 3 1 BREAST NEOPLASMS VAL MET 387 TGFBR2 PROTEIN NO "RS35766612(TGFBR2,VAL,MET,387)" 16333312 7 1 "BREAST NEOPLASMS, OVARIAN NEOPLASMS" VAL MET 507 BARD1 PROTEIN NO "RS2070094(BARD1,VAL,MET,507)" 16969499 3 1 "BREAST NEOPLASMS, OVARIAN NEOPLASMS" SER ASN 1841 BRCA1 PROTEIN YES 672 BRCA1 6552299|YES;6552303|YES;6552301|YES 11212236 3 1 BREAST NEOPLASMS ASN SER 435 TGFBR2 PROTEIN NO 16061562 3 1 "BREAST NEOPLASMS, UTERINE NEOPLASMS" SER ASN 761 BARD1 PROTEIN NO 15101044 3 2 BREAST NEOPLASMS PRO ARG 1054 ATM PROTEIN YES 472 ATM 71902540|YES "RS1800057(ATM,PRO,ARG,1054)" POLYMORPHISM(472PRO1054ARG) 17550384 3 1 "BREAST CARCINOMA, COLORECTAL NEOPLASMS, NON-SMALL-CELL LUNG CARCINOMA, GASTRIC CARCINOMA" PRO ARG 350 BECN1 PROTEIN YES 8678 BECN1 4502395|YES 12702523 3 1 BREAST NEOPLASMS ARG PRO 72 P53 PROTEIN YES 7157 P53 187830855|REV;187830823|REV;187830777|REV;120407068|REV 14683420 9 1 BREASE NEOPLASMS ARG PRO 72 TP53 PROTEIN YES 7157 TP53 187830855|REV;187830823|REV;187830777|REV;120407068|REV "RS1042522(TP53,ARG,PRO,72)" 16825437 3 1 BREAST NEOPLASMS SER PRO 558 BARD1 PROTEIN NO 18565893 7 1 "BREAST NEOPLASMS, THYROID NEOPLASMS, ENDOCRINE GLAND NEOPLASMS" SER PRO 707 ATM PROTEIN YES 472 ATM 20336199|REVPLUS;71902540|YES "RS4986761(ATM,SER,PRO,707)" POLYMORPHISM(472SER707PRO) 18036263 8 1 BREAST NEOPLASMS ARG GLN 1699 BRCA1 PROTEIN YES 672 BRCA1 237681121|REVPLUS;6552299|YES;6552303|YES;6552301|YES "RS41293459(BRCA1,ARG,GLN,1699)" POLYMORPHISM(672ARG1699GLN) 15235021 3 1 "STOMACH NEOPLASMS, BREAST NEOPLASMS" ARG GLN 732 CDH1 PROTEIN YES 999 CDH1 4757960|YES|PLUS 17889706 3 1 BREAST NEOPLASMS SER ARG 255 LIMD1 PROTEIN YES 8994 LIMD1 7657307|YES|PLUS 12645254 6 1 "BREAST NEOPLASMS, OVARIAN NEOPLASMS" TRP ARG 1837 BRCA1 PROTEIN YES 672 BRCA1 6552299|YES;6552303|YES;6552301|YES 15235021 3 1 "STOMACH NEOPLASMS, BREAST NEOPLASMS" TRP ARG 409 CDH1 PROTEIN YES 999 CDH1 4757960|YES 10901165 4 1 PRO ALA 250 P53 PROTEIN YES 7157 P53 187830855|YES;187830823|YES;187830777|YES;120407068|YES DISEASE(7157PRO250ALA) 17130833 8 1 BREAST NEOPLASMS VAL ALA 143 P53 PROTEIN YES 7157 P53 187830855|YES;187830823|YES;187830909|REVPLUS;187830777|YES;187830901|REVPLUS;187830894|REVPLUS;120407068|YES DISEASE(7157VAL143ALA) 11212236 3 1 BREAST NEOPLASMS VAL ALA 447 TGFBR2 PROTEIN YES 7048 TGFBR2 67782326|REV DISEASE(7048VAL447ALA) 10547570 3 1 PHYLLODES TUMOR ARG CYS 273 P53 PROTEIN YES 7157 P53 187830855|YES;187830823|YES;187830777|YES;120407068|YES DISEASE(7157ARG273CYS) 18332865 3 1 BREAST NEOPLASMS CYS SER 124 PTEN PROTEIN YES 5728 PTEN 73765544|YES "601728(PTEN,CYS,SER,124)" DISEASE(5728CYS124SER) 18307025 3 1 "OSTEOSARCOMA, BREAST NEOPLASMS, COLONIC NEOPLASMS, MALIGNANT FIBROUS HISTIOCYTOMA, LUNG NEOPLASMS" TYR CYS 220 P53 PROTEIN YES 7157 P53 187830855|YES;187830823|YES;187830777|YES;120407068|YES DISEASE(7157TYR220CYS) 16503999 9 1 BREAST NEOPLASMS CYS TYR 282 HFE PROTEIN YES 3077 HFE 4504377|YES "RS1800562(HFE,CYS,TYR,282)" "RS1800562(HFE,CYS,TYR,282)" "235200(HFE,CYS,TYR,282)" DISEASE(3077CYS282TYR) 15042566 3 1 BREAST CARCINOMA GLY ASP 245 P53 PROTEIN YES 7157 P53 187830855|YES;187830823|YES;187830777|YES;120407068|YES DISEASE(7157GLY245ASP) 18241035 8 1 BREAST NEOPLASMS ASP HIS 301 ADAM12 PROTEIN YES 8038 ADAM12 73747887|YES DISEASE(8038ASP301HIS) 17919354 5 1 HIS ASP 63 HFE PROTEIN YES 3077 HFE 21040347|YES;21040351|REV;21040349|REV;21040343|YES;21040341|YES;4504377|YES "RS1799945(HFE,HIS,ASP,63)" "RS1799945(HFE,HIS,ASP,63)" "235200(HFE,HIS,ASP,63)" DISEASE(3077HIS63ASP) 18332865 3 1 BREAST NEOPLASMS GLY GLU 129 PTEN PROTEIN YES 5728 PTEN 73765544|YES "601728(PTEN,GLY,GLU,129)" DISEASE(5728GLY129GLU) 10485478 7 2 "BREAST NEOPLASMS, HEPATOCELLULAR CARCINOMA" GLY GLU 1464 IGF2R PROTEIN YES 3482 IGF2R 119964726|YES "147280(IGF2R,GLY,GLU,1464)" DISEASE(3482GLY1464GLU) 18241035 8 1 BREAST NEOPLASMS GLY GLU 479 ADAM12 PROTEIN YES 8038 ADAM12 73747887|YES DISEASE(8038GLY479GLU) 10901165 6 1 GLU LYS 285 P53 PROTEIN YES 7157 P53 187830855|YES|PLUS;187830823|YES|PLUS;187830777|YES|PLUS;120407068|YES|PLUS DISEASE(7157GLU285LYS) 18375489 3 1 "BREAST NEOPLASMS, COLORECTAL NEOPLASMS, LUNG NEOPLASMS, MELANOMA" GLU LYS 542 PIK3CA PROTEIN YES 5290 PIK3CA 54792082|YES DISEASE(5290GLU542LYS) 18186519 3 1 "BREAST NEOPLASMS, COLONIC NEOPLASMS" VAL GLU 600 BRAF PROTEIN YES 673 BRAF 33188459|YES "164757(BRAF,VAL,GLU,600)" DISEASE(673VAL600GLU) 12786840 3 1 BREAST NEOPLASMS ARG GLY 156 TP53 PROTEIN YES 7157 TP53 187830855|YES;187830823|YES;187830777|YES;120407068|YES DISEASE(7157ARG156GLY) 16822847 3 1 BREAST NEOPLASMS GLY ARG 388 FGFR4 PROTEIN YES 2264 FGFR4 47524175|YES;47524173|YES "RS351855(FGFR4,GLY,ARG,388)" "RS351855(FGFR4,GLY,ARG,388)" "134935(FGFR4,GLY,ARG,388)" DISEASE(2264GLY388ARG) 18186519 3 1 "BREAST NEOPLASMS, COLONIC NEOPLASMS" GLY SER 12 KRAS PROTEIN YES 3845 KRAS 15718761|YES|PLUS;15718763|YES|PLUS "190070(KRAS,GLY,SER,12)" DISEASE(3845GLY12SER) 18186519 3 1 "BREAST NEOPLASMS, COLONIC NEOPLASMS" GLY VAL 12 KRAS PROTEIN YES 3845 KRAS 15718761|YES|PLUS;15718763|YES|PLUS "190070(KRAS,GLY,VAL,12)" DISEASE(3845GLY12VAL) 10485478 3 2 "BREAST NEOPLASMS, HEPATOCELLULAR CARCINOMA" GLY VAL 1449 IGF2R PROTEIN YES 3482 IGF2R 119964726|YES "147280(IGF2R,GLY,VAL,1449)" DISEASE(3482GLY1449VAL) 17001622 3 1 BREAST NEOPLASMS VAL GLY 2424 ATM PROTEIN YES 472 ATM 71902540|YES|REVPLUS "RS28904921(ATM,VAL,GLY,2424)" "607585(ATM,VAL,GLY,2424)" DISEASE(472VAL2424GLY) 11369138 8 1 LOBULAR CARCINOMA LEU HIS 607 MLH1 PROTEIN YES 4292 MLH1 4557757|YES "RS41295284(MLH1,LEU,HIS,607)" DISEASE(4292LEU607HIS) 9815913 7 2 BREAST NEOPLASMS HIS GLN 179 P53 PROTEIN YES 7157 P53 187830855|YES;187830823|YES;187830777|YES;120407068|YES DISEASE(7157HIS179GLN) 9407971 8 1 BREAST NEOPLASMS ARG HIS 175 P53 PROTEIN YES 7157 P53 187830855|YES;187830823|YES;187830777|YES;120407068|YES DISEASE(7157ARG175HIS) 9407971 8 1 BREAST NEOPLASMS ARG HIS 273 P53 PROTEIN YES 7157 P53 187830855|YES;187830823|YES;187830777|YES;120407068|YES DISEASE(7157ARG273HIS) 17541742 7 1 "BREAST NEOPLASMS, OVARIAN NEOPLASMS" ARG HIS 290 TP53 PROTEIN YES 7157 TP53 187830855|YES;187830823|YES;187830777|YES;120407068|YES "RS55819519(TP53,ARG,HIS,290)" DISEASE(7157ARG290HIS) 9585599 8 1 ILE LYS 1307 APC PROTEIN YES 324 APC 189011566|YES|REVPLUS;53759122|YES|REVPLUS;189011568|YES|REVPLUS "RS1801155(APC,ILE,LYS,1307)" "611731(APC,ILE,LYS,1307)" DISEASE(324ILE1307LYS) 12649339 3 1 BREAST NEOPLASMS SER ILE 215 TP53 PROTEIN YES 7157 TP53 187830855|YES;187830823|YES;187830777|YES;120407068|YES DISEASE(7157SER215ILE) 10901165 6 1 SER ILE 240 P53 PROTEIN YES 7157 P53 187830855|YES|PLUS;187830823|YES|PLUS;187830777|YES|PLUS;120407068|YES|PLUS DISEASE(7157SER240ILE) 10901165 6 1 LYS ASN 291 P53 PROTEIN YES 7157 P53 187830855|YES|PLUS;187830823|YES|PLUS;187830777|YES|PLUS;120407068|YES|PLUS DISEASE(7157LYS291ASN) 9419972 3 1 ARG LYS 280 P53 PROTEIN YES 7157 P53 187830855|YES;187830823|YES;187830777|YES;120407068|YES DISEASE(7157ARG280LYS) 8710380 3 1 BREAST NEOPLASMS PRO LEU 82 P53 PROTEIN YES 7157 P53 187830855|YES;187830823|YES;187830777|YES;120407068|YES DISEASE(7157PRO82LEU) 15649950 7 1 BREAST NEOPLASMS PRO LEU 85 CHEK2 PROTEIN YES 11200 CHEK2 6005850|YES;22209009|YES;54112407|YES "RS17883862(CHEK2,PRO,LEU,85)" "604373(CHEK2,PRO,LEU,85)" DISEASE(11200PRO85LEU) 12602915 7 1 BREAST NEOPLASMS ARG LEU 726 AR PROTEIN YES 367 AR 21322252|PLUS "313700(AR,ARG,LEU,726)" DISEASE(367ARG726LEU) 10477429 3 1 "BREAST NEOPLASMS, LI-FRAUMENI SYNDROME" MET THR 133 TP53 DNA YES 7157 TP53 187830855|YES;187830823|YES;187830777|YES;120407068|YES "RS28934873(TP53,MET,THR,133)" "191170(TP53,MET,THR,133)" DISEASE(7157MET133THR) 17217814 6 1 BREAST NEOPLASMS VAL MET 158 COMT PROTEIN YES 1312 COMT 205830453|YES;205830451|YES;4502969|YES "RS4680(COMT,VAL,MET,158)" "116790(COMT,VAL,MET,158)" DISEASE(1312VAL158MET) 17541742 7 1 "BREAST NEOPLASMS, OVARIAN NEOPLASMS" ARG GLN 213 TP53 PROTEIN YES 7157 TP53 187830855|YES;187830823|YES;187830777|YES;120407068|YES DISEASE(7157ARG213GLN) 9407971 8 1 BREAST NEOPLASMS ARG SER 249 P53 PROTEIN YES 7157 P53 187830855|YES;187830823|YES;187830777|YES;120407068|YES DISEASE(7157ARG249SER) 17574969 3 1 PHYLLODES TUMOR ARG TRP 1699 BRCA1 PROTEIN YES 672 BRCA1 6552299|YES;6552303|YES;6552301|YES "RS55770810(BRCA1,ARG,TRP,1699)" DISEASE(672ARG1699TRP) 9825943 5 1 "CHOROID PLEXUS NEOPLASMS, ASTROCYTOMA, GLIOBLASTOMA, ADRENOCORTICAL CARCINOMA" ARG TRP 248 P53 PROTEIN YES 7157 P53 187830855|YES|PLUS;187830823|YES|PLUS;187830777|YES|PLUS;120407068|YES|PLUS DISEASE(7157ARG248TRP) 17427234 5 1 "NEUROBLASTOMA, LI-FRAUMENI SYNDROME" ARG TRP 248 TP53 PROTEIN YES 7157 TP53 187830855|YES|PLUS;187830823|YES|PLUS;187830777|YES|PLUS;120407068|YES|PLUS "191170(TP53,ARG,TRP,248)" DISEASE(7157ARG248TRP)