[0d2861]: / Table S3 Genetic variants detected in fragments, in plasma and in both, in female dogs with breast cancer..xlsx

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# Tumor_Sample_Barcode Hugo_Symbol Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele2 dbSNP_RS HGVSc HGVSp HGVSp_Short Transcript_ID Exon_Number Consequence Amino_acids Codons IMPACT
1 P10c CCNE1 1 121693328 121693328 + Missense_Mutation SNP G C novel c.51C>G p.Asp17Glu p.D17E XM_022426492.1 2021-09-03 00:00:00 missense_variant D/E gaC/gaG MODERATE
2 P10c GATA3 2 28079026 28079026 + Missense_Mutation SNP G A novel c.806C>T p.Ala269Val p.A269V XM_844060.3 2021-06-04 00:00:00 missense_variant A/V gCc/gTc MODERATE
3 P10c GATA3 2 28084971 28084972 + Missense_Mutation DNP TC CT novel c.356_357delinsAG p.Arg119Lys p.R119K XM_844060.3 2021-06-03 00:00:00 missense_variant R/K aGA/aAG MODERATE
4 P10c FGFR4 4 36248985 36248985 + Missense_Mutation SNP C T novel c.889G>A p.Asp297Asn p.D297N XM_005619171.3 2018-07-01 00:00:00 missense_variant D/N Gac/Aac MODERATE
5 P10c ATM 5 24203364 24203364 + Missense_Mutation SNP C A novel c.7653G>T p.Glu2551Asp p.E2551D XM_014113193.2 52/63 missense_variant E/D gaG/gaT MODERATE
6 P10c ATM 5 24271502 24271502 + Missense_Mutation SNP T C novel c.1153A>G p.Lys385Glu p.K385E XM_014113193.2 1963-09-01 00:00:00 missense_variant K/E Aaa/Gaa MODERATE
7 P10c ALOX12 5 32028659 32028659 + Missense_Mutation SNP T C novel c.557T>C p.Val186Ala p.V186A XM_536613.6 2014-05-01 00:00:00 missense_variant V/A gTc/gCc MODERATE
8 P10c ALOX12 5 32028669 32028670 + Missense_Mutation DNP CA TG novel c.567_568inv p.Ile190Val p.I190V XM_536613.6 2014-05-01 00:00:00 missense_variant RI/RV cgCAtc/cgTGtc MODERATE
9 P10c ALOX12 5 32030679 32030680 + Missense_Mutation DNP GT TC novel c.1033_1034delinsTC p.Val345Ser p.V345S XM_536613.6 2014-08-01 00:00:00 missense_variant V/S GTc/TCc MODERATE
10 P10c ALOX12 5 32030712 32030712 + Missense_Mutation SNP C G novel c.1066C>G p.Gln356Glu p.Q356E XM_536613.6 2014-08-01 00:00:00 missense_variant Q/E Cag/Gag MODERATE
11 P10c ALOX12 5 32030715 32030715 + Missense_Mutation SNP C A novel c.1069C>A p.Leu357Ile p.L357I XM_536613.6 2014-08-01 00:00:00 missense_variant L/I Ctc/Atc MODERATE
12 P10c ALOX12 5 32033839 32033840 + Frame_Shift_Ins INS - GG novel c.1295_1296insGG p.Met433AlafsTer5 p.M433Afs*5 XM_536613.6 2014-10-01 00:00:00 frameshift_variant A/AX gcc/gcGGc HIGH
13 P10c ALOX12 5 32033842 32033843 + Frame_Shift_Del DEL TG - novel c.1298_1299del p.Met433SerfsTer12 p.M433Sfs*12 XM_536613.6 2014-10-01 00:00:00 frameshift_variant M/X aTG/a HIGH
14 P10c ALOX12 5 32033859 32033859 + Missense_Mutation SNP C T novel c.1315C>T p.Arg439Cys p.R439C XM_536613.6 2014-10-01 00:00:00 missense_variant R/C Cgt/Tgt MODERATE
15 P10c PMS2 6 11428992 11428992 + Missense_Mutation SNP G A novel c.958C>T p.Arg320Trp p.R320W XM_014114296.2 2015-08-01 00:00:00 missense_variant R/W Cgg/Tgg MODERATE
16 P10c PMS2 6 11436377 11436377 + Missense_Mutation SNP C G novel c.217G>C p.Val73Leu p.V73L XM_014114296.2 2015-02-01 00:00:00 missense_variant V/L Gtg/Ctg MODERATE
17 P10c PMS2 6 11436385 11436385 + Missense_Mutation SNP T C novel c.209A>G p.Glu70Gly p.E70G XM_014114296.2 2015-02-01 00:00:00 missense_variant E/G gAa/gGa MODERATE
18 P10c PMS2 6 11436392 11436392 + Missense_Mutation SNP A T novel c.202T>A p.Leu68Met p.L68M XM_014114296.2 2015-02-01 00:00:00 missense_variant L/M Ttg/Atg MODERATE
19 P10c PMS2 6 11436395 11436395 + Missense_Mutation SNP C T novel c.199G>A p.Glu67Lys p.E67K XM_014114296.2 2015-02-01 00:00:00 missense_variant E/K Gag/Aag MODERATE
20 P10c PMS2 6 11436426 11436427 + Missense_Mutation DNP TT CG novel c.167_168delinsCG p.Gln56Pro p.Q56P XM_014114296.2 2015-02-01 00:00:00 missense_variant Q/P cAA/cCG MODERATE
21 P10c PMS2 6 11436484 11436484 + Missense_Mutation SNP A G novel c.110T>C p.Leu37Pro p.L37P XM_014114296.2 2015-02-01 00:00:00 missense_variant L/P cTt/cCt MODERATE
22 Tumor_Sample_Barcode Hugo_Symbol Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele2 dbSNP_RS HGVSc HGVSp HGVSp_Short Transcript_ID Exon_Number Consequence Amino_acids Codons IMPACT
23 P10c PALB2 6 22215798 22215798 + Missense_Mutation SNP G T novel c.505G>T p.Asp169Tyr p.D169Y XM_845578.5 2013-04-01 00:00:00 missense_variant D/Y Gat/Tat MODERATE
24 P10c TGFBR3 6 57188895 57188895 + Missense_Mutation SNP G C novel c.1978G>C p.Asp660His p.D660H XM_005621935.3 13/17 missense_variant D/H Gat/Cat MODERATE
25 P10c TGFBR3 6 57188903 57188904 + Missense_Mutation DNP TA CC novel c.1986_1987delinsCC p.Ile663Leu p.I663L XM_005621935.3 13/17 missense_variant TI/TL acTAtc/acCCtc MODERATE
26 P10c TGFBR3 6 57188910 57188910 + Nonsense_Mutation SNP G T novel c.1993G>T p.Glu665Ter p.E665* XM_005621935.3 13/17 stop_gained E/* Gaa/Taa HIGH
27 P10c TGFBR3 6 57188920 57188920 + Missense_Mutation SNP G T novel c.2003G>T p.Cys668Phe p.C668F XM_005621935.3 13/17 missense_variant C/F tGt/tTt MODERATE
28 P10c TGFBR3 6 57188928 57188928 + Missense_Mutation SNP G A novel c.2011G>A p.Asp671Asn p.D671N XM_005621935.3 13/17 missense_variant D/N Gat/Aat MODERATE
29 P10c EXO1 7 33239140 33239140 + Missense_Mutation SNP A G novel c.161A>G p.Lys54Arg p.K54R XM_003639186.4 2015-03-01 00:00:00 missense_variant,splice_region_variant K/R aAg/aGg MODERATE
30 P10c AKT1 8 72320612 72320612 + Missense_Mutation SNP G T novel c.1027C>A p.Leu343Met p.L343M XM_022422422.1 2014-11-01 00:00:00 missense_variant L/M Ctg/Atg MODERATE
31 P10c KRT17 9 21156757 21156757 + Missense_Mutation SNP A G novel c.365A>G p.Lys122Arg p.K122R XM_548100.5 2021-09-02 00:00:00 missense_variant K/R aAg/aGg MODERATE
32 P10c KRT17 9 21156791 21156791 + Missense_Mutation SNP C G novel c.399C>G p.His133Gln p.H133Q XM_548100.5 2021-09-02 00:00:00 missense_variant H/Q caC/caG MODERATE
33 P10c KRT17 9 21156798 21156799 + Missense_Mutation DNP CA AG novel c.406_407delinsAG p.Gln136Arg p.Q136R XM_548100.5 2021-09-02 00:00:00 missense_variant Q/R CAg/AGg MODERATE
34 P10c KRT17 9 21156812 21156812 + Missense_Mutation SNP C G novel c.420C>G p.Asp140Glu p.D140E XM_548100.5 2021-09-02 00:00:00 missense_variant D/E gaC/gaG MODERATE
35 P10c KRT17 9 21156816 21156816 + Missense_Mutation SNP A C novel c.424A>C p.Lys142Gln p.K142Q XM_548100.5 2021-09-02 00:00:00 missense_variant K/Q Aag/Cag MODERATE
36 P10c CDC6 9 22306187 22306187 + Missense_Mutation SNP T G novel c.1345A>C p.Lys449Gln p.K449Q XM_005624534.3 2021-12-10 00:00:00 missense_variant K/Q Aaa/Caa MODERATE
37 P10c CDC6 9 22314384 22314384 + Missense_Mutation SNP T C novel c.535A>G p.Asn179Asp p.N179D XM_005624534.3 2021-12-04 00:00:00 missense_variant N/D Aat/Gat MODERATE
38 P10c CDC6 9 22314392 22314392 + Missense_Mutation SNP T C novel c.527A>G p.Lys176Arg p.K176R XM_005624534.3 2021-12-04 00:00:00 missense_variant K/R aAg/aGg MODERATE
39 P10c ERBB2 9 22761207 22761207 + Missense_Mutation SNP C T novel c.3631G>A p.Ala1211Thr p.A1211T XM_022422534.1 27/27 missense_variant A/T Gca/Aca MODERATE
40 P10c ERBB2 9 22761609 22761609 + Nonsense_Mutation SNP G A novel c.3352C>T p.Gln1118Ter p.Q1118* XM_022422534.1 26/27 stop_gained Q/* Cag/Tag HIGH
41 P10c ERBB2 9 22763074 22763074 + Missense_Mutation SNP C T novel c.2758G>A p.Ala920Thr p.A920T XM_022422534.1 23/27 missense_variant A/T Gcc/Acc MODERATE
42 P10c ERBB2 9 22770548 22770549 + Missense_Mutation DNP AT TC novel c.1550_1551delinsGA p.His517Arg p.H517R XM_022422534.1 13/27 missense_variant H/R cAT/cGA MODERATE
43 P10c ERBB2 9 22770561 22770561 + Missense_Mutation SNP G T novel c.1538C>A p.Pro513Gln p.P513Q XM_022422534.1 13/27 missense_variant P/Q cCg/cAg MODERATE
44 P10c ERBB2 9 22770565 22770565 + Missense_Mutation SNP A G novel c.1534T>C p.Tyr512His p.Y512H XM_022422534.1 13/27 missense_variant Y/H Tac/Cac MODERATE
45 P10c ERBB2 9 22775543 22775543 + Missense_Mutation SNP G A novel c.847C>T p.Pro283Ser p.P283S XM_022422534.1 2027-07-01 00:00:00 missense_variant P/S Ccc/Tcc MODERATE
46 P10c RAD51C 9 33293917 33293917 + Missense_Mutation SNP C G novel c.516C>G p.His172Gln p.H172Q XM_022423222.1 2021-10-03 00:00:00 missense_variant H/Q caC/caG MODERATE
47 P10c RAD51C 9 33293928 33293928 + Missense_Mutation SNP G A novel c.527G>A p.Gly176Glu p.G176E XM_022423222.1 2021-10-03 00:00:00 missense_variant G/E gGa/gAa MODERATE
48 P10c RAD51C 9 33293931 33293931 + Missense_Mutation SNP G A novel c.530G>A p.Arg177Lys p.R177K XM_022423222.1 2021-10-03 00:00:00 missense_variant R/K aGa/aAa MODERATE
49 P10c RAD51C 9 33293937 33293937 + Missense_Mutation SNP T A novel c.536T>A p.Met179Lys p.M179K XM_022423222.1 2021-10-03 00:00:00 missense_variant M/K aTg/aAg MODERATE
50 P10c NF1 9 41482817 41482817 + Missense_Mutation SNP C G novel c.8212G>C p.Gly2738Arg p.G2738R XM_022423324.1 57/58 missense_variant,splice_region_variant G/R Gga/Cga MODERATE
51 P10c NF1 9 41587157 41587157 + Missense_Mutation SNP G A novel c.4097C>T p.Pro1366Leu p.P1366L XM_022423324.1 32/58 missense_variant P/L cCg/cTg MODERATE
52 P10c NF1 9 41587169 41587169 + Missense_Mutation SNP G T novel c.4085C>A p.Ala1362Asp p.A1362D XM_022423324.1 32/58 missense_variant A/D gCc/gAc MODERATE
53 P10c NF1 9 41587177 41587177 + Missense_Mutation SNP G C novel c.4077C>G p.Ile1359Met p.I1359M XM_022423324.1 32/58 missense_variant I/M atC/atG MODERATE
54 P10c NF1 9 41587204 41587205 + Missense_Mutation DNP CA TG novel c.4049_4050inv p.Val1350Ala p.V1350A XM_022423324.1 32/58 missense_variant V/A gTG/gCA MODERATE
55 P10c NF1 9 41587212 41587212 + Missense_Mutation SNP C T novel c.4042G>A p.Gly1348Ser p.G1348S XM_022423324.1 32/58 missense_variant G/S Ggt/Agt MODERATE
56 P10c NF1 9 41587244 41587244 + Missense_Mutation SNP A C novel c.4010T>G p.Val1337Gly p.V1337G XM_022423324.1 32/58 missense_variant,splice_region_variant V/G gTg/gGg MODERATE
57 F1 BCL2 1 13900319 13900319 + Missense_Mutation SNP G C novel c.568G>C p.Ala190Pro p.A190P NM_001002949.1 2021-04-04 00:00:00 missense_variant A/P Gcc/Ccc MODERATE
58 F1 BCL2 1 13900326 13900326 + Missense_Mutation SNP T G novel c.575T>G p.Val192Gly p.V192G NM_001002949.1 2021-04-04 00:00:00 missense_variant V/G gTg/gGg MODERATE
59 F1 GATA3 2 28084971 28084972 + Missense_Mutation DNP TC CT novel c.356_357delinsAG p.Arg119Lys p.R119K XM_844060.3 2021-06-03 00:00:00 missense_variant R/K aGA/aAG MODERATE
60 F1 MTOR 2 84833425 84833425 + Splice_Site SNP G C novel c.841-1G>C nan p.X281_splice XM_005618003.3 nan splice_acceptor_variant nan nan HIGH
61 F1 MTOR 2 84833430 84833430 + Missense_Mutation SNP T C novel c.845T>C p.Leu282Pro p.L282P XM_005618003.3 1958-07-01 00:00:00 missense_variant L/P cTg/cCg MODERATE
62 F1 ATM 5 24265195 24265195 + Missense_Mutation SNP C T novel c.2137G>A p.Glu713Lys p.E713K XM_014113193.2 14/63 missense_variant E/K Gag/Aag MODERATE
63 F1 FOXC2 5 66295345 66295345 + Missense_Mutation SNP G T novel c.349C>A p.Gln117Lys p.Q117K XM_014113959.2 2021-02-01 00:00:00 missense_variant Q/K Cag/Aag MODERATE
64 F1 FOXC2 5 66295348 66295348 + Missense_Mutation SNP A C novel c.346T>G p.Trp116Gly p.W116G XM_014113959.2 2021-02-01 00:00:00 missense_variant W/G Tgg/Ggg MODERATE
65 F1 FOXC2 5 66295383 66295383 + Missense_Mutation SNP T G novel c.311A>C p.Asp104Ala p.D104A XM_014113959.2 2021-02-01 00:00:00 missense_variant D/A gAc/gCc MODERATE
66 F1 TGFBR3 6 57181657 57181657 + Missense_Mutation SNP T G novel c.1577T>G p.Val526Gly p.V526G XM_005621935.3 2017-10-01 00:00:00 missense_variant V/G gTt/gGt MODERATE
67 F1 FOXA1 8 16079618 16079620 + In_Frame_Del DEL CCG - novel c.879_881del p.Gly294del p.G294del XM_847261.4 2021-05-02 00:00:00 inframe_deletion GG/G ggCGGa/gga MODERATE
68 F1 AKT1 8 72321248 72321248 + Missense_Mutation SNP A G novel c.650T>C p.Phe217Ser p.F217S XM_022422422.1 2014-08-01 00:00:00 missense_variant F/S tTc/tCc MODERATE
69 F1 BRIP1 9 34854418 34854418 + Missense_Mutation SNP T A novel c.718T>A p.Ser240Thr p.S240T XM_847556.5 2020-07-01 00:00:00 missense_variant S/T Tcc/Acc MODERATE
70 F1 BRIP1 9 34854442 34854442 + Missense_Mutation SNP G T novel c.742G>T p.Gly248Trp p.G248W XM_847556.5 2020-07-01 00:00:00 missense_variant G/W Ggg/Tgg MODERATE
71 F1 NF1 9 41484290 41484290 + Splice_Site SNP A C novel c.7995+2T>G nan p.X2665_splice XM_022423324.1 nan splice_donor_variant nan nan HIGH
72 F1 CDK2 10 302984 302984 + Missense_Mutation SNP A G novel c.394A>G p.Asn132Asp p.N132D XM_005625479.3 2021-08-04 00:00:00 missense_variant N/D Aat/Gat MODERATE
73 F1 CDK2 10 302995 302995 + Missense_Mutation SNP C G novel c.405C>G p.Ile135Met p.I135M XM_005625479.3 2021-08-04 00:00:00 missense_variant I/M atC/atG MODERATE
74 F1 CDK2 10 303006 303006 + Missense_Mutation SNP G T novel c.416G>T p.Gly139Val p.G139V XM_005625479.3 2021-08-04 00:00:00 missense_variant G/V gGg/gTg MODERATE
75 F1 CDK2 10 303012 303013 + Missense_Mutation DNP TC GG novel c.422_423delinsGG p.Ile141Arg p.I141R XM_005625479.3 2021-08-04 00:00:00 missense_variant I/R aTC/aGG MODERATE
76 F1 CDK2 10 303026 303026 + Missense_Mutation SNP T C novel c.436T>C p.Phe146Leu p.F146L XM_005625479.3 2021-08-04 00:00:00 missense_variant F/L Ttt/Ctt MODERATE
77 F1 MELK 11 53050586 53050586 + Nonsense_Mutation SNP C A novel c.1199C>A p.Ser400Ter p.S400* XM_014117862.2 14/18 stop_gained S/* tCa/tAa HIGH
78 F1 SFRP1 16 24262826 24262827 + Frame_Shift_Ins INS - A rs851244653 c.374_375insA p.Phe125LeufsTer9 p.F125Lfs*9 XM_003639564.2 2021-04-02 00:00:00 frameshift_variant,splice_region_variant F/LX ttc/ttAc HIGH
79 F1 RRM2 17 7106660 7106660 + Missense_Mutation SNP A G novel c.109A>G p.Asn37Asp p.N37D XM_540076.6 2021-10-01 00:00:00 missense_variant N/D Aac/Gac MODERATE
80 F1 RRM2 17 7106665 7106737 + Splice_Site DEL GGTGAGCGCGCGCGCGGGCCCGGGGGCGGGGACCTGAGGGCCGGGGCTGCCCCTCACCGCGCGTCTCCCCGCA - novel c.114+1_115-1del nan p.X38_splice XM_540076.6 2021-10-01 00:00:00 splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant nan nan HIGH
81 F1 RRM2 17 7110434 7110435 + Frame_Shift_Ins INS - GGAGAACG novel c.679+1_679+2insAGAACGGG nan nan XM_540076.6 2021-10-06 00:00:00 frameshift_variant,splice_region_variant -/GEX -/GGAGAACG HIGH
82 F1 BRCA2 25 7735412 7735413 + In_Frame_Ins INS - TTT rs853007536 c.9995_9996insAAA p.Met3332delinsIleLys p.M3332delinsIK XM_014107324.2 27/27 protein_altering_variant M/IK atg/atAAAg MODERATE
83 F1 BRCA2 25 7768691 7768693 + In_Frame_Del DEL AAC - rs397511123 c.6918_6920del p.Leu2307del p.L2307del XM_014107324.2 2027-12-01 00:00:00 inframe_deletion LL/L ttGTTa/tta MODERATE
84 F1 CEP55 28 7771788 7771789 + Frame_Shift_Ins INS - T rs852818748 c.593dup p.Leu198PhefsTer6 p.L198Ffs*6 XM_022411809.1 2021-10-06 00:00:00 frameshift_variant,splice_region_variant A/AX gct/gcTt HIGH
85 F1 CEP55 28 7777487 7777488 + Missense_Mutation DNP GT TC novel c.1332_1333delinsTC p.Gln444_Tyr445delinsHisHis p.Q444_Y445delinsHH XM_022411809.1 2021-10-10 00:00:00 missense_variant QY/HH caGTac/caTCac MODERATE
86 F1 USH2A 38 11066225 11066225 + Missense_Mutation SNP A C novel c.15504T>G p.Ser5168Arg p.S5168R XM_545710.4 70/71 missense_variant S/R agT/agG MODERATE
87 F1 USH2A 38 11066228 11066228 + Missense_Mutation SNP A T novel c.15501T>A p.Asp5167Glu p.D5167E XM_545710.4 70/71 missense_variant D/E gaT/gaA MODERATE
88 Both GATA3 2 28084971 28084972 + Missense_Mutation DNP TC CT novel c.356_357delinsAG p.Arg119Lys p.R119K XM_844060.3 2021-06-03 00:00:00 missense_variant R/K aGA/aAG MODERATE