Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
INF2	64423	broad.mit.edu	37	14	105180688	105180689	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr14:105180688_105180689insT	ENST00000392634.4	+	21	3301_3302	c.3189_3190insT	c.(3190-3192)ttgfs	p.L1064fs	INF2_ENST00000330634.7_Frame_Shift_Ins_p.L1064fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1064					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCCTGGAGCAGTTGGAGGAGGG	0.663		NA											False	2	False	14:105180688	0
MBD1	4152	broad.mit.edu	37	18	47797907	47797914	+	Splice_Site	DEL	GGACCTAG	GGACCTAG	-			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	GGACCTAG	GGACCTAG	-	-	GGACCTAG	GGACCTAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr18:47797907_47797914delGGACCTAG	ENST00000591416.1	-	16	2210_2213	c.1779_1782delCTAGGTCC	c.(1777-1782)agctag>ag	p.S*593fs	MBD1_ENST00000590208.1_Intron|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000269468.5_Splice_Site_p.S*593fs|MBD1_ENST00000585595.1_Splice_Site_p.S*618fs|MBD1_ENST00000347968.3_Splice_Site_p.S*537fs|MBD1_ENST00000398488.1_Splice_Site_p.S*491fs|MBD1_ENST00000398495.2_Splice_Site_p.S*554fs|MBD1_ENST00000339998.6_Intron|MBD1_ENST00000398493.1_Splice_Site_p.S*537fs|MBD1_ENST00000457839.2_Splice_Site_p.S*618fs|MBD1_ENST00000353909.3_Splice_Site_p.S*544fs|MBD1_ENST00000591535.1_Splice_Site_p.S*524fs|MBD1_ENST00000585672.1_Intron|MBD1_ENST00000349085.2_Splice_Site_p.S*491fs|MBD1_ENST00000424334.2_Splice_Site_p.S*644fs|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000382948.5_Splice_Site_p.S*593fs|MBD1_ENST00000436910.1_Splice_Site_p.S*524fs			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	593					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TAAGGTCTTTGGACCTAGGGAAAAGGGA	0.442		NA											False	1	False	18:47797907	0
SEPP1	6414	broad.mit.edu	37	5	42800957	42800959	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	CTC	CTC	-	-	CTC	CTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:42800957_42800959delCTC	ENST00000514985.1	-	5	1265_1267	c.1009_1011delGAG	c.(1009-1011)gagdel	p.E337del	SEPP1_ENST00000511224.1_In_Frame_Del_p.E337del|SEPP1_ENST00000507920.1_3'UTR|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000506577.1_In_Frame_Del_p.E337del	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	337					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						CAGTTATGTTCTCCTCTGCCCGA	0.458		NA											False	2	False	5:42800957	0
CCNI2	645121	broad.mit.edu	37	5	132083188	132083188	+	Translation_Start_Site	DEL	A	A	-			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:132083188delA	ENST00000378731.1	+	0	52					NM_001039780.2	NP_001034869.1	Q6ZMN8	CCNI2_HUMAN	cyclin I family, member 2	NA					regulation of cyclin-dependent protein kinase activity		protein kinase binding			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGCTCACGACATGGCCTCGGG	0.697		NA											False	1	False	5:132083188	0
MYH2	4620	broad.mit.edu	37	17	10436865	10436865	+	Silent	SNP	G	G	A	rs146411264		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr17:10436865G>A	ENST00000245503.5	-	20	2649	c.2265C>T	c.(2263-2265)atC>atT	p.I755I	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Silent_p.I755I|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	755	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGTCAATGTCGATGGATGCAA	0.403		NA											False	0	True	17:10436865	0
PEG3	5178	broad.mit.edu	37	19	57328906	57328906	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr19:57328906G>A	ENST00000326441.9	-	10	1267	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R178W|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R302W|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R176W	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	302					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAAATCCCCCGCCGGTGGGTT	0.458		NA											False	0	True	19:57328906	0
DTL	51514	broad.mit.edu	37	1	212209261	212209261	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:212209261C>G	ENST00000366991.4	+	1	343	c.29C>G	c.(28-30)cCc>cGc	p.P10R	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.P10R	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	10					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		CTCCGCCAGCCCCAGCTTGGC	0.572		NA											False	0	True	1:212209261	0
SHOC2	8036	broad.mit.edu	37	10	112724158	112724158	+	Silent	SNP	A	A	G			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:112724158A>G	ENST00000369452.4	+	2	387	c.42A>G	c.(40-42)aaA>aaG	p.K14K	SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Silent_p.K14K	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	14					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		CTAAAGAAAAAGATCCCAAAG	0.383		NA											False	0	True	10:112724158	0
LRRC7	57554	broad.mit.edu	37	1	70488845	70488845	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:70488845C>T	ENST00000310961.5	+	18	1901	c.1483C>T	c.(1483-1485)Cgt>Tgt	p.R495C	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Missense_Mutation_p.R490C			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	490						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AAGGGGCCAGCGTGGGATTAC	0.542		NA											False	0	False	1:70488845	0
CBFB	865	broad.mit.edu	37	16	67070587	67070587	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr16:67070587G>A	ENST00000290858.6	+	3	472	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	CBFB_ENST00000412916.2_Missense_Mutation_p.A71T|CBFB_ENST00000561924.2_5'UTR	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	71					transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		GTTTTTTCCGGCCAGCTGGCA	0.423		NA	T	MYH11	AML								False	0	False	16:67070587	0
FGF18	8817	broad.mit.edu	37	5	170876235	170876235	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:170876235G>A	ENST00000274625.5	+	4	879	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	112					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGCATGAACCGCAAAGGCAAG	0.567		NA											False	0	False	5:170876235	0
PMEPA1	56937	broad.mit.edu	37	20	56234669	56234669	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr20:56234669T>C	ENST00000341744.3	-	2	513	c.194A>G	c.(193-195)tAc>tGc	p.Y65C	PMEPA1_ENST00000265626.4_Missense_Mutation_p.Y15C|PMEPA1_ENST00000347215.4_Missense_Mutation_p.Y30C|PMEPA1_ENST00000395816.3_Missense_Mutation_p.Y15C|PMEPA1_ENST00000472841.1_5'UTR|PMEPA1_ENST00000395814.1_Missense_Mutation_p.Y15C	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	65					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						AGACAGCTTGTAGTGGCTCAG	0.577		NA											False	0	False	20:56234669	0
PCDHA1	0	broad.mit.edu	37	5	140167552	140167552	+	Silent	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:140167552C>T	ENST00000504120.2	+	1	1677	c.1677C>T	c.(1675-1677)aaC>aaT	p.N559N	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Silent_p.N559N	NM_018900.2	NP_061723.1				NA										breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACGAGAACGACAACGCGC	0.672		NA											False	0	False	5:140167552	0
DBF4B	80174	broad.mit.edu	37	17	42828492	42828492	+	Silent	SNP	G	G	A	rs148114647	byFrequency	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr17:42828492G>A	ENST00000315005.3	+	14	1857	c.1719G>A	c.(1717-1719)ccG>ccA	p.P573P	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	573					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCTCACATCCGTGTACCCTTG	0.547		NA											False	0	False	17:42828492	0
CPXM2	119587	broad.mit.edu	37	10	125557566	125557566	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:125557566C>T	ENST00000241305.3	-	6	969	c.815G>A	c.(814-816)cGc>cAc	p.R272H	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	272	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		AGGGTTTATGCGGATGTAGCG	0.517		NA											False	0	False	10:125557566	0
PLA2G2C	391013	broad.mit.edu	37	1	20501534	20501534	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:20501534C>A	ENST00000429261.2	-	2	205	c.145G>T	c.(145-147)Ggg>Tgg	p.G49W	PLA2G2C_ENST00000247992.5_Missense_Mutation_p.G52W|PLA2G2C_ENST00000495760.2_5'UTR					phospholipase A2, group IIC	NA										NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)	7		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTTTATCCCCAAGCCCACAG	0.502		NA											False	0	True	1:20501534	0
ESRRG	2104	broad.mit.edu	37	1	216680448	216680448	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:216680448C>A	ENST00000391890.3	-	9	1679	c.1162G>T	c.(1162-1164)Gct>Tct	p.A388S	ESRRG_ENST00000366938.2_Missense_Mutation_p.A381S|ESRRG_ENST00000487276.1_Missense_Mutation_p.A381S|ESRRG_ENST00000366937.1_Missense_Mutation_p.A416S|ESRRG_ENST00000360012.3_Missense_Mutation_p.A381S|ESRRG_ENST00000493748.1_Missense_Mutation_p.A381S|ESRRG_ENST00000408911.3_Missense_Mutation_p.A404S|ESRRG_ENST00000493603.1_Missense_Mutation_p.A381S|ESRRG_ENST00000361525.3_Missense_Mutation_p.A381S|ESRRG_ENST00000361395.2_Missense_Mutation_p.A381S|ESRRG_ENST00000463665.1_Missense_Mutation_p.A342S|ESRRG_ENST00000359162.2_Missense_Mutation_p.A381S|ESRRG_ENST00000366940.2_Missense_Mutation_p.A381S	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	404					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TGCTGGCCAGCTTCATAATCC	0.498		NA											False	0	False	1:216680448	0
KCNQ3	3786	broad.mit.edu	37	8	133141815	133141815	+	Silent	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr8:133141815C>T	ENST00000388996.4	-	15	2733	c.2313G>A	c.(2311-2313)tcG>tcA	p.S771S	KCNQ3_ENST00000519445.1_Silent_p.S759S|KCNQ3_ENST00000521134.1_Silent_p.S651S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	771					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AGATTCGGTCCGAGTAGGGGC	0.607		NA											False	0	False	8:133141815	0
HOXA3	3200	broad.mit.edu	37	7	27148046	27148046	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr7:27148046C>T	ENST00000396352.4	-	3	1019	c.820G>A	c.(820-822)Ggt>Agt	p.G274S	HOXA3_ENST00000317201.2_Missense_Mutation_p.G274S|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	274					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						AGATAGCCACCGGCTCCGGGG	0.627		NA											False	0	False	7:27148046	0
OR2G2	81470	broad.mit.edu	37	1	247752184	247752184	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:247752184C>T	ENST00000320065.1	+	1	523	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R175C(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTGTGGGCATCGCCAAGTGGA	0.557		NA											False	0	False	1:247752184	0
CHML	1122	broad.mit.edu	37	1	241797637	241797637	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:241797637T>C	ENST00000366553.1	-	1	1595	c.1432A>G	c.(1432-1434)Ata>Gta	p.I478V	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	478					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GGAGGAACTATCAGAATGGAA	0.428		NA											False	0	False	1:241797637	0
TTLL12	23170	broad.mit.edu	37	22	43575882	43575882	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr22:43575882G>A	ENST00000216129.6	-	4	734	c.671C>T	c.(670-672)aCg>aTg	p.T224M		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	224					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CCACAGCAGCGTGTAGGCCAC	0.657		NA											False	0	False	22:43575882	0
RAB27A	5873	broad.mit.edu	37	15	55497880	55497880	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr15:55497880G>A	ENST00000396307.2	-	6	742	c.491C>T	c.(490-492)gCt>gTt	p.A164V	RAB27A_ENST00000569493.1_Missense_Mutation_p.A164V|RAB27A_ENST00000564609.1_Missense_Mutation_p.A164V|RAB27A_ENST00000336787.1_Missense_Mutation_p.A164V	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	164					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		CCCATTGGCAGCACTAGTTTC	0.443		NA											False	0	False	15:55497880	0
TP53	7157	broad.mit.edu	37	17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr17:7574018G>A	ENST00000269305.4	-	10	1198	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000359597.4_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATCTCGAAGCGCTCACGCCCA	0.522		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			False	0	False	17:7574018	0
BANP	54971	broad.mit.edu	37	16	88061097	88061097	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr16:88061097T>C	ENST00000393207.1	+	8	1101	c.880T>C	c.(880-882)Ttc>Ctc	p.F294L	BANP_ENST00000355163.5_Missense_Mutation_p.F269L|BANP_ENST00000479780.2_Missense_Mutation_p.F263L|BANP_ENST00000286122.7_Missense_Mutation_p.F294L|BANP_ENST00000538234.1_Missense_Mutation_p.F302L|BANP_ENST00000355022.4_Missense_Mutation_p.F263L|BANP_ENST00000393208.2_Missense_Mutation_p.F263L	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	294	BEN.|Interaction with CUX1 and HDAC1 (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		AGGTCACCTTTTCTATAAATT	0.617		NA											False	0	True	16:88061097	0
TDRD1	56165	broad.mit.edu	37	10	115970681	115970681	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:115970681G>T	ENST00000251864.2	+	13	1768	c.1615G>T	c.(1615-1617)Gat>Tat	p.D539Y	TDRD1_ENST00000422662.1_Missense_Mutation_p.D200Y|TDRD1_ENST00000369281.2_Missense_Mutation_p.D539Y|TDRD1_ENST00000369280.1_Missense_Mutation_p.D539Y|TDRD1_ENST00000369282.1_Missense_Mutation_p.D539Y	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	539					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TCCACGCTCTGATTTTTATCC	0.348		NA											False	0	False	10:115970681	0
BCL7A	605	broad.mit.edu	37	12	122492809	122492809	+	Missense_Mutation	SNP	G	G	A	rs148056282		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr12:122492809G>A	ENST00000538010.1	+	5	3208	c.538G>A	c.(538-540)Gca>Aca	p.A180T	BCL7A_ENST00000261822.4_Missense_Mutation_p.A180T	NM_020993.3	NP_066273.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	180					negative regulation of transcription, DNA-dependent					haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		GGGTCTGGCCGCAGAGACGTC	0.567		NA	T	MYC	BNHL						OREG0022214	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	12:122492809	0
HLA-V	0	broad.mit.edu	37	6	29761774	29761774	+	RNA	SNP	G	G	C			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr6:29761774G>C	ENST00000457107.1	+	0	1000										NA											NA						tcctcagcaggattggtgcaa	0.542		NA											False	0	False	6:29761774	0
TACR1	6869	broad.mit.edu	37	2	75425709	75425709	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr2:75425709C>T	ENST00000305249.5	-	1	1117	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	TACR1_ENST00000409848.3_Missense_Mutation_p.A118T	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	NA					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TAGATACTGGCGAAGACAGCG	0.498		NA											False	0	False	2:75425709	0
TPTE2	93492	broad.mit.edu	37	13	20006615	20006615	+	Missense_Mutation	SNP	C	C	T	rs140778301		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr13:20006615C>T	ENST00000400230.2	-	16	1264	c.1220G>A	c.(1219-1221)cGt>cAt	p.R407H	TPTE2_ENST00000390680.2_Missense_Mutation_p.R330H|TPTE2_ENST00000457266.2_Missense_Mutation_p.R296H|TPTE2_ENST00000382978.1_Missense_Mutation_p.R367H|TPTE2_ENST00000382977.4_Missense_Mutation_p.R407H|TPTE2_ENST00000382975.4_Missense_Mutation_p.R367H|TPTE2_ENST00000400103.2_Missense_Mutation_p.R296H|TPTE2_ENST00000255310.6_Missense_Mutation_p.R330H			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	407	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GCACTTACCACGAATCGAATA	0.393		NA											False	0	True	13:20006615	0
ANKRD36	375248	broad.mit.edu	37	2	97849220	97849220	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr2:97849220G>A	ENST00000420699.2	+	27	2106	c.1862G>A	c.(1861-1863)tGg>tAg	p.W621*	ANKRD36_ENST00000461153.2_Nonsense_Mutation_p.W621*	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	621										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CAATCGGCCTGGAAGGTAGTT	0.289		NA											False	0	False	2:97849220	0
SLC10A3	8273	broad.mit.edu	37	X	153717321	153717321	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chrX:153717321G>A	ENST00000393586.1	-	3	221	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	SLC10A3_ENST00000393587.4_5'UTR|SLC10A3_ENST00000369649.4_5'UTR|SLC10A3_ENST00000263512.4_5'UTR			P09131	P3_HUMAN	solute carrier family 10, member 3	0					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCCCTCTGCGGCTTAGGAGA	0.622		NA											False	0	False	X:153717321	0
CCNA1	8900	broad.mit.edu	37	13	37012789	37012789	+	Silent	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr13:37012789C>T	ENST00000418263.1	+	5	1025	c.675C>T	c.(673-675)caC>caT	p.H225H	CCNA1_ENST00000449823.1_Silent_p.H182H|CCNA1_ENST00000255465.4_Silent_p.H226H|CCNA1_ENST00000440264.1_Silent_p.H182H	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	226					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		AGATAAGGCACAGACCCAAAG	0.418		NA											False	0	False	13:37012789	0
GRIN2B	2904	broad.mit.edu	37	12	13717418	13717418	+	Silent	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr12:13717418C>T	ENST00000609686.1	-	13	2963	c.2754G>A	c.(2752-2754)ccG>ccA	p.P918P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	NA					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.P918P(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGGCGCTCTGCGGTGAGCCAT	0.572		NA											False	0	False	12:13717418	0
HINFP	25988	broad.mit.edu	37	11	119004822	119004822	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr11:119004822C>T	ENST00000350777.2	+	10	1231	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W	HINFP_ENST00000527410.1_Silent_p.C410C	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	390	Interaction with NPAT.|Required for activation of histone H4 transcription and contributes to DNA- binding.				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	p.R390W(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGGCTATATGCGGCTGCAGCT	0.567		NA									OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	11:119004822	0
UNC5D	137970	broad.mit.edu	37	8	35608224	35608224	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr8:35608224C>T	ENST00000287272.2	+	12	1873	c.1853C>T	c.(1852-1854)gCc>gTc	p.A618V	UNC5D_ENST00000416672.1_Missense_Mutation_p.A692V|UNC5D_ENST00000420357.1_Missense_Mutation_p.A620V|UNC5D_ENST00000404895.2_Missense_Mutation_p.A687V|UNC5D_ENST00000453357.2_Missense_Mutation_p.A682V|UNC5D_ENST00000449677.1_Missense_Mutation_p.A263V			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	687	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity	p.A682V(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACAGACTGTGCCGTGAAGCAA	0.502		NA											False	0	False	8:35608224	0
ADPRHL2	54936	broad.mit.edu	37	1	36557583	36557583	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:36557583G>A	ENST00000373178.4	+	4	619	c.589G>A	c.(589-591)Gct>Act	p.A197T		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	197						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				GCAGGCCCTGGCTGTGCACCT	0.627		NA											False	0	False	1:36557583	0
MAPK13	5603	broad.mit.edu	37	6	36106684	36106684	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr6:36106684G>C	ENST00000211287.4	+	11	1132	c.870G>C	c.(868-870)gaG>gaC	p.E290D	MAPK13_ENST00000373766.5_Missense_Mutation_p.A240P|MAPK13_ENST00000373761.6_Missense_Mutation_p.E280D|MAPK13_ENST00000373759.1_3'UTR	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	290	Protein kinase.				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						AGATGCTGGAGCTAGACGTGG	0.667		NA											False	0	False	6:36106684	0
MMACHC	25974	broad.mit.edu	37	1	45974781	45974781	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:45974781C>A	ENST00000401061.4	+	4	1023	c.743C>A	c.(742-744)cCg>cAg	p.P248Q		NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	248							cobalamin binding	p.P248L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTCCCTCCCCGGACCTTCCC	0.622		NA											False	0	True	1:45974781	0
IFIT1	3434	broad.mit.edu	37	10	91162577	91162577	+	Missense_Mutation	SNP	C	C	T	rs146515241		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:91162577C>T	ENST00000546318.1	+	2	1739	c.452C>T	c.(451-453)gCg>gTg	p.A151V	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000371804.3_Missense_Mutation_p.A182V	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	182					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						GCTGGGTATGCGATCTCTGCC	0.478		NA											False	0	False	10:91162577	0
LRRC30	339291	broad.mit.edu	37	18	7231664	7231664	+	Silent	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr18:7231664G>A	ENST00000383467.2	+	1	542	c.528G>A	c.(526-528)gcG>gcA	p.A176A		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	176								p.A176A(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ACTTCTTCGCGCACATCCCCA	0.552		NA											False	0	False	18:7231664	0
CBWD1	55871	broad.mit.edu	37	9	164038	164038	+	Splice_Site	SNP	C	C	G			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr9:164038C>G	ENST00000377447.3	-	5	486		c.e5-1		CBWD1_ENST00000356521.4_Splice_Site|CBWD1_ENST00000382447.4_Splice_Site|CBWD1_ENST00000377400.4_Splice_Site|CBWD1_ENST00000314367.10_Splice_Site|CBWD1_ENST00000431099.2_Splice_Site			Q9BRT8	CBWD1_HUMAN	COBW domain containing 1	NA							ATP binding|protein binding	p.?(2)		kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCCACTGCACCTGAAAATATA	0.284		NA											False	0	False	9:164038	0
NUMA1	0	broad.mit.edu	37	11	71726747	71726747	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr11:71726747G>A	ENST00000393695.3	-	15	2133	c.1802C>T	c.(1801-1803)gCg>gTg	p.A601V	NUMA1_ENST00000358965.6_Missense_Mutation_p.A601V|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	601					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	p.A601V(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTTGAGAGCCGCATCCCGCTC	0.607		NA	T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	11:71726747	0
GFRA1	2674	broad.mit.edu	37	10	118030528	118030528	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:118030528C>T	ENST00000439649.3	-	3	507	c.140G>A	c.(139-141)cGc>cAc	p.R47H	GFRA1_ENST00000369236.1_Missense_Mutation_p.R47H|GFRA1_ENST00000355422.6_Missense_Mutation_p.R47H	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	47					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CCTTAGCGTGCGGTACTTGGT	0.637		NA											False	0	False	10:118030528	0
MLLT3	4300	broad.mit.edu	37	9	20414349	20414349	+	Silent	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr9:20414349G>A	ENST00000380338.4	-	5	781	c.495C>T	c.(493-495)agC>agT	p.S165S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S162S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	165	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctactgctgctgctgctgc	0.532		NA	T	MLL	ALL								False	0	True	9:20414349	0
SCARA5	286133	broad.mit.edu	37	8	27737142	27737142	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr8:27737142C>T	ENST00000354914.3	-	8	1780	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	SCARA5_ENST00000380385.2_Missense_Mutation_p.R207H	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	432	SRCR.				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GCCGAGCATGCGGCACACCAC	0.642		NA											False	0	False	8:27737142	0
TMEM87A	25963	broad.mit.edu	37	15	42520944	42520944	+	Silent	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr15:42520944C>T	ENST00000389834.4	-	13	1470	c.1206G>A	c.(1204-1206)cgG>cgA	p.R402R	TMEM87A_ENST00000448392.1_Silent_p.R341R	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	402						integral to membrane				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		TGGTGAAATGCCGATACAAAG	0.383		NA											False	0	False	15:42520944	0
INSC	387755	broad.mit.edu	37	11	15212347	15212347	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr11:15212347G>A	ENST00000379554.3	+	6	867	c.821G>A	c.(820-822)cGc>cAc	p.R274H	INSC_ENST00000528567.1_Missense_Mutation_p.R227H|INSC_ENST00000530161.1_Missense_Mutation_p.R227H|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000525218.1_Missense_Mutation_p.R227H|INSC_ENST00000379556.3_Missense_Mutation_p.R227H|INSC_ENST00000424273.1_Missense_Mutation_p.R227H	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	274					cell differentiation|nervous system development	cytoplasm	binding	p.R274H(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CCCTTGTGCCGCATCATAGCC	0.532		NA											False	0	False	11:15212347	0
FNDC3B	64778	broad.mit.edu	37	3	172096148	172096148	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr3:172096148G>A	ENST00000336824.4	+	24	3196	c.3097G>A	c.(3097-3099)Gca>Aca	p.A1033T	FNDC3B_ENST00000415807.2_Missense_Mutation_p.A1033T|FNDC3B_ENST00000416957.1_Missense_Mutation_p.A1033T	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1033	Fibronectin type-III 8.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AATCCAGGCAGCAAGCGAGGC	0.483		NA											False	0	False	3:172096148	0
SAG	6295	broad.mit.edu	37	2	234238171	234238171	+	Silent	SNP	C	C	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr2:234238171C>A	ENST00000409110.1	+	9	911	c.681C>A	c.(679-681)acC>acA	p.T227T	SAG_ENST00000449594.2_Silent_p.T93T	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	227					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TCCCTGTGACCGTGACTGTCA	0.438		NA											False	0	False	2:234238171	0
MTOR	2475	broad.mit.edu	37	1	11217239	11217239	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:11217239C>T	ENST00000361445.4	-	30	4515	c.4439G>A	c.(4438-4440)cGc>cAc	p.R1480H		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1480	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GCAGCGCATGCGGCCCAGCAT	0.532		NA											False	0	False	1:11217239	0
TCF4	6925	broad.mit.edu	37	18	52899813	52899813	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr18:52899813T>C	ENST00000354452.3	-	17	2187	c.1576A>G	c.(1576-1578)Acg>Gcg	p.T526A	TCF4_ENST00000544241.2_Missense_Mutation_p.T455A|TCF4_ENST00000561831.3_Missense_Mutation_p.T366A|TCF4_ENST00000457482.3_Missense_Mutation_p.T366A|TCF4_ENST00000565018.2_Missense_Mutation_p.T526A|TCF4_ENST00000561992.1_Missense_Mutation_p.T396A|TCF4_ENST00000564403.2_Missense_Mutation_p.T532A|TCF4_ENST00000564999.1_Missense_Mutation_p.T526A|TCF4_ENST00000540999.1_Missense_Mutation_p.T502A|TCF4_ENST00000570177.2_Missense_Mutation_p.T396A|TCF4_ENST00000570287.2_Missense_Mutation_p.T366A|TCF4_ENST00000543082.1_Missense_Mutation_p.T484A|TCF4_ENST00000537578.1_Missense_Mutation_p.T502A|TCF4_ENST00000564228.1_Missense_Mutation_p.T455A|TCF4_ENST00000566279.1_Missense_Mutation_p.T466A|TCF4_ENST00000567880.1_Missense_Mutation_p.T466A|TCF4_ENST00000356073.4_Missense_Mutation_p.T526A|TCF4_ENST00000568673.1_Missense_Mutation_p.T502A|TCF4_ENST00000537856.3_Missense_Mutation_p.T396A|TCF4_ENST00000566286.1_Missense_Mutation_p.T523A|TCF4_ENST00000568740.1_Missense_Mutation_p.T501A|TCF4_ENST00000398339.1_Missense_Mutation_p.T628A	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	526					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GAAGATTTCGTGTCTTGCAGG	0.453		NA											False	0	False	18:52899813	0
UGT8	7368	broad.mit.edu	37	4	115597336	115597336	+	Silent	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr4:115597336G>A	ENST00000310836.6	+	6	2040	c.1518G>A	c.(1516-1518)ctG>ctA	p.L506L	UGT8_ENST00000394511.3_Silent_p.L506L	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	506					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		TCAAAAGTCTGTGGTCTAGAA	0.353		NA											False	0	False	4:115597336	0
OR10G7	390265	broad.mit.edu	37	11	123909404	123909404	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr11:123909404A>G	ENST00000330487.5	-	1	313	c.305T>C	c.(304-306)tTt>tCt	p.F102S		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GAAGTGGAAAAAATAGAGCTG	0.532		NA											False	0	True	11:123909404	0
ZSCAN18	65982	broad.mit.edu	37	19	58596116	58596116	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr19:58596116G>A	ENST00000240727.6	-	7	1868	c.1469C>T	c.(1468-1470)gCg>gTg	p.A490V	ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A490V|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A546V|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A354V	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	490					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGGACCGCCCGCCCTAGCCCC	0.741		NA											False	0	True	19:58596116	0
DTL	51514	broad.mit.edu	37	1	212209262	212209262	+	Silent	SNP	C	C	G			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:212209262C>G	ENST00000366991.4	+	1	344	c.30C>G	c.(28-30)ccC>ccG	p.P10P	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Silent_p.P10P	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	10					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		TCCGCCAGCCCCAGCTTGGCG	0.572		NA											False	0	True	1:212209262	0
INHBB	3625	broad.mit.edu	37	2	121106818	121106818	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr2:121106818C>T	ENST00000295228.3	+	2	638	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	198					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				GCGGAAGGTGCGGGTCAAAGT	0.602		NA											False	0	True	2:121106818	0
ASB8	0	broad.mit.edu	37	12	48543613	48543613	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr12:48543613G>A	ENST00000317697.3	-	4	572	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	ASB8_ENST00000539528.1_3'UTR|ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.R135W|ASB8_ENST00000535055.1_3'UTR	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	135					intracellular signal transduction	cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						AGGAGAGCCCGCACACACTCA	0.527		NA											False	0	True	12:48543613	0
GRHL3	57822	broad.mit.edu	37	1	24669202	24669202	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:24669202C>T	ENST00000361548.4	+	10	1455	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C	GRHL3_ENST00000342072.4_Missense_Mutation_p.R316C|GRHL3_ENST00000236255.4_Missense_Mutation_p.R414C|GRHL3_ENST00000356046.2_Missense_Mutation_p.R363C|GRHL3_ENST00000350501.5_Missense_Mutation_p.R409C	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	409					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GAGGAAGATGCGCGATGACGA	0.602		NA											False	0	False	1:24669202	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398284	0
HLA-V	0	broad.mit.edu	37	6	29761771	29761771	+	RNA	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr6:29761771C>T	ENST00000457107.1	+	0	997										NA											NA						acatcctcagcaggattggtg	0.542		NA											False	0	False	6:29761771	0
KIAA0586	9786	broad.mit.edu	37	14	58915077	58915077	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr14:58915077C>T	ENST00000423743.3	+	8	953	c.695C>T	c.(694-696)gCa>gTa	p.A232V	KIAA0586_ENST00000261244.5_Missense_Mutation_p.A276V|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000556134.1_Missense_Mutation_p.A261V|KIAA0586_ENST00000354386.6_Missense_Mutation_p.A329V	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	276										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATTAGTGCTGCACTCAAGACT	0.328		NA											False	0	False	14:58915077	0
ITGA2	3673	broad.mit.edu	37	5	52360796	52360796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:52360796C>T	ENST00000296585.5	+	14	1800	c.1657C>T	c.(1657-1659)Cga>Tga	p.R553*		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	553					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TGAAAACACTCGATTTGGTTC	0.423		NA											False	0	False	5:52360796	0
RP11-934B9.3	0	broad.mit.edu	37	14	24802075	24802075	+	Missense_Mutation	SNP	G	G	A	rs149539471		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr14:24802075G>A	ENST00000555591.1	-	3	477	c.478C>T	c.(478-480)Cgg>Tgg	p.R160W	ADCY4_ENST00000310677.4_Silent_p.S93S|ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000418030.2_Silent_p.S93S|ADCY4_ENST00000554068.2_Silent_p.S93S|ADCY4_ENST00000558563.1_5'UTR						NA											NA						ATACCAAGCCGGACAGGGGAC	0.716		NA									OREG0022624	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	14:24802075	0
FAT4	79633	broad.mit.edu	37	4	126372375	126372375	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr4:126372375C>T	ENST00000394329.3	+	9	10217	c.10204C>T	c.(10204-10206)Ccc>Tcc	p.P3402S	FAT4_ENST00000335110.5_Missense_Mutation_p.P1700S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3402	Cadherin 32.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAATGACCCACCCATTTTTAC	0.458		NA											False	0	True	4:126372375	0
SLC12A7	10723	broad.mit.edu	37	5	1064314	1064314	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:1064314C>T	ENST00000264930.5	-	19	2534	c.2491G>A	c.(2491-2493)Gtc>Atc	p.V831I		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	831					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	AACGAGTCGACGTTCTTGGCC	0.677		NA											False	0	False	5:1064314	0
ODF2	4957	broad.mit.edu	37	9	131245096	131245096	+	Splice_Site	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr9:131245096G>A	ENST00000434106.3	+	10	1280	c.917G>A	c.(916-918)cGc>cAc	p.R306H	ODF2_ENST00000372814.3_Splice_Site_p.R350H|ODF2_ENST00000393527.3_Splice_Site_p.R282H|ODF2_ENST00000604420.1_Splice_Site_p.R306H|ODF2_ENST00000546203.1_Splice_Site_p.R287H|ODF2_ENST00000372791.3_Splice_Site_p.R287H|ODF2_ENST00000535026.1_3'UTR|ODF2_ENST00000393533.2_Splice_Site_p.R306H|ODF2_ENST00000372807.5_Splice_Site_p.R301H|ODF2_ENST00000444119.2_Splice_Site_p.R282H|ODF2_ENST00000448249.3_Splice_Site_p.R225H|ODF2_ENST00000351030.3_Splice_Site_p.R301H	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	NA					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CTCTCCCAGCGCCTGCTGTTA	0.522		NA											False	0	False	9:131245096	0
CSF2RB	1439	broad.mit.edu	37	22	37326748	37326748	+	Silent	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr22:37326748G>A	ENST00000262825.5	+	8	1123	c.906G>A	c.(904-906)ggG>ggA	p.G302G	CSF2RB_ENST00000403662.3_Silent_p.G296G|CSF2RB_ENST00000536485.1_Silent_p.G243G|CSF2RB_ENST00000406230.1_Silent_p.G302G	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	296					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TGAGGGAGGGGCTCGGCAGCC	0.657		NA											False	0	True	22:37326748	0
ATRX	546	broad.mit.edu	37	X	76938955	76938955	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chrX:76938955G>A	ENST00000373344.5	-	9	2007	c.1793C>T	c.(1792-1794)tCc>tTc	p.S598F	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S560F	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	598					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTTAATTGGGGAATTAGAAAG	0.358		NA	"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						False	0	True	X:76938955	0
HKDC1	80201	broad.mit.edu	37	10	71005968	71005968	+	Missense_Mutation	SNP	C	C	T	rs148723879		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:71005968C>T	ENST00000354624.5	+	8	1142	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	HKDC1_ENST00000395086.2_Missense_Mutation_p.R337W	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	337					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GATCGAAACACGGCACGTGGC	0.572		NA											False	0	False	10:71005968	0
HABP4	22927	broad.mit.edu	37	9	99227683	99227683	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr9:99227683C>T	ENST00000375249.4	+	3	652	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	193					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				AGGGGGTATGCGCGGCAGAGG	0.483		NA											False	0	False	9:99227683	0
KDM4C	23081	broad.mit.edu	37	9	6990510	6990510	+	Missense_Mutation	SNP	C	C	T	rs151291155	byFrequency	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr9:6990510C>T	ENST00000381309.3	+	12	2337	c.1772C>T	c.(1771-1773)gCg>gTg	p.A591V	KDM4C_ENST00000428870.2_Missense_Mutation_p.A278V|KDM4C_ENST00000536108.1_Missense_Mutation_p.A410V|KDM4C_ENST00000381306.3_Missense_Mutation_p.A591V|KDM4C_ENST00000535193.1_Missense_Mutation_p.A613V|KDM4C_ENST00000543771.1_Missense_Mutation_p.A591V|KDM4C_ENST00000442236.2_Intron	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	591					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AAGCAGCAGGCGCCAAGTGAT	0.408		NA											False	0	False	9:6990510	0
ATXN7L2	127002	broad.mit.edu	37	1	110032901	110032901	+	Silent	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:110032901C>T	ENST00000369870.3	+	9	1260	c.1245C>T	c.(1243-1245)acC>acT	p.T415T		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	415										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGTTCTGCACCTTTGGGAGCC	0.597		NA									OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	1:110032901	0
SLIT1	6585	broad.mit.edu	37	10	98762035	98762035	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:98762035C>T	ENST00000266058.4	-	36	4491	c.4246G>A	c.(4246-4248)Ggg>Agg	p.G1416R	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Intron	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1416					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCCAGGGCCCCGGCCTGGTTG	0.662		NA											False	0	True	10:98762035	0
AMPD2	271	broad.mit.edu	37	1	110172900	110172900	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:110172900G>A	ENST00000256578.3	+	16	2551	c.2191G>A	c.(2191-2193)Gcc>Acc	p.A731T	AMPD2_ENST00000528667.1_Missense_Mutation_p.A731T|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000528454.1_Missense_Mutation_p.A613T|AMPD2_ENST00000358729.4_Missense_Mutation_p.A656T|AMPD2_ENST00000393688.3_Missense_Mutation_p.A612T|AMPD2_ENST00000342115.4_Missense_Mutation_p.A650T	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	731					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GATCGGCATCGCCATGTCTCC	0.652		NA											False	0	False	1:110172900	0
ZNF548	147694	broad.mit.edu	37	19	57910947	57910947	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr19:57910947G>A	ENST00000366197.5	+	3	1542	c.1292G>A	c.(1291-1293)cGt>cAt	p.R431H	AC003002.6_ENST00000600421.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.R443H|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAATTCTTTCGTTACAACTCC	0.463		NA											False	0	False	19:57910947	0
MYO5C	55930	broad.mit.edu	37	15	52536564	52536564	+	Silent	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr15:52536564C>T	ENST00000261839.7	-	19	2540	c.2379G>A	c.(2377-2379)caG>caA	p.Q793Q	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	793	IQ 2.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCACAGTTTGCTGACCCCGGA	0.527		NA											False	0	False	15:52536564	0
ALS2	57679	broad.mit.edu	37	2	202589136	202589136	+	Missense_Mutation	SNP	G	G	A	rs149670991	by1000genomes	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr2:202589136G>A	ENST00000264276.6	-	21	3766	c.3394C>T	c.(3394-3396)Cgt>Tgt	p.R1132C	ALS2_ENST00000457679.2_Missense_Mutation_p.R444C	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1132					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TGACCATGACGCATATTATCT	0.413		NA											False	0	False	2:202589136	0
ACPT	93650	broad.mit.edu	37	19	51298323	51298323	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr19:51298323G>A	ENST00000270593.1	+	11	1189	c.1189G>A	c.(1189-1191)Gga>Aga	p.G397R	ACPT_ENST00000270594.3_Missense_Mutation_p.G304R	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	397						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCTGCTGGCCGGAGCTGTAGC	0.677		NA											False	0	False	19:51298323	0
COL4A1	1282	broad.mit.edu	37	13	110839601	110839601	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr13:110839601G>A	ENST00000375820.4	-	25	1733	c.1612C>T	c.(1612-1614)Cgg>Tgg	p.R538W		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	538	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTTTGAGCCGCAAGTCGAAA	0.582		NA											False	0	False	13:110839601	0
MROH6	642475	broad.mit.edu	37	8	144654809	144654809	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr8:144654809C>A	ENST00000398882.3	-	1	332	c.76G>T	c.(76-78)Gaa>Taa	p.E26*		NM_001100878.1	NP_001094348.1			maestro heat-like repeat family member 6	NA											NA						CGGATTCCTTCAGTCAGTGCT	0.706		NA											False	0	True	8:144654809	0
