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
PEX14	5195	broad.mit.edu	37	1	10683104	10683104	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr1:10683104G>T	uc001arn.3	+	5	434	c.413G>T	c.(412-414)gGc>gTc	p.G138V	PEX14_uc009vmu.1_Missense_Mutation_p.G95V|PEX14_uc009vmv.3_Missense_Mutation_p.G74V|PEX14_uc010oam.2_Missense_Mutation_p.G74V|PEX14_uc010oan.2_Missense_Mutation_p.G95V|PEX14_uc009vmw.3_Missense_Mutation_p.G74V	NM_004565	NP_004556	O75381	PEX14_HUMAN	Homo sapiens peroxisomal biogenesis factor 14 (PEX14), mRNA.	138					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		ATCCTGGGCGGCCGAGAGGAC	0.557												
CLCNKA	1188	broad.mit.edu	37	1	16378220	16378220	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr1:16378220G>A	uc001axx.4	+	13	1449	c.1313G>A	c.(1312-1314)cGc>cAc	p.R438H	CLCNKA_uc021ogl.1_Missense_Mutation_p.R85H|CLCNKA_uc021ogm.1_Missense_Mutation_p.R269H|CLCNKA_uc001axy.4_Missense_Mutation_p.R269H	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	438					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.R438H(1)		breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GCTATCGGGCGCCTCTTTGGG	0.622												
SRRM1	10250	broad.mit.edu	37	1	24996658	24996658	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr1:24996658G>A	uc001bjm.3	+	14	2476	c.2252G>A	c.(2251-2253)cGa>cAa	p.R751Q	SRRM1_uc010oel.2_Missense_Mutation_p.R763Q|SRRM1_uc009vri.1_Missense_Mutation_p.R680Q	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	751	Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TCATCCTCCCGATCTGTCTCC	0.532												
TAL1	6886	broad.mit.edu	37	1	47685764	47685764	+	Silent	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr1:47685764G>A	uc001cqx.2	-	3	1201	c.624C>T	c.(622-624)gcC>gcT	p.A208A	TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Silent_p.A208A	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	208	Helix-loop-helix motif.				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						TGCGGAGCTCGGCAAAGGCCC	0.572			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic							
L1TD1	54596	broad.mit.edu	37	1	62675593	62675593	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr1:62675593G>A	uc021ooc.1	+	4	1582	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	L1TD1_uc001dae.4_Missense_Mutation_p.E383K	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	383	Glu-rich.							p.S382S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						AGAGTTTTCCGAGCTAGAGGA	0.488												
PPFIA4	8497	broad.mit.edu	37	1	203029484	203029484	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr1:203029484G>A	uc009xaj.3	+	26	3098	c.3098G>A	c.(3097-3099)cGc>cAc	p.R1033H	PPFIA4_uc010pqf.2_Missense_Mutation_p.R615H|PPFIA4_uc001gyz.3_Missense_Mutation_p.R402H|PPFIA4_uc001gza.3_Missense_Mutation_p.R402H|PPFIA4_uc001gzb.1_Missense_Mutation_p.R97H			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	402					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CTCAAGCTCCGCCTGGCCATT	0.612												
THNSL1	79896	broad.mit.edu	37	10	25313035	25313035	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr10:25313035C>A	uc001isi.4	+	2	1212	c.883C>A	c.(883-885)Ctg>Atg	p.L295M	ENKUR_uc001ish.1_Intron|THNSL1_uc021pol.1_Missense_Mutation_p.L295M	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	Homo sapiens threonine synthase-like 1 (S. cerevisiae) (THNSL1), mRNA.	295					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	AGCACAGATACTGTTGGAAAG	0.458												
OR52R1	119695	broad.mit.edu	37	11	4825094	4825094	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr11:4825094G>T	uc021qcs.1	-	0	517	c.517C>A	c.(517-519)Caa>Aaa	p.Q173K		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTTGGTGTTGGCAGAAGGGC	0.552												
APBB1	322	broad.mit.edu	37	11	6424912	6424912	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr11:6424912G>A	uc001mdb.1	-	2	962	c.862C>T	c.(862-864)Ccc>Tcc	p.P288S	APBB1_uc001mdd.3_Missense_Mutation_p.P68S|APBB1_uc001mdc.1_Missense_Mutation_p.P288S|APBB1_uc010rab.2_5'Flank|APBB1_uc010rad.2_5'Flank|APBB1_uc010rae.1_Missense_Mutation_p.P53S|APBB1_uc009yey.2_Missense_Mutation_p.P29S|APBB1_uc009yfa.2_Missense_Mutation_p.P29S|APBB1_uc010rag.1_Missense_Mutation_p.P29S|APBB1_uc009yfb.2_Missense_Mutation_p.P29S|APBB1_uc001mde.2_Missense_Mutation_p.P29S|APBB1_uc010rah.1_Missense_Mutation_p.P29S	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	288					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CCCTGTGAGGGGGAGGCCCGG	0.652												
OR5M1	390168	broad.mit.edu	37	11	56380529	56380529	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr11:56380529C>T	uc001nja.1	-	0	450	c.450G>A	c.(448-450)atG>atA	p.M150I	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GAAACCCATACATGTAAGGGA	0.458												
NUMA1	4926	broad.mit.edu	37	11	71717105	71717105	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr11:71717105C>T	uc001orl.1	-	21	5840	c.5668G>A	c.(5668-5670)Ggg>Agg	p.G1890R	NUMA1_uc001orj.2_Missense_Mutation_p.G72R|NUMA1_uc009ysw.1_Missense_Mutation_p.G1457R|NUMA1_uc001ork.1_Missense_Mutation_p.G754R|NUMA1_uc001orm.1_Missense_Mutation_p.G1876R	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	1890					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			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						CTGGACACCCCGGCCTGGGAA	0.592			T	RARA	APL							
ADAMTS8	11095	broad.mit.edu	37	11	130281492	130281492	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr11:130281492C>T	uc001qgg.4	-	5	1928	c.1570G>A	c.(1570-1572)Gtg>Atg	p.V524M	ADAMTS8_uc001qgf.3_Missense_Mutation_p.V5M	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	524	Disintegrin.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	p.V553M(1)|p.V524M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCATCTGCCACGGGCTGCAAC	0.577												
MLL2	8085	broad.mit.edu	37	12	49420539	49420539	+	Nonsense_Mutation	SNP	A	A	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr12:49420539A>T	uc001rta.4	-	47	15210	c.15210T>A	c.(15208-15210)taT>taA	p.Y5070*		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	5070					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.R5070*(1)|p.A5069V(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CCTGGGTCTCATACACCTCCG	0.632			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
HOXC13	3229	broad.mit.edu	37	12	54332758	54332758	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr12:54332758C>T	uc001sei.3	+	0	183	c.68C>T	c.(67-69)gCg>gTg	p.A23V		NM_017410	NP_059106	P31276	HXC13_HUMAN	Homo sapiens homeobox C13 (HOXC13), mRNA.	23						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						GAGGACAGCgcggcggagagc	0.672			T	NUP98	AML							
MMP19	4327	broad.mit.edu	37	12	56231702	56231702	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr12:56231702G>C	uc001sib.3	-	6	1106	c.985C>G	c.(985-987)Ctt>Gtt	p.L329V	MMP19_uc001sia.3_Missense_Mutation_p.L43V|MMP19_uc001sid.3_Non-coding_Transcript|MMP19_uc010spw.2_Missense_Mutation_p.P282R	NM_002429	NP_002420	Q99542	MMP19_HUMAN	Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA.	329	Hemopexin-like 1.				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						CCCTCCCAAAGGGCAGACACT	0.542												
PTPRB	5787	broad.mit.edu	37	12	70983775	70983775	+	Silent	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr12:70983775C>T	uc001swb.4	-	5	1395	c.1365G>A	c.(1363-1365)ttG>ttA	p.L455L	PTPRB_uc010sto.2_Silent_p.L455L|PTPRB_uc010stp.2_Intron|PTPRB_uc001swc.4_Silent_p.L673L|PTPRB_uc001swa.4_Silent_p.L673L|PTPRB_uc001swd.4_Silent_p.L672L|PTPRB_uc009zrr.2_Silent_p.L552L	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	455	Fibronectin type-III 5.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CAGAATTCTTCAAATTTCCAC	0.458											OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MYF6	4618	broad.mit.edu	37	12	81101567	81101567	+	Silent	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr12:81101567G>A	uc001szf.2	+	0	160	c.69G>A	c.(67-69)caG>caA	p.Q23Q		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	23					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TTACTCTGCAGCCATTAGAAG	0.517												
AACS	65985	broad.mit.edu	37	12	125591804	125591804	+	Missense_Mutation	SNP	A	A	C			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr12:125591804A>C	uc001uhc.3	+	7	1111	c.905A>C	c.(904-906)cAt>cCt	p.H302P	AACS_uc009zyg.2_Non-coding_Transcript|AACS_uc001uhd.3_Missense_Mutation_p.H302P|AACS_uc009zyh.3_Non-coding_Transcript|AACS_uc009zyi.3_5'UTR	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	302					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TGCATGGTGCATTCCGCTGGG	0.607												
CYSLTR2	57105	broad.mit.edu	37	13	49281611	49281611	+	Missense_Mutation	SNP	T	T	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr13:49281611T>A	uc010acw.1	+	1	948	c.658T>A	c.(658-660)Tgt>Agt	p.C220S	CYSLTR2_uc010acx.1_Missense_Mutation_p.C220S|CYSLTR2_uc010acy.1_Missense_Mutation_p.C220S|CYSLTR2_uc010acz.1_Missense_Mutation_p.C220S|CYSLTR2_uc010ada.1_Missense_Mutation_p.C220S|CYSLTR2_uc010adb.1_Missense_Mutation_p.C220S|CYSLTR2_uc010adc.1_Missense_Mutation_p.C220S|CYSLTR2_uc010add.1_Missense_Mutation_p.C220S|CYSLTR2_uc001vck.2_Missense_Mutation_p.C220S|CYSLTR2_uc021rjl.1_Missense_Mutation_p.C220S	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	Homo sapiens cysteinyl leukotriene receptor 2 (CYSLTR2), mRNA.	220					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	ACTCAGCATCTGTTATCTGCT	0.478												
TEX29	121793	broad.mit.edu	37	13	111995233	111995233	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr13:111995233C>A	uc001vsa.3	+	4	499	c.370C>A	c.(370-372)Cca>Aca	p.P124T		NM_152324	NP_689537	Q8N6K0	CM016_HUMAN	Homo sapiens chromosome 13 open reading frame 16 (C13orf16), mRNA.	124						integral to membrane											TCCTGGGCCTCCAAGTGCTGG	0.577												
ADPRHL1	113622	broad.mit.edu	37	13	114079397	114079397	+	Silent	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr13:114079397G>A	uc001vtq.1	-	4	831	c.744C>T	c.(742-744)ccC>ccT	p.P248P	ADPRHL1_uc001vtp.1_Silent_p.P166P	NM_138430	NP_954631	Q8NDY3	ARHL1_HUMAN	Homo sapiens ADP-ribosylhydrolase like 1 (ADPRHL1), transcript variant 1, mRNA.	248					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CATAATTGTCGGGGAAGATGG	0.438												
AARS	16	broad.mit.edu	37	16	70310471	70310471	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr16:70310471G>T	uc002eyn.1	-	3	507	c.397C>A	c.(397-399)Ctt>Att	p.L133I		NM_001605	NP_001596	P49588	SYAC_HUMAN	Homo sapiens alanyl-tRNA synthetase (AARS), mRNA.	133					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GTAACATAAAGTCTTTCAATG	0.428												
MLYCD	23417	broad.mit.edu	37	16	83933176	83933176	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr16:83933176C>G	uc002fgz.3	+	0	447	c.427C>G	c.(427-429)Cac>Gac	p.H143D		NM_012213	NP_036345	O95822	DCMC_HUMAN	Homo sapiens malonyl-CoA decarboxylase (MLYCD), nuclear gene encoding mitochondrial protein, mRNA.	143					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CCTCTTCCACCACATCAGCAA	0.731												
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr17:7577094G>A	uc002gim.2	-	7	1038	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(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)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)		
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr17:7578263G>A	uc002gim.2	-	5	780	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.3_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.2_Nonsense_Mutation_p.R157*|DL476358_uc021tph.1_Non-coding_Transcript	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; 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.R196*(312)|p.I195T(67)|p.I195F(18)|p.R196P(14)|p.R64*(14)|p.R103*(14)|p.I195N(12)|p.R196fs*51(12)|p.R196R(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.I195S(6)|p.?(5)|p.P191_E198>Q(4)|p.I195fs*52(4)|p.I195fs*14(4)|p.R196Q(3)|p.I195fs*12(2)|p.I195fs*50(2)|p.I195_G199delIRVEG(2)|p.K164_P219del(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195M(1)|p.R196L(1)|p.P98_E105>Q(1)|p.I195L(1)|p.H193_I195>AP(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)		CCTTCCACTCGGATAAGATGC	0.552		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)		
CACNA1G	8913	broad.mit.edu	37	17	48703853	48703854	+	Frame_Shift_Ins	INS	-	-	C			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr17:48703853_48703854insC	uc002irk.1	+	37	7247_7248	c.6875_6876insC	c.(6874-6876)ggcfs	p.G2292fs	CACNA1G_uc002irj.1_Frame_Shift_Ins_p.G2086fs|CACNA1G_uc002irl.1_Frame_Shift_Ins_p.G2176fs|CACNA1G_uc002irm.1_Frame_Shift_Ins_p.G2213fs|CACNA1G_uc002irn.1_Frame_Shift_Ins_p.G2158fs|CACNA1G_uc002iro.1_Frame_Shift_Ins_p.G2165fs|CACNA1G_uc002irp.1_Frame_Shift_Ins_p.G2247fs|CACNA1G_uc002irq.1_Frame_Shift_Ins_p.G2269fs|CACNA1G_uc002irr.1_Frame_Shift_Ins_p.G2199fs|CACNA1G_uc002irs.1_Frame_Shift_Ins_p.G2236fs|CACNA1G_uc002irt.1_Frame_Shift_Ins_p.G2181fs|CACNA1G_uc002iru.1_Frame_Shift_Ins_p.G2258fs|CACNA1G_uc002irv.1_Frame_Shift_Ins_p.G2188fs|CACNA1G_uc002irw.1_Frame_Shift_Ins_p.G2221fs|CACNA1G_uc002irx.1_Frame_Shift_Ins_p.G2033fs|CACNA1G_uc002iry.1_Frame_Shift_Ins_p.G2022fs|CACNA1G_uc002isg.1_Frame_Shift_Ins_p.G2060fs|CACNA1G_uc002ish.1_Frame_Shift_Ins_p.G2067fs|CACNA1G_uc002isi.1_Frame_Shift_Ins_p.G2055fs|CACNA1G_uc002irz.1_Frame_Shift_Ins_p.G2105fs|CACNA1G_uc002isa.1_Frame_Shift_Ins_p.G2078fs|CACNA1G_uc002isd.1_Frame_Shift_Ins_p.G2087fs|CACNA1G_uc002isb.1_Frame_Shift_Ins_p.G2119fs|CACNA1G_uc002isc.1_Frame_Shift_Ins_p.G2194fs|CACNA1G_uc002ise.1_Frame_Shift_Ins_p.G2115fs|CACNA1G_uc002isf.1_Frame_Shift_Ins_p.G2142fs	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	2292					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AACCTTGGGGGCCAGCCTCTTG	0.653											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PPM1D	8493	broad.mit.edu	37	17	58711271	58711271	+	Silent	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr17:58711271C>T	uc002iyt.2	+	2	991	c.759C>T	c.(757-759)caC>caT	p.H253H	PPM1D_uc010ddm.2_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	253	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GACTCACTCACAATGGACCTG	0.363												
EMILIN2	84034	broad.mit.edu	37	18	2847912	2847912	+	Silent	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr18:2847912C>T	uc002kln.3	+	1	399	c.240C>T	c.(238-240)ccC>ccT	p.P80P		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	80	EMI.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		ACCAGATGCCCTGTCCGTCGG	0.662												
ANKRD20A5P	440482	broad.mit.edu	37	18	14183719	14183719	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr18:14183719G>T	uc010xag.2	+	1	570	c.272G>T	c.(271-273)tGc>tTc	p.C91F	ANKRD20A5P_uc002ksw.2_Non-coding_Transcript|ANKRD20A5P_uc002ksv.2_5'Flank					Homo sapiens ankyrin repeat domain 20 family, member A5, pseudogene (ANKRD20A5P), non-coding RNA.											lung(3)	3						AACAGAAAATGCCAGATTGAT	0.393												
TCEB3C	162699	broad.mit.edu	37	18	44554653	44554653	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr18:44554653G>A	uc010xdb.2	-	0	1797	c.1561C>T	c.(1561-1563)Cga>Tga	p.R521*	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GCCTGTTTTCGGGTTTTGTcc	0.652												
TET3	200424	broad.mit.edu	37	2	74274539	74274539	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr2:74274539C>T	uc002skb.4	+	0	1090	c.1090C>T	c.(1090-1092)Ccg>Tcg	p.P364S	TET3_uc010fez.2_Missense_Mutation_p.P364S	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	364							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCTTCCTCCCCGGCCCCGGC	0.652												
FAM123C	205147	broad.mit.edu	37	2	131521195	131521195	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr2:131521195C>T	uc021voy.1	+	0	1550	c.1550C>T	c.(1549-1551)aCg>aTg	p.T517M	FAM123C_uc002trw.2_Missense_Mutation_p.T517M|FAM123C_uc010fmv.2_Missense_Mutation_p.T517M|FAM123C_uc010fms.1_Missense_Mutation_p.T517M|FAM123C_uc010fmt.1_Missense_Mutation_p.T517M|FAM123C_uc010fmu.1_Missense_Mutation_p.T517M	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	517										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CGAGGCCCCACGCCCCGTGCC	0.687												
THSD7B	80731	broad.mit.edu	37	2	137988713	137988713	+	Missense_Mutation	SNP	C	C	T	rs61741154		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr2:137988713C>T	uc002tva.1	+	6	1730	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.T467M	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.T608M(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGCGAGTGGACGGAGTGGTCA	0.517												
XIRP2	129446	broad.mit.edu	37	2	168101235	168101235	+	Silent	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr2:168101235G>A	uc002udx.3	+	8	3422	c.3333G>A	c.(3331-3333)tcG>tcA	p.S1111S	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.S936S|XIRP2_uc010fpq.3_Silent_p.S889S|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	936					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAAAGTTTCGTTAATGACCA	0.368												
TTN	7273	broad.mit.edu	37	2	179647001	179647001	+	Silent	SNP	G	G	A	rs141768043		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr2:179647001G>A	uc021vsy.1	-	19	3543	c.3318C>T	c.(3316-3318)ggC>ggT	p.G1106G	TTN_uc021vsz.1_Silent_p.G1060G|TTN_uc021vta.1_Silent_p.G1060G|TTN_uc021vtb.1_Silent_p.G1060G|TTN_uc002unb.2_Silent_p.G1106G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1106	Ig-like 4.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGGTTGCCGCCAACTTGGC	0.488												
BPIFA2	140683	broad.mit.edu	37	20	31760743	31760743	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr20:31760743C>A	uc002wyo.1	+	2	234	c.163C>A	c.(163-165)Ctt>Att	p.L55I		NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN	Homo sapiens BPI fold containing family A, member 2 (BPIFA2), mRNA.	55						extracellular region	lipid binding										GGCAGGCATCCTTGAGAAACT	0.483												
TRPC4AP	26133	broad.mit.edu	37	20	33591328	33591328	+	Missense_Mutation	SNP	C	C	T	rs146813768		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr20:33591328C>T	uc002xbk.3	-	17	2175	c.2141G>A	c.(2140-2142)cGg>cAg	p.R714Q	TRPC4AP_uc002xbj.3_Non-coding_Transcript|TRPC4AP_uc010zuq.2_Missense_Mutation_p.R305Q|TRPC4AP_uc010zur.2_Missense_Mutation_p.R675Q|TRPC4AP_uc002xbl.3_Missense_Mutation_p.R706Q	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 associated protein (TRPC4AP), transcript variant 1, mRNA.	714					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GTGCTCCATCCGCTGCAGCAG	0.612												
TSHZ2	128553	broad.mit.edu	37	20	51870234	51870234	+	Silent	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr20:51870234C>T	uc002xwo.3	+	1	1124	c.237C>T	c.(235-237)gcC>gcT	p.A79A	TSHZ2_uc021wex.1_Silent_p.A76A	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	79					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D78N(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ATCAGGATGCCGAGAACGAGT	0.537												
MC3R	4159	broad.mit.edu	37	20	54824418	54824418	+	Silent	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr20:54824418C>T	uc002xxb.2	+	0	631	c.519C>T	c.(517-519)ggC>ggT	p.G173G		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	210					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TCTGCTGCGGCGTCTGTGGCG	0.562												
BAGE	85319	broad.mit.edu	37	21	11058294	11058294	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr21:11058294G>A	uc002yiu.1	-	2					BAGE_uc002yit.1_Missense_Mutation_p.P49L|BAGE_uc002yiv.1_3'UTR|BAGE_uc002yiw.1_Non-coding_Transcript	NM_182484	NP_872290	Q13072	BAGE1_HUMAN	Homo sapiens B melanoma antigen family, member 5 (BAGE5), mRNA.							extracellular region								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATTTGATAGTGGCTCCAAAGT	0.403												
ACR	49	broad.mit.edu	37	22	51183292	51183292	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr22:51183292G>A	uc003bnh.4	+	4	935	c.923G>A	c.(922-924)cGa>cAa	p.R308Q		NM_001097	NP_001088	P10323	ACRO_HUMAN	Homo sapiens acrosin (ACR), mRNA.	308					acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		CCCACCACTCGACCGCCCCCG	0.602												
METTL6	131965	broad.mit.edu	37	3	15468122	15468122	+	Translation_Start_Site	SNP	C	C	T	rs140376877	by1000genomes	TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr3:15468122C>T	uc003bzs.1	-	1					METTL6_uc011avp.1_5'UTR|METTL6_uc003bzt.1_5'UTR|EAF1_uc003bzu.3_5'Flank|EAF1_uc011avq.2_5'Flank	NM_152396	NP_689609	Q8TCB7	METL6_HUMAN	Homo sapiens methyltransferase like 6 (METTL6), mRNA.								methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						GTGAGTTTCACGCCTCAAACA	0.418												
TIPARP	25976	broad.mit.edu	37	3	156422618	156422618	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr3:156422618A>G	uc003fav.3	+	5	2094	c.1672A>G	c.(1672-1674)Atg>Gtg	p.M558V	TIPARP_uc003faw.3_Missense_Mutation_p.M558V|TIPARP_uc021xgg.1_Missense_Mutation_p.M558V	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	Homo sapiens TCDD-inducible poly(ADP-ribose) polymerase (TIPARP), transcript variant 2, mRNA.	558	PARP catalytic.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GCATGCTACAATGTTTGGACA	0.408												
VPS8	23355	broad.mit.edu	37	3	184648300	184648300	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr3:184648300G>A	uc021xik.1	+	32	2930	c.2842G>A	c.(2842-2844)Gga>Aga	p.G948R	VPS8_uc003fpb.1_Missense_Mutation_p.G946R|VPS8_uc010hyd.1_Missense_Mutation_p.G856R|VPS8_uc010hye.1_Missense_Mutation_p.G375R	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	948							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			ATCCATTCCCGGACACAGTGC	0.393												
CABS1	85438	broad.mit.edu	37	4	71201281	71201281	+	Silent	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr4:71201281C>T	uc003hff.3	+	0	611	c.525C>T	c.(523-525)gaC>gaT	p.D175D	CABS1_uc021xoz.1_Silent_p.D175D	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	Homo sapiens calcium-binding protein, spermatid-specific 1 (CABS1), mRNA.	175						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GTGTTGCTGACGCTCCTGCCT	0.463												
FGG	2266	broad.mit.edu	37	4	155528020	155528020	+	Silent	SNP	G	G	A	rs146218442		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr4:155528020G>A	uc003ioj.3	-	7	1107	c.966C>T	c.(964-966)ggC>ggT	p.G322G	FGG_uc003iog.3_Silent_p.G322G	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	322	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TAGGATCATCGCCAAAATCAA	0.473												
NKD2	85409	broad.mit.edu	37	5	1033572	1033572	+	Silent	SNP	C	C	G			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr5:1033572C>G	uc003jbt.1	+	4	293	c.288C>G	c.(286-288)cgC>cgG	p.R96R	NKD2_uc010itf.1_Silent_p.R96R	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	Homo sapiens naked cuticle homolog 2 (Drosophila) (NKD2), mRNA.	96	Targeting to the basolateral cell membrane.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			CAGCAAACCGCGAGGGCCCGC	0.692												
PCDHGC5	56103	broad.mit.edu	37	5	140741624	140741624	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr5:140741624G>A	uc003ljs.2	+	0	1922	c.1922G>A	c.(1921-1923)cGc>cAc	p.R641H	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Missense_Mutation_p.R641H|PCDHGC5_uc011das.2_5'Flank	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	643	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCGCCAGCGCCTGCTGGTC	0.687												
KIF4B	285643	broad.mit.edu	37	5	154396976	154396976	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr5:154396976C>A	uc010jih.1	+	0	3717	c.3557C>A	c.(3556-3558)gCt>gAt	p.A1186D		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	1186	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTGCTCCAGCTCCCTCCCCT	0.493												
DUSP22	56940	broad.mit.edu	37	6	335117	335117	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr6:335117G>T	uc003msx.3	+	3	581	c.142G>T	c.(142-144)Gtt>Ttt	p.V48F	DUSP22_uc011dhn.1_Missense_Mutation_p.V48F|DUSP22_uc003msy.1_Missense_Mutation_p.V5F	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA.	48					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TCTGCAGGGAGTTAAATACCT	0.299												
HFE	3077	broad.mit.edu	37	6	26091215	26091215	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr6:26091215G>A	uc003nfx.1	+	1	383	c.223G>A	c.(223-225)Gtt>Att	p.V75I	HFE_uc003nfy.1_Missense_Mutation_p.V52I|HFE_uc010jqe.1_Missense_Mutation_p.V75I|HFE_uc003nfz.1_Intron|HFE_uc003ngd.1_Intron|HFE_uc003nga.1_Missense_Mutation_p.V75I|HFE_uc003ngb.1_Missense_Mutation_p.V75I|HFE_uc003ngc.1_Missense_Mutation_p.V75I|HFE_uc003nge.1_Intron|HFE_uc003ngf.1_Intron|HFE_uc021yms.1_5'Flank	NM_000410	NP_000401	Q30201	HFE_HUMAN	Homo sapiens hemochromatosis (HFE), transcript variant 1, mRNA.	75	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AACTCCATGGGTTTCCAGTAG	0.488									Hemochromatosis			
C6orf170	221322	broad.mit.edu	37	6	121625568	121625568	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr6:121625568C>T	uc003pyo.1	-	7	946	c.878G>A	c.(877-879)cGt>cAt	p.R293H	C6orf170_uc003pyq.1_Non-coding_Transcript	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	293					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		ATTTAGAAGACGAACCTACAA	0.358												
RBAK	57786	broad.mit.edu	37	7	5097035	5097035	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr7:5097035G>A	uc021zzc.1	+	2	307	c.125G>A	c.(124-126)aGc>aAc	p.S42N	RBAK_uc003snr.3_Missense_Mutation_p.S42N|RBAK_uc010kss.1_Missense_Mutation_p.S42N|RBAK_uc003sns.1_Missense_Mutation_p.S42N	NM_001204513	NP_001191442	Q9NYW8	RBAK_HUMAN	Homo sapiens RBAK-LOC389458 readthrough (RBAK-LOC389458), mRNA.	42	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GAGAACTATAGCCATCTAGTT	0.433												
MGAM	8972	broad.mit.edu	37	7	141759688	141759688	+	Silent	SNP	T	T	C			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr7:141759688T>C	uc003vwy.3	+	32	4035	c.3981T>C	c.(3979-3981)ccT>ccC	p.P1327P		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1327	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.P1327P(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGACACAGCCTTATCCTGCCT	0.463												
PDGFRL	5157	broad.mit.edu	37	8	17447275	17447275	+	Splice_Site	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr8:17447275G>A	uc003wxr.3	+	3	798	c.353_splice	c.e3+1	p.S118_splice		NM_006207	NP_006198	Q15198	PGFRL_HUMAN	Homo sapiens platelet-derived growth factor receptor-like (PDGFRL), mRNA.	118	Ig-like C2-type 1.					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		CTCGCCTCAGGTAAGCATTTT	0.403												
RANBP6	26953	broad.mit.edu	37	9	6014248	6014248	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr9:6014248G>T	uc003zjr.3	-	0	1393	c.1360C>A	c.(1360-1362)Ctg>Atg	p.L454M	RANBP6_uc011lmf.2_Missense_Mutation_p.L102M|RANBP6_uc003zjs.3_3'UTR	NM_012416	NP_036548	O60518	RNBP6_HUMAN	Homo sapiens RAN binding protein 6 (RANBP6), transcript variant 1, mRNA.	454					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GTACGTAACAGAGCTGCAATC	0.413												
PLIN2	123	broad.mit.edu	37	9	19120899	19120899	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr9:19120899G>A	uc003zno.3	-	4	784	c.574C>T	c.(574-576)Cct>Tct	p.P192S	PLIN2_uc011lna.2_Missense_Mutation_p.P164S|PLIN2_uc011lnb.2_Intron	NM_001122	NP_001113	Q99541	PLIN2_HUMAN	Homo sapiens perilipin 2 (PLIN2), transcript variant 1, mRNA.	192					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						TCAGTGAGAGGGAGGTACTGT	0.403												
TMOD1	7111	broad.mit.edu	37	9	100353675	100353675	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr9:100353675C>T	uc004axl.2	+	8	1109	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	TMOD1_uc004axk.2_Missense_Mutation_p.R325W	NM_001166116	NP_003266	P28289	TMOD1_HUMAN	Homo sapiens tropomodulin 1 (TMOD1), transcript variant 2, mRNA.	325					muscle filament sliding	cytosol	actin binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		GCAAGGACCCCGGCTTCGGGC	0.512												
SLC44A1	23446	broad.mit.edu	37	9	108110683	108110683	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr9:108110683A>G	uc004bcn.3	+	4	672	c.451A>G	c.(451-453)Aca>Gca	p.T151A		NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	Homo sapiens solute carrier family 44, member 1 (SLC44A1), mRNA.	151						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TGAATACACTACATCTCCAAA	0.373												
CELP	1057	broad.mit.edu	37	9	135961760	135961760	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr9:135961760G>C	uc011mcu.1	+	3	595	c.502G>C	c.(502-504)Gcc>Ccc	p.A168P						Homo sapiens carboxyl ester lipase pseudogene (CELP), non-coding RNA.																		GGAGCCCTTTGCCACCCCACT	0.577												
MED22	6837	broad.mit.edu	37	9	136211100	136211100	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr9:136211100A>G	uc004cdc.3	-	3	527	c.293T>C	c.(292-294)aTt>aCt	p.I98T	MED22_uc004cdd.3_Missense_Mutation_p.I98T	NM_133640	NP_598395	Q15528	MED22_HUMAN	Homo sapiens mediator complex subunit 22 (MED22), transcript variant b, mRNA.	98					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding	p.A97V(1)		endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		GCGCTGGTCAATGGCCTCGTT	0.602												
CFP	5199	broad.mit.edu	37	X	47486279	47486279	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chrX:47486279G>T	uc004dih.3	-	6	1075	c.833C>A	c.(832-834)aCc>aAc	p.T278N	CFP_uc004dig.4_Missense_Mutation_p.T278N|CFP_uc004dii.1_Missense_Mutation_p.T214N|CFP_uc010nhu.2_Missense_Mutation_p.T278N	NM_002621	NP_002612	P27918	PROP_HUMAN	Homo sapiens complement factor properdin (CFP), transcript variant 1, mRNA.	278	TSP type-1 4.				complement activation, alternative pathway|defense response to bacterium	extracellular space		p.Q277H(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						TTGTTCCATGGTCTGGCCCAG	0.662												
SLC35A2	7355	broad.mit.edu	37	X	48762551	48762552	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chrX:48762551_48762552delGA	uc011mmm.1	-	4	1040_1041	c.718_719delTC	c.(718-720)tccfs	p.S240fs	SLC35A2_uc004dlo.1_Frame_Shift_Del_p.S212fs|SLC35A2_uc011mml.1_Frame_Shift_Del_p.S225fs|SLC35A2_uc004dlp.1_Frame_Shift_Del_p.S212fs|SLC35A2_uc011mmn.1_Frame_Shift_Del_p.S151fs|SLC35A2_uc004dlq.3_Intron|SLC35A2_uc004dlr.1_Intron	NM_001042498	NP_001035963	P78381	S35A2_HUMAN	Homo sapiens solute carrier family 35 (UDP-galactose transporter), member A2 (SLC35A2), transcript variant 3, mRNA.	212					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GAAGCCGGAGGAGAGACAGGAG	0.649												
ITIH6	347365	broad.mit.edu	37	X	54777770	54777770	+	Silent	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chrX:54777770C>T	uc004dtj.2	-	11	3426	c.3396G>A	c.(3394-3396)ccG>ccA	p.P1132P		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	1132					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										CCTTGTGGCCCGGCCTTGGTG	0.572												
DCAF12L1	139170	broad.mit.edu	37	X	125685588	125685588	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chrX:125685588C>T	uc022cds.1	-	0	1004	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	DCAF12L1_uc004eul.3_Missense_Mutation_p.R335H	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	335										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTGGTCCTGGCGCAGATCCAG	0.597												
MAGEA10	4109	broad.mit.edu	37	X	151303380	151303380	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chrX:151303380C>T	uc022cgz.1	-	0	713	c.713G>A	c.(712-714)gGc>gAc	p.G238D	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.G238D|MAGEA10_uc004ffm.2_Missense_Mutation_p.G238D|MAGEA10_uc004ffl.3_Missense_Mutation_p.G238D	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	238	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGCAGTAGCCCTCTATGAA	0.527												
