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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_by_all_platform	validation_method	validation_tumor_sample
NOC2L	26155	broad.mit.edu	37	1	880925	880925	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:880925C>T	uc001abz.3	-	17	2085	c.2026G>A	c.(2026-2028)GAC>AAC	p.D676N	NOC2L_uc001aby.3_Missense_Mutation_p.D473N|NOC2L_uc009vjq.2_Missense_Mutation_p.D676N	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog	676	Asp/Glu-rich (acidic).					nucleolus	protein binding			ovary(1)|skin(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCGGTGTCGTCCTCTTCAGAG	0.577		NaN											0	0	0	0.012319	0	21	51				
TP73	7161	broad.mit.edu	37	1	3624302	3624302	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:3624302C>T	uc001akp.2	+	4	486	c.376C>T	c.(376-378)CAC>TAC	p.H126Y	TP73_uc001akq.2_Missense_Mutation_p.H126Y|TP73_uc010nzj.1_Missense_Mutation_p.H77Y|TP73_uc001akr.2_Missense_Mutation_p.H77Y|TP73_uc009vlk.1_Missense_Mutation_p.H77Y|TP73_uc001aks.2_Missense_Mutation_p.H77Y|TP73_uc009vll.2_Missense_Mutation_p.H55Y|TP73_uc010nzk.1_Missense_Mutation_p.H55Y	NM_005427	NP_005418	O15350	P73_HUMAN	tumor protein p73 isoform a	126					cellular response to UV|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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			ovary(1)|lung(1)	2	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CGGACCCCACCACTTTGAGGT	0.557		NaN											0	0	0	0.00499	0	16	59				
TNFRSF25	8718	broad.mit.edu	37	1	6524508	6524508	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:6524508G>A	uc001ane.2	-	5	557	c.469C>T	c.(469-471)CGC>TGC	p.R157C	TNFRSF25_uc001ana.2_Intron|TNFRSF25_uc001anb.2_RNA|TNFRSF25_uc001anc.2_RNA|TNFRSF25_uc001and.2_5'UTR|TNFRSF25_uc009vlz.2_Intron|TNFRSF25_uc001anf.2_Missense_Mutation_p.R157C|TNFRSF25_uc001ang.2_Missense_Mutation_p.R112C|TNFRSF25_uc001anh.2_Missense_Mutation_p.R157C|TNFRSF25_uc001ani.1_Missense_Mutation_p.R157C	NM_003790	NP_003781	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily,	157	TNFR-Cys 3.|Extracellular (Potential).				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(2)|breast(1)	3	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		GTATCTCTGCGGGAACCTGCA	0.607		NaN											0	0	0	0.013537	0	11	6				
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	C	G	rs58074988		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:12887606C>G	uc001auk.2	-	3	447	c.251G>C	c.(250-252)TGC>TCC	p.C84S		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	PRAME family member 11	84											0						ATTGAGGAAGCACCCATGGGC	0.483		NaN											0	0	0	0.014758	0	4	356				
PRAMEF11	440560	broad.mit.edu	37	1	12887612	12887612	+	Missense_Mutation	SNP	T	T	C	rs60558629		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:12887612T>C	uc001auk.2	-	3	441	c.245A>G	c.(244-246)CAT>CGT	p.H82R		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	PRAME family member 11	82											0						GAAGCACCCATGGGCCATAGC	0.488		NaN											0	0	0	0.001168	0	5	358				
PRDM2	7799	broad.mit.edu	37	1	14106203	14106203	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:14106203A>G	uc001avi.2	+	8	2769	c.1913A>G	c.(1912-1914)AAG>AGG	p.K638R	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.K638R|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.K395R|PRDM2_uc001avk.2_Missense_Mutation_p.K437R|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	638						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAGGCCAAGAAGCGGAGAACT	0.473		NaN											0	0	0	0.001984	0	7	29				
EPHA2	1969	broad.mit.edu	37	1	16475491	16475491	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:16475491C>A	uc001aya.1	-	3	342	c.205G>T	c.(205-207)GTG>TTG	p.V69L	EPHA2_uc010oca.1_Missense_Mutation_p.V69L	NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	69	Extracellular (Potential).				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		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;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ACGTTGCACACGGAGTACATG	0.537		NaN											1	0	2.55665e-31	0.01441	2.99182e-31	44	42				
RCC2	55920	broad.mit.edu	37	1	17738662	17738662	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:17738662C>T	uc001bal.2	-	10	1389	c.1342G>A	c.(1342-1344)GAG>AAG	p.E448K	RCC2_uc001bam.2_Missense_Mutation_p.E448K	NM_001136204	NP_001129676	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	448	RCC1 7.				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle					0		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		ATGGTGCTCTCATCGGCGGCC	0.622		NaN											0	0	0	0.009718	0	39	40				
ACTL8	81569	broad.mit.edu	37	1	18152535	18152535	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:18152535C>T	uc001bat.2	+	3	838	c.622C>T	c.(622-624)CAG>TAG	p.Q208*		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	actin-like 8	208						cytoplasm|cytoskeleton				ovary(4)	4		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CGCCGTGACTCAGATGAACAA	0.562		NaN									OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.009535	0	32	17				
TMCO4	255104	broad.mit.edu	37	1	20107204	20107204	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:20107204C>T	uc001bcn.2	-	4	290	c.48G>A	c.(46-48)CTG>CTA	p.L16L	TMCO4_uc001bcm.2_Silent_p.L16L|TMCO4_uc001bco.1_Silent_p.L16L|TMCO4_uc001bcp.1_Silent_p.L16L|TMCO4_uc009vpn.1_Silent_p.L16L|TMCO4_uc001bcq.1_Silent_p.L16L	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	16						integral to membrane					0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GCTCAGCTACCAGAGGCTGCT	0.532		NaN											0	0	0	0.010504	0	19	18				
HSPG2	3339	broad.mit.edu	37	1	22165877	22165877	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:22165877G>A	uc001bfj.2	-	73	9916	c.9876C>T	c.(9874-9876)ATC>ATT	p.I3292I	HSPG2_uc009vqd.2_Silent_p.I3293I	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	3292	Ig-like C2-type 18.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCACGTGCAGGATGATGGTGG	0.597		NaN											0	0	0	0.015359	0	32	24				
ASAP3	55616	broad.mit.edu	37	1	23782407	23782407	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:23782407G>A	uc001bha.2	-	3	439	c.315C>T	c.(313-315)TTC>TTT	p.F105F	ASAP3_uc010odz.1_5'UTR|ASAP3_uc010oea.1_Silent_p.F105F|ASAP3_uc001bhc.1_Silent_p.F105F	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	105					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						CCTCGCGGGTGAACACGGCCA	0.557		NaN											0	0	0	0.01441	0	93	46				
GALE	2582	broad.mit.edu	37	1	24124627	24124627	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:24124627C>G	uc009vqo.1	-	4	541	c.331G>C	c.(331-333)GGG>CGG	p.G111R	GALE_uc001bhv.1_Missense_Mutation_p.G111R|GALE_uc001bhw.1_Missense_Mutation_p.G111R|GALE_uc001bhx.1_Missense_Mutation_p.G111R|GALE_uc009vqp.1_Missense_Mutation_p.G111R|GALE_uc001bhy.1_Missense_Mutation_p.G111R|GALE_uc001bhz.1_Missense_Mutation_p.G37R|GALE_uc001bia.2_5'Flank|GALE_uc009vqq.1_3'UTR	NM_001127621	NP_001121093	Q14376	GALE_HUMAN	UDP-galactose-4-epimerase	111					galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity				0		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TGGATGGTCCCGGTCAGGTTA	0.592		NaN											0	0	0	0.010729	0	10	109				
C1orf130	400746	broad.mit.edu	37	1	24932122	24932122	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:24932122G>A	uc001bjk.1	+	4	259	c.193G>A	c.(193-195)GAG>AAG	p.E65K		NM_001010980	NP_001010980	Q5T1S8	CA130_HUMAN	chromosome 1 open reading frame 130	65						integral to membrane					0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0119)|all_lung(284;0.0154)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0439)|OV - Ovarian serous cystadenocarcinoma(117;1.48e-24)|Colorectal(126;6.93e-08)|COAD - Colon adenocarcinoma(152;3.69e-06)|GBM - Glioblastoma multiforme(114;0.00036)|BRCA - Breast invasive adenocarcinoma(304;0.00189)|KIRC - Kidney renal clear cell carcinoma(1967;0.00382)|STAD - Stomach adenocarcinoma(196;0.00521)|READ - Rectum adenocarcinoma(331;0.0659)|Lung(427;0.144)		GCGGGAACTAGAGCCCAAGGG	0.587		NaN											0	0	0	0.01441	0	51	29				
C1orf135	79000	broad.mit.edu	37	1	26161564	26161564	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:26161564C>T	uc001bkw.1	-	3	994	c.994G>A	c.(994-996)GGG>AGG	p.G332R		NM_024037	NP_076942	Q9H7T9	CA135_HUMAN	aurora A-binding protein	332											0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00521)|all_lung(284;0.00764)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.117)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.28e-25)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000787)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGTTGGCCCATCCTCCTGG	0.443		NaN											0	0	0	0.017118	0	35	492				
LIN28A	79727	broad.mit.edu	37	1	26752761	26752761	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:26752761C>T	uc001bmj.2	+	4	556	c.442C>T	c.(442-444)CAT>TAT	p.H148Y	LIN28A_uc001bmi.1_RNA	NM_024674	NP_078950	Q9H9Z2	LN28A_HUMAN	lin-28 homolog	148	CCHC-type 1.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)	1						TCTAGATCATCATGCCAAGGA	0.423		NaN											0	0	0	0.01892	0	21	65				
SFN	2810	broad.mit.edu	37	1	27189796	27189796	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:27189796G>C	uc001bnc.1	+	1	164	c.93G>C	c.(91-93)GAG>GAC	p.E31D	uc010ofi.1_RNA	NM_006142	NP_006133	P31947	1433S_HUMAN	stratifin	31					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity				0		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		GCGCCGTGGAGAAGGGCGAGG	0.607		NaN											0	0	0	0.013537	0	13	114				
FAM46B	115572	broad.mit.edu	37	1	27332436	27332436	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:27332436C>G	uc010ofj.1	-	2	1449	c.1277G>C	c.(1276-1278)TGA>TCA	p.*426S		NM_052943	NP_443175	Q96A09	FA46B_HUMAN	hypothetical protein LOC115572	426										central_nervous_system(1)	1		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		GGGTCTGAGTCAGTTACAAGG	0.622		NaN											0	0	0	0.01441	0	81	54				
XKR8	55113	broad.mit.edu	37	1	28290197	28290197	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:28290197C>T	uc001bph.1	+	2	560	c.483C>T	c.(481-483)TAC>TAT	p.Y161Y		NM_018053	NP_060523	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related	161	Helical; (Potential).					integral to membrane					0		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		GGGCTGAGTACTACCAGTGTG	0.567		NaN											0	0	0	0.010729	0	12	4				
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800272	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:28800272T>C	uc001bpw.2	+	7	1312	c.1030T>C	c.(1030-1032)TCC>CCC	p.S344P	PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Missense_Mutation_p.S328P|PHACTR4_uc001bpy.2_Missense_Mutation_p.S354P	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4 isoform 1	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACT	0.512		NaN											0	0	0	0.014758	0	4	301				
YTHDF2	51441	broad.mit.edu	37	1	29095440	29095440	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:29095440G>A	uc001brc.2	+	5	2214	c.1717_splice	c.e5-1	p.E573_splice	YTHDF2_uc001brd.2_Splice_Site_p.E570_splice|YTHDF2_uc010ofx.1_Splice_Site_p.E523_splice|YTHDF2_uc001bre.2_Splice_Site_p.E523_splice	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN	high glucose-regulated protein 8						humoral immune response					ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TACCTCTGTAGGAACGTCAAG	0.328		NaN											0	0	0	0.001168	0	5	20				
CSMD2	114784	broad.mit.edu	37	1	34238233	34238233	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:34238233C>G	uc001bxn.1	-	13	1692	c.1663G>C	c.(1663-1665)GGA>CGA	p.G555R	CSMD2_uc001bxm.1_Missense_Mutation_p.G595R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	555	Sushi 3.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCCTTCTGTCCCACCAGCTCA	0.577		NaN											0	0	0	0.001168	0	5	101				
CAP1	10487	broad.mit.edu	37	1	40525754	40525754	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:40525754A>G	uc001cfa.3	+	3	357	c.128A>G	c.(127-129)TAT>TGT	p.Y43C	CAP1_uc010ojd.1_RNA|CAP1_uc001cey.3_Missense_Mutation_p.Y43C|CAP1_uc001cez.3_Missense_Mutation_p.Y43C|CAP1_uc009vvz.2_Missense_Mutation_p.Y43C|CAP1_uc010oje.1_Missense_Mutation_p.M13V	NM_006367	NP_006358	Q01518	CAP1_HUMAN	adenylyl cyclase-associated protein	43					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			ovary(1)	1	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCAGCTCCATATGTGCAGGCA	0.458		NaN											0	0	0	0.016522	0	22	26				
KIAA0494	9813	broad.mit.edu	37	1	47181986	47181986	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:47181986G>A	uc001cqk.3	-	2	1292	c.315C>T	c.(313-315)CTC>CTT	p.L105L	KIAA0494_uc010omh.1_Silent_p.L105L|KIAA0494_uc001cql.1_Silent_p.L105L	NM_014774	NP_055589	O75071	K0494_HUMAN	hypothetical protein LOC9813	105							calcium ion binding				0	Acute lymphoblastic leukemia(166;0.155)					ATTTTTCCTTGAGGGCATCCA	0.338		NaN											0	0	0	0.008291	0	11	27				
LEPR	3953	broad.mit.edu	37	1	66102578	66102578	+	Silent	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:66102578T>C	uc001dci.2	+	20	3580	c.3378T>C	c.(3376-3378)AAT>AAC	p.N1126N	LEPR_uc009waq.2_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	1126	Cytoplasmic (Potential).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TTGTAGAAAATAATATCAACT	0.403		NaN											0	0	0	0.001168	0	5	22				
ANKRD34A	284615	broad.mit.edu	37	1	145474162	145474162	+	Silent	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:145474162G>T	uc001enq.1	+	4	2127	c.834G>T	c.(832-834)CTG>CTT	p.L278L	NBPF10_uc001emp.3_Intron|LIX1L_uc001enr.2_5'Flank	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34	278	Pro-rich.										0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCAATGGCCTGACCCTGACCG	0.652		NaN											1	0	7.41877e-09	0.012319	8.30601e-09	22	41				
UBAP2L	9898	broad.mit.edu	37	1	154224128	154224128	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:154224128A>G	uc001fep.3	+	14	1830	c.1663A>G	c.(1663-1665)AGT>GGT	p.S555G	UBAP2L_uc009wot.2_Missense_Mutation_p.S555G|UBAP2L_uc010pek.1_Missense_Mutation_p.S547G|UBAP2L_uc010pel.1_Missense_Mutation_p.S565G|UBAP2L_uc010pen.1_Missense_Mutation_p.S469G	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	555					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGCACGGCCAGGTAGAGGAA	0.493		NaN											0	0	0	0.010818	0	31	225				
LMNA	4000	broad.mit.edu	37	1	156100457	156100457	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:156100457G>A	uc001fni.2	+	2	655	c.406G>A	c.(406-408)GAC>AAC	p.D136N	LMNA_uc001fnf.1_Missense_Mutation_p.D136N|LMNA_uc001fng.2_Missense_Mutation_p.D136N|LMNA_uc001fnh.2_Missense_Mutation_p.D136N|LMNA_uc009wro.1_Missense_Mutation_p.D136N|LMNA_uc010pgz.1_Missense_Mutation_p.D24N|LMNA_uc001fnj.2_Missense_Mutation_p.D55N|LMNA_uc001fnk.2_Missense_Mutation_p.D37N	NM_170707	NP_733821	P02545	LMNA_HUMAN	lamin A/C isoform 1 precursor	136	Coil 1B.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity|structural molecule activity			ovary(2)	2	Hepatocellular(266;0.158)					TCGGCTGAAGGACCTGGAGGC	0.572		NaN							Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome		OREG0013866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	72	28				
PRCC	5546	broad.mit.edu	37	1	156756616	156756616	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:156756616A>G	uc001fqa.2	+	3	1023	c.733A>G	c.(733-735)ATC>GTC	p.I245V	PRCC_uc001fqb.2_Missense_Mutation_p.I245V	NM_005973	NP_005964	Q92733	PRCC_HUMAN	papillary renal cell carcinoma	245					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	kidney(25)|central_nervous_system(2)	27	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCCTCTGCTATCAAGGCTGC	0.552		NaN	T	TFE3	papillary renal 								0	0	0	0.010729	0	9	23				
FCGR3A	2214	broad.mit.edu	37	1	161512834	161512834	+	Missense_Mutation	SNP	A	A	G	rs1042208	by1000genomes	TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:161512834A>G	uc001gat.3	-	6	870	c.733T>C	c.(733-735)TTT>CTT	p.F245L	FCGR3A_uc001gar.2_Missense_Mutation_p.F281L|FCGR3A_uc001gas.2_Missense_Mutation_p.F280L|FCGR3A_uc009wuh.2_Missense_Mutation_p.F244L|FCGR3A_uc009wui.2_Missense_Mutation_p.F245L	NM_001127595	NP_001121067	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor	245	Cytoplasmic (Potential).				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTCCATTTAAATTTATGGTCC	0.443		NaN											0	0	0	0.010729	0	4	205				
DCAF6	55827	broad.mit.edu	37	1	167906233	167906233	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:167906233G>A	uc001gew.2	+	1	326	c.84G>A	c.(82-84)CGG>CGA	p.R28R	BRP44_uc001ges.2_5'Flank|BRP44_uc001get.2_5'UTR|BRP44_uc001geu.2_Intron|BRP44_uc009wvn.2_5'Flank|DCAF6_uc001gev.2_Silent_p.R28R|DCAF6_uc001gex.2_Silent_p.R28R|DCAF6_uc010plk.1_Silent_p.R28R	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	IQ motif and WD repeats 1 isoform b	28					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						CCCGGCTGCGGAGTCGATACC	0.711		NaN											0	0	0	0.020292	0	11	17				
F5	2153	broad.mit.edu	37	1	169519105	169519105	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:169519105G>A	uc001ggg.1	-	10	1690	c.1545C>T	c.(1543-1545)ATC>ATT	p.I515I	F5_uc010plr.1_RNA	NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	515	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GCCCAGAGGCGATGTCTCTCA	0.423		NaN											0	0	0	0.008291	0	9	48				
SCYL3	57147	broad.mit.edu	37	1	169845137	169845137	+	Silent	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:169845137A>C	uc001ggs.2	-	4	645	c.447T>G	c.(445-447)GTT>GTG	p.V149V	SCYL3_uc001ggt.2_Silent_p.V149V|SCYL3_uc001ggu.2_RNA	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	SCY1-like 3 isoform 2	149	Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			ovary(1)|skin(1)	2	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGCCTGAGAAACTTTACAAA	0.463		NaN											0	0	0	0.009096	0	3	41				
RASAL2	9462	broad.mit.edu	37	1	178269155	178269155	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:178269155A>G	uc001glq.2	+	3	1123	c.359A>G	c.(358-360)CAG>CGG	p.Q120R	RASAL2_uc009wxb.2_Missense_Mutation_p.Q120R	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 2	Error:Variant_position_missing_in_Q9UJF2_after_alignment					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.E120*(1)		ovary(2)|breast(2)|large_intestine(1)	5						CAGGAGCAGCAGACAGATTCC	0.478		NaN									OREG0014010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.016522	0	23	29				
KIF21B	23046	broad.mit.edu	37	1	200954055	200954055	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:200954055C>T	uc001gvs.1	-	27	4052	c.3735G>A	c.(3733-3735)CGG>CGA	p.R1245R	KIF21B_uc001gvr.1_Silent_p.R1245R|KIF21B_uc009wzl.1_Silent_p.R1245R|KIF21B_uc010ppn.1_Silent_p.R1245R	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	1245					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						CATTGCGGGGCCGAGTGGGAG	0.627		NaN											0	0	0	0.010504	0	20	41				
NAV1	89796	broad.mit.edu	37	1	201779122	201779122	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:201779122G>C	uc001gwu.2	+	22	4788	c.4441G>C	c.(4441-4443)GAG>CAG	p.E1481Q	NAV1_uc001gwx.2_Missense_Mutation_p.E1090Q	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1484					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						ACTAAGCACTGAGTCCATCCA	0.478		NaN											0	0	0	0.021523	0	25	43				
TIMM17A	10440	broad.mit.edu	37	1	201932815	201932815	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:201932815G>A	uc001gxc.2	+	4	298	c.262G>A	c.(262-264)GAT>AAT	p.D88N		NM_006335	NP_006326	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17	88					protein targeting to mitochondrion	integral to membrane|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity				0						AGGAAAGGAAGATCCCTGGAA	0.418		NaN											0	0	0	0.00499	0	18	20				
CNIH3	149111	broad.mit.edu	37	1	224922305	224922305	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:224922305G>A	uc001hos.1	+	5	1050	c.352G>A	c.(352-354)GAC>AAC	p.D118N		NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN	cornichon homolog 3	118	Cytoplasmic (Potential).				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane					0	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		ACTAGCCTACGACCCACCGGT	0.517		NaN											0	0	0	0.008361	0	29	41				
C1orf55	163859	broad.mit.edu	37	1	226175920	226175920	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:226175920C>T	uc001hpu.3	-	6	864	c.811G>A	c.(811-813)GTA>ATA	p.V271I	C1orf55_uc001hpv.2_Missense_Mutation_p.V271I	NM_152608	NP_689821	Q6IQ49	CA055_HUMAN	hypothetical protein LOC163859	271										lung(1)	1	Breast(184;0.197)					GTATTCACTACTCTCGCCCTC	0.502		NaN											0	0	0	0.004656	0	22	159				
CABC1	56997	broad.mit.edu	37	1	227152913	227152913	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:227152913C>T	uc001hqm.1	+	8	3809	c.390C>T	c.(388-390)TTC>TTT	p.F130F	CABC1_uc010pvp.1_Silent_p.F93F|CABC1_uc001hqn.1_Silent_p.F130F|CABC1_uc009xeq.1_Silent_p.F78F|CABC1_uc010pvq.1_Intron|CABC1_uc010pvr.1_5'Flank	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	130					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)				AAGCCGGGTTCCCCGGCCAGG	0.657		NaN											0	0	0	0.00499	0	16	28				
PLD5	200150	broad.mit.edu	37	1	242383325	242383325	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:242383325C>A	uc001hzn.1	-	5	827	c.700G>T	c.(700-702)GGC>TGC	p.G234C	PLD5_uc001hzl.3_Missense_Mutation_p.G172C|PLD5_uc001hzm.3_Missense_Mutation_p.G24C|PLD5_uc001hzo.1_Missense_Mutation_p.G142C			Q8N7P1	PLD5_HUMAN	RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;	234	PLD phosphodiesterase 1.					integral to membrane	catalytic activity			ovary(6)	6	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CCGGCACTGCCGATATACACG	0.517		NaN											1	0	4.7546e-09	0.004007	5.35045e-09	15	25				
OR2L8	391190	broad.mit.edu	37	1	248112660	248112660	+	Silent	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:248112660T>C	uc001idt.1	+	1	501	c.501T>C	c.(499-501)TAT>TAC	p.Y167Y	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATATTCCTTATTGCCGATCCA	0.473		NaN											0	0	0	0.007291	0	26	92				
OR2L3	391192	broad.mit.edu	37	1	248224484	248224484	+	Silent	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:248224484T>C	uc001idx.1	+	1	501	c.501T>C	c.(499-501)TAT>TAC	p.Y167Y	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATATTCCTTATTGCCAATCCA	0.463		NaN											0	0	0	0.00499	0	9	61				
ARHGAP21	57584	broad.mit.edu	37	10	24880173	24880173	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr10:24880173G>A	uc001isb.2	-	24	4618	c.4131C>T	c.(4129-4131)GTC>GTT	p.V1377V	ARHGAP21_uc010qdb.1_RNA	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1376					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8						CTCCTGGGGAGACTCCTGTCC	0.438		NaN											0	0	0	0.01441	0	75	84				
LRRTM3	347731	broad.mit.edu	37	10	68688007	68688007	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr10:68688007T>C	uc001jmz.1	+	2	1883	c.1333T>C	c.(1333-1335)TAC>CAC	p.Y445H	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.Y445H	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	445	Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						ATGGAAGCGGTACCCTGCGAG	0.552		NaN											0	0	0	0.007413	0	18	57				
CDHR1	92211	broad.mit.edu	37	10	85973933	85973933	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr10:85973933C>T	uc001kcv.2	+	17	2136	c.2136C>T	c.(2134-2136)GTC>GTT	p.V712V	CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Silent_p.V416V|CDHR1_uc001kcx.2_Silent_p.V26V	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	712	Helical; (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						TGGCCACCGTCGTGGCCATCA	0.637		NaN											0	0	0	0.012319	0	22	55				
PTEN	5728	broad.mit.edu	37	10	89717673	89717673	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr10:89717673G>A	uc001kfb.2	+	8	1729	c.698G>A	c.(697-699)CGA>CAA	p.R233Q		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	233	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R233*(61)|p.R233fs*10(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R233R(1)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.G165_K342del(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGACCCACACGACGGGAAGAC	0.423		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			0	0	0	0.006122	0	17	44		Valid		
CALHM2	51063	broad.mit.edu	37	10	105209283	105209283	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr10:105209283G>A	uc001kwz.2	-	2	802	c.416C>T	c.(415-417)TCC>TTC	p.S139F	CALHM2_uc001kxa.2_Missense_Mutation_p.S139F|CALHM2_uc001kxc.2_Missense_Mutation_p.S139F|CALHM2_uc001kxb.2_Missense_Mutation_p.S139F|CALHM2_uc001kxd.1_Missense_Mutation_p.S139F	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	139						integral to membrane				skin(1)	1						CGTGAGTGAGGAAGGGTCCAC	0.597		NaN											0	0	0	0.016522	0	23	49				
TACC2	10579	broad.mit.edu	37	10	123845774	123845774	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr10:123845774G>A	uc001lfv.2	+	4	4119	c.3759G>A	c.(3757-3759)GTG>GTA	p.V1253V	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.V1253V|TACC2_uc010qtv.1_Silent_p.V1253V	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1253						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACAGTGGAGTGAAAGCTGTTT	0.592		NaN											0	0	0	0.005524	0	36	54				
MUC6	4588	broad.mit.edu	37	11	1024858	1024858	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:1024858T>G	uc001lsw.2	-	24	3262	c.3211A>C	c.(3211-3213)ACC>CCC	p.T1071P		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1071	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGTGGCAGGTGGCAAAGGTC	0.687		NaN											0	0	0	0.00308	0	5	18				
MUC6	4588	broad.mit.edu	37	11	1027765	1027765	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:1027765G>A	uc001lsw.2	-	16	1952	c.1901C>T	c.(1900-1902)GCC>GTC	p.A634V		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	634					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCCAGGGCGGCACAGATGTG	0.662		NaN											0	0	0	0.008291	0	10	4				
MUC6	4588	broad.mit.edu	37	11	1028662	1028662	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:1028662G>A	uc001lsw.2	-	13	1626	c.1575C>T	c.(1573-1575)TTC>TTT	p.F525F		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	525	VWFD 2.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCTGACCTCTGAACTGGGGCC	0.627		NaN											0	0	0	0.006214	0	9	3				
MUC2	4583	broad.mit.edu	37	11	1083168	1083168	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:1083168G>C	uc001lsx.1	+	16	2095	c.2068G>C	c.(2068-2070)GAG>CAG	p.E690Q		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	690						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCACTGTCTCGAGGGCTTTGC	0.662		NaN											0	0	0	0.006122	0	14	17				
PARVA	55742	broad.mit.edu	37	11	12525871	12525871	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:12525871C>T	uc001mki.2	+	6	601	c.552C>T	c.(550-552)GCC>GCT	p.A184A	PARVA_uc010rck.1_Silent_p.A131A	NM_018222	NP_060692	Q9NVD7	PARVA_HUMAN	parvin, alpha	184	CH 1.				cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)	3				Epithelial(150;0.00624)		CTGTTCATGCCAAGAGCCTGG	0.458		NaN											0	0	0	0.003163	0	15	7				
AMBRA1	55626	broad.mit.edu	37	11	46419037	46419037	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:46419037T>C	uc010rgu.1	-	18	4220	c.3860A>G	c.(3859-3861)GAC>GGC	p.D1287G	AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Missense_Mutation_p.D1258G|AMBRA1_uc001ncu.1_Missense_Mutation_p.D1197G|AMBRA1_uc001ncv.2_Missense_Mutation_p.D1290G|AMBRA1_uc001ncw.2_Missense_Mutation_p.D1168G|AMBRA1_uc001ncx.2_Missense_Mutation_p.D1227G	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	1287					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GCCTGCAGCGTCCCCCCTGCT	0.602		NaN											0	0	0	0.009096	0	3	79				
LRP4	4038	broad.mit.edu	37	11	46920516	46920516	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:46920516G>A	uc001ndn.3	-	6	761	c.615C>T	c.(613-615)CTC>CTT	p.L205L	LRP4_uc009ylh.1_Silent_p.L156L	NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	205	Extracellular (Potential).|LDL-receptor class A 5.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		GGTAGATGTCGAGGATGCAGC	0.642		NaN											0	0	0	0.008871	0	20	10				
PTPMT1	114971	broad.mit.edu	37	11	47587500	47587500	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:47587500G>A	uc001nfs.3	+	2	410	c.217G>A	c.(217-219)GAG>AAG	p.E73K	PTPMT1_uc001nfv.3_Missense_Mutation_p.R109Q|PTPMT1_uc009ylt.2_Missense_Mutation_p.E73K|PTPMT1_uc001nfu.3_Missense_Mutation_p.R109Q|NDUFS3_uc001nft.3_5'UTR	NM_175732	NP_783859	Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	73					inositol phosphate dephosphorylation	mitochondrial inner membrane	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(1)	1						CACCATGAACGAGGAGTACGA	0.677		NaN											0	0	0	0.010504	0	15	20				
MAP4K2	5871	broad.mit.edu	37	11	64570095	64570095	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:64570095A>G	uc001obh.2	-	3	277	c.185T>C	c.(184-186)ATC>ACC	p.I62T	MAP4K2_uc001obi.2_Missense_Mutation_p.I62T|MAP4K2_uc010rnp.1_Missense_Mutation_p.I62T	NM_004579	NP_004570	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase	62	Protein kinase.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(1)|pancreas(1)	2						CAGGATGGTGATTTCCTGCTG	0.552		NaN											0	0	0	0.003163	0	11	20				
MUS81	80198	broad.mit.edu	37	11	65628568	65628568	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:65628568C>T	uc001ofv.3	+	2	613	c.260C>T	c.(259-261)TCG>TTG	p.S87L	CFL1_uc001ofs.2_5'Flank|CFL1_uc001oft.2_5'Flank|CFL1_uc001ofu.2_5'Flank|MUS81_uc001ofw.3_RNA|MUS81_uc001ofx.3_5'Flank	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN	MUS81 endonuclease homolog	87					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding				0				READ - Rectum adenocarcinoma(159;0.166)		CACCGAACATCGGGCGGTGAG	0.662		NaN						Homologous_recombination					0	0	0	0.005524	0	35	38				
SSH3	54961	broad.mit.edu	37	11	67071614	67071614	+	Missense_Mutation	SNP	G	G	A	rs138958962		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:67071614G>A	uc001okj.2	+	2	270	c.92G>A	c.(91-93)CGA>CAA	p.R31Q	SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_5'UTR	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	slingshot homolog 3	31					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CGAAGGAGTCGACTCCAGCGA	0.692		NaN											0	0	0	0.016723	0	13	14				
PITPNM1	9600	broad.mit.edu	37	11	67271650	67271650	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:67271650A>G	uc001olx.2	-	1	191	c.2T>C	c.(1-3)ATG>ACG	p.M1T	PITPNM1_uc001oly.2_Missense_Mutation_p.M1T|PITPNM1_uc001olz.2_Missense_Mutation_p.M1T	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	1					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3						CTTGATGAGCATCCTGAAGGC	0.706		NaN											0	0	0	0.006214	0	10	25				
ARAP1	116985	broad.mit.edu	37	11	72420989	72420989	+	Missense_Mutation	SNP	G	G	C	rs77842696	byFrequency	TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:72420989G>C	uc001osu.2	-	11	1638	c.1449C>G	c.(1447-1449)ATC>ATG	p.I483M	ARAP1_uc001osv.2_Missense_Mutation_p.I483M|ARAP1_uc001osr.2_Missense_Mutation_p.I243M|ARAP1_uc001oss.2_Missense_Mutation_p.I238M|ARAP1_uc009yth.2_Missense_Mutation_p.I238M|ARAP1_uc010rre.1_Missense_Mutation_p.I238M	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	483	PH 2.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						CGCTCATGTCGATGAAGGTGA	0.622		NaN											0	0	0	0.012213	0	34	64				
MLL	4297	broad.mit.edu	37	11	118342391	118342391	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:118342391C>T	uc001pta.2	+	3	540	c.517C>T	c.(517-519)CGA>TGA	p.R173*	MLL_uc001ptb.2_Nonsense_Mutation_p.R173*|MLL_uc001psz.1_Nonsense_Mutation_p.R206*|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	173	A.T hook 1.				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AACTAGTCCTCGAAAACCTCG	0.383		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								0	0	0	0.004482	0	8	15		Valid		
ZNF202	7753	broad.mit.edu	37	11	123598256	123598256	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:123598256C>T	uc001pzd.1	-	8	1280	c.880G>A	c.(880-882)GAG>AAG	p.E294K	ZNF202_uc001pzc.1_Missense_Mutation_p.E70K|ZNF202_uc001pze.1_Missense_Mutation_p.E294K|ZNF202_uc001pzf.1_Missense_Mutation_p.E294K	NM_003455	NP_003446	O95125	ZN202_HUMAN	zinc finger protein 202	294	KRAB.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		ACCCAAGGCTCTTCCTCTCTA	0.483		NaN											0	0	0	0.016522	0	22	25				
TP53AIP1	63970	broad.mit.edu	37	11	128805599	128805599	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:128805599G>C	uc001qey.2	-	4	472	c.262C>G	c.(262-264)CTA>GTA	p.L88V	TP53AIP1_uc001qex.2_3'UTR			Q9HCN2	TPIP1_HUMAN	RecName: Full=p53-regulated apoptosis-inducing protein 1;          Short=p53AIP1;	88					apoptosis	mitochondrion				lung(1)	1						GAGAGACCTAGACCAAGGCCT	0.463		NaN											0	0	0	0.004672	0	3	5				
SNX19	399979	broad.mit.edu	37	11	130785628	130785628	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:130785628G>A	uc001qgk.3	-	1	755	c.207C>T	c.(205-207)CTC>CTT	p.L69L	SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Silent_p.L69L|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	69					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|lung(2)	4	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CCACTCCAGCGAGGCTGGAGC	0.602		NaN											0	0	0	0.004482	0	9	42				
B4GALNT3	283358	broad.mit.edu	37	12	645436	645436	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:645436A>G	uc001qii.1	+	3	326	c.326A>G	c.(325-327)AAC>AGC	p.N109S		NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	beta	109	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			ovary(1)|skin(1)	2	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TTGAAGTGGAACAAGCCTGTC	0.448		NaN											0	0	0	0.003163	0	14	84				
KCNA6	3742	broad.mit.edu	37	12	4920654	4920654	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:4920654G>A	uc001qng.2	+	1	2313	c.1447G>A	c.(1447-1449)GGG>AGG	p.G483R		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	483						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						CGTCACTTGTGGGCAGCCTGC	0.607		NaN								HNSCC(72;0.22)			0	0	0	0.012319	0	21	48				
CD163	9332	broad.mit.edu	37	12	7635263	7635263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:7635263G>A	uc001qsz.3	-	14	3351	c.3223C>T	c.(3223-3225)CGA>TGA	p.R1075*	CD163_uc001qta.3_Nonsense_Mutation_p.R1075*|CD163_uc009zfw.2_Nonsense_Mutation_p.R1108*	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	1075	Cytoplasmic (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						CTCTGTCTTCGCTTTTTAGTC	0.433		NaN											0	0	0	0.01441	0	61	72				
SLC2A3	6515	broad.mit.edu	37	12	8083956	8083956	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:8083956C>A	uc001qtr.2	-	4	657	c.395G>T	c.(394-396)GGA>GTA	p.G132V	SLC2A3_uc001qts.2_Missense_Mutation_p.G132V	NM_006931	NP_008862	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose	132	Helical; Name=4; (Potential).				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			ovary(3)|pancreas(1)	4				Kidney(36;0.0866)		TGTGCAGAGTCCGCAGAAGAG	0.537		NaN											1	0	2.12542e-12	0.00632	2.41649e-12	27	70				
SOX5	6660	broad.mit.edu	37	12	23999076	23999076	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:23999076T>A	uc001rfw.2	-	3	424	c.322A>T	c.(322-324)ACC>TCC	p.T108S	SOX5_uc001rfx.2_Missense_Mutation_p.T95S|SOX5_uc001rfy.2_Missense_Mutation_p.T95S|SOX5_uc010siv.1_Missense_Mutation_p.T95S|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.T60S|SOX5_uc001rga.2_Missense_Mutation_p.T73S	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	108					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						TGAGGTGAGGTAGATGAGTTG	0.468		NaN											0	0	0	0.004656	0	22	59				
C12orf77	196415	broad.mit.edu	37	12	25149238	25149238	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:25149238G>A	uc001rgf.2	-	2	244	c.39C>T	c.(37-39)CTC>CTT	p.L13L		NM_001101339	NP_001094809	C9JDV5	CL097_HUMAN	hypothetical protein LOC196415	13											0						TTATGACTAGGAGGGAAATGT	0.408		NaN											0	0	0	0.00499	0	14	57				
DDX11	1663	broad.mit.edu	37	12	31256902	31256902	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:31256902G>A	uc001rjt.1	+	27	3099	c.2848G>A	c.(2848-2850)GAG>AAG	p.E950K	DDX11_uc001rjr.1_3'UTR|DDX11_uc001rjs.1_3'UTR|DDX11_uc001rju.1_3'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.E950K|DDX11_uc001rjw.1_3'UTR|DDX11_uc009zjn.1_RNA|DDX11_uc009zjo.1_Missense_Mutation_p.E119K	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	950					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GTGGAGTCCAGAGTGCTGCCA	0.592		NaN								Multiple Myeloma(12;0.14)			0	0	0	0.001168	0	6	6				
SMAGP	57228	broad.mit.edu	37	12	51639758	51639758	+	Silent	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:51639758G>T	uc001ryc.1	-	3	932	c.261C>A	c.(259-261)GCC>GCA	p.A87A	SMAGP_uc001ryd.1_Silent_p.A87A|SMAGP_uc001rye.1_Silent_p.A87A|SMAGP_uc001ryf.1_RNA|DAZAP2_uc010snf.1_Intron	NM_001033873	NP_001029045	Q0VAQ4	SMAGP_HUMAN	small trans-membrane and glycosylated protein	87	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|plasma membrane					0						CGCTGCCCTTGGCCAAGTCAC	0.488		NaN											1	0	3.8784e-16	0.012319	4.49078e-16	22	36				
KRT2	3849	broad.mit.edu	37	12	53040646	53040646	+	Silent	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:53040646C>G	uc001sat.2	-	7	1380	c.1347G>C	c.(1345-1347)CTG>CTC	p.L449L		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	449	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)		TGGCCTGCTGCAGGGCCTCCT	0.587		NaN											0	0	0	0.008291	0	10	78				
CSAD	51380	broad.mit.edu	37	12	53565213	53565213	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:53565213G>C	uc001sby.2	-	7	590	c.464C>G	c.(463-465)TCC>TGC	p.S155C	CSAD_uc001sbw.2_Intron|CSAD_uc009zmt.2_Intron|CSAD_uc010snx.1_Missense_Mutation_p.S182C|CSAD_uc001sbz.2_Missense_Mutation_p.S155C|CSAD_uc009zmu.2_Intron|CSAD_uc001sca.3_RNA|CSAD_uc010sny.1_3'UTR	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	155					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			ovary(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	ATACATGTTGGAGATGGAGCC	0.597		NaN							Hereditary_Prostate_Cancer				0	0	0	0.008291	0	11	29				
ITGA7	3679	broad.mit.edu	37	12	56091544	56091544	+	Silent	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:56091544A>G	uc001shh.2	-	9	1576	c.1356T>C	c.(1354-1356)GAT>GAC	p.D452D	ITGA7_uc001shg.2_Silent_p.D448D|ITGA7_uc010sps.1_Silent_p.D355D|ITGA7_uc009znw.2_5'Flank|ITGA7_uc009znx.2_Silent_p.D335D	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	492	Potential.|FG-GAP 7.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						TCCCATCCATATCCAAGCTGC	0.607		NaN											0	0	0	0.021523	0	24	32				
CD63	967	broad.mit.edu	37	12	56120509	56120509	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:56120509G>A	uc001shm.2	-	4	497	c.401C>T	c.(400-402)TCG>TTG	p.S134L	CD63_uc009znz.2_Missense_Mutation_p.S111L|CD63_uc001shn.2_Missense_Mutation_p.S134L|CD63_uc001sho.2_Missense_Mutation_p.S134L|CD63_uc001shp.2_Missense_Mutation_p.S134L	NM_001780	NP_001771	P08962	CD63_HUMAN	CD63 antigen isoform A	134	Extracellular (Potential).				platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane					0						GTCCAGGATCGAAGCAGTGTG	0.458		NaN											0	0	0	0.007291	0	31	34				
MBD6	114785	broad.mit.edu	37	12	57918588	57918589	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:57918588_57918589CC>TT	uc001soj.1	+	4	423_424	c.199_200CC>TT	c.(199-201)CCA>TTA	p.P67L	MBD6_uc001sok.1_5'Flank|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	67	MBD.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4						TCTGGAGTGTCCACTTAATGTC	0.545		NaN											0	0	0	0.004672	0	21	52				
AGAP2	116986	broad.mit.edu	37	12	58121176	58121176	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:58121176C>T	uc001spq.2	-	17	3047	c.3047G>A	c.(3046-3048)CGA>CAA	p.R1016Q	AGAP2_uc001spo.1_5'Flank|AGAP2_uc001spp.2_Missense_Mutation_p.R1015Q|AGAP2_uc001spr.2_Missense_Mutation_p.R660Q|LOC100130776_uc001sps.3_Missense_Mutation_p.S134L	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	1016	Arf-GAP.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			central_nervous_system(3)|breast(2)	5						GGCACGGCCTCGCGTGTCGCT	0.667		NaN											0	0	0	0.001984	0	7	11				
TMEM5	10329	broad.mit.edu	37	12	64199128	64199128	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:64199128G>A	uc001srq.1	+	5	962	c.858G>A	c.(856-858)ATG>ATA	p.M286I	TMEM5_uc001srr.1_Missense_Mutation_p.M183I|TMEM5_uc001srs.1_Missense_Mutation_p.M26I	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	286	Extracellular (Potential).					integral to plasma membrane					0		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		AGGCACTAATGAACATTTTGA	0.368		NaN											0	0	0	0.01892	0	22	50				
NAP1L1	4673	broad.mit.edu	37	12	76447574	76447574	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:76447574C>T	uc001sxw.2	-	9	1158	c.746G>A	c.(745-747)GGA>GAA	p.G249E	NAP1L1_uc001sxv.2_Missense_Mutation_p.G207E|NAP1L1_uc001sxz.2_Missense_Mutation_p.G180E|NAP1L1_uc001sxx.2_Missense_Mutation_p.G249E|NAP1L1_uc001sxy.2_Missense_Mutation_p.G186E|NAP1L1_uc010sty.1_Missense_Mutation_p.G206E|NAP1L1_uc010stz.1_Missense_Mutation_p.G66E|NAP1L1_uc010sua.1_Missense_Mutation_p.G249E|NAP1L1_uc001syb.2_Missense_Mutation_p.G249E|NAP1L1_uc001sya.2_Missense_Mutation_p.G207E|NAP1L1_uc001syc.2_Missense_Mutation_p.G260E	NM_139207	NP_631946	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	249					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			ovary(1)|skin(1)	2		Colorectal(145;0.09)				AATTTCTGGTCCATCAAAAGA	0.323		NaN											0	0	0	0.00308	0	8	24				
PPP1R12A	4659	broad.mit.edu	37	12	80328602	80328602	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:80328602T>A	uc001syz.2	-	1	377	c.110A>T	c.(109-111)AAG>ATG	p.K37M	PPP1R12A_uc001sza.2_Missense_Mutation_p.K37M|PPP1R12A_uc010sud.1_Missense_Mutation_p.K37M|PPP1R12A_uc001szb.2_Missense_Mutation_p.K37M|PPP1R12A_uc001szc.2_Missense_Mutation_p.K37M	NM_002480	NP_002471	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	37						contractile fiber	protein binding|signal transducer activity			ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						ATCGTCGAACTTCACCTTGGT	0.637		NaN											0	0	0	0.001168	0	5	3				
TMCC3	57458	broad.mit.edu	37	12	94965478	94965478	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:94965478C>T	uc001tdj.2	-	4	1285	c.1167G>A	c.(1165-1167)AAG>AAA	p.K389K	TMCC3_uc001tdi.2_Silent_p.K358K	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	389	Potential.					integral to membrane				ovary(1)|skin(1)	2						GGAGCTCCAGCTTAGAAATGC	0.547		NaN											0	0	0	0.016522	0	22	58				
CDK17	5128	broad.mit.edu	37	12	96728597	96728597	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:96728597T>A	uc001tep.1	-	2	507	c.18A>T	c.(16-18)AGA>AGT	p.R6S	CDK17_uc009ztk.2_Missense_Mutation_p.R6S|CDK17_uc010svb.1_Intron	NM_002595	NP_002586	Q00537	CDK17_HUMAN	PCTAIRE protein kinase 2	6							ATP binding|cyclin-dependent protein kinase activity			ovary(3)|lung(2)|kidney(1)|central_nervous_system(1)	7						GGGATAGCCTTCTCTTAAATT	0.338		NaN											0	0	0	0.001168	0	5	14				
SACS	26278	broad.mit.edu	37	13	23906653	23906653	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr13:23906653G>A	uc001uon.2	-	10	11951	c.11362C>T	c.(11362-11364)CGT>TGT	p.R3788C	SACS_uc001uoo.2_Missense_Mutation_p.R3641C|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3788					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACTGAAAACGAAATTCCCTT	0.383		NaN											0	0	0	0.005443	0	28	48				
MTMR6	9107	broad.mit.edu	37	13	25827950	25827950	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr13:25827950T>C	uc001uqf.3	-	11	1617	c.1298A>G	c.(1297-1299)CAG>CGG	p.Q433R	MTMR6_uc001uqe.1_Missense_Mutation_p.Q433R	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	433	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)|skin(2)	4		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		GTTTCCAAACTGGCATGAATG	0.408		NaN											0	0	0	0.016522	0	24	48				
KBTBD6	89890	broad.mit.edu	37	13	41706188	41706188	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr13:41706188C>T	uc001uxu.1	-	1	749	c.460G>A	c.(460-462)GAA>AAA	p.E154K	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.E88K|uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	154							protein binding			ovary(1)|skin(1)	2		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CGCACATATTCCAGCTGTAGC	0.582		NaN											0	0	0	0.008871	0	17	23				
RNF219	79596	broad.mit.edu	37	13	79190511	79190511	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr13:79190511G>C	uc001vkw.1	-	6	1444	c.1385C>G	c.(1384-1386)CCA>CGA	p.P462R	uc001vku.1_RNA|RNF219_uc010afb.1_Missense_Mutation_p.P272R|RNF219_uc010afc.2_Intron	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	ring finger protein 219	462	Ser-rich.			P -> T (in Ref. 1; CAB66586).			zinc ion binding			large_intestine(2)	2		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TCCTGTCTTTGGGGAAGAAAA	0.333		NaN											0	0	0	0.008291	0	9	17				
GPR18	2841	broad.mit.edu	37	13	99908094	99908094	+	Silent	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr13:99908094G>C	uc001voe.3	-	3	534	c.33C>G	c.(31-33)GTC>GTG	p.V11V	UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron|GPR18_uc010afv.2_Silent_p.V11V	NM_005292	NP_005283	Q14330	GPR18_HUMAN	G protein-coupled receptor 18	11	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled				0	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	TGTTAAAAGGGACAGGTTGAT	0.323		NaN											0	0	0	0.020292	0	13	37				
OR11H4	390442	broad.mit.edu	37	14	20711591	20711591	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:20711591C>G	uc010tld.1	+	1	641	c.641C>G	c.(640-642)TCC>TGC	p.S214C		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H,	214	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		ACTCAGAGCTCCCTTGTCCTC	0.443		NaN											0	0	0	0.008871	0	21	159				
ACIN1	22985	broad.mit.edu	37	14	23559767	23559767	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:23559767G>A	uc001wit.3	-	3	782	c.454C>T	c.(454-456)CTG>TTG	p.L152L	ACIN1_uc010akg.2_Silent_p.L152L|ACIN1_uc010tnj.1_Silent_p.L152L	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	152	Glu-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCACGTTCCAGACGCTGCCTA	0.438		NaN											0	0	0	0.001984	0	7	47				
ARHGAP5	394	broad.mit.edu	37	14	32562941	32562941	+	Silent	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:32562941T>C	uc001wrl.2	+	2	3305	c.3066T>C	c.(3064-3066)CAT>CAC	p.H1022H	ARHGAP5_uc001wrm.2_Silent_p.H1022H|ARHGAP5_uc001wrn.2_Silent_p.H1022H|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	1022					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATCCTATTCATAGTACCCCAA	0.403		NaN											0	0	0	0.003163	0	15	65				
AKAP6	9472	broad.mit.edu	37	14	33291834	33291834	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:33291834C>A	uc001wrq.2	+	13	4985	c.4815C>A	c.(4813-4815)AGC>AGA	p.S1605R		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1605	Ser-rich.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CCTATAAAAGCAATGAAGATC	0.428		NaN											1	0	0.000274275	0.004482	0.000298715	9	37				
SYNE2	23224	broad.mit.edu	37	14	64457735	64457735	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:64457735A>G	uc001xgm.2	+	21	2778	c.2548A>G	c.(2548-2550)ATG>GTG	p.M850V	SYNE2_uc001xgl.2_Missense_Mutation_p.M850V	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	850	Potential.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGGCTGAAGATGGAAGAATC	0.413		NaN											0	0	0	0.011902	0	43	8				
SPTB	6710	broad.mit.edu	37	14	65233430	65233430	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:65233430G>A	uc001xht.2	-	31	6413	c.6359C>T	c.(6358-6360)TCT>TTT	p.S2120F	SPTB_uc001xhr.2_Intron|SPTB_uc001xhs.2_Intron|SPTB_uc001xhu.2_Missense_Mutation_p.S2120F|SPTB_uc010aqi.2_Intron	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	2120					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AGACAAACGAGACCAGAGACT	0.632		NaN											0	0	0	0.01441	0	126	35				
GTF2A1	2957	broad.mit.edu	37	14	81662522	81662522	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:81662522G>A	uc001xvf.1	-	6	974	c.542C>T	c.(541-543)TCA>TTA	p.S181L	GTF2A1_uc010atb.1_Missense_Mutation_p.S131L|GTF2A1_uc001xvg.1_Missense_Mutation_p.S142L	NM_015859	NP_056943	P52655	TF2AA_HUMAN	TFIIA alpha, p55 isoform 1	181					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0287)		TAGAACCACTGACTGCTGAGG	0.423		NaN											0	0	0	0.01441	0	55	21				
AK7	122481	broad.mit.edu	37	14	96949491	96949491	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:96949491G>A	uc001yfn.2	+	16	1953	c.1909G>A	c.(1909-1911)GAA>AAA	p.E637K		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	adenylate kinase 7	637	Potential.|Glu-rich.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			ovary(1)	1		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GGCTGCTGAGGAAGCAGAACG	0.567		NaN											0	0	0	0.003163	0	16	8				
HSP90AA1	3320	broad.mit.edu	37	14	102550300	102550300	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:102550300C>T	uc001yku.3	-	7	1358	c.1168G>A	c.(1168-1170)GAC>AAC	p.D390N	HSP90AA1_uc001ykv.3_Missense_Mutation_p.D512N|HSP90AA1_uc001ykw.1_Missense_Mutation_p.D211N|HSP90AA1_uc001ykx.1_Missense_Mutation_p.D379N	NM_005348	NP_005339	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 2	390					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)	TCCTCCGAGTCTACCACCCCT	0.363		NaN											0	0	0	0.010504	0	19	10				
XRCC3	7517	broad.mit.edu	37	14	104174929	104174929	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:104174929G>A	uc001yny.3	-	5	503	c.123C>T	c.(121-123)CTC>CTT	p.L41L	XRCC3_uc001ynx.3_Silent_p.L41L|XRCC3_uc001ynz.3_Silent_p.L41L|XRCC3_uc001yoa.3_Silent_p.L41L|XRCC3_uc001yob.1_RNA	NM_005432	NP_005423	O43542	XRCC3_HUMAN	X-ray repair cross complementing protein 3	41					DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		CGGGGCTGGAGAGGTTGGTCA	0.507		NaN						Direct_reversal_of_damage|Homologous_recombination					0	0	0	0.014323	0	22	8				
HERC2	8924	broad.mit.edu	37	15	28460863	28460863	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:28460863C>T	uc001zbj.2	-	39	6220	c.6114G>A	c.(6112-6114)CAG>CAA	p.Q2038Q		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2038					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGCCGCATACCTGCGGCGTGA	0.627		NaN											0	0	0	0.016522	0	23	24				
APBA2	321	broad.mit.edu	37	15	29393827	29393827	+	Missense_Mutation	SNP	G	G	A	rs142481200		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:29393827G>A	uc001zck.2	+	9	1571	c.1364G>A	c.(1363-1365)CGT>CAT	p.R455H	APBA2_uc010azj.2_Missense_Mutation_p.R443H|APBA2_uc010uat.1_Missense_Mutation_p.R443H|APBA2_uc001zcl.2_Missense_Mutation_p.R443H|APBA2_uc001zcm.1_Missense_Mutation_p.R147H	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	455	PID.				nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CACGCCTTGCGTACCATCTCC	0.552		NaN											0	0	0	0.004482	0	8	15				
DISP2	85455	broad.mit.edu	37	15	40660107	40660107	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:40660107C>T	uc001zlk.1	+	8	1883	c.1794C>T	c.(1792-1794)CTC>CTT	p.L598L		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	598	Helical; (Potential).|SSD.				smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TCTCCGGCCTCACCACGAGCG	0.706		NaN											0	0	0	0.001168	0	6	4				
LCMT2	9836	broad.mit.edu	37	15	43622469	43622469	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:43622469C>G	uc001zrg.2	-	1	423	c.219G>C	c.(217-219)CAG>CAC	p.Q73H	LCMT2_uc010udn.1_Intron|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	73					tRNA processing		methyltransferase activity|protein binding				0		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GCGCGCCAATCTGCTCCAAAA	0.682		NaN											0	0	0	0.008871	0	19	11				
ODF3L1	161753	broad.mit.edu	37	15	76017546	76017546	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:76017546G>A	uc002bax.1	+	2	438	c.216G>A	c.(214-216)CGG>CGA	p.R72R		NM_175881	NP_787077	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	72											0						TGCATAGCCGGCACTCAGAGA	0.592		NaN											0	0	0	0.014758	0	4	58				
ARNT2	9915	broad.mit.edu	37	15	80845057	80845057	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:80845057A>G	uc002bfr.2	+	10	1197	c.1031A>G	c.(1030-1032)GAT>GGT	p.D344G	ARNT2_uc010unm.1_Missense_Mutation_p.D333G|ARNT2_uc002bfs.2_Missense_Mutation_p.D333G	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	344	PAS 2.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)			CATAACTCCGATGGAATCATC	0.473		NaN											0	0	0	0.013114	0	46	28				
BTBD1	53339	broad.mit.edu	37	15	83710670	83710670	+	Silent	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:83710670G>C	uc002bjn.2	-	4	875	c.672C>G	c.(670-672)CTC>CTG	p.L224L	BTBD1_uc002bjo.2_Silent_p.L224L	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1 isoform 1	224						cytoplasmic mRNA processing body|protein complex	protein binding			ovary(1)|central_nervous_system(1)	2				all cancers(203;0.000186)		AAACTGCACAGAGTGTATCTA	0.368		NaN											0	0	0	0.003163	0	13	12				
RGMA	56963	broad.mit.edu	37	15	93588760	93588760	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:93588760G>T	uc002bss.1	-	4	1093	c.821C>A	c.(820-822)GCC>GAC	p.A274D	RGMA_uc002bsq.1_Missense_Mutation_p.A258D|RGMA_uc010boi.1_Missense_Mutation_p.A165D|RGMA_uc002bsr.1_Missense_Mutation_p.A165D|RGMA_uc010urc.1_Missense_Mutation_p.A282D	NM_020211	NP_064596	Q96B86	RGMA_HUMAN	RGM domain family, member A precursor	274					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane					0	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GATGTACTTGGCCTGGATCTC	0.617		NaN											1	0	3.1745e-13	0.008361	3.63744e-13	27	9				
FAM169B	283777	broad.mit.edu	37	15	98995120	98995120	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:98995120C>T	uc002buk.1	-	5	554	c.304G>A	c.(304-306)GAG>AAG	p.E102K		NM_182562	NP_872368	Q8N8A8	F169B_HUMAN	hypothetical protein LOC283777	102											0						GGGAATGTCTCACAGAAGTCC	0.572		NaN											0	0	0	0.020292	0	14	5				
NLRC3	197358	broad.mit.edu	37	16	3613416	3613416	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:3613416C>G	uc010btn.2	-	5	1933	c.1522G>C	c.(1522-1524)GGG>CGG	p.G508R		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	508					I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						TCCAGCCTCCCGTCCTCTGCC	0.667		NaN											0	0	0	0.004672	0	3	0				
ZNF267	10308	broad.mit.edu	37	16	31927008	31927008	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:31927008A>T	uc002ecs.3	+	4	1647	c.1438A>T	c.(1438-1440)ATT>TTT	p.I480F		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	480	C2H2-type 6.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4						TTCAAATCTTATTATGCATCA	0.363		NaN											0	0	0	0.008291	0	11	56				
ABCC12	94160	broad.mit.edu	37	16	48130786	48130786	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:48130786G>A	uc002efc.1	-	22	3412	c.3066C>T	c.(3064-3066)CTC>CTT	p.L1022L	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	1022	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				CAAACCACCTGAGAGCACAGT	0.463		NaN											0	0	0	0.005443	0	24	40				
CDH16	1014	broad.mit.edu	37	16	66946442	66946442	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:66946442T>A	uc002eql.2	-	11	1397	c.1324A>T	c.(1324-1326)ATC>TTC	p.I442F	CDH16_uc010cdy.2_Missense_Mutation_p.I442F|CDH16_uc002eqm.2_Missense_Mutation_p.I345F	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	442	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TGATCATTGATATCTGTGACT	0.597		NaN											0	0	0	0.016723	0	12	47				
ESRP2	80004	broad.mit.edu	37	16	68269814	68269814	+	Silent	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:68269814C>G	uc010cfa.1	-	1	323	c.135G>C	c.(133-135)CTG>CTC	p.L45L	ESRP2_uc002evq.1_Silent_p.L45L	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	RNA binding motif protein 35B	45					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			ovary(1)	1						CGTCCGAGCCCAGGTCCCGTC	0.502		NaN											0	0	0	0.008291	0	10	11				
MTSS1L	92154	broad.mit.edu	37	16	70698173	70698173	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:70698173T>C	uc002ezj.2	-	15	1911	c.1651A>G	c.(1651-1653)ACT>GCT	p.T551A		NM_138383	NP_612392	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	551					filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			central_nervous_system(1)	1						GGCAGGCCAGTGGCCGTGGGC	0.746		NaN											0	0	0	0.004482	0	9	23				
CMIP	80790	broad.mit.edu	37	16	81712175	81712175	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:81712175G>C	uc002fgp.2	+	10	1402	c.1330G>C	c.(1330-1332)GAG>CAG	p.E444Q	CMIP_uc002fgq.1_Missense_Mutation_p.E350Q|CMIP_uc010vnq.1_Missense_Mutation_p.E257Q|CMIP_uc002fgr.1_Missense_Mutation_p.E291Q	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip	410						cytoplasm|nucleus					0						CATGAGCATCGAGCTGGGCCC	0.562		NaN											0	0	0	0.008291	0	8	9				
ZDHHC7	55625	broad.mit.edu	37	16	85011581	85011581	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:85011581G>C	uc002fiq.2	-	6	921	c.568C>G	c.(568-570)CTG>GTG	p.L190V	ZDHHC7_uc010voi.1_Missense_Mutation_p.L227V|ZDHHC7_uc002fir.1_RNA	NM_017740	NP_060210	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7 isoform 2	190	Helical; (Potential).					integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(1)	1						CAAAGGATCAGAGCATGGACT	0.378		NaN											0	0	0	0.01441	0	45	41				
TCF25	22980	broad.mit.edu	37	16	89958628	89958628	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:89958628C>T	uc002fpb.2	+	6	724	c.642C>T	c.(640-642)CCC>CCT	p.P214P	TCF25_uc002fpc.2_5'UTR	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	NULP1	214					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		GTGTGTACCCCAAGTGCACAT	0.617		NaN											0	0	0	0.001168	0	4	21				
ZNF594	84622	broad.mit.edu	37	17	5086957	5086957	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:5086957C>G	uc010cla.1	-	2	751	c.595G>C	c.(595-597)GTG>CTG	p.V199L		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	199	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						TTATGTCTCACCAGATTGGAG	0.393		NaN											0	0	0	0.00623	0	38	87				
ZNF594	84622	broad.mit.edu	37	17	5087090	5087090	+	Silent	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:5087090T>G	uc010cla.1	-	2	618	c.462A>C	c.(460-462)CCA>CCC	p.P154P		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						TACACACATATGGCTTATTTC	0.303		NaN											0	0	0	0.016522	0	22	55				
DHX33	56919	broad.mit.edu	37	17	5371895	5371895	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:5371895G>A	uc002gca.2	-	1	287	c.285C>T	c.(283-285)CTC>CTT	p.L95L	DHX33_uc002gcb.2_5'UTR|DHX33_uc010clf.2_Silent_p.L95L	NM_020162	NP_064547	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	95	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|pancreas(1)	2						ACTCACCGATGAGGACCGCGT	0.612		NaN											0	0	0	0.001168	0	5	16				
DLG4	1742	broad.mit.edu	37	17	7121570	7121570	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:7121570G>C	uc002get.3	-	3	1350	c.149C>G	c.(148-150)TCA>TGA	p.S50*	DLG4_uc010cly.2_5'Flank|DLG4_uc010vto.1_Nonsense_Mutation_p.S50*|DLG4_uc002geu.2_5'Flank|ACADVL_uc010vtp.1_Intron|ACADVL_uc010vtq.1_5'Flank|ACADVL_uc002gev.2_5'Flank|ACADVL_uc002gew.2_5'Flank|ACADVL_uc002gex.2_5'Flank	NM_001365	NP_001356	P78352	DLG4_HUMAN	post-synaptic density protein 95 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			ovary(1)|breast(1)	2						CTGACTCTCTGAGAGGGAAGC	0.552		NaN											0	0	0	0.016723	0	9	13				
TP53	7157	broad.mit.edu	37	17	7578500	7578500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:7578500G>A	uc002gim.2	-	5	624	c.430C>T	c.(430-432)CAG>TAG	p.Q144*	TP53_uc002gig.1_Nonsense_Mutation_p.Q144*|TP53_uc002gih.2_Nonsense_Mutation_p.Q144*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q12*|TP53_uc010cng.1_Nonsense_Mutation_p.Q12*|TP53_uc002gii.1_Nonsense_Mutation_p.Q12*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q144*|TP53_uc010cni.1_Nonsense_Mutation_p.Q144*|TP53_uc002gij.2_Nonsense_Mutation_p.Q144*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.Q51*|TP53_uc002gio.2_Nonsense_Mutation_p.Q12*|TP53_uc010vug.1_Nonsense_Mutation_p.Q105*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	144	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q -> P (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q144*(29)|p.Q144L(8)|p.0?(7)|p.Q144H(4)|p.Q144P(4)|p.Q144R(4)|p.Q144fs*26(3)|p.Q144K(2)|p.Q144del(2)|p.Q144Q(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.V143_S149del(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		ACCCACAGCTGCACAGGGCAG	0.597		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			0	0	0	0.013726	0	32	39		Valid		
MYH3	4621	broad.mit.edu	37	17	10545784	10545784	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:10545784G>C	uc002gmq.1	-	15	1915	c.1838C>G	c.(1837-1839)TCT>TGT	p.S613C		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	613	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						CCTGTTGGAAGACTTCTGGTA	0.542		NaN											0	0	0	0.01441	0	48	22				
TMEM132E	124842	broad.mit.edu	37	17	32964390	32964390	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:32964390C>T	uc002hif.2	+	10	2422	c.2094C>T	c.(2092-2094)ACC>ACT	p.T698T		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	698	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		CAGAGCTAACCATCGCTGAGA	0.642		NaN											0	0	0	0.00308	0	7	47				
DUSP14	11072	broad.mit.edu	37	17	35872428	35872428	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:35872428G>A	uc002hnx.2	+	3	348	c.54G>A	c.(52-54)ATG>ATA	p.M18I	DUSP14_uc002hny.2_Missense_Mutation_p.M5I|DUSP14_uc002hnz.2_Missense_Mutation_p.M5I	NM_007026	NP_008957	O95147	DUS14_HUMAN	dual specificity phosphatase 14	18							MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		Breast(25;0.00637)|Ovarian(249;0.15)				CCCCTCGGATGATTTCCGAGG	0.577		NaN											0	0	0	0.01441	0	51	31				
ERBB2	2064	broad.mit.edu	37	17	37879903	37879903	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:37879903C>T	uc002hso.2	+	18	2436	c.2198C>T	c.(2197-2199)ACA>ATA	p.T733I	ERBB2_uc002hsm.2_Missense_Mutation_p.T703I|ERBB2_uc010cwa.2_Missense_Mutation_p.T718I|ERBB2_uc002hsp.2_Missense_Mutation_p.T536I|ERBB2_uc010cwb.2_Missense_Mutation_p.T733I|ERBB2_uc010wek.1_Missense_Mutation_p.T457I	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	733	Cytoplasmic (Potential).|Protein kinase.|ATP (By similarity).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.T733I(1)		lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GCTTTTGGCACAGTCTACAAG	0.637		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			0	0	0	0.01441	0	103	7		Valid		
IKZF3	22806	broad.mit.edu	37	17	37947792	37947792	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:37947792G>A	uc002hsu.2	-	5	531	c.469C>T	c.(469-471)CAG>TAG	p.Q157*	IKZF3_uc002htd.2_Nonsense_Mutation_p.Q123*|IKZF3_uc010cwd.2_Intron|IKZF3_uc002hsv.2_Nonsense_Mutation_p.Q123*|IKZF3_uc010cwe.2_Intron|IKZF3_uc010cwf.2_Intron|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Nonsense_Mutation_p.Q157*|IKZF3_uc002hsx.2_Intron|IKZF3_uc002hsy.2_Nonsense_Mutation_p.Q157*|IKZF3_uc002hsz.2_Intron|IKZF3_uc002hta.2_Nonsense_Mutation_p.Q157*|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Nonsense_Mutation_p.Q70*|IKZF3_uc002htc.2_Intron	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	aiolos isoform 1	157	C2H2-type 2.				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)|kidney(2)|skin(2)	6	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TTACCTTTCTGAGTAAAAGAT	0.448		NaN											0	0	0	0.01441	0	809	81				
KRTAP4-11	653240	broad.mit.edu	37	17	39274205	39274205	+	Silent	SNP	T	T	C	rs80322614		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:39274205T>C	uc002hvz.2	-	1	402	c.363A>G	c.(361-363)AGA>AGG	p.R121R		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	121	20.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agcactggggtctgcagcagc	0.095		NaN											0	0	0	0.004482	0	3	11				
STH	246744	broad.mit.edu	37	17	44076789	44076789	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:44076789C>T	uc002ijy.2	+	1	174	c.144C>T	c.(142-144)CTC>CTT	p.L48L	MAPT_uc010dau.2_Intron|MAPT_uc002ijr.3_Intron|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	NM_001007532	NP_001007533	Q8IWL8	STH_HUMAN	saitohin	48						cytoplasm|nucleus					0						ACAGAACCCTCAGCTTAGCAT	0.418		NaN											0	0	0	0.004482	0	9	38				
ITGA3	3675	broad.mit.edu	37	17	48153806	48153806	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:48153806C>T	uc010dbl.2	+	13	2255	c.1791C>T	c.(1789-1791)CTC>CTT	p.L597L	ITGA3_uc010dbm.2_Silent_p.L597L	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor	597	Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3						ACCCGATCCTCAACCAGGCAC	0.647		NaN											0	0	0	0.010818	0	32	160				
SAMD14	201191	broad.mit.edu	37	17	48190393	48190393	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:48190393G>A	uc002iqg.2	-	10	1417	c.1118C>T	c.(1117-1119)TCT>TTT	p.S373F	SAMD14_uc002iqd.2_Missense_Mutation_p.S156F|SAMD14_uc002iqe.2_Missense_Mutation_p.S156F|SAMD14_uc002iqf.2_Missense_Mutation_p.S401F	NM_174920	NP_777580	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	373	SAM.										0						CCGGTCATGAGAGTTGCTGAG	0.657		NaN											0	0	0	0.001984	0	6	33				
CHAD	1101	broad.mit.edu	37	17	48545626	48545626	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:48545626C>T	uc010dbr.2	-	1	602	c.549G>A	c.(547-549)TTG>TTA	p.L183L	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Silent_p.L183L|ACSF2_uc010dbt.1_5'Flank	NM_001267	NP_001258	O15335	CHAD_HUMAN	chondroadherin precursor	183	LRR 5.				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			ovary(2)|central_nervous_system(1)	3	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCAGGGAGCTCAACGCGTTTT	0.622		NaN											0	0	0	0.016723	0	12	114				
AXIN2	8313	broad.mit.edu	37	17	63533517	63533517	+	Missense_Mutation	SNP	C	C	T	rs145717795	byFrequency	TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:63533517C>T	uc002jfi.2	-	6	1926	c.1637G>A	c.(1636-1638)GGC>GAC	p.G546D	AXIN2_uc002jfh.2_Missense_Mutation_p.G546D	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	546					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2						ATACTCGCTGCCCCCAGGGCA	0.612		NaN							Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome				0	0	0	0.006214	0	10	110				
CBX4	8535	broad.mit.edu	37	17	77808682	77808682	+	Silent	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:77808682G>C	uc002jxe.2	-	5	922	c.759C>G	c.(757-759)GTC>GTG	p.V253V		NM_003655	NP_003646	O00257	CBX4_HUMAN	chromobox homolog 4	253	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			skin(2)	2			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCTTGTTCTTGACTATCTTCA	0.577		NaN									OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	130	164				
LPIN2	9663	broad.mit.edu	37	18	2954522	2954522	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr18:2954522C>T	uc002klo.2	-	3	507	c.268G>A	c.(268-270)GAG>AAG	p.E90K		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	lipin 2	90	N-LIP.				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			ovary(1)|skin(1)	2				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TCAGTCTCCTCAACAAAGAAA	0.453		NaN											0	0	0	0.007413	0	18	23				
ABHD3	171586	broad.mit.edu	37	18	19231568	19231568	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr18:19231568C>A	uc002ktl.2	-	9	1354	c.1214G>T	c.(1213-1215)GGA>GTA	p.G405V	ABHD3_uc002ktm.2_Missense_Mutation_p.G352V|ABHD3_uc002ktk.2_Missense_Mutation_p.G210V	NM_138340	NP_612213	Q8WU67	ABHD3_HUMAN	alpha/beta hydrolase domain containing protein	405						integral to membrane	carboxylesterase activity			central_nervous_system(1)	1						GAGTTCATGTCCATGCTCAAC	0.423		NaN											1	0	7.41606e-26	0.01441	8.65534e-26	58	46				
MIB1	57534	broad.mit.edu	37	18	19359586	19359586	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr18:19359586G>C	uc002ktq.2	+	6	848	c.848G>C	c.(847-849)GGA>GCA	p.G283A	MIB1_uc002ktp.2_5'UTR	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	mindbomb homolog 1	283					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(5;0.212)			ACTACAACTGGAACTGTTTGT	0.388		NaN											0	0	0	0.01441	0	75	88				
C18orf34	374864	broad.mit.edu	37	18	30903591	30903591	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr18:30903591C>T	uc002kxn.2	-	10	1028	c.886G>A	c.(886-888)GAC>AAC	p.D296N	C18orf34_uc010xbr.1_Missense_Mutation_p.D296N|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.D296N|C18orf34_uc002kxp.2_Missense_Mutation_p.D296N	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	296	Potential.									ovary(1)	1						CTGTGTAGGTCCATTACCTAG	0.294		NaN											0	0	0	0.009096	0	4	2				
MALT1	10892	broad.mit.edu	37	18	56348424	56348424	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr18:56348424T>C	uc002lhm.1	+	2	490	c.232T>C	c.(232-234)TCT>CCT	p.S78P	MALT1_uc002lhn.1_Missense_Mutation_p.S78P	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma	78	Death.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			ovary(2)|lung(1)|central_nervous_system(1)	4						GGAGCAGTGTTCTCTTAAGGT	0.463		NaN	T	BIRC3	MALT								0	0	0	0.010771	0	36	21				
ATP8B3	148229	broad.mit.edu	37	19	1796870	1796870	+	Silent	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:1796870G>C	uc002ltw.2	-	16	1827	c.1593C>G	c.(1591-1593)CCC>CCG	p.P531P	ATP8B3_uc002ltv.2_Silent_p.P484P|ATP8B3_uc002ltx.2_RNA	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	531	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGAGGTAGGGGTTCTCCT	0.716		NaN											0	0	0	0.004672	0	3	22				
STAP2	55620	broad.mit.edu	37	19	4338736	4338736	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:4338736C>T	uc002mab.2	-	1	112	c.15G>A	c.(13-15)CTG>CTA	p.L5L	STAP2_uc002mac.2_Silent_p.L5L|STAP2_uc002mad.2_5'UTR	NM_001013841	NP_001013863	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	5						cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGTGGCCTCAGGGCAGAGG	0.627		NaN											0	0	0	0.010729	0	9	26				
VAV1	7409	broad.mit.edu	37	19	6836572	6836572	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:6836572G>A	uc002mfu.1	+	20	2004	c.1907G>A	c.(1906-1908)TGG>TAG	p.W636*	VAV1_uc010xjh.1_Nonsense_Mutation_p.W604*|VAV1_uc010dva.1_Nonsense_Mutation_p.W636*|VAV1_uc002mfv.1_Nonsense_Mutation_p.W581*	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	636	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						GAACAGAACTGGTGGGAGGTA	0.567		NaN											0	0	0	0.00308	0	7	24				
ANGPTL4	51129	broad.mit.edu	37	19	8431173	8431173	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:8431173G>A	uc002mjq.1	+	3	712	c.517G>A	c.(517-519)GAC>AAC	p.D173N	ANGPTL4_uc002mjr.1_Missense_Mutation_p.D173N|ANGPTL4_uc010xkc.1_Missense_Mutation_p.D6N	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4 protein isoform a precursor	173					angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			ovary(1)	1						CCAGCCAGTTGACCCGGCTCA	0.637		NaN											0	0	0	0.008871	0	18	32				
ANGPTL4	51129	broad.mit.edu	37	19	8431175	8431175	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:8431175C>A	uc002mjq.1	+	3	714	c.519C>A	c.(517-519)GAC>GAA	p.D173E	ANGPTL4_uc002mjr.1_Missense_Mutation_p.D173E|ANGPTL4_uc010xkc.1_Missense_Mutation_p.D6E	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4 protein isoform a precursor	173					angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			ovary(1)	1						AGCCAGTTGACCCGGCTCACA	0.632		NaN											1	0	1.33834e-09	0.007413	1.5138e-09	18	32				
MUC16	94025	broad.mit.edu	37	19	9076683	9076683	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:9076683G>T	uc002mkp.2	-	3	10967	c.10763C>A	c.(10762-10764)GCA>GAA	p.A3588E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3589	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGAATCTGATGCAGCTGTGGA	0.493		NaN											1	0	0.00116845	0.001168	0.00126318	6	76				
MYO9B	4650	broad.mit.edu	37	19	17321180	17321180	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:17321180G>A	uc010eak.2	+	37	5939	c.5787G>A	c.(5785-5787)GAG>GAA	p.E1929E	MYO9B_uc002nfi.2_Silent_p.E1929E|MYO9B_uc002nfj.1_Intron|MYO9B_uc002nfm.1_Silent_p.E89E	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	1929	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						CTCCCTATGAGGGGGTCCTGG	0.627		NaN											0	0	0	0.00308	0	8	6				
KCNN1	3780	broad.mit.edu	37	19	18092569	18092569	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:18092569G>A	uc002nht.2	+	5	860	c.550G>A	c.(550-552)GAG>AAG	p.E184K	KCNN1_uc010xqa.1_Missense_Mutation_p.E184K	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance	184	Helical; Name=Segment S3; (Potential).				synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity				0						CATGACCTGCGAGCGCGTGTT	0.662		NaN											0	0	0	0.004007	0	16	20				
KIAA1683	80726	broad.mit.edu	37	19	18377736	18377736	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:18377736G>A	uc002nin.2	-	3	830	c.614C>T	c.(613-615)CCC>CTC	p.P205L	KIAA1683_uc010ebn.2_Missense_Mutation_p.P205L|KIAA1683_uc010xqe.1_Missense_Mutation_p.P159L	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	205						mitochondrion				ovary(2)	2						GGACGACTGGGGTCTGCAGAG	0.642		NaN											0	0	0	0.004482	0	9	29				
ZNF99	7652	broad.mit.edu	37	19	22941314	22941314	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:22941314G>A	uc010xrh.1	-	5	1124	c.1124C>T	c.(1123-1125)TCA>TTA	p.S375L		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTAAGGGCTGAAAAATTGCT	0.358		NaN											0	0	0	0.00308	0	8	27				
GPI	2821	broad.mit.edu	37	19	34884959	34884959	+	Silent	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:34884959G>T	uc002nvg.1	+	12	1153	c.1050G>T	c.(1048-1050)GCG>GCT	p.A350A	GPI_uc002nvf.2_Silent_p.A389A|GPI_uc010xrv.1_Silent_p.A361A|GPI_uc010xrw.1_Silent_p.A322A|GPI_uc010edl.1_Silent_p.A350A|GPI_uc002nvi.1_Silent_p.A13A	NM_000175	NP_000166	P06744	G6PI_HUMAN	glucose phosphate isomerase	350					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			ovary(1)|kidney(1)	2	Esophageal squamous(110;0.162)					GCTTTGCTGCGTACTTCCAGC	0.582		NaN											1	0	0.00185496	0.016723	0.00200044	13	30				
GRAMD1A	57655	broad.mit.edu	37	19	35505212	35505212	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:35505212C>T	uc010xse.1	+	10	1127	c.990C>T	c.(988-990)ACC>ACT	p.T330T	GRAMD1A_uc002nxi.1_Silent_p.T417T|GRAMD1A_uc002nxk.2_Silent_p.T323T|GRAMD1A_uc002nxl.2_Silent_p.T96T|GRAMD1A_uc010xsf.1_Silent_p.T335T|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_5'Flank	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	330						integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGCCCACCACCCTGGGCCCCT	0.637		NaN											0	0	0	0.006999	0	32	63				
UPK1A	11045	broad.mit.edu	37	19	36157752	36157752	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:36157752C>T	uc002oaw.2	+	1	38	c.38C>T	c.(37-39)TCT>TTT	p.S13F	UPK1A_uc010eeh.2_Missense_Mutation_p.S13F	NM_007000	NP_008931	O00322	UPK1A_HUMAN	uroplakin 1A	13	Cytoplasmic (Potential).				epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity				0	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGAAGGGATCTCCAGTTGTG	0.622		NaN											0	0	0	0.016522	0	24	52				
ZFP14	57677	broad.mit.edu	37	19	36832186	36832186	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:36832186A>C	uc002odx.1	-	4	635	c.542T>G	c.(541-543)TTT>TGT	p.F181C	ZFP14_uc010xtd.1_Missense_Mutation_p.F182C|ZFP14_uc010eex.1_Missense_Mutation_p.F181C	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	zinc finger protein 14-like	181	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.162)					GCGACGAATAAAGGTCTTCCT	0.403		NaN											0	0	0	0.01892	0	24	52				
ZNF571	51276	broad.mit.edu	37	19	38055989	38055989	+	Silent	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:38055989A>G	uc002ogt.2	-	4	1442	c.1341T>C	c.(1339-1341)TTT>TTC	p.F447F	uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Silent_p.F447F	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	447	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTTACATTCAAAGGGTTTCT	0.388		NaN											0	0	0	0.001984	0	6	203				
YIF1B	90522	broad.mit.edu	37	19	38800271	38800271	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:38800271C>A	uc002ohz.2	-	2	120	c.71G>T	c.(70-72)AGG>ATG	p.R24M	YIF1B_uc002ohw.2_Translation_Start_Site|YIF1B_uc002ohx.2_Missense_Mutation_p.R9M|YIF1B_uc010xtx.1_Missense_Mutation_p.R7M|YIF1B_uc010xty.1_Translation_Start_Site|YIF1B_uc002oia.2_Missense_Mutation_p.R21M|YIF1B_uc002ohy.2_Missense_Mutation_p.R21M|YIF1B_uc002oib.2_Missense_Mutation_p.R21M	NM_001039672	NP_001034761	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B isoform 5	24	Cytoplasmic (Potential).					integral to membrane					0	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CACAGGGATCCTCCGCTTCGA	0.632		NaN											1	0	0.000157383	0.00308	0.000171833	5	82				
ITPKC	80271	broad.mit.edu	37	19	41223370	41223370	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:41223370G>A	uc002oot.2	+	1	363	c.330G>A	c.(328-330)AAG>AAA	p.K110K	ADCK4_uc002ooq.1_5'Flank|ADCK4_uc002oor.2_5'Flank|ADCK4_uc002oos.2_5'Flank	NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	inositol 1,4,5-trisphosphate 3-kinase C	110						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity				0			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGAGGCCCAAGCAAAAGACGG	0.622		NaN											0	0	0	0.00499	0	18	43				
ARHGEF1	9138	broad.mit.edu	37	19	42410644	42410644	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:42410644G>A	uc002orx.2	+	27	2636	c.2527G>A	c.(2527-2529)GAA>AAA	p.E843K	ARHGEF1_uc002ory.2_Missense_Mutation_p.E810K|ARHGEF1_uc002orz.2_Missense_Mutation_p.E681K|ARHGEF1_uc002osa.2_Missense_Mutation_p.E858K|ARHGEF1_uc002osb.2_Intron|ARHGEF1_uc002osc.2_Intron|ARHGEF1_uc002osd.2_Missense_Mutation_p.E502K|ARHGEF1_uc002ose.2_Missense_Mutation_p.E287K	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	843					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TCCGGCGGAGGAAGACAATGG	0.677		NaN											0	0	0	0.01892	0	22	38				
PHLDB3	653583	broad.mit.edu	37	19	44008260	44008260	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:44008260C>T	uc002own.3	-	2	270	c.11G>A	c.(10-12)CGA>CAA	p.R4Q	PHLDB3_uc002owo.2_Missense_Mutation_p.R4Q	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B,	4											0		Prostate(69;0.0153)				GGGGCTGCTTCGCGTCCCCAT	0.756		NaN											0	0	0	0.020292	0	14	6				
ZNF45	7596	broad.mit.edu	37	19	44418655	44418655	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:44418655C>G	uc002oxu.1	-	4	1032	c.933G>C	c.(931-933)AAG>AAC	p.K311N	ZNF45_uc002oxw.1_Missense_Mutation_p.K311N|ZNF45_uc002oxv.1_Missense_Mutation_p.K311N	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	zinc finger protein 45	311	C2H2-type 6.				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						AACTGAAGCTCTTCCCACACT	0.468		NaN											0	0	0	0.003163	0	16	47				
ERCC2	2068	broad.mit.edu	37	19	45867774	45867774	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:45867774T>C	uc002pbj.2	-	8	673	c.626A>G	c.(625-627)TAC>TGC	p.Y209C	ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Missense_Mutation_p.Y131C|ERCC2_uc002pbk.2_Missense_Mutation_p.Y185C|ERCC2_uc002pbl.3_Missense_Mutation_p.Y185C|ERCC2_uc010xxj.1_Intron	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	209	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GAGGTAGTGGTAGCTATAAAC	0.632		NaN	Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	0.020292	0	14	39		Valid		
LMTK3	114783	broad.mit.edu	37	19	49005723	49005723	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:49005723A>G	uc002pjk.2	-	8	848	c.848T>C	c.(847-849)CTG>CCG	p.L283P		NM_001080434	NP_001073903			lemur tyrosine kinase 3											lung(5)|central_nervous_system(1)	6		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CAGGTGCGCCAGCCCGCGGGC	0.711		NaN											0	0	0	0.010729	0	11	70				
PTH2	113091	broad.mit.edu	37	19	49925885	49925885	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:49925885C>T	uc002pnn.1	-	2	245	c.143G>A	c.(142-144)GGA>GAA	p.G48E		NM_178449	NP_848544	Q96A98	TIP39_HUMAN	parathyroid hormone 2 preproprotein	48					neuropeptide signaling pathway	extracellular region					0				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		CCAGGCCCGTCCTGGGGGGCG	0.756		NaN											0	0	0	0.014758	0	5	6				
FUZ	80199	broad.mit.edu	37	19	50311871	50311871	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:50311871C>T	uc002ppq.1	-	9	1023	c.918G>A	c.(916-918)CTG>CTA	p.L306L	FUZ_uc002ppr.1_Silent_p.L206L|FUZ_uc002pps.1_RNA|FUZ_uc002ppt.1_RNA|FUZ_uc002ppu.1_Silent_p.L270L|FUZ_uc002ppv.1_Silent_p.L256L	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN	fuzzy homolog	306	Leu-rich.				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		GGCAGCGCTTCAGTTCCAGGT	0.657		NaN											0	0	0	0.020292	0	13	13				
FUZ	80199	broad.mit.edu	37	19	50312751	50312751	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:50312751C>T	uc002ppq.1	-	6	679	c.574G>A	c.(574-576)GAG>AAG	p.E192K	FUZ_uc002ppr.1_Missense_Mutation_p.E92K|FUZ_uc002pps.1_RNA|FUZ_uc002ppt.1_RNA|FUZ_uc002ppu.1_Missense_Mutation_p.E156K|FUZ_uc002ppv.1_Missense_Mutation_p.E142K	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN	fuzzy homolog	192					cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		CACCAACCCTCTGTTGCTGCC	0.721		NaN											0	0	0	0.009096	0	4	11				
ITSN2	50618	broad.mit.edu	37	2	24535188	24535188	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:24535188G>A	uc002rfe.2	-	5	503	c.245C>T	c.(244-246)GCT>GTT	p.A82V	ITSN2_uc002rff.2_Missense_Mutation_p.A82V|ITSN2_uc002rfg.2_Missense_Mutation_p.A82V|ITSN2_uc010eyd.2_Missense_Mutation_p.A82V	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	82	EH 1.|EF-hand 1.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGTTTCATAGCTATGGAGAA	0.443		NaN											0	0	0	0.00874	0	40	58				
ZNF513	130557	broad.mit.edu	37	2	27603386	27603386	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:27603386C>T	uc002rkk.2	-	1	208	c.8G>A	c.(7-9)CGA>CAA	p.R3Q	ZNF513_uc002rkj.2_5'Flank	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	3					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGCTTCCTTCGGGGCATCGT	0.697		NaN											0	0	0	0.006214	0	7	8				
BIRC6	57448	broad.mit.edu	37	2	32738106	32738107	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:32738106_32738107GG>AT	uc010ezu.2	+	54	10587_10588	c.10453_10454GG>AT	c.(10453-10455)GGT>ATT	p.G3485I		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	3485					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					AGTAGAGTATGGTCTTCTGATG	0.455		NaN											0	0	0	0.004672	0	10	81				
MAP4K3	8491	broad.mit.edu	37	2	39499674	39499674	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:39499674G>A	uc002rro.2	-	25	1895	c.1804C>T	c.(1804-1806)CGA>TGA	p.R602*	MAP4K3_uc002rrp.2_Nonsense_Mutation_p.R581*|MAP4K3_uc010yns.1_Nonsense_Mutation_p.R155*	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase	602	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(3)|lung(3)|stomach(1)|pancreas(1)	8		all_hematologic(82;0.211)				GTACACCTTCGAGGGAATAGC	0.294		NaN											0	0	0	0.005524	0	32	72				
SPRED2	200734	broad.mit.edu	37	2	65543912	65543912	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:65543912G>A	uc002sdr.3	-	5	1079	c.544C>T	c.(544-546)CAC>TAC	p.H182Y	SPRED2_uc010fcw.2_Missense_Mutation_p.H179Y	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	sprouty-related protein with EVH-1 domain 2	182					inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			ovary(1)|lung(1)|central_nervous_system(1)	3						TCGTGGAGGTGGCCCAGGGTA	0.537		NaN											0	0	0	0.004482	0	9	25				
SLC4A5	57835	broad.mit.edu	37	2	74531720	74531720	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:74531720T>G	uc002sko.1	-	2	169	c.167A>C	c.(166-168)AAA>ACA	p.K56T	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.K56T|SLC4A5_uc010ffc.1_Missense_Mutation_p.K56T|SLC4A5_uc002skp.1_Intron|SLC4A5_uc002sks.1_Missense_Mutation_p.K56T	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	56	Cytoplasmic (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						CCAGTGGACTTTTTGCAGGCC	0.572		NaN											0	0	0	0.012213	0	32	182				
DQX1	165545	broad.mit.edu	37	2	74752218	74752218	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:74752218C>T	uc010yrw.1	-	3	514	c.349G>A	c.(349-351)GAT>AAT	p.D117N	DQX1_uc002smc.2_5'Flank	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	117	Helicase ATP-binding.					nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2						TCCATCTCATCAGCAACCCGC	0.622		NaN											0	0	0	0.013726	0	33	179				
REG1B	5968	broad.mit.edu	37	2	79312628	79312628	+	Silent	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:79312628A>C	uc002sny.2	-	5	535	c.423T>G	c.(421-423)ACT>ACG	p.T141T		NM_006507	NP_006498	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta precursor	141	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|skin(1)	2						CTGAGCATGAAGTCAGGCTTG	0.547		NaN											0	0	0	0.021022	0	37	81				
CTNNA2	1496	broad.mit.edu	37	2	80646672	80646672	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:80646672G>A	uc010ysh.1	+	8	1241	c.1236G>A	c.(1234-1236)AAG>AAA	p.K412K	CTNNA2_uc010yse.1_Silent_p.K412K|CTNNA2_uc010ysf.1_Silent_p.K412K|CTNNA2_uc010ysg.1_Silent_p.K412K|CTNNA2_uc010ysi.1_Silent_p.K44K	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	412					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						GAAATGAAAAGGAAGTGAAAG	0.453		NaN											0	0	0	0.01892	0	24	64				
TRIM43	129868	broad.mit.edu	37	2	96259801	96259801	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:96259801G>C	uc002suv.2	+	2	166	c.30G>C	c.(28-30)CAG>CAC	p.Q10H		NM_138800	NP_620155	Q96BQ3	TRI43_HUMAN	tripartite motif-containing 43	10						intracellular	zinc ion binding			ovary(1)	1						ATGCCTTCCAGAAGGAACTCA	0.483		NaN											0	0	0	0.01441	0	108	99				
SULT1C4	27233	broad.mit.edu	37	2	108999925	108999925	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:108999925A>G	uc002tea.1	+	5	947	c.574A>G	c.(574-576)AAA>GAA	p.K192E	SULT1C4_uc010ywr.1_RNA|SULT1C4_uc002teb.1_Missense_Mutation_p.K117E	NM_006588	NP_006579	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member	192					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity				0						AGCCAAAGACAAACACCGTAT	0.463		NaN											0	0	0	0.01441	0	48	28				
LIMS1	3987	broad.mit.edu	37	2	109292446	109292446	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:109292446C>G	uc002teg.2	+	6	726	c.607C>G	c.(607-609)CGC>GGC	p.R203G	LIMS1_uc002tef.2_Missense_Mutation_p.R215G|LIMS1_uc002teh.2_Missense_Mutation_p.R203G|LIMS1_uc002tei.2_Missense_Mutation_p.R203G|LIMS1_uc002tej.2_Missense_Mutation_p.R240G|LIMS1_uc002tek.3_Missense_Mutation_p.R265G	NM_004987	NP_004978	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	203	LIM zinc-binding 4.				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding				0						CATCGAAGGGCGCGTGGTGAA	0.542		NaN											0	0	0	0.007835	0	43	26				
ACTR3	10096	broad.mit.edu	37	2	114713209	114713209	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:114713209A>G	uc002tkx.1	+	11	1407	c.1087A>G	c.(1087-1089)ATT>GTT	p.I363V	ACTR3_uc010yyc.1_Missense_Mutation_p.I301V|ACTR3_uc010yyd.1_Missense_Mutation_p.I312V	NM_005721	NP_005712	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog	363					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding			skin(1)	1						GCCAAAACCTATTGATGTACA	0.343		NaN											0	0	0	0.001984	0	7	60				
CNTNAP5	129684	broad.mit.edu	37	2	125175130	125175130	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:125175130G>C	uc002tno.2	+	4	856	c.492G>C	c.(490-492)AAG>AAC	p.K164N	CNTNAP5_uc010flu.2_Missense_Mutation_p.K164N	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	164	F5/8 type C.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCAGTGGGAAGATTGGCATGA	0.498		NaN											0	0	0	0.008291	0	10	9				
RIF1	55183	broad.mit.edu	37	2	152317679	152317679	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:152317679G>T	uc002txm.2	+	27	3233	c.3103G>T	c.(3103-3105)GTA>TTA	p.V1035L	RIF1_uc002txl.2_Missense_Mutation_p.V1035L|RIF1_uc002txn.2_Missense_Mutation_p.V1035L|RIF1_uc002txo.2_Missense_Mutation_p.V1035L|RIF1_uc002txp.2_5'Flank	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	1035					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GTCTTTAAAAGTAAAGGGTGA	0.318		NaN											1	0	6.31663e-08	0.003163	7.0541e-08	14	47				
CYTIP	9595	broad.mit.edu	37	2	158272436	158272436	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:158272436G>A	uc002tzj.1	-	8	905	c.833C>T	c.(832-834)ACG>ATG	p.T278M	CYTIP_uc010zcl.1_Missense_Mutation_p.T172M	NM_004288	NP_004279	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	278	Ser-rich.			T -> Q (in Ref. 5; AAA16575).	regulation of cell adhesion	cell cortex|early endosome	protein binding			ovary(1)|kidney(1)|skin(1)	3						ATCTGTACTCGTCTGCCGACT	0.542		NaN											0	0	0	0.007413	0	20	50				
DCAF17	80067	broad.mit.edu	37	2	172305301	172305301	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:172305301A>G	uc002ugx.2	+	4	661	c.432A>G	c.(430-432)ATA>ATG	p.I144M	DCAF17_uc010zdq.1_RNA|DCAF17_uc010fqf.1_Missense_Mutation_p.I144M|DCAF17_uc010zdr.1_RNA	NM_025000	NP_079276	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17 isoform 1	144						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus					0						TTGAGAAAATATATCTTGCAC	0.333		NaN											0	0	0	0.012319	0	20	39				
EVX2	344191	broad.mit.edu	37	2	176947052	176947052	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:176947052C>T	uc010zeu.1	-	2	739	c.553G>A	c.(553-555)GCG>ACG	p.A185T		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	185						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		ACTTGATCCGCGCCAGAGCCG	0.721		NaN											0	0	0	0.004672	0	3	11				
TTN	7273	broad.mit.edu	37	2	179433786	179433786	+	Silent	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:179433786A>G	uc010zfg.1	-	275	69593	c.69369T>C	c.(69367-69369)GAT>GAC	p.D23123D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.D16818D|TTN_uc010zfi.1_Silent_p.D16751D|TTN_uc010zfj.1_Silent_p.D16626D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24050							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTAATTGGATCAGCAGTCT	0.438		NaN											0	0	0	0.013726	0	34	79				
TTN	7273	broad.mit.edu	37	2	179475984	179475984	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:179475984C>T	uc010zfg.1	-	219	43392	c.43168G>A	c.(43168-43170)GAC>AAC	p.D14390N	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D8085N|TTN_uc010zfi.1_Missense_Mutation_p.D8018N|TTN_uc010zfj.1_Missense_Mutation_p.D7893N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15317							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTCCAGGTCAATTGTTGGC	0.353		NaN											0	0	0	0.020292	0	14	14				
CCDC141	285025	broad.mit.edu	37	2	179742771	179742771	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:179742771C>T	uc002unf.1	-	2	151	c.94G>A	c.(94-96)GAG>AAG	p.E32K	CCDC141_uc002ung.2_Missense_Mutation_p.E607K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	32							protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CACTGCTTCTCAGCCGAGTCA	0.378		NaN											0	0	0	0.01892	0	26	35				
ITGA4	3676	broad.mit.edu	37	2	182347105	182347105	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:182347105G>A	uc002unu.2	+	8	1622	c.859G>A	c.(859-861)GAT>AAT	p.D287N	ITGA4_uc010zfl.1_Missense_Mutation_p.D287N	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	287	FG-GAP 4.|Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ATTCAGCATTGATGAAAAAGA	0.308		NaN											0	0	0	0.003163	0	15	35				
CALCRL	10203	broad.mit.edu	37	2	188245285	188245285	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:188245285T>C	uc002upv.3	-	7	865	c.317A>G	c.(316-318)GAC>GGC	p.D106G	CALCRL_uc010frt.2_Missense_Mutation_p.D106G	NM_005795	NP_005786	Q16602	CALRL_HUMAN	calcitonin receptor-like precursor	106	Extracellular (Potential).					integral to plasma membrane				lung(3)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TCCATCTTGGTCACAGATCTT	0.328		NaN											0	0	0	0.015359	0	35	86				
DNAH7	56171	broad.mit.edu	37	2	196729415	196729415	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:196729415G>T	uc002utj.3	-	41	7065	c.6964C>A	c.(6964-6966)CAC>AAC	p.H2322N		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2322	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						CTGCTGATGTGCTCTATGGCA	0.448		NaN											1	0	3.59834e-05	0.001168	3.97806e-05	5	60				
DNAH7	56171	broad.mit.edu	37	2	196877531	196877531	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:196877531G>A	uc002utj.3	-	10	1070	c.969C>T	c.(967-969)GCC>GCT	p.A323A		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	323	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						GAGTCTCTTTGGCAGAGTCCA	0.323		NaN											0	0	0	0.006214	0	8	55				
NIF3L1	60491	broad.mit.edu	37	2	201757014	201757014	+	Silent	SNP	T	T	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:201757014T>A	uc002uwm.2	+	2	439	c.348T>A	c.(346-348)GCT>GCA	p.A116A	NIF3L1_uc002uwl.2_Silent_p.A89A|NIF3L1_uc002uwn.2_Silent_p.A89A|NIF3L1_uc002uwo.2_Silent_p.A116A|NIF3L1_uc002uwp.2_Silent_p.A116A|NIF3L1_uc002uwq.2_Silent_p.A116A	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 isoform 1	116					positive regulation of transcription, DNA-dependent		transcription factor binding			skin(1)	1						TGATCCGGGCTCTGGAGAACA	0.547		NaN											0	0	0	0.009535	0	30	53				
IHH	3549	broad.mit.edu	37	2	219920154	219920154	+	Silent	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:219920154T>G	uc002vjo.1	-	3	1011	c.1011A>C	c.(1009-1011)ACA>ACC	p.T337T		NM_002181	NP_002172	Q14623	IHH_HUMAN	Indian hedgehog homolog precursor	337					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)	1		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACCACCAGTGTCCCATGCT	0.662		NaN											0	0	0	0.021523	0	23	28				
ABCB6	10058	broad.mit.edu	37	2	220075494	220075494	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:220075494T>C	uc002vkc.1	-	16	2472	c.2195A>G	c.(2194-2196)AAG>AGG	p.K732R	ABCB6_uc010fwe.1_Missense_Mutation_p.K686R	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B, member 6	732	ABC transporter.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACGCGCTGCTTCTCCCCGCC	0.622		NaN											0	0	0	0.008291	0	8	28				
UGT1A9	54600	broad.mit.edu	37	2	234580786	234580786	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:234580786C>A	uc002vus.2	+	1	243	c.206C>A	c.(205-207)TCA>TAA	p.S69*	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Nonsense_Mutation_p.S69*	NM_021027	NP_066307	O60656	UD19_HUMAN	UDP glycosyltransferase 1 family, polypeptide A9	69					drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding			ovary(3)|breast(1)|skin(1)	5		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398)	CTGGGAAGATCACTGAATTGC	0.498		NaN											1	0	1.36491e-13	0.016723	1.56804e-13	14	91				
COL6A3	1293	broad.mit.edu	37	2	238283323	238283323	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:238283323G>A	uc002vwl.2	-	8	3696	c.3411C>T	c.(3409-3411)ATC>ATT	p.I1137I	COL6A3_uc002vwo.2_Silent_p.I931I|COL6A3_uc010znj.1_Silent_p.I530I|COL6A3_uc002vwq.2_Silent_p.I931I|COL6A3_uc002vwr.2_Silent_p.I730I	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1137	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCGTGAGGACGATCAGCAGCT	0.637		NaN											0	0	0	0.009535	0	26	43				
CDC25B	994	broad.mit.edu	37	20	3781635	3781635	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr20:3781635G>A	uc002wjn.2	+	7	1378	c.600G>A	c.(598-600)AAG>AAA	p.K200K	CDC25B_uc010zqk.1_Silent_p.K136K|CDC25B_uc010zql.1_Silent_p.K122K|CDC25B_uc010zqm.1_Silent_p.K136K|CDC25B_uc002wjl.2_Silent_p.K88K|CDC25B_uc002wjm.2_Silent_p.K88K|CDC25B_uc002wjo.2_Silent_p.K186K|CDC25B_uc002wjp.2_Silent_p.K159K|CDC25B_uc002wjq.2_5'UTR|CDC25B_uc010gbc.2_5'Flank	NM_021873	NP_068659	P30305	MPIP2_HUMAN	cell division cycle 25B isoform 1	200					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			lung(3)|ovary(2)	5						TTGTCTTCAAGATGCCATGGA	0.637		NaN											0	0	0	0.013537	0	13	24				
THBD	7056	broad.mit.edu	37	20	23029241	23029241	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr20:23029241C>T	uc002wss.2	-	1	1061	c.901G>A	c.(901-903)GAC>AAC	p.D301N	THBD_uc002wst.1_5'Flank|THBD_uc002wsu.1_Missense_Mutation_p.D242N	NM_000361	NP_000352	P07204	TRBM_HUMAN	thrombomodulin precursor	301	EGF-like 2.|Extracellular (Potential).				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity				0	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	CCCGGCTGGTCGGGGTTGGGA	0.697		NaN											0	0	0	0.013537	0	13	17				
PHF20	51230	broad.mit.edu	37	20	34487428	34487428	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr20:34487428G>A	uc002xek.1	+	10	1530	c.1419G>A	c.(1417-1419)ATG>ATA	p.M473I	PHF20_uc002xei.1_Missense_Mutation_p.M473I|PHF20_uc010gfo.1_Missense_Mutation_p.M473I|PHF20_uc002xej.1_Missense_Mutation_p.M357I	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	473	C2H2-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					ACTATCACATGAAGTATTTCC	0.478		NaN											0	0	0	0.013537	0	11	29				
ZHX3	23051	broad.mit.edu	37	20	39832302	39832302	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr20:39832302C>T	uc002xjs.1	-	3	1633	c.1255G>A	c.(1255-1257)GAG>AAG	p.E419K	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.E419K|ZHX3_uc002xjt.1_Missense_Mutation_p.E419K|ZHX3_uc002xju.1_Missense_Mutation_p.E419K|ZHX3_uc002xjv.1_Missense_Mutation_p.E419K|ZHX3_uc002xjw.1_Missense_Mutation_p.E419K|ZHX3_uc010ggg.1_Missense_Mutation_p.E419K	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	419	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)				CCTGTACCCTCTGGCTGCCCC	0.582		NaN											0	0	0	0.007291	0	29	35				
CYP24A1	1591	broad.mit.edu	37	20	52774035	52774035	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr20:52774035C>T	uc002xwv.2	-	10	1724	c.1326G>A	c.(1324-1326)CAG>CAA	p.Q442Q	CYP24A1_uc002xwu.1_Silent_p.Q300Q|CYP24A1_uc002xww.2_Intron	NM_000782	NP_000773	Q07973	CP24A_HUMAN	cytochrome P450 family 24 subfamily A	442					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TTTCCTTCTCCTGAAGCCAAC	0.428		NaN											0	0	0	0.006214	0	10	40				
SYCP2	10388	broad.mit.edu	37	20	58450426	58450426	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr20:58450426C>G	uc002yaz.2	-	33	3388	c.3249G>C	c.(3247-3249)TGG>TGC	p.W1083C		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1083					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATGAGTTTTTCCATTGTTTTG	0.368		NaN											0	0	0	0.010729	0	12	15				
DOPEY2	9980	broad.mit.edu	37	21	37603050	37603050	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr21:37603050C>T	uc002yvg.2	+	14	2047	c.1968C>T	c.(1966-1968)TCC>TCT	p.S656S	DOPEY2_uc011aeb.1_Silent_p.S656S	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	656					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						AAAGCAAGTCCGAGGAGCCTG	0.542		NaN											0	0	0	0.006999	0	41	46				
HMGN1	3150	broad.mit.edu	37	21	40720485	40720485	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr21:40720485C>G	uc002yxo.2	-	2	238	c.34G>C	c.(34-36)GCC>CCC	p.A12P	HMGN1_uc002yxp.2_5'UTR|HMGN1_uc002yxq.2_5'UTR|HMGN1_uc002yxr.2_RNA	NM_004965	NP_004956	P05114	HMGN1_HUMAN	high-mobility group nucleosome binding domain 1	12					positive regulation of transcription elongation, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding			breast(1)	1		Prostate(19;8.69e-07)				TCCTTGGCGGCGCCTTCGGCG	0.677		NaN											0	0	0	0.001984	0	7	30				
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr21:44524456G>A	uc002zda.1	-	2	185	c.101C>T	c.(100-102)TCT>TTT	p.S34F	U2AF1_uc002zcy.1_5'UTR|U2AF1_uc002zcz.1_5'UTR|U2AF1_uc002zdb.1_Missense_Mutation_p.S34F|U2AF1_uc010gpi.1_Missense_Mutation_p.S34F|U2AF1_uc002zdc.1_Missense_Mutation_p.S34F	NM_001025203	NP_001020374	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxillary factor 1 isoform	34	C3H1-type 1.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding				0						GTGCAACCGAGAGCACCTGTC	0.358		NaN											0	0	0	0.004482	0	8	14				
TRAPPC10	7109	broad.mit.edu	37	21	45507706	45507706	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr21:45507706C>G	uc002zea.2	+	17	2835	c.2666C>G	c.(2665-2667)CCA>CGA	p.P889R	TRAPPC10_uc010gpo.2_Missense_Mutation_p.P600R|TRAPPC10_uc011afa.1_Missense_Mutation_p.P267R|TRAPPC10_uc011afb.1_5'Flank	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	889					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						CCTTCAGCCCCAGCACTCGGA	0.552		NaN											0	0	0	0.017118	0	37	58				
TRAPPC10	7109	broad.mit.edu	37	21	45518410	45518410	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr21:45518410A>T	uc002zea.2	+	21	3510	c.3341A>T	c.(3340-3342)TAT>TTT	p.Y1114F	TRAPPC10_uc010gpo.2_Missense_Mutation_p.Y825F|TRAPPC10_uc011afa.1_Missense_Mutation_p.Y492F|TRAPPC10_uc011afb.1_Missense_Mutation_p.Y219F	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1114					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						AAGCTTATGTATGAAGGTAGG	0.249		NaN											0	0	0	0.005524	0	38	56				
UFD1L	7353	broad.mit.edu	37	22	19462610	19462610	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr22:19462610G>A	uc002zpm.2	-	3	280	c.150C>T	c.(148-150)CCC>CCT	p.P50P	UFD1L_uc002zpo.2_Silent_p.P50P|UFD1L_uc011agy.1_Silent_p.P50P|UFD1L_uc002zpp.2_Silent_p.P3P|UFD1L_uc010grq.2_Silent_p.P3P|uc002zpq.1_5'Flank	NM_005659	NP_005650	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1-like isoform A	50					skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity				0	Colorectal(54;0.0993)					CCAGGGCCGAGGGTGGCATAA	0.373		NaN											0	0	0	0.015359	0	31	55				
ARVCF	421	broad.mit.edu	37	22	19965031	19965031	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr22:19965031G>A	uc002zqz.2	-	9	2048	c.1777C>T	c.(1777-1779)CAG>TAG	p.Q593*	ARVCF_uc002zqy.2_Nonsense_Mutation_p.Q115*	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	593	ARM 6.				cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					TCGGCCTCCTGGTACCTGTCG	0.662		NaN											0	0	0	0.01441	0	58	89				
JOSD1	9929	broad.mit.edu	37	22	39095872	39095872	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr22:39095872G>T	uc003awf.2	-	1	588	c.121C>A	c.(121-123)CTC>ATC	p.L41I		NM_014876	NP_055691	Q15040	JOS1_HUMAN	Josephin domain containing 1	41	Josephin.						peptidase activity				0	Melanoma(58;0.04)					ACGTTATTGAGGGCGTGGAGG	0.537		NaN											1	0	0.000602214	0.014758	0.000654258	5	195				
EP300	2033	broad.mit.edu	37	22	41565529	41565529	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr22:41565529G>T	uc003azl.3	+	26	4590	c.4195G>T	c.(4195-4197)GAT>TAT	p.D1399Y		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1399				D->Y: Does not interact with TFAP2A and inhibits transcriptional coactivation of TFAP2A by CITED2. Does not inhibit interaction with CITED2, DNA-binding of TFAP2A or nuclear localization of TFAP2A or CITED2.	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.D1399Y(1)		haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						ATCTTACCTCGATAGTGTTCA	0.338		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				1	0	1.08312e-15	0.009535	1.25085e-15	30	55		Valid		
L3MBTL2	83746	broad.mit.edu	37	22	41615486	41615486	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr22:41615486G>A	uc003azo.2	+	6	718	c.664G>A	c.(664-666)GAT>AAT	p.D222N	L3MBTL2_uc010gyi.1_Missense_Mutation_p.D131N|L3MBTL2_uc003azn.2_RNA|uc003azp.1_5'Flank	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2	222	MBT 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3						GCTCAACAGTGATGCTGTGCT	0.572		NaN											0	0	0	0.009718	0	39	53				
MEI1	150365	broad.mit.edu	37	22	42172208	42172208	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr22:42172208C>G	uc003baz.1	+	21	2672	c.2647C>G	c.(2647-2649)CGA>GGA	p.R883G	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Missense_Mutation_p.R269G|MEI1_uc003bbc.1_Missense_Mutation_p.R251G|MEI1_uc010gym.1_Missense_Mutation_p.R251G|MEI1_uc003bbd.1_Missense_Mutation_p.R126G|MEI1_uc010gyn.1_RNA|MEI1_uc003bbe.1_RNA	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	meiosis defective 1	883							binding			central_nervous_system(1)|skin(1)	2						CGGTCTTATCCGAGGCCACTT	0.562		NaN											0	0	0	0.00874	0	41	63				
ITPR1	3708	broad.mit.edu	37	3	4709127	4709127	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:4709127A>T	uc003bqa.2	+	18	2128	c.1780A>T	c.(1780-1782)ACT>TCT	p.T594S	ITPR1_uc010hca.1_Missense_Mutation_p.T579S|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.T579S	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	594	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGCTGAAGACACTATCACTGC	0.458		NaN											0	0	0	0.007835	0	43	15				
NUP210	23225	broad.mit.edu	37	3	13363766	13363766	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:13363766C>T	uc003bxv.1	-	35	4925	c.4842G>A	c.(4840-4842)CAG>CAA	p.Q1614Q		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1614	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					CCGGCTTGAACTGGGACTGGC	0.557		NaN											0	0	0	0.01441	0	153	99				
NEK10	152110	broad.mit.edu	37	3	27326126	27326126	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:27326126T>C	uc003cdt.1	-	23	2255	c.1981A>G	c.(1981-1983)ATT>GTT	p.I661V	NEK10_uc003cds.1_Missense_Mutation_p.I58V	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10 isoform 3	661	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						CCCAACATAATGTTGTTTGGT	0.328		NaN											0	0	0	0.013114	0	39	55				
TRANK1	9881	broad.mit.edu	37	3	36898029	36898029	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:36898029T>C	uc003cgj.2	-	3	1704	c.1402A>G	c.(1402-1404)ATC>GTC	p.I468V		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1018					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						TTGAGGTCGATCACCGCGTAC	0.537		NaN											0	0	0	0.01441	0	97	89				
XYLB	9942	broad.mit.edu	37	3	38442474	38442474	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:38442474C>A	uc003cic.2	+	18	1640	c.1531C>A	c.(1531-1533)CAG>AAG	p.Q511K	XYLB_uc011ayp.1_Missense_Mutation_p.Q374K|XYLB_uc003cid.1_Missense_Mutation_p.Q433K	NM_005108	NP_005099	O75191	XYLB_HUMAN	xylulokinase	511					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GGGAGCTTCTCAGGTGAGAGA	0.493		NaN											1	0	6.70999e-13	0.019004	7.66855e-13	37	54				
ANO10	55129	broad.mit.edu	37	3	43408465	43408465	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:43408465T>G	uc003cmv.2	-	13	2087	c.1916A>C	c.(1915-1917)CAA>CCA	p.Q639P	ANO10_uc011azs.1_3'UTR|ANO10_uc003cmw.2_Missense_Mutation_p.Q573P|ANO10_uc010hil.2_Missense_Mutation_p.Q449P|ANO10_uc011azt.1_Missense_Mutation_p.Q528P	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	transmembrane protein 16K	639	Cytoplasmic (Potential).				cell death	chloride channel complex	chloride channel activity			ovary(2)	2						GAGCTTCATTTGCTGTTAAGA	0.577		NaN											0	0	0	0.014758	0	4	13				
SETD2	29072	broad.mit.edu	37	3	47162291	47162291	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:47162291C>T	uc003cqs.2	-	3	3888	c.3835G>A	c.(3835-3837)GGA>AGA	p.G1279R	SETD2_uc003cqv.2_Missense_Mutation_p.G1268R	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCACAAGCTCCATAGCTACTG	0.473		NaN	N|F|S|Mis		clear cell renal carcinoma								0	0	0	0.004656	0	24	50		Valid		
PLXNB1	5364	broad.mit.edu	37	3	48463746	48463746	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:48463746C>T	uc003csw.2	-	5	1683	c.1413G>A	c.(1411-1413)CAG>CAA	p.Q471Q	PLXNB1_uc003csu.2_Silent_p.Q471Q|PLXNB1_uc003csx.2_Silent_p.Q471Q|PLXNB1_uc010hjx.1_RNA	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	471	Extracellular (Potential).|Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCACTGTGCTCTGGGTCATGA	0.597		NaN											0	0	0	0.001168	0	5	17				
BSN	8927	broad.mit.edu	37	3	49694316	49694316	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:49694316G>A	uc003cxe.3	+	5	7441	c.7327G>A	c.(7327-7329)GAA>AAA	p.E2443K		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2443	Potential.				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACTGCAGCGGGAACAGCTAGC	0.358		NaN											0	0	0	0.00308	0	8	5				
ZMYND10	51364	broad.mit.edu	37	3	50379288	50379288	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:50379288C>T	uc003dag.1	-	10	1220	c.1074G>A	c.(1072-1074)CAG>CAA	p.Q358Q	RASSF1_uc003dad.1_5'Flank|RASSF1_uc003dae.1_5'Flank|RASSF1_uc010hlk.1_5'Flank|RASSF1_uc003daf.1_5'Flank|RASSF1_uc011bdq.1_5'Flank|ZMYND10_uc010hll.1_Silent_p.Q353Q|ZMYND10_uc003dah.1_Silent_p.Q279Q	NM_015896	NP_056980	O75800	ZMY10_HUMAN	zinc finger, MYND domain-containing 10	358						cytoplasm	protein binding|zinc ion binding			lung(4)|ovary(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGAACACATGCTGGAGCTGGT	0.597		NaN								TSP Lung(30;0.18)			0	0	0	0.017118	0	36	32				
DNAH1	25981	broad.mit.edu	37	3	52404221	52404221	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:52404221C>T	uc011bef.1	+	39	6495	c.6234C>T	c.(6232-6234)TTC>TTT	p.F2078F		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2078					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGGACTGCTTCTTCAAGCCCT	0.572		NaN											0	0	0	0.020292	0	14	27				
C3orf63	23272	broad.mit.edu	37	3	56659005	56659005	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:56659005G>C	uc003did.3	-	21	4087	c.3986C>G	c.(3985-3987)ACG>AGG	p.T1329R	C3orf63_uc003dib.3_Missense_Mutation_p.T448R|C3orf63_uc003dic.3_Missense_Mutation_p.T953R|C3orf63_uc003die.3_Missense_Mutation_p.T1390R	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	1390										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		ATTCAGAAGCGTCAACAGACT	0.348		NaN											0	0	0	0.00308	0	6	60				
DNASE1L3	1776	broad.mit.edu	37	3	58178462	58178462	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:58178462G>A	uc003djo.1	-	8	967	c.870C>T	c.(868-870)AGC>AGT	p.S290S	DNASE1L3_uc011bfd.1_Silent_p.S260S|DNASE1L3_uc003djp.1_Silent_p.S290S|DNASE1L3_uc003djq.1_3'UTR	NM_004944	NP_004935	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3 precursor	290					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		CAGATTTTTTGCTGTTGGTGA	0.423		NaN											0	0	0	0.008361	0	30	82				
CRYBG3	131544	broad.mit.edu	37	3	97661173	97661173	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:97661173G>A	uc003drx.2	+	18	2930	c.2866G>A	c.(2866-2868)GGA>AGA	p.G956R	CRYBG3_uc010hoz.1_RNA|MINA_uc003dry.1_3'UTR|MINA_uc003drz.1_3'UTR|MINA_uc003dsa.1_3'UTR|MINA_uc003dsb.1_3'UTR|MINA_uc003dsc.1_3'UTR	NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0						GGACACACCTGGAGCTAAAGT	0.413		NaN											0	0	0	0.008871	0	20	48				
FAM55C	91775	broad.mit.edu	37	3	101540311	101540311	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:101540311A>G	uc003dvn.2	+	8	1830	c.1193A>G	c.(1192-1194)AAG>AGG	p.K398R	FAM55C_uc010hpn.2_Missense_Mutation_p.K398R	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	hypothetical protein LOC91775 precursor	398						extracellular region				ovary(1)|pancreas(1)|skin(1)	3						GTGGACCAGAAGCACAACATC	0.468		NaN											0	0	0	0.010729	0	12	24				
DZIP3	9666	broad.mit.edu	37	3	108343354	108343354	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:108343354G>A	uc003dxd.2	+	6	861	c.439G>A	c.(439-441)GAA>AAA	p.E147K	DZIP3_uc003dxf.1_Missense_Mutation_p.E147K|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Missense_Mutation_p.E147K	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	147					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						AGCACTCACTGAAAGAGGAAA	0.279		NaN											0	0	0	0.013537	0	12	33				
GOLGB1	2804	broad.mit.edu	37	3	121413222	121413222	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:121413222G>A	uc003eei.3	-	13	6259	c.6133C>T	c.(6133-6135)CTA>TTA	p.L2045L	GOLGB1_uc010hrc.2_Silent_p.L2050L|GOLGB1_uc003eej.3_Silent_p.L2011L|GOLGB1_uc011bjm.1_Silent_p.L1931L|GOLGB1_uc010hrd.1_Silent_p.L2009L	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	2045	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		ACAAATTCTAGAGCTTTAACA	0.373		NaN											0	0	0	0.01441	0	56	24				
PDIA5	10954	broad.mit.edu	37	3	122865069	122865069	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:122865069C>T	uc003egc.1	+	13	1161	c.1105C>T	c.(1105-1107)CTC>TTC	p.L369F	PDIA5_uc003egd.1_RNA	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	protein disulfide isomerase A5 precursor	369	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0427)		AGTGCCTGTGCTCAGGACAAA	0.483		NaN											0	0	0	0.013537	0	12	75				
SLCO2A1	6578	broad.mit.edu	37	3	133667440	133667440	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:133667440G>A	uc003eqa.3	-	8	1319	c.1045C>T	c.(1045-1047)CTC>TTC	p.L349F	SLCO2A1_uc003eqb.3_Missense_Mutation_p.L273F|SLCO2A1_uc011blv.1_Missense_Mutation_p.L168F	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family,	349	Extracellular (Potential).				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			central_nervous_system(1)	1						AACTTGTTGAGGAAGGTGGAG	0.572		NaN											0	0	0	0.009096	0	4	169				
AADAC	13	broad.mit.edu	37	3	151545957	151545957	+	Silent	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:151545957A>G	uc003eze.2	+	5	1287	c.1197A>G	c.(1195-1197)CTA>CTG	p.L399L		NM_001086	NP_001077	P22760	AAAD_HUMAN	arylacetamide deacetylase	399	Lumenal (Potential).				positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			skin(2)	2		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AGGAAAATCTATAGTAAAACA	0.299		NaN											0	0	0	0.014323	0	24	12				
SCHIP1	29970	broad.mit.edu	37	3	159482390	159482390	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:159482390G>A	uc003fcs.1	+	2	288	c.222G>A	c.(220-222)CTG>CTA	p.L74L	SCHIP1_uc003fcq.1_Silent_p.L150L|SCHIP1_uc003fcr.1_Silent_p.L63L|SCHIP1_uc003fct.1_Silent_p.L74L|SCHIP1_uc010hvz.1_Silent_p.L47L	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	schwannomin interacting protein 1	74						cytoplasm	identical protein binding|protein binding			ovary(1)|central_nervous_system(1)	2			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			TGTCTGCCCTGGAGGACTATG	0.493		NaN											0	0	0	0.001984	0	6	4				
NLGN1	22871	broad.mit.edu	37	3	173996714	173996714	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:173996714A>T	uc003fio.1	+	6	1346	c.923A>T	c.(922-924)CAA>CTA	p.Q308L	NLGN1_uc010hww.1_Missense_Mutation_p.Q348L|NLGN1_uc003fip.1_Missense_Mutation_p.Q308L	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	325	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTTAGTTTTCAACCTGCAAAA	0.388		NaN											0	0	0	0.013537	0	11	23				
EIF4G1	1981	broad.mit.edu	37	3	184040229	184040229	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:184040229C>T	uc003fnp.2	+	11	1797	c.1599C>T	c.(1597-1599)GCC>GCT	p.A533A	EIF4G1_uc003fno.1_Silent_p.A474A|EIF4G1_uc010hxw.1_Silent_p.A369A|EIF4G1_uc003fnt.2_Silent_p.A244A|EIF4G1_uc003fnq.2_Silent_p.A446A|EIF4G1_uc003fnr.2_Silent_p.A369A|EIF4G1_uc010hxx.2_Silent_p.A540A|EIF4G1_uc003fns.2_Silent_p.A493A|EIF4G1_uc010hxy.2_Silent_p.A540A|EIF4G1_uc003fnv.3_Silent_p.A533A|EIF4G1_uc003fnu.3_Silent_p.A533A|EIF4G1_uc003fnw.2_Silent_p.A540A|EIF4G1_uc003fnx.2_Silent_p.A337A|EIF4G1_uc003fny.3_Silent_p.A337A	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	533					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCTGGATGCCTTCAAGGAGG	0.438		NaN											0	0	0	0.006214	0	8	21				
ZNF721	170960	broad.mit.edu	37	4	436514	436514	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:436514C>G	uc003gag.2	-	3	2433	c.1742G>C	c.(1741-1743)GGA>GCA	p.G581A	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.G613A|ZNF721_uc010ibe.2_Missense_Mutation_p.G569A	NM_133474	NP_597731	D9N162	D9N162_HUMAN	zinc finger protein 721	581						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						AGGTTTCTCTCCAGTATGAAT	0.398		NaN											0	0	0	0.00632	0	27	123				
ADD1	118	broad.mit.edu	37	4	2927796	2927796	+	Silent	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:2927796G>T	uc003gfr.2	+	14	2006	c.1818G>T	c.(1816-1818)GCG>GCT	p.A606A	ADD1_uc003gfn.2_Intron|ADD1_uc003gfo.2_Silent_p.A637A|ADD1_uc003gfp.2_Silent_p.A606A|ADD1_uc003gfq.2_Silent_p.A637A|ADD1_uc003gfs.2_Silent_p.A637A	NM_001119	NP_001110	P35611	ADDA_HUMAN	adducin 1 (alpha) isoform a	606				A -> E (in Ref. 2; AAB05645).	actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCAGCCTGCGGTCCCCCACC	0.622		NaN											1	0	6.40141e-05	0.010729	7.02399e-05	10	45				
TADA2B	93624	broad.mit.edu	37	4	7045505	7045505	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:7045505G>A	uc003gjw.3	+	1	350	c.199G>A	c.(199-201)GAG>AAG	p.E67K	CCDC96_uc003gjv.2_5'Flank|TADA2B_uc010idi.2_Intron	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2 (ADA2 homolog,	67	SANT.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding				0						GCCCGAGGCCGAGGGCGGCTG	0.736		NaN											0	0	0	0.014758	0	4	18				
TLR10	81793	broad.mit.edu	37	4	38776079	38776079	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:38776079A>T	uc003gti.2	-	2	1512	c.1133T>A	c.(1132-1134)ATT>AAT	p.I378N	TLR10_uc003gtj.2_Missense_Mutation_p.I378N|TLR10_uc003gtk.2_Missense_Mutation_p.I378N	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	378	Extracellular (Potential).|LRR 10.				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			lung(1)|breast(1)	2						GCCATTCAAAATGAGAGTTTT	0.328		NaN											0	0	0	0.016522	0	24	37				
TLR10	81793	broad.mit.edu	37	4	38776209	38776209	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:38776209T>G	uc003gti.2	-	2	1382	c.1003A>C	c.(1003-1005)AAT>CAT	p.N335H	TLR10_uc003gtj.2_Missense_Mutation_p.N335H|TLR10_uc003gtk.2_Missense_Mutation_p.N335H	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	335	LRR 8.|Extracellular (Potential).				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			lung(1)|breast(1)	2						ATTTGTGCATTTGATATTGTC	0.308		NaN											0	0	0	0.012319	0	22	20				
N4BP2	55728	broad.mit.edu	37	4	40146392	40146392	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:40146392G>C	uc003guy.3	+	16	5453	c.5115G>C	c.(5113-5115)TTG>TTC	p.L1705F	N4BP2_uc010ifq.2_Missense_Mutation_p.L1625F|N4BP2_uc010ifr.2_Missense_Mutation_p.L1608F	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	1705	Smr.					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						TAGAACATTTGATGAGAGTTT	0.393		NaN											0	0	0	0.008291	0	10	27				
GUF1	60558	broad.mit.edu	37	4	44693709	44693709	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:44693709G>A	uc003gww.3	+	13	1713	c.1506G>A	c.(1504-1506)ATG>ATA	p.M502I		NM_021927	NP_068746	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog	502					translation	mitochondrial inner membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)	1						AGAAGAATATGATATTTATTG	0.313		NaN											0	0	0	0.021523	0	26	43				
TEC	7006	broad.mit.edu	37	4	48140938	48140938	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:48140938G>A	uc003gxz.2	-	16	1728	c.1637C>T	c.(1636-1638)TCA>TTA	p.S546L		NM_003215	NP_003206	P42680	TEC_HUMAN	tec protein tyrosine kinase	546	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9						CCAGACATCTGATTTGCTGCT	0.443		NaN											0	0	0	0.006122	0	17	21				
SCFD2	152579	broad.mit.edu	37	4	54231440	54231440	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:54231440G>A	uc003gzu.2	-	1	803	c.669C>T	c.(667-669)CTC>CTT	p.L223L	SCFD2_uc010igm.2_Silent_p.L223L	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	223					protein transport|vesicle docking involved in exocytosis					ovary(2)|pancreas(1)	3			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACAGAGAACTGAGGCCTGACA	0.547		NaN											0	0	0	0.004482	0	9	31				
GSX2	170825	broad.mit.edu	37	4	54967810	54967810	+	Silent	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:54967810G>T	uc010igp.1	+	2	900	c.636G>T	c.(634-636)ACG>ACT	p.T212T	PDGFRA_uc003haa.2_Intron	NM_133267	NP_573574	Q9BZM3	GSX2_HUMAN	GS homeobox 2	212	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			TCACTAGCACGCAACTCCTGG	0.572		NaN											1	0	2.12542e-12	0.00632	2.41649e-12	29	34				
UGT2B4	7363	broad.mit.edu	37	4	70361469	70361469	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:70361469C>T	uc003hek.3	-	1	158	c.111G>A	c.(109-111)ATG>ATA	p.M37I	UGT2B4_uc011cap.1_Intron|UGT2B4_uc003hel.3_Missense_Mutation_p.M37I	NM_021139	NP_066962	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2B4 precursor	37					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(2)	2						TCTTTATATTCATCCAGTGGC	0.468		NaN											0	0	0	0.021022	0	36	71				
DCK	1633	broad.mit.edu	37	4	71863897	71863897	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:71863897G>A	uc003hfx.2	+	2	493	c.205G>A	c.(205-207)GAG>AAG	p.E69K	DCK_uc011cbb.1_5'UTR	NM_000788	NP_000779	P27707	DCK_HUMAN	deoxycytidine kinase	69					purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			ovary(1)	1			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	AGATGAATTTGAGGTATGAAA	0.318		NaN											0	0	0	0.014323	0	21	28				
BMP2K	55589	broad.mit.edu	37	4	79833000	79833000	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:79833000C>A	uc003hlk.2	+	16	3465	c.3299C>A	c.(3298-3300)CCA>CAA	p.P1100Q	PAQR3_uc003hlm.2_Intron|PAQR3_uc003hln.2_Intron|uc010ijm.1_5'Flank	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	BMP-2 inducible kinase isoform a	1100						nucleus	ATP binding|protein serine/threonine kinase activity			lung(1)	1						ACTGTCCTGCCAGGGCGGCCA	0.522		NaN											1	0	1.22384e-17	0.013726	1.42081e-17	35	50				
ADH1B	125	broad.mit.edu	37	4	100237199	100237199	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:100237199G>A	uc003hus.3	-	5	507	c.423C>T	c.(421-423)TTC>TTT	p.F141F	ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Silent_p.F101F|ADH1B_uc011ceh.1_Intron|ADH1B_uc011cei.1_Silent_p.F101F	NM_000668	NP_000659	P00325	ADH1B_HUMAN	class I alcohol dehydrogenase, beta subunit	141					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			ovary(1)|breast(1)	2				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TGGTGCCAAGGAAGTGGTGAA	0.577		NaN											0	0	0	0.01892	0	26	46				
C4orf29	80167	broad.mit.edu	37	4	128930328	128930328	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:128930328T>A	uc003ifr.2	+	6	742	c.424T>A	c.(424-426)TTG>ATG	p.L142M	C4orf29_uc003ifq.1_RNA|C4orf29_uc003ifs.2_Missense_Mutation_p.L15M|C4orf29_uc003ift.2_5'Flank|C4orf29_uc003ifu.2_5'Flank|C4orf29_uc010inz.2_5'Flank|C4orf29_uc003ifv.2_5'Flank	NM_001039717	NP_001034806	Q0P651	CD029_HUMAN	hypothetical protein LOC80167 precursor	142						extracellular region				ovary(1)	1						GGCTTCTTTATTGTTAGAAAA	0.333		NaN											0	0	0	0.004482	0	7	11				
USP38	84640	broad.mit.edu	37	4	144135055	144135055	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:144135055T>G	uc003ijb.2	+	9	2460	c.1926T>G	c.(1924-1926)GAT>GAG	p.D642E	USP38_uc003ija.3_Missense_Mutation_p.D642E|USP38_uc003ijc.2_RNA	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	642					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_hematologic(180;0.158)					GTATACAAGATGGTGGTCTAA	0.438		NaN											0	0	0	0.01441	0	56	124				
TMEM154	201799	broad.mit.edu	37	4	153573937	153573937	+	Silent	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:153573937C>A	uc003imw.1	-	2	313	c.207G>T	c.(205-207)CCG>CCT	p.P69P		NM_152680	NP_689893	Q6P9G4	TM154_HUMAN	transmembrane protein 154 precursor	69	Extracellular (Potential).					integral to membrane					0	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GATTTTCATCCGGAGCAAAGT	0.333		NaN											1	0	7.03913e-09	0.013537	7.90106e-09	10	34				
FAM198B	51313	broad.mit.edu	37	4	159092463	159092463	+	Missense_Mutation	SNP	C	C	T	rs148186776		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:159092463C>T	uc003ipp.3	-	2	517	c.65G>A	c.(64-66)CGG>CAG	p.R22Q	uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Missense_Mutation_p.R22Q|FAM198B_uc003ipr.3_Missense_Mutation_p.R22Q|FAM198B_uc003ips.2_Missense_Mutation_p.R22Q|uc003ipt.1_RNA	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 2	22	Cytoplasmic (Potential).					Golgi membrane|integral to membrane					0						CTTACGCACCCGCGGGACGCA	0.587		NaN											0	0	0	0.003163	0	12	39				
SH3RF1	57630	broad.mit.edu	37	4	170028077	170028077	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:170028077G>A	uc003isa.1	-	11	2754	c.2419C>T	c.(2419-2421)CCC>TCC	p.P807S		NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	807						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(2)|lung(1)	3		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GGAGCGATGGGAACTGCGGAG	0.587		NaN											0	0	0	0.007291	0	30	45				
SH3RF1	57630	broad.mit.edu	37	4	170028181	170028181	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:170028181G>T	uc003isa.1	-	11	2650	c.2315C>A	c.(2314-2316)TCC>TAC	p.S772Y		NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	772						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(2)|lung(1)	3		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CACAGGGCAGGAGCCTGCCCT	0.662		NaN											1	0	2.17888e-05	0.006214	2.41488e-05	7	21				
SDHA	6389	broad.mit.edu	37	5	235398	235398	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:235398G>C	uc003jao.3	+	9	1319	c.1204G>C	c.(1204-1206)GTC>CTC	p.V402L	SDHA_uc003jan.2_Missense_Mutation_p.V402L|SDHA_uc011clv.1_Missense_Mutation_p.V402L|SDHA_uc011clw.1_Missense_Mutation_p.V354L|SDHA_uc003jap.3_Missense_Mutation_p.V402L|SDHA_uc003jaq.3_Missense_Mutation_p.V177L|SDHA_uc003jar.3_Intron	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	402					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GCCGATCCCTGTCCTCCCCAC	0.617		NaN							Familial_Paragangliomas				0	0	0	0.012319	0	18	60				
FASTKD3	79072	broad.mit.edu	37	5	7861273	7861273	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:7861273G>C	uc003jeb.2	-	6	2010	c.1873C>G	c.(1873-1875)CAA>GAA	p.Q625E	FASTKD3_uc011cmp.1_Missense_Mutation_p.Q327E|FASTKD3_uc003jec.2_RNA	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	625	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|breast(1)|pancreas(1)	4						TGAACAACTTGATAACCGAGT	0.323		NaN											0	0	0	0.010504	0	21	48				
SEMA5A	9037	broad.mit.edu	37	5	9063097	9063097	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:9063097C>T	uc003jek.2	-	18	3132	c.2420G>A	c.(2419-2421)CGG>CAG	p.R807Q		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	807	TSP type-1 5.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						AACACGCTTCCGGTTCCGAAT	0.592		NaN											0	0	0	0.004482	0	8	39				
PRDM9	56979	broad.mit.edu	37	5	23526685	23526685	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:23526685A>C	uc003jgo.2	+	11	1670	c.1488A>C	c.(1486-1488)GAA>GAC	p.E496D		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	496					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						TAATGGAAGAAGAGTCCAGAA	0.448		NaN								HNSCC(3;0.000094)			0	0	0	0.001168	0	6	35				
PTGER4	5734	broad.mit.edu	37	5	40681893	40681893	+	Silent	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:40681893C>G	uc003jlz.2	+	2	1390	c.798C>G	c.(796-798)GCC>GCG	p.A266A		NM_000958	NP_000949	P35408	PE2R4_HUMAN	prostaglandin E receptor 4, subtype EP4	266	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			lung(2)	2						TCGCGGGCGCCGAGATCCAGA	0.706		NaN											0	0	0	0.001168	0	6	125				
ISL1	3670	broad.mit.edu	37	5	50687238	50687238	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:50687238T>C	uc003jor.2	+	5	1444	c.896T>C	c.(895-897)TTG>TCG	p.L299S		NM_002202	NP_002193	P61371	ISL1_HUMAN	islet-1	299	Gln-rich.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3		Lung NSC(810;0.000845)|Breast(144;0.0411)				GACTTCGCCTTGCAGAGTGAC	0.517		NaN											0	0	0	0.009718	0	36	80				
VCAN	1462	broad.mit.edu	37	5	82817219	82817219	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:82817219C>G	uc003kii.3	+	7	3450	c.3094C>G	c.(3094-3096)CAG>GAG	p.Q1032E	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.Q1032E|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1032	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGGAACAACTCAGGAAGAATT	0.453		NaN											0	0	0	0.004672	0	2	16				
WDR36	134430	broad.mit.edu	37	5	110445967	110445967	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:110445967C>T	uc003kpd.2	+	13	1691	c.1574C>T	c.(1573-1575)TCT>TTT	p.S525F	WDR36_uc010jbu.2_RNA	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	WD repeat domain 36	525	WD 6.				response to stimulus|rRNA processing|visual perception	small-subunit processome				ovary(1)|skin(1)	2		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		AACATGCAGTCTGGCATACAT	0.358		NaN											0	0	0	0.008361	0	29	16				
TMED7-TICAM2	100302736	broad.mit.edu	37	5	114916656	114916656	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:114916656G>C	uc003krd.2	-	4	1304	c.298C>G	c.(298-300)CTA>GTA	p.L100V	TMED7-TICAM2_uc003kre.2_Missense_Mutation_p.L269V|TICAM2_uc003krc.2_Missense_Mutation_p.L100V	NM_021649	NP_067681	Q86XR7	TCAM2_HUMAN	toll-like receptor adaptor molecule 2	100	TIR.				I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Golgi apparatus|intrinsic to membrane|plasma membrane	protein binding|transmembrane receptor activity				0						TCATCTTGTAGCAGATTCTGG	0.418		NaN											0	0	0	0.014323	0	20	128				
FBN2	2201	broad.mit.edu	37	5	127693083	127693083	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:127693083T>C	uc003kuu.2	-	20	2998	c.2559A>G	c.(2557-2559)ATA>ATG	p.I853M	FBN2_uc003kuv.2_Missense_Mutation_p.I820M	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	853	EGF-like 13; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACATTCATTTATATCTACAA	0.423		NaN											0	0	0	0.007291	0	29	7				
SLC27A6	28965	broad.mit.edu	37	5	128324319	128324319	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:128324319C>G	uc003kuy.2	+	4	1108	c.712C>G	c.(712-714)CAG>GAG	p.Q238E	SLC27A6_uc003kuz.2_Missense_Mutation_p.Q238E	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid	238					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding				0		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGTGATTAGTCAGCTGCAGGT	0.328		NaN											0	0	0	0.01441	0	53	29				
AFF4	27125	broad.mit.edu	37	5	132223670	132223670	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:132223670T>C	uc003kyd.2	-	16	3209	c.2801A>G	c.(2800-2802)GAT>GGT	p.D934G	AFF4_uc011cxk.1_Missense_Mutation_p.D612G	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	934					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCAAACCTATCAGACTGAAG	0.348		NaN											0	0	0	0.010504	0	20	11				
ZNF300	91975	broad.mit.edu	37	5	150275116	150275116	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:150275116G>A	uc003lsy.1	-	6	1952	c.1685C>T	c.(1684-1686)TCA>TTA	p.S562L	IRGM_uc011dcl.1_Intron	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	zinc finger protein 300	562	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACAAGGTCTGACTTCTGAGA	0.458		NaN											0	0	0	0.015359	0	34	15				
F12	2161	broad.mit.edu	37	5	176830946	176830946	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:176830946G>A	uc003mgo.3	-	10	1213	c.1164C>T	c.(1162-1164)GCC>GCT	p.A388A	F12_uc011dfy.1_5'UTR|F12_uc003mgn.3_5'UTR|F12_uc010jkl.2_RNA	NM_000505	NP_000496	P00748	FA12_HUMAN	coagulation factor XII precursor	388	Peptidase S1.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity				0	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTACAGCGCGGCGATGTAGG	0.716		NaN							Hereditary_Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001984	0	6	6				
F12	2161	broad.mit.edu	37	5	176831565	176831565	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:176831565G>A	uc003mgo.3	-	8	784	c.735C>T	c.(733-735)GCC>GCT	p.A245A	F12_uc011dfy.1_5'Flank|F12_uc003mgn.3_5'Flank|F12_uc010jkl.2_RNA	NM_000505	NP_000496	P00748	FA12_HUMAN	coagulation factor XII precursor	245	Kringle.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity				0	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCGGTAGGTGGCCTCCGAGG	0.726		NaN							Hereditary_Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.006214	0	10	4				
MAPK9	5601	broad.mit.edu	37	5	179696343	179696343	+	Missense_Mutation	SNP	G	G	T	rs148710250	by1000genomes	TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:179696343G>T	uc003mls.3	-	3	460	c.189C>A	c.(187-189)AAC>AAA	p.N63K	MAPK9_uc003mlt.3_Missense_Mutation_p.N63K|MAPK9_uc010jlc.2_Missense_Mutation_p.N63K|MAPK9_uc003mlv.3_Missense_Mutation_p.N63K|MAPK9_uc011dgx.1_Missense_Mutation_p.N63K	NM_002752	NP_002743	P45984	MK09_HUMAN	mitogen-activated protein kinase 9 isoform JNK2	63	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATGAGTTTGGTTCTGAAAAG	0.348		NaN											1	0	3.90053e-15	0.012213	4.49275e-15	34	5				
PRPF4B	8899	broad.mit.edu	37	6	4059021	4059021	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:4059021C>T	uc003mvv.2	+	14	2884	c.2793C>T	c.(2791-2793)TAC>TAT	p.Y931Y	PRPF4B_uc003mvw.2_RNA|C6orf146_uc010jnq.1_Intron|PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	931	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				ACTTCATGTACATAGAAGTTG	0.313		NaN											0	0	0	0.00308	0	8	37				
RREB1	6239	broad.mit.edu	37	6	7211055	7211055	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:7211055G>A	uc003mxc.2	+	7	834	c.444G>A	c.(442-444)GAG>GAA	p.E148E	RREB1_uc010jnw.2_Silent_p.E148E|RREB1_uc003mxb.2_Silent_p.E148E|RREB1_uc010jnx.2_Silent_p.E148E|RREB1_uc003mxd.2_Silent_p.E148E	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	148					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGATCCATGAGAAGGACCCTA	0.423		NaN											0	0	0	0.00632	0	30	70				
PRL	5617	broad.mit.edu	37	6	22297250	22297250	+	Translation_Start_Site	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:22297250G>C	uc003ndp.2	-	1	481	c.-38C>G	c.(-40--36)ATCTT>ATGTT		PRL_uc003ndo.2_Translation_Start_Site|PRL_uc003ndq.2_Translation_Start_Site|PRL_uc003ndr.1_RNA	NM_000948	NP_000939	P01236	PRL_HUMAN	prolactin precursor						cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding				0	Ovarian(93;0.163)					CACCAGAGAAGATCTGGAAGT	0.408		NaN											0	0	0	0.004007	0	16	29				
GPLD1	2822	broad.mit.edu	37	6	24433445	24433445	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:24433445G>A	uc003ned.1	-	24	2517	c.2406C>T	c.(2404-2406)AGC>AGT	p.S802S		NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	802	FG-GAP 7.					extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3						TGATGAGGGAGCTCCCAAACC	0.453		NaN											0	0	0	0.00499	0	17	163				
GPLD1	2822	broad.mit.edu	37	6	24454389	24454389	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:24454389C>T	uc003ned.1	-	14	1300	c.1189G>A	c.(1189-1191)GAC>AAC	p.D397N	GPLD1_uc010jpr.1_Missense_Mutation_p.D234N|GPLD1_uc010jps.1_Missense_Mutation_p.D397N	NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	397	FG-GAP 1.					extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3						ACCACGAGGTCACCGTGCCCA	0.612		NaN											0	0	0	0.008871	0	20	30				
HIST1H2BI	8346	broad.mit.edu	37	6	26273432	26273432	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:26273432G>A	uc003nhk.2	+	1	229	c.229G>A	c.(229-231)GAG>AAG	p.E77K	HIST1H3G_uc003nhi.2_5'Flank	NM_003525	NP_003516	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	77					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding				0						CATTGCAGGCGAGGCTTCCCG	0.587		NaN											0	0	0	0.010818	0	32	111				
ZFP57	346171	broad.mit.edu	37	6	29641397	29641397	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:29641397C>A	uc011dlw.1	-	4	642	c.491G>T	c.(490-492)CGG>CTG	p.R164L	ZFP57_uc003nnl.3_Missense_Mutation_p.R144L	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	zinc finger protein 57 homolog	80	KRAB.				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			ovary(3)|skin(2)	5						TTGAAGCACCCGGGTCCTGTC	0.572		NaN											1	0	5.50884e-06	0.013537	6.12093e-06	13	187				
BAT5	7920	broad.mit.edu	37	6	31668761	31668761	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:31668761C>G	uc003nvy.1	-	4	331	c.301G>C	c.(301-303)GGG>CGG	p.G101R	BAT5_uc003nvx.1_5'UTR|BAT5_uc011dny.1_Missense_Mutation_p.G68R|BAT5_uc003nvz.1_5'UTR|BAT5_uc011dnz.1_5'UTR|BAT5_uc010jtc.1_RNA|BAT5_uc011doa.1_Silent_p.L2L	NM_021160	NP_066983	O95870	ABHGA_HUMAN	HLA-B associated transcript 5	101	Helical; (Potential).					integral to membrane	hydrolase activity|protein binding				0						AGCAATGTCCCAGCATAGTGA	0.507		NaN											0	0	0	0.013537	0	11	60				
FKBP5	2289	broad.mit.edu	37	6	35588041	35588041	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:35588041G>C	uc011dte.1	-	4	464	c.261C>G	c.(259-261)ATC>ATG	p.I87M	FKBP5_uc003okx.2_Missense_Mutation_p.I87M|FKBP5_uc011dtf.1_Intron|FKBP5_uc003oky.2_Missense_Mutation_p.I87M|FKBP5_uc003okz.2_Missense_Mutation_p.I87M	NM_001145776	NP_001139248	Q13451	FKBP5_HUMAN	FK506 binding protein 5 isoform 1	87	PPIase FKBP-type 1.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1						CCCATGCCTTGATGACTTGGC	0.403		NaN											0	0	0	0.009718	0	40	41				
CCND3	896	broad.mit.edu	37	6	41908297	41908297	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:41908297C>G	uc003orn.2	-	2	390	c.225G>C	c.(223-225)GAG>GAC	p.E75D	CCND3_uc003orp.2_5'UTR|CCND3_uc011duk.1_Intron|CCND3_uc011dum.1_5'UTR|CCND3_uc003orm.2_Missense_Mutation_p.E25D|CCND3_uc003oro.2_Intron|CCND3_uc011dul.1_Intron	NM_001760	NP_001751	P30281	CCND3_HUMAN	cyclin D3 isoform 2	75	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding				0	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGAAGACTTCCTCCTCACAGC	0.647		NaN	T	IGH@	MM								0	0	0	0.005524	0	37	38		Valid		
KLHDC3	116138	broad.mit.edu	37	6	42985893	42985893	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:42985893T>G	uc003otl.2	+	5	627	c.458T>G	c.(457-459)TTT>TGT	p.F153C	KLHDC3_uc003otm.2_RNA|KLHDC3_uc010jyf.2_Intron|KLHDC3_uc003otn.2_Missense_Mutation_p.F37C|KLHDC3_uc003oto.2_Missense_Mutation_p.F94C	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	153	Kelch 3.				reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			upper_aerodigestive_tract(1)	1			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCGGACTGTTTTTCCAATGAC	0.473		NaN											0	0	0	0.01441	0	62	38				
SLC29A1	2030	broad.mit.edu	37	6	44201158	44201158	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:44201158G>C	uc003owu.1	+	13	1593	c.1264G>C	c.(1264-1266)GTG>CTG	p.V422L	SLC29A1_uc003owv.1_Missense_Mutation_p.V422L|SLC29A1_uc003oww.1_Missense_Mutation_p.V501L|SLC29A1_uc003owx.1_Missense_Mutation_p.V422L|SLC29A1_uc003owy.1_Missense_Mutation_p.V422L|SLC29A1_uc003owz.1_Missense_Mutation_p.V422L	NM_004955	NP_004946	Q99808	S29A1_HUMAN	equilibrative nucleoside transporter 1	422	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			large_intestine(2)|skin(1)	3	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	GCTTAGGAAAGTGAAGCCAGC	0.597		NaN											0	0	0	0.010771	0	38	125				
DST	667	broad.mit.edu	37	6	56458781	56458781	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:56458781A>T	uc003pdf.2	-	42	6077	c.6049T>A	c.(6049-6051)TTA>ATA	p.L2017I	DST_uc003pcz.3_Missense_Mutation_p.L1839I|DST_uc011dxj.1_Missense_Mutation_p.L1868I|DST_uc011dxk.1_Missense_Mutation_p.L1879I|DST_uc003pcy.3_Missense_Mutation_p.L1513I|DST_uc010kaa.1_RNA	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	3925	Spectrin 2.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AACTTTTCTAATTCTTCCTGC	0.423		NaN											0	0	0	0.00874	0	42	45				
TFB1M	51106	broad.mit.edu	37	6	155619653	155619653	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:155619653C>G	uc003qqj.3	-	3	416	c.352G>C	c.(352-354)GAA>CAA	p.E118Q	TFB1M_uc003qqk.2_Intron	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			skin(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		AAAGCCTTTTCTACCTTAAAT	0.338		NaN											0	0	0	0.01892	0	20	19				
TBP	6908	broad.mit.edu	37	6	170871088	170871088	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:170871088G>A	uc003qxt.2	+	3	496	c.264G>A	c.(262-264)CAG>CAA	p.Q88Q	TBP_uc003qxu.2_Silent_p.Q88Q|TBP_uc011ehf.1_Silent_p.Q68Q|TBP_uc011ehg.1_Silent_p.Q88Q	NM_003194	NP_003185	P20226	TBP_HUMAN	TATA box binding protein	88	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.199		NaN											0	0	0	0.014758	0	4	20				
MEOX2	4223	broad.mit.edu	37	7	15725691	15725691	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:15725691C>T	uc003stc.2	-	1	618	c.337G>A	c.(337-339)GAC>AAC	p.D113N	MEOX2_uc011jxw.1_Missense_Mutation_p.D113N	NM_005924	NP_005915	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	113					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CCTCCAGAGTCGGGCTGGAGG	0.627		NaN											0	0	0	0.001984	0	7	6				
AOAH	313	broad.mit.edu	37	7	36671706	36671706	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:36671706A>C	uc003tfh.3	-	6	858	c.457T>G	c.(457-459)TCT>GCT	p.S153A	AOAH_uc010kxf.2_Missense_Mutation_p.S153A|AOAH_uc011kba.1_Missense_Mutation_p.S121A	NM_001637	NP_001628	P28039	AOAH_HUMAN	acyloxyacyl hydrolase precursor	153					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			skin(1)	1						CCACTTCTAGAATATTTCTGG	0.393		NaN											0	0	0	0.001984	0	6	12				
GLI3	2737	broad.mit.edu	37	7	42005045	42005045	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:42005045G>A	uc011kbh.1	-	15	3717	c.3626C>T	c.(3625-3627)CCT>CTT	p.P1209L	GLI3_uc011kbg.1_Missense_Mutation_p.P1150L	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1209					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GCCCCCAGCAGGCCCGCTCCT	0.652		NaN							Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				0	0	0	0.009096	0	4	104				
ABCA13	154664	broad.mit.edu	37	7	48308595	48308595	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:48308595C>T	uc003toq.2	+	16	2049	c.2024C>T	c.(2023-2025)CCT>CTT	p.P675L	ABCA13_uc010kyr.2_Missense_Mutation_p.P178L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	675					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						GAGGAATCTCCTTGTTTTGAA	0.289		NaN											0	0	0	0.014758	0	5	27				
AUTS2	26053	broad.mit.edu	37	7	69364285	69364285	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:69364285T>G	uc003tvw.3	+	2	1066	c.323T>G	c.(322-324)CTT>CGT	p.L108R	AUTS2_uc003tvv.3_Missense_Mutation_p.L108R|AUTS2_uc003tvx.3_Missense_Mutation_p.L108R	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	108										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GATGTAGCACTTAAGCCTCAG	0.443		NaN											0	0	0	0.010729	0	11	41				
DNAJC30	84277	broad.mit.edu	37	7	73097379	73097379	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:73097379G>A	uc003tys.1	-	1	403	c.375C>T	c.(373-375)GTC>GTT	p.V125V	WBSCR22_uc010lbi.1_5'Flank|WBSCR22_uc003tyt.2_5'Flank|WBSCR22_uc003tyu.2_5'Flank|WBSCR22_uc003tyv.2_5'Flank|WBSCR22_uc003tyw.1_5'Flank	NM_032317	NP_115693	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog subfamily C member 30	125					protein folding		heat shock protein binding|unfolded protein binding				0						TGGAGGGCCGGACGCCAGGTC	0.741		NaN											0	0	0	0.004482	0	9	14				
HIP1	3092	broad.mit.edu	37	7	75178216	75178216	+	Silent	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:75178216A>T	uc003uds.1	-	23	2420	c.2379T>A	c.(2377-2379)GCT>GCA	p.A793A	HIP1_uc011kfz.1_Silent_p.A670A	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	793	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						CAGTTTCAATAGCAGCTGAAG	0.552		NaN	T	PDGFRB	CMML								0	0	0	0.01441	0	59	139				
HIP1	3092	broad.mit.edu	37	7	75178225	75178225	+	Silent	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:75178225A>C	uc003uds.1	-	23	2411	c.2370T>G	c.(2368-2370)ACT>ACG	p.T790T	HIP1_uc011kfz.1_Silent_p.T667T	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	790	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						TAGCAGCTGAAGTGGCCGCCA	0.567		NaN	T	PDGFRB	CMML								0	0	0	0.01441	0	62	134				
SEMA3D	223117	broad.mit.edu	37	7	84751131	84751131	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:84751131C>T	uc003uic.2	-	1	117	c.77G>A	c.(76-78)AGC>AAC	p.S26N	SEMA3D_uc010led.2_Missense_Mutation_p.S26N|SEMA3D_uc010lee.1_Missense_Mutation_p.S26N	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	26					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						CATGGTCATGCTTAGCATCAT	0.333		NaN											0	0	0	0.006122	0	12	24				
KIAA1324L	222223	broad.mit.edu	37	7	86554951	86554951	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:86554951C>A	uc011kha.1	-	10	1477	c.1292G>T	c.(1291-1293)GGA>GTA	p.G431V	KIAA1324L_uc003uif.1_Missense_Mutation_p.G191V|KIAA1324L_uc011kgz.1_Missense_Mutation_p.G317V|KIAA1324L_uc003uie.2_Missense_Mutation_p.G264V	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	hypothetical protein LOC222223 isoform 1	431	Extracellular (Potential).					integral to membrane				ovary(6)|skin(1)	7	Esophageal squamous(14;0.0058)					AGGCTCCGTTCCTGCTGGACA	0.418		NaN											1	0	2.32078e-09	0.003163	2.61832e-09	16	48				
PTCD1	26024	broad.mit.edu	37	7	99032712	99032712	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:99032712G>A	uc003uqh.2	-	2	285	c.154C>T	c.(154-156)CAG>TAG	p.Q52*	PTCD1_uc011kiw.1_Nonsense_Mutation_p.Q101*	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	52										ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AGGGGCAGCTGAGAGGAGGAG	0.657		NaN											0	0	0	0.007413	0	20	18				
RELN	5649	broad.mit.edu	37	7	103214579	103214579	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:103214579T>C	uc003vca.2	-	30	4631	c.4471A>G	c.(4471-4473)AGG>GGG	p.R1491G	RELN_uc010liz.2_Missense_Mutation_p.R1491G	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1491					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGGGCTTCCCTTTTCCCAGGG	0.468		NaN											0	0	0	0.009096	0	3	119				
CBLL1	79872	broad.mit.edu	37	7	107398668	107398668	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:107398668G>A	uc003veq.2	+	6	851	c.521G>A	c.(520-522)AGA>AAA	p.R174K	CBLL1_uc011kme.1_Missense_Mutation_p.R53K|CBLL1_uc011kmf.1_Missense_Mutation_p.R173K	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Cas-Br-M (murine) ecotropic retroviral	174	C2H2-type.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|skin(2)|lung(1)	5						GGGTGCAAGAGAACATATTTG	0.433		NaN											0	0	0	0.004007	0	15	52				
GRM8	2918	broad.mit.edu	37	7	126086316	126086316	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:126086316C>T	uc003vlr.2	-	9	2852	c.2541G>A	c.(2539-2541)CAG>CAA	p.Q847Q	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.Q847Q|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	847	Cytoplasmic (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TTTGAACATTCTGTTCTGGAT	0.423		NaN								HNSCC(24;0.065)			0	0	0	0.010504	0	20	37				
FLNC	2318	broad.mit.edu	37	7	128486934	128486934	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:128486934C>G	uc003vnz.3	+	24	4472	c.4263C>G	c.(4261-4263)ATC>ATG	p.I1421M	FLNC_uc003voa.3_Missense_Mutation_p.I1421M	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1421	Filamin 12.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						ACGTCAACATCACCTTCGGGG	0.602		NaN											0	0	0	0.010504	0	19	34				
CALD1	800	broad.mit.edu	37	7	134643018	134643018	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:134643018G>A	uc003vrz.2	+	11	2497	c.2038G>A	c.(2038-2040)GAG>AAG	p.E680K	CALD1_uc003vry.2_Missense_Mutation_p.E425K|CALD1_uc003vsa.2_Missense_Mutation_p.E451K|CALD1_uc003vsb.2_Missense_Mutation_p.E425K|CALD1_uc010lmm.2_Missense_Mutation_p.E450K|CALD1_uc011kpt.1_Missense_Mutation_p.E199K|CALD1_uc003vsc.2_Missense_Mutation_p.E445K|CALD1_uc003vsd.2_Missense_Mutation_p.E419K|CALD1_uc011kpu.1_Missense_Mutation_p.E430K|CALD1_uc011kpv.1_Missense_Mutation_p.E289K|CALD1_uc003vse.2_Missense_Mutation_p.E543K|CALD1_uc010lmn.2_5'Flank	NM_033138	NP_149129	Q05682	CALD1_HUMAN	caldesmon 1 isoform 1	680	Strong actin-binding (By similarity).				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0						CAGCAGACTGGAGCAGTATAC	0.388		NaN											0	0	0	0.01441	0	59	49				
UBN2	254048	broad.mit.edu	37	7	138936757	138936757	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:138936757G>C	uc011kqr.1	+	3	617	c.617G>C	c.(616-618)GGC>GCC	p.G206A		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	206										ovary(1)|skin(1)	2						ATTGATATAGGCTTTGGCTAT	0.383		NaN											0	0	0	0.016522	0	21	56				
DNAJB6	10049	broad.mit.edu	37	7	157160089	157160089	+	Silent	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:157160089A>G	uc003wnk.2	+	5	412	c.258A>G	c.(256-258)CCA>CCG	p.P86P	DNAJB6_uc003wnj.2_Silent_p.P86P|DNAJB6_uc003wnl.2_Silent_p.P73P|DNAJB6_uc011kvy.1_Silent_p.P37P|DNAJB6_uc011kvz.1_Silent_p.P86P|DNAJB6_uc010lqt.2_Silent_p.P86P	NM_058246	NP_490647	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	86	Gly/Phe-rich.|Interaction with HSP70.				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			ovary(2)	2	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TTGACAGTCCATTTGAATTTG	0.363		NaN											0	0	0	0.009718	0	39	55				
MYST3	7994	broad.mit.edu	37	8	41791525	41791525	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr8:41791525C>T	uc010lxb.2	-	18	4757	c.4213G>A	c.(4213-4215)GAG>AAG	p.E1405K	MYST3_uc010lxc.2_Missense_Mutation_p.E1405K|MYST3_uc003xon.3_Missense_Mutation_p.E1405K	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1405					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			TCGATTAACTCTTCCTTAGTG	0.498		NaN											0	0	0	0.016522	0	25	141				
TRIM55	84675	broad.mit.edu	37	8	67086715	67086715	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr8:67086715G>C	uc003xvv.2	+	10	1760	c.1534G>C	c.(1534-1536)GAG>CAG	p.E512Q	TRIM55_uc003xvu.2_Nonstop_Mutation_p.*541S|TRIM55_uc003xvw.2_Missense_Mutation_p.E416Q|TRIM55_uc003xvx.2_Missense_Mutation_p.E205Q	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	tripartite motif-containing 55 isoform 1	512						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GATTGGATTTGAGGCTCCTCC	0.468		NaN											0	0	0	0.003163	0	16	65				
TRPA1	8989	broad.mit.edu	37	8	72959440	72959440	+	Silent	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr8:72959440T>C	uc003xza.2	-	16	2083	c.1908A>G	c.(1906-1908)GTA>GTG	p.V636V	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	636	Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	AATCTAAAAGTACCTTTGAAA	0.308		NaN											0	0	0	0.016723	0	11	48				
VPS13B	157680	broad.mit.edu	37	8	100396448	100396448	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr8:100396448T>C	uc003yiv.2	+	20	2948	c.2837T>C	c.(2836-2838)CTT>CCT	p.L946P	VPS13B_uc003yiw.2_Missense_Mutation_p.L946P|VPS13B_uc003yiu.1_Missense_Mutation_p.L946P|VPS13B_uc003yix.1_Missense_Mutation_p.L417P	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	946					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCTGTACTTCTTTGCAGTATA	0.279		NaN											0	0	0	0.006214	0	9	257				
VPS13B	157680	broad.mit.edu	37	8	100523432	100523432	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr8:100523432C>T	uc003yiv.2	+	29	4511	c.4400C>T	c.(4399-4401)TCA>TTA	p.S1467L	VPS13B_uc003yiw.2_Missense_Mutation_p.S1442L|VPS13B_uc003yix.1_Missense_Mutation_p.S937L	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1467					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAGTTAACATCAAGAAATGAG	0.378		NaN											0	0	0	0.01441	0	142	22				
DPYS	1807	broad.mit.edu	37	8	105405182	105405182	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr8:105405182A>C	uc003yly.3	-	8	1402	c.1273T>G	c.(1273-1275)TTC>GTC	p.F425V	DPYS_uc010mcf.1_5'UTR	NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	425					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAAATGTTGAAGTTAACAGCC	0.423		NaN											0	0	0	0.006214	0	9	56				
ZFPM2	23414	broad.mit.edu	37	8	106814151	106814151	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr8:106814151C>A	uc003ymd.2	+	8	1864	c.1841C>A	c.(1840-1842)GCT>GAT	p.A614D	ZFPM2_uc011lhs.1_Missense_Mutation_p.A345D	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	614					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GCTCATTCTGCTGATCCTGAG	0.463		NaN											1	0	3.86212e-05	0.008291	4.24833e-05	11	62				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:20414343A>G	uc003zoe.2	-	5	760	c.501T>C	c.(499-501)AGT>AGC	p.S167S	MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.V129A	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.139		NaN	T	MLL	ALL								0	0	0	0.014758	0	4	41				
APTX	54840	broad.mit.edu	37	9	32974519	32974519	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:32974519G>A	uc003zrm.2	-	6	1008	c.811C>T	c.(811-813)CCT>TCT	p.P271S	APTX_uc010mjm.2_RNA|APTX_uc003zrj.2_Missense_Mutation_p.P183S|APTX_uc011lns.1_Missense_Mutation_p.P92S|APTX_uc003zrl.2_Missense_Mutation_p.P97S|APTX_uc003zrn.2_Missense_Mutation_p.P183S|APTX_uc003zro.2_Missense_Mutation_p.P271S|APTX_uc003zrp.2_Missense_Mutation_p.P183S|APTX_uc003zrq.2_Missense_Mutation_p.P183S|APTX_uc003zrr.2_Missense_Mutation_p.P217S|APTX_uc003zrs.2_Missense_Mutation_p.P271S|APTX_uc003zrt.2_Missense_Mutation_p.P183S|APTX_uc003zru.2_Missense_Mutation_p.P217S|APTX_uc003zrv.2_Missense_Mutation_p.P285S|APTX_uc003zrw.2_Missense_Mutation_p.P199S|APTX_uc003zrx.2_Missense_Mutation_p.P271S|APTX_uc003zry.2_Missense_Mutation_p.P271S|APTX_uc003zrz.2_Missense_Mutation_p.P92S	NM_175072	NP_778242	Q7Z2E3	APTX_HUMAN	aprataxin isoform c	285	HIT.				cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		TTAAGGCAAGGAGAATCAAAA	0.318		NaN						Direct_reversal_of_damage|Editing_and_processing_nucleases					0	0	0	0.005443	0	25	34				
NFX1	4799	broad.mit.edu	37	9	33366702	33366702	+	Missense_Mutation	SNP	C	C	A	rs35178105		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:33366702C>A	uc003zsq.2	+	22	3176	c.3115C>A	c.(3115-3117)CAA>AAA	p.Q1039K	SUGT1P1_uc010mjq.1_Intron|NFX1_uc003zsr.2_Missense_Mutation_p.Q1040K	NM_002504	NP_002495	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	1039	R3H.				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TGACTTGGCCCAAGTTTATGG	0.517		NaN											1	0	2.6416e-12	0.00623	2.99563e-12	40	63				
FRMD3	257019	broad.mit.edu	37	9	86153040	86153040	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:86153040A>G	uc004ams.1	-	1	309	c.107T>C	c.(106-108)ATC>ACC	p.I36T	FRMD3_uc004amr.1_Missense_Mutation_p.I22T	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	36	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)|central_nervous_system(1)	2						CAGCAGCCGGATGGTGCATCT	0.652		NaN											0	0	0	0.004482	0	9	16				
NTRK2	4915	broad.mit.edu	37	9	87338604	87338604	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:87338604A>T	uc004aoa.1	+	9	1638	c.700A>T	c.(700-702)AAC>TAC	p.N234Y	NTRK2_uc004anv.1_Missense_Mutation_p.N234Y|NTRK2_uc004any.1_Missense_Mutation_p.N234Y|NTRK2_uc004anz.1_Missense_Mutation_p.N234Y|NTRK2_uc011lsz.1_Missense_Mutation_p.N234Y|NTRK2_uc011lta.1_Missense_Mutation_p.N234Y|NTRK2_uc004aob.1_Missense_Mutation_p.N234Y|NTRK2_uc011ltb.1_Missense_Mutation_p.N78Y	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	234	Extracellular (Potential).|Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						GGATGTTGGTAACCTGGTTTC	0.433		NaN								TSP Lung(25;0.17)			0	0	0	0.007413	0	17	88				
CDK5RAP2	55755	broad.mit.edu	37	9	123151529	123151529	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:123151529G>A	uc004bkf.2	-	38	5848	c.5667C>T	c.(5665-5667)AGC>AGT	p.S1889S	CDK5RAP2_uc010mvi.2_Silent_p.S898S|CDK5RAP2_uc004bke.2_Silent_p.S1174S|CDK5RAP2_uc004bkg.2_Silent_p.S1810S|CDK5RAP2_uc011lxw.1_Silent_p.S1154S|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Silent_p.S1154S|CDK5RAP2_uc011lya.1_Silent_p.S1154S	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1889	Interaction with PCNT and AKAP9.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						AGCCTGGTCTGCTGGGACTGC	0.473		NaN											0	0	0	0.004482	0	9	9				
CDK5RAP2	55755	broad.mit.edu	37	9	123169489	123169489	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:123169489G>A	uc004bkf.2	-	32	4945	c.4764C>T	c.(4762-4764)TTC>TTT	p.F1588F	CDK5RAP2_uc010mvi.2_Silent_p.F597F|CDK5RAP2_uc004bke.2_Silent_p.F873F|CDK5RAP2_uc004bkg.2_Intron|CDK5RAP2_uc011lxw.1_Silent_p.F853F|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Silent_p.F853F|CDK5RAP2_uc011lya.1_Silent_p.F853F|CDK5RAP2_uc004bkh.1_Silent_p.F1358F|CDK5RAP2_uc004bki.2_3'UTR	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1588					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						GCAGGTCCCTGAAAGGATCCT	0.567		NaN											0	0	0	0.010504	0	19	40				
CDK5RAP2	55755	broad.mit.edu	37	9	123170639	123170639	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:123170639T>A	uc004bkf.2	-	31	4893	c.4712A>T	c.(4711-4713)CAC>CTC	p.H1571L	CDK5RAP2_uc010mvi.2_Missense_Mutation_p.H580L|CDK5RAP2_uc004bke.2_Missense_Mutation_p.H856L|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.H1571L|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.H836L|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.H836L|CDK5RAP2_uc011lya.1_Missense_Mutation_p.H836L|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.H1341L|CDK5RAP2_uc004bki.2_Missense_Mutation_p.H1338L	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1571					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						CAGTCTCCTGTGCTCTTCATC	0.557		NaN											0	0	0	0.021022	0	36	35				
RBM18	92400	broad.mit.edu	37	9	125009805	125009805	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:125009805G>A	uc004bma.2	-	4	485	c.319C>T	c.(319-321)CAA>TAA	p.Q107*	RBM18_uc004blz.2_RNA|RBM18_uc010mvy.2_RNA|RBM18_uc011lyp.1_Intron	NM_033117	NP_149108	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	107							nucleotide binding|RNA binding				0						ACCTTTACTTGAGCATGTGCC	0.498		NaN											0	0	0	0.013537	0	13	30				
GARNL3	84253	broad.mit.edu	37	9	130147318	130147318	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:130147318C>T	uc011mae.1	+	24	2683	c.2282C>T	c.(2281-2283)CCG>CTG	p.P761L	GARNL3_uc011mad.1_Missense_Mutation_p.P739L|GARNL3_uc010mxi.2_5'UTR	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	761	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						TGTGCTTTCCCGTATCTCCTG	0.617		NaN											0	0	0	0.021523	0	24	65				
FAM73B	84895	broad.mit.edu	37	9	131802905	131802905	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:131802905T>C	uc004bxa.2	+	2	218	c.32T>C	c.(31-33)ATG>ACG	p.M11T	FAM73B_uc004bwy.2_RNA|FAM73B_uc004bwz.2_RNA|FAM73B_uc011mbn.1_Missense_Mutation_p.M11T	NM_032809	NP_116198	Q7L4E1	FA73B_HUMAN	hypothetical protein LOC84895	11	Helical; (Potential).					integral to membrane				skin(1)	1						GGCACGTCTATGATCCAGGCC	0.597		NaN											0	0	0	0.00874	0	40	47				
MED27	9442	broad.mit.edu	37	9	134955168	134955169	+	Nonsense_Mutation	DNP	GG	GG	AA			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:134955168_134955169GG>AA	uc004cbe.1	-	1	85_86	c.63_64CC>TT	c.(61-66)ATCCAG>ATTTAG	p.Q22*	MED27_uc004cbf.1_Nonsense_Mutation_p.Q22*|MED27_uc011mco.1_Nonsense_Mutation_p.Q22*|MED27_uc004cbg.3_Nonsense_Mutation_p.Q22*	NM_004269	NP_004260	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	22					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			skin(1)	1		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		CGCAGCGCCTGGATGGCACTAA	0.609		NaN											0	0	0	0.004672	0	17	12				
SHROOM2	357	broad.mit.edu	37	X	9900215	9900215	+	Silent	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:9900215A>G	uc004csu.1	+	6	2982	c.2892A>G	c.(2890-2892)AGA>AGG	p.R964R	SHROOM2_uc004csv.2_5'UTR|SHROOM2_uc011mic.1_5'UTR|SHROOM2_uc004csw.1_5'UTR	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	964					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				CTTCCTCTAGACAAGCAGATG	0.502		NaN											0	0	0	0.004656	0	27	16				
GPR64	10149	broad.mit.edu	37	X	19014182	19014182	+	Silent	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:19014182C>G	uc004cyx.2	-	27	2867	c.2703G>C	c.(2701-2703)CTG>CTC	p.L901L	GPR64_uc004cyy.2_Silent_p.L898L|GPR64_uc004cyz.2_Silent_p.L887L|GPR64_uc004czb.2_Silent_p.L901L|GPR64_uc004czc.2_Silent_p.L885L|GPR64_uc004czd.2_Silent_p.L877L|GPR64_uc004cze.2_Silent_p.L871L|GPR64_uc004czf.2_Silent_p.L863L|GPR64_uc004cza.2_Silent_p.L879L|GPR64_uc004cyw.2_Silent_p.L885L|GPR64_uc010nfj.2_Silent_p.L782L	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	901	Cytoplasmic (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					AATTTTCAGCCAGCCGTAACT	0.363		NaN											0	0	0	0.01441	0	50	16				
MAP3K15	389840	broad.mit.edu	37	X	19389508	19389508	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:19389508C>T	uc004czk.1	-	24	3311	c.1674G>A	c.(1672-1674)TCG>TCA	p.S558S	MAP3K15_uc004czj.1_Silent_p.S518S|MAP3K15_uc004czi.1_Silent_p.S17S	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase	1083							ATP binding|MAP kinase kinase kinase activity|metal ion binding			ovary(3)|lung(2)|stomach(1)|skin(1)	7	Hepatocellular(33;0.183)					GACTGATGGACGAGCTGTCAA	0.522		NaN											0	0	0	0.011902	0	43	13				
PRDX4	10549	broad.mit.edu	37	X	23700610	23700610	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:23700610C>G	uc004dam.2	+	5	740	c.697C>G	c.(697-699)CAA>GAA	p.Q233E		NM_006406	NP_006397	Q13162	PRDX4_HUMAN	peroxiredoxin 4	233	Thioredoxin.				cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity			upper_aerodigestive_tract(1)	1						ACGTTTGGTTCAAGCATTCCA	0.378		NaN											0	0	0	0.01441	0	46	7				
KDM6A	7403	broad.mit.edu	37	X	44922802	44922802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:44922802C>T	uc004dge.3	+	16	2038	c.1663C>T	c.(1663-1665)CAG>TAG	p.Q555*	KDM6A_uc010nhk.2_Nonsense_Mutation_p.Q521*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q607*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q510*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q562*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.Q259*|KDM6A_uc011mld.1_Nonsense_Mutation_p.Q194*	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	555					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						TAGCGTCTCTCAGCCTGGAGT	0.567		NaN	D|N|F|S		renal|oesophageal SCC|MM								0	0	0	0.004007	0	17	6		Valid		
SLC9A7	84679	broad.mit.edu	37	X	46529104	46529104	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:46529104G>A	uc004dgu.1	-	5	739	c.731C>T	c.(730-732)TCA>TTA	p.S244L	SLC9A7_uc004dgv.1_Missense_Mutation_p.S244L	NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	solute carrier family 9, member 7	244					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			ovary(2)	2						AAATTTATCTGAGAGCTGTCC	0.348		NaN											0	0	0	0.020292	0	15	5				
AR	367	broad.mit.edu	37	X	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	rs5902610		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:66765161A>T	uc004dwu.1	+	1	1288	c.173A>T	c.(172-174)CAG>CTG	p.Q58L	AR_uc011mpd.1_Missense_Mutation_p.Q58L|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.Q58L	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	58	Modulating.|Poly-Gln.|Gln-rich.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.328		NaN							Androgen_Insensitivity_Syndrome				0	0	0	0.00308	0	6	16				
SRPX2	27286	broad.mit.edu	37	X	99919817	99919817	+	Silent	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:99919817C>A	uc004egb.2	+	5	882	c.402C>A	c.(400-402)ACC>ACA	p.T134T		NM_014467	NP_055282	O60687	SRPX2_HUMAN	sushi-repeat-containing protein, X-linked 2	134	Sushi 2.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			ovary(2)	2						GCACTTACACCTGCACAAATG	0.512		NaN											1	0	0.004672	0.004672	0.00502611	3	13				
TCEAL2	140597	broad.mit.edu	37	X	101381895	101381895	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:101381895A>C	uc004eip.2	+	3	312	c.93A>C	c.(91-93)GAA>GAC	p.E31D		NM_080390	NP_525129	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	31					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						GAAAGCCAGAAGTAGCTTGTA	0.418		NaN											0	0	0	0.009096	0	3	40				
IL1RAPL2	26280	broad.mit.edu	37	X	105011334	105011334	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:105011334C>A	uc004elz.1	+	11	2497	c.1741C>A	c.(1741-1743)CTC>ATC	p.L581I		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	581	Cytoplasmic (Potential).				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3						TTTTGGAGAACTCCAGCCTAT	0.453		NaN											1	0	5.18039e-06	0.00308	5.77056e-06	7	54				
RNF113A	7737	broad.mit.edu	37	X	119005263	119005263	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:119005263G>A	uc004esb.2	-	1	529	c.314C>T	c.(313-315)TCG>TTG	p.S105L	NDUFA1_uc004esc.3_5'Flank	NM_006978	NP_008909	O15541	R113A_HUMAN	ring finger protein 113A	105							nucleic acid binding|zinc ion binding			breast(2)	2						GGGTTTCGCCGAACGGGTGGA	0.557		NaN											0	0	0	0.01441	0	194	31				
FAM122C	159091	broad.mit.edu	37	X	133979245	133979245	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:133979245T>C	uc004exz.1	+	4	662	c.257T>C	c.(256-258)ATG>ACG	p.M86T	FAM122C_uc011mvq.1_RNA|FAM122C_uc004exy.1_Missense_Mutation_p.M86T	NM_138819	NP_620174	Q6P4D5	F222C_HUMAN	hypothetical protein LOC159091	86											0	Acute lymphoblastic leukemia(192;0.000127)					GAAGAAGCCATGGATTTAATA	0.279		NaN											0	0	0	0.01441	0	109	27				
GPR112	139378	broad.mit.edu	37	X	135431715	135431715	+	Silent	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:135431715G>C	uc004ezu.1	+	6	6141	c.5850G>C	c.(5848-5850)GGG>GGC	p.G1950G	GPR112_uc010nsb.1_Silent_p.G1745G|GPR112_uc010nsc.1_Silent_p.G1717G	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1950	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					CTAACCATGGGCTTTCTGAGA	0.413		NaN											0	0	0	0.01441	0	82	18				
FGF13	2258	broad.mit.edu	37	X	137717743	137717743	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:137717743A>G	uc004fam.2	-	4	1138	c.476T>C	c.(475-477)ATA>ACA	p.I159T	FGF13_uc004fan.2_Missense_Mutation_p.I106T|FGF13_uc011mwi.1_Missense_Mutation_p.I140T|FGF13_uc004faq.2_Missense_Mutation_p.I169T|FGF13_uc004far.2_Missense_Mutation_p.I140T|FGF13_uc011mwj.1_Missense_Mutation_p.I169T|FGF13_uc011mwk.1_Missense_Mutation_p.I113T	NM_004114	NP_004105	Q92913	FGF13_HUMAN	fibroblast growth factor 13 isoform 1	159					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					CTGACGGTATATCATTGATGA	0.398		NaN											0	0	0	0.01441	0	53	6				
FMR1	2332	broad.mit.edu	37	X	147014278	147014278	+	Silent	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:147014278A>G	uc010nst.2	+	9	1065	c.876A>G	c.(874-876)TTA>TTG	p.L292L	FMR1_uc011mwz.1_Silent_p.L292L|FMR1_uc004fcj.2_Silent_p.L292L|FMR1_uc004fck.3_Silent_p.L292L|FMR1_uc004fcl.3_Silent_p.L153L|FMR1_uc011mxa.1_5'UTR	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	292	KH 2.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGGAACTTAGTAGGTAAGT	0.328		NaN							Fragile_X_syndrome				0	0	0	0.008361	0	31	11				
PLXNB3	5365	broad.mit.edu	37	X	153043511	153043511	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:153043511C>T	uc004fii.2	+	32	5544	c.5370C>T	c.(5368-5370)TTC>TTT	p.F1790F	PLXNB3_uc010nuk.2_Silent_p.F1813F|PLXNB3_uc011mzd.1_Silent_p.F1429F|SRPK3_uc004fik.2_5'UTR|SRPK3_uc010nul.2_5'Flank|SRPK3_uc004fin.2_5'Flank|SRPK3_uc004fil.2_5'Flank|SRPK3_uc004fim.2_5'Flank	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	1790	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGACCTTCATTGACTCCT	0.572		NaN											0	0	0	0.009535	0	29	6				
PADI2	11240	broad.mit.edu	37	1	17402183	17402190	+	Frame_Shift_Del	DEL	GGGGATGG	GGGGATGG	-	rs146438183	byFrequency	TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:17402183_17402190delGGGGATGG	uc001baf.2	-	12	1521_1528	c.1439_1446delCCATCCCC	c.(1438-1446)CCCATCCCCfs	p.P480fs	PADI2_uc010ocm.1_Frame_Shift_Del_p.P364fs	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	480_482					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CCTTTGTGCCGGGGATGGGGACAAAGGA	0.591		NaN									OREG0013145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NaN	NaN	NaN	NaN	NaN	36	52	---		---	---
CSTF2T	23283	broad.mit.edu	37	10	53459010	53459012	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr10:53459010_53459012delCTC	uc001jjp.2	-	1	344_346	c.298_300delGAG	c.(298-300)GAGdel	p.E100del	PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit	100					mRNA processing	nucleus	nucleotide binding|RNA binding			ovary(1)	1				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GGCTCTTTAACTCCTCCTTATTC	0.557		NaN											NaN	NaN	NaN	NaN	NaN	21	107	---		---	---
DUSP8	1850	broad.mit.edu	37	11	1577819	1577820	+	Frame_Shift_Del	DEL	CG	CG	-	rs61747093		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:1577819_1577820delCG	uc001lts.2	-	7	1934_1935	c.1806_1807delCG	c.(1804-1809)CGCGGCfs	p.R602fs		NM_004420	NP_004411	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	602_603					inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		AGCTCCTCGCCGCGCGCGCGCC	0.752		NaN											NaN	NaN	NaN	NaN	NaN	4	5	---		---	---
MTUS2	23281	broad.mit.edu	37	13	30077186	30077188	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr13:30077186_30077188delAGA	uc001usl.3	+	14	4041_4043	c.3983_3985delAGA	c.(3982-3987)GAGAAG>GAG	p.K1330del	MTUS2_uc001usm.3_In_Frame_Del_p.K299del|MTUS2_uc010aau.2_In_Frame_Del_p.K209del|MTUS2_uc010tdq.1_In_Frame_Del_p.K82del	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	1320	Potential.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						GAAACCCAGGAGAAGAAGAGATT	0.493		NaN											NaN	NaN	NaN	NaN	NaN	7	60	---		---	---
TMC7	79905	broad.mit.edu	37	16	19073098	19073101	+	Splice_Site	DEL	AGGA	AGGA	-			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:19073098_19073101delAGGA	uc002dfq.2	+	16	2237	c.2107_splice	c.e16-1	p.E703_splice	TMC7_uc010vap.1_Splice_Site_p.E593_splice	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7 isoform a							integral to membrane				skin(2)|ovary(1)	3						ATTATTTTTTAGGAAAGTCGTGAC	0.377		NaN											NaN	NaN	NaN	NaN	NaN	8	8	---		---	---
KIDINS220	57498	broad.mit.edu	37	2	8919881	8919894	+	Frame_Shift_Del	DEL	TCTGAGTGAAGCTG	TCTGAGTGAAGCTG	-			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:8919881_8919894delTCTGAGTGAAGCTG	uc002qzc.2	-	18	2462_2475	c.2280_2293delCAGCTTCACTCAGA	c.(2278-2295)GACAGCTTCACTCAGAATfs	p.D760fs	KIDINS220_uc010yiv.1_Frame_Shift_Del_p.D526fs|KIDINS220_uc002qzd.2_Frame_Shift_Del_p.D718fs|KIDINS220_uc010yiw.1_Frame_Shift_Del_p.D761fs	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	760_765	KAP NTPase.|Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTGTCTGATTCTGAGTGAAGCTGTCAATGGTTT	0.458		NaN											NaN	NaN	NaN	NaN	NaN	13	39	---		---	---
USP39	10713	broad.mit.edu	37	2	85852670	85852684	+	In_Frame_Del	DEL	GAAGCCCACTTTCAC	GAAGCCCACTTTCAC	-			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:85852670_85852684delGAAGCCCACTTTCAC	uc002sqe.2	+	5	615_629	c.579_593delGAAGCCCACTTTCAC	c.(577-594)TTGAAGCCCACTTTCACA>TTA	p.KPTFT194del	USP39_uc002sqb.2_5'UTR|USP39_uc010ysu.1_In_Frame_Del_p.KPTFT116del|USP39_uc010ysv.1_In_Frame_Del_p.KPTFT91del|USP39_uc010fgn.1_In_Frame_Del_p.KPTFT194del|USP39_uc002sqf.2_In_Frame_Del_p.KPTFT194del|USP39_uc002sqg.2_In_Frame_Del_p.KPTFT194del|USP39_uc010fgo.2_In_Frame_Del_p.KPTFT194del	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN	ubiquitin specific protease 39	194_198					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)	1						AGTATGTGTTGAAGCCCACTTTCACAAAGCAGCAA	0.391		NaN											NaN	NaN	NaN	NaN	NaN	9	80	---		---	---
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:98427639delT	uc002syh.3	-	18	2149	c.1920delA	c.(1918-1920)AAAfs	p.K640fs		NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	640						integral to membrane				ovary(4)|central_nervous_system(2)	6						TCCCCTCTAATTTTTTTGCAG	0.393		NaN											NaN	NaN	NaN	NaN	NaN	9	442	---		---	---
SLC22A1	6580	broad.mit.edu	37	6	160560699	160560713	+	In_Frame_Del	DEL	TGCTCTATCAGGGGC	TGCTCTATCAGGGGC	-			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:160560699_160560713delTGCTCTATCAGGGGC	uc003qtc.2	+	7	1181_1195	c.1076_1090delTGCTCTATCAGGGGC	c.(1075-1092)GTGCTCTATCAGGGGCTC>GTC	p.LYQGL360del	SLC22A1_uc003qtd.2_In_Frame_Del_p.LYQGL360del	NM_003057	NP_003048	O15245	S22A1_HUMAN	solute carrier family 22 member 1 isoform a	360_364	Helical; (Potential).					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding				0		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		ACGGACTCTGTGCTCTATCAGGGGCTCATCCTGCA	0.516		NaN											NaN	NaN	NaN	NaN	NaN	11	30	---		---	---
