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	Genome_Change	Annotation_Transcript	Transcript_Strand	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	i_ACHILLES_Top_Genes	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CCLE_SEQ_overlapping_mutations	i_CCLE_SEQ_total_mutations_in_gene	MUTSIG_Significant_Genes	OREGANNO_ID	OREGANNO_Values	i_tumor_f	i_init_t_lod	i_t_lod_fstar	i_t_alt_count	i_t_ref_count	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	Oncotatorv0393GAF20hg19Feb2011dbSNPbuild132UniProtRelease2011_6	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	newbase	context_orig	context65	gene_name	categ	categ_ignoring_null_categ
COL17A1	1308	broad.mit.edu	37	10	105833976	105833976	+	Silent	SNP	G	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:105833976G>A	uc001kxr.2	-	c.345C>T	c.(343-345)GGC>GGT	p.G115G	COL17A1_uc010qqv.1_Intron|COL17A1_uc009xxp.1_Silent_p.G115G	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	115	Cytoplasmic (Potential).|Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane				ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)										0.211864	120.610469	138.730337	50	186	KEEP	---	---	---	---	capture		Silent	SNP	105833976	105833976	3812	10	G	A	A	A	587	46	COL17A1	2	2
GAD2	2572	broad.mit.edu	37	10	26570005	26570005	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:26570005G>C	uc001isp.2	+	c.1225G>C	c.(1225-1227)GTT>CTT	p.V409L	GAD2_uc001isq.2_Missense_Mutation_p.V409L	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	409					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)	1					L-Glutamic Acid(DB00142)									0.24055	213.838553	231.687632	70	221	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26570005	26570005	6431	10	G	C	C	C	572	44	GAD2	3	3
PCSK7	9159	broad.mit.edu	37	11	117098010	117098010	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:117098010G>C	uc001pqr.2	-	c.632C>G	c.(631-633)TCT>TGT	p.S211C		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	211	Catalytic.|Extracellular (Potential).				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)						435				0.367347	190.212976	192.486799	54	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117098010	117098010	12026	11	G	C	C	C	429	33	PCSK7	3	3
CHST1	8534	broad.mit.edu	37	11	45671907	45671907	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:45671907G>T	uc001mys.1	-	c.567C>A	c.(565-567)AAC>AAA	p.N189K		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	189	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			pancreas(1)	1				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)										0.25	16.737919	18.101635	6	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45671907	45671907	3531	11	G	T	T	T	568	44	CHST1	2	2
OR5D14	219436	broad.mit.edu	37	11	55563901	55563901	+	Silent	SNP	G	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55563901G>T	uc010rim.1	+	c.870G>T	c.(868-870)CTG>CTT	p.L290L		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	290	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)												0.223404	58.023991	64.636019	21	73	KEEP	---	---	---	---	capture		Silent	SNP	55563901	55563901	11565	11	G	T	T	T	574	45	OR5D14	2	2
AHNAK	79026	broad.mit.edu	37	11	62293403	62293403	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62293403T>A	uc001ntl.2	-	c.8486A>T	c.(8485-8487)CAT>CTT	p.H2829L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2829					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)	14		Melanoma(852;0.155)												0.25641	120.827283	129.218745	40	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62293403	62293403	417	11	T	A	A	A	663	51	AHNAK	3	3
C11orf2	738	broad.mit.edu	37	11	64879032	64879032	+	Silent	SNP	G	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64879032G>A	uc001ocr.1	+	c.2322G>A	c.(2320-2322)GTG>GTA	p.V774V	TM7SF2_uc001oct.2_5'Flank|TM7SF2_uc010rny.1_5'Flank|TM7SF2_uc001ocu.2_5'Flank|TM7SF2_uc001ocv.2_5'Flank|C11orf2_uc001ocs.1_Silent_p.V650V	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	chromosome 11 open reading frame 2	774					lipid transport|protein transport	Golgi apparatus|integral to membrane					0														0.384615	15.27176	15.423556	5	8	KEEP	---	---	---	---	capture		Silent	SNP	64879032	64879032	1670	11	G	A	A	A	600	47	C11orf2	2	2
TM7SF2	7108	broad.mit.edu	37	11	64882511	64882512	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64882511_64882512CC>AA	uc001ocv.2	+	c.913_914CC>AA	c.(913-915)CCC>AAC	p.P305N	TM7SF2_uc001oct.2_Missense_Mutation_p.P284N|TM7SF2_uc010rny.1_Missense_Mutation_p.P168N|TM7SF2_uc001ocu.2_Missense_Mutation_p.P284N	NM_003273	NP_003264	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	284					cholesterol biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			ovary(1)	1														0.087719	1.928195	11.731959	5	52	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	64882511	64882512	16504	11	CC	AA	AA	AA	338	26	TM7SF2	2	2
TM7SF2	7108	broad.mit.edu	37	11	64882533	64882533	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64882533C>T	uc001ocv.2	+	c.935C>T	c.(934-936)TCT>TTT	p.S312F	TM7SF2_uc001oct.2_Missense_Mutation_p.S291F|TM7SF2_uc010rny.1_Missense_Mutation_p.S175F|TM7SF2_uc001ocu.2_Missense_Mutation_p.S291F	NM_003273	NP_003264	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	291	Helical; (Potential).				cholesterol biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			ovary(1)	1														0.512821	68.800681	68.806232	20	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64882533	64882533	16504	11	C	T	T	T	416	32	TM7SF2	2	2
MAP3K11	4296	broad.mit.edu	37	11	65375459	65375459	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65375459C>T	uc001oew.2	-	c.1003G>A	c.(1003-1005)GCT>ACT	p.A335T	MAP3K11_uc001oev.2_5'Flank|MAP3K11_uc010rol.1_Missense_Mutation_p.A78T|MAP3K11_uc001oex.1_5'UTR	NM_002419	NP_002410	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase	335	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|protein autophosphorylation|protein oligomerization	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|protein homodimerization activity			central_nervous_system(1)	1										130				0.407407	33.719867	33.922156	11	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65375459	65375459	9628	11	C	T	T	T	364	28	MAP3K11	2	2
CAPN5	726	broad.mit.edu	37	11	76825355	76825355	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:76825355G>A	uc009yup.2	+	c.694G>A	c.(694-696)GGT>AGT	p.G232S	CAPN5_uc001oxx.2_Missense_Mutation_p.G192S|CAPN5_uc009yuq.2_Missense_Mutation_p.G228S|CAPN5_uc001oxy.2_Missense_Mutation_p.G232S	NM_004055	NP_004046	O15484	CAN5_HUMAN	calpain 5	192	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity				0												OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.148876	98.730171	140.849758	53	303	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76825355	76825355	2747	11	G	A	A	A	611	47	CAPN5	2	2
CAPN5	726	broad.mit.edu	37	11	76829344	76829344	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:76829344G>C	uc009yup.2	+	c.1233G>C	c.(1231-1233)CAG>CAC	p.Q411H	CAPN5_uc001oxx.2_Missense_Mutation_p.Q371H|CAPN5_uc009yuq.2_Missense_Mutation_p.Q407H|CAPN5_uc001oxy.2_Missense_Mutation_p.Q411H|CAPN5_uc001oya.2_5'Flank	NM_004055	NP_004046	O15484	CAN5_HUMAN	calpain 5	371	Domain III.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity				0														0.26087	19.639959	20.829905	6	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76829344	76829344	2747	11	G	C	C	C	425	33	CAPN5	3	3
SLC36A4	120103	broad.mit.edu	37	11	92918921	92918921	+	Nonsense_Mutation	SNP	C	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92918921C>A	uc001pdn.2	-	c.115G>T	c.(115-117)GAA>TAA	p.E39*	SLC36A4_uc001pdm.2_5'UTR	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid	39					amino acid transport	integral to membrane	symporter activity			ovary(2)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)												0.275168	115.004928	121.790916	41	108	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	92918921	92918921	15093	11	C	A	A	A	416	32	SLC36A4	5	2
IFT81	28981	broad.mit.edu	37	12	110570411	110570411	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:110570411A>G	uc001tqi.2	+	c.489A>G	c.(487-489)ATA>ATG	p.I163M	IFT81_uc001tqh.2_Missense_Mutation_p.I163M|IFT81_uc001tqj.2_Non-coding_Transcript|IFT81_uc001tqg.2_Missense_Mutation_p.I163M	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81-like isoform 1	163	Potential.				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				ovary(1)	1														0.26087	19.039725	20.229838	6	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110570411	110570411	7866	12	A	G	G	G	202	16	IFT81	4	4
MED13L	23389	broad.mit.edu	37	12	116421330	116421330	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:116421330G>C	uc001tvw.2	-	c.4547C>G	c.(4546-4548)ACT>AGT	p.T1516S		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1516					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		RNA polymerase II transcription mediator activity			skin(3)|ovary(1)|lung(1)	5	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)						497		OREG0022156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.30137	146.544281	151.687728	44	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116421330	116421330	9820	12	G	C	C	C	468	36	MED13L	3	3
KRAS	3845	broad.mit.edu	37	12	25398284	25398285	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:25398284_25398285CC>AA	uc001rgp.1	-	c.34_35GG>TT	c.(34-36)GGT>TTT	p.G12F	KRAS_uc001rgq.1_Missense_Mutation_p.G12F|KRAS_uc001rgr.2_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(6894)|p.G12V(4601)|p.G12C(2374)|p.G12A(1119)|p.G12S(1078)|p.G12R(674)|p.G12?(50)|p.G12F(33)|p.G12N(6)|p.G12L(5)|p.G12I(3)|p.G12W(3)|p.G12E(2)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)|p.G12_G13insG(1)		large_intestine(11742)|pancreas(3256)|lung(2694)|biliary_tract(514)|ovary(437)|endometrium(339)|haematopoietic_and_lymphoid_tissue(303)|stomach(179)|thyroid(145)|prostate(85)|soft_tissue(75)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|breast(27)|liver(21)|testis(17)|oesophagus(15)|central_nervous_system(8)|peritoneum(5)|kidney(5)|salivary_gland(5)|thymus(5)|eye(4)|gastrointestinal_tract_(site_indeterminate)(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	20148	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12C(CALU1_LUNG)|G12V(PATU8988S_PANCREAS)|G12C(NCIH1792_LUNG)|G12D(SU8686_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12D(LS513_LARGE_INTESTINE)|G12D(PANC0203_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12C(HCC44_LUNG)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEC50B_ENDOMETRIUM)|G12V(NCIH2444_LUNG)|G12D(MCAS_OVARY)|G12D(ASPC1_PANCREAS)|G12V(SHP77_LUNG)|G12R(CAL62_THYROID)|G12D(HPAFII_PANCREAS)|G12A(NCIH2009_LUNG)|G12D(PANC0403_PANCREAS)|G12C(NCIH2030_LUNG)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(PANC0327_PANCREAS)|G12D(PANC0813_PANCREAS)|G12V(COLO668_LUNG)|G12V(NCIH441_LUNG)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12V(CAPAN2_PANCREAS)|G12R(HUPT3_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12R(HS274T_BREAST)|G12V(SW480_LARGE_INTESTINE)|G12V(QGP1_PANCREAS)|G12S(LS123_LARGE_INTESTINE)|G12C(SW837_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(RKN_OVARY)|G12C(IALM_LUNG)|G12C(UMUC3_URINARY_TRACT)|G12V(RERFLCAD2_LUNG)|G12C(LU99_LUNG)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12V(SH10TC_STOMACH)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12D(COLO678_LARGE_INTESTINE)|G12S(A549_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(RERFLCAD1_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH1373_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12C(MIAPACA2_PANCREAS)|G12V(DANG_PANCREAS)|G12D(L33_PANCREAS)|G12C(OV56_OVARY)|G12V(PATU8902_PANCREAS)|G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12R(KP2_PANCREAS)|G12D(SUIT2_PANCREAS)|G12C(NCIH2122_LUNG)|G12D(KP4_PANCREAS)|G12C(NCIH358_LUNG)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12C(SW1463_LARGE_INTESTINE)|G12V(RCM1_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12D(PANC1_PANCREAS)|G12C(SW1573_LUNG)	119	p.G12D(SNU1197-Tumor)|p.G12D(HEC1A-Tumor)|p.G12R(PSN1-Tumor)|p.G12R(CAL62-Tumor)|p.G12R(HUPT3-Tumor)|p.G12R(NCIH1339-Tumor)|p.G12D(SKLU1-Tumor)|p.G12S(KMS20-Tumor)|p.G12C(HCC44-Tumor)|p.G12D(GP2D-Tumor)|p.G12A(MM1S-Tumor)|p.G12C(NCIH2122-Tumor)|p.G12D(HCC1588-Tumor)|p.G12D(SNUC2A-Tumor)|p.G12D(SNU1033-Tumor)|p.G12A(KPNSI9S-Tumor)|p.G12A(NCIH1573-Tumor)|p.G12D(KARPAS620-Tumor)|p.G12C(HCC1171-Tumor)|p.G12D(KP1NL-Tumor)|p.G12D(MCAS-Tumor)|p.G12D(HPAFII-Tumor)|p.G12D(PANC04.03-Tumor)|p.G12C(LU65-Tumor)|p.G12C(NCIH1373-Tumor)|p.G12D(PANC10.05-Tumor)|p.G12S(A549-Tumor)|p.G12D(TGBC11TKB-Tumor)|p.G12R(TCCPAN2-Tumor)|p.G12C(NCIH1792-Tumor)|p.G12D(LS513-Tumor)|p.G12D(SW1990-Tumor)|p.G12D(SNU601-Tumor)|p.G12A(COLO775-Tumor)|p.G12R(KP2-Tumor)|p.G12D(ASPC1-Tumor)|p.G12A(SW1116-Tumor)|p.G12C(IALM-Tumor)|p.G12C(SW1463-Tumor)|p.G12C(OV56-Tumor)|p.G12D(CL40-Tumor)|p.G12C(SW1573-Tumor)|p.G12D(HEC1B-Tumor)|p.G12D(LS180-Tumor)|p.G12D(HEYA8-Tumor)|p.G12C(KYSE410-Tumor)|p.G12D(KP1N-Tumor)|p.G12C(SW837-Tumor)|p.G12C(NCIH23-Tumor)|p.G12C(MIAPACA2-Tumor)|p.G12D(PK1-Tumor)|p.G12D(SU.86.86-Tumor)|p.G12C(NCIH2030-Tumor)|p.G12S(LS123-Tumor)|p.G12C(LU99-Tumor)|p.G12C(NCIH2291-Tumor)|p.G12A(RERFLCAD1-Tumor)|p.G12D(PANC08.13-Tumor)|p.G12D(HEC50B-Tumor)|p.G12C(CALU1-Tumor)|p.G12A(NCIH2009-Tumor)|p.G12D(639V-Tumor)|p.G12D(SNU410-Tumor)|p.G12D(L3.3-Tumor)|p.G12C(KHM1B-Tumor)|p.G12D(SNU407-Tumor)|p.G12A(KMS28BM-Tumor)|p.G12D(PK59-Tumor)|p.G12V(SH10TC-Tumor)|p.G12C(NCIH358-Tumor)|p.G12D(PK45H-Tumor)|p.G12D(GSU-Tumor)|p.G12D(SNU869-Tumor)|p.G12D(HUCCT1-Tumor)|p.G12D(NCIH684-Tumor)|p.G12D(KP4-Tumor)|p.G12D(PANC02.03-Tumor)|p.G12A(RPMI8226-Tumor)|p.G12C(NCIH1385-Tumor)|p.G12V(PANC03.27-Tumor)|p.G12D(SNU1-Tumor)|p.G12D(AGS-Tumor)|p.G12D(SNU8-Tumor)|p.G12C(UMUC3-Tumor)|p.G12D(T3M10-Tumor)	262	TSP Lung(1;<1E-8)|Multiple Myeloma(2;<1E-6)			0.402597	101.709152	102.348217	31	46	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	25398284	25398285	8753	12	CC	AA	AA	AA	234	18	KRAS	2	2
PZP	5858	broad.mit.edu	37	12	9303303	9303303	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:9303303G>T	uc001qvl.2	-	c.4321C>A	c.(4321-4323)CAA>AAA	p.Q1441K	PZP_uc009zgl.2_Missense_Mutation_p.Q1227K	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|large_intestine(1)	4						Melanoma(125;1402 1695 4685 34487 38571)								0.208333	90.736239	103.966597	35	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9303303	9303303	13327	12	G	T	T	T	598	46	PZP	2	2
TNFSF13B	10673	broad.mit.edu	37	13	108922448	108922448	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:108922448G>C	uc001vqr.2	+	c.205G>C	c.(205-207)GTG>CTG	p.V69L	TNFSF13B_uc010agj.2_Missense_Mutation_p.V69L	NM_006573	NP_006564	Q9Y275	TN13B_HUMAN	tumor necrosis factor superfamily, member 13b	69	Extracellular (Potential).				cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding				0	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)											0.180905	89.580066	108.623739	36	163	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108922448	108922448	16847	13	G	C	C	C	572	44	TNFSF13B	3	3
COL4A1	1282	broad.mit.edu	37	13	110827061	110827061	+	Silent	SNP	A	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:110827061A>T	uc001vqw.3	-	c.3234T>A	c.(3232-3234)CCT>CCA	p.P1078P	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1078	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)											0.219212	239.457679	268.942616	89	317	KEEP	---	---	---	---	capture		Silent	SNP	110827061	110827061	3827	13	A	T	T	T	80	7	COL4A1	3	3
PCDH8	5100	broad.mit.edu	37	13	53418997	53418997	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:53418997C>A	uc001vhi.2	-	c.2911G>T	c.(2911-2913)GGG>TGG	p.G971W	PCDH8_uc001vhj.2_Missense_Mutation_p.G874W	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	971	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GBM(36;25 841 9273 49207)								0.195652	22.648748	26.619953	9	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53418997	53418997	11937	13	C	A	A	A	299	23	PCDH8	1	1
OR4K1	79544	broad.mit.edu	37	14	20404500	20404500	+	Silent	SNP	C	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20404500C>A	uc001vwj.1	+	c.675C>A	c.(673-675)GTC>GTA	p.V225V		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K,	225	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)										0.19697	83.672185	100.665096	39	159	KEEP	---	---	---	---	capture		Silent	SNP	20404500	20404500	11477	14	C	A	A	A	379	30	OR4K1	2	2
ACIN1	22985	broad.mit.edu	37	14	23547389	23547389	+	Silent	SNP	C	G	G			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23547389C>G	uc001wit.3	-	c.2268G>C	c.(2266-2268)CTG>CTC	p.L756L	ACIN1_uc001wis.3_Silent_p.L438L|ACIN1_uc010akg.2_Silent_p.L756L	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	756					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)	3	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)										0.319444	231.397489	237.655182	69	147	KEEP	---	---	---	---	capture		Silent	SNP	23547389	23547389	143	14	C	G	G	G	314	25	ACIN1	3	3
SPG11	80208	broad.mit.edu	37	15	44891010	44891010	+	Silent	SNP	G	C	C			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:44891010G>C	uc001ztx.2	-	c.3711C>G	c.(3709-3711)GCC>GCG	p.A1237A	SPG11_uc010ueh.1_Silent_p.A1237A|SPG11_uc010uei.1_Silent_p.A1237A|SPG11_uc001zty.1_5'UTR	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	1237	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)	4		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)										0.187192	87.118718	105.734444	38	165	KEEP	---	---	---	---	capture		Silent	SNP	44891010	44891010	15553	15	G	C	C	C	444	35	SPG11	3	3
HAPLN3	145864	broad.mit.edu	37	15	89422463	89422463	+	Silent	SNP	G	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:89422463G>A	uc002bnd.2	-	c.717C>T	c.(715-717)TAC>TAT	p.Y239Y	HAPLN3_uc002bnc.2_Silent_p.Y177Y|HAPLN3_uc002bne.2_Non-coding_Transcript	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	177	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	Lung NSC(78;0.0392)|all_lung(78;0.077)											OREG0023445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.129032	6.577307	10.732196	4	27	KEEP	---	---	---	---	capture		Silent	SNP	89422463	89422463	7238	15	G	A	A	A	568	44	HAPLN3	2	2
HOXB1	3211	broad.mit.edu	37	17	46608145	46608146	+	Missense_Mutation	DNP	CT	AA	AA			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:46608145_46608146CT>AA	uc002ink.1	-	c.121_122AG>TT	c.(121-123)AGC>TTC	p.S41F		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	41						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1														0.146341	11.068965	15.959652	6	35	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	46608145	46608146	7591	17	CT	AA	AA	AA	364	28	HOXB1	2	2
TLK2	11011	broad.mit.edu	37	17	60637432	60637432	+	Missense_Mutation	SNP	A	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:60637432A>T	uc010ddp.2	+	c.776A>T	c.(775-777)TAC>TTC	p.Y259F	TLK2_uc002izx.3_Missense_Mutation_p.Y107F|TLK2_uc002izz.3_Missense_Mutation_p.Y259F|TLK2_uc002jaa.3_Missense_Mutation_p.Y227F|TLK2_uc010wpd.1_Missense_Mutation_p.Y227F	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	259	Potential.				cell cycle|chromatin modification|intracellular signal transduction|protein phosphorylation|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|kidney(1)	2										505				0.239362	123.183278	134.840273	45	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60637432	60637432	16474	17	A	T	T	T	182	14	TLK2	3	3
SCN4A	6329	broad.mit.edu	37	17	62020210	62020210	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:62020210C>T	uc002jds.1	-	c.4264G>A	c.(4264-4266)GTG>ATG	p.V1422M		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1422	Helical; Name=S3 of repeat IV; (Potential).|IV.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)									0.065574	-2.747154	9.201327	4	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62020210	62020210	14402	17	C	T	T	T	247	19	SCN4A	1	1
ABCA8	10351	broad.mit.edu	37	17	66880001	66880001	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:66880001A>G	uc002jhq.2	-	c.3638T>C	c.(3637-3639)TTT>TCT	p.F1213S	ABCA8_uc002jhp.2_Missense_Mutation_p.F1173S|ABCA8_uc010wqq.1_Missense_Mutation_p.F1213S	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	1173	Helical; (Potential).					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)	2	Breast(10;4.56e-13)													0.206897	34.467076	39.084537	12	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66880001	66880001	39	17	A	G	G	G	13	1	ABCA8	4	4
GRB2	2885	broad.mit.edu	37	17	73328799	73328799	+	Missense_Mutation	SNP	A	C	C			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:73328799A>C	uc002jnx.3	-	c.158T>G	c.(157-159)ATA>AGA	p.I53R	GRB2_uc002jny.3_Missense_Mutation_p.I53R	NM_002086	NP_002077	P62993	GRB2_HUMAN	growth factor receptor-bound protein 2 isoform	53	SH3 1.				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity			ovary(3)	3	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)					123				0.159292	42.678779	55.172817	18	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73328799	73328799	7035	17	A	C	C	C	208	16	GRB2	4	4
DSG1	1828	broad.mit.edu	37	18	28908187	28908187	+	Silent	SNP	A	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28908187A>T	uc002kwp.2	+	c.252A>T	c.(250-252)ACA>ACT	p.T84T		NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	84	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			ovary(2)|central_nervous_system(2)	4			OV - Ovarian serous cystadenocarcinoma(10;0.00559)											0.189964	138.513313	163.585172	53	226	KEEP	---	---	---	---	capture		Silent	SNP	28908187	28908187	4960	18	A	T	T	T	93	8	DSG1	3	3
ASXL3	80816	broad.mit.edu	37	18	31323436	31323436	+	Silent	SNP	T	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:31323436T>A	uc010dmg.1	+	c.3624T>A	c.(3622-3624)CCT>CCA	p.P1208P	ASXL3_uc002kxq.2_Silent_p.P915P	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1208	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3														0.194444	36.707301	42.977586	14	58	KEEP	---	---	---	---	capture		Silent	SNP	31323436	31323436	1087	18	T	A	A	A	704	55	ASXL3	3	3
BCL2	596	broad.mit.edu	37	18	60985890	60985890	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:60985890C>G	uc002lit.1	-	c.10G>C	c.(10-12)GCT>CCT	p.A4P	BCL2_uc002liu.1_Missense_Mutation_p.A4P|BCL2_uc002liv.1_Missense_Mutation_p.A4P	NM_000633	NP_000624	P10415	BCL2_HUMAN	B-cell lymphoma protein 2 alpha isoform	4					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|transcription activator activity			central_nervous_system(1)	1		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)					37				0.108108	5.572668	11.20525	4	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60985890	60985890	1386	18	C	G	G	G	351	27	BCL2	3	3
KEAP1	9817	broad.mit.edu	37	19	10600408	10600408	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10600408G>A	uc002moq.1	-	c.1447C>T	c.(1447-1449)CGC>TGC	p.R483C	KEAP1_uc002mop.1_Missense_Mutation_p.R201C|KEAP1_uc002mor.1_Missense_Mutation_p.R483C	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	483	Kelch 4.			R->A: Loss of interaction with NFE2L2. Abolishes repression of NFE2L2-dependent gene expression. Loss of interaction with PGAM5.	regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(2)|ovary(1)|pancreas(1)	4			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)											0.108108	4.071513	9.708171	4	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10600408	10600408	8447	19	G	A	A	A	507	39	KEAP1	1	1
ZNF43	7594	broad.mit.edu	37	19	21991282	21991282	+	Silent	SNP	A	G	G			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:21991282A>G	uc002nqj.2	-	c.1557T>C	c.(1555-1557)TTT>TTC	p.F519F	ZNF43_uc010ecv.2_Silent_p.F513F|ZNF43_uc002nql.2_Silent_p.F513F|ZNF43_uc002nqm.2_Silent_p.F513F|ZNF43_uc002nqk.2_Silent_p.F449F	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	519	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)										0.362319	176.816848	179.117248	50	88	KEEP	---	---	---	---	capture		Silent	SNP	21991282	21991282	18496	19	A	G	G	G	167	13	ZNF43	4	4
ZNF536	9745	broad.mit.edu	37	19	31039011	31039011	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31039011G>T	uc002nsu.1	+	c.2485G>T	c.(2485-2487)GCT>TCT	p.A829S	ZNF536_uc010edd.1_Missense_Mutation_p.A829S	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	829					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.272727	98.036944	104.18569	36	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31039011	31039011	18568	19	G	T	T	T	442	34	ZNF536	2	2
ZNF829	374899	broad.mit.edu	37	19	37383369	37383369	+	Silent	SNP	C	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37383369C>A	uc002ofa.1	-	c.324G>T	c.(322-324)CTG>CTT	p.L108L	ZNF345_uc002oez.2_Intron	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.16129	21.306969	28.07679	10	52	KEEP	---	---	---	---	capture		Silent	SNP	37383369	37383369	18781	19	C	A	A	A	262	21	ZNF829	2	2
HNRNPL	3191	broad.mit.edu	37	19	39330766	39330766	+	Silent	SNP	A	G	G			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39330766A>G	uc010xul.1	-	c.1203T>C	c.(1201-1203)AAT>AAC	p.N401N	HNRNPL_uc010ege.1_Silent_p.N57N|HNRNPL_uc002ojj.1_Silent_p.N57N|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojk.2_Silent_p.N57N|HNRNPL_uc002ojl.2_Silent_p.N57N|HNRNPL_uc010xum.1_Silent_p.N268N|HNRNPL_uc002ojp.1_Silent_p.N57N|HNRNPL_uc010xun.1_3'UTR	NM_001533	NP_001524	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	401	RRM 3.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|promoter binding|protein binding|RNA binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)											0.192771	38.35231	45.666154	16	67	KEEP	---	---	---	---	capture		Silent	SNP	39330766	39330766	7562	19	A	G	G	G	102	8	HNRNPL	4	4
KLK3	354	broad.mit.edu	37	19	51359612	51359612	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51359612G>A	uc002pts.1	+	c.163G>A	c.(163-165)GTG>ATG	p.V55M	KLK3_uc002ptp.1_Missense_Mutation_p.V55M|KLK3_uc010ycj.1_Missense_Mutation_p.V55M|KLK3_uc002ptr.1_Missense_Mutation_p.V55M|KLK3_uc010eof.1_Non-coding_Transcript	NM_001030047	NP_001025218	P07288	KLK3_HUMAN	prostate specific antigen isoform 3	55	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)|kidney(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		Colon(185;1767 2023 13025 30120 37630)				94				0.227907	124.367186	138.968451	49	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51359612	51359612	8719	19	G	A	A	A	572	44	KLK3	2	2
LILRB1	10859	broad.mit.edu	37	19	55143640	55143640	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55143640C>A	uc002qgm.2	+	c.613C>A	c.(613-615)CCC>ACC	p.P205T	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgj.2_Missense_Mutation_p.P205T|LILRB1_uc002qgl.2_Missense_Mutation_p.P205T|LILRB1_uc002qgk.2_Missense_Mutation_p.P205T|LILRB1_uc010erq.2_Missense_Mutation_p.P205T|LILRB1_uc010err.2_Non-coding_Transcript	NM_001081637	NP_001075106	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	205	Ig-like C2-type 2.|Extracellular (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(193;0.0188)										0.217593	111.000878	126.88859	47	169	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55143640	55143640	9116	19	C	A	A	A	390	30	LILRB1	2	2
PRAMEF1	65121	broad.mit.edu	37	1	12855612	12855612	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12855612T>A	uc001auj.1	+	c.892T>A	c.(892-894)TTG>ATG	p.L298M		NM_023013	NP_075389	O95521	PRAM1_HUMAN	PRAME family member 1	298											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)										0.266854	267.661611	285.140609	95	261	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12855612	12855612	12861	1	T	A	A	A	725	56	PRAMEF1	3	3
OR10J1	26476	broad.mit.edu	37	1	159410483	159410483	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159410483G>A	uc010piv.1	+	c.935G>A	c.(934-936)TGC>TAC	p.C312Y		NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	312	Cytoplasmic (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)													0.157895	45.396409	62.36532	24	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159410483	159410483	11316	1	G	A	A	A	598	46	OR10J1	2	2
TNN	63923	broad.mit.edu	37	1	175097855	175097855	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175097855C>G	uc001gkl.1	+	c.3303C>G	c.(3301-3303)GAC>GAG	p.D1101E		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	1101	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)						470				0.167598	140.169939	177.654844	60	298	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175097855	175097855	16864	1	C	G	G	G	220	17	TNN	3	3
PARP1	142	broad.mit.edu	37	1	226549183	226549183	+	Missense_Mutation	SNP	T	C	C			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:226549183T>C	uc001hqd.3	-	c.3023A>G	c.(3022-3024)AAT>AGT	p.N1008S		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	1008	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			ovary(2)|breast(2)|lung(1)	5	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)						1012				0.328767	158.545552	162.343355	48	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	226549183	226549183	11871	1	T	C	C	C	676	52	PARP1	4	4
RYR2	6262	broad.mit.edu	37	1	237819148	237819148	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237819148G>C	uc001hyl.1	+	c.7993G>C	c.(7993-7995)GCA>CCA	p.A2665P		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2665	Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.181818	15.329203	18.467969	6	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237819148	237819148	14249	1	G	C	C	C	546	42	RYR2	3	3
CCDC21	64793	broad.mit.edu	37	1	26603225	26603225	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:26603225A>G	uc001bls.1	+	c.2102A>G	c.(2101-2103)AAT>AGT	p.N701S	SH3BGRL3_uc001blu.2_5'Flank|CCDC21_uc001blr.2_Missense_Mutation_p.N701S|CCDC21_uc010ofa.1_Missense_Mutation_p.N650S|CCDC21_uc001blt.1_Missense_Mutation_p.N133S	NM_022778	NP_073615	Q6P2H3	CCD21_HUMAN	coiled-coil domain containing 21	701											0		all_cancers(24;7e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.6e-26)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;9.48e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00917)|READ - Rectum adenocarcinoma(331;0.0649)										0.325	43.163205	44.249158	13	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26603225	26603225	2918	1	A	G	G	G	52	4	CCDC21	4	4
CCDC27	148870	broad.mit.edu	37	1	3677924	3677924	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:3677924C>T	uc001akv.2	+	c.791C>T	c.(790-792)GCC>GTC	p.A264V		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	264	Potential.										0	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)										0.166667	9.755838	12.916521	5	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3677924	3677924	2923	1	C	T	T	T	338	26	CCDC27	2	2
ERMAP	114625	broad.mit.edu	37	1	43296552	43296552	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:43296552C>T	uc001cic.1	+	c.199C>T	c.(199-201)CGG>TGG	p.R67W	ERMAP_uc010ojw.1_Missense_Mutation_p.R128W|ERMAP_uc001cid.1_Intron|ERMAP_uc001cie.1_Missense_Mutation_p.R67W|ERMAP_uc001cif.1_5'UTR	NM_001017922	NP_001017922	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein	67	Ig-like V-type.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)												0.178571	10.557195	13.280636	5	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43296552	43296552	5427	1	C	T	T	T	347	27	ERMAP	1	1
SIRPG	55423	broad.mit.edu	37	20	1629958	1629958	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:1629958G>A	uc002wfm.1	-	c.170C>T	c.(169-171)TCC>TTC	p.S57F	SIRPG_uc002wfn.1_Missense_Mutation_p.S57F|SIRPG_uc002wfo.1_Missense_Mutation_p.S57F	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma isoform 1	57	Extracellular (Potential).|Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|plasma membrane	protein binding			ovary(1)	1														0.177632	59.225525	74.10746	27	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1629958	1629958	14831	20	G	A	A	A	533	41	SIRPG	2	2
CHD6	84181	broad.mit.edu	37	20	40054003	40054003	+	Silent	SNP	G	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:40054003G>T	uc002xka.1	-	c.4161C>A	c.(4159-4161)CCC>CCA	p.P1387P		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1387					chromatin assembly or disassembly|chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|lung(2)|central_nervous_system(1)|skin(1)	10		Myeloproliferative disorder(115;0.00425)												0.23913	26.802092	29.660575	11	35	KEEP	---	---	---	---	capture		Silent	SNP	40054003	40054003	3463	20	G	T	T	T	444	35	CHD6	2	2
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48700726	48700726	+	Silent	SNP	G	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:48700726G>A	uc002xvf.2	-	c.906C>T	c.(904-906)CCC>CCT	p.P302P	UBE2V1_uc002xvb.2_Non-coding_Transcript|UBE2V1_uc002xva.2_Silent_p.P79P|UBE2V1_uc002xvc.2_Silent_p.P35P|UBE2V1_uc002xvd.2_Silent_p.P102P|UBE2V1_uc002xve.2_Silent_p.P102P	NM_199203	NP_954673	Q13404	UB2V1_HUMAN	TMEM189-UBE2V1 readthrough transcript	79					cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|post-translational protein modification|protein polyubiquitination|regulation of DNA repair|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus|ubiquitin conjugating enzyme complex	acid-amino acid ligase activity|protein binding|transcription activator activity				0			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)											0.353982	126.066648	128.190789	40	73	KEEP	---	---	---	---	capture		Silent	SNP	48700726	48700726	16646	20	G	A	A	A	548	43	TMEM189-UBE2V1	2	2
DSCAM	1826	broad.mit.edu	37	21	41465695	41465695	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:41465695C>T	uc002yyq.1	-	c.3803G>A	c.(3802-3804)GGA>GAA	p.G1268E	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1268	Fibronectin type-III 4.|Extracellular (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)	6		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				Melanoma(134;970 1778 1785 21664 32388)								0.20339	28.565004	33.385217	12	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41465695	41465695	4952	21	C	T	T	T	390	30	DSCAM	2	2
KRTAP10-9	386676	broad.mit.edu	37	21	46047658	46047658	+	Silent	SNP	T	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:46047658T>A	uc002zfp.3	+	c.570T>A	c.(568-570)CCT>CCA	p.P190P	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	keratin associated protein 10-9	190	18.|25 X 5 AA repeats of C-C-X(3).					keratin filament					0														0.223642	191.380542	213.357812	70	243	KEEP	---	---	---	---	capture		Silent	SNP	46047658	46047658	8831	21	T	A	A	A	704	55	KRTAP10-9	3	3
APOBEC3G	60489	broad.mit.edu	37	22	39479863	39479863	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:39479863C>A	uc003awx.2	+	c.709C>A	c.(709-711)CAG>AAG	p.Q237K	APOBEC3G_uc003awy.2_Missense_Mutation_p.Q170K	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	237					base conversion or substitution editing|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|positive regulation of defense response to virus by host|response to virus|transcription, RNA-dependent|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			central_nervous_system(1)	1	Melanoma(58;0.04)													0.16	25.248863	33.506726	12	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39479863	39479863	805	22	C	A	A	A	273	21	APOBEC3G	2	2
SULT4A1	25830	broad.mit.edu	37	22	44221917	44221917	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:44221917C>T	uc003bee.1	-	c.819G>A	c.(817-819)ATG>ATA	p.M273I	SULT4A1_uc003bed.1_Missense_Mutation_p.M194I|SULT4A1_uc003bef.1_Non-coding_Transcript|SULT4A1_uc011aqb.1_Missense_Mutation_p.M160I	NM_014351	NP_055166	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	273					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity				0		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)										0.236453	141.292844	154.182589	48	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44221917	44221917	15903	22	C	T	T	T	273	21	SULT4A1	2	2
ORC2L	4999	broad.mit.edu	37	2	201814323	201814323	+	Silent	SNP	A	C	C			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:201814323A>C	uc002uwr.2	-	c.282T>G	c.(280-282)GTT>GTG	p.V94V	ORC2L_uc010zhj.1_Silent_p.V94V	NM_006190	NP_006181	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	94					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding				0														0.37931	40.118874	40.489242	11	18	KEEP	---	---	---	---	capture		Silent	SNP	201814323	201814323	11673	2	A	C	C	C	2	1	ORC2L	4	4
WDR69	164781	broad.mit.edu	37	2	228750068	228750068	+	Silent	SNP	A	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:228750068A>T	uc002vpn.1	+	c.42A>T	c.(40-42)GGA>GGT	p.G14G	WDR69_uc010zlw.1_5'UTR|WDR69_uc002vpo.1_Non-coding_Transcript	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	WD repeat domain 69	14										breast(1)	1		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)										0.21519	39.329329	45.246281	17	62	KEEP	---	---	---	---	capture		Silent	SNP	228750068	228750068	17892	2	A	T	T	T	106	9	WDR69	3	3
NGEF	25791	broad.mit.edu	37	2	233839373	233839373	+	Silent	SNP	C	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:233839373C>T	uc002vts.2	-	c.228G>A	c.(226-228)AAG>AAA	p.K76K		NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	76	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)|skin(1)	7		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)										0.281768	157.11013	164.818846	51	130	KEEP	---	---	---	---	capture		Silent	SNP	233839373	233839373	10794	2	C	T	T	T	311	24	NGEF	2	2
PER2	8864	broad.mit.edu	37	2	239186473	239186473	+	Silent	SNP	G	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:239186473G>A	uc002vyc.2	-	c.105C>T	c.(103-105)AGC>AGT	p.S35S	PER2_uc010znv.1_Silent_p.S35S|PER2_uc010znw.1_Silent_p.S35S|PER2_uc010fyx.1_Silent_p.S35S	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	35					circadian rhythm|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			breast(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)										0.142857	9.832829	14.986488	6	36	KEEP	---	---	---	---	capture		Silent	SNP	239186473	239186473	12151	2	G	A	A	A	594	46	PER2	2	2
OTOF	9381	broad.mit.edu	37	2	26686436	26686436	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:26686436G>T	uc002rhk.2	-	c.5107C>A	c.(5107-5109)CGC>AGC	p.R1703S	OTOF_uc010yla.1_Missense_Mutation_p.R433S|OTOF_uc002rhh.2_Missense_Mutation_p.R936S|OTOF_uc002rhi.2_Missense_Mutation_p.R1013S|OTOF_uc002rhj.2_Missense_Mutation_p.R936S	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1703	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GBM(102;732 1451 20652 24062 31372)								0.428571	10.527809	10.558012	3	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26686436	26686436	11715	2	G	T	T	T	507	39	OTOF	1	1
GALNT14	79623	broad.mit.edu	37	2	31178571	31178571	+	Silent	SNP	G	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:31178571G>T	uc002rns.2	-	c.582C>A	c.(580-582)ATC>ATA	p.I194I	GALNT14_uc002rnq.2_Silent_p.I169I|GALNT14_uc002rnr.2_Silent_p.I189I|GALNT14_uc010ymr.1_Silent_p.I154I|GALNT14_uc010ezo.1_Silent_p.I156I|GALNT14_uc010ezp.1_Silent_p.I160I	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	189	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	Acute lymphoblastic leukemia(172;0.155)													0.287671	119.096877	124.995874	42	104	KEEP	---	---	---	---	capture		Silent	SNP	31178571	31178571	6476	2	G	T	T	T	473	37	GALNT14	1	1
CASR	846	broad.mit.edu	37	3	122003109	122003109	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:122003109C>A	uc003eew.3	+	c.2338C>A	c.(2338-2340)CTC>ATC	p.L780I	CASR_uc003eev.3_Missense_Mutation_p.L770I	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	770	Helical; Name=5; (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)									0.232877	84.396118	93.921123	34	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122003109	122003109	2801	3	C	A	A	A	312	24	CASR	2	2
ALDH1L1	10840	broad.mit.edu	37	3	125877379	125877379	+	Silent	SNP	C	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:125877379C>A	uc003eim.1	-	c.231G>T	c.(229-231)GGG>GGT	p.G77G	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Silent_p.G77G|ALDH1L1_uc003eio.2_5'Flank|ALDH1L1_uc010hsf.1_Silent_p.G103G|ALDH1L1_uc003eip.1_5'UTR|ALDH1L1_uc011bkj.1_Intron	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	77	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process|oxidation-reduction process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)									0.197674	40.156966	47.453088	17	69	KEEP	---	---	---	---	capture		Silent	SNP	125877379	125877379	497	3	C	A	A	A	275	22	ALDH1L1	2	2
FBLN2	2199	broad.mit.edu	37	3	13649600	13649600	+	Nonsense_Mutation	SNP	G	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:13649600G>T	uc011ava.1	+	c.1345G>T	c.(1345-1347)GGA>TGA	p.G449*	FBLN2_uc011auz.1_Nonsense_Mutation_p.G475*|FBLN2_uc011avb.1_Nonsense_Mutation_p.G449*|FBLN2_uc011avc.1_Nonsense_Mutation_p.G449*	NM_001004019	NP_001004019	P98095	FBLN2_HUMAN	fibulin 2 isoform a precursor	449	Anaphylatoxin-like 1.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)											0.25	36.854706	39.805564	13	39	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	13649600	13649600	5935	3	G	T	T	T	507	39	FBLN2	5	1
MME	4311	broad.mit.edu	37	3	154858045	154858045	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:154858045G>T	uc010hvr.1	+	c.921G>T	c.(919-921)CAG>CAT	p.Q307H	MME_uc003fab.1_Missense_Mutation_p.Q307H|MME_uc003fac.1_Missense_Mutation_p.Q307H|MME_uc003fad.1_Missense_Mutation_p.Q307H|MME_uc003fae.1_Missense_Mutation_p.Q307H	NM_007289	NP_009220	P08473	NEP_HUMAN	membrane metallo-endopeptidase	307	Extracellular (Potential).				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)									0.188235	73.093487	88.563523	32	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154858045	154858045	10035	3	G	T	T	T	425	33	MME	2	2
EFHB	151651	broad.mit.edu	37	3	19961381	19961381	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:19961381C>A	uc003cbl.3	-	c.940G>T	c.(940-942)GAT>TAT	p.D314Y	EFHB_uc003cbm.2_Missense_Mutation_p.D184Y	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	EF hand domain family, member B	314					signal transduction	proteinaceous extracellular matrix	calcium ion binding				0														0.179487	93.294766	115.91945	42	192	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19961381	19961381	5133	3	C	A	A	A	377	29	EFHB	2	2
EXOG	9941	broad.mit.edu	37	3	38565414	38565414	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38565414C>T	uc003cih.2	+	c.668C>T	c.(667-669)GCA>GTA	p.A223V	EXOG_uc010hhg.2_Non-coding_Transcript|EXOG_uc011ayq.1_Missense_Mutation_p.A173V|EXOG_uc003cij.2_Missense_Mutation_p.A83V|EXOG_uc010hhd.2_Missense_Mutation_p.A83V|EXOG_uc010hhe.2_Missense_Mutation_p.A83V|EXOG_uc003cik.2_Missense_Mutation_p.A83V|EXOG_uc010hhf.2_Missense_Mutation_p.A83V|EXOG_uc003cii.2_Missense_Mutation_p.A83V	NM_005107	NP_005098	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	223						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding				0														0.182927	61.53837	77.032824	30	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38565414	38565414	5505	3	C	T	T	T	325	25	EXOG	2	2
TRAK1	22906	broad.mit.edu	37	3	42244104	42244104	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:42244104G>T	uc003cky.2	+	c.1604G>T	c.(1603-1605)AGC>ATC	p.S535I	TRAK1_uc011azh.1_Missense_Mutation_p.S535I|TRAK1_uc011azi.1_Missense_Mutation_p.S535I|TRAK1_uc003ckz.3_Missense_Mutation_p.S461I|TRAK1_uc011azj.1_Missense_Mutation_p.S461I|TRAK1_uc003cla.2_Missense_Mutation_p.S477I	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	535					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						GBM(44;195 884 22595 31865 41850)								0.140845	17.098607	25.939581	10	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42244104	42244104	16993	3	G	T	T	T	442	34	TRAK1	2	2
CACNA1D	776	broad.mit.edu	37	3	53810712	53810712	+	Missense_Mutation	SNP	T	C	C			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:53810712T>C	uc003dgu.3	+	c.4505T>C	c.(4504-4506)TTA>TCA	p.L1502S	CACNA1D_uc003dgv.3_Missense_Mutation_p.L1482S|CACNA1D_uc003dgy.3_Missense_Mutation_p.L1467S|CACNA1D_uc003dgw.3_Missense_Mutation_p.L1149S|CACNA1D_uc003dgx.1_Missense_Mutation_p.L658S	NM_000720	NP_000711	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1482	Dihydropyridine binding (By similarity).|Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|liver(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)									0.153846	41.672852	55.075818	18	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53810712	53810712	2657	3	T	C	C	C	793	61	CACNA1D	4	4
CACNA2D3	55799	broad.mit.edu	37	3	54919343	54919343	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:54919343G>T	uc003dhf.2	+	c.1948G>T	c.(1948-1950)GCA>TCA	p.A650S	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.A556S|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.A384S	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	650	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)										0.183824	111.591311	137.109499	50	222	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54919343	54919343	2666	3	G	T	T	T	546	42	CACNA2D3	2	2
ROBO2	6092	broad.mit.edu	37	3	77147419	77147419	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:77147419G>A	uc003dpz.2	+	c.316G>A	c.(316-318)GGA>AGA	p.G106R	ROBO2_uc003dpy.3_Missense_Mutation_p.G106R|ROBO2_uc011bgj.1_Non-coding_Transcript|ROBO2_uc011bgk.1_Missense_Mutation_p.G106R	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	106	Ig-like C2-type 1.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|ovary(1)|large_intestine(1)|liver(1)	8				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)						1049				0.245399	114.716755	124.341012	40	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77147419	77147419	13993	3	G	A	A	A	455	35	ROBO2	2	2
PDS5A	23244	broad.mit.edu	37	4	39868522	39868522	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:39868522C>T	uc003guv.3	-	c.2601G>A	c.(2599-2601)ATG>ATA	p.M867I	PDS5A_uc010ifo.2_Missense_Mutation_p.M827I	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	867					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0														0.191011	39.723157	47.663467	17	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39868522	39868522	12112	4	C	T	T	T	221	17	PDS5A	2	2
RASL11B	65997	broad.mit.edu	37	4	53731759	53731759	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:53731759C>A	uc003gzt.2	+	c.534C>A	c.(532-534)TTC>TTA	p.F178L		NM_023940	NP_076429	Q9BPW5	RSLBB_HUMAN	RAS-like family 11 member B	178	Small GTPase-like.				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(32;0.0302)											0.211031	215.037661	247.27633	88	329	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53731759	53731759	13543	4	C	A	A	A	415	32	RASL11B	2	2
KIAA0232	9778	broad.mit.edu	37	4	6865249	6865249	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:6865249C>G	uc003gjr.3	+	c.3140C>G	c.(3139-3141)CCA>CGA	p.P1047R	KIAA0232_uc003gjq.3_Missense_Mutation_p.P1047R	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	1047							ATP binding			ovary(2)	2														0.307692	124.149151	128.435952	40	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6865249	6865249	8470	4	C	G	G	G	273	21	KIAA0232	3	3
UGT2B7	7364	broad.mit.edu	37	4	69962330	69962330	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:69962330C>T	uc003heg.3	+	c.92C>T	c.(91-93)GCA>GTA	p.A31V	UGT2B7_uc010ihq.2_Missense_Mutation_p.A31V	NM_001074	NP_001065	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2B7 precursor	31					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)	1														0.230284	185.407735	206.546028	73	244	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69962330	69962330	17520	4	C	T	T	T	325	25	UGT2B7	2	2
NPFFR2	10886	broad.mit.edu	37	4	72994591	72994591	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:72994591G>A	uc003hgg.2	+	c.589G>A	c.(589-591)GGC>AGC	p.G197S	NPFFR2_uc010iig.1_Intron|NPFFR2_uc003hgi.2_Missense_Mutation_p.G98S|NPFFR2_uc003hgh.2_Missense_Mutation_p.G95S	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	197	Helical; Name=2; (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)											0.238839	300.689207	328.597524	107	341	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72994591	72994591	10982	4	G	A	A	A	611	47	NPFFR2	2	2
STBD1	8987	broad.mit.edu	37	4	77230372	77230372	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:77230372G>T	uc003hka.2	+	c.296G>T	c.(295-297)AGA>ATA	p.R99I	STBD1_uc003hjy.2_3'UTR|STBD1_uc011cbv.1_3'UTR|STBD1_uc011cbw.1_5'UTR	NM_003943	NP_003934	O95210	STBD1_HUMAN	starch binding domain 1	99	Cytoplasmic (Potential).				carbohydrate metabolic process|muscle contraction	integral to plasma membrane|membrane fraction	carbohydrate binding|catalytic activity|protein binding			ovary(1)	1			Lung(101;0.196)											0.165138	35.075844	46.681846	18	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77230372	77230372	15794	4	G	T	T	T	429	33	STBD1	2	2
PPM1K	152926	broad.mit.edu	37	4	89183867	89183867	+	Nonsense_Mutation	SNP	G	C	C			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:89183867G>C	uc003hrm.3	-	c.999C>G	c.(997-999)TAC>TAG	p.Y333*		NM_152542	NP_689755	Q8N3J5	PPM1K_HUMAN	protein phosphatase 1K (PP2C domain containing)	333	PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)										0.203704	62.488375	71.289069	22	86	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	89183867	89183867	12778	4	G	C	C	C	516	40	PPM1K	5	3
PCDHA13	56136	broad.mit.edu	37	5	140261961	140261961	+	Silent	SNP	C	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140261961C>T	uc003lif.2	+	c.108C>T	c.(106-108)CCC>CCT	p.P36P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.P36P|PCDHA13_uc003lid.2_Silent_p.P36P	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	36	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			Melanoma(147;1739 1852 5500 27947 37288)								0.286885	103.721548	108.663877	35	87	KEEP	---	---	---	---	capture		Silent	SNP	140261961	140261961	11943	5	C	T	T	T	288	23	PCDHA13	1	1
RASGRF2	5924	broad.mit.edu	37	5	80388726	80388726	+	Silent	SNP	A	C	C			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:80388726A>C	uc003kha.1	+	c.1497A>C	c.(1495-1497)ACA>ACC	p.T499T	RASGRF2_uc011ctn.1_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	499	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|ovary(2)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)						847				0.203226	178.257581	203.598089	63	247	KEEP	---	---	---	---	capture		Silent	SNP	80388726	80388726	13534	5	A	C	C	C	54	5	RASGRF2	4	4
GPR98	84059	broad.mit.edu	37	5	89931018	89931018	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:89931018G>A	uc003kju.2	+	c.1927G>A	c.(1927-1929)GTT>ATT	p.V643I	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	643	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)										0.233184	138.399541	152.921316	52	171	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89931018	89931018	6997	5	G	A	A	A	572	44	GPR98	2	2
MOXD1	26002	broad.mit.edu	37	6	132641792	132641792	+	Silent	SNP	C	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:132641792C>T	uc003qdf.2	-	c.1341G>A	c.(1339-1341)ACG>ACA	p.T447T	MOXD1_uc003qde.2_Silent_p.T379T	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	447	Lumenal (Potential).				catecholamine metabolic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)										0.152174	29.586744	40.242269	14	78	KEEP	---	---	---	---	capture		Silent	SNP	132641792	132641792	10112	6	C	T	T	T	392	31	MOXD1	1	1
UNC93A	54346	broad.mit.edu	37	6	167717596	167717596	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:167717596G>T	uc003qvq.2	+	c.815G>T	c.(814-816)GGA>GTA	p.G272V	UNC93A_uc003qvr.2_Missense_Mutation_p.G230V	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	272	Helical; (Potential).					integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)										0.126087	41.50575	72.900447	29	201	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167717596	167717596	17555	6	G	T	T	T	533	41	UNC93A	2	2
UHRF1BP1	54887	broad.mit.edu	37	6	34802159	34802159	+	Silent	SNP	C	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:34802159C>T	uc003oju.3	+	c.504C>T	c.(502-504)CGC>CGT	p.R168R	UHRF1BP1_uc010jvm.1_Non-coding_Transcript|UHRF1BP1_uc010jvn.2_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	168										ovary(3)	3														0.237113	53.765679	59.901636	23	74	KEEP	---	---	---	---	capture		Silent	SNP	34802159	34802159	17526	6	C	T	T	T	314	25	UHRF1BP1	2	2
SLC26A8	116369	broad.mit.edu	37	6	35922941	35922941	+	Silent	SNP	G	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:35922941G>T	uc003olm.2	-	c.2220C>A	c.(2218-2220)GTC>GTA	p.V740V	SLC26A8_uc010jwa.2_Non-coding_Transcript|SLC26A8_uc003olk.2_Silent_p.V322V|SLC26A8_uc003oln.2_Silent_p.V740V|SLC26A8_uc003oll.2_Silent_p.V635V	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN	solute carrier family 26, member 8 isoform a	740	Interaction with RACGAP1.|STAS.|Cytoplasmic (Potential).				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			ovary(2)	2														0.205645	246.175527	286.027302	102	394	KEEP	---	---	---	---	capture		Silent	SNP	35922941	35922941	15020	6	G	T	T	T	470	37	SLC26A8	1	1
FAM83B	222584	broad.mit.edu	37	6	54805391	54805391	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:54805391G>T	uc003pck.2	+	c.1622G>T	c.(1621-1623)CGT>CTT	p.R541L		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	541				R -> S (in Ref. 4; BAB70873).						ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)													0.1875	63.348928	76.511575	27	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54805391	54805391	5860	6	G	T	T	T	520	40	FAM83B	1	1
ME1	4199	broad.mit.edu	37	6	84025069	84025069	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:84025069C>T	uc003pjy.2	-	c.664G>A	c.(664-666)GAT>AAT	p.D222N	ME1_uc011dzb.1_Missense_Mutation_p.D147N|ME1_uc011dzc.1_Missense_Mutation_p.D56N	NM_002395	NP_002386	P48163	MAOX_HUMAN	cytosolic malic enzyme 1	222					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|oxidation-reduction process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			ovary(1)	1		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)									0.160665	116.180884	155.798397	58	303	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84025069	84025069	9806	6	C	T	T	T	377	29	ME1	2	2
PDE1C	5137	broad.mit.edu	37	7	31876897	31876897	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:31876897G>T	uc003tco.1	-	c.1280C>A	c.(1279-1281)GCC>GAC	p.A427D	PDE1C_uc003tcm.1_Missense_Mutation_p.A367D|PDE1C_uc003tcn.1_Missense_Mutation_p.A367D|PDE1C_uc003tcr.2_Missense_Mutation_p.A367D|PDE1C_uc003tcs.2_Missense_Mutation_p.A367D	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	367	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			central_nervous_system(1)	1			GBM - Glioblastoma multiforme(11;0.216)											0.295833	202.623349	211.576222	71	169	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31876897	31876897	12056	7	G	T	T	T	546	42	PDE1C	2	2
ELMO1	9844	broad.mit.edu	37	7	37252962	37252962	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:37252962G>T	uc003tfk.1	-	c.932C>A	c.(931-933)ACC>AAC	p.T311N	ELMO1_uc011kbc.1_Missense_Mutation_p.T215N|ELMO1_uc010kxg.1_Missense_Mutation_p.T311N	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	311					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)	3														0.228571	156.99019	173.53205	56	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37252962	37252962	5257	7	G	T	T	T	572	44	ELMO1	2	2
ADCY8	114	broad.mit.edu	37	8	131792844	131792844	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:131792844G>A	uc003ytd.3	-	c.3548C>T	c.(3547-3549)CCA>CTA	p.P1183L	ADCY8_uc010mds.2_Missense_Mutation_p.P1052L	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	1183	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			large_intestine(1)|central_nervous_system(1)	2	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)											0.260417	208.976417	223.954575	75	213	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131792844	131792844	301	8	G	A	A	A	611	47	ADCY8	2	2
ENTPD4	9583	broad.mit.edu	37	8	23305214	23305214	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:23305214C>A	uc003xdl.2	-	c.391G>T	c.(391-393)GTG>TTG	p.V131L	ENTPD4_uc011kzu.1_Missense_Mutation_p.V131L|ENTPD4_uc003xdm.2_Missense_Mutation_p.V131L|ENTPD4_uc011kzv.1_Missense_Mutation_p.V131L|ENTPD4_uc011kzw.1_Missense_Mutation_p.V97L	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	131	Lumenal (Potential).				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			ovary(1)|kidney(1)	2		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)										0.230769	430.335923	476.13028	159	530	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23305214	23305214	5334	8	C	A	A	A	260	20	ENTPD4	2	2
CSMD1	64478	broad.mit.edu	37	8	2975964	2975964	+	Silent	SNP	A	G	G			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:2975964A>G	uc011kwk.1	-	c.6390T>C	c.(6388-6390)CAT>CAC	p.H2130H	CSMD1_uc011kwj.1_Silent_p.H1522H|CSMD1_uc010lrg.2_Silent_p.H198H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2130	Extracellular (Potential).|Sushi 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)										0.244186	113.362092	123.619981	42	130	KEEP	---	---	---	---	capture		Silent	SNP	2975964	2975964	4085	8	A	G	G	G	102	8	CSMD1	4	4
ANK1	286	broad.mit.edu	37	8	41554286	41554286	+	Silent	SNP	A	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:41554286A>T	uc003xom.2	-	c.2766T>A	c.(2764-2766)TCT>TCA	p.S922S	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Silent_p.S197S|ANK1_uc003xoi.2_Silent_p.S881S|ANK1_uc003xoj.2_Silent_p.S881S|ANK1_uc003xok.2_Silent_p.S881S|ANK1_uc003xol.2_Silent_p.S881S	NM_001142446	NP_001135918	P16157	ANK1_HUMAN	ankyrin 1 isoform 9	881					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)|breast(1)	8	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)											0.444444	13.398999	13.423192	4	5	KEEP	---	---	---	---	capture		Silent	SNP	41554286	41554286	623	8	A	T	T	T	184	15	ANK1	3	3
DCAF4L2	138009	broad.mit.edu	37	8	88885786	88885786	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:88885786C>A	uc003ydz.2	-	c.414G>T	c.(412-414)TTG>TTT	p.L138F		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	138										ovary(1)	1														0.178571	69.144052	85.482904	30	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88885786	88885786	4443	8	C	A	A	A	272	21	DCAF4L2	2	2
SCAI	286205	broad.mit.edu	37	9	127818229	127818229	+	Silent	SNP	T	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:127818229T>A	uc004bpd.2	-	c.225A>T	c.(223-225)CCA>CCT	p.P75P	SCAI_uc004bpe.2_Silent_p.P52P|SCAI_uc010mwu.2_Non-coding_Transcript	NM_173690	NP_775961	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion isoform 1	52	Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			ovary(2)|breast(2)|central_nervous_system(1)	5														0.345238	92.95018	94.726579	29	55	KEEP	---	---	---	---	capture		Silent	SNP	127818229	127818229	14350	9	T	A	A	A	756	59	SCAI	3	3
NOTCH1	4851	broad.mit.edu	37	9	139407481	139407481	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:139407481G>A	uc004chz.2	-	c.2459C>T	c.(2458-2460)CCC>CTC	p.P820L	NOTCH1_uc004cia.1_Missense_Mutation_p.P50L	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	820	Extracellular (Potential).|EGF-like 21; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of gene-specific transcription|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(781)|lung(11)|central_nervous_system(10)|breast(4)|upper_aerodigestive_tract(1)|large_intestine(1)|oesophagus(1)|pancreas(1)	810	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)						1552				0.545455	19.750736	19.770462	6	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139407481	139407481	10950	9	G	A	A	A	559	43	NOTCH1	2	2
BCORL1	63035	broad.mit.edu	37	X	129154963	129154963	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:129154963C>T	uc004evb.1	+	c.3445C>T	c.(3445-3447)CGG>TGG	p.R1149W	BCORL1_uc010nrd.1_Missense_Mutation_p.R1051W	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1149					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7														0.142857	12.1235	17.283427	6	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129154963	129154963	1408	23	C	T	T	T	295	23	BCORL1	1	1
IL1RAPL1	11141	broad.mit.edu	37	X	29973554	29973554	+	Nonsense_Mutation	SNP	G	T	T			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:29973554G>T	uc004dby.2	+	c.1708G>T	c.(1708-1710)GAG>TAG	p.E570*		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	570	Cytoplasmic (Potential).|Interaction with NCS1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5														0.206107	63.932095	74.446358	27	104	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	29973554	29973554	7962	23	G	T	T	T	585	45	IL1RAPL1	5	2
HDAC6	10013	broad.mit.edu	37	X	48681101	48681101	+	Silent	SNP	A	C	C			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:48681101A>C	uc011mmi.1	+	c.2409A>C	c.(2407-2409)CCA>CCC	p.P803P	HDAC6_uc004dks.1_Silent_p.P803P|HDAC6_uc010nig.1_Silent_p.P651P|HDAC6_uc004dkt.1_Silent_p.P803P|HDAC6_uc011mmk.1_Silent_p.P784P|HDAC6_uc004dkv.1_Silent_p.P451P|HDAC6_uc004dkw.1_Silent_p.P451P|HDAC6_uc004dkx.1_Silent_p.P166P	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	803					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of hydrogen peroxide metabolic process|negative regulation of oxidoreductase activity|negative regulation of proteolysis|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of microtubule-based movement|regulation of receptor activity|regulation of transcription, DNA-dependent|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|specific transcriptional repressor activity|tau protein binding|tubulin deacetylase activity|zinc ion binding			ovary(3)	3					Vorinostat(DB02546)	Pancreas(112;205 1675 2305 8976 15959)				170				0.176471	4.904571	8.485961	6	28	KEEP	---	---	---	---	capture		Silent	SNP	48681101	48681101	7294	23	A	C	C	C	67	6	HDAC6	4	4
ITIH5L	347365	broad.mit.edu	37	X	54784148	54784148	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:54784148C>A	uc004dtj.2	-	c.2359G>T	c.(2359-2361)GGT>TGT	p.G787C		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	787	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|ovary(1)|breast(1)|skin(1)	5									p.G787C(SKMES1-Tumor)	249				0.225974	225.712898	252.268561	87	298	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54784148	54784148	8212	23	C	A	A	A	273	21	ITIH5L	2	2
ZCCHC13	389874	broad.mit.edu	37	X	73524453	73524453	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:73524453C>A	uc004ebs.3	+	c.352C>A	c.(352-354)CTT>ATT	p.L118I		NM_203303	NP_976048	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	118	CCHC-type 5.						nucleic acid binding|zinc ion binding				0														0.225	122.564755	136.462554	45	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73524453	73524453	18170	23	C	A	A	A	260	20	ZCCHC13	2	2
RPS6KA6	27330	broad.mit.edu	37	X	83372454	83372454	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:83372454C>A	uc004eej.1	-	c.798G>T	c.(796-798)ATG>ATT	p.M266I	RPS6KA6_uc011mqt.1_Missense_Mutation_p.M266I|RPS6KA6_uc011mqu.1_Missense_Mutation_p.M163I|RPS6KA6_uc010nmo.1_Non-coding_Transcript	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	266	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|protein phosphorylation|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)	5										287				0.153846	29.986231	40.414001	14	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83372454	83372454	14135	23	C	A	A	A	325	25	RPS6KA6	2	2
PCDH19	57526	broad.mit.edu	37	X	99663203	99663203	+	Silent	SNP	T	A	A			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:99663203T>A	uc010nmz.2	-	c.393A>T	c.(391-393)GCA>GCT	p.A131A	PCDH19_uc004efw.3_Silent_p.A131A|PCDH19_uc004efx.3_Silent_p.A131A	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	131	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7														0.126761	15.123511	24.774157	9	62	KEEP	---	---	---	---	capture		Silent	SNP	99663203	99663203	11934	23	T	A	A	A	704	55	PCDH19	3	3
DGKZ	8525	broad.mit.edu	37	11	46388875	46388876	+	Frame_Shift_Ins	INS	-	C	C			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:46388875_46388876insC	uc001ncn.1	+	c.763_764insC	c.(763-765)GCCfs	p.A255fs	DGKZ_uc001nch.1_Frame_Shift_Ins_p.A83fs|DGKZ_uc010rgq.1_Frame_Shift_Ins_p.A32fs|DGKZ_uc001ncj.1_Frame_Shift_Ins_p.A32fs|DGKZ_uc010rgr.1_Frame_Shift_Ins_p.A32fs|DGKZ_uc001nck.1_5'UTR|DGKZ_uc001ncl.2_Frame_Shift_Ins_p.A66fs|DGKZ_uc001ncm.2_Frame_Shift_Ins_p.A66fs|DGKZ_uc009yky.1_Frame_Shift_Ins_p.A66fs|DGKZ_uc010rgs.1_Frame_Shift_Ins_p.A66fs|DGKZ_uc001nci.1_Frame_Shift_Ins_p.A32fs	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	diacylglycerol kinase zeta isoform 4	255					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			pancreas(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)										0.38			3	5		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	46388875	46388876	4653	11	-	C	C	C	546	42	DGKZ	5	5
ZNF831	128611	broad.mit.edu	37	20	57766219	57766220	+	Frame_Shift_Ins	INS	-	C	C			TCGA-67-3774-01	TCGA-67-3774-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57766219_57766220insC	uc002yan.2	+	c.145_146insC	c.(145-147)GCCfs	p.A49fs		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	49	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(29;0.0085)													0.46			6	7		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	57766219	57766220	18784	20	-	C	C	C	546	42	ZNF831	5	5
