Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
NDFIP2	54602	broad.mit.edu	37	13	80117788	80117788	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr13:80117788T>C	ENST00000218652.7	+	5	863	c.811T>C	c.(811-813)Tcc>Ccc	p.S271P		NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2	271					negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endoplasmic reticulum|Golgi membrane|integral to membrane|mitochondrion|multivesicular body membrane|perinuclear region of cytoplasm	signal transducer activity|WW domain binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		ATTTGGCCTTTCCTTGATCAA	0.378000													62	52					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642000													3	55					0	0	1	0	0
SLC12A1	6557	broad.mit.edu	37	15	48539642	48539642	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr15:48539642G>A	ENST00000396577.3	+	13	1884	c.1669G>A	c.(1669-1671)Gca>Aca	p.A557T	SLC12A1_ENST00000558405.1_Missense_Mutation_p.A557T|SLC12A1_ENST00000380993.3_Missense_Mutation_p.A557T	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	557					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TATAGCCATGGCATTTATTCT	0.328000													14	8					0	0	1	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401181	11401181	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr4:11401181G>A	ENST00000002596.5	-	2	1623	c.449C>T	c.(448-450)tCg>tTg	p.S150L		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	150						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CACGCGCTCCGACGGGTCTCG	0.597000													23	27					0	0	1	0	0
ANKRD44	91526	broad.mit.edu	37	2	198051803	198051803	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr2:198051803C>T	ENST00000282272.8	-	1	30	c.31G>A	c.(31-33)Ggt>Agt	p.G11S	ANKRD44_ENST00000409919.1_Missense_Mutation_p.G19S|ANKRD44_ENST00000539527.1_5'UTR|ANKRD44_ENST00000450567.1_5'UTR|ANKRD44_ENST00000409153.1_Missense_Mutation_p.G19S|ANKRD44_ENST00000328737.2_5'UTR	NM_001195144.1	NP_001182073.1	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	19							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCTGGATCACCGCTGAAGATT	0.443000													42	74					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103442111	103442111	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr14:103442111C>T	ENST00000361246.2	-	11	1705	c.1417G>A	c.(1417-1419)Ggc>Agc	p.G473S		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	473					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CGAGATGAGCCGTGGAGGGAC	0.557000													36	121					0	0	1	0	0
USP6NL	9712	broad.mit.edu	37	10	11531171	11531171	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr10:11531171C>T	ENST00000379237.1	-	10	988	c.594G>A	c.(592-594)atG>atA	p.M198I	USP6NL_ENST00000277575.5_Missense_Mutation_p.M215I	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	198	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CGTTCATATACATGAGGAGTA	0.483000													21	71					0	0	1	0	0
ZFR	51663	broad.mit.edu	37	5	32407029	32407029	+	Silent	SNP	A	A	T	rs139769264		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483000													3	56					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157	by1000genomes	TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1																						AGCTGCCACATAAGTTGTCCT	0.299000													5	46					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021797	132021797	+	Silent	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr2:132021797C>T	ENST00000356920.5	+	15	2863	c.2769C>T	c.(2767-2769)ttC>ttT	p.F923F	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	923	Actin-like.						ATP binding										CCCTGGACTTCGAGCAGGAGA	0.597000													8	250					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103269902	103269902	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr8:103269902C>T	ENST00000520539.1	-	58	8751	c.8145G>A	c.(8143-8145)tgG>tgA	p.W2715*	UBR5_ENST00000521922.1_Nonsense_Mutation_p.W2708*|UBR5_ENST00000220959.4_Nonsense_Mutation_p.W2714*|KB-431C1.5_ENST00000606361.1_RNA|UBR5_ENST00000518205.1_Nonsense_Mutation_p.W443*	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2715	HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTACTATTGACCAGAACCAAC	0.328000													8	109					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28405524	28405524	+	Splice_Site	SNP	T	T	C			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr17:28405524T>C	ENST00000394835.3	+	15	3219		c.e15+2		EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Splice_Site	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5								calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTCATGCAGGTACGTTTCCTA	0.463000													12	7					0	0	1	0	0
ABHD2	11057	broad.mit.edu	37	15	89736538	89736538	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr15:89736538A>G	ENST00000352732.5	+	10	1589	c.1069A>G	c.(1069-1071)Aaa>Gaa	p.K357E	ABHD2_ENST00000355100.3_Missense_Mutation_p.K357E|ABHD2_ENST00000565973.1_Missense_Mutation_p.K357E	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	357						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					AACCATTCCAAAATCTCTTTC	0.433000													29	42					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58587700	58587700	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr16:58587700G>T	ENST00000317147.5	-	22	3288	c.2956C>A	c.(2956-2958)Cat>Aat	p.H986N	CNOT1_ENST00000569732.1_Intron|CNOT1_ENST00000569240.1_Missense_Mutation_p.H981N|CNOT1_ENST00000441024.2_Missense_Mutation_p.H986N	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	986					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGTAAATGATGTGGAAATTGC	0.358000													25	35					1.42536e-11	1.45127e-11	1	1	0
RYR2	6262	broad.mit.edu	37	1	237777667	237777667	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr1:237777667G>A	ENST00000366574.2	+	37	5556	c.5239G>A	c.(5239-5241)Ggc>Agc	p.G1747S	RYR2_ENST00000542537.1_Missense_Mutation_p.G1731S|RYR2_ENST00000360064.6_Missense_Mutation_p.G1745S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1747	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|cytosol|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			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	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)			CAAAAAACACGGCCTTCCAGG	0.517000													9	13					0	0	1	0	0
WNT16	51384	broad.mit.edu	37	7	120979236	120979236	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr7:120979236G>A	ENST00000222462.2	+	4	1225	c.935G>A	c.(934-936)cGt>cAt	p.R312H	WNT16_ENST00000361301.2_Missense_Mutation_p.R302H	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	312					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					GAATGCAACCGTACATCAGAG	0.493000													19	27					0	0	1	0	0
GAGE2A	729447	broad.mit.edu	37	X	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	rs147803166	by1000genomes	TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chrX:49355893C>G	ENST00000362097.1	+	3	258	c.175C>G	c.(175-177)Cag>Gag	p.Q59E		NM_001127212.1	NP_001120684.1			G antigen 2A									p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562000													5	485					0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19770501	19770501	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr19:19770501C>T	ENST00000357324.6	-	3	612	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	ATP13A1_ENST00000291503.5_Missense_Mutation_p.V78M	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	196					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GCGTTTCCCACAGGAAAGGCC	0.517000													11	27					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125397652	125397652	+	Silent	SNP	T	T	C	rs146795524		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr12:125397652T>C	ENST00000536769.1	-	1	2242	c.666A>G	c.(664-666)gtA>gtG	p.V222V	UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.V222V			P0CG48	UBC_HUMAN	ubiquitin C	222	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGAGACGGAGTACCAGGTGCA	0.512000													4	167					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								35	58					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			20	2					0	0	1	0	0
CCDC148	130940	broad.mit.edu	37	2	159166120	159166120	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr2:159166120C>T	ENST00000283233.5	-	9	1248	c.935G>A	c.(934-936)cGc>cAc	p.R312H	CCDC148_ENST00000536771.1_Missense_Mutation_p.R226H|CCDC148_ENST00000409187.1_Missense_Mutation_p.R321H	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	312										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TATAGCAAAGCGATATTGGTC	0.348000													4	69					0	0	1	0	0
PDE4D	5144	broad.mit.edu	37	5	58272256	58272256	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr5:58272256T>C	ENST00000340635.6	-	13	1926	c.1751A>G	c.(1750-1752)gAt>gGt	p.D584G	PDE4D_ENST00000503258.1_Missense_Mutation_p.D454G|PDE4D_ENST00000317118.8_Missense_Mutation_p.D293G|PDE4D_ENST00000502484.2_Missense_Mutation_p.D523G|PDE4D_ENST00000546160.1_Missense_Mutation_p.D523G|PDE4D_ENST00000360047.5_Missense_Mutation_p.D448G|PDE4D_ENST00000358923.6_Missense_Mutation_p.D282G|PDE4D_ENST00000405755.2_Missense_Mutation_p.D462G|PDE4D_ENST00000507116.1_Missense_Mutation_p.D520G	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	584					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	AGTCTTCAAATCAGCCAGTAG	0.323000													6	7					0	0	1	0	0
RNF43	54894	broad.mit.edu	37	17	56439937	56439937	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr17:56439937G>A	ENST00000584437.1	-	5	2610	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000500597.2_Missense_Mutation_p.R178C|RNF43_ENST00000581868.1_Missense_Mutation_p.R92C|RNF43_ENST00000407977.2_Missense_Mutation_p.R219C|RNF43_ENST00000577716.1_Missense_Mutation_p.R219C|RNF43_ENST00000583753.1_Missense_Mutation_p.R178C|RNF43_ENST00000577625.1_Missense_Mutation_p.R92C			Q68DV7	RNF43_HUMAN	ring finger protein 43	219						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CACCGGATGCGCAGCACCGAA	0.607000													7	51					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84608365	84608365	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr9:84608365G>A	ENST00000344803.2	+	4	3027	c.2980G>A	c.(2980-2982)Gtc>Atc	p.V994I		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CTCACCTGTCGTCCAAGAAGG	0.502000													34	142					0	0	1	0	0
SLC4A2	6522	broad.mit.edu	37	7	150762020	150762020	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr7:150762020C>T	ENST00000485713.1	+	5	1585	c.545C>T	c.(544-546)gCg>gTg	p.A182V	SLC4A2_ENST00000461735.1_Missense_Mutation_p.A168V|SLC4A2_ENST00000310317.5_Missense_Mutation_p.A100V|SLC4A2_ENST00000413384.2_Missense_Mutation_p.A182V|SLC4A2_ENST00000392826.2_Missense_Mutation_p.A173V	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	182	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACCAGGAGGCGACTCCTCGG	0.587000													14	38					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48445969	48445969	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr3:48445969G>A	ENST00000358536.4	-	38	6601	c.6332C>T	c.(6331-6333)aCg>aTg	p.T2111M	PLXNB1_ENST00000448774.2_Missense_Mutation_p.T722M|PLXNB1_ENST00000456774.1_Missense_Mutation_p.T1928M|PLXNB1_ENST00000296440.6_Missense_Mutation_p.T2111M|PLXNB1_ENST00000358459.4_Missense_Mutation_p.T1928M	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	2111					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTTCTGGGCCGTGCCATCCTC	0.547000													11	12					0	0	1	0	0
CNNM3	26505	broad.mit.edu	37	2	97492662	97492662	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr2:97492662T>C	ENST00000305510.3	+	3	1490	c.1462T>C	c.(1462-1464)Tat>Cat	p.Y488H	ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000377060.3_Missense_Mutation_p.Y440H	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin M3	488					ion transport	integral to membrane|plasma membrane	protein binding			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						TGATGATGAATATAAAGTAAC	0.567000													43	44					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78925604	78925604	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr9:78925604T>C	ENST00000545128.1	+	29	4178	c.3640T>C	c.(3640-3642)Tcc>Ccc	p.S1214P		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	866					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTGTGTTTCCTCCTGTCCCCA	0.517000													12	19					0	0	1	0	0
KCNK16	83795	broad.mit.edu	37	6	39284602	39284602	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr6:39284602G>A	ENST00000425054.2	-	4	616	c.617C>T	c.(616-618)gCt>gTt	p.A206V	KCNK16_ENST00000437525.2_Missense_Mutation_p.A206V|KCNK16_ENST00000373227.4_Missense_Mutation_p.A206V|KCNK16_ENST00000373229.5_Missense_Mutation_p.A206V|KCNK16_ENST00000507712.1_Missense_Mutation_p.A141V	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	206				FAF -> LLS (in Ref. 2; AAP82867).		integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						AGTGATGAAAGCAAAGTAGAA	0.542000													4	201					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76829787	76829787	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chrX:76829787C>G	ENST00000373344.5	-	28	6468	c.6254G>C	c.(6253-6255)cGt>cCt	p.R2085P	ATRX_ENST00000395603.3_Missense_Mutation_p.R2047P|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2085	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ACCATCTAAACGGTAATAGTC	0.363000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						84	16					0	0	1	0	0
SPRR2D	6703	broad.mit.edu	37	1	153012733	153012733	+	Silent	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr1:153012733C>T	ENST00000368757.1	-	2	370	c.90G>A	c.(88-90)ccG>ccA	p.P30P	SPRR2D_ENST00000368756.1_Silent_p.P30P|SPRR2D_ENST00000360379.3_Silent_p.P30P|SPRR2D_ENST00000368758.3_Silent_p.P30P			P22532	SPR2D_HUMAN	small proline-rich protein 2D	30	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-[PS].				keratinization	cornified envelope|cytoplasm				endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGGCACTTCGGGGGTGGAC	0.617000													79	90					0	0	1	0	0
AADAT	51166	broad.mit.edu	37	4	170990336	170990336	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr4:170990336T>A	ENST00000337664.4	-	7	1042	c.766A>T	c.(766-768)Atc>Ttc	p.I256F	AADAT_ENST00000515480.1_Missense_Mutation_p.I256F|AADAT_ENST00000353187.2_Missense_Mutation_p.I256F|AADAT_ENST00000509167.1_Missense_Mutation_p.I260F	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	256					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TCAGCTCTGATGACACGTCCA	0.388000													25	37					0	0	1	0	0
GOLGA6L7P	0	broad.mit.edu	37	15	29092257	29092257	+	RNA	SNP	C	C	T	rs75388271	by1000genomes	TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr15:29092257C>T	ENST00000569815.1	-	0	258					NR_047567.1																						TCAGGGTTAGCGCCATGATTT	0.547000													3	25					0	0	1	0	0
POGLUT1	56983	broad.mit.edu	37	3	119187879	119187879	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr3:119187879G>A	ENST00000295588.4	+	1	95	c.11G>A	c.(10-12)tGg>tAg	p.W4*		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	4						endoplasmic reticulum lumen	UDP-glucosyltransferase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						ATGGAGTGGTGGGCTAGCTCG	0.711000													3	3					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148038126	148038126	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chrX:148038126G>T	ENST00000370460.2	+	11	3030	c.2551G>T	c.(2551-2553)Ggc>Tgc	p.G851C	AFF2_ENST00000342251.3_Missense_Mutation_p.G818C|AFF2_ENST00000286437.5_Missense_Mutation_p.G492C|AFF2_ENST00000370457.5_Missense_Mutation_p.G818C	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	851					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCCCTAAGGGCAAACGTAA	0.517000													24	6					7.87624e-14	8.16796e-14	1	1	0
LHX1	3975	broad.mit.edu	37	17	35298051	35298051	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr17:35298051G>A	ENST00000254457.5	+	3	1953	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	181					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				GCCAAGCGGCGGGGACCGCGC	0.667000													20	21					0	0	1	0	0
ARID3C	138715	broad.mit.edu	37	9	34623537	34623537	+	Silent	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr9:34623537C>T	ENST00000378909.2	-	4	842	c.750G>A	c.(748-750)ttG>ttA	p.L250L		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	250	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		GGCCGGGACCCAAGGCTGGGT	0.721000													19	16					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183710374	183710374	+	Silent	SNP	G	G	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr4:183710374G>A	ENST00000511685.1	+	25	5556	c.5433G>A	c.(5431-5433)ctG>ctA	p.L1811L	TENM3_ENST00000406950.2_Silent_p.L1811L					teneurin transmembrane protein 3																		CTCTCTGGCTGCCAAGCAGCA	0.498000													11	12					0	0	1	0	0
MED16	10025	broad.mit.edu	37	19	877046	877046	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr19:877046C>A	ENST00000312090.6	-	9	1638	c.1488G>T	c.(1486-1488)caG>caT	p.Q496H	MED16_ENST00000269814.4_Missense_Mutation_p.Q496H|MED16_ENST00000606828.1_Intron|MED16_ENST00000589119.1_Missense_Mutation_p.Q496H|MED16_ENST00000395808.3_Missense_Mutation_p.Q496H|MED16_ENST00000325464.1_Missense_Mutation_p.Q496H			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	496					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCATACTGGGCTGCACGTGCA	0.682000													48	10					1.19451e-25	1.26213e-25	1	1	0
RASSF2	9770	broad.mit.edu	37	20	4771250	4771250	+	Silent	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr20:4771250C>T	ENST00000379400.3	-	7	579	c.384G>A	c.(382-384)agG>agA	p.R128R	RASSF2_ENST00000379376.2_Silent_p.R128R|RASSF2_ENST00000478553.1_5'UTR	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	128					cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GCTTCAGGCCCCTGGAGTCTG	0.607000													11	21					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587000													3	48					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103194689	103194689	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr11:103194689C>T	ENST00000375735.2	+	82	12154	c.12010C>T	c.(12010-12012)Cgc>Tgc	p.R4004C	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R4011C|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4004					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CAATATCGCTCGCTCATCTCA	0.393000													4	27					0	0	1	0	0
IFT74	80173	broad.mit.edu	37	9	27062702	27062702	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr9:27062702G>A	ENST00000443698.1	+	20	1942	c.1771G>A	c.(1771-1773)Gtg>Atg	p.V591M	IFT74_ENST00000380062.5_Missense_Mutation_p.V591M|IFT74_ENST00000433700.1_Missense_Mutation_p.V591M	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74 homolog (Chlamydomonas)	591						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TAAAACCATCGTGGATGCTTT	0.403000													21	31					0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr1:248616705_248616711delTGCTGCG	ENST00000342927.3	+	1	629_635	c.607_613delTGCTGCG	c.(607-615)tgfs	p.CCV203fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527													7	35	---	---	---	---					
IL17RD	54756	broad.mit.edu	37	3	57144240	57144240	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr3:57144240delT	ENST00000296318.7	-	4	498	c.410delA	c.(409-411)acfs	p.N137fs	IL17RD_ENST00000427856.2_Frame_Shift_Del_p.N113fs|IL17RD_ENST00000320057.5_5'UTR|IL17RD_ENST00000463523.1_5'UTR	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	137						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GAAGCTACTGTTGAGCTGCTT	0.463													2	4	---	---	---	---					
PTPRZ1	5803	broad.mit.edu	37	7	121651419	121651420	+	In_Frame_Ins	INS	-	-	TTG			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr7:121651419_121651420insTTG	ENST00000393386.2	+	12	2730_2731	c.2319_2320insTTG	c.(2317-2322)cctgtt>ccTTGtgtt	p.773_774PV>PCV	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	773					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TAGTCACCCCTTTGTTGCTTGA	0.485													8	122	---	---	---	---					
KIFC2	90990	broad.mit.edu	37	8	145698697	145698697	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr8:145698697delT	ENST00000301332.2	+	17	2758	c.2381delT	c.(2380-2382)cgfs	p.L794fs	KIFC2_ENST00000301331.5_3'UTR	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	794	Pro-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CGCCGTCCCCTGGCAGTCCTC	0.746													2	4	---	---	---	---					
SPON1	10418	broad.mit.edu	37	11	14063263	14063263	+	RNA	DEL	A	A	-	rs113227652		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr11:14063263delA	ENST00000310358.7	+	0	1017							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GATTGCAGGGAAAAAAAAAAA	0.423													4	8	---	---	---	---					
ANKRD20A11P	0	broad.mit.edu	37	21	15343746	15343749	+	RNA	DEL	TCTG	TCTG	-			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr21:15343746_15343749delTCTG	ENST00000344693.5	-	0	736					NR_027270.1																						CTCTGTGCTTTCTGATGTGCTGCT	0.407													4	4	---	---	---	---