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
AFF2	2334	broad.mit.edu	37	X	148048408	148048408	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chrX:148048408T>C	ENST00000370460.2	+	14	3481	c.3002T>C	c.(3001-3003)aTt>aCt	p.I1001T	AFF2_ENST00000370457.5_Missense_Mutation_p.I966T|AFF2_ENST00000342251.3_Missense_Mutation_p.I968T|AFF2_ENST00000286437.5_Missense_Mutation_p.I642T	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1001					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)					gctactgccaTTGTcaccacc	0.532000													23	70					0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57224804	57224804	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr8:57224804G>A	ENST00000522671.1	-	3	1108	c.377C>T	c.(376-378)gCc>gTc	p.A126V	SDR16C5_ENST00000303749.3_Missense_Mutation_p.A126V|SDR16C5_ENST00000396721.2_Intron			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	126					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TACGATTCCGGCATTGTTGAT	0.373000													3	26					0	0	1	0	0
OSBPL8	114882	broad.mit.edu	37	12	76783456	76783456	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr12:76783456C>G	ENST00000261183.3	-	12	1800	c.1321G>C	c.(1321-1323)Gat>Cat	p.D441H	OSBPL8_ENST00000393250.4_Missense_Mutation_p.D399H|OSBPL8_ENST00000393249.2_Missense_Mutation_p.D399H	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	441					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TAGTAGTAATCTGAAAGTTTA	0.358000													10	76					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154091365	154091365	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chrX:154091365A>T	ENST00000360256.4	-	23	6767	c.6567T>A	c.(6565-6567)gaT>gaA	p.D2189E	F8_ENST00000330287.6_Missense_Mutation_p.D54E	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2189					acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TACTATTTAAATCACAGCCCA	0.453000													16	47					0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409292	56409292	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr11:56409292G>C	ENST00000544374.1	-	1	655	c.627C>G	c.(625-627)ttC>ttG	p.F209L	OR5AP2_ENST00000302981.1_Missense_Mutation_p.F208L			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						TAAAACTTGAGAATGCCATGA	0.448000													17	116					0	0	1	0	0
DDX41	51428	broad.mit.edu	37	5	176939803	176939803	+	Silent	SNP	G	G	A			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr5:176939803G>A	ENST00000507955.1	-	13	1900	c.1377C>T	c.(1375-1377)gcC>gcT	p.A459A		NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	459	Helicase C-terminal.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GGATGGCTACGGCCTCAACCC	0.577000													59	114					0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148769115	148769115	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr7:148769115C>T	ENST00000316286.9	-	3	763	c.491G>A	c.(490-492)cGc>cAc	p.R164H	ZNF786_ENST00000491431.1_Missense_Mutation_p.R250H|ZNF786_ENST00000451334.3_Missense_Mutation_p.R213H			Q8N393	ZN786_HUMAN	zinc finger protein 786	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CAGCTTCCGGCGGAAGCTCTT	0.642000													7	22					0	0	1	0	0
MAP7D3	79649	broad.mit.edu	37	X	135328280	135328280	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chrX:135328280T>C	ENST00000316077.9	-	3	417	c.197A>G	c.(196-198)gAc>gGc	p.D66G	MAP7D3_ENST00000370661.1_Missense_Mutation_p.D66G|MAP7D3_ENST00000370663.5_Missense_Mutation_p.D48G	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	66						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TTGTTTTATGTCATTTTTAAG	0.289000													11	42					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48057216	48057216	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr15:48057216G>A	ENST00000316364.5	+	13	1829	c.1390G>A	c.(1390-1392)Gta>Ata	p.V464I	SEMA6D_ENST00000558816.1_Missense_Mutation_p.V464I|SEMA6D_ENST00000536845.2_Missense_Mutation_p.V464I|SEMA6D_ENST00000354744.4_Missense_Mutation_p.V464I|SEMA6D_ENST00000358066.4_Missense_Mutation_p.V464I|SEMA6D_ENST00000389432.2_Missense_Mutation_p.V464I|SEMA6D_ENST00000389425.3_Missense_Mutation_p.V464I|SEMA6D_ENST00000537942.1_Missense_Mutation_p.V464I|SEMA6D_ENST00000389428.3_Missense_Mutation_p.V464I|SEMA6D_ENST00000389433.2_Missense_Mutation_p.V464I|SEMA6D_ENST00000355997.3_Missense_Mutation_p.V464I|SEMA6D_ENST00000558014.1_Missense_Mutation_p.V464I	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	464	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.V464I(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GAACGACAGCGTATTACTGGA	0.443000													9	30					0	0	1	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977358	29977358	+	RNA	SNP	T	T	C	rs146982767	by1000genomes	TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr6:29977358T>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA																							GATTTGTTCATGCCTTCCCTT	0.448000													7	34					0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	621793	621793	+	Silent	SNP	C	C	A			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr19:621793C>A	ENST00000588649.2	-	10	1989	c.1905G>T	c.(1903-1905)gcG>gcT	p.A635A		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	635					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GCGTGGGCTCCGCGGCCTTCT	0.682000													15	53					0.000566183	0.000604292	1	1	0
CADM1	23705	broad.mit.edu	37	11	115099960	115099960	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr11:115099960C>T	ENST00000452722.3	-	5	614	c.594G>A	c.(592-594)atG>atA	p.M198I	CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Missense_Mutation_p.M198I|CADM1_ENST00000536727.1_Missense_Mutation_p.M198I|CADM1_ENST00000331581.6_Missense_Mutation_p.M198I|CADM1_ENST00000542447.2_Missense_Mutation_p.M198I	NM_014333.3	NP_055148.3	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1		Ig-like C2-type 1.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TCACAGTGTACATGTCTGACC	0.522000													6	29					0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40114710	40114710	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr12:40114710G>C	ENST00000324616.5	+	13	1770	c.1616G>C	c.(1615-1617)aGg>aCg	p.R539T		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	539										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TCAGGTGACAGGATTGTTAAA	0.323000													7	45					0	0	1	0	0
ADA	100	broad.mit.edu	37	20	43251684	43251684	+	Silent	SNP	G	G	A			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr20:43251684G>A	ENST00000372874.4	-	7	776	c.642C>T	c.(640-642)caC>caT	p.H214H	ADA_ENST00000537820.1_Intron|ADA_ENST00000464097.1_5'UTR|PKIG_ENST00000372887.1_Intron|PKIG_ENST00000372882.3_Intron	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	214					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CCTCCCCGGCGTGGACAGTAC	0.652000									Adenosine Deaminase Deficiency				10	70					0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50121576	50121576	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr10:50121576C>A	ENST00000374160.3	-	1	701	c.625G>T	c.(625-627)Gct>Tct	p.A209S	RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.A209S	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	209						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CTCAGGCAAGCCGCACACAGA	0.502000													12	49					4.3838e-07	5.06877e-07	1	1	0
UBR4	23352	broad.mit.edu	37	1	19439171	19439171	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr1:19439171C>T	ENST00000375267.2	-	78	11651	c.11648G>A	c.(11647-11649)tGt>tAt	p.C3883Y	UBR4_ENST00000375254.3_Missense_Mutation_p.C3883Y|UBR4_ENST00000375217.2_Missense_Mutation_p.C3876Y|UBR4_ENST00000375226.2_Missense_Mutation_p.C3859Y|UBR4_ENST00000375218.3_3'UTR			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3883					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TAGTGTGATACAATGTTCTGT	0.567000													23	107					0	0	1	0	0
CD99	4267	broad.mit.edu	37	X	2609969	2609969	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chrX:2609969T>G	ENST00000381180.3	+	2	208	c.208T>G	c.(208-210)Tta>Gta	p.L70V	CD99_ENST00000381184.1_Intron|CD99_ENST00000482405.2_Intron|CD99_ENST00000381192.3_Intron|CD99_ENST00000381187.3_Intron			P14209	CD99_HUMAN	CD99 molecule	0					cell adhesion	cytoplasm|integral to plasma membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						GAAGGAAAAGTTAGAAAAAAA	0.567000													7	17					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	325718	325718	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr9:325718A>G	ENST00000432829.2	+	8	987	c.671A>G	c.(670-672)gAt>gGt	p.D224G	DOCK8_ENST00000453981.1_Missense_Mutation_p.D292G|DOCK8_ENST00000469391.1_Missense_Mutation_p.D224G	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	292					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GCCCTCTACGATGTTAAAGAA	0.348000													45	48					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73065233	73065233	+	RNA	SNP	C	C	T			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chrX:73065233C>T	ENST00000429829.1	-	0	7355					NR_001564.2																						TGCAGTTATGCACATTCATGT	0.502000													26	86					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37881332	37881332	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr17:37881332G>A	ENST00000406381.2	+	23	2944	c.2434G>A	c.(2434-2436)Gta>Ata	p.V812I	ERBB2_ENST00000445658.2_Missense_Mutation_p.V566I|ERBB2_ENST00000584450.1_Missense_Mutation_p.V842I|ERBB2_ENST00000540147.1_Missense_Mutation_p.V812I|ERBB2_ENST00000584601.1_Missense_Mutation_p.V812I|ERBB2_ENST00000269571.5_Missense_Mutation_p.V842I|ERBB2_ENST00000541774.1_Missense_Mutation_p.V827I	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	842	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V842I(6)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TGTGCGGCTCGTACACAGGGA	0.597000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			9	59					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18022407	18022407	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr17:18022407C>T	ENST00000205890.5	+	2	631	c.293C>T	c.(292-294)gCg>gTg	p.A98V		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	98	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AAGAAGCGGGCGATGAAGGGC	0.657000													3	6					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16962055	16962055	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr10:16962055G>A	ENST00000377833.4	-	44	6793	c.6728C>T	c.(6727-6729)cCg>cTg	p.P2243L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2243	CUB 16.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATCAGCGTGCGGGGGATAATT	0.493000													6	28					0	0	1	0	0
RUSC1	23623	broad.mit.edu	37	1	155291600	155291600	+	Silent	SNP	C	C	T			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr1:155291600C>T	ENST00000368352.5	+	2	187	c.36C>T	c.(34-36)ctC>ctT	p.L12L	RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368354.3_Silent_p.L12L	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	12						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TCTGCAACCTCAACCACATCC	0.592000													8	110					0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55715127	55715127	+	Silent	SNP	C	C	T			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr12:55715127C>T	ENST00000379668.2	+	1	782	c.744C>T	c.(742-744)atC>atT	p.I248I		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TTGTCTCCATCTCTTATGGCA	0.418000													18	53					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171605630	171605630	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr1:171605630A>G	ENST00000037502.6	-	3	1021	c.950T>C	c.(949-951)aTa>aCa	p.I317T		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response		Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CCTAGGCAGTATGTGAACCTT	0.522000													13	72					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3672227	3672227	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr20:3672227G>A	ENST00000344754.4	-	17	4350	c.4351C>T	c.(4351-4353)Cct>Tct	p.P1451S	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P1451S	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1451	Ig-like C2-type 15.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TCCAGGCCAGGCTCTGCCACC	0.667000													4	46					0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42311461	42311461	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr20:42311461A>G	ENST00000217026.4	+	4	341	c.214A>G	c.(214-216)Agg>Ggg	p.R72G	MYBL2_ENST00000396863.4_Missense_Mutation_p.R48G	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	72	HTH myb-type 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ATGCCAGTACAGGTGGCTGAG	0.517000													40	210					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25415809	25415809	+	RNA	SNP	C	C	T	rs2739838	by1000genomes	TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr15:25415809C>T	ENST00000553149.1	+	0	286																											CTGCACTGAGCTGTGGTGAGC	0.622000													5	84					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49445644	49445644	+	Silent	SNP	G	G	A			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr12:49445644G>A	ENST00000301067.7	-	10	1821	c.1822C>T	c.(1822-1824)Ctg>Ttg	p.L608L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGAGGGGACAGAGGAGACTCT	0.602000													10	60					0	0	1	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709889	128709889	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr11:128709889C>A	ENST00000392665.2	-	2	394	c.250G>T	c.(250-252)Gcg>Tcg	p.A84S	KCNJ1_ENST00000392666.1_Missense_Mutation_p.A84S|KCNJ1_ENST00000392664.2_Missense_Mutation_p.A103S|KCNJ1_ENST00000324036.3_Missense_Mutation_p.A84S|KCNJ1_ENST00000440599.2_Missense_Mutation_p.A84S	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	103					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	TGAATGTACGCTACTGCATAC	0.448000													12	36					5.50884e-06	6.11481e-06	1	1	0
PLA2G4C	8605	broad.mit.edu	37	19	48551636	48551636	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr19:48551636G>T	ENST00000599111.1	-	17	1921	c.1620C>A	c.(1618-1620)taC>taA	p.Y540*	PLA2G4C_ENST00000354276.3_3'UTR|PLA2G4C_ENST00000599921.1_Nonsense_Mutation_p.Y530*|PLA2G4C_ENST00000413144.2_Nonsense_Mutation_p.Y530*	NM_001159322.1|NM_003706.2	NP_001152794.1|NP_003697.2	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	530	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TATCCTTCGGGTAGTAGAGCC	0.527000													5	14					0.00198382	0.00209718	1	1	0
SP140	11262	broad.mit.edu	37	2	231090589	231090589	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr2:231090589G>A	ENST00000392045.3	+	1	144	c.30G>A	c.(28-30)atG>atA	p.M10I	SP140_ENST00000343805.6_Missense_Mutation_p.M10I|SP140_ENST00000373645.3_Missense_Mutation_p.M10I|SP140_ENST00000350136.5_5'UTR|SP140_ENST00000417495.3_Missense_Mutation_p.M10I|SP140_ENST00000420434.3_Missense_Mutation_p.M10I|SP140_ENST00000486687.2_Missense_Mutation_p.M10I	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	10					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGGGGCAGATGGCAAGTGGAG	0.532000													10	26					0	0	1	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977359	29977359	+	RNA	SNP	G	G	A	rs3831361	by1000genomes	TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr6:29977359G>A	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA																							ATTTGTTCATGCCTTCCCTTT	0.453000													7	33					0	0	1	0	0
IFNA8	3445	broad.mit.edu	37	9	21409674	21409674	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr9:21409674G>T	ENST00000380205.1	+	1	529	c.499G>T	c.(499-501)Gtc>Ttc	p.V167F		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	167					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		CTGGGAGGTTGTCAGAGCAGA	0.413000													5	83					3.59834e-05	3.95461e-05	1	1	0
GRM6	2916	broad.mit.edu	37	5	178413884	178413884	+	Silent	SNP	G	G	A	rs149519053	byFrequency	TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr5:178413884G>A	ENST00000231188.5	-	7	1633	c.1455C>T	c.(1453-1455)ggC>ggT	p.G485G	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Silent_p.G485G	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	485					detection of visible light|visual perception	integral to plasma membrane		p.G485G(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CCTGGTACCCGCCACTGCTGG	0.647000													20	12					0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200137210	200137210	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr2:200137210C>A	ENST00000443023.1	-	10	3214	c.1749G>T	c.(1747-1749)caG>caT	p.Q583H	SATB2_ENST00000457245.1_Missense_Mutation_p.Q642H|SATB2_ENST00000417098.1_Missense_Mutation_p.Q642H|SATB2_ENST00000260926.5_Missense_Mutation_p.Q642H|SATB2_ENST00000428695.1_Missense_Mutation_p.Q524H			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	642						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGATGGCTTCCTGGTCTGGGT	0.532000													10	41					1.76689e-08	2.06448e-08	1	1	0
PCDHGA10	56106	broad.mit.edu	37	5	140794390	140794390	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr5:140794390G>A	ENST00000398610.2	+	1	1648	c.1648G>A	c.(1648-1650)Gtg>Atg	p.V550M	PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCAGCAACGTGTCGTTGAG	0.597000													81	130					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25978974	25978974	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr2:25978974C>G	ENST00000435504.4	-	10	1242	c.949G>C	c.(949-951)Gat>Cat	p.D317H	ASXL2_ENST00000272341.4_Missense_Mutation_p.D57H|ASXL2_ENST00000336112.4_Missense_Mutation_p.D289H|ASXL2_ENST00000404843.1_Missense_Mutation_p.D57H			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTAAACCATCTGGACCAACC	0.403000													4	45					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104714099	104714099	+	Translation_Start_Site	SNP	A	A	T			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr7:104714099A>T	ENST00000334914.7	+	0	1065				KMT2E_ENST00000257745.4_Missense_Mutation_p.Q177H|KMT2E_ENST00000334877.4_Missense_Mutation_p.Q177H|KMT2E_ENST00000476671.1_Missense_Mutation_p.Q177H|KMT2E_ENST00000311117.3_Missense_Mutation_p.Q177H					lysine (K)-specific methyltransferase 2E																		TGCTACTACAACGCCGGAAAA	0.323000													3	22					0	0	1	0	0
RUSC1	23623	broad.mit.edu	37	1	155292044	155292044	+	Silent	SNP	C	C	T			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr1:155292044C>T	ENST00000368352.5	+	2	631	c.480C>T	c.(478-480)ttC>ttT	p.F160F	RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368354.3_Silent_p.F160F	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	160						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CGGACAGCTTCTGCTGCTCTC	0.637000													15	60					0	0	1	0	0
NFKB2	4791	broad.mit.edu	37	10	104157342	104157342	+	Silent	SNP	G	G	C			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr10:104157342G>C	ENST00000369966.3	+	8	811	c.561G>C	c.(559-561)ctG>ctC	p.L187L	NFKB2_ENST00000189444.6_Silent_p.L187L|NFKB2_ENST00000428099.1_Silent_p.L187L	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	187	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		TGATGGATCTGAGTATAGTGC	0.587000			T	IGH@	B-NHL								32	114					0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117503945	117503945	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr1:117503945G>T	ENST00000393203.2	+	5	1441	c.1294G>T	c.(1294-1296)Gtg>Ttg	p.V432L		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	432	Ig-like C2-type 4.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		ATGCCGGGTGGTGGACACGAA	0.582000													22	67					5.35356e-11	6.32175e-11	1	1	0
COBL	23242	broad.mit.edu	37	7	51092857	51092857	+	Silent	SNP	T	T	C			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr7:51092857T>C	ENST00000395542.2	-	14	4147	c.3963A>G	c.(3961-3963)caA>caG	p.Q1321Q	COBL_ENST00000265136.7_Silent_p.Q1239Q			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1239										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CCATCAAGGCTTGCCTTGCGT	0.642000													7	142					0	0	1	0	0
PDCD7	10081	broad.mit.edu	37	15	65411074	65411074	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr15:65411074G>A	ENST00000204549.4	-	5	1493	c.1439C>T	c.(1438-1440)aCt>aTt	p.T480I		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	480					apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						CTTAACAGCAGTTGCCCAGAT	0.527000													8	38					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53077746	53077746	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr8:53077746G>A	ENST00000276480.7	-	12	1927	c.1244C>T	c.(1243-1245)cCg>cTg	p.P415L		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	415						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGTGCATCCCGGCGTGGGACA	0.403000													23	103					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123140664	123140664	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr4:123140664G>A	ENST00000264501.4	+	21	2790	c.2417G>A	c.(2416-2418)cGt>cAt	p.R806H	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.R806H|KIAA1109_ENST00000388738.3_Missense_Mutation_p.R806H			Q2LD37	K1109_HUMAN	KIAA1109	806					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.R806L(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTTGCCTTGCGTCCTTGGGAT	0.398000													9	49					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216052315	216052315	+	Silent	SNP	C	C	T			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr1:216052315C>T	ENST00000366943.2	-	42	8735	c.8349G>A	c.(8347-8349)ctG>ctA	p.L2783L	USH2A_ENST00000307340.3_Silent_p.L2783L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2783	Fibronectin type-III 14.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGAAAGGAATCAGATGAGTAA	0.433000										HNSCC(13;0.011)			33	66					0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4432066	4432066	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr19:4432066G>T	ENST00000301280.5	+	12	2166	c.2065G>T	c.(2065-2067)Gtg>Ttg	p.V689L	CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	689	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GATCGGCTGCGTGTGGGCGGC	0.617000								Chromatin Structure					19	72					0.000175454	0.000189082	1	1	0
PROL1	58503	broad.mit.edu	37	4	71275637	71275637	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr4:71275637G>A	ENST00000399575.2	+	3	766	c.592G>A	c.(592-594)Gca>Aca	p.A198T		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	198	Thr-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				AGCAACCCCCGCAGCATCTAC	0.478000													15	64					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13830162	13830162	+	Silent	SNP	G	G	A			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr5:13830162G>A	ENST00000265104.4	-	37	6326	c.6222C>T	c.(6220-6222)aaC>aaT	p.N2074N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2074	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAAATTCAGGGTTCATAGTCA	0.383000									Kartagener syndrome				8	31					0	0	1	0	0
HIST1H2AD	3013	broad.mit.edu	37	6	26199198	26199198	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr6:26199198C>G	ENST00000341023.1	-	1	273	c.274G>C	c.(274-276)Gag>Cag	p.E92Q	HIST1H3D_ENST00000377831.5_5'UTR	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	92					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				TTTAGCTCCTCGTCGTTGCGG	0.602000													30	86					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25978935	25978935	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr2:25978935C>T	ENST00000435504.4	-	10	1281	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	ASXL2_ENST00000272341.4_Missense_Mutation_p.E70K|ASXL2_ENST00000336112.4_Missense_Mutation_p.E302K|ASXL2_ENST00000404843.1_Missense_Mutation_p.E70K			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	p.E70Q(1)|p.E330Q(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGAAGAATTCATTGTTAAGG	0.448000													5	53					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50168644	50168644	+	Missense_Mutation	SNP	C	C	T	rs139968118	byFrequency	TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr15:50168644C>T	ENST00000284509.6	-	25	2999	c.2858G>A	c.(2857-2859)cGt>cAt	p.R953H	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R953H	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	953					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R953H(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GAAAAATTTACGCTTGTTAAA	0.448000													8	35					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18976405	18976405	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr19:18976405G>A	ENST00000262803.5	+	22	3327	c.3055G>A	c.(3055-3057)Gga>Aga	p.G1019R	UPF1_ENST00000599848.1_Missense_Mutation_p.G1030R	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	1030					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TGGTCGTGGGGGACGCCAGAA	0.627000													22	95					0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48647149	48647149	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr19:48647149G>A	ENST00000263274.7	-	10	1267	c.848C>T	c.(847-849)cCg>cTg	p.P283L	LIG1_ENST00000427526.2_Missense_Mutation_p.P252L|LIG1_ENST00000536218.1_Missense_Mutation_p.P215L	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	283					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CTTCTGGCCCGGTTTCCAGCA	0.537000								Nucleotide excision repair (NER)					13	54					0	0	1	0	0
XXYLT1	152002	broad.mit.edu	37	3	194991370	194991370	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr3:194991370G>C	ENST00000310380.6	-	1	526	c.418C>G	c.(418-420)Cac>Gac	p.H140D		NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN	xyloside xylosyltransferase 1	140						integral to membrane	transferase activity, transferring glycosyl groups										CTCACGAAGTGAAGGTTAAGC	0.706000													9	12					0	0	1	0	0
RRP8	23378	broad.mit.edu	37	11	6623361	6623361	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr11:6623361T>C	ENST00000254605.6	-	2	301	c.184A>G	c.(184-186)Agt>Ggt	p.S62G	RRP8_ENST00000534343.1_Intron	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	62					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						TCAGAGTCACTTATACATAGG	0.542000													15	48					0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66083067	66083067	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr11:66083067G>C	ENST00000311330.3	-	1	1448	c.1432C>G	c.(1432-1434)Cgt>Ggt	p.R478G	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	478	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	TGGTGGTCACGGGACAAAGCT	0.607000													20	77					0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33493188	33493188	+	Missense_Mutation	SNP	T	T	C	rs141887475	by1000genomes	TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr19:33493188T>C	ENST00000254260.3	-	9	1105	c.1070A>G	c.(1069-1071)cAc>cGc	p.H357R	RHPN2_ENST00000400226.4_Missense_Mutation_p.H206R	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	357	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding	p.H357L(2)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					AGTGAAGTAGTGGGCCAGGGC	0.647000													7	38					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115350589	115350589	+	Silent	SNP	G	G	A	rs141148527		TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr10:115350589G>A	ENST00000369358.4	-	40	4972	c.4728C>T	c.(4726-4728)gtC>gtT	p.V1576V	NRAP_ENST00000359988.3_Silent_p.V1568V|NRAP_ENST00000369360.3_Silent_p.V1541V|NRAP_ENST00000360478.3_Silent_p.V1533V			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1568						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GGTCATCGTCGACACTGCGGT	0.552000													9	63					0	0	1	0	0
CDK14	5218	broad.mit.edu	37	7	90708780	90708780	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr7:90708780G>C	ENST00000406263.1	+	11	1443	c.1001G>C	c.(1000-1002)aGa>aCa	p.R334T	CDK14_ENST00000380050.3_Missense_Mutation_p.R380T|CDK14_ENST00000436577.2_Missense_Mutation_p.R251T|CDK14_ENST00000265741.3_Missense_Mutation_p.R362T			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	380	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						AAAAACCTTAGACAAGCATGG	0.289000													4	12					0	0	1	0	0
DDN	23109	broad.mit.edu	37	12	49391296	49391296	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr12:49391296T>C	ENST00000421952.2	-	2	1384	c.1363A>G	c.(1363-1365)Att>Gtt	p.I455V		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	455	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GTGGCGTCAATGACAAAGACG	0.647000													9	71					0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88945324	88945324	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr14:88945324C>A	ENST00000556564.1	-	13	2735	c.2451G>T	c.(2449-2451)agG>agT	p.R817S	PTPN21_ENST00000328736.3_Missense_Mutation_p.R817S	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	817						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCGACACCGGCCTTTTCTTCA	0.667000													13	66					5.50884e-06	6.11481e-06	1	1	0
GALR1	2587	broad.mit.edu	37	18	74963166	74963166	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr18:74963166C>T	ENST00000299727.3	+	1	662	c.662C>T	c.(661-663)gCc>gTc	p.A221V		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	221					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TTCTGCTATGCCAAGGTGCAC	0.706000													13	73					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135781127	135781127	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr9:135781127G>A	ENST00000298552.3	-	15	2059	c.1838C>T	c.(1837-1839)cCa>cTa	p.P613L	TSC1_ENST00000440111.2_Missense_Mutation_p.P613L|TSC1_ENST00000545250.1_Missense_Mutation_p.P562L	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	613					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GGCTGTCTTTGGCAATGCCAC	0.498000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				10	25					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098806	178098806	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr2:178098806G>A	ENST00000397062.3	-	2	793	c.239C>T	c.(238-240)aCa>aTa	p.T80I	NFE2L2_ENST00000423513.1_Missense_Mutation_p.T64I|NFE2L2_ENST00000446151.2_Missense_Mutation_p.T64I|NFE2L2_ENST00000464747.1_Missense_Mutation_p.T64I|NFE2L2_ENST00000397063.4_Missense_Mutation_p.T64I	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	80					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T80K(3)|p.T80R(2)|p.T80I(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAATTCACCTGTCTCTTCATC	0.443000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			8	20					0	0	1	0	0
WASF3	10810	broad.mit.edu	37	13	27257047	27257047	+	Silent	SNP	G	G	A	rs146991188	byFrequency	TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr13:27257047G>A	ENST00000361042.4	+	9	1503	c.1278G>A	c.(1276-1278)cgG>cgA	p.R426R	WASF3_ENST00000335327.5_Silent_p.R429R			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	429					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		AGGCGAAGCGGCAAGAGCCTG	0.642000													7	116					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154574846	154574846	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr1:154574846C>T	ENST00000368474.4	-	2	471	c.272G>A	c.(271-273)aGg>aAg	p.R91K	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.R134K	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	91					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GGGGACACCCCTGATGTCCAC	0.597000													13	64					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10309470	10309470	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr17:10309470C>A	ENST00000403437.2	-	21	2414	c.2320G>T	c.(2320-2322)Ggt>Tgt	p.G774C	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	774	Actin-binding.|Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCCAGAAGACCCAGAAGTCCA	0.413000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				5	12					0.184627	0.189756	1	1	0
ITGBL1	9358	broad.mit.edu	37	13	102220117	102220117	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr13:102220117C>A	ENST00000376180.3	+	3	603	c.384C>A	c.(382-384)taC>taA	p.Y128*	ITGBL1_ENST00000545560.2_5'UTR|ITGBL1_ENST00000376162.3_Nonsense_Mutation_p.Y35*	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	128	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTGCCAGTACCCAACTAACT	0.443000													10	41					3.86212e-05	4.20289e-05	1	1	0
CBLN2	147381	broad.mit.edu	37	18	70205571	70205571	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr18:70205571G>C	ENST00000269503.4	-	5	1288	c.515C>G	c.(514-516)gCc>gGc	p.A172G	CBLN2_ENST00000585159.1_Missense_Mutation_p.A172G|CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000581073.1_Missense_Mutation_p.A58G|CBLN2_ENST00000584764.1_Missense_Mutation_p.A56G	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	172	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				TCCTGCAAAGGCCGAGATCAC	0.502000													11	57					0	0	1	0	0
DLG3	1741	broad.mit.edu	37	X	69715265	69715265	+	Missense_Mutation	SNP	C	C	A	rs144335681	byFrequency	TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chrX:69715265C>A	ENST00000194900.4	+	14	2176	c.1835C>A	c.(1834-1836)cCg>cAg	p.P612Q	DLG3_ENST00000542398.1_Intron|DLG3_ENST00000374360.3_Missense_Mutation_p.P594Q|DLG3_ENST00000374355.3_Intron			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	594					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					CAGGACTTCCCGGGGTTAAGT	0.532000													11	46					3.07112e-06	3.47851e-06	1	1	0
NF2	4771	broad.mit.edu	37	22	30038263	30038263	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr22:30038263G>T	ENST00000338641.4	+	4	877	c.436G>T	c.(436-438)Gtc>Ttc	p.V146F	NF2_ENST00000361166.4_Missense_Mutation_p.V146F|NF2_ENST00000413209.2_Missense_Mutation_p.V146F|NF2_ENST00000397789.3_Missense_Mutation_p.V146F|NF2_ENST00000353887.4_Missense_Mutation_p.V63F|NF2_ENST00000361676.4_Missense_Mutation_p.V104F|NF2_ENST00000334961.7_Missense_Mutation_p.V63F|NF2_ENST00000347330.5_Missense_Mutation_p.V63F|NF2_ENST00000403435.1_Missense_Mutation_p.V146F|NF2_ENST00000361452.4_Missense_Mutation_p.V105F|NF2_ENST00000403999.3_Missense_Mutation_p.V146F	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	146	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.V122_K149del(5)|p.?(2)|p.Y144fs*5(1)|p.V146I(1)|p.K123fs*2(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TTCTTACGCCGTCCAGGCCAA	0.448000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				3	16					1	1	1	1	0
STARD3	10948	broad.mit.edu	37	17	37819241	37819241	+	Missense_Mutation	SNP	A	A	G	rs2934961	by1000genomes	TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr17:37819241A>G	ENST00000580611.1	+	14	1493	c.1363A>G	c.(1363-1365)Act>Gct	p.T455A	STARD3_ENST00000544210.2_3'UTR|STARD3_ENST00000394250.4_3'UTR|STARD3_ENST00000336308.5_3'UTR			Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	0					cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TTGGGCTCGCACTGCCCACAT	0.687000													3	14					0	0	1	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417295	150417295	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr7:150417295C>T	ENST00000307194.5	+	3	343	c.203C>T	c.(202-204)aCg>aTg	p.T68M		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCTGCACCACGGGCAGCCGC	0.627000													9	47					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135453499	135453499	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chrX:135453499A>G	ENST00000394143.1	+	14	7700	c.7409A>G	c.(7408-7410)gAt>gGt	p.D2470G	GPR112_ENST00000394141.1_Missense_Mutation_p.D2265G|GPR112_ENST00000287534.4_Missense_Mutation_p.D2268G|GPR112_ENST00000412101.1_Missense_Mutation_p.D2265G|GPR112_ENST00000370652.1_Missense_Mutation_p.D2470G	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2470					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AATGCTGAGGATGTTGCAGAG	0.368000													3	6					0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56528164	56528164	+	Silent	SNP	G	G	A	rs79645834	byFrequency	TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr12:56528164G>A	ENST00000394048.5	+	15	1848	c.1584G>A	c.(1582-1584)gcG>gcA	p.A528A	ESYT1_ENST00000267113.4_Silent_p.A538A|ESYT1_ENST00000541590.1_Silent_p.A538A	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	528	C2 2.					integral to membrane		p.A528A(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GGGAGGAAGCGTTCCGGTTCT	0.507000													6	117					0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71235927	71235927	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr6:71235927G>T	ENST00000418814.2	+	15	3754	c.3140G>T	c.(3139-3141)aGc>aTc	p.S1047I	FAM135A_ENST00000505868.1_Missense_Mutation_p.S1047I|FAM135A_ENST00000370479.3_Missense_Mutation_p.S834I|FAM135A_ENST00000505769.1_Missense_Mutation_p.S627I|FAM135A_ENST00000361499.3_Missense_Mutation_p.S851I|FAM135A_ENST00000457062.2_Missense_Mutation_p.S834I	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1047										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GGTTCTCAAAGCAGTACGGAT	0.388000													5	36					1	1	1	1	0
ASXL2	55252	broad.mit.edu	37	2	25972936	25972936	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr2:25972936C>T	ENST00000435504.4	-	12	1782	c.1489G>A	c.(1489-1491)Gct>Act	p.A497T	ASXL2_ENST00000272341.4_Missense_Mutation_p.A237T|ASXL2_ENST00000336112.4_Missense_Mutation_p.A469T|ASXL2_ENST00000404843.1_Missense_Mutation_p.A237T			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTGTTCAGCAGAGGTGACT	0.453000													7	98					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117827169	117827169	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr9:117827169C>T	ENST00000350763.4	-	11	3655	c.3244G>A	c.(3244-3246)Gtg>Atg	p.V1082M	TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.V1082M|TNC_ENST00000542877.1_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.V1082M|TNC_ENST00000340094.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1082	Fibronectin type-III 6.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACCTCAGTCACGGTGAGGTTT	0.507000													11	33					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14549069	14549069	+	RNA	SNP	G	G	A			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr3:14549069G>A	ENST00000273083.3	-	0	2282							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CGAATCTCACGGTCTAGTTGC	0.592000													6	26					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145147383	145147383	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr2:145147383C>T	ENST00000558170.2	-	10	4464	c.3280G>A	c.(3280-3282)Gag>Aag	p.E1094K	ZEB2_ENST00000539609.3_Missense_Mutation_p.E1070K|ZEB2_ENST00000303660.4_Missense_Mutation_p.E1094K|ZEB2_ENST00000409487.3_Missense_Mutation_p.E1094K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1094	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.E1094K(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCGCGCGCCTCGCGCTCCGCC	0.617000													12	65					0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3779710	3779710	+	Silent	SNP	C	C	T			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr19:3779710C>T	ENST00000310132.6	-	9	1226	c.828G>A	c.(826-828)gaG>gaA	p.E276E	MATK_ENST00000395040.2_Silent_p.E235E|MATK_ENST00000395045.2_Silent_p.E277E|MATK_ENST00000585778.1_Silent_p.E276E	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	276	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TGACGGCCGTCTCGTCCAGGA	0.672000													8	54					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101581175	101581175	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr12:101581175C>T	ENST00000536262.2	-	7	1510	c.952G>A	c.(952-954)Gca>Aca	p.A318T		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	318					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGGTCTGGTGCAGACACTTTC	0.433000													5	19					0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27219022	27219022	+	Silent	SNP	C	C	A			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr6:27219022C>A	ENST00000230582.3	+	7	711	c.696C>A	c.(694-696)acC>acA	p.T232T	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	232					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TAATGAGCACCGCGATCGGCG	0.667000													10	46					2.48551e-13	2.96657e-13	1	1	0
MAGEB1	4112	broad.mit.edu	37	X	30269207	30269207	+	Silent	SNP	G	G	T			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chrX:30269207G>T	ENST00000378981.3	+	4	918	c.597G>T	c.(595-597)ggG>ggT	p.G199G	MAGEB1_ENST00000397548.2_Silent_p.G199G|MAGEB1_ENST00000397550.1_Silent_p.G199G	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	199	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CCAGGAATGGGCTTCTGATGC	0.498000													3	13					0.004672	0.00489238	1	1	0
PCDHB18P	54660	broad.mit.edu	37	5	140615861	140615861	+	RNA	SNP	G	G	A	rs6871453	by1000genomes	TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr5:140615861G>A	ENST00000526308.1	+	0	1924					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GGTACCTCGGGCGGCCGAGCC	0.701000													7	150					0	0	1	0	0
FMO4	2329	broad.mit.edu	37	1	171303598	171303598	+	Silent	SNP	C	C	A			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr1:171303598C>A	ENST00000367749.3	+	8	1206	c.876C>A	c.(874-876)ctC>ctA	p.L292L		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	292					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ACTGTATCCTCTGTGGGGCAA	0.368000													3	20					1	1	1	1	0
MAST2	23139	broad.mit.edu	37	1	46501254	46501254	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr1:46501254C>A	ENST00000361297.2	+	29	5196	c.4913C>A	c.(4912-4914)aCc>aAc	p.T1638N	MAST2_ENST00000372009.2_Missense_Mutation_p.T1448N	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	1638					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TCGGGACTCACCCCCACCAGC	0.607000													15	75					1.3612e-06	1.55767e-06	1	1	0
CEP128	145508	broad.mit.edu	37	14	81304579	81304579	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr14:81304579G>A	ENST00000555265.1	-	11	1268	c.893C>T	c.(892-894)tCa>tTa	p.S298L	CEP128_ENST00000281129.3_Missense_Mutation_p.S298L|CEP128_ENST00000216517.6_Missense_Mutation_p.S298L			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	298						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GCTGCCTTCTGATTGATTCAA	0.338000													4	22					0	0	1	0	0
FOSL2	2355	broad.mit.edu	37	2	28634949	28634950	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr2:28634949_28634950insC	ENST00000264716.4	+	4	1478_1479	c.615_616insC	c.(616-618)ctgfs	p.L206fs	FOSL2_ENST00000545753.1_Frame_Shift_Ins_p.L167fs|FOSL2_ENST00000379619.1_Frame_Shift_Ins_p.L198fs	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	206					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L206M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CAGCCCCTGGGCTGCAGCCCAT	0.663													15	75	---	---	---	---					
ANKZF1	55139	broad.mit.edu	37	2	220100530	220100535	+	In_Frame_Del	DEL	AGCAGG	AGCAGG	-			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr2:220100530_220100535delAGCAGG	ENST00000323348.5	+	12	2078_2083	c.1904_1909delAGCAGG	c.(1903-1911)cagcaggag>cag	p.QE638del	ANKZF1_ENST00000410034.3_In_Frame_Del_p.QE638del|ANKZF1_ENST00000409849.1_In_Frame_Del_p.QE428del	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	638						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCAGAGGCAGCAGGAGCAGGAGGA	0.617													8	128	---	---	---	---					
HES1	3280	broad.mit.edu	37	3	193855884	193855885	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr3:193855884_193855885insGG	ENST00000232424.3	+	4	941_942	c.705_706insGG	c.(706-708)gggfs	p.G236fs		NM_005524.3	NP_005515.1	Q14469	HES1_HUMAN	hes family bHLH transcription factor 1	236	Pro-rich.				endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		TCATTCCCAACGGGGCCTTCGC	0.658													7	19	---	---	---	---					
PCM1	5108	broad.mit.edu	37	8	17819560	17819561	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr8:17819560_17819561delGG	ENST00000325083.8	+	16	2779_2780	c.2340_2341delGG	c.(2338-2343)gtgggtfs	p.G781fs	PCM1_ENST00000519253.1_Frame_Shift_Del_p.G781fs|PCM1_ENST00000524226.1_Frame_Shift_Del_p.G782fs	NM_006197.3	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	781					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		CTGCTAGTGTGGGTAACTGTCC	0.356			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								2	4	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49445636	49445637	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr12:49445636_49445637insG	ENST00000301067.7	-	10	1828_1829	c.1829_1830insC	c.(1828-1830)cctfs	p.P610fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCTCAGGTGGAGGGGACAGAGG	0.594													10	72	---	---	---	---					
BCL11B	64919	broad.mit.edu	37	14	99641544	99641546	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr14:99641544_99641546delCTC	ENST00000345514.2	-	3	1680_1682	c.1414_1416delGAG	c.(1414-1416)gagdel	p.E472del	BCL11B_ENST00000443726.2_In_Frame_Del_p.E349del|BCL11B_ENST00000357195.3_In_Frame_Del_p.E543del	NM_001282238.1|NM_022898.1	NP_001269167.1|NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	543						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCAGTAGCAGctcctcctcctcc	0.700			T	TLX3	T-ALL								3	3	---	---	---	---					
TOX3	27324	broad.mit.edu	37	16	52473513	52473515	+	In_Frame_Del	DEL	TGC	TGC	-	rs71819850		TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr16:52473513_52473515delTGC	ENST00000219746.9	-	7	1637_1639	c.1353_1355delGCA	c.(1351-1356)cagcaa>caa	p.451_452QQ>Q	TOX3_ENST00000407228.3_In_Frame_Del_p.446_447QQ>Q	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	451	Gln-rich.				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						ctgttgttgttgctgctgctgct	0.552													8	7	---	---	---	---					
NDUFV2	4729	broad.mit.edu	37	18	9134187	9134188	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr18:9134187_9134188insG	ENST00000400033.1	+	9	786_787	c.669_670insG	c.(670-672)ggafs	p.G224fs	NDUFV2_ENST00000465096.1_3'UTR|RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000318388.6_Frame_Shift_Ins_p.G221fs|RP11-21J18.1_ENST00000579126.1_RNA			P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	221					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|lung(4)|ovary(1)|stomach(1)	7					NADH(DB00157)	ATTTCAGGAGTGGACGCTTCTC	0.366													10	26	---	---	---	---					
KRTAP12-1	353332	broad.mit.edu	37	21	46101888	46101888	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chr21:46101888delG	ENST00000391617.1	-	1	190	c.151delC	c.(151-153)cagfs	p.Q51fs	TSPEAR_ENST00000323084.4_Intron	NM_181686.1	NP_859014.1	P59990	KR121_HUMAN	keratin associated protein 12-1	51	14 X 5 AA approximate repeats.					keratin filament				kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						ACAGAGGACTGGCATCTCACG	0.667													31	112	---	---	---	---					
NRK	203447	broad.mit.edu	37	X	105152792	105152792	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A5BU-01A-31D-A26M-08	TCGA-FD-A5BU-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74238190-5b0d-4d4b-ab2c-3d7a7353e830	c9877a51-7fff-4e26-8432-3a26dc61212e	g.chrX:105152792delG	ENST00000428173.2	+	13	1465	c.1162delG	c.(1162-1164)gggfs	p.G388fs	NRK_ENST00000243300.9_Frame_Shift_Del_p.G387fs			Q7Z2Y5	NRK_HUMAN	Nik related kinase	387							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AGTCCTGCATGGGGAACCCTC	0.532										HNSCC(51;0.14)			14	57	---	---	---	---