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
PCDH15	65217	broad.mit.edu	37	10	55912915	55912915	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:55912915G>A	ENST00000373965.2	-	15	2144	c.1750C>T	c.(1750-1752)Cgg>Tgg	p.R584W	PCDH15_ENST00000361849.3_Missense_Mutation_p.R577W|PCDH15_ENST00000395438.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395446.1_Missense_Mutation_p.R577W|PCDH15_ENST00000437009.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.R577W|PCDH15_ENST00000414778.1_Missense_Mutation_p.R582W|PCDH15_ENST00000373957.3_Missense_Mutation_p.R555W|PCDH15_ENST00000395432.2_Missense_Mutation_p.R540W|PCDH15_ENST00000395433.1_Missense_Mutation_p.R555W|PCDH15_ENST00000409834.1_Missense_Mutation_p.R188W|PCDH15_ENST00000320301.6_Missense_Mutation_p.R577W|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395445.1_Missense_Mutation_p.R584W	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	577	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCGTAAGTCCGCCCGACTATC	0.483000										HNSCC(58;0.16)			114	176					0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88945442	88945442	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr14:88945442C>T	ENST00000556564.1	-	13	2617	c.2333G>A	c.(2332-2334)cGc>cAc	p.R778H	PTPN21_ENST00000328736.3_Missense_Mutation_p.R778H	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	778						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						TGCGGTCGTGCGGACGGGGCT	0.711000													5	295					0	0	1	0	0
TEAD4	7004	broad.mit.edu	37	12	3126693	3126693	+	Splice_Site	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:3126693G>A	ENST00000359864.2	+	6	673		c.e6+1		TEAD4_ENST00000358409.2_Intron|TEAD4_ENST00000397122.2_Splice_Site	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	TEA domain family member 4						hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			AGTCTCAGGGGTAAGTGGGCT	0.652000													3	59					0	0	1	0	0
RASA3	22821	broad.mit.edu	37	13	114773065	114773065	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr13:114773065C>T	ENST00000334062.7	-	18	1807	c.1686G>A	c.(1684-1686)tcG>tcA	p.S562S	RASA3_ENST00000389544.4_Silent_p.S530S	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	562					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TCCCCGAGGACGAAATCAGAT	0.552000													67	104					0	0	1	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117789465	117789465	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:117789465G>C	ENST00000528626.1	-	2	183	c.110C>G	c.(109-111)gCc>gGc	p.A37G	TMPRSS13_ENST00000526090.1_Missense_Mutation_p.A37G|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.A37G|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.A37G|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.A37G	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	37	12 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		AGATGCCTGGGCTGGAGATGC	0.632000													5	446					0	0	1	0	0
RAB33B	83452	broad.mit.edu	37	4	140375591	140375591	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr4:140375591G>A	ENST00000305626.5	+	1	631	c.242G>A	c.(241-243)cGc>cAc	p.R81H		NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	81					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					GATGGGGAGCGCATCAAGGTG	0.652000													4	82					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023559	18023559	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:18023559G>A	ENST00000205890.5	+	2	1783	c.1445G>A	c.(1444-1446)cGa>cAa	p.R482Q		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	482	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)					CTCTTCCCGCGACCCCAGGTG	0.632000													26	144					0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242253380	242253380	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:242253380G>C	ENST00000442594.2	-	11	1620	c.1111C>G	c.(1111-1113)Cag>Gag	p.Q371E	PLD5_ENST00000536534.1_Missense_Mutation_p.Q463E|PLD5_ENST00000427495.1_Missense_Mutation_p.Q401E	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	463						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CCAGCATTCTGAGTGAAATCA	0.398000													97	220					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													10	176					0	0	1	0	0
COL23A1	91522	broad.mit.edu	37	5	177688748	177688748	+	Splice_Site	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:177688748C>A	ENST00000390654.3	-	11	1034	c.675_splice	c.e11-1	p.G226_splice	COL23A1_ENST00000407622.1_Splice_Site_p.G190_splice	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	226	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TCCCTTTGGGCCCTGGAACAA	0.562000													117	181					3.04319e-57	3.36565e-57	1	1	0
CNOT11	55571	broad.mit.edu	37	2	101874417	101874417	+	Splice_Site	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:101874417G>A	ENST00000289382.3	+	2	842	c.679_splice	c.e2+1	p.E227_splice		NM_017546.4	NP_060016.3			CCR4-NOT transcription complex, subunit 11																		AGCCTTGGCCGGTAAGGAGGA	0.458000													5	363					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10969096	10969096	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr21:10969096C>T	ENST00000361285.4	-	7	481	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	TPTE_ENST00000298232.7_Intron|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Intron	NM_199261.2	NP_954870.2	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	51					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGGTGACACCCGGGCTGCTCC	0.453000													160	499					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	618833	618833	+	Missense_Mutation	SNP	G	G	C	rs139058512	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:618833G>C	ENST00000358353.3	-	14	2048	c.1726C>G	c.(1726-1728)Cca>Gca	p.P576A	CDHR5_ENST00000397542.2_Missense_Mutation_p.P576A|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	576	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GAGGTTCCTGGCTCTGGGGTC	0.667000													7	1024					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276474	186276474	+	Silent	SNP	T	T	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:186276474T>C	ENST00000445192.2	+	7	1668	c.1623T>C	c.(1621-1623)acT>acC	p.T541T	PRG4_ENST00000367485.4_Silent_p.T448T|PRG4_ENST00000367486.3_Silent_p.T498T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T500T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	541	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACTACCAAGTCTG	0.637000													7	453					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179436286	179436286	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:179436286A>T	ENST00000589042.1	-	326	74797	c.74573T>A	c.(74572-74574)aTt>aAt	p.I24858N	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I15985N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I15793N|TTN_ENST00000359218.5_Missense_Mutation_p.I15918N|TTN_ENST00000342992.6_Missense_Mutation_p.I22290N|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I23217N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23217	Fibronectin type-III 81.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTGATACAATTTGCCAGGT	0.418000													39	90					0	0	1	0	0
MARC2	54996	broad.mit.edu	37	1	220935024	220935024	+	Silent	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:220935024C>A	ENST00000366913.3	+	3	669	c.471C>A	c.(469-471)ggC>ggA	p.G157G	MARC2_ENST00000359316.2_Silent_p.G157G	NM_017898.3	NP_060368.2	Q969Z3	MOSC2_HUMAN	mitochondrial amidoxime reducing component 2	157						mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										ACATTAAAGGCAGAGACTGTG	0.403000													4	133					0.014758	0.0148469	1	1	0
WHAMMP3	0	broad.mit.edu	37	15	23191911	23191911	+	RNA	SNP	C	C	T	rs147199465	by1000genomes	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr15:23191911C>T	ENST00000400153.2	-	0	1785					NR_003521.1																						TGATTTTCTTCGCACTGATCC	0.408000													5	101					0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42694515	42694515	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:42694515G>A	ENST00000358131.5	+	6	1278	c.1070G>A	c.(1069-1071)cGg>cAg	p.R357Q	TOX2_ENST00000435864.2_Missense_Mutation_p.R253Q|TOX2_ENST00000372999.1_Missense_Mutation_p.R333Q|TOX2_ENST00000341197.3_Missense_Mutation_p.R375Q|TOX2_ENST00000423191.1_Missense_Mutation_p.R333Q	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGCCTCGCCCGGACGCTGGGC	0.706000													163	292					0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5053463	5053463	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:5053463G>A	ENST00000251170.7	+	11	1371	c.1191G>A	c.(1189-1191)ggG>ggA	p.G397G		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	397	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GGCGGCCGGGGGTGAAGGCCC	0.647000													5	390					0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077764	19077764	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:19077764G>A	ENST00000329773.2	-	2	273	c.186C>T	c.(184-186)aaC>aaT	p.N62N		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	62			N -> S (in dbSNP:rs10833049).		sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CAGAGAAGGCGTTCCTGCGCA	0.557000													76	448					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													7	366					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162555	90162555	+	RNA	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:90162555C>T	ENST00000564451.1	+	0	1908				TUBB8P7_ENST00000567960.1_RNA																							ATGCCACGGCCGAGGAGGAGG	0.522000													5	517					0	0	1	0	0
SDSL	113675	broad.mit.edu	37	12	113873183	113873183	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:113873183C>T	ENST00000403593.4	+	6	755	c.493C>T	c.(493-495)Cca>Tca	p.P165S	SDSL_ENST00000345635.4_Missense_Mutation_p.P165S			Q96GA7	SDSL_HUMAN	serine dehydratase-like	165					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	GCTGAGGACCCCACCAGGTGC	0.682000													8	71					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													7	273					0	0	1	0	0
IGHV3-53	0	broad.mit.edu	37	14	107048777	107048777	+	RNA	SNP	G	G	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr14:107048777G>T	ENST00000390627.2	-	0	463																											GGCCCTTCACGGAGTCTGCGT	0.532000													5	883					2.32078e-09	2.46861e-09	1	1	0
RCAN2	10231	broad.mit.edu	37	6	46214487	46214487	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:46214487G>A	ENST00000371374.1	-	4	760	c.569C>T	c.(568-570)cCa>cTa	p.P190L	RCAN2_ENST00000330430.6_Missense_Mutation_p.P144L|RCAN2_ENST00000306764.7_Missense_Mutation_p.P190L|RCAN2_ENST00000405162.1_Missense_Mutation_p.P190L	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	144					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AAGCTTACCTGGTCCTAGTTT	0.488000													4	116					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11757594	11757594	+	Missense_Mutation	SNP	C	C	T	rs144200063		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:11757594C>T	ENST00000262442.3	+	50	9850	c.9782C>T	c.(9781-9783)gCg>gTg	p.A3261V	DNAH9_ENST00000454412.2_Missense_Mutation_p.A3261V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3261	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAATCCTATGCGGCTGCAGGC	0.512000													5	534					0	0	1	0	0
PCDHB7	0	broad.mit.edu	37	5	140553994	140553994	+	Silent	SNP	G	G	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		526	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706000													6	595					3.07112e-06	3.18557e-06	1	1	0
KIAA0754	643314	broad.mit.edu	37	1	39879332	39879332	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:39879332C>T	ENST00000530275.1	+	1	3182	c.2987C>T	c.(2986-2988)tCc>tTc	p.S996F	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	996	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGCCCGCCTCCCCAGCTGCT	0.716000													5	118					0	0	1	0	0
SIRPA	140885	broad.mit.edu	37	20	1902132	1902132	+	Silent	SNP	A	A	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:1902132A>T	ENST00000358771.4	+	3	680	c.528A>T	c.(526-528)tcA>tcT	p.S176S	SIRPA_ENST00000400068.3_Silent_p.S176S|SIRPA_ENST00000356025.3_Silent_p.S176S	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	176	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	p.S176S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		ACGGCTTCTCACCCAGAGACA	0.582000													4	281					0	0	1	0	0
OR8K1	390157	broad.mit.edu	37	11	56113860	56113860	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:56113860T>A	ENST00000279783.2	+	1	440	c.346T>A	c.(346-348)Tct>Act	p.S116T		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TTTCATCATCTCTGAGCTCTT	0.403000										HNSCC(65;0.19)			5	748					0	0	1	0	0
TMEM140	55281	broad.mit.edu	37	7	134849251	134849251	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:134849251C>A	ENST00000275767.2	+	2	281	c.58C>A	c.(58-60)Ctc>Atc	p.L20I	C7orf49_ENST00000459937.1_Intron	NM_018295.4	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	20						integral to membrane				kidney(1)|large_intestine(2)|lung(2)	5						CATCATAGTCCTCGTGATTGT	0.582000													5	486					1.23904e-05	1.26945e-05	1	1	0
EPB41L4A	64097	broad.mit.edu	37	5	111500707	111500707	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:111500707G>A	ENST00000261486.5	-	23	2317	c.2041C>T	c.(2041-2043)Cgc>Tgc	p.R681C	EPB41L4A_ENST00000507810.1_Intron	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	681						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GTCTTGAGGCGGGAAGCTTGT	0.438000													5	260					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49738081	49738081	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:49738081C>T	ENST00000327697.6	+	15	1360	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W	RNF123_ENST00000432042.1_Missense_Mutation_p.R260W	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	406						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CCATTACCTGCGGCTCACTAT	0.607000													6	501					0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27121503	27121503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:27121503G>A	ENST00000288699.6	+	2	294	c.136G>A	c.(136-138)Ggc>Agc	p.G46S	DPYSL5_ENST00000401478.1_Missense_Mutation_p.G46S	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	46					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGATCCCTGGCGGGGCCAA	0.587000													4	258					0	0	1	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98678110	98678110	+	Splice_Site	SNP	T	T	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:98678110T>A	ENST00000288985.7	+	5	1287	c.983_splice	c.e5+1	p.W328_splice	ERCC6L2_ENST00000437817.1_Splice_Site_p.W139_splice|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	328	Helicase ATP-binding.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										TGTTATGGACTGGTGAGAGAA	0.363000													71	101					0	0	1	0	0
CLDN9	9080	broad.mit.edu	37	16	3063749	3063749	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:3063749G>A	ENST00000445369.2	+	1	1293	c.386G>A	c.(385-387)gGc>gAc	p.G129D		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	129					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						CTCCTCGCCGGCATCCTGGTG	0.662000													6	703					0	0	1	0	0
DHRS12	79758	broad.mit.edu	37	13	52343379	52343379	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr13:52343379G>A	ENST00000218981.1	-	8	721	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	DHRS12_ENST00000444610.2_Missense_Mutation_p.R253C	NM_024705.2	NP_078981.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	253							binding|oxidoreductase activity			cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		GCCTCGGAGCGCAGGCGGTCC	0.667000													3	50					0	0	1	0	0
CBLN3	643866	broad.mit.edu	37	14	24897533	24897533	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr14:24897533G>A	ENST00000267406.6	-	2	849	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	CBLN3_ENST00000555436.1_Missense_Mutation_p.R76W	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	127	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).					cell junction|extracellular region|synapse				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		ACATGGAACCGGAAGCTGTAG	0.652000													7	589					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													9	313					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													6	508					0	0	1	0	0
P4HA1	5033	broad.mit.edu	37	10	74828652	74828652	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:74828652C>A	ENST00000412021.2	-	6	748	c.415G>T	c.(415-417)Gat>Tat	p.D139Y	P4HA1_ENST00000440381.1_Missense_Mutation_p.D139Y|P4HA1_ENST00000263556.3_Missense_Mutation_p.D139Y|P4HA1_ENST00000394890.2_Missense_Mutation_p.D139Y|P4HA1_ENST00000307116.2_Missense_Mutation_p.D139Y|P4HA1_ENST00000373008.2_Missense_Mutation_p.D139Y	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	139						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTGTAGGTATCCTGGAGACGT	0.398000													202	305					2.7e-89	3.006e-89	1	1	0
MUC16	94025	broad.mit.edu	37	19	9057140	9057140	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:9057140C>A	ENST00000397910.4	-	3	30509	c.30306G>T	c.(30304-30306)atG>atT	p.M10102I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10104	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTCACTGCCATGCTTGAAG	0.468000													103	212					5.82527e-40	6.3583e-40	1	1	0
TMEM117	84216	broad.mit.edu	37	12	44782362	44782362	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:44782362C>T	ENST00000266534.3	+	8	1579	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Silent_p.T380T	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	484						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CCCACCTAACCTCGGAAAACT	0.453000													208	371					0	0	1	0	0
MGAT5	4249	broad.mit.edu	37	2	135012053	135012053	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:135012053A>G	ENST00000409645.1	+	2	331	c.79A>G	c.(79-81)Atg>Gtg	p.M27V	MGAT5_ENST00000281923.2_Missense_Mutation_p.M27V|MGAT5_ENST00000468758.1_3'UTR			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	27					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CATTTGGGGTATGATGCTTCT	0.522000													61	105					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15350213	15350213	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:15350213G>A	ENST00000263377.2	-	17	3787	c.3566C>T	c.(3565-3567)gCg>gTg	p.A1189V		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1189					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CTTTTTGGGCGCAACTGGAGT	0.627000			T	C15orf55	lethal midline carcinoma of young people								5	502					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29917793	29917793	+	Missense_Mutation	SNP	C	C	T	rs149145987		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:29917793C>T	ENST00000389048.3	-	3	1781	c.875G>A	c.(874-876)cGc>cAc	p.R292H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	292	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GGAGGGGATGCGGCGCCAGGA	0.597000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				5	573					0	0	1	0	0
TMEM50A	23585	broad.mit.edu	37	1	25687172	25687172	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:25687172C>T	ENST00000374358.4	+	7	1003	c.450C>T	c.(448-450)ggC>ggT	p.G150G	TMEM50A_ENST00000480937.1_3'UTR	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN	transmembrane protein 50A	150						endoplasmic reticulum|integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		TTAAGTTTGGCCGCACTGAAG	0.413000													4	236					0	0	1	0	0
MICU3	286097	broad.mit.edu	37	8	16963051	16963051	+	Silent	SNP	A	A	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:16963051A>C	ENST00000318063.5	+	11	1257	c.1215A>C	c.(1213-1215)tcA>tcC	p.S405S	MICU3_ENST00000519866.1_3'UTR	NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3																		AAAATACATCAGTATTTTTAG	0.308000													4	88					0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183885789	183885789	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:183885789G>A	ENST00000304685.3	+	17	2524	c.2063G>A	c.(2062-2064)cGc>cAc	p.R688H	RGL1_ENST00000536277.1_Missense_Mutation_p.R651H|RGL1_ENST00000367531.1_Missense_Mutation_p.R688H|RGL1_ENST00000539189.1_Missense_Mutation_p.R624H|RGL1_ENST00000360851.3_Missense_Mutation_p.R653H	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	653	Ras-associating.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TGCATAATCCGCATCAGTGTG	0.498000													5	296					0	0	1	0	0
PCYT1A	5130	broad.mit.edu	37	3	195965646	195965646	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:195965646G>A	ENST00000292823.2	-	10	1189	c.1017C>T	c.(1015-1017)tcC>tcT	p.S339S	PCYT1A_ENST00000419333.1_Silent_p.S339S|PCYT1A_ENST00000431016.1_Silent_p.S339S	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	339	3 X repeats.					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	AAGTCTTGCCGGAGAAGGGCC	0.607000													5	276					0	0	1	0	0
ZNF441	126068	broad.mit.edu	37	19	11891903	11891903	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:11891903A>G	ENST00000357901.4	+	4	1366	c.1264A>G	c.(1264-1266)Aaa>Gaa	p.K422E	ZNF441_ENST00000454339.2_Missense_Mutation_p.K355E	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATATAAATGTAAACAATGTGG	0.368000													61	84					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81173477	81173477	+	Splice_Site	SNP	G	G	A	rs142610156	by1000genomes	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr15:81173477G>A	ENST00000394685.3	+	6	1036	c.617_splice	c.e6+1	p.R206_splice	KIAA1199_ENST00000220244.3_Splice_Site_p.R206_splice|KIAA1199_ENST00000356249.5_Splice_Site_p.R206_splice			Q8WUJ3	K1199_HUMAN	KIAA1199	206										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CATTCTGACCGGTAAGGTTTG	0.488000													5	465					0	0	1	0	0
C4orf17	84103	broad.mit.edu	37	4	100460491	100460491	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr4:100460491T>C	ENST00000514652.1	+	7	1154	c.800T>C	c.(799-801)gTg>gCg	p.V267A	C4orf17_ENST00000326581.4_Missense_Mutation_p.V267A			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	267										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AAATCAAAAGTGCTGACCAGA	0.458000													16	209					0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123472784	123472784	+	Silent	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:123472784C>A	ENST00000280562.5	-	19	3181	c.2976G>T	c.(2974-2976)ctG>ctT	p.L992L	PITPNM2_ENST00000392428.1_Silent_p.L719L|PITPNM2_ENST00000320201.4_Silent_p.L998L|PITPNM2_ENST00000542749.1_Silent_p.L998L			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	0					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCCTCACCCGCAGCTTCACGT	0.627000													8	548					1.12685e-05	1.16163e-05	1	1	0
KCNA3	3738	broad.mit.edu	37	1	111216789	111216789	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:111216789C>T	ENST00000369769.2	-	1	866	c.643G>A	c.(643-645)Gac>Aac	p.D215N		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	215						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGCTGGAAGTCGCGGCGGGGC	0.682000													11	408					0	0	1	0	0
ASB18	401036	broad.mit.edu	37	2	237103689	237103689	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:237103689C>T	ENST00000330842.6	-	5	1234	c.1140G>A	c.(1138-1140)ccG>ccA	p.P380P	AC079135.1_ENST00000415226.1_RNA|AC079135.1_ENST00000483218.1_RNA|ASB18_ENST00000409749.3_Silent_p.P409P			Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	409					intracellular signal transduction					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		ACTGGTAGAACGGCTTGTGCA	0.542000													47	77					0	0	1	0	0
CCDC92	80212	broad.mit.edu	37	12	124428832	124428832	+	Silent	SNP	C	C	T	rs148809811		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:124428832C>T	ENST00000238156.3	-	2	375	c.21G>A	c.(19-21)tcG>tcA	p.S7S	CCDC92_ENST00000545891.1_Intron|CCDC92_ENST00000545135.1_5'UTR|CCDC92_ENST00000544798.1_5'UTR	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	7										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		CATCGTAACTCGAGAAATGTG	0.498000													77	169					0	0	1	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243456473	243456473	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:243456473C>T	ENST00000366541.3	+	6	745	c.627C>T	c.(625-627)gaC>gaT	p.D209D	SDCCAG8_ENST00000496361.1_3'UTR|SDCCAG8_ENST00000355875.4_Intron|SDCCAG8_ENST00000343783.6_Silent_p.D64D|SDCCAG8_ENST00000391846.1_Silent_p.D209D	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	209					establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TTTCCCATGACAATGCAGATT	0.403000													7	299					0	0	1	0	0
PEX3	8504	broad.mit.edu	37	6	143792154	143792154	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:143792154C>T	ENST00000367591.4	+	5	451	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	130	Interaction with PEX19.				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding	p.R130W(1)		endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		TGTTCTTTTGCGGGTCCAGTT	0.363000													5	158					0	0	1	0	0
KRTAP5-8	57830	broad.mit.edu	37	11	71249558	71249558	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:71249558T>A	ENST00000398534.3	+	1	488	c.457T>A	c.(457-459)Tgc>Agc	p.C153S		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	153	9 X 4 AA repeats of C-C-X-P.					extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TAAGCCCTGCTGCTGCTCTTC	0.602000													8	1255					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185892601	185892601	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:185892601C>G	ENST00000271588.4	+	8	1330	c.1101C>G	c.(1099-1101)atC>atG	p.I367M	HMCN1_ENST00000367492.2_Missense_Mutation_p.I367M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	367					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTTTGAGTATCTCAGGAAGTT	0.353000													6	166					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61929336	61929336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:61929336G>A	ENST00000422202.1	+	2	225	c.157G>A	c.(157-159)Ggc>Agc	p.G53S	COL20A1_ENST00000326996.6_Missense_Mutation_p.G53S|COL20A1_ENST00000435874.1_Missense_Mutation_p.G53S|COL20A1_ENST00000358894.6_Missense_Mutation_p.G53S			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	53	Fibronectin type-III 1.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGAGGGGAGCGGCCTCGGCTA	0.632000													6	246					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166171996	166171996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:166171996G>A	ENST00000357398.3	+	11	1689	c.1399G>A	c.(1399-1401)Gca>Aca	p.A467T	SCN2A_ENST00000283256.6_Missense_Mutation_p.A467T|SCN2A_ENST00000375437.2_Missense_Mutation_p.A467T|SCN2A_ENST00000375427.2_Missense_Mutation_p.A467T			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	467					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AGCTGCAGCCGCATCTGCTGA	0.408000													10	316					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202702804	202702804	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:202702804C>A	ENST00000367265.3	-	23	4798	c.3634G>T	c.(3634-3636)Ggc>Tgc	p.G1212C	KDM5B_ENST00000367264.2_Missense_Mutation_p.G1248C	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1212					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ATTCGCAGGCCCTGTGAAATA	0.542000													108	99					3.17147e-52	3.48445e-52	1	1	0
FMN2	56776	broad.mit.edu	37	1	240371373	240371373	+	Silent	SNP	A	A	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:240371373A>T	ENST00000319653.9	+	5	3491	c.3261A>T	c.(3259-3261)ccA>ccT	p.P1087P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1087	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCATACCCCCACCTCCCCCTC	0.726000													4	94					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323756	79323756	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:79323756G>A	ENST00000428286.1	-	8	3557	c.2357C>T	c.(2356-2358)gCg>gTg	p.A786V	PRUNE2_ENST00000376718.3_Missense_Mutation_p.A1145V			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1145					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGGGATTGCCGCACCCCCACT	0.522000													7	424					0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82645017	82645017	+	Silent	SNP	A	A	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:82645017A>C	ENST00000533655.1	+	6	2849	c.2637A>C	c.(2635-2637)ggA>ggC	p.G879G	C11orf82_ENST00000430323.2_Silent_p.G879G|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000329143.3_Silent_p.G578G	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	879					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ATATGCTTGGATTCCAAGGCA	0.408000													31	222					0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46326986	46326986	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:46326986C>T	ENST00000369367.3	-	9	895	c.662G>A	c.(661-663)aGt>aAt	p.S221N	SCAF11_ENST00000549162.1_Missense_Mutation_p.S29N|SCAF11_ENST00000419565.2_Missense_Mutation_p.S221N	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	221					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						AATCAATGCACTGATTTCACT	0.313000													48	109					0	0	1	0	0
C5orf38	153571	broad.mit.edu	37	5	2752818	2752818	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:2752818G>A	ENST00000515640.1	+	2	302	c.283G>A	c.(283-285)Gag>Aag	p.E95K	IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000457752.2_Intron|C5orf38_ENST00000505778.1_Missense_Mutation_p.E95K|C5orf38_ENST00000334000.3_Missense_Mutation_p.E95K|C5orf38_ENST00000397835.4_Missense_Mutation_p.E95K			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	95						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		CAGTCACGTCGAGAACGGGCA	0.602000													5	533					0	0	1	0	0
DTX2	113878	broad.mit.edu	37	7	76111833	76111833	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:76111833C>T	ENST00000324432.5	+	5	787	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W	DTX2_ENST00000472426.1_3'UTR|DTX2_ENST00000446600.1_Missense_Mutation_p.R2W|DTX2_ENST00000430490.2_Missense_Mutation_p.R93W|DTX2_ENST00000307569.8_Missense_Mutation_p.R93W|DTX2_ENST00000446820.2_Missense_Mutation_p.R93W|DTX2_ENST00000413936.2_Missense_Mutation_p.R93W	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	93	WWE 1.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGGCACCATGCGGGCTGTGCG	0.522000													6	470					0	0	1	0	0
OR52N1	79473	broad.mit.edu	37	11	5809643	5809643	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:5809643G>A	ENST00000317078.1	-	1	403	c.404C>T	c.(403-405)gCc>gTc	p.A135V	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GAGGATGGTGGCATAACGCAG	0.517000													5	380					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215933091	215933091	+	Silent	SNP	T	T	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:215933091T>C	ENST00000366943.2	-	57	11528	c.11142A>G	c.(11140-11142)caA>caG	p.Q3714Q	USH2A_ENST00000307340.3_Silent_p.Q3714Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3714	Fibronectin type-III 22.				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)		TCAATTGATATTGAGAAACGA	0.428000										HNSCC(13;0.011)			86	248					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104642766	104642766	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr14:104642766C>T	ENST00000315264.7	+	11	3602	c.3224C>T	c.(3223-3225)cCg>cTg	p.P1075L	KIF26A_ENST00000423312.2_Missense_Mutation_p.P1214L			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1214					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCCCGGAAACCGAGGACTGCC	0.721000													41	86					0	0	1	0	0
ZNF883	169834	broad.mit.edu	37	9	115759599	115759599	+	RNA	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:115759599G>A	ENST00000427548.1	-	0	2214							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TCCTGTATGCGTCCTCTGATG	0.378000													147	213					0	0	1	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													5	100					0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31789494	31789494	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:31789494G>A	ENST00000396556.2	-	5	970	c.848C>T	c.(847-849)gCt>gTt	p.A283V	OSBPL10_ENST00000438237.2_Missense_Mutation_p.A219V|OSBPL10_ENST00000467647.1_5'UTR	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	283					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GAGGGTGGCAGCAGAGGTAGC	0.637000													5	415					0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88704020	88704020	+	Splice_Site	SNP	G	G	A	rs140040286		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:88704020G>A	ENST00000372027.4	-	5	727	c.655_splice	c.e5+1	p.H218_splice		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	218						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GCCACTCACCGTGCCCTGTTT	0.617000													6	945					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804477	27804477	+	Missense_Mutation	SNP	G	G	A	rs112465116		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:27804477G>A	ENST00000408964.2	+	1	5089	c.5038G>A	c.(5038-5040)Ggt>Agt	p.G1680S		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1680	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAGCCATCGCGGTCCCTCAGA	0.572000													6	974					0	0	1	0	0
ONECUT2	9480	broad.mit.edu	37	18	55103544	55103544	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr18:55103544G>C	ENST00000491143.2	+	1	628	c.596G>C	c.(595-597)cGc>cCc	p.R199P		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	199					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		ACCCTCATGCGCGACGAGCGC	0.677000													39	35					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128983486	128983486	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:128983486G>A	ENST00000274487.4	+	12	2028	c.1883G>A	c.(1882-1884)aGg>aAg	p.R628K	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	628	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGTACCAGCAGGACCTCAGCA	0.507000													212	352					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42385463	42385463	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr13:42385463G>A	ENST00000379310.3	-	17	2029	c.1961C>T	c.(1960-1962)gCg>gTg	p.A654V	VWA8_ENST00000281496.6_Missense_Mutation_p.A654V	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		AAGTGATGCCGCTAATGATTG	0.393000													5	335					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522000													4	347					0	0	1	0	0
GCNT1	2650	broad.mit.edu	37	9	79118080	79118080	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:79118080C>T	ENST00000442371.1	+	3	1722	c.783C>T	c.(781-783)gtC>gtT	p.V261V	GCNT1_ENST00000376730.4_Silent_p.V261V|GCNT1_ENST00000536223.1_Silent_p.V261V|GCNT1_ENST00000444201.2_Silent_p.V261V	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	261	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GGTATGAGGTCGTTAATGGAA	0.463000													91	246					0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57288528	57288528	+	Silent	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:57288528C>A	ENST00000543872.2	+	2	1380	c.1116C>A	c.(1114-1116)ccC>ccA	p.P372P	CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Silent_p.P372P|SMG8_ENST00000578922.1_Silent_p.P372P			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	372					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TGCCTGCACCCCTTTCTGGGC	0.542000													5	221					0.000602214	0.000609514	1	1	0
MUC16	94025	broad.mit.edu	37	19	9089947	9089947	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:9089947G>T	ENST00000397910.4	-	1	2071	c.1868C>A	c.(1867-1869)aCa>aAa	p.T623K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	623	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGGTGGGTTGTGCCCTGGCT	0.577000													109	212					2.45337e-35	2.66047e-35	1	1	0
XPNPEP1	7511	broad.mit.edu	37	10	111630550	111630550	+	Silent	SNP	G	G	A	rs143796899		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:111630550G>A	ENST00000502935.1	-	18	1754	c.1635C>T	c.(1633-1635)tgC>tgT	p.C545C	XPNPEP1_ENST00000369683.1_Silent_p.C431C|XPNPEP1_ENST00000322238.8_Silent_p.C521C|XPNPEP1_ENST00000369680.4_Silent_p.C502C			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	502					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	p.C502C(2)|p.C545C(2)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AACTGATGCCGCAAGGACCCT	0.498000													5	498					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								8	138					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63032911	63032911	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr15:63032911C>T	ENST00000561311.1	+	31	4198	c.3968C>T	c.(3967-3969)tCt>tTt	p.S1323F	TLN2_ENST00000306829.6_Missense_Mutation_p.S1323F			Q9Y4G6	TLN2_HUMAN	talin 2	1323					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.S1323Y(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCTGCCAAGTCTCTCTCTGTA	0.493000													53	167					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994960	140994960	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567000										HNSCC(15;0.026)			8	937					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23410819	23410819	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:23410819A>G	ENST00000379361.4	+	3	2044	c.1184A>G	c.(1183-1185)aAc>aGc	p.N395S		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	395	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CCTTTCACGAACATTGAGGCA	0.483000													4	216					0	0	1	0	0
SDAD1P1	0	broad.mit.edu	37	8	26237686	26237686	+	RNA	SNP	T	T	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:26237686T>C	ENST00000519902.1	-	0	2262																											ATCATTACATTATTATCCTTG	0.438000													12	267					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117791722	117791722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:117791722C>T	ENST00000350763.4	-	25	6497	c.6086G>A	c.(6085-6087)cGc>cAc	p.R2029H	TNC_ENST00000340094.3_Missense_Mutation_p.R1665H|TNC_ENST00000542877.1_Missense_Mutation_p.R1666H|TNC_ENST00000537320.1_Missense_Mutation_p.R1392H|TNC_ENST00000341037.4_Missense_Mutation_p.R1847H|TNC_ENST00000535648.1_Missense_Mutation_p.R1574H|TNC_ENST00000346706.3_Missense_Mutation_p.R1483H|TNC_ENST00000345230.3_Missense_Mutation_p.R1392H|TNC_ENST00000423613.2_Missense_Mutation_p.R1756H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2029	Fibrinogen C-terminal.				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						TCCGTTTTTGCGTCTCAGGAA	0.488000													6	443					0	0	1	0	0
GRIN2C	2905	broad.mit.edu	37	17	72846360	72846360	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:72846360G>A	ENST00000293190.5	-	6	1622	c.1476C>T	c.(1474-1476)aaC>aaT	p.N492N	GRIN2C_ENST00000347612.4_Silent_p.N492N	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	492					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CAATCATGCCGTTCCATACGC	0.622000													5	304					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637216	248637216	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:248637216C>A	ENST00000359594.2	+	1	590	c.565C>A	c.(565-567)Ctg>Atg	p.L189M		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GACTCCTGCCCTGCTGAAGCT	0.512000													7	668					1.08611e-07	1.14797e-07	1	1	0
POMC	5443	broad.mit.edu	37	2	25387630	25387630	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:25387630C>T	ENST00000405623.1	-	2	467	c.12G>A	c.(10-12)tcG>tcA	p.S4S	POMC_ENST00000395826.2_Silent_p.S4S|POMC_ENST00000380794.1_Silent_p.S4S|POMC_ENST00000264708.3_Silent_p.S4S			P01189	COLI_HUMAN	proopiomelanocortin	4					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	GGCTGCAGCACGATCTCGGCA	0.607000													6	308					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133365860	133365860	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:133365860T>G	ENST00000204726.3	-	13	3122	c.2564A>C	c.(2563-2565)tAc>tCc	p.Y855S	GOLGA3_ENST00000537452.1_Missense_Mutation_p.Y855S|GOLGA3_ENST00000456883.2_Missense_Mutation_p.Y855S|GOLGA3_ENST00000450791.2_Missense_Mutation_p.Y855S|GOLGA3_ENST00000545875.1_Missense_Mutation_p.Y855S	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	855					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTCGCGCCGGTAGGCCTCCAC	0.637000													6	179					0	0	1	0	0
SLC19A1	6573	broad.mit.edu	37	21	46951654	46951654	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr21:46951654C>T	ENST00000311124.4	-	3	750	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	SLC19A1_ENST00000567670.1_Missense_Mutation_p.A200T|SLC19A1_ENST00000485649.2_Missense_Mutation_p.A160T|SLC19A1_ENST00000380010.4_Missense_Mutation_p.A200T	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	200					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		AGGAAGAGGGCGAGGACCACG	0.647000													46	38					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141051740	141051740	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:141051740G>A	ENST00000239440.4	-	10	1579	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	ARAP3_ENST00000513878.1_Missense_Mutation_p.A167V|ARAP3_ENST00000508305.1_Missense_Mutation_p.A427V	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	505	Arf-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCCACAGTCCGCACACTGCCG	0.612000													7	1029					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34150174	34150174	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:34150174G>A	ENST00000346193.3	-	1	273	c.222C>T	c.(220-222)gaC>gaT	p.D74D		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	74								p.D74D(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GTAAAAACTCGTCACGGCGAC	0.532000													187	86					0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	732477	732477	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:732477G>A	ENST00000382303.1	+	10	3757	c.3105G>A	c.(3103-3105)gaG>gaA	p.E1035E	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000382297.2_Silent_p.E1035E	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1035					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTGAAGAAGAGGAGGAGGAGG	0.468000													4	300					0	0	1	0	0
HSDL1	83693	broad.mit.edu	37	16	84164829	84164829	+	Missense_Mutation	SNP	G	G	A	rs143907842		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:84164829G>A	ENST00000219439.4	-	3	274	c.98C>T	c.(97-99)aCg>aTg	p.T33M	HSDL1_ENST00000434463.3_Missense_Mutation_p.T33M	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	33	Required for mitochondria translocation.					mitochondrion	oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						TTTTCTGGCCGTATACCAGGC	0.493000													5	499					0	0	1	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58007091	58007091	+	Silent	SNP	G	G	A	rs61754584		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:58007091G>A	ENST00000286494.4	+	3	817	c.357G>A	c.(355-357)ccG>ccA	p.P119P	AC025165.8_ENST00000356672.3_RNA|ARHGEF25_ENST00000333972.7_Silent_p.P158P|AC025165.8_ENST00000444467.1_RNA	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	119					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						AGGAGCTGCCGGAACTGACCT	0.597000													4	222					0	0	1	0	0
HIST1H2AC	8334	broad.mit.edu	37	6	26124800	26124800	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:26124800G>T	ENST00000602637.1	+	1	370	c.340G>T	c.(340-342)Gcc>Tcc	p.A114S	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.A114S			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	114					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						TAACATCCAGGCCGTGCTTCT	0.582000													22	206					1.50039e-11	1.60619e-11	1	1	0
FRG1B	0	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496	by1000genomes	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G														p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264000													6	183					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152327955	152327955	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.						calcium ion binding|structural molecule activity	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517000													8	1158					0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	183027561	183027561	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:183027561G>A	ENST00000328913.3	-	10	1353	c.1056C>T	c.(1054-1056)agC>agT	p.S352S	MCF2L2_ENST00000473233.1_Silent_p.S352S|MCF2L2_ENST00000414362.2_Silent_p.S352S|MCF2L2_ENST00000447025.2_Silent_p.S352S	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	352					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CGTGCATCACGCTGTCTCCAA	0.448000													8	321					0	0	1	0	0
TYMP	1890	broad.mit.edu	37	22	50966124	50966124	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr22:50966124G>A	ENST00000252029.3	-	5	701	c.539C>T	c.(538-540)gCg>gTg	p.A180V	TYMP_ENST00000395678.3_Missense_Mutation_p.A180V|TYMP_ENST00000395681.1_Missense_Mutation_p.A180V|TYMP_ENST00000395680.1_Missense_Mutation_p.A180V	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	180					angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	ACAGCAGCCCGCCTGGTCCAG	0.498000													4	312					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871857	51871857	+	Silent	SNP	C	C	T	rs143642849		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:51871857C>T	ENST00000371497.5	+	2	2747	c.1860C>T	c.(1858-1860)caC>caT	p.H620H	TSHZ2_ENST00000329613.6_Silent_p.H617H|TSHZ2_ENST00000603338.2_Silent_p.H617H	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	620					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAAGTCCCCACGAAGAGGCCT	0.517000													150	298					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													6	289					0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14014215	14014215	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:14014215C>T	ENST00000311895.7	+	1	202	c.193C>T	c.(193-195)Cag>Tag	p.Q65*	ERCC4_ENST00000575156.1_Nonsense_Mutation_p.Q65*	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	65					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GCTCAACACGCAGCCGGCCGA	0.697000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				30	33					0	0	1	0	0
CREBRF	153222	broad.mit.edu	37	5	172518124	172518124	+	Silent	SNP	A	A	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:172518124A>G	ENST00000540014.1	+	4	1261	c.942A>G	c.(940-942)ggA>ggG	p.G314G	CREBRF_ENST00000522692.1_Silent_p.G314G|CREBRF_ENST00000296953.2_Silent_p.G314G|CREBRF_ENST00000520420.1_Silent_p.G314G			Q8IUR6	CE041_HUMAN	CREB3 regulatory factor	314							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										TTGCAGCAGGAGAGAGCAGCA	0.478000													4	257					0	0	1	0	0
PCDHA1	0	broad.mit.edu	37	5	140166589	140166589	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:140166589C>T	ENST00000504120.2	+	1	714	c.714C>T	c.(712-714)aaC>aaT	p.N238N	PCDHA1_ENST00000378133.3_Silent_p.N238N|PCDHA1_ENST00000394633.3_Silent_p.N238N	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAATGATAACGCCCCACTGT	0.488000													136	221					0	0	1	0	0
HPS4	89781	broad.mit.edu	37	22	26849247	26849247	+	Silent	SNP	G	G	A	rs138189133		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr22:26849247G>A	ENST00000398145.2	-	14	2695	c.2079C>T	c.(2077-2079)tcC>tcT	p.S693S	HPS4_ENST00000493455.2_Intron|HPS4_ENST00000402105.3_Silent_p.S688S|HPS4_ENST00000398141.1_Silent_p.S706S|HPS4_ENST00000336873.5_Silent_p.S693S	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	693					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TTGCTTTGCCGGAGAGGCTGA	0.582000									Hermansky-Pudlak syndrome				5	581					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs145089594	by1000genomes	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:45128685T>C	ENST00000575173.1	-	0	418																											TTCCAGGATATGGCTATACTG	0.303000													5	274					0	0	1	0	0
FAM27L	284123	broad.mit.edu	37	17	21826334	21826334	+	RNA	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:21826334C>T	ENST00000426869.3	+	0	517					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		TCCCCTTATGCCCGTGGCGGT	0.567000													3	62					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133883773	133883773	+	Missense_Mutation	SNP	G	G	A	rs114781869	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:133883773G>A	ENST00000220616.4	+	4	495	c.455G>A	c.(454-456)cGc>cAc	p.R152H	TG_ENST00000377869.1_Missense_Mutation_p.R152H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	152	Thyroglobulin type-1 2.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TATGGGACCCGCCAGCTGGGG	0.592000													79	143					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								5	146					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642000													6	277					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57111912	57111912	+	Silent	SNP	G	G	A	rs2926744		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:57111912G>A	ENST00000454682.1	-	3	3683	c.3402C>T	c.(3400-3402)ccC>ccT	p.P1134P	NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642000			T	BCL6	NHL								5	540					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433000													5	364					0	0	1	0	0
SDCCAG3	10807	broad.mit.edu	37	9	139301658	139301658	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:139301658G>A	ENST00000298537.7	-	4	900	c.689C>T	c.(688-690)gCg>gTg	p.A230V	SDCCAG3_ENST00000371725.3_Missense_Mutation_p.A180V|SDCCAG3_ENST00000357365.3_Missense_Mutation_p.A253V	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	253						cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		TCCATGAACCGCAAAGTCTGC	0.627000													5	198					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146755420	146755420	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:146755420C>G	ENST00000361719.2	+	9	3543	c.3073C>G	c.(3073-3075)Cca>Gca	p.P1025A	GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P1025A	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1025	Gln/Pro-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GCAACCCCCTCCACAGCAGAA	0.662000													98	274					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128186	152128186	+	Silent	SNP	A	A	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:152128186A>G	ENST00000316073.3	-	3	1453	c.1389T>C	c.(1387-1389)taT>taC	p.Y463Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	463	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTCTGACCATAGTGGGAAC	0.512000													13	2509					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27448836	27448836	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:27448836C>T	ENST00000337929.3	+	4	653	c.180C>T	c.(178-180)gaC>gaT	p.D60D	IL21R_ENST00000395754.4_Silent_p.D60D|IL21R_ENST00000564089.1_Silent_p.D60D|IL21R_ENST00000395755.1_Silent_p.D60D	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	60					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						AGCTGAAGGACGAGGCCACCT	0.597000			T	BCL6	NHL								7	320					0	0	1	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43827457	43827457	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr15:43827457G>A	ENST00000420765.1	-	31	3899	c.3717C>T	c.(3715-3717)tcC>tcT	p.S1239S	PPIP5K1_ENST00000334933.4_Silent_p.S1214S|PPIP5K1_ENST00000396923.3_Silent_p.S1239S|PPIP5K1_ENST00000360301.4_Silent_p.S1214S|PPIP5K1_ENST00000381885.1_Silent_p.S1235S|PPIP5K1_ENST00000360135.4_Silent_p.S1212S|PPIP5K1_ENST00000381879.4_Silent_p.S1215S|PPIP5K1_ENST00000348806.6_Silent_p.S1212S	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1239					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						GCACCTGTGGGGACTGATTTG	0.562000													180	300					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			36	25					0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27687469	27687469	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:27687469C>T	ENST00000374040.3	-	13	2099	c.1839G>A	c.(1837-1839)acG>acA	p.T613T	MAP3K6_ENST00000357582.2_Silent_p.T621T|MAP3K6_ENST00000493901.1_Silent_p.T621T			O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	621					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AATCCGGGTTCGTCACCCAGG	0.716000													14	66					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													6	364					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338000													9	376					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30909555	30909555	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr21:30909555G>T	ENST00000399914.1	-	17	3322	c.2801C>A	c.(2800-2802)gCg>gAg	p.A934E	GRIK1_ENST00000389125.3_Missense_Mutation_p.A905E|GRIK1_ENST00000535441.1_Missense_Mutation_p.A922E|GRIK1_ENST00000327783.4_Missense_Mutation_p.A949E|GRIK1_ENST00000399913.1_Missense_Mutation_p.A920E			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	0					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CTTGGATCACGCCACAGTCTC	0.393000													4	106					1	1	1	1	0
SYT13	57586	broad.mit.edu	37	11	45307687	45307687	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:45307687G>A	ENST00000020926.3	-	1	183	c.72C>T	c.(70-72)tgC>tgT	p.C24C		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	24						transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						AGGTGACCCCGCACAACGCGA	0.706000													3	39					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73474290	73474290	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:73474290T>G	ENST00000252034.7	+	23	1888	c.1489T>G	c.(1489-1491)Ttg>Gtg	p.L497V	ELN_ENST00000414324.1_Missense_Mutation_p.L473V|ELN_ENST00000380553.4_Missense_Mutation_p.L361V|ELN_ENST00000380562.4_Missense_Mutation_p.L503V|ELN_ENST00000458204.1_Missense_Mutation_p.L487V|ELN_ENST00000380584.4_Missense_Mutation_p.L464V|ELN_ENST00000357036.5_Missense_Mutation_p.L502V|ELN_ENST00000320399.6_Missense_Mutation_p.L497V|ELN_ENST00000320492.7_Missense_Mutation_p.L416V|ELN_ENST00000445912.1_Missense_Mutation_p.L497V|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Missense_Mutation_p.L483V|ELN_ENST00000358929.4_Missense_Mutation_p.L532V|ELN_ENST00000380575.4_Missense_Mutation_p.L468V|ELN_ENST00000380576.5_Missense_Mutation_p.L478V	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	526	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TGGAGTTGGCTTGGCTCCTGG	0.607000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						168	598					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287663	16287663	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr22:16287663T>C	ENST00000343518.6	-	1	274	c.223A>G	c.(223-225)Agc>Ggc	p.S75G		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	75										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTCTTGCCGCTCCCCCTGCAC	0.582000													9	1671					0	0	1	0	0
AOC4P	0	broad.mit.edu	37	17	41020316	41020316	+	RNA	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:41020316G>A	ENST00000585538.1	+	0	1155					NR_002773.1																						CTTTGGCCTCGGAGCATTCAG	0.602000													16	99					0	0	1	0	0
STAU1	6780	broad.mit.edu	37	20	47741012	47741012	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:47741012G>A	ENST00000371828.3	-	7	984	c.497C>T	c.(496-498)gCc>gTc	p.A166V	STAU1_ENST00000371856.2_Missense_Mutation_p.A241V|STAU1_ENST00000371792.1_Missense_Mutation_p.A160V|STAU1_ENST00000347458.5_Missense_Mutation_p.A160V|STAU1_ENST00000340954.7_Missense_Mutation_p.A160V|STAU1_ENST00000371802.1_Missense_Mutation_p.A166V|STAU1_ENST00000360426.4_Missense_Mutation_p.A160V	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	241						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			AGCTATGGCGGCATTTTTCTT	0.468000													7	666					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21512193	21512193	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr18:21512193G>A	ENST00000313654.9	+	66	8887	c.8646G>A	c.(8644-8646)cgG>cgA	p.R2882R	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.R1217R|LAMA3_ENST00000269217.6_Silent_p.R1273R|LAMA3_ENST00000399516.3_Silent_p.R2826R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2882	Laminin G-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAAGTTCCCGGCAGTCTCTGC	0.458000													5	568					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532000			T	MLL	ALL								6	100					0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328648	80328648	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr4:80328648G>C	ENST00000358842.3	-	1	724	c.707C>G	c.(706-708)tCt>tGt	p.S236C		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	236					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GATCTCAGAAGAACTGAAGAC	0.413000													19	252					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	A	rs28934573		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:7577559G>A	ENST00000420246.2	-	7	854	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TP53_ENST00000455263.2_Missense_Mutation_p.S241F|TP53_ENST00000269305.4_Missense_Mutation_p.S241F|TP53_ENST00000359597.4_Missense_Mutation_p.S241F|TP53_ENST00000413465.2_Missense_Mutation_p.S241F|TP53_ENST00000445888.2_Missense_Mutation_p.S241F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCCATGCAGGAACTGTTACA	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			91	90					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18668998	18668998	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:18668998G>A	ENST00000406451.3	+	7	831	c.681G>A	c.(679-681)cgG>cgA	p.R227R	HDAC9_ENST00000524023.1_Intron|HDAC9_ENST00000417496.2_Intron|HDAC9_ENST00000456174.2_Silent_p.R199R|HDAC9_ENST00000441542.2_Silent_p.R230R|HDAC9_ENST00000432645.2_Silent_p.R227R|HDAC9_ENST00000405010.3_Silent_p.R227R|HDAC9_ENST00000428307.2_Intron|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000406072.1_Intron	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	227	Interaction with ETV6.|Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGAAGGTGCGGTCCAGGTTAA	0.408000													26	46					0	0	1	0	0
C1orf177	163747	broad.mit.edu	37	1	55277737	55277737	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:55277737G>A	ENST00000358193.3	+	6	691	c.637G>A	c.(637-639)Ggc>Agc	p.G213S	C1orf177_ENST00000371273.3_Missense_Mutation_p.G213S	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	213										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						TCTGGGACCCGGCACCTACTT	0.612000													6	565					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84608089	84608089	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:84608089A>T	ENST00000344803.2	+	4	2751	c.2704A>T	c.(2704-2706)Atg>Ttg	p.M902L		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.M902V(2)									CAAACAAAAGATGTTGGAAGC	0.433000													69	125					0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8100716	8100716	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:8100716C>A	ENST00000379328.3	+	3	1258	c.690C>A	c.(688-690)agC>agA	p.S230R	GATA3_ENST00000346208.3_Missense_Mutation_p.S230R|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	230					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCGAGTACAGCTCCGGACTCT	0.697000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						74	303					1.08321e-29	1.16707e-29	1	1	0
CYP11B1	0	broad.mit.edu	37	8	143958154	143958154	+	Missense_Mutation	SNP	G	G	A	rs34620645	by1000genomes	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:143958154G>A	ENST00000292427.4	-	4	775	c.743C>T	c.(742-744)aCc>aTc	p.T248I	CYP11B1_ENST00000377675.3_Missense_Mutation_p.T319I|CYP11B1_ENST00000517471.1_Missense_Mutation_p.T248I	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	248			T -> I (in dbSNP:rs34620645).		aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CTTGGGGCTGGTCCAGCGAGA	0.602000									Familial Hyperaldosteronism type I				7	134					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2716164	2716164	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:2716164C>T	ENST00000399655.1	+	26	3489	c.3224C>T	c.(3223-3225)aCg>aTg	p.T1075M	CACNA1C_ENST00000399606.1_Missense_Mutation_p.T1095M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T1075M|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000347598.4_Missense_Mutation_p.T1095M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T1100M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T1075M	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1095					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AACTACATCACGTACAAAGAC	0.557000													49	50					0	0	1	0	0
ANKRD20A12P	0	broad.mit.edu	37	1	142716575	142716578	+	RNA	DEL	AAAC	AAAC	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:142716575_142716578delAAAC	ENST00000595144.1	-	0	418																											catctcagaaaaacaaacaaacaa	0.422													10	173	---	---	---	---					
RP11-435B5.5	0	broad.mit.edu	37	1	143391923	143391924	+	RNA	DEL	AT	AT	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:143391923_143391924delAT	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							TATTTTGGAGATATATATATAT	0.262													7	23	---	---	---	---					
SOX11	6664	broad.mit.edu	37	2	5833526	5833528	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:5833526_5833528delGAC	ENST00000322002.3	+	1	728_730	c.673_675delGAC	c.(673-675)del	p.D233del		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	233	Poly-Asp.				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		TCTGGATGAGgacgacgacgacg	0.700													7	126	---	---	---	---					
DYSF	8291	broad.mit.edu	37	2	71801420	71801422	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:71801420_71801422delCCG	ENST00000258104.3	+	30	3544_3546	c.3267_3269delCCG	c.(3265-3270)ttc>tt	p.FR1089del	DYSF_ENST00000409744.1_In_Frame_Del_p.FR1076del|DYSF_ENST00000409582.3_In_Frame_Del_p.FR1106del|DYSF_ENST00000409366.1_In_Frame_Del_p.FR1090del|DYSF_ENST00000409762.1_In_Frame_Del_p.FR1106del|DYSF_ENST00000394120.2_In_Frame_Del_p.FR1090del|DYSF_ENST00000413539.2_In_Frame_Del_p.FR1120del|DYSF_ENST00000410020.3_In_Frame_Del_p.FR1107del|DYSF_ENST00000409651.1_In_Frame_Del_p.FR1121del|DYSF_ENST00000429174.2_In_Frame_Del_p.FR1089del|DYSF_ENST00000410041.1_In_Frame_Del_p.FR1107del	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1089	Arg-rich.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGATGCCTTCCGCCGCCGCCGC	0.655													7	992	---	---	---	---					
ANKRD36	375248	broad.mit.edu	37	2	97808574	97808575	+	Splice_Site	INS	-	-	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:97808574_97808575insA	ENST00000420699.2	+	8	1145		c.e8+2		ANKRD36_ENST00000461153.2_Splice_Site	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36									p.?(1)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTGGGACAGGTATTTTGGAATA	0.366													20	22	---	---	---	---					
PLA2R1	0	broad.mit.edu	37	2	160801441	160801442	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:160801441_160801442insT	ENST00000283243.7	-	28	4325_4326	c.4119_4120insA	c.(4117-4122)aagcttfs	p.L1374fs	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1374	C-type lectin 8.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CATATAAAGCCTTTTTTTTCTT	0.401													14	628	---	---	---	---					
SCN7A	6332	broad.mit.edu	37	2	167313539	167313540	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:167313539_167313540insA	ENST00000409855.1	-	10	1256_1257	c.1130_1131insT	c.(1129-1131)gagfs	p.E377fs		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	377					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACAAAAAACTTACCACCACAAA	0.347													42	63	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179638797	179638797	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:179638797delT	ENST00000589042.1	-	31	7322	c.7098delA	c.(7096-7098)aafs	p.K2366fs	TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.K2320fs|TTN_ENST00000591111.1_Frame_Shift_Del_p.K2366fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.K2366fs|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.K2320fs|TTN_ENST00000342175.6_Frame_Shift_Del_p.K2320fs|TTN_ENST00000360870.5_Frame_Shift_Del_p.K2366fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2088	Ig-like 13.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCACAGACTTTTTGGTCAC	0.428													7	484	---	---	---	---					
SGOL2	151246	broad.mit.edu	37	2	201437003	201437004	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:201437003_201437004insT	ENST00000357799.4	+	7	2032_2033	c.1934_1935insT	c.(1933-1935)attfs	p.I645fs		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	645					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAAAAAGGTAATTTTTTTTTCA	0.337													8	407	---	---	---	---					
IRS1	3667	broad.mit.edu	37	2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:227660808_227660810delGCT	ENST00000305123.4	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)ccc>c	p.QP882del		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGCAGCAAGGgctgctgctgctg	0.626													11	363	---	---	---	---					
EFHD1	80303	broad.mit.edu	37	2	233546363	233546365	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:233546363_233546365delGGA	ENST00000264059.3	+	4	1131_1133	c.654_656delGGA	c.(652-657)cgg>cg	p.RE218del	EFHD1_ENST00000409613.1_In_Frame_Del_p.RE122del|EFHD1_ENST00000409708.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000410095.1_In_Frame_Del_p.RE106del	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	218							calcium ion binding|protein binding			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		AGCGGAAGCGGGAGGAGGAGGAG	0.547													9	449	---	---	---	---					
EBLN2	55096	broad.mit.edu	37	3	73111481	73111482	+	Frame_Shift_Ins	INS	-	-	A	rs147131789	by1000genomes	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:73111481_73111482insA	ENST00000533473.1	+	1	672_673	c.249_250insA	c.(247-252)aagacafs	p.T84fs	PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000394284.3_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	84							protein binding			endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						CTGGGAAAAACAGACAGTATCC	0.480													13	38	---	---	---	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)del	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507													12	871	---	---	---	---					
MECOM	2122	broad.mit.edu	37	3	168833756	168833762	+	Frame_Shift_Del	DEL	TTATTAT	TTATTAT	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:168833756_168833762delTTATTAT	ENST00000464456.1	-	7	2534_2540	c.1334_1340delATAATAA	c.(1333-1341)agfs	p.NNK445fs	MECOM_ENST00000460814.1_Frame_Shift_Del_p.NNK445fs|MECOM_ENST00000433243.2_Frame_Shift_Del_p.NNK446fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.NNK445fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.NNK510fs|MECOM_ENST00000494292.1_Frame_Shift_Del_p.NNK633fs|MECOM_ENST00000472280.1_Frame_Shift_Del_p.NNK446fs|MECOM_ENST00000468789.1_Frame_Shift_Del_p.NNK445fs	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GTATTCTTTCTTATTATTTATTGAAGC	0.348													77	158	---	---	---	---					
GNPDA2	132789	broad.mit.edu	37	4	44724119	44724120	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr4:44724119_44724120insA	ENST00000509756.1	-	2	211_212	c.105_106insT	c.(103-108)ttcactfs	p.T36fs	GNPDA2_ENST00000511187.1_Intron|GNPDA2_ENST00000507917.1_Frame_Shift_Ins_p.T36fs|GNPDA2_ENST00000295448.3_Frame_Shift_Ins_p.T36fs|GNPDA2_ENST00000507534.1_Intron			Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	36					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						AAACCCAGTGTAAAATATCTGT	0.332													70	72	---	---	---	---					
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr4:146077123_146077125delCAG	ENST00000454497.2	-	8	595_597	c.458_460delCTG	c.(457-462)gat>g	p.AD153del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	218	OTU.						protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.340													9	213	---	---	---	---					
MYO10	4651	broad.mit.edu	37	5	16694605	16694606	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:16694605_16694606insC	ENST00000513610.1	-	27	4128_4129	c.3674_3675insG	c.(3673-3675)gtcfs	p.V1225fs	MYO10_ENST00000505695.1_Frame_Shift_Ins_p.V564fs|MYO10_ENST00000274203.9_Frame_Shift_Ins_p.V582fs|MYO10_ENST00000515803.1_Frame_Shift_Ins_p.V564fs|MYO10_ENST00000427430.2_Frame_Shift_Ins_p.V582fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1225	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	p.S1226fs*25(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCGTGGAGGAGCCCCCCCCTTT	0.564													8	600	---	---	---	---					
BTNL8	79908	broad.mit.edu	37	5	180374632	180374633	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:180374632_180374633delGA	ENST00000231229.4	+	4	1028_1029	c.794_795delGA	c.(793-795)cfs	p.R265fs	BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000340184.4_Intron|BTNL8_ENST00000508408.1_Frame_Shift_Del_p.R265fs|BTNL8_ENST00000533815.2_Intron|BTNL8_ENST00000505126.1_Intron	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	265						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGTGTAAGCGAGAGAGAGAAG	0.495													10	1358	---	---	---	---					
RREB1	6239	broad.mit.edu	37	6	7230570	7230570	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:7230570delC	ENST00000379938.2	+	10	2775	c.2238delC	c.(2236-2238)gafs	p.D746fs	RREB1_ENST00000334984.6_Frame_Shift_Del_p.D746fs|RREB1_ENST00000379933.3_Frame_Shift_Del_p.D746fs|RREB1_ENST00000349384.6_Frame_Shift_Del_p.D746fs	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	746					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGCTGGTGGACGCCTTCTGCG	0.662													126	93	---	---	---	---					
BTN2A2	10385	broad.mit.edu	37	6	26384091	26384093	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:26384091_26384093delCCT	ENST00000356709.4	+	2	153_155	c.42_44delCCT	c.(40-45)tcc>tc	p.SL14del	BTN2A2_ENST00000469230.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000352867.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000482536.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000416795.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000432533.2_In_Frame_Del_p.SL14del	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	14					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TGCCAGCCTCcctcctcctcctc	0.581													8	349	---	---	---	---					
ICA1	3382	broad.mit.edu	37	7	8196560	8196578	+	Frame_Shift_Del	DEL	AAAAAAAAAAAAAAAAAAA	AAAAAAAAAAAAAAAAAAA	-	rs147272214		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:8196560_8196578delAAAAAAAAAAAAAAAAAAA	ENST00000407906.1	-	8	1223_1241	c.972_990delTTTTTTTTTTTTTTTTTTT	c.(970-990)ttfs	p.FFFFFFF324fs	ICA1_ENST00000422063.2_Intron|ICA1_ENST00000401396.1_Intron|ICA1_ENST00000402384.3_Intron|ICA1_ENST00000396675.3_Intron|ICA1_ENST00000265577.7_Intron|ICA1_ENST00000406470.2_Intron			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	0					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		CTGATGCAGTaaaaaaaaaaaaaaaaaaaaaaaaagaaa	0.370													7	3	---	---	---	---					
STX1A	6804	broad.mit.edu	37	7	73123425	73123427	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:73123425_73123427delCAT	ENST00000222812.3	-	2	82_84	c.56_58delATG	c.(55-60)gtc>g	p.DV19del	STX1A_ENST00000395155.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395154.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395156.3_In_Frame_Del_p.DV19del	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	19					energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				GTGACAGCGACATCATCATCATC	0.586													7	603	---	---	---	---					
STAG3L2	0	broad.mit.edu	37	7	74300557	74300564	+	RNA	DEL	AGAGCTCC	AGAGCTCC	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:74300557_74300564delAGAGCTCC	ENST00000423186.1	-	0	573_580							P0CL84	ST3L2_HUMAN								nucleus	binding	p.E82fs*32(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CGGCCAGTGAAGAGCTCCAGGCGTGCGG	0.572													10	11	---	---	---	---					
TRBV7-6	0	broad.mit.edu	37	7	142139683	142139684	+	RNA	INS	-	-	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:142139683_142139684insA	ENST00000390374.3	-	0	94																											cctacacacaGAAAAAAAAATG	0.490													7	343	---	---	---	---					
TRBV7-4	0	broad.mit.edu	37	7	142176678	142176679	+	RNA	DEL	CA	CA	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:142176678_142176679delCA	ENST00000390369.2	-	0	49																											GTAGTCATCGCACACACACACA	0.460													10	224	---	---	---	---					
SFTPC	6440	broad.mit.edu	37	8	22021060	22021061	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:22021060_22021061delGT	ENST00000522109.1	+	4	460_461	c.436_437delGT	c.(436-438)gfs	p.V146fs	SFTPC_ENST00000318561.3_Splice_Site|SFTPC_ENST00000521315.1_Splice_Site|SFTPC_ENST00000437090.2_Splice_Site|SFTPC_ENST00000524255.1_Splice_Site|SFTPC_ENST00000520605.1_Splice_Site			P11686	PSPC_HUMAN	surfactant protein C	146	BRICHOS.				respiratory gaseous exchange	extracellular space		p.M146fs*41(1)		autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CAACTTCCAGGTGTGTGTGTGT	0.545													7	159	---	---	---	---					
KCNU1	157855	broad.mit.edu	37	8	36768517	36768518	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:36768517_36768518insC	ENST00000399881.3	+	22	2438_2439	c.2401_2402insC	c.(2401-2403)cccfs	p.P801fs		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	801						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGCTGTCTTGTCCCCCCCACCC	0.525													10	416	---	---	---	---					
TOX	9760	broad.mit.edu	37	8	59750796	59750798	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:59750796_59750798delCTT	ENST00000361421.1	-	5	986_988	c.766_768delAAG	c.(766-768)del	p.K256del		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	256						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CATTGGGATCCTTCTTCTTCTTC	0.453													7	647	---	---	---	---					
CHD7	55636	broad.mit.edu	37	8	61769038	61769040	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:61769038_61769040delGGA	ENST00000423902.2	+	34	7678_7680	c.7199_7201delGGA	c.(7198-7203)cgg>c	p.RR2404del	CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2404	Poly-Arg.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCTCGCCAGCGGAGGAGGAGGAG	0.512													7	135	---	---	---	---					
COL22A1	169044	broad.mit.edu	37	8	139727970	139727970	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:139727970delT	ENST00000303045.6	-	30	2918	c.2472delA	c.(2470-2472)aafs	p.K824fs	COL22A1_ENST00000435777.1_Frame_Shift_Del_p.K824fs|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	824	Collagen-like 6.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.K824>?(1)|p.K824N(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCAGTTCACCTTTTTCTCCCT	0.383										HNSCC(7;0.00092)			7	464	---	---	---	---					
RP11-204M4.2	0	broad.mit.edu	37	9	41962602	41962602	+	RNA	DEL	G	G	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:41962602delG	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373													8	245	---	---	---	---					
ERCC6	2074	broad.mit.edu	37	10	50732139	50732141	+	In_Frame_Del	DEL	CCT	CCT	-	rs4253047	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:50732139_50732141delCCT	ENST00000355832.5	-	5	1413_1415	c.1335_1337delAGG	c.(1333-1338)ggt>gg	p.GG445del	ERCC6-PGBD3_ENST00000515869.1_In_Frame_Del_p.GG445del|ERCC6-PGBD3_ENST00000447839.2_In_Frame_Del_p.GG445del|PGBD3_ENST00000603152.1_In_Frame_Del_p.GG445del|PGBD3_ENST00000374127.3_5'UTR	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	445	Gly-rich.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CACTTTCCGACCTCCTCCTCCTC	0.458								Direct reversal of damage;Nucleotide excision repair (NER)					7	577	---	---	---	---					
C10orf82	143379	broad.mit.edu	37	10	118424338	118424338	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:118424338delT	ENST00000369210.3	-	4	449	c.395delA	c.(394-396)acfs	p.N132fs	C10orf82_ENST00000588184.1_Frame_Shift_Del_p.N132fs	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	132										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		CTTGTAGCAGTTTTTGGCCAT	0.567													7	669	---	---	---	---					
CPXM2	119587	broad.mit.edu	37	10	125530495	125530495	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:125530495delT	ENST00000241305.3	-	8	1193	c.1039delA	c.(1039-1041)gcfs	p.S347fs	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	347					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCCTGGTGGCTTTTTCCAATG	0.458													7	1243	---	---	---	---					
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	GGTGGT	-	rs59413596		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:47788664_47788669delGGTGGT	ENST00000263773.5	-	1	184_189	c.172_177delACCACC	c.(172-177)del	p.TT58del	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	58								p.T58_T59delTT(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748													9	12	---	---	---	---					
TMEM132A	54972	broad.mit.edu	37	11	60703785	60703787	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:60703785_60703787delGGA	ENST00000005286.4	+	11	2634_2636	c.2481_2483delGGA	c.(2479-2484)agg>ag	p.RE827del	TMEM132A_ENST00000453848.2_In_Frame_Del_p.RE826del	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	826	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Glu-rich.					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCGAAGCCAGggaggaggaggag	0.635													7	552	---	---	---	---					
LRFN4	78999	broad.mit.edu	37	11	66625231	66625233	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:66625231_66625233delCTG	ENST00000309602.4	+	1	259_261	c.16_18delCTG	c.(16-18)del	p.L10del	LRFN4_ENST00000393952.3_In_Frame_Del_p.L10del|PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000531590.1_3'UTR|PC_ENST00000393955.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	10						integral to membrane				breast(1)|lung(1)|prostate(1)	3						CCCGCCGCTCCTGCTGCTGCTGC	0.719													7	228	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49427251	49427265	+	In_Frame_Del	DEL	TGCTGCTGCTGCTGT	TGCTGCTGCTGCTGT	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:49427251_49427265delTGCTGCTGCTGCTGT	ENST00000301067.7	-	39	11222_11236	c.11223_11237delACAGCAGCAGCAGCA	c.(11221-11238)cac>ca	p.QQQQQH3741del		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.Q3475*(1)|p.Q3745*(1)									TCCTAGAAGGtgctgctgctgctgttgctgctgct	0.591													32	50	---	---	---	---					
MARS	4141	broad.mit.edu	37	12	57883053	57883053	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:57883053delT	ENST00000262027.5	+	3	338	c.204delT	c.(202-204)tafs	p.Y68fs	MARS_ENST00000447721.2_Intron|MARS_ENST00000315473.5_5'UTR	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	68					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TGGGCAGATATTTTTTTTTGT	0.488													7	269	---	---	---	---					
TMTC3	160418	broad.mit.edu	37	12	88566417	88566417	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:88566417delT	ENST00000266712.6	+	8	1314	c.1094delT	c.(1093-1095)ctfs	p.L365fs		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	365						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GCATCGAACCTTTTTTTTCCA	0.313													7	385	---	---	---	---					
POP5	51367	broad.mit.edu	37	12	121017154	121017156	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:121017154_121017156delCTC	ENST00000341039.2	-	4	323_325	c.307_309delGAG	c.(307-309)del	p.E103del	POP5_ENST00000542776.1_5'UTR|POP5_ENST00000357500.4_In_Frame_Del_p.E153del	NM_198202.1	NP_937845.1	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	153					tRNA processing		protein binding|ribonuclease P activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CCTCACCTGACTCCTCCTCCTCC	0.517													7	527	---	---	---	---					
SBNO1	55206	broad.mit.edu	37	12	123806251	123806251	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:123806251delT	ENST00000420886.2	-	16	2153	c.2154delA	c.(2152-2154)aafs	p.K718fs	SBNO1_ENST00000267176.4_Frame_Shift_Del_p.K717fs|SBNO1_ENST00000602398.1_Frame_Shift_Del_p.K718fs|SBNO1_ENST00000602750.1_Frame_Shift_Del_p.K717fs	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	718							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTTTTCGTGCTTTTTTGGCTT	0.418													7	380	---	---	---	---					
TPTE2	93492	broad.mit.edu	37	13	20041394	20041394	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr13:20041394delA	ENST00000400230.2	-	7	527	c.483delT	c.(481-483)ttfs	p.F161fs	TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	161						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTTAATGTCAAAAAAAATGT	0.303													8	277	---	---	---	---					
PABPC3	5042	broad.mit.edu	37	13	25671273	25671273	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr13:25671273delG	ENST00000281589.3	+	1	974	c.937delG	c.(937-939)cgfs	p.A313fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	313	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCTCCGGAAAGCGTTTTCTCC	0.408													17	1021	---	---	---	---					
WASF3	10810	broad.mit.edu	37	13	27250862	27250863	+	Splice_Site	DEL	GT	GT	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr13:27250862_27250863delGT	ENST00000335327.5	+	7	894		c.e7+1		WASF3_ENST00000361042.4_Intron	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3						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)		CAGATACTAGGTGTGTGTGTGT	0.475													10	348	---	---	---	---					
GOLGA8DP	0	broad.mit.edu	37	15	22709277	22709278	+	RNA	INS	-	-	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr15:22709277_22709278insA	ENST00000314246.8	-	0	1157																											CTCTGGATTCCAaaaaaaaaag	0.515													5	8	---	---	---	---					
CHD2	1106	broad.mit.edu	37	15	93540315	93540316	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr15:93540315_93540316insA	ENST00000394196.4	+	29	4792_4793	c.3724_3725insA	c.(3724-3726)aaafs	p.K1242fs	CHD2_ENST00000557381.1_Frame_Shift_Ins_p.K1242fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1242					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGACCCTGAAGAAAAAAAAAAG	0.347													12	198	---	---	---	---					
Z84812.4	0	broad.mit.edu	37	16	81973	81974	+	RNA	INS	-	-	GTCC			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:81973_81974insGTCC	ENST00000568710.1	-	0	349																											ATCAGCAGGAGGCCCACCTCGT	0.614													14	138	---	---	---	---					
RP11-420N3.2	0	broad.mit.edu	37	16	5313074	5313076	+	RNA	DEL	GGT	GGT	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:5313074_5313076delGGT	ENST00000569895.1	+	0	304																											GCAGggtgacggtggtggtggtg	0.483													7	173	---	---	---	---					
KIAA0430	9665	broad.mit.edu	37	16	15729982	15729984	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:15729982_15729984delCCA	ENST00000396368.3	-	3	566_568	c.360_362delTGG	c.(358-363)ggc>gg	p.GG120del	KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	119	Poly-Gly.					peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCCGCTACCGCCACCACCACCAC	0.532													7	516	---	---	---	---					
RP11-488I20.8	0	broad.mit.edu	37	16	34481062	34481062	+	RNA	DEL	A	A	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:34481062delA	ENST00000569557.2	+	0	63																											CCTTTGGGGCAAAAAAAAAAA	0.438													4	3	---	---	---	---					
RP11-51O6.1	0	broad.mit.edu	37	16	61089300	61089303	+	RNA	DEL	TTCT	TTCT	-	rs80101907		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:61089300_61089303delTTCT	ENST00000591758.1	-	0	565_566																											TAGCttcttcttcttttttttttt	0.240													8	94	---	---	---	---					
NPIPB15	440348	broad.mit.edu	37	16	74425400	74425402	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:74425400_74425402delCAA	ENST00000429990.1	+	7	850_852	c.754_756delCAA	c.(754-756)del	p.Q253del						nuclear pore complex interacting protein family, member B15																		TCCTCCAACTCAACAACATTCTA	0.517													8	249	---	---	---	---					
SMAD4	4089	broad.mit.edu	37	18	48604761	48604764	+	Frame_Shift_Del	DEL	ACTT	ACTT	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr18:48604761_48604764delACTT	ENST00000342988.3	+	12	2121_2124	c.1583_1586delACTT	c.(1582-1587)cafs	p.HL528fs	SMAD4_ENST00000398417.2_Frame_Shift_Del_p.HL528fs|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000588745.1_Frame_Shift_Del_p.HL432fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	528	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.L529fs*7(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		ATTGAAATTCACTTACACCGGGCC	0.495													131	140	---	---	---	---					
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:38882864_38882866delCCT	ENST00000587013.1	+	3	569_571	c.491_493delCCT	c.(490-495)ccc>c	p.PS164del	SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del|SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del|SPRED3_ENST00000587564.2_3'UTR			Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	120					multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645													12	98	---	---	---	---					
RYR1	6261	broad.mit.edu	37	19	38948159	38948160	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:38948159_38948160delTG	ENST00000355481.4	+	17	1945_1946	c.1814_1815delTG	c.(1813-1815)cfs	p.L605fs	RYR1_ENST00000359596.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	605	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTATGCTCCCTGTGTGTGTGTA	0.530													7	954	---	---	---	---					
SERTAD1	29950	broad.mit.edu	37	19	40929409	40929411	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:40929409_40929411delCTC	ENST00000357949.4	-	2	201_203	c.43_45delGAG	c.(43-45)del	p.E15del		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	15					positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGGTTCCTTCTCCTCCTCCTCC	0.557													7	363	---	---	---	---					
GLTSCR1	29998	broad.mit.edu	37	19	48197891	48197891	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:48197891delC	ENST00000396720.3	+	8	2997	c.2803delC	c.(2803-2805)ccfs	p.P940fs	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	940	Poly-Pro.						protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GCCGGCAGCACCCCCCCCACC	0.672													9	251	---	---	---	---					
RP4-697P8.3	0	broad.mit.edu	37	20	10869748	10869748	+	RNA	DEL	T	T	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:10869748delT	ENST00000448859.1	-	0	1058				RP11-103J8.1_ENST00000605292.1_RNA																							TCtttttttattttttttttt	0.438													8	139	---	---	---	---					
RP4-777D9.2	0	broad.mit.edu	37	20	21146805	21146805	+	RNA	DEL	G	G	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:21146805delG	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA																							TTTTTTTTTTGTCCATGAGGC	0.383													7	93	---	---	---	---					
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:56099187delT	ENST00000426658.2	-	1	736	c.75delA	c.(73-75)aafs	p.K25fs	CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	25					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502													11	1556	---	---	---	---					
MYH9	4627	broad.mit.edu	37	22	36689419	36689421	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr22:36689419_36689421delCCT	ENST00000216181.5	-	30	4279_4281	c.4049_4051delAGG	c.(4048-4053)gcc>g	p.EA1350del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1350				E -> EE (in Ref. 7).	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGTGCTTGGCCTCCTCCTCCTC	0.650			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				7	321	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44894229	44894232	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:44894229_44894232delAAGT	ENST00000377967.4	+	7	659_660	c.619_splice	c.e7+1	p.E206_splice	KDM6A_ENST00000382899.4_Splice_Site_p.E206_splice|KDM6A_ENST00000543216.1_Splice_Site_p.E206_splice|KDM6A_ENST00000536777.1_Splice_Site_p.E206_splice	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	206					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(12)|p.0?(6)|p.?(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CCAATGCTGAAAGTAAGTATTATT	0.333			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								86	52	---	---	---	---					
MAMLD1	10046	broad.mit.edu	37	X	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:149639325_149639327delCAG	ENST00000370401.2	+	4	1790_1792	c.1480_1482delCAG	c.(1480-1482)del	p.Q502del	MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532													7	199	---	---	---	---					
