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
PGR	5241	broad.mit.edu	37	11	100912815	100912815	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr11:100912815C>T	ENST00000325455.5	-	7	3960	c.2507G>A	c.(2506-2508)cGa>cAa	p.R836Q	PGR_ENST00000263463.5_Missense_Mutation_p.R734Q|PGR_ENST00000534013.1_Missense_Mutation_p.R242Q	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	836	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.R836Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	GGTTTGACTTCGTAGCCCTTC	0.383000													3	50					0	0	1	0	0
RBMY1E	378950	broad.mit.edu	37	Y	24050330	24050330	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chrY:24050330C>T	ENST00000382659.2	-	12	1355	c.1204G>A	c.(1204-1206)Ggt>Agt	p.G402S	RBMY1E_ENST00000382673.2_Intron|RBMY1E_ENST00000382658.4_Missense_Mutation_p.G365S	NM_001006118.2	NP_001006118.2			RNA binding motif protein, Y-linked, family 1, member E											lung(1)	1						GGTGGTGCACCATGAGCGGTC	0.428000													12	85					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123901018	123901018	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr11:123901018C>T	ENST00000431524.1	+	1	722	c.689C>T	c.(688-690)tCa>tTa	p.S230L		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ATCCGCACCTCAGAGGGGAAG	0.537000													12	83					0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159459581	159459581	+	Splice_Site	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr2:159459581G>A	ENST00000389757.3	+	4	370		c.e4-1		PKP4_ENST00000389759.3_Splice_Site	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4						cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TTTTTCTTTAGCTCAACTGAG	0.259000										HNSCC(62;0.18)			5	70					0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55281318	55281318	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:55281318G>A	ENST00000336077.6	+	1	56	c.16G>A	c.(16-18)Gtc>Atc	p.V6I	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.V6I	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	6					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		GCTCTTGGTCGTCAGCATGGC	0.607000											OREG0003674	type=REGULATORY REGION|Gene=KIR2DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	13	55					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81183425	81183425	+	RNA	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr16:81183425G>A	ENST00000525539.1	-	0	4622				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGCGAGCGCAGCGGCTGAAGA	0.607000													8	30					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													5	118					0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37601286	37601286	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr20:37601286A>G	ENST00000252011.3	+	3	292	c.259A>G	c.(259-261)Att>Gtt	p.I87V	DHX35_ENST00000373325.2_Missense_Mutation_p.I87V|DHX35_ENST00000373323.4_Intron	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	87	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GAGCACACAGATTCCTCAGGT	0.333000													6	42					0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9413161	9413161	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:9413161T>A	ENST00000591998.1	-	3	296	c.68A>T	c.(67-69)gAt>gTt	p.D23V	ZNF699_ENST00000308650.3_Missense_Mutation_p.D23V|ZNF699_ENST00000588336.1_5'UTR			Q32M78	ZN699_HUMAN	zinc finger protein 699	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CACAGCCACATCCTCAAAGAC	0.463000													6	66					0	0	1	0	0
MCOLN1	57192	broad.mit.edu	37	19	7593548	7593548	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:7593548C>T	ENST00000264079.6	+	8	1068	c.943C>T	c.(943-945)Ctc>Ttc	p.L315F		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	315					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCCTTCCTCCTCTGCGCCCG	0.632000													4	41					0	0	1	0	0
SLC15A1	6564	broad.mit.edu	37	13	99337171	99337171	+	Splice_Site	SNP	T	T	C			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr13:99337171T>C	ENST00000376503.5	-	23	1991		c.e23-2			NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1						digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CTCGGCCCACTTTGAAGAAAT	0.428000													8	15					0	0	1	0	0
FAM222B	55731	broad.mit.edu	37	17	27085549	27085549	+	Silent	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:27085549G>A	ENST00000341217.5	-	3	1643	c.1428C>T	c.(1426-1428)caC>caT	p.H476H	FAM222B_ENST00000581407.1_Silent_p.H476H|FAM222B_ENST00000452648.3_Silent_p.H476H|FAM222B_ENST00000582266.1_3'UTR	NM_018182.2	NP_060652.2	Q8WU58	CQ063_HUMAN	family with sequence similarity 222, member B	476																	GCTGCCCACCGTGGAACGGCA	0.647000													9	36					0	0	1	0	0
JMJD4	65094	broad.mit.edu	37	1	227920211	227920211	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr1:227920211A>G	ENST00000366758.3	-	6	1273	c.1274T>C	c.(1273-1275)cTg>cCg	p.L425P	SNAP47_ENST00000480897.1_3'UTR|SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000438896.2_Missense_Mutation_p.L409P|JMJD4_ENST00000485807.1_5'UTR	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	425										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				CAAGGAGGCCAGCACCTCTGT	0.612000													10	48					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10404747	10404747	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:10404747G>A	ENST00000226207.5	-	27	3512	c.3418C>T	c.(3418-3420)Cgc>Tgc	p.R1140C	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1140						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AGATCAGAGCGCTGCTTCTCT	0.587000													15	72					0	0	1	0	0
ULBP3	79465	broad.mit.edu	37	6	150387184	150387184	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr6:150387184C>T	ENST00000367339.1	-	2	231	c.203G>A	c.(202-204)gGc>gAc	p.G68D	ULBP3_ENST00000438272.2_Missense_Mutation_p.G68D			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	68	MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		CTTGTCACTGCCACAGTCATA	0.498000													24	93					0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50701500	50701500	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr20:50701500C>T	ENST00000361387.2	-	9	1594	c.1534G>A	c.(1534-1536)Gtg>Atg	p.V512M	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Missense_Mutation_p.V293M	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGCTGTGCACGCGCAGGGCG	0.657000													10	52					0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119017386	119017386	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr10:119017386C>T	ENST00000298472.5	+	10	1117	c.974C>T	c.(973-975)tCc>tTc	p.S325F	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	325					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	ACCATGTGTTCCCGAAAGTGG	0.572000													10	31					0	0	1	0	0
PAXBP1	94104	broad.mit.edu	37	21	34123275	34123275	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr21:34123275T>C	ENST00000331923.4	-	10	1865	c.1676A>G	c.(1675-1677)gAt>gGt	p.D559G	PAXBP1_ENST00000290178.4_Missense_Mutation_p.D559G	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1																		TTCTTCATCATCACTGGAAAG	0.368000													4	109					0	0	1	0	0
PLA2R1	0	broad.mit.edu	37	2	160901539	160901539	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr2:160901539C>T	ENST00000283243.7	-	2	445	c.239G>A	c.(238-240)gGc>gAc	p.G80D	PLA2R1_ENST00000392771.1_Missense_Mutation_p.G80D	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	80	Ricin B-type lectin.				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						GTTAAAGAGGCCATGGTTTGA	0.478000													15	38					0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10956459	10956459	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr6:10956459G>T	ENST00000283141.6	+	25	2443	c.2147G>T	c.(2146-2148)cGg>cTg	p.R716L		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	716						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ACTAAAAAACGGAAAAGAAAA	0.388000													4	15					0.00909568	0.00924238	1	1	0
MGA	23269	broad.mit.edu	37	15	42019568	42019568	+	Silent	SNP	A	A	G			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr15:42019568A>G	ENST00000219905.7	+	10	3802	c.3621A>G	c.(3619-3621)aaA>aaG	p.K1207K	MGA_ENST00000545763.1_Silent_p.K1207K|MGA_ENST00000566586.1_Silent_p.K1207K|MGA_ENST00000389936.4_Silent_p.K1207K|MGA_ENST00000570161.1_Silent_p.K1207K	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1207						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CTGGAATTAAATCTCCACGGT	0.413000													23	99					0	0	1	0	0
LILRB5	0	broad.mit.edu	37	19	54754820	54754820	+	Missense_Mutation	SNP	T	T	G	rs429425	by1000genomes	TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:54754820T>G	ENST00000450632.1	-	13	1892	c.1815A>C	c.(1813-1815)ttA>ttC	p.L605F	LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	440					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGTGAGAGGTAAGGAACGTG	0.607000													3	26					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70331677	70331677	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr11:70331677C>A	ENST00000338508.4	-	32	4723	c.4724G>T	c.(4723-4725)aGc>aTc	p.S1575I	SHANK2_ENST00000409161.1_Missense_Mutation_p.S978I|SHANK2_ENST00000449833.2_Missense_Mutation_p.S979I|SHANK2_ENST00000423696.2_Missense_Mutation_p.S1195I			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1195					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			gATAACAAAGCTATCTACATC	0.572000													5	127					1	1	1	1	0
KRT25	147183	broad.mit.edu	37	17	38905574	38905574	+	Silent	SNP	G	G	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:38905574G>T	ENST00000312150.4	-	7	1239	c.1179C>A	c.(1177-1179)gcC>gcA	p.A393A		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	393	Tail.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CAGACTTACAGGCTCTGTGAA	0.378000													11	105					0.00010058	0.000107399	1	1	0
CNGA2	1260	broad.mit.edu	37	X	150912517	150912517	+	Silent	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chrX:150912517G>A	ENST00000329903.4	+	6	1575	c.1542G>A	c.(1540-1542)tcG>tcA	p.S514S		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	514					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTGCTGTCGGCTGGAAGCT	0.512000													14	31					0	0	1	0	0
SPDL1	54908	broad.mit.edu	37	5	169028287	169028287	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr5:169028287C>T	ENST00000265295.4	+	11	1607	c.1328C>T	c.(1327-1329)aCa>aTa	p.T443I		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		TTCTCAGAGACAGTTGAAGTG	0.418000													14	24					0	0	1	0	0
CXCR2	3579	broad.mit.edu	37	2	218999635	218999635	+	Silent	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr2:218999635C>T	ENST00000318507.2	+	3	538	c.111C>T	c.(109-111)gcC>gcT	p.A37A		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	37					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						TAGATGCCGCCCCATGTGAAC	0.458000													23	89					0	0	1	0	0
MIR320A	0	broad.mit.edu	37	8	22102484	22102484	+	RNA	SNP	T	T	C			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr8:22102484T>C	ENST00000385302.1	-	0	72					NR_029714.1																						CACCTCATCCTTTTTCGCCCT	0.637000													4	101					0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53303413	53303413	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:53303413C>T	ENST00000438150.2	-	2	2419	c.1526G>A	c.(1525-1527)cGc>cAc	p.R509H	ZNF28_ENST00000360272.4_Missense_Mutation_p.R509H|ZNF28_ENST00000457749.2_Missense_Mutation_p.R562H|ZNF28_ENST00000414252.2_Missense_Mutation_p.R509H			P17035	ZNF28_HUMAN	zinc finger protein 28	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GTGTGATTTGCGACTGAAAAC	0.413000													4	127					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29665041	29665041	+	Nonsense_Mutation	SNP	A	A	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:29665041A>T	ENST00000444181.2	+	2	86	c.82A>T	c.(82-84)Aga>Tga	p.R28*	NF1_ENST00000417592.2_Intron|NF1_ENST00000358273.4_Splice_Site|NF1_ENST00000356175.3_Splice_Site			P21359	NF1_HUMAN	neurofibromin 1	2235					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTTAATTGCAGATTTGCATT	0.318000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			30	67					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198719744	198719744	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr1:198719744C>G	ENST00000367376.2	+	29	3361	c.3190C>G	c.(3190-3192)Cat>Gat	p.H1064D	PTPRC_ENST00000348564.6_Missense_Mutation_p.H905D|PTPRC_ENST00000442510.2_Missense_Mutation_p.H1066D|PTPRC_ENST00000594404.1_Missense_Mutation_p.H903D|PTPRC_ENST00000352140.3_Missense_Mutation_p.H1016D	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1064	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGAACTGAAACATGGAGACCA	0.413000													4	125					0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8136303	8136303	+	Silent	SNP	T	T	C			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:8136303T>C	ENST00000315684.8	-	11	1873	c.1866A>G	c.(1864-1866)caA>caG	p.Q622Q		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	622					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGTCCCGAAGTTGCAGACAAC	0.488000													16	121					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18968242	18968242	+	Silent	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:18968242G>A	ENST00000262803.5	+	15	2354	c.2082G>A	c.(2080-2082)cgG>cgA	p.R694R	UPF1_ENST00000599848.1_Silent_p.R705R	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	705					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TGGGCATCCGGCCCATCCGCC	0.647000													13	29					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25464457	25464457	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr2:25464457C>A	ENST00000264709.3	-	17	2393	c.2056G>T	c.(2056-2058)Gac>Tac	p.D686Y	DNMT3A_ENST00000380746.4_Missense_Mutation_p.D497Y|DNMT3A_ENST00000321117.5_Missense_Mutation_p.D686Y|DNMT3A_ENST00000402667.1_Missense_Mutation_p.D463Y|DNMT3A_ENST00000474887.1_5'UTR	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	686					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.D686G(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCGGACGTCCCCGACGTAC	0.627000			"""Mis, F, N, S"""		AML								11	22					0.000673444	0.000707116	1	1	0
AFAP1L1	134265	broad.mit.edu	37	5	148699992	148699992	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr5:148699992G>A	ENST00000296721.4	+	14	1762	c.1664G>A	c.(1663-1665)cGa>cAa	p.R555Q	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.R555Q	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	555							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGAGCCCCGAGTCTATGAT	0.458000													5	50					0	0	1	0	0
D86994.2	0	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													3	6					0	0	1	0	0
SOHLH2	54937	broad.mit.edu	37	13	36748670	36748670	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr13:36748670C>G	ENST00000379881.3	-	8	912	c.824G>C	c.(823-825)tGt>tCt	p.C275S	SOHLH2_ENST00000554962.1_Missense_Mutation_p.C352S|CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.C352S	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TTGTTTCTTACAAAACCTCAT	0.383000													11	61					0	0	1	0	0
D86994.2	0	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													3	6					1.23904e-05	1.34585e-05	1	1	0
GRIK1	2897	broad.mit.edu	37	21	31045398	31045398	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr21:31045398C>A	ENST00000399914.1	-	4	1152	c.631G>T	c.(631-633)Gat>Tat	p.D211Y	GRIK1_ENST00000309434.7_Missense_Mutation_p.D211Y|GRIK1_ENST00000327783.4_Missense_Mutation_p.D211Y|GRIK1_ENST00000535441.1_Missense_Mutation_p.D211Y|GRIK1_ENST00000399907.1_Missense_Mutation_p.D211Y|GRIK1_ENST00000389125.3_Missense_Mutation_p.D211Y|GRIK1_ENST00000399909.1_Missense_Mutation_p.D211Y|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399913.1_Missense_Mutation_p.D211Y|GRIK1_ENST00000389124.2_Missense_Mutation_p.D211Y			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	211					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)	GGCTTGGCATCTTTATTCCCA	0.403000													19	140					5.35267e-07	6.02175e-07	1	1	0
LRP2	4036	broad.mit.edu	37	2	170093622	170093622	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr2:170093622G>A	ENST00000263816.3	-	28	4967	c.4682C>T	c.(4681-4683)cCc>cTc	p.P1561L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1561					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTTCATTCTGGGATCTAATGC	0.368000													9	69					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54823433	54823433	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chrX:54823433G>T	ENST00000218436.6	-	2	228	c.199C>A	c.(199-201)Cat>Aat	p.H67N		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	67	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										ATGGCTTCATGGGCTTCAGCA	0.458000													3	40					2.56e-06	2.82947e-06	1	1	0
SERPINB7	8710	broad.mit.edu	37	18	61449741	61449741	+	Silent	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr18:61449741C>T	ENST00000398019.2	+	2	460	c.135C>T	c.(133-135)ggC>ggT	p.G45G	SERPINB7_ENST00000546027.1_Silent_p.G45G|SERPINB7_ENST00000336429.2_Silent_p.G45G|SERPINB7_ENST00000540675.1_Silent_p.G45G	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	45					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TCCGCTTGGGCGCTCAAGATG	0.478000													21	56					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133142022	133142022	+	Silent	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr8:133142022C>T	ENST00000388996.4	-	15	2526	c.2106G>A	c.(2104-2106)gtG>gtA	p.V702V	KCNQ3_ENST00000521134.1_Silent_p.V582V|KCNQ3_ENST00000519445.1_Silent_p.V690V	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	702					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGTCAATGGTCACCTGGTGGA	0.527000													13	45					0	0	1	0	0
AKAP7	9465	broad.mit.edu	37	6	131574228	131574228	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr6:131574228T>C	ENST00000474850.2	+	2	239	c.101T>C	c.(100-102)aTa>aCa	p.I34T	AKAP7_ENST00000368123.4_Intron|AKAP7_ENST00000263050.3_Intron|AKAP7_ENST00000541650.1_Intron|AKAP7_ENST00000431975.2_Intron|AKAP7_ENST00000537868.1_Intron|AKAP7_ENST00000342266.4_Intron	NM_138633.2	NP_619539.1	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	34	Required for apical membrane localization.				intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		AGCAAGGATATACCCAGTTGG	0.443000													14	28					0	0	1	0	0
RAB19	401409	broad.mit.edu	37	7	140111797	140111797	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr7:140111797C>T	ENST00000275874.5	+	4	664	c.466C>T	c.(466-468)Cct>Tct	p.P156S	RAB19_ENST00000356407.3_Missense_Mutation_p.P109S|RAB19_ENST00000537763.1_Missense_Mutation_p.P109S			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	109					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					CGAGTCCATCCCTCACTGGAT	0.498000													22	130					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179354494	179354494	+	Splice_Site	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr1:179354494G>A	ENST00000367618.3	+	9	1250	c.863_splice	c.e9+1	p.R288_splice	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Splice_Site_p.R288_splice	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	288										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TCTAAAGTCAGGTTAGTGCTG	0.358000													15	46					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204135	9204135	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:9204135G>C	ENST00000429566.3	+	1	281	c.215G>C	c.(214-216)tGt>tCt	p.C72S		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GTTGATTTCTGTCTGGCCACC	0.547000													13	57					0	0	1	0	0
AGAP7	653268	broad.mit.edu	37	10	51464823	51464823	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr10:51464823G>A	ENST00000374095.5	-	7	1758	c.1633C>T	c.(1633-1635)Cgt>Tgt	p.R545C		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	545	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TATTTGGAACGGATCCACCGT	0.582000													4	111					0	0	1	0	0
MAPK7	5598	broad.mit.edu	37	17	19284565	19284565	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:19284565C>G	ENST00000308406.5	+	4	1429	c.1043C>G	c.(1042-1044)gCc>gGc	p.A348G	MAPK7_ENST00000395602.4_Missense_Mutation_p.A348G|MAPK7_ENST00000395604.3_Missense_Mutation_p.A348G|MAPK7_ENST00000299612.7_Missense_Mutation_p.A209G|MAPK7_ENST00000571657.1_Intron	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	348	Necessary for oligomerization (By similarity).				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCTTTCCTGGCCAAGTACCAT	0.612000													5	54					0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69344613	69344613	+	Silent	SNP	C	C	T	rs144869043	byFrequency	TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr4:69344613C>T	ENST00000305363.4	+	9	1078	c.1014C>T	c.(1012-1014)gaC>gaT	p.D338D		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	338	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CTCTCATAGACGCTACAACTT	0.363000													31	204					0	0	1	0	0
PKD2L2	27039	broad.mit.edu	37	5	137259133	137259133	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr5:137259133G>T	ENST00000508638.1	+	8	1226	c.1171G>T	c.(1171-1173)Gat>Tat	p.D391Y	PKD2L2_ENST00000502810.1_Missense_Mutation_p.D470Y|PKD2L2_ENST00000290431.5_Missense_Mutation_p.D492Y|PKD2L2_ENST00000350250.4_Missense_Mutation_p.D458Y|PKD2L2_ENST00000508883.1_Missense_Mutation_p.D492Y	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	391						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AATTATTAATGATACCTATTC	0.274000													9	88					0.000978159	0.00101023	1	1	0
UMODL1	89766	broad.mit.edu	37	21	43547321	43547321	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr21:43547321G>A	ENST00000400427.1	+	18	4063	c.3667G>A	c.(3667-3669)Gac>Aac	p.D1223N	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408989.2_Missense_Mutation_p.D1295N|UMODL1_ENST00000408910.2_Missense_Mutation_p.D1167N|UMODL1_ENST00000400424.1_Missense_Mutation_p.D1095N	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1167	ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CAACGCCCGGGACCCCATCAC	0.567000													21	32					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180038363	180038363	+	Silent	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr5:180038363C>T	ENST00000261937.6	-	27	3732	c.3654G>A	c.(3652-3654)ccG>ccA	p.P1218P	FLT4_ENST00000502649.1_Silent_p.P1218P|FLT4_ENST00000393347.3_Silent_p.P1218P	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1218					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCAGGCTTGGCGGGCTGTCCT	0.637000													15	97					0	0	1	0	0
ARMC2	84071	broad.mit.edu	37	6	109286254	109286254	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr6:109286254G>A	ENST00000392644.4	+	17	2525	c.2357G>A	c.(2356-2358)tGg>tAg	p.W786*	ARMC2_ENST00000368972.3_Nonsense_Mutation_p.W621*|ARMC2_ENST00000481850.1_3'UTR	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	786							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		AAAACTTTATGGAACTTCAGT	0.373000													16	166					0	0	1	0	0
ATP6V1G3	127124	broad.mit.edu	37	1	198492549	198492549	+	Missense_Mutation	SNP	A	A	G	rs140981596		TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr1:198492549A>G	ENST00000367381.1	-	5	452	c.347T>C	c.(346-348)aTc>aCc	p.I116T	ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.I116T|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.I110T|ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.I110T			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	110					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						GTTCACATGGATTTCTGGTTT	0.393000													6	31					0	0	1	0	0
RNF125	54941	broad.mit.edu	37	18	29645962	29645962	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr18:29645962A>C	ENST00000217740.3	+	5	1094	c.602A>C	c.(601-603)gAt>gCt	p.D201A	RNF125_ENST00000583384.1_3'UTR|RP11-53I6.2_ENST00000583184.1_RNA	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	201					negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TTGTTTTATGATGATTTCATA	0.338000													11	70					0	0	1	0	0
HMMR	3161	broad.mit.edu	37	5	162909742	162909742	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr5:162909742G>A	ENST00000416990.2	+	13	1632	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	HMMR_ENST00000358715.3_Missense_Mutation_p.D493N|HMMR_ENST00000432118.2_Missense_Mutation_p.D407N|HMMR_ENST00000353866.3_Missense_Mutation_p.D478N|HMMR_ENST00000393915.4_Missense_Mutation_p.D494N			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	493						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		AAATGCAGAGGATGTTCAGCA	0.378000													18	46					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135744237	135744237	+	Silent	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr2:135744237C>T	ENST00000375845.3	-	7	2235	c.2205G>A	c.(2203-2205)gaG>gaA	p.E735E	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.E622E|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Silent_p.E752E|MAP3K19_ENST00000392918.3_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		AGACTTTGTGCTCTTGTTTAA	0.373000													11	97					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186105941	186105941	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr1:186105941G>A	ENST00000271588.4	+	87	13683	c.13454G>A	c.(13453-13455)cGg>cAg	p.R4485Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4485Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4485	Ig-like C2-type 44.				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						TGGGATGACCGGGTTAACGTG	0.433000													14	57					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5360010	5360010	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr7:5360010delG	ENST00000399537.4	-	24	7032	c.6684delC	c.(6682-6684)acfs	p.T2228fs	TNRC18_ENST00000430969.1_Frame_Shift_Del_p.T2228fs			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2228							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTGCAATCCTGGTCCCTTGTG	0.597													2	4	---	---	---	---					
ARID2	196528	broad.mit.edu	37	12	46245237	46245238	+	Frame_Shift_Ins	INS	-	-	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr12:46245237_46245238insT	ENST00000334344.6	+	15	3503_3504	c.3331_3332insT	c.(3331-3333)gcafs	p.A1111fs	ARID2_ENST00000444670.1_Frame_Shift_Ins_p.A721fs|ARID2_ENST00000422737.1_Frame_Shift_Ins_p.A962fs|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1111	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGGTTTTGGAGTGCAGGGGCAA	0.545			"""N, S, F"""		hepatocellular carcinoma								16	49	---	---	---	---					
TTBK2	146057	broad.mit.edu	37	15	43045134	43045138	+	Frame_Shift_Del	DEL	AAATT	AAATT	-			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr15:43045134_43045138delAAATT	ENST00000267890.6	-	14	2414_2418	c.2306_2310delAATTT	c.(2305-2310)gfs	p.EF769fs		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	769					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GGAGATTTTCAAATTCTCTCACAAC	0.390													20	180	---	---	---	---					
MEX3B	84206	broad.mit.edu	37	15	82337987	82337989	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr15:82337987_82337989delGCC	ENST00000558133.1	-	1	471_473	c.58_60delGGC	c.(58-60)del	p.G20del	MEX3B_ENST00000329713.4_In_Frame_Del_p.G20del			Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	20					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CTccgctgctgccgccgccgccg	0.754													3	6	---	---	---	---					
KRT17P1	0	broad.mit.edu	37	17	16748911	16748913	+	RNA	DEL	GCT	GCT	-			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:16748911_16748913delGCT	ENST00000580363.1	-	0	282_284																				lung(4)	4						CGCCCTCAAAGCTGCTGCTGCCA	0.650													4	2	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29527526	29527527	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:29527526_29527527insA	ENST00000358273.4	+	9	1358_1359	c.975_976insA	c.(973-978)gtaactfs	p.T326fs	NF1_ENST00000431387.4_Frame_Shift_Ins_p.T326fs|NF1_ENST00000356175.3_Frame_Shift_Ins_p.T326fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	326					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTGCCTGTGTCAAACTGTGTAA	0.406			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			18	72	---	---	---	---					
GGNBP2	79893	broad.mit.edu	37	17	34901690	34901691	+	Frame_Shift_Ins	INS	-	-	C			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:34901690_34901691insC	ENST00000485685.2	+	2	409_410	c.117_118insC	c.(115-120)ggccgcfs	p.R40fs	GGNBP2_ENST00000304718.4_Intron			Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	0					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		gccgggctgggcccgccgcTCC	0.678													4	3	---	---	---	---					
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	RNA	DEL	A	A	-			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363													2	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76920157	76920157	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chrX:76920157delT	ENST00000373344.5	-	11	4134	c.3920delA	c.(3919-3921)atfs	p.N1307fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.N1269fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1307					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GTTTTCTTCATTTTGTTTTCC	0.373			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						44	47	---	---	---	---