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
FANCA	2175	broad.mit.edu	37	16	89849495	89849495	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr16:89849495G>A	ENST00000389301.3	-	16	1516	c.1486C>T	c.(1486-1488)Cca>Tca	p.P496S	FANCA_ENST00000568369.1_Missense_Mutation_p.P496S	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	496					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		ACCAGGGGTGGGTGGAGAATG	0.587000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				19	10					0	0	0.000175454	0	0
DNAJB5	25822	broad.mit.edu	37	9	34996725	34996725	+	Silent	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr9:34996725C>T	ENST00000541010.1	+	2	3687	c.675C>T	c.(673-675)atC>atT	p.I225I	DNAJB5_ENST00000335998.3_Silent_p.I259I|DNAJB5_ENST00000453597.3_Silent_p.I339I|DNAJB5_ENST00000545841.1_Silent_p.I225I|DNAJB5_ENST00000312316.5_Silent_p.I225I|DNAJB5_ENST00000454002.2_Silent_p.I297I			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	225					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			GCACCAAGATCACCTTCCCCA	0.567000													11	9					0	0	0.00010058	0	0
CASR	846	broad.mit.edu	37	3	121973101	121973101	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr3:121973101C>T	ENST00000498619.1	+	2	503	c.65C>T	c.(64-66)cCa>cTa	p.P22L	CASR_ENST00000296154.5_Missense_Mutation_p.P22L|CASR_ENST00000490131.1_Missense_Mutation_p.P22L	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	22					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCCTACGGGCCAGACCAGCGA	0.537000													46	64					0	0	0.000147903	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76501288	76501288	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr16:76501288C>T	ENST00000307431.8	+	11	1905	c.1520C>T	c.(1519-1521)cCa>cTa	p.P507L	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P435L|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P459L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.P511L	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	508	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGTAAAAGTCCACTTGGTGGA	0.418000													48	14					0	0	0.000147903	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5191880	5191880	+	Silent	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr5:5191880C>T	ENST00000274181.7	+	8	1428	c.1290C>T	c.(1288-1290)acC>acT	p.T430T	ADAMTS16_ENST00000511368.1_Silent_p.T430T	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	430	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.T430K(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGGCCTTCACCATTGCCCATG	0.443000													62	83					0	0	0.000147903	0	0
MIR573	693158	broad.mit.edu	37	4	24521913	24521913	+	RNA	SNP	A	A	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr4:24521913A>T	ENST00000384964.1	-	0	0					NR_030299.1																						AAACCGCTAAAGCAGCCGACA	0.393000													47	92					0	0	0.000147903	0	0
NEK5	341676	broad.mit.edu	37	13	52639643	52639643	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr13:52639643G>A	ENST00000355568.4	-	22	2166	c.2027C>T	c.(2026-2028)tCc>tTc	p.S676F		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	676							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GGGGCAGGTGGAGGTGATGTC	0.592000													31	42					0	0	0.000227799	0	0
CNR2	1269	broad.mit.edu	37	1	24201505	24201505	+	Silent	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:24201505G>A	ENST00000536471.1	-	3	861	c.603C>T	c.(601-603)ctC>ctT	p.L201L	CNR2_ENST00000374472.4_Silent_p.L201L			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	201					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	TTCCGGAAAAGAGGAAGGCGA	0.572000													13	18					0	0	0.000151284	0	0
KCNQ1	3784	broad.mit.edu	37	11	2593264	2593264	+	Silent	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr11:2593264C>T	ENST00000155840.5	+	5	813	c.705C>T	c.(703-705)atC>atT	p.I235I	KCNQ1_ENST00000335475.5_Silent_p.I108I	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	235					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TCCTGCAGATCCTGAGGATGC	0.687000													91	37					0	0	0.000147903	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870105	51870105	+	Silent	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr20:51870105C>T	ENST00000371497.5	+	2	995	c.108C>T	c.(106-108)agC>agT	p.S36S	TSHZ2_ENST00000603338.2_Silent_p.S33S|TSHZ2_ENST00000329613.6_Silent_p.S33S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	36					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S36S(1)		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)			aggaggaCAGCGGTTCAGTAG	0.527000													13	4					0	0	0.000151284	0	0
ROS1	6098	broad.mit.edu	37	6	117714445	117714445	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr6:117714445C>T	ENST00000368508.3	-	11	1402	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K	ROS1_ENST00000368507.3_Missense_Mutation_p.E411K|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	402					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGAGTAATTTCCTCGATGTTT	0.363000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								154	306					0	0	0.000147903	0	0
ETAA1	54465	broad.mit.edu	37	2	67630986	67630986	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr2:67630986C>T	ENST00000272342.5	+	5	1302	c.1172C>T	c.(1171-1173)cCt>cTt	p.P391L	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	391						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GGTAGTGAACCTTTTGCTATG	0.348000													5	100					0	0	1.23904e-05	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671550	39671550	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr21:39671550G>C	ENST00000398930.1	+	4	721	c.367G>C	c.(367-369)Gaa>Caa	p.E123Q	KCNJ15_ENST00000398938.2_Missense_Mutation_p.E123Q|KCNJ15_ENST00000398932.1_Missense_Mutation_p.E123Q|KCNJ15_ENST00000398934.1_Missense_Mutation_p.E123Q|KCNJ15_ENST00000328656.3_Missense_Mutation_p.E123Q			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	123					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						CTTTTCCCTGGAATCCCAGAC	0.493000													5	104					0	0	1.23904e-05	0	0
ZNF385A	25946	broad.mit.edu	37	12	54764795	54764795	+	Silent	SNP	C	C	T	rs143375749	byFrequency	TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr12:54764795C>T	ENST00000546970.1	-	7	979	c.690G>A	c.(688-690)ggG>ggA	p.G230G	ZNF385A_ENST00000551109.1_Silent_p.G230G|ZNF385A_ENST00000394313.2_Silent_p.G230G|RP11-753H16.5_ENST00000552785.1_RNA|ZNF385A_ENST00000352268.6_Silent_p.G169G|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000338010.5_Silent_p.G250G|ZNF385A_ENST00000551771.1_Silent_p.G149G			Q96PM9	Z385A_HUMAN	zinc finger protein 385A	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						CCTCTGGTTCCCCCGGGGTGG	0.597000													50	77					0	0	0.000147903	0	0
SYT15	83849	broad.mit.edu	37	10	46969424	46969424	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr10:46969424T>A	ENST00000374325.3	-	2	189	c.37A>T	c.(37-39)Atc>Ttc	p.I13F	SYT15_ENST00000503753.1_Missense_Mutation_p.I13F|SYT15_ENST00000374321.4_Missense_Mutation_p.I13F|SYT15_ENST00000374323.3_Intron	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	13						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						AGCCCCCCGATGGTGCCCCCA	0.637000													7	2					0	0	0.000157383	0	0
SCN9A	6335	broad.mit.edu	37	2	167138193	167138193	+	Silent	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr2:167138193C>T	ENST00000375387.4	-	13	2443	c.2103G>A	c.(2101-2103)gtG>gtA	p.V701V	SCN9A_ENST00000409435.1_Silent_p.V700V|SCN9A_ENST00000303354.6_Silent_p.V701V|SCN9A_ENST00000409672.1_Silent_p.V689V|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	700						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ACATACCTTCCACAGTGTTTG	0.348000													38	32					0	0	0.000228196	0	0
GCNT4	51301	broad.mit.edu	37	5	74324725	74324725	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr5:74324725G>C	ENST00000322348.4	-	1	1999	c.1138C>G	c.(1138-1140)Ccc>Gcc	p.P380A		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	380					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		GTACAACTGGGATAGAAAAAG	0.428000													31	29					0	0	0.000227799	0	0
ANK3	288	broad.mit.edu	37	10	61835300	61835300	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr10:61835300G>A	ENST00000280772.1	-	37	5530	c.5339C>T	c.(5338-5340)tCa>tTa	p.S1780L	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1780	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGAAACATATGACCTGAGTGG	0.473000													47	36					0	0	0.000147903	0	0
LRP5	4041	broad.mit.edu	37	11	68192666	68192666	+	Silent	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr11:68192666C>T	ENST00000294304.7	+	15	3439	c.3333C>T	c.(3331-3333)ctC>ctT	p.L1111L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1111	Beta-propeller 4.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCACCGGCCTCATCCGCCCTG	0.637000													17	6					0	0	9.7654e-05	0	0
RHPN2	85415	broad.mit.edu	37	19	33493205	33493205	+	Missense_Mutation	SNP	G	G	C	rs150626917	by1000genomes	TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr19:33493205G>C	ENST00000254260.3	-	9	1088	c.1053C>G	c.(1051-1053)caC>caG	p.H351Q	RHPN2_ENST00000400226.4_Missense_Mutation_p.H200Q	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	351	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GGGCCGCGTAGTGGTGGGCCT	0.632000													4	39					0	0	0.000157383	0	0
PHOX2B	8929	broad.mit.edu	37	4	41750451	41750451	+	Silent	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr4:41750451G>A	ENST00000226382.2	-	1	536	c.177C>T	c.(175-177)tcC>tcT	p.S59S	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	59					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CCGGCGTGAGGGAAGGGCAGC	0.622000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				14	26					0	0	0.000308642	0	0
C11orf70	85016	broad.mit.edu	37	11	101929619	101929619	+	Silent	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr11:101929619C>T	ENST00000434758.2	+	3	229	c.201C>T	c.(199-201)ttC>ttT	p.F67F	C11orf70_ENST00000534360.1_Silent_p.F67F|C11orf70_ENST00000526781.1_Silent_p.F67F	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	67										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		AGGCTTTTTTCAAAGACCCAA	0.239000													26	10					0	0	0.000409698	0	0
MYO18B	84700	broad.mit.edu	37	22	26294364	26294364	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr22:26294364G>A	ENST00000335473.7	+	29	5009	c.4759G>A	c.(4759-4761)Gat>Aat	p.D1587N	MYO18B_ENST00000407587.2_Missense_Mutation_p.D1588N|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.D1587N|CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000453457.2_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000600903.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1587	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGACCTTGAGGATACCTGCGT	0.512000													29	100					0	0	0.000184323	0	0
DSCAM	1826	broad.mit.edu	37	21	41385240	41385240	+	Silent	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr21:41385240C>T	ENST00000400454.1	-	33	6237	c.5760G>A	c.(5758-5760)agG>agA	p.R1920R		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1920				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGCTCAGGTCCCTGCTGGTGC	0.547000													22	44					0	0	9.22233e-05	0	0
SP140	11262	broad.mit.edu	37	2	231157400	231157400	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr2:231157400G>T	ENST00000392045.3	+	20	1979	c.1865G>T	c.(1864-1866)tGg>tTg	p.W622L	SP140_ENST00000486687.2_Missense_Mutation_p.W546L|SP140_ENST00000420434.3_Missense_Mutation_p.W595L|SP140_ENST00000350136.5_Missense_Mutation_p.W491L|SP140_ENST00000417495.3_Missense_Mutation_p.W508L|SP140_ENST00000343805.6_Missense_Mutation_p.W562L	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	622	SAND.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GATGGAAAATGGTTCACCCCC	0.517000													48	23					3.70713e-34	1.13495e-32	0.000147903	1	0
LSR	51599	broad.mit.edu	37	19	35741440	35741440	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr19:35741440G>A	ENST00000602122.1	+	2	963	c.476G>A	c.(475-477)gGc>gAc	p.G159D	LSR_ENST00000354900.3_Missense_Mutation_p.G159D|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000361790.3_Missense_Mutation_p.G159D|LSR_ENST00000360798.3_Missense_Mutation_p.G159D|LSR_ENST00000347609.4_Missense_Mutation_p.G122D|LSR_ENST00000427250.1_Missense_Mutation_p.G111D			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	159	Ig-like V-type.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGGAACCCAGGCTACAACCCC	0.637000													19	19					0	0	0.000132079	0	0
GABRP	2568	broad.mit.edu	37	5	170222403	170222403	+	Silent	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr5:170222403C>T	ENST00000518525.1	+	6	896	c.432C>T	c.(430-432)tcC>tcT	p.S144S	GABRP_ENST00000519598.1_Silent_p.S144S|GABRP_ENST00000265294.4_Silent_p.S144S|GABRP_ENST00000519385.1_Silent_p.S144S			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	144						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCCTCTTCTCCAATGGCACGG	0.552000													24	31					0	0	0.000117367	0	0
LONRF2	164832	broad.mit.edu	37	2	100903486	100903486	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr2:100903486C>T	ENST00000393437.3	-	11	2599	c.1960G>A	c.(1960-1962)Gat>Aat	p.D654N	LONRF2_ENST00000409647.1_Missense_Mutation_p.D411N	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	654	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TGCACAGAATCGTGGAGAGCG	0.478000													12	2					0	0	6.40141e-05	0	0
NLRP7	199713	broad.mit.edu	37	19	55450410	55450410	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr19:55450410C>T	ENST00000588756.1	-	6	2263	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K	NLRP7_ENST00000328092.5_Missense_Mutation_p.E593K|NLRP7_ENST00000340844.2_Missense_Mutation_p.E593K|NLRP7_ENST00000592784.1_Missense_Mutation_p.E593K|NLRP7_ENST00000448121.2_Missense_Mutation_p.E593K|NLRP7_ENST00000590030.1_Missense_Mutation_p.E593K|NLRP7_ENST00000446217.1_Missense_Mutation_p.E621K			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	593							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		ATAGAAATTTCCTTGAACGGG	0.493000													20	34					0	0	0.000132079	0	0
DNAJB11	51726	broad.mit.edu	37	3	186303137	186303137	+	Silent	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr3:186303137C>T	ENST00000439351.1	+	11	1946	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	DNAJB11_ENST00000265028.3_Silent_p.I339I			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	339					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		CTTCAGGTATCAAACAGCTAC	0.328000													17	34					0	0	7.07596e-05	0	0
SYNE1	23345	broad.mit.edu	37	6	152746629	152746629	+	Silent	SNP	T	T	C			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr6:152746629T>C	ENST00000367255.5	-	39	5755	c.5154A>G	c.(5152-5154)caA>caG	p.Q1718Q	SYNE1_ENST00000423061.1_Silent_p.Q1725Q|SYNE1_ENST00000448038.1_Silent_p.Q1725Q|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Silent_p.Q1718Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1718					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTCCTTCAATTGCAAAAGTT	0.388000										HNSCC(10;0.0054)			30	79					0	0	0.000227799	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37488708	37488708	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr10:37488708G>A	ENST00000374660.1	+	36	3058	c.2959G>A	c.(2959-2961)Gat>Aat	p.D987N	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.D868N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D868N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1021						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAATTCTTGGGATTCTGAGGT	0.299000													12	15					0	0	5.01169e-05	0	0
STK31	56164	broad.mit.edu	37	7	23809348	23809348	+	Silent	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr7:23809348C>T	ENST00000354639.3	+	13	2081	c.1617C>T	c.(1615-1617)gtC>gtT	p.V539V	STK31_ENST00000433467.2_Silent_p.V562V|STK31_ENST00000355870.3_Silent_p.V562V|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Silent_p.V539V	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	562							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGTCAAGTGTCTGCAAAGAGC	0.383000													58	105					0	0	0.000147903	0	0
ATP2A3	489	broad.mit.edu	37	17	3844872	3844872	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr17:3844872G>A	ENST00000309890.7	-	13	1772	c.1622C>T	c.(1621-1623)tCc>tTc	p.S541F	ATP2A3_ENST00000359983.3_Missense_Mutation_p.S541F|ATP2A3_ENST00000352011.3_Missense_Mutation_p.S541F|ATP2A3_ENST00000397043.3_Missense_Mutation_p.S541F|ATP2A3_ENST00000397035.3_Missense_Mutation_p.S541F|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397041.3_Missense_Mutation_p.S541F	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	541					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CTGCTCCCTGGAGGTGGGGGT	0.682000													25	19					0	0	5.49717e-05	0	0
IQCF3	401067	broad.mit.edu	37	3	51864457	51864457	+	Silent	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr3:51864457G>A	ENST00000456080.1	+	8	1270	c.105G>A	c.(103-105)aaG>aaA	p.K35K	IQCF3_ENST00000446775.1_Silent_p.K35K|IQCF3_ENST00000444293.1_Intron|IQCF3_ENST00000440739.2_Silent_p.K35K|IQCF3_ENST00000437810.2_Silent_p.K35K|IQCF3_ENST00000462079.1_3'UTR			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	35										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAAGGGTGAAGGCAGCTGGGC	0.572000													12	37					0	0	0.000151284	0	0
ADAM29	11086	broad.mit.edu	37	4	175897512	175897512	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr4:175897512C>T	ENST00000359240.3	+	5	1506	c.836C>T	c.(835-837)cCc>cTc	p.P279L	ADAM29_ENST00000404450.4_Missense_Mutation_p.P279L|ADAM29_ENST00000514159.1_Missense_Mutation_p.P279L|ADAM29_ENST00000445694.1_Missense_Mutation_p.P279L	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	279	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AACATTACGCCCCGGATGCAA	0.433000													40	65					0	0	0.000228196	0	0
CABIN1	23523	broad.mit.edu	37	22	24573553	24573553	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr22:24573553C>A	ENST00000398319.2	+	36	6672	c.6287C>A	c.(6286-6288)cCa>cAa	p.P2096Q	CABIN1_ENST00000263119.5_Missense_Mutation_p.P2096Q|CABIN1_ENST00000405822.2_Missense_Mutation_p.P2017Q|CABIN1_ENST00000337989.7_Missense_Mutation_p.P466Q	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2096					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGCTCTCCCCCAACAGCTGCC	0.662000													6	90					8.12818e-05	0.00239631	8.12818e-05	1	0
TNRC6B	23112	broad.mit.edu	37	22	40676048	40676048	+	Silent	SNP	C	C	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr22:40676048C>A	ENST00000454349.2	+	10	3523	c.3312C>A	c.(3310-3312)ctC>ctA	p.L1104L	TNRC6B_ENST00000301923.9_Silent_p.L357L|TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000402203.1_Silent_p.L357L|TNRC6B_ENST00000335727.8_Silent_p.L1051L	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1104					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CGATGAATCTCGGGGATTTTA	0.423000													8	582					0.00010058	0.00294344	0.00010058	1	0
OR2D2	120776	broad.mit.edu	37	11	6913201	6913201	+	Silent	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr11:6913201G>A	ENST00000299459.2	-	1	629	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCTCACAAAAGAAATGAGCAA	0.493000													14	6					0	0	0.000308642	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	40					0	0	0.00024832	0	0
CD163	9332	broad.mit.edu	37	12	7640410	7640410	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr12:7640410C>T	ENST00000359156.4	-	7	1896	c.1694G>A	c.(1693-1695)gGa>gAa	p.G565E	CD163_ENST00000541972.1_Missense_Mutation_p.G553E|CD163_ENST00000432237.2_Missense_Mutation_p.G565E|CD163_ENST00000396620.3_Missense_Mutation_p.G565E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	565	SRCR 5.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GCTACAAGTTCCTTCTGGGCG	0.498000													35	49					0	0	0.000270559	0	0
LY9	4063	broad.mit.edu	37	1	160766021	160766021	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:160766021C>T	ENST00000263285.5	+	1	74	c.44C>T	c.(43-45)cCt>cTt	p.P15L	LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368039.2_Missense_Mutation_p.P15L|LY9_ENST00000368041.2_5'UTR|LY9_ENST00000341032.4_Missense_Mutation_p.P15L	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	15					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCTCCTGGGCCTTTCTCCAGT	0.493000													37	42					0	0	8.91981e-05	0	0
MMRN1	22915	broad.mit.edu	37	4	90872795	90872795	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr4:90872795G>A	ENST00000394980.1	+	8	3477	c.3158G>A	c.(3157-3159)gGg>gAg	p.G1053E	MMRN1_ENST00000508372.1_Missense_Mutation_p.G795E|MMRN1_ENST00000394981.1_Missense_Mutation_p.G356E|MMRN1_ENST00000264790.2_Missense_Mutation_p.G1053E			Q13201	MMRN1_HUMAN	multimerin 1	1053	EGF-like.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TGCCAAAATGGGGGCACGTGC	0.423000													19	34					0	0	9.7654e-05	0	0
ZBTB22	9278	broad.mit.edu	37	6	33284312	33284312	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr6:33284312G>A	ENST00000431845.2	-	2	533	c.382C>T	c.(382-384)Ctt>Ttt	p.L128F	ZBTB22_ENST00000418724.1_Missense_Mutation_p.L128F	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CCCACTGTAAGGAAGTTGACA	0.577000													57	121					0	0	0.000147903	0	0
DCAF11	80344	broad.mit.edu	37	14	24587609	24587609	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr14:24587609G>A	ENST00000446197.3	+	7	1317	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	DCAF11_ENST00000396936.1_Missense_Mutation_p.R97Q|DCAF11_ENST00000560171.1_3'UTR|DCAF11_ENST00000559115.1_Missense_Mutation_p.R197Q|DCAF11_ENST00000396941.4_Missense_Mutation_p.R171Q	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	197						CUL4 RING ubiquitin ligase complex	protein binding										CAGACAATCCGACTCTATGAC	0.493000													69	120					0	0	0.000147903	0	0
OR14I1	401994	broad.mit.edu	37	1	248845069	248845069	+	Silent	SNP	G	G	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:248845069G>T	ENST00000342623.3	-	1	560	c.537C>A	c.(535-537)atC>atA	p.I179I		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						ACACATGAGGGATGTCACGGA	0.512000													9	22					2.17888e-05	0.000652025	2.17888e-05	1	0
IL5RA	3568	broad.mit.edu	37	3	3139902	3139902	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr3:3139902C>T	ENST00000446632.2	-	6	1014	c.440G>A	c.(439-441)aGg>aAg	p.R147K	IL5RA_ENST00000430514.2_Missense_Mutation_p.R147K|IL5RA_ENST00000383846.1_Missense_Mutation_p.R147K|IL5RA_ENST00000418488.2_Missense_Mutation_p.R147K|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000256452.3_Missense_Mutation_p.R147K|IL5RA_ENST00000311981.8_Missense_Mutation_p.R147K|IL5RA_ENST00000438560.1_Missense_Mutation_p.R147K|IL5RA_ENST00000456302.1_Missense_Mutation_p.R147K	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	147					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		TTGGTATGACCTTAAACGTGA	0.413000													21	41					0	0	0.000295444	0	0
OR2G6	391211	broad.mit.edu	37	1	248685628	248685628	+	Silent	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:248685628G>A	ENST00000343414.4	+	1	713	c.681G>A	c.(679-681)agG>agA	p.R227R		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGTGTTAAGGATAAAATCAG	0.463000													67	48					0	0	0.000147903	0	0
ATRNL1	26033	broad.mit.edu	37	10	117001410	117001410	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr10:117001410T>G	ENST00000355044.3	+	10	1709	c.1583T>G	c.(1582-1584)cTt>cGt	p.L528R		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	528						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCAGCTGTTCTTATCAATGGA	0.358000													26	26					0	0	0.000279167	0	0
OR2F1	26211	broad.mit.edu	37	7	143657992	143657992	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr7:143657992G>A	ENST00000392899.1	+	1	966	c.929G>A	c.(928-930)gGg>gAg	p.G310E		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AAATTCTCTGGGTTAACATCA	0.428000													19	32					0	0	0.000175454	0	0
BRINP3	339479	broad.mit.edu	37	1	190250829	190250829	+	Silent	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:190250829G>A	ENST00000367462.3	-	3	519	c.288C>T	c.(286-288)ttC>ttT	p.F96F	RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000484105.1_Intron|FAM5C_ENST00000534846.1_Intron	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		96						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GAGAGCCAAGGAAATTTCTTC	0.403000													15	28					0	0	7.07596e-05	0	0
TG	7038	broad.mit.edu	37	8	133961052	133961052	+	Silent	SNP	C	C	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr8:133961052C>A	ENST00000220616.4	+	27	5305	c.5265C>A	c.(5263-5265)ccC>ccA	p.P1755P	TG_ENST00000377869.1_Silent_p.P1698P|TG_ENST00000542445.1_Silent_p.P125P	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1755					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)		TGAGCTCACCCAGTGTCCTGC	0.527000													7	193					0.000274275	0.00779725	0.000274275	1	0
SCN3B	55800	broad.mit.edu	37	11	123516298	123516298	+	Silent	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr11:123516298G>A	ENST00000392770.2	-	2	1018	c.216C>T	c.(214-216)ttC>ttT	p.F72F	SCN3B_ENST00000299333.3_Silent_p.F72F|SCN3B_ENST00000530277.1_Silent_p.F72F	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	72	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	p.F72L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		AACATACAAGGAAATCTTTAC	0.572000													35	22					0	0	0.000270559	0	0
C9	735	broad.mit.edu	37	5	39285309	39285309	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr5:39285309C>T	ENST00000263408.4	-	11	1767	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	558					complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CTCTATTTTTCATTGGGGAAC	0.408000													35	47					0	0	0.000374591	0	0
SPINT2	10653	broad.mit.edu	37	19	38782532	38782532	+	Silent	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr19:38782532C>T	ENST00000301244.7	+	7	1080	c.645C>T	c.(643-645)gcC>gcT	p.A215A	SPINT2_ENST00000587090.1_Silent_p.A165A|SPINT2_ENST00000454580.3_Silent_p.A158A|CTB-102L5.4_ENST00000591889.1_Intron	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	215					cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCTGGGAGCCTCCATGGTCT	0.632000													5	11					0	0	1.23904e-05	0	0
LRGUK	136332	broad.mit.edu	37	7	133948700	133948700	+	Silent	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr7:133948700C>T	ENST00000285928.2	+	20	2520	c.2451C>T	c.(2449-2451)ctC>ctT	p.L817L		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	817							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						AACCCACCCTCCCTCCAATCC	0.502000													6	30					0	0	8.12818e-05	0	0
SNHG14	104472715	broad.mit.edu	37	15	25429507	25429507	+	RNA	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr15:25429507C>T	ENST00000424208.1	+	0	450				SNORD115-8_ENST00000363856.1_RNA	NR_003305.1																						ACTTAAAAATCATGCTCAATA	0.517000													80	60					0	0	0.000147903	0	0
S100A9	6280	broad.mit.edu	37	1	153333147	153333147	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:153333147G>A	ENST00000368738.3	+	3	221	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K		NM_002965.3	NP_002956.1	P06702	S10A9_HUMAN	S100 calcium binding protein A9	60	EF-hand 2.				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAGGTCATAGAACACATCAT	0.542000													21	48					0	0	0.000375601	0	0
SEMA4B	10509	broad.mit.edu	37	15	90760690	90760690	+	Silent	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr15:90760690C>T	ENST00000411539.2	+	2	437	c.177C>T	c.(175-177)ttC>ttT	p.F59F	SEMA4B_ENST00000379122.3_Silent_p.F54F|SEMA4B_ENST00000332496.6_Silent_p.F59F	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AGCGGCCATTCCTCAGATTCG	0.567000													11	31					0	0	3.86212e-05	0	0
FBXO42	54455	broad.mit.edu	37	1	16577944	16577944	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:16577944G>A	ENST00000375592.3	-	10	1591	c.1375C>T	c.(1375-1377)Cct>Tct	p.P459S		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	459										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GCCTGTACAGGACTGTCCAAA	0.542000													14	11					0	0	0.000308642	0	0
ZP2	7783	broad.mit.edu	37	16	21209114	21209114	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr16:21209114C>T	ENST00000574002.1	-	19	2550	c.2068G>A	c.(2068-2070)Gaa>Aaa	p.E690K	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.E681K|ZP2_ENST00000219593.4_Missense_Mutation_p.E690K			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	690					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TCCCCTGTTTCACTCCTACTC	0.468000													58	174					0	0	0.000147903	0	0
TMEM161B	153396	broad.mit.edu	37	5	87498782	87498782	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr5:87498782G>C	ENST00000296595.6	-	9	1035	c.911C>G	c.(910-912)cCt>cGt	p.P304R	TMEM161B_ENST00000506536.1_Missense_Mutation_p.P122R|TMEM161B_ENST00000514135.1_Missense_Mutation_p.P304R|TMEM161B_ENST00000509387.1_Missense_Mutation_p.P177R|TMEM161B_ENST00000511218.1_Missense_Mutation_p.P122R|TMEM161B_ENST00000512429.1_Missense_Mutation_p.P293R	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	304						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		TACTTACAAAGGGATACTTTC	0.368000													44	76					0	0	0.000147903	0	0
PCDH17	27253	broad.mit.edu	37	13	58298998	58298998	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr13:58298998C>T	ENST00000377918.3	+	4	3076	c.3050C>T	c.(3049-3051)cCt>cTt	p.P1017L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1017					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AACGTTAAACCTTATTTAAAA	0.478000													24	44					0	0	0.000375601	0	0
CHD2	1106	broad.mit.edu	37	15	93492257	93492257	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr15:93492257C>T	ENST00000394196.4	+	13	2521	c.1453C>T	c.(1453-1455)Cga>Tga	p.R485*	CHD2_ENST00000536619.1_Nonsense_Mutation_p.R498*|CHD2_ENST00000420239.2_Nonsense_Mutation_p.R485*|CHD2_ENST00000557381.1_Nonsense_Mutation_p.R485*	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	485					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)			TCTGGAACTTCGAGATTATCA	0.413000													120	79					0	0	0.000147903	0	0
PRDM1	639	broad.mit.edu	37	6	106554799	106554799	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr6:106554799G>A	ENST00000369096.4	+	7	2150	c.1916G>A	c.(1915-1917)aGa>aAa	p.R639K	PRDM1_ENST00000369089.3_Missense_Mutation_p.R505K|PRDM1_ENST00000369091.2_Missense_Mutation_p.R603K	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	639					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TGCCACAAGAGATTTAGCAGC	0.542000			"""D, N, Mis, F, S"""		DLBCL								23	41					0	0	9.22233e-05	0	0
RPS15A	6210	broad.mit.edu	37	16	18796142	18796142	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr16:18796142C>A	ENST00000322989.4	-	4	312	c.217G>T	c.(217-219)Ggg>Tgg	p.G73W	RPS15A_ENST00000565420.1_Missense_Mutation_p.G73W|RPS15A_ENST00000576436.1_Missense_Mutation_p.W105L|RPS15A_ENST00000575669.1_5'UTR|RPS15A_ENST00000563390.1_Missense_Mutation_p.G73W|RPS15A_ENST00000569083.1_Missense_Mutation_p.G73W	NM_001019.4	NP_001010.2	P62244	RS15A_HUMAN	ribosomal protein S15a	73					endocrine pancreas development|positive regulation of cell cycle|positive regulation of cell proliferation|response to virus|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)	2						CTGATCACCCCACACTATAAA	0.393000													8	234					0.000157383	0.00453903	0.000157383	1	0
OTX2	5015	broad.mit.edu	37	14	57268611	57268611	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr14:57268611G>A	ENST00000339475.5	-	5	1012	c.736C>T	c.(736-738)Ctt>Ttt	p.L246F	OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000555006.1_Missense_Mutation_p.L238F|OTX2_ENST00000408990.3_Missense_Mutation_p.L238F	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	238					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					TGGGTGGAAAGAGAAGCTGGG	0.507000													31	55					0	0	0.000109025	0	0
CCAR1	55749	broad.mit.edu	37	10	70502219	70502219	+	Silent	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr10:70502219C>T	ENST00000265872.6	+	6	530	c.411C>T	c.(409-411)tcC>tcT	p.S137S	CCAR1_ENST00000535016.1_Silent_p.S122S|CCAR1_ENST00000543719.1_Silent_p.S122S	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	137					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CACCAAGGTCCAGTCAACAGC	0.438000													32	20					0	0	0.000409698	0	0
KDELC1	79070	broad.mit.edu	37	13	103449154	103449154	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr13:103449154C>T	ENST00000376004.4	-	2	724	c.388_splice	c.e2+1	p.G130_splice	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	130						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TCCAAATTACCTTTTAAAATA	0.269000													14	21					0	0	0.000219431	0	0
SCN5A	6331	broad.mit.edu	37	3	38628959	38628959	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr3:38628959T>G	ENST00000413689.1	-	15	2561	c.2368A>C	c.(2368-2370)Atc>Ctc	p.I790L	SCN5A_ENST00000450102.2_Missense_Mutation_p.I790L|SCN5A_ENST00000449557.2_Missense_Mutation_p.I790L|SCN5A_ENST00000455624.2_Missense_Mutation_p.I790L|SCN5A_ENST00000423572.2_Missense_Mutation_p.I790L|SCN5A_ENST00000443581.1_Missense_Mutation_p.I790L|SCN5A_ENST00000451551.2_Missense_Mutation_p.I790L|SCN5A_ENST00000333535.4_Missense_Mutation_p.I790L|SCN5A_ENST00000414099.2_Missense_Mutation_p.I790L|SCN5A_ENST00000425664.1_Missense_Mutation_p.I790L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	790					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGGCTAAGGATGACGATGATG	0.567000													9	16					0	0	0.000274275	0	0
C1QA	712	broad.mit.edu	37	1	22965688	22965688	+	Missense_Mutation	SNP	G	G	A	rs45454296		TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:22965688G>A	ENST00000374642.3	+	3	730	c.526G>A	c.(526-528)Gtc>Atc	p.V176I	C1QA_ENST00000402322.1_Missense_Mutation_p.V176I	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	176	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCTGTCCATCGTCTCCTCCTC	0.602000													22	34					0	0	9.22233e-05	0	0
DNAH5	1767	broad.mit.edu	37	5	13823435	13823435	+	Silent	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr5:13823435G>A	ENST00000265104.4	-	40	6728	c.6624C>T	c.(6622-6624)ctC>ctT	p.L2208L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2208					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TATTTGGAAAGAGATCTTCAA	0.383000									Kartagener syndrome				56	89					0	0	0.000147903	0	0
ATP2A1	487	broad.mit.edu	37	16	28909731	28909731	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr16:28909731G>A	ENST00000395503.4	+	14	1907	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K	ATP2A1_ENST00000357084.3_Missense_Mutation_p.E575K|ATP2A1_ENST00000536376.1_Missense_Mutation_p.E450K	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	575					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GAAGCGAGAGGAAATGGTCCT	0.637000													8	5					0	0	0.000157383	0	0
GBP5	115362	broad.mit.edu	37	1	89732246	89732246	+	Silent	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:89732246G>A	ENST00000343435.5	-	7	1187	c.651C>T	c.(649-651)ttC>ttT	p.F217F	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000481145.1_5'UTR|GBP5_ENST00000370459.3_Silent_p.F217F	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	217						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GGGGCAAATTGAAATTTTGAA	0.328000													35	62					0	0	0.000191422	0	0
EGFR	1956	broad.mit.edu	37	7	55268925	55268925	+	Silent	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr7:55268925C>T	ENST00000275493.2	+	25	3168	c.2991C>T	c.(2989-2991)ttC>ttT	p.F997F	EGFR_ENST00000455089.1_Silent_p.F952F|EGFR_ENST00000454757.2_Silent_p.F944F|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	997					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ACTCCAACTTCTACCGTGCCC	0.527000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			45	66					0	0	8.96297e-05	0	0
UGT3A1	133688	broad.mit.edu	37	5	35991310	35991310	+	Silent	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr5:35991310G>A	ENST00000274278.3	-	1	390	c.33C>T	c.(31-33)gcC>gcT	p.A11A	UGT3A1_ENST00000333811.4_Intron|UGT3A1_ENST00000503189.1_Silent_p.A11A|UGT3A1_ENST00000507113.1_Silent_p.A11A|UGT3A1_ENST00000513233.1_5'UTR	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	11						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAGAAGGAAGGCCACTAGAA	0.602000													20	42					0	0	0.000175454	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				32	46					0	0	7.24521e-05	0	0
ELMOD1	55531	broad.mit.edu	37	11	107506367	107506367	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr11:107506367G>A	ENST00000265840.7	+	6	561	c.296G>A	c.(295-297)gGa>gAa	p.G99E	ELMOD1_ENST00000531234.1_Missense_Mutation_p.G93E|ELMOD1_ENST00000443271.2_Missense_Mutation_p.G99E	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	99					phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CCTAGGCTGGGAATCTCTCTT	0.433000													74	24					0	0	0.000147903	0	0
ILF2	3608	broad.mit.edu	37	1	153636877	153636877	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:153636877C>G	ENST00000361891.4	-	9	776	c.651G>C	c.(649-651)caG>caC	p.Q217H	ILF2_ENST00000480213.1_5'UTR	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	217	DZF.				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCACGTGGACTGAGAAGCAT	0.443000													21	61					0	0	0.000375601	0	0
MAP3K3	4215	broad.mit.edu	37	17	61744314	61744314	+	Silent	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr17:61744314C>T	ENST00000361357.3	+	7	807	c.489C>T	c.(487-489)ccC>ccT	p.P163P	MAP3K3_ENST00000579585.1_Silent_p.P163P|MAP3K3_ENST00000577395.1_Silent_p.P132P|MAP3K3_ENST00000361733.3_Silent_p.P132P|MAP3K3_ENST00000584573.1_Silent_p.P163P	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	132					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						GTTCCTCTCCCCACTCTGGGG	0.527000													22	50					0	0	0.000375601	0	0
DNAH17	8632	broad.mit.edu	37	17	76510915	76510915	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr17:76510915C>T	ENST00000389840.5	-	26	4166	c.4042G>A	c.(4042-4044)Gag>Aag	p.E1348K	DNAH17_ENST00000585328.1_Missense_Mutation_p.E1349K					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTCTGCAGCTCGCTCACGGCA	0.622000													24	32					0	0	0.000375601	0	0
TICAM1	148022	broad.mit.edu	37	19	4817244	4817244	+	Silent	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr19:4817244G>A	ENST00000248244.5	-	2	1375	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	382					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB 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|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGGAGGAAGGGAACAGGGAGG	0.572000													15	37					0	0	5.01169e-05	0	0
PM20D1	148811	broad.mit.edu	37	1	205814680	205814680	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:205814680G>A	ENST00000367136.4	-	3	306	c.262C>T	c.(262-264)Cct>Tct	p.P88S	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	88						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			ACCACTGTAGGAAAGACTAGA	0.463000													16	35					0	0	0.000308642	0	0
COL3A1	1281	broad.mit.edu	37	2	189849645	189849645	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr2:189849645C>T	ENST00000304636.3	+	2	409	c.239C>T	c.(238-240)cCa>cTa	p.P80L	COL3A1_ENST00000317840.5_Missense_Mutation_p.P80L	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	80	VWFC.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CCAGAAATTCCATTTGGAGAA	0.413000													23	18					0	0	7.16444e-05	0	0
PCSK9	255738	broad.mit.edu	37	1	55525203	55525203	+	Silent	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:55525203G>A	ENST00000302118.5	+	10	1838	c.1548G>A	c.(1546-1548)ggG>ggA	p.G516G	PCSK9_ENST00000543384.1_3'UTR|PCSK9_ENST00000490692.1_Intron	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	516					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						ACGCTTTTGGGGGTGAGGGTG	0.597000													38	92					0	0	0.000228196	0	0
CACNA1B	774	broad.mit.edu	37	9	140952241	140952241	+	Silent	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr9:140952241G>A	ENST00000277549.5	+	28	4183	c.1614G>A	c.(1612-1614)aaG>aaA	p.K538K	CACNA1B_ENST00000277551.2_Silent_p.K1342K|CACNA1B_ENST00000371355.4_Silent_p.K1343K|CACNA1B_ENST00000371357.1_Silent_p.K1343K|CACNA1B_ENST00000371363.1_Silent_p.K1342K|CACNA1B_ENST00000371372.1_Silent_p.K1342K			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1342					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGCAGTGGAAGAAATACGACT	0.512000													10	4					0	0	3.86212e-05	0	0
HS1BP3	64342	broad.mit.edu	37	2	20840906	20840906	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr2:20840906T>C	ENST00000402541.1	-	3	247	c.233A>G	c.(232-234)tAc>tGc	p.Y78C	HS1BP3_ENST00000304031.3_Missense_Mutation_p.Y78C|HS1BP3_ENST00000406618.3_Missense_Mutation_p.Y78C			Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	78	PX.				cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTTTCTGGTAAAACTCCTC	0.552000													37	36					0	0	8.96297e-05	0	0
OR4A47	403253	broad.mit.edu	37	11	48510479	48510479	+	Silent	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr11:48510479G>A	ENST00000446524.1	+	1	211	c.135G>A	c.(133-135)gtG>gtA	p.V45V		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TCATTGTAGTGACCGTAACTG	0.418000													23	11					0	0	0.000117367	0	0
RFX5	5993	broad.mit.edu	37	1	151314838	151314838	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:151314838G>A	ENST00000290524.4	-	11	1853	c.1675C>T	c.(1675-1677)Ccc>Tcc	p.P559S	RFX5_ENST00000452671.2_Missense_Mutation_p.P559S|RFX5_ENST00000452513.2_Missense_Mutation_p.P519S|RFX5_ENST00000368870.2_Missense_Mutation_p.P559S	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	559						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGACCAAGGGAATTTTATCT	0.522000													54	71					0	0	0.000147903	0	0
EPHA6	285220	broad.mit.edu	37	3	96706248	96706248	+	Silent	SNP	A	A	G			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr3:96706248A>G	ENST00000389672.5	+	3	563	c.525A>G	c.(523-525)ccA>ccG	p.P175P	EPHA6_ENST00000470610.2_Silent_p.P175P|EPHA6_ENST00000542517.1_Silent_p.P81P	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	80	Ephrin-binding.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TAATGGAACCAAACCAAAACA	0.393000													52	67					0	0	0.000147903	0	0
ENPP7	339221	broad.mit.edu	37	17	77708929	77708929	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr17:77708929G>C	ENST00000328313.5	+	3	708	c.487G>C	c.(487-489)Gca>Cca	p.A163P		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	163					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AGAAGGCATCGCACACAACTA	0.587000													18	32					0	0	0.000132079	0	0
IGLV5-48	28780	broad.mit.edu	37	22	22707607	22707607	+	RNA	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr22:22707607C>T	ENST00000390293.1	+	0	195																											AGAGCCCTCCCCGGTATCTCC	0.552000													32	59					0	0	0.000227799	0	0
GSE1	23199	broad.mit.edu	37	16	85697143	85697143	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr16:85697143A>G	ENST00000253458.7	+	11	2743	c.2567A>G	c.(2566-2568)aAc>aGc	p.N856S	GSE1_ENST00000405402.2_Missense_Mutation_p.N752S|GSE1_ENST00000393243.1_Missense_Mutation_p.N783S	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein																		GAGATGAACAACAGTCCCAAC	0.557000													4	44					0	0	0.00024832	0	0
DNAH8	1769	broad.mit.edu	37	6	38998093	38998093	+	Silent	SNP	G	G	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr6:38998093G>T	ENST00000359357.3	+	91	13652	c.13398G>T	c.(13396-13398)gtG>gtT	p.V4466V	DNAH8_ENST00000441566.1_Silent_p.V4430V					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCATCACTGTGGTATATTTAC	0.478000													7	144					0.000274275	0.00779725	0.000274275	1	0
SH3RF2	153769	broad.mit.edu	37	5	145379788	145379788	+	Silent	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr5:145379788C>T	ENST00000511217.1	+	2	598	c.546C>T	c.(544-546)atC>atT	p.I182I	SH3RF2_ENST00000359120.4_Silent_p.I182I			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	182	SH3 1.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGAAGTCATCAAGCAGCTGC	0.567000													12	27					0	0	0.000151284	0	0
IL17A	3605	broad.mit.edu	37	6	52052467	52052467	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr6:52052467G>A	ENST00000340057.1	+	2	139	c.94G>A	c.(94-96)Gga>Aga	p.G32R		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	32					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					ACGAAATCCAGGATGCCCAAA	0.493000													115	199					0	0	0.000147903	0	0
PTK2	5747	broad.mit.edu	37	8	141727723	141727723	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr8:141727723C>T	ENST00000522684.1	-	23	2345	c.2116G>A	c.(2116-2118)Gga>Aga	p.G706R	PTK2_ENST00000521059.1_Missense_Mutation_p.G706R|PTK2_ENST00000519419.1_Missense_Mutation_p.G750R|PTK2_ENST00000538769.1_Missense_Mutation_p.G374R|PTK2_ENST00000519465.1_Missense_Mutation_p.G334R|PTK2_ENST00000535192.1_Missense_Mutation_p.G706R|PTK2_ENST00000395218.2_Missense_Mutation_p.G706R|PTK2_ENST00000430260.2_Missense_Mutation_p.G16R|PTK2_ENST00000517887.1_Missense_Mutation_p.G750R|PTK2_ENST00000340930.3_Missense_Mutation_p.G706R	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	706					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TCAGACCCTCCGGAGTCCCAG	0.517000													5	122					0	0	8.12818e-05	0	0
USH2A	7399	broad.mit.edu	37	1	216371818	216371818	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:216371818G>A	ENST00000366943.2	-	18	4306	c.3920C>T	c.(3919-3921)tCa>tTa	p.S1307L	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.S1307L|USH2A_ENST00000307340.3_Missense_Mutation_p.S1307L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1307	Fibronectin type-III 3.				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)		TTCTACAAATGAATGAGGACT	0.398000										HNSCC(13;0.011)			11	27					0	0	6.40141e-05	0	0
BRINP1	1620	broad.mit.edu	37	9	121971195	121971195	+	Missense_Mutation	SNP	C	C	T	rs139886257		TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr9:121971195C>T	ENST00000265922.3	-	7	1408	c.947G>A	c.(946-948)cGc>cAc	p.R316H		NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		316					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCTGGGGAGGCGCTTCATAAA	0.512000													18	14					0	0	0.000295444	0	0
FAM47C	442444	broad.mit.edu	37	X	37029045	37029045	+	Silent	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chrX:37029045C>T	ENST00000358047.3	+	1	2614	c.2562C>T	c.(2560-2562)gaC>gaT	p.D854D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	854										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AACTCCGTGACTTCAAGTGGG	0.443000													48	16					0	0	0.000147903	0	0
ACSM2A	123876	broad.mit.edu	37	16	20494476	20494476	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr16:20494476G>A	ENST00000573854.1	+	13	1720	c.1606G>A	c.(1606-1608)Gcc>Acc	p.A536T	ACSM2A_ENST00000396104.2_Missense_Mutation_p.A536T|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A536T|ACSM2A_ENST00000536134.1_Missense_Mutation_p.A308T|ACSM2A_ENST00000575690.1_Missense_Mutation_p.A536T|ACSM2A_ENST00000417235.2_Missense_Mutation_p.A457T	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	536					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GTCAGTGACAGCCCCATACAA	0.488000													32	122					0	0	0.000270559	0	0
UNC79	57578	broad.mit.edu	37	14	94158220	94158220	+	Silent	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr14:94158220G>A	ENST00000553484.1	+	48	7735	c.7581G>A	c.(7579-7581)gcG>gcA	p.A2527A	UNC79_ENST00000256339.4_Silent_p.A2328A|UNC79_ENST00000555664.1_Silent_p.A2466A|UNC79_ENST00000393151.2_Silent_p.A2505A			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2505						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCTTCACGGCGATACTGACAG	0.473000													53	69					0	0	0.000147903	0	0
PTPRD	5789	broad.mit.edu	37	9	8460523	8460523	+	Silent	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr9:8460523G>A	ENST00000381196.4	-	30	4306	c.3763C>T	c.(3763-3765)Ctg>Ttg	p.L1255L	PTPRD_ENST00000355233.5_Silent_p.L844L|PTPRD_ENST00000358503.5_Silent_p.L1233L|PTPRD_ENST00000360074.4_Silent_p.L1242L|PTPRD_ENST00000397617.3_Silent_p.L834L|PTPRD_ENST00000540109.1_Silent_p.L1255L|PTPRD_ENST00000356435.5_Silent_p.L1255L|PTPRD_ENST00000397606.3_Silent_p.L834L|PTPRD_ENST00000537002.1_Silent_p.L841L|PTPRD_ENST00000397611.3_Silent_p.L841L|PTPRD_ENST00000486161.1_Silent_p.L844L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1255					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.L1255M(2)|p.L726M(1)|p.L844M(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGCGGATCCAGATCCATTGAC	0.438000										TSP Lung(15;0.13)			25	22					0	0	0.000117367	0	0
FAM194A	131831	broad.mit.edu	37	3	150396229	150396229	+	Silent	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr3:150396229G>A	ENST00000295910.6	-	10	1276	c.1224C>T	c.(1222-1224)atC>atT	p.I408I	FAM194A_ENST00000491361.1_Silent_p.I262I	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	408										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CACAACAAATGATAGACATGT	0.264000													37	54					0	0	0.000437636	0	0
DACH1	1602	broad.mit.edu	37	13	72063214	72063214	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr13:72063214C>T	ENST00000305425.4	-	7	2065	c.1643G>A	c.(1642-1644)gGa>gAa	p.G548E	DACH1_ENST00000354591.4_Missense_Mutation_p.G346E|DACH1_ENST00000359684.2_Missense_Mutation_p.G600E|DACH1_ENST00000313174.7_Missense_Mutation_p.G400E	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	598					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CAGTGGTTGTCCATGCCCAGT	0.448000													93	141					0	0	0.000147903	0	0
SH3GL2	6456	broad.mit.edu	37	9	17795553	17795553	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr9:17795553G>A	ENST00000380607.4	+	9	991	c.871G>A	c.(871-873)Gat>Aat	p.D291N	SH3GL2_ENST00000537391.1_Missense_Mutation_p.D244N	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	291	SH3.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		TGTCCAAATGGATCAGCCCTG	0.473000													15	11					0	0	9.7654e-05	0	0
LIX1	167410	broad.mit.edu	37	5	96432554	96432554	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr5:96432554C>T	ENST00000274382.4	-	5	816	c.521G>A	c.(520-522)gGa>gAa	p.G174E	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	174										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		TTTTAGGCTTCCATTCCAGTG	0.428000													22	36					0	0	0.000295444	0	0
SLC9C2	284525	broad.mit.edu	37	1	173550993	173550993	+	Silent	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:173550993G>A	ENST00000367714.3	-	7	1217	c.795C>T	c.(793-795)ttC>ttT	p.F265F	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Silent_p.F163F	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	265					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TACCAATATAGAAAGTCATGT	0.318000													13	25					0	0	0.000422831	0	0
OR10A4	283297	broad.mit.edu	37	11	6898649	6898649	+	Silent	SNP	C	C	T	rs146451877		TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr11:6898649C>T	ENST00000379829.2	+	1	794	c.771C>T	c.(769-771)atC>atT	p.I257I		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCACTGCCATCCTCACGTATT	0.527000													50	17					0	0	0.000147903	0	0
TCHH	7062	broad.mit.edu	37	1	152082200	152082200	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:152082200C>T	ENST00000368804.1	-	2	3492	c.3493G>A	c.(3493-3495)Gag>Aag	p.E1165K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1165	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCCAGCTCCTGGCGCCTT	0.612000													5	12					0	0	1.23904e-05	0	0
OSBP2	23762	broad.mit.edu	37	22	31289464	31289464	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr22:31289464G>A	ENST00000332585.6	+	10	2109	c.2005G>A	c.(2005-2007)Gaa>Aaa	p.E669K	OSBP2_ENST00000535268.1_Missense_Mutation_p.E213K|OSBP2_ENST00000496575.1_3'UTR|OSBP2_ENST00000437268.2_Missense_Mutation_p.E411K|OSBP2_ENST00000382310.3_Missense_Mutation_p.E620K|OSBP2_ENST00000401475.1_Missense_Mutation_p.E302K|OSBP2_ENST00000403222.3_Missense_Mutation_p.E503K|OSBP2_ENST00000407373.1_Missense_Mutation_p.E496K|OSBP2_ENST00000446658.2_Missense_Mutation_p.E668K	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	669					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CATCCACTTAGAATTCCAGGC	0.587000													24	49					0	0	0.000117367	0	0
ACSS3	79611	broad.mit.edu	37	12	81624906	81624906	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr12:81624906G>A	ENST00000548058.1	+	12	2495	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	ACSS3_ENST00000548324.1_Missense_Mutation_p.E211K|ACSS3_ENST00000261206.3_Missense_Mutation_p.E528K			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	529						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TTTATACTTTGAAAAATTTCC	0.308000													22	39					0	0	0.000229342	0	0
UGT1A8	54576	broad.mit.edu	37	2	234526865	234526865	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr2:234526865G>A	ENST00000373450.4	+	1	575	c.512G>A	c.(511-513)gGa>gAa	p.G171E		NM_019076.4	NP_061949.3														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTCGCCAGGGGAATAGCTTGC	0.473000													76	58					0	0	0.000147903	0	0
BMPER	168667	broad.mit.edu	37	7	34097684	34097684	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr7:34097684G>T	ENST00000297161.2	+	11	1315	c.941G>T	c.(940-942)tGg>tTg	p.W314L	BMPER_ENST00000426693.1_Missense_Mutation_p.W314L	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	314	VWFC 5.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GGAGAGATGTGGTCCTCTATC	0.517000													5	68					3.59834e-05	0.00106876	3.59834e-05	1	0
C2CD3	26005	broad.mit.edu	37	11	73753120	73753120	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr11:73753120G>A	ENST00000334126.7	-	29	5865	c.5639C>T	c.(5638-5640)aCc>aTc	p.T1880I	C2CD3_ENST00000313663.7_Missense_Mutation_p.T1880I			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1880						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CAGAATGGAGGTTTGGGAGGA	0.493000													38	17					0	0	0.000437636	0	0
MYT1L	23040	broad.mit.edu	37	2	1906931	1906931	+	Silent	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr2:1906931G>A	ENST00000399161.2	-	14	2700	c.1953C>T	c.(1951-1953)taC>taT	p.Y651Y	MYT1L_ENST00000428368.2_Silent_p.Y649Y	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	651					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TATGGTTGTCGTAACTGTTGT	0.478000													7	71					0	0	8.12818e-05	0	0
AFP	174	broad.mit.edu	37	4	74310728	74310728	+	Silent	SNP	T	T	C			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr4:74310728T>C	ENST00000395792.2	+	7	832	c.732T>C	c.(730-732)agT>agC	p.S244S	AFP_ENST00000226359.2_Silent_p.S244S	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	244	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTAAACTGAGTCAGAAGTTTA	0.333000									Alpha-Fetoprotein, Hereditary Persistence of				16	32					0	0	0.000308642	0	0
CACNA1A	773	broad.mit.edu	37	19	13365981	13365981	+	Silent	SNP	G	G	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr19:13365981G>A	ENST00000360228.5	-	29	4682	c.4683C>T	c.(4681-4683)ttC>ttT	p.F1561F	CACNA1A_ENST00000573710.2_Silent_p.F1562F	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1562					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.F1562F(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GAGACACCACGAACTGCCACA	0.587000													9	18					0	0	3.86212e-05	0	0
PEG3	5178	broad.mit.edu	37	19	57325403	57325403	+	Silent	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr19:57325403C>T	ENST00000326441.9	-	10	4770	c.4407G>A	c.(4405-4407)gaG>gaA	p.E1469E	PEG3_ENST00000423103.2_Silent_p.E1469E|PEG3_ENST00000593695.1_Silent_p.E1343E|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Silent_p.E1345E	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1469	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAGCTTTTCCCTCTGGCTCTT	0.527000													28	57					0	0	0.000227799	0	0
IGHV3-20	28445	broad.mit.edu	37	14	106667749	106667749	+	RNA	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr14:106667749C>T	ENST00000390606.2	-	0	244																											CCAGCCCCTTCCCTGGAGCTT	0.562000													38	52					0	0	8.96297e-05	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361499	70361499	+	Silent	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr4:70361499C>T	ENST00000305107.6	-	1	127	c.81G>A	c.(79-81)ctG>ctA	p.L27L	UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Silent_p.L27L	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	27					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.L27L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TGGGCCACACCAGCACCTTTC	0.458000													42	84					0	0	0.000147903	0	0
FSTL5	56884	broad.mit.edu	37	4	162459387	162459387	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr4:162459387C>T	ENST00000306100.5	-	10	1679	c.1243G>A	c.(1243-1245)Gca>Aca	p.A415T	FSTL5_ENST00000379164.4_Missense_Mutation_p.A414T|FSTL5_ENST00000536695.1_Missense_Mutation_p.A414T|FSTL5_ENST00000427802.2_Missense_Mutation_p.A414T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	415	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCATTCTTTGCGATACAAGTG	0.423000													55	93					0	0	0.000147903	0	0
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137803	121137805	+	RNA	DEL	CCA	CCA	-	rs60375635	by1000genomes	TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:121137803_121137805delCCA	ENST00000437515.1	-	0	329																											ACCGCCGCCGCCACGGCTTTTTG	0.645													5	3	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													2	4	---	---	---	---					
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	RNA	INS	-	-	T	rs55992531	by1000genomes	TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454																											AGTCttttttctttttttttga	0.525													3	6	---	---	---	---					
CASP8AP2	9994	broad.mit.edu	37	6	90577612	90577614	+	RNA	DEL	GAA	GAA	-			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr6:90577612_90577614delGAA	ENST00000551025.1	+	0	6040_6042							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CGTCATAATGGAAAAGTCCAATG	0.414													50	61	---	---	---	---					
MYBL1	4603	broad.mit.edu	37	8	67488453	67488453	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr8:67488453delT	ENST00000522677.3	-	10	1669	c.1259delA	c.(1258-1260)acfs	p.N420fs	MYBL1_ENST00000524176.2_Frame_Shift_Del_p.N420fs|MYBL1_ENST00000517885.1_Intron	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	420	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			ATTACAAGTGTTTTTTTTCCC	0.403													7	424	---	---	---	---					
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													4	6	---	---	---	---					
TMEM121	80757	broad.mit.edu	37	14	105996050	105996052	+	In_Frame_Del	DEL	GCC	GCC	-	rs5811180		TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr14:105996050_105996052delGCC	ENST00000392519.2	+	2	1043_1045	c.879_881delGCC	c.(877-882)gtg>gt	p.VP293del	TMEM121_ENST00000431372.1_In_Frame_Del_p.VP293del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	293	Pro-rich.					integral to membrane				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCAACTCGGTgccgccgccgccg	0.768													2	4	---	---	---	---					
CRTC3-AS1	101926895	broad.mit.edu	37	15	91190495	91190497	+	RNA	DEL	CCT	CCT	-			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr15:91190495_91190497delCCT	ENST00000559531.1	-	0	294																											cctccacacccctcctcctcaat	0.611													2	4	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102312241	102312241	+	RNA	DEL	A	A	-	rs59860046		TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr15:102312241delA	ENST00000561463.1	+	0	13609																											AGTGGCCGGGAAATTTGCTGT	0.592													11	16	---	---	---	---					
PPM1E	22843	broad.mit.edu	37	17	56833457	56833458	+	In_Frame_Ins	INS	-	-	GAACCC	rs72376816	by1000genomes	TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr17:56833457_56833458insGAACCC	ENST00000308249.2	+	1	228_229	c.99_100insGAACCC	c.(97-102)ccaacc>ccGAACCCaacc	p.32_33insPN		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	32	11 X 2 AA tandem repeats of P-E.|Glu-rich.|Pro-rich.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			agccggagccggaacccgaacc	0.673													9	26	---	---	---	---					
MIR3648-1	100500862	broad.mit.edu	37	21	9825838	9825839	+	RNA	INS	-	-	GCG	rs3052281		TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr21:9825838_9825839insGCG	ENST00000581792.1	+	0	7_8					NR_037421.1																						cggccgcgactgcggcggcggt	0.842													3	6	---	---	---	---					
