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
MYO9A	4649	broad.mit.edu	37	15	72338071	72338071	+	Silent	SNP	T	T	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr15:72338071T>C	ENST00000356056.5	-	2	1306	c.834A>G	c.(832-834)gtA>gtG	p.V278V	MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000424560.1_Silent_p.V278V|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Silent_p.V278V|MYO9A_ENST00000564571.1_Silent_p.V278V	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	278	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	p.V278V(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTACCTCAAGTACTGGTCCAG	0.388000													35	43					0	0	0.069456	0	0
FAM50B	26240	broad.mit.edu	37	6	3850910	3850910	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:3850910G>A	ENST00000380274.1	+	1	1291	c.865G>A	c.(865-867)Gcg>Acg	p.A289T	FAM50B_ENST00000380272.3_Missense_Mutation_p.A289T			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	289						nucleus		p.A289T(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CGAGTCGCACGCGGGCAAGGT	0.642000													23	56					0	0	0.083992	0	0
ITGA4	3676	broad.mit.edu	37	2	182359515	182359515	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:182359515G>A	ENST00000397033.2	+	12	1745	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	439					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.D439N(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AGGACAAATTGATGCAGATAA	0.318000													4	144					0	0	0.014758	0	0
SPTB	6710	broad.mit.edu	37	14	65253698	65253698	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr14:65253698C>T	ENST00000389722.3	-	15	3038	c.2985G>A	c.(2983-2985)agG>agA	p.R995R	SPTB_ENST00000556626.1_Silent_p.R995R|SPTB_ENST00000389721.5_Silent_p.R995R|SPTB_ENST00000389720.3_Silent_p.R995R|SPTB_ENST00000542895.1_Silent_p.R995R	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	995					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.R995R(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTGACAACTTCCTCTGGATGG	0.607000													29	82					0	0	0.037714	0	0
COL9A2	1298	broad.mit.edu	37	1	40766912	40766912	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:40766912C>G	ENST00000372748.3	-	32	2108	c.2012G>C	c.(2011-2013)gGa>gCa	p.G671A		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	671	Nonhelical region 1 (NC1).				axon guidance|skeletal system development	collagen type IX		p.G671A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GGCCGAAGCTCCAAGGCAGGC	0.677000													22	34					0	0	0.076483	0	0
GPN3	51184	broad.mit.edu	37	12	110906002	110906002	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr12:110906002G>A	ENST00000537466.2	-	1	67	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	GPN3_ENST00000228827.3_Missense_Mutation_p.R3W|GPN3_ENST00000552180.1_Intron|GPN3_ENST00000543199.1_Intron	NM_001164373.1	NP_001157845.1	Q9UHW5	GPN3_HUMAN	GPN-loop GTPase 3	3						protein complex	GTP binding	p.R3W(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|urinary_tract(1)	8						TGCGCATACCGAGGCATGTTG	0.637000													26	88					0	0	0.099896	0	0
EFHB	151651	broad.mit.edu	37	3	19938244	19938244	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:19938244G>A	ENST00000295824.9	-	9	1821	c.1660C>T	c.(1660-1662)Cac>Tac	p.H554Y	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Missense_Mutation_p.H424Y	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	554					signal transduction	proteinaceous extracellular matrix	calcium ion binding	p.H552Y(1)|p.H554Y(1)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TTCTTCAGGTGATGCCGAACT	0.458000													36	72					0	0	0.054565	0	0
VIL1	7429	broad.mit.edu	37	2	219290520	219290520	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:219290520C>T	ENST00000248444.5	+	4	421	c.333C>T	c.(331-333)ttC>ttT	p.F111F	VIL1_ENST00000440053.1_Silent_p.F111F|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	111	Core.|Necessary for homodimerization.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	p.F111F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGGCTACTTCAAGCAAGGCC	0.612000													39	30					0	0	0.092188	0	0
ECE2	9718	broad.mit.edu	37	3	184009213	184009213	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:184009213G>A	ENST00000402825.3	+	18	2461	c.2461G>A	c.(2461-2463)Gtg>Atg	p.V821M	ECE2_ENST00000404464.3_Missense_Mutation_p.V703M|ECE2_ENST00000357474.5_Missense_Mutation_p.V749M|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.V674M	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	821	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	p.V749M(1)|p.V821M(1)|p.V674M(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTCTTCTTCGTGGGATTTGC	0.587000													21	85					0	0	0.083992	0	0
FBXO8	26269	broad.mit.edu	37	4	175158643	175158643	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:175158643G>A	ENST00000393674.2	-	6	1742	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C	FBXO8_ENST00000503293.1_Missense_Mutation_p.R253C	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	294					regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity	p.R294C(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		TGAGCAGCGCGACGGGTATTT	0.383000													19	54					0	0	0.038395	0	0
FGD1	2245	broad.mit.edu	37	X	54496454	54496454	+	Missense_Mutation	SNP	C	C	A	rs140078362	by1000genomes	TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chrX:54496454C>A	ENST00000375135.3	-	4	1829	c.1096G>T	c.(1096-1098)Gtg>Ttg	p.V366L		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	366					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.V366L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGTACCTCCACAGACTCCTGT	0.542000													18	4					1.15919e-05	1.26876e-05	0.049695	1	0
S100A8	6279	broad.mit.edu	37	1	153362976	153362976	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:153362976G>A	ENST00000368733.3	-	2	205	c.36C>T	c.(34-36)atC>atT	p.I12I	S100A8_ENST00000368732.1_Silent_p.I12I|S100A8_ENST00000477801.1_5'UTR	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	12	EF-hand 1.				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding	p.I12I(1)		breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	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)			AGACGTCGATGATAGAGTTCA	0.493000													64	231					0	0	0.048971	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712541	140712541	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:140712541C>T	ENST00000517417.1	+	1	2290	c.2290C>T	c.(2290-2292)Cgg>Tgg	p.R764W	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R764W	NM_018912.2	NP_061735.1												p.R764W(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGACTCGCGGAAGAGCCA	0.582000													7	222					0	0	0.047766	0	0
TOPORS	10210	broad.mit.edu	37	9	32544237	32544237	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:32544237C>T	ENST00000360538.2	-	3	402	c.286G>A	c.(286-288)Gat>Aat	p.D96N	TOPORS_ENST00000379858.1_Missense_Mutation_p.D31N	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	96	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	p.D96N(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		GGAGATGCATCAGCTGGTACT	0.388000													7	91					0	0	0.029380	0	0
HELT	391723	broad.mit.edu	37	4	185941788	185941788	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:185941788G>A	ENST00000338875.4	+	4	846	c.846G>A	c.(844-846)ccG>ccA	p.P282P	HELT_ENST00000505610.1_Silent_p.P196P|HELT_ENST00000515777.1_Silent_p.P197P	NM_001029887.1	NP_001025058.1	A6NFD8	HELT_HUMAN	helt bHLH transcription factor	282	Pro-rich.						DNA binding	p.P282P(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CGCCAGTGCCGCTCGCTAGCC	0.741000													4	32					0	0	0.009096	0	0
LRRN4	164312	broad.mit.edu	37	20	6031458	6031458	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr20:6031458T>A	ENST00000378858.4	-	3	1051	c.827A>T	c.(826-828)gAt>gTt	p.D276V		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	276						integral to membrane		p.D276V(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						ATGTGGAGTATCTTGAAAGAT	0.483000													4	229					0	0	0.009096	0	0
SF3B1	23451	broad.mit.edu	37	2	198265453	198265453	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:198265453C>T	ENST00000335508.6	-	18	2795	c.2704G>A	c.(2704-2706)Gaa>Aaa	p.E902K		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.E902K(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTAGTCTGTTCTTGGAAAGCA	0.318000			Mis		myelodysplastic syndrome								87	37					0	0	0.048971	0	0
GNAT1	2779	broad.mit.edu	37	3	50231195	50231195	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:50231195C>T	ENST00000232461.3	+	5	573	c.459C>T	c.(457-459)tcC>tcT	p.S153S	GNAT1_ENST00000433068.1_Silent_p.S153S|GNAT1_ENST00000481246.1_3'UTR	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	153					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity	p.S153S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCTACCTCTCCGACCTGGAGC	0.726000													7	16					0	0	0.029380	0	0
RAB5A	5868	broad.mit.edu	37	3	20019815	20019815	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:20019815A>C	ENST00000273047.4	+	5	988	c.452A>C	c.(451-453)tAt>tCt	p.Y151S	RAB5A_ENST00000422242.1_Missense_Mutation_p.Y137S	NM_004162.4	NP_004153.2	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	151					blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity	p.Y151S(1)		lung(1)|urinary_tract(1)	2						GCACAGTCCTATGCAGATGAC	0.308000													58	102					0	0	0.048971	0	0
AMIGO3	386724	broad.mit.edu	37	3	49756064	49756064	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:49756064G>C	ENST00000535833.1	-	10	4285	c.835C>G	c.(835-837)Ctt>Gtt	p.L279V	RNF123_ENST00000497099.1_Intron|RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.L279V|RNF123_ENST00000327697.6_Intron|GMPPB_ENST00000480687.1_3'UTR			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	279	Ig-like C2-type.				heterophilic cell-cell adhesion	integral to membrane		p.L279V(1)		endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCTAGGCCAAGAGCTGGGGCC	0.647000													26	34					0	0	0.108266	0	0
HIST1H3F	8968	broad.mit.edu	37	6	26250692	26250692	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:26250692C>T	ENST00000446824.2	-	1	143	c.142G>A	c.(142-144)Gcc>Acc	p.A48T		NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	48					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.A48T(1)		lung(6)|urinary_tract(1)	7						TCACGGAGGGCGACAGTACCA	0.607000													21	134					0	0	0.099896	0	0
BRCA2	675	broad.mit.edu	37	13	32914782	32914782	+	Missense_Mutation	SNP	C	C	T	rs80358866		TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr13:32914782C>T	ENST00000544455.1	+	11	6517	c.6290C>T	c.(6289-6291)aCg>aTg	p.T2097M	BRCA2_ENST00000380152.3_Missense_Mutation_p.T2097M	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2097					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.T2097M(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TATTCACCTACGTCTAGACAA	0.348000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			16	91					0	0	0.024245	0	0
OR8H1	219469	broad.mit.edu	37	11	56058521	56058521	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr11:56058521G>T	ENST00000313022.2	-	1	45	c.18C>A	c.(16-18)aaC>aaA	p.N6K		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N6K(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GCACATTTGTGTTATTTCTTC	0.358000													28	115					3.73988e-18	4.28528e-18	0.030593	1	0
OPRL1	4987	broad.mit.edu	37	20	62724217	62724217	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr20:62724217C>T	ENST00000349451.3	+	4	556	c.144C>T	c.(142-144)ctC>ctT	p.L48L	OPRL1_ENST00000355631.4_Silent_p.L48L|OPRL1_ENST00000336866.2_Silent_p.L48L	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	48					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	p.L48L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TCCTGCCCCTCGGGCTCAAGG	0.652000													61	95					0	0	0.048971	0	0
TENM2	57451	broad.mit.edu	37	5	167689593	167689593	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:167689593G>C	ENST00000519204.1	+	28	7858	c.7740G>C	c.(7738-7740)caG>caC	p.Q2580H	TENM2_ENST00000518659.1_Missense_Mutation_p.Q2701H|TENM2_ENST00000520394.1_Missense_Mutation_p.Q2462H|TENM2_ENST00000545108.1_Missense_Mutation_p.Q2700H|TENM2_ENST00000403607.2_Missense_Mutation_p.Q2525H					teneurin transmembrane protein 2									p.Q2534H(1)|p.Q2580H(1)|p.Q2701H(1)									AGGCGAGACAGAGGGCCCTGG	0.657000													3	6					0	0	0.004672	0	0
FBXO7	25793	broad.mit.edu	37	22	32889255	32889255	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr22:32889255G>A	ENST00000266087.7	+	7	1458	c.1131G>A	c.(1129-1131)ctG>ctA	p.L377L	FBXO7_ENST00000397426.1_Silent_p.L263L|FBXO7_ENST00000382058.3_Silent_p.L298L	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	377					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.L377L(2)|p.L298L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTTTATATCTGCGTGATTTTC	0.413000													10	200					0	0	0.069234	0	0
NVL	4931	broad.mit.edu	37	1	224492852	224492852	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:224492852G>C	ENST00000281701.6	-	7	891	c.632C>G	c.(631-633)tCt>tGt	p.S211C	NVL_ENST00000482491.1_5'UTR|NVL_ENST00000340871.4_5'UTR|NVL_ENST00000391875.2_Missense_Mutation_p.S105C|NVL_ENST00000469075.1_Missense_Mutation_p.S120C|NVL_ENST00000361463.3_Missense_Mutation_p.S105C	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	211						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity	p.S211C(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		CTCCAAAAGAGAAGAATCTTT	0.318000													29	60					0	0	0.034045	0	0
ITGA4	3676	broad.mit.edu	37	2	182359492	182359492	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:182359492G>A	ENST00000397033.2	+	12	1722	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	431					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.G431V(1)|p.G431E(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AGTATGTTTGGACAGTCTATA	0.308000													5	148					0	0	0.038147	0	0
GRM1	2911	broad.mit.edu	37	6	146350852	146350852	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:146350852T>A	ENST00000392299.2	+	2	669	c.199T>A	c.(199-201)Tgt>Agt	p.C67S	GRM1_ENST00000355289.4_Missense_Mutation_p.C67S|GRM1_ENST00000282753.1_Missense_Mutation_p.C67S|GRM1_ENST00000492807.2_Missense_Mutation_p.C67S|GRM1_ENST00000507907.1_Missense_Mutation_p.C67S|GRM1_ENST00000361719.2_Missense_Mutation_p.C67S			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	67					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.C67S(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CGAGAGGAAGTGTGGGGAGAT	0.592000													3	74					0	0	0.009096	0	0
PLXNA4	91584	broad.mit.edu	37	7	131910975	131910975	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr7:131910975C>T	ENST00000359827.3	-	8	2889	c.1927G>A	c.(1927-1929)Ggc>Agc	p.G643S	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G643S			Q9HCM2	PLXA4_HUMAN	plexin A4	643						integral to membrane|intracellular|plasma membrane		p.G643S(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AAGGTCATGCCGGTCTCCTTT	0.557000													90	149					0	0	0.048971	0	0
USP34	9736	broad.mit.edu	37	2	61415533	61415533	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:61415533C>G	ENST00000398571.2	-	80	10421	c.10345G>C	c.(10345-10347)Gaa>Caa	p.E3449Q	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3449					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.E3449Q(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCTTTAAATTCTTTACAATCG	0.418000													30	118					0	0	0.034045	0	0
CPED1	79974	broad.mit.edu	37	7	120740100	120740100	+	Silent	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr7:120740100G>T	ENST00000310396.5	+	7	1337	c.870G>T	c.(868-870)tcG>tcT	p.S290S	CPED1_ENST00000450913.2_Silent_p.S290S|CPED1_ENST00000423795.1_Silent_p.S70S	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.S290S(1)									TCATTCATTCGACGGGCACAG	0.423000													31	52					9.78485e-24	1.13298e-23	0.054565	1	0
DNAJB1	3337	broad.mit.edu	37	19	14626877	14626877	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr19:14626877C>G	ENST00000254322.2	-	3	968	c.898G>C	c.(898-900)Gaa>Caa	p.E300Q	DNAJB1_ENST00000396969.4_Missense_Mutation_p.E200Q	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	300					chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding	p.E300Q(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		GGGAGGCCTTCTCCAGGAACT	0.542000													3	133					0	0	0.004672	0	0
EPHA5	2044	broad.mit.edu	37	4	66201800	66201800	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:66201800A>T	ENST00000273854.3	-	16	3302	c.2702T>A	c.(2701-2703)aTg>aAg	p.M901K	EPHA5_ENST00000432638.2_Missense_Mutation_p.M738K|EPHA5_ENST00000354839.4_Missense_Mutation_p.M879K|EPHA5_ENST00000511294.1_Missense_Mutation_p.M902K	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	901	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.M901K(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AGGACAATCCATGGGGCTTGG	0.448000										TSP Lung(17;0.13)			4	66					0	0	0.009096	0	0
SPATS2	65244	broad.mit.edu	37	12	49888713	49888713	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr12:49888713G>A	ENST00000553127.1	+	8	967	c.454G>A	c.(454-456)Gag>Aag	p.E152K	SPATS2_ENST00000552918.1_Missense_Mutation_p.E152K|SPATS2_ENST00000321898.6_Missense_Mutation_p.E152K|SPATS2_ENST00000552557.1_3'UTR			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	152						cytoplasm		p.E152K(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						TGAAGGTTTGGAGACACTTTC	0.453000													22	69					0	0	0.069288	0	0
GPR151	134391	broad.mit.edu	37	5	145895383	145895383	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:145895383C>T	ENST00000311104.2	-	1	370	c.294G>A	c.(292-294)gcG>gcA	p.A98A		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	98						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A98A(3)		endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTTGGAGTACGCCGTAGCTC	0.512000													31	99					0	0	0.041601	0	0
MUC4	4585	broad.mit.edu	37	3	195477929	195477929	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:195477929C>T	ENST00000463781.3	-	23	16161	c.15702G>A	c.(15700-15702)tcG>tcA	p.S5234S	MUC4_ENST00000475231.1_Silent_p.S5182S|MUC4_ENST00000349607.4_Silent_p.S947S|MUC4_ENST00000346145.4_Silent_p.S998S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1991					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.S5234S(1)|p.S998S(1)|p.S5106S(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACTGGAACTCCGAGATGACCA	0.652000													11	91					0	0	0.080935	0	0
ZFHX3	463	broad.mit.edu	37	16	72984605	72984605	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr16:72984605G>A	ENST00000268489.5	-	3	3651	c.2979C>T	c.(2977-2979)acC>acT	p.T993T	ZFHX3_ENST00000397992.5_Silent_p.T79T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	993					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.T993T(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCTTGAGCTGGGTGTTGTAGC	0.607000													43	33					0	0	0.042209	0	0
PTPRK	5796	broad.mit.edu	37	6	128411080	128411080	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:128411080G>A	ENST00000368227.3	-	8	1586	c.1220C>T	c.(1219-1221)gCt>gTt	p.A407V	PTPRK_ENST00000368213.5_Missense_Mutation_p.A407V|PTPRK_ENST00000368215.3_Missense_Mutation_p.A407V|PTPRK_ENST00000368210.3_Missense_Mutation_p.A407V|PTPRK_ENST00000532331.1_Missense_Mutation_p.A407V|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368226.4_Missense_Mutation_p.A407V|PTPRK_ENST00000368207.3_Missense_Mutation_p.A407V			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	407	Fibronectin type-III 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.A407V(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CCAGTCCACAGCAATCCGTCT	0.418000													9	78					0	0	0.058154	0	0
THSD1	55901	broad.mit.edu	37	13	52971455	52971455	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr13:52971455C>T	ENST00000349258.4	-	3	1477	c.933G>A	c.(931-933)ggG>ggA	p.G311G	THSD1_ENST00000544466.1_Intron|THSD1_ENST00000258613.4_Silent_p.G311G	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	311						extracellular region|integral to membrane|intracellular membrane-bounded organelle		p.G311G(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ACTTATTCTTCCCCATGTCAA	0.448000													7	129					0	0	0.038147	0	0
MCM9	254394	broad.mit.edu	37	6	119232920	119232920	+	Silent	SNP	A	A	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:119232920A>G	ENST00000316316.6	-	7	1331	c.1045T>C	c.(1045-1047)Tta>Cta	p.L349L	MCM9_ENST00000316068.3_Silent_p.L349L	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	349	MCM.				DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity	p.L349L(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		CCAACCAATAAAAGATGAGAT	0.368000													31	50					0	0	0.054565	0	0
TNC	3371	broad.mit.edu	37	9	117849019	117849019	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:117849019A>C	ENST00000350763.4	-	3	1402	c.991T>G	c.(991-993)Tac>Gac	p.Y331D	TNC_ENST00000542877.1_Missense_Mutation_p.Y331D|TNC_ENST00000345230.3_Missense_Mutation_p.Y331D|TNC_ENST00000346706.3_Missense_Mutation_p.Y331D|TNC_ENST00000423613.2_Missense_Mutation_p.Y331D|TNC_ENST00000537320.1_Missense_Mutation_p.Y331D|TNC_ENST00000535648.1_Missense_Mutation_p.Y331D|TNC_ENST00000340094.3_Missense_Mutation_p.Y331D|TNC_ENST00000341037.4_Missense_Mutation_p.Y331D	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	331	EGF-like 6.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.Y331D(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCTTCGCAGTAGCAGGTGCCA	0.602000													19	119					0	0	0.043863	0	0
EMC1	23065	broad.mit.edu	37	1	19549914	19549914	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:19549914G>A	ENST00000477853.1	-	19	2394	c.2352C>T	c.(2350-2352)atC>atT	p.I784I	EMC1_ENST00000375208.3_Silent_p.I762I|EMC1_ENST00000375199.3_Silent_p.I783I|RP1-43E13.2_ENST00000437898.1_RNA	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1									p.I784I(1)									CTGAATGCACGATATGGACAG	0.537000													8	281					0	0	0.047766	0	0
RIPK1	8737	broad.mit.edu	37	6	3104493	3104493	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:3104493G>C	ENST00000259808.4	+	8	1248	c.950G>C	c.(949-951)aGa>aCa	p.R317T	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Missense_Mutation_p.R271T|RIPK1_ENST00000380409.2_Missense_Mutation_p.R317T			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	317	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	p.R317T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GTTGTGAAGAGAATGCAGTCT	0.338000													56	51					0	0	0.048971	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156634276	156634276	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:156634276C>G	ENST00000296518.7	+	7	1322	c.1113C>G	c.(1111-1113)atC>atG	p.I371M	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.I371M|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.I371M|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.I113M|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.I371M|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.I371M|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.I371M			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	371					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.I371M(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GCCAAATGATCTACATTGTTG	0.423000													28	68					0	0	0.030593	0	0
TRERF1	55809	broad.mit.edu	37	6	42236137	42236137	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:42236137G>A	ENST00000541110.1	-	5	1760	c.1192C>T	c.(1192-1194)Cag>Tag	p.Q398*	TRERF1_ENST00000372922.4_Nonsense_Mutation_p.Q398*|TRERF1_ENST00000340840.2_Nonsense_Mutation_p.Q398*|TRERF1_ENST00000354325.2_Nonsense_Mutation_p.Q398*|TRERF1_ENST00000372917.4_Nonsense_Mutation_p.Q398*			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	398	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.Q398*(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGCTGGTGCTGGGACAGGTGG	0.627000													106	103					0	0	0.048971	0	0
ZNF883	169834	broad.mit.edu	37	9	115759604	115759604	+	RNA	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:115759604C>G	ENST00000427548.1	-	0	2209							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TATGCGTCCTCTGATGTCGAA	0.378000													81	135					0	0	0.048971	0	0
TRIM26	7726	broad.mit.edu	37	6	30154266	30154266	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:30154266G>A	ENST00000454678.2	-	10	1443	c.1007C>T	c.(1006-1008)aCc>aTc	p.T336I	TRIM26_ENST00000437089.1_Missense_Mutation_p.T336I|TRIM26_ENST00000453195.1_Missense_Mutation_p.T336I	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	336	B30.2/SPRY.						DNA binding|zinc ion binding	p.T336I(1)		lung(1)|ovary(2)	3						GCTGGTGTAGGTCACGCACTT	0.577000													4	87					0	0	0.009096	0	0
CNTN6	27255	broad.mit.edu	37	3	1363500	1363500	+	Missense_Mutation	SNP	G	G	T	rs149799168	byFrequency	TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:1363500G>T	ENST00000446702.2	+	8	1555	c.928G>T	c.(928-930)Ggt>Tgt	p.G310C	CNTN6_ENST00000539053.1_Missense_Mutation_p.G238C|CNTN6_ENST00000350110.2_Missense_Mutation_p.G310C			Q9UQ52	CNTN6_HUMAN	contactin 6	310					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.G310C(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CCTTGCAAAGGGTCAACTCAT	0.358000													21	98					1.22574e-08	1.38288e-08	0.069288	1	0
HEG1	57493	broad.mit.edu	37	3	124748215	124748215	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:124748215T>C	ENST00000311127.4	-	2	501	c.434A>G	c.(433-435)cAg>cGg	p.Q145R		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	145			Q -> R (in dbSNP:rs4404487).			extracellular region|integral to membrane	calcium ion binding	p.Q145R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CCCAGAGGTCTGAACCATCAC	0.493000													3	109					0	0	0.009096	0	0
TMEM236	653567	broad.mit.edu	37	10	17813344	17813344	+	Silent	SNP	A	A	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr10:17813344A>G	ENST00000377495.1	+	2	338	c.294A>G	c.(292-294)acA>acG	p.T98T	TMEM236_ENST00000338221.5_Silent_p.T98T	NM_001098844.1	NP_001092314.1	Q5W0B7	TM236_HUMAN	transmembrane protein 236	98						integral to membrane		p.T98T(1)		urinary_tract(1)	1						TCCTCACCACACTGCCCTGCC	0.393000													40	97					0	0	0.048971	0	0
PDZD2	23037	broad.mit.edu	37	5	32090257	32090257	+	Missense_Mutation	SNP	C	C	T	rs147353592		TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:32090257C>T	ENST00000438447.1	+	20	7091	c.6703C>T	c.(6703-6705)Cgg>Tgg	p.R2235W	PDZD2_ENST00000282493.3_Missense_Mutation_p.R2235W			O15018	PDZD2_HUMAN	PDZ domain containing 2	2235					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.R2235W(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCATTTTGGACGGGAGGGTCA	0.632000													10	612					0	0	0.105934	0	0
LDLR	3949	broad.mit.edu	37	19	11224428	11224428	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr19:11224428C>T	ENST00000558518.1	+	10	1763	c.1576C>T	c.(1576-1578)Cct>Tct	p.P526S	LDLR_ENST00000558013.1_Missense_Mutation_p.P526S|LDLR_ENST00000535915.1_Missense_Mutation_p.P485S|LDLR_ENST00000545707.1_Missense_Mutation_p.P399S|LDLR_ENST00000455727.2_Missense_Mutation_p.P358S|LDLR_ENST00000557933.1_Missense_Mutation_p.P526S	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	526			P -> S (in Cincinnati-3).		cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.P526S(1)|p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CGTGGTGGATCCTGTTCATGG	0.582000													43	46					0	0	0.111260	0	0
SMOC1	64093	broad.mit.edu	37	14	70490103	70490103	+	Silent	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr14:70490103G>T	ENST00000381280.4	+	11	1483	c.1230G>T	c.(1228-1230)ctG>ctT	p.L410L	SMOC1_ENST00000361956.3_Silent_p.L410L	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	410	EF-hand 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	p.L410L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		ACTGTGACCTGAACAAAGACA	0.517000													113	127					5.96743e-59	7.0205e-59	0.048971	1	0
PDLIM4	8572	broad.mit.edu	37	5	131607548	131607548	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:131607548G>A	ENST00000253754.3	+	6	799	c.735G>A	c.(733-735)ccG>ccA	p.P245P	P4HA2_ENST00000471826.1_Intron|PDLIM4_ENST00000379018.3_Intron	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	245							protein binding|zinc ion binding	p.P245P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGGGCGCTCCGCTGAGCGGCC	0.726000													8	21					0	0	0.038147	0	0
MAN2A2	4122	broad.mit.edu	37	15	91448546	91448546	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr15:91448546G>C	ENST00000360468.3	+	2	216	c.198G>C	c.(196-198)gaG>gaC	p.E66D	MAN2A2_ENST00000559717.1_Missense_Mutation_p.E66D	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	66					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.E66D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			AGAACCATGAGATTATCAGCC	0.552000													69	65					0	0	0.048971	0	0
LRP1	4035	broad.mit.edu	37	12	57596297	57596297	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr12:57596297A>G	ENST00000243077.3	+	68	11154	c.10688A>G	c.(10687-10689)gAc>gGc	p.D3563G		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3563	LDL-receptor class A 26.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.D3563G(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GATTGCGGTGACAACTCCGAT	0.652000													3	43					0	0	0.004672	0	0
CCT3	7203	broad.mit.edu	37	1	156281973	156281973	+	Silent	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:156281973C>G	ENST00000295688.3	-	11	1294	c.1014G>C	c.(1012-1014)ctG>ctC	p.L338L	CCT3_ENST00000472765.2_Silent_p.L293L|CCT3_ENST00000368261.3_Silent_p.L293L|CCT3_ENST00000368259.2_Silent_p.L300L	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	338					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	p.L338L(1)		endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CATCTTCTCTCAGTTCCTCTG	0.478000													31	78					0	0	0.050027	0	0
SLC34A3	142680	broad.mit.edu	37	9	140127042	140127042	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:140127042G>A	ENST00000538474.1	+	4	415	c.191G>A	c.(190-192)gGc>gAc	p.G64D	SLC34A3_ENST00000361134.2_Missense_Mutation_p.G64D	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	64					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.G64D(1)		kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CGCGTGGCCGGCAGGCTGCGC	0.692000													3	33					0	0	0.004672	0	0
PIGW	284098	broad.mit.edu	37	17	34893433	34893433	+	Silent	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr17:34893433C>G	ENST00000592983.1	+	2	1063	c.483C>G	c.(481-483)ctC>ctG	p.L161L	MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Silent_p.L161L			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	161					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity	p.L161L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAACTGAGCTCTATGGGACAG	0.448000													38	189					0	0	0.086207	0	0
USP34	9736	broad.mit.edu	37	2	61607465	61607465	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:61607465G>A	ENST00000398571.2	-	7	929	c.853C>T	c.(853-855)Cga>Tga	p.R285*		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	285					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R285*(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GCACTCTGTCGTAACTCCTGA	0.368000													8	74					0	0	0.058154	0	0
ARSG	22901	broad.mit.edu	37	17	66366656	66366656	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr17:66366656A>G	ENST00000448504.2	+	8	1769	c.973A>G	c.(973-975)Act>Gct	p.T325A	ARSG_ENST00000452479.2_Missense_Mutation_p.T161A|ARSG_ENST00000582154.1_3'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	325					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding	p.T325A(1)		NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATTTTGGCAAACTCGTCAAGG	0.557000													4	64					0	0	0.009096	0	0
TARSL2	123283	broad.mit.edu	37	15	102211921	102211921	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr15:102211921C>T	ENST00000335968.3	-	14	2035	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	607					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	p.E607K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCCACGGTTCTCCAAAGTCC	0.348000													4	83					0	0	0.014758	0	0
NDOR1	27158	broad.mit.edu	37	9	140109624	140109624	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:140109624G>A	ENST00000371521.4	+	9	1226	c.1143G>A	c.(1141-1143)ccG>ccA	p.P381P	NDOR1_ENST00000427047.2_Silent_p.P347P|NDOR1_ENST00000458322.2_Silent_p.P381P|NDOR1_ENST00000344894.5_Silent_p.P381P	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	381	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding	p.P381P(1)		breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TTATCCGGCCGAGGGCCTTCT	0.647000													23	25					0	0	0.076483	0	0
UNC13C	440279	broad.mit.edu	37	15	54306931	54306931	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr15:54306931C>T	ENST00000545554.1	+	1	1831	c.1831C>T	c.(1831-1833)Cag>Tag	p.Q611*	UNC13C_ENST00000537900.1_Nonsense_Mutation_p.Q611*|UNC13C_ENST00000260323.11_Nonsense_Mutation_p.Q611*			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	611					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.Q611*(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGGAGGTGTTCAGGGTATCCA	0.502000													41	62					0	0	0.111260	0	0
FBXW10	10517	broad.mit.edu	37	17	18659367	18659367	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr17:18659367A>G	ENST00000308799.4	+	5	1438	c.1219A>G	c.(1219-1221)Aac>Gac	p.N407D	FBXW10_ENST00000395665.4_Missense_Mutation_p.N378D|FBXW10_ENST00000395667.1_Missense_Mutation_p.N378D|FBXW10_ENST00000301938.4_Missense_Mutation_p.N378D			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	378								p.N378D(2)		NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GAATGAGTACAACCTGTGGAC	0.478000													3	33					0	0	0.021553	0	0
DNAH9	1770	broad.mit.edu	37	17	11622799	11622799	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr17:11622799G>T	ENST00000262442.4	+	27	5769	c.5701G>T	c.(5701-5703)Gat>Tat	p.D1901Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.D1901Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D1901Y(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGAGCAGATGGATTACAAGGT	0.612000													14	76					6.31663e-08	7.0541e-08	0.024245	1	0
NOTCH4	4855	broad.mit.edu	37	6	32169171	32169171	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:32169171C>T	ENST00000375023.3	-	22	4000	c.3862G>A	c.(3862-3864)Gat>Aat	p.D1288N		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1288					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.D1288N(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGGTCCCCATCTTCAGGCCTG	0.627000													20	45					0	0	0.043863	0	0
SUCO	51430	broad.mit.edu	37	1	172558229	172558229	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:172558229A>T	ENST00000367723.4	+	17	2565	c.2441A>T	c.(2440-2442)cAa>cTa	p.Q814L	SUCO_ENST00000610051.1_Intron|SUCO_ENST00000263688.3_Missense_Mutation_p.Q663L|SUCO_ENST00000608151.1_Missense_Mutation_p.Q815L	NM_016227.2	NP_057311.3			SUN domain containing ossification factor									p.Q815L(1)|p.Q663L(1)									GTGTTAGCTCAACCACCCTTA	0.398000													5	45					0	0	0.021553	0	0
BRINP1	1620	broad.mit.edu	37	9	121930487	121930487	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:121930487C>A	ENST00000265922.3	-	8	1622	c.1161G>T	c.(1159-1161)tgG>tgT	p.W387C	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2			bone morphogenetic protein/retinoic acid inducible neural-specific 1	387								p.W387C(1)									CCCTTGCAAGCCACTGCTGAA	0.517000													6	22					0.00198382	0.00210841	0.029380	1	0
ABCC10	89845	broad.mit.edu	37	6	43412531	43412531	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:43412531C>T	ENST00000244533.3	+	11	2970	c.2611C>T	c.(2611-2613)Cgg>Tgg	p.R871W	ABCC10_ENST00000372530.4_Missense_Mutation_p.R899W	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	899						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R871W(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCCAGCCACGCGGAACGCTGC	0.587000													6	325					0	0	0.021553	0	0
PVRL4	81607	broad.mit.edu	37	1	161047356	161047356	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:161047356G>A	ENST00000368012.3	-	3	919	c.617C>T	c.(616-618)tCa>tTa	p.S206L		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	206	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		p.S206L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GTGGAACTCTGAGGTGACGGC	0.622000													53	424					0	0	0.048971	0	0
MYH7B	57644	broad.mit.edu	37	20	33577935	33577935	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr20:33577935C>T	ENST00000262873.7	+	19	2104	c.2012C>T	c.(2011-2013)gCg>gTg	p.A671V		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	629	Actin-binding (By similarity).|Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity	p.A671V(2)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GAGAATTATGCGGGCTCCTGC	0.547000													6	224					0	0	0.021553	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786336	121786336	+	Silent	SNP	T	T	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:121786336T>A	ENST00000261367.7	+	12	3363	c.1935T>A	c.(1933-1935)ctT>ctA	p.L645L	SNCAIP_ENST00000379533.2_Silent_p.L645L|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000542191.1_Silent_p.L156L|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000414317.2_Silent_p.L200L|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261368.8_Silent_p.L598L|SNCAIP_ENST00000379538.3_Silent_p.L232L|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379536.2_Silent_p.L538L			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	598					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	p.L645L(1)|p.L598L(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TTCAGGTTCTTGGAAGCCTGT	0.478000													5	144					0	0	0.014758	0	0
OTUD7A	161725	broad.mit.edu	37	15	31795993	31795993	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr15:31795993C>T	ENST00000382902.1	-	7	1014	c.922G>A	c.(922-924)Gag>Aag	p.E308K	OTUD7A_ENST00000307050.4_Missense_Mutation_p.E301K			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	301	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	p.E301K(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TCCAGGCTCTCGTACACGGGG	0.493000													52	69					0	0	0.048971	0	0
ADK	132	broad.mit.edu	37	10	76285071	76285071	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr10:76285071G>A	ENST00000372734.3	+	7	749	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	ADK_ENST00000539909.1_Intron|ADK_ENST00000541550.1_Missense_Mutation_p.E170K|RP11-46O21.2_ENST00000595410.1_RNA|ADK_ENST00000286621.2_Missense_Mutation_p.E205K|RP11-46O21.2_ENST00000448214.3_RNA	NM_001123.3|NM_001202449.1	NP_001114.2|NP_001189378.1	P55263	ADK_HUMAN	adenosine kinase	205					purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor	p.E205K(1)		breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	CCATGCTTCTGAAAACAACAG	0.368000													87	207					0	0	0.048971	0	0
KRTAP21-1	337977	broad.mit.edu	37	21	32127524	32127524	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr21:32127524T>C	ENST00000335093.3	-	1	222	c.173A>G	c.(172-174)tAt>tGt	p.Y58C		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	58						intermediate filament		p.Y58C(2)		breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						GCCAGagccatatccacagcc	0.507000													5	147					0	0	0.014758	0	0
ZNF221	7638	broad.mit.edu	37	19	44471003	44471003	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr19:44471003A>G	ENST00000251269.5	+	6	1677	c.1349A>G	c.(1348-1350)tAt>tGt	p.Y450C	ZNF221_ENST00000592350.1_Missense_Mutation_p.Y450C|ZNF221_ENST00000587682.1_Missense_Mutation_p.Y450C	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y450C(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				GAAAAGCCATATAACTGTGAG	0.423000													10	83					0	0	0.058154	0	0
POLN	353497	broad.mit.edu	37	4	2130948	2130948	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:2130948C>A	ENST00000511885.2	-	18	2178	c.1825G>T	c.(1825-1827)Gcc>Tcc	p.A609S	POLN_ENST00000382865.1_Missense_Mutation_p.A609S			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	609					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	p.A609S(1)		kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			ACAAACATGGCCCTCGGGGAG	0.403000								DNA polymerases (catalytic subunits)					37	61					2.24893e-16	2.56355e-16	0.111260	1	0
LAMC2	3918	broad.mit.edu	37	1	183209495	183209495	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:183209495C>T	ENST00000264144.4	+	22	3362	c.3297C>T	c.(3295-3297)ctC>ctT	p.L1099L	LAMC2_ENST00000461729.1_3'UTR|LAMC2_ENST00000493293.1_Silent_p.L1099L	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	1099	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	p.L1099L(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AAGACACACTCAACACATTAG	0.498000													9	53					0	0	0.047766	0	0
TTN	7273	broad.mit.edu	37	2	179622396	179622396	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:179622396C>G	ENST00000589042.1	-	45	10775	c.10551G>C	c.(10549-10551)gaG>gaC	p.E3517D	TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E3471D|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3198	Ig-like 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E3471D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCCTGTGGACTCCTCAAAAT	0.453000													3	139					0	0	0.004672	0	0
COL27A1	85301	broad.mit.edu	37	9	116931561	116931561	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:116931561A>G	ENST00000356083.3	+	3	2117	c.1726A>G	c.(1726-1728)Agc>Ggc	p.S576G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	576	Pro-rich.				cell adhesion		extracellular matrix structural constituent	p.S576G(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						AACCAGGCCTAGCCCCAGACA	0.667000													14	137					0	0	0.024245	0	0
SNX22	79856	broad.mit.edu	37	15	64446670	64446670	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr15:64446670C>G	ENST00000325881.4	+	7	604	c.545C>G	c.(544-546)gCg>gGg	p.A182G		NM_024798.2	NP_079074.2	Q96L94	SNX22_HUMAN	sorting nexin 22	182					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	p.A182G(1)		large_intestine(3)|lung(1)|urinary_tract(2)	6						CAGCCAAAGGCGGCCTGTCAC	0.562000													34	199					0	0	0.080422	0	0
OR2T6	254879	broad.mit.edu	37	1	248551039	248551039	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:248551039G>A	ENST00000355728.2	+	1	130	c.130G>A	c.(130-132)Gtc>Atc	p.V44I		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V44I(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCTAATGGGGTCATGATCTT	0.468000													20	82					0	0	0.049695	0	0
MED22	6837	broad.mit.edu	37	9	136211045	136211045	+	Silent	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:136211045G>C	ENST00000491289.1	-	4	929	c.348C>G	c.(346-348)ctC>ctG	p.L116L	MED22_ENST00000343730.5_Silent_p.L116L|MED22_ENST00000476080.1_Silent_p.L116L|MED22_ENST00000371999.1_Silent_p.L110L|MED22_ENST00000344469.5_Silent_p.L116L|MED22_ENST00000471524.1_5'UTR			Q15528	MED22_HUMAN	mediator complex subunit 22	116					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding	p.L116L(2)		endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		GCAGCGTGATGAGCTTCCGGT	0.577000													46	75					0	0	0.045515	0	0
EHMT1	79813	broad.mit.edu	37	9	140707963	140707963	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:140707963G>A	ENST00000460843.1	+	21	3188	c.3161G>A	c.(3160-3162)aGa>aAa	p.R1054K		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1054					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	p.R1054K(1)|p.R1023K(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AACATCGACAGAAATATCACT	0.572000													17	33					0	0	0.043863	0	0
UNC13C	440279	broad.mit.edu	37	15	54306223	54306223	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr15:54306223C>T	ENST00000545554.1	+	1	1123	c.1123C>T	c.(1123-1125)Cga>Tga	p.R375*	UNC13C_ENST00000537900.1_Nonsense_Mutation_p.R375*|UNC13C_ENST00000260323.11_Nonsense_Mutation_p.R375*			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	375					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.R375*(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGCAAAGCCTCGACCCATACT	0.378000													29	26					0	0	0.037714	0	0
MYH4	4622	broad.mit.edu	37	17	10369690	10369690	+	Missense_Mutation	SNP	G	G	A	rs112133139		TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr17:10369690G>A	ENST00000255381.2	-	4	358	c.248C>T	c.(247-249)cCc>cTc	p.P83L	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	83	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.P83L(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTCATATTTGGGAGGGTTCAT	0.438000													4	264					0	0	0.009096	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432966	140432966	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:140432966G>T	ENST00000306549.3	+	1	1988	c.1911G>T	c.(1909-1911)atG>atT	p.M637I		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		637	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.M637I(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGACCCCATGATGCAGAAAT	0.433000													8	274					2.17888e-05	2.37303e-05	0.058154	1	0
IPPK	64768	broad.mit.edu	37	9	95397569	95397569	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:95397569G>A	ENST00000287996.3	-	10	1214	c.938C>T	c.(937-939)tCg>tTg	p.S313L	IPPK_ENST00000375522.1_Intron	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	313					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity	p.S313L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						CGGTAACCCCGAGCGCTCTGG	0.552000											OREG0019315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	70					0	0	0.058154	0	0
SEC24A	10802	broad.mit.edu	37	5	134041067	134041067	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:134041067C>T	ENST00000398844.2	+	17	2779	c.2491C>T	c.(2491-2493)Ctg>Ttg	p.L831L		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	831					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	p.L831L(1)		NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTTTCGACTCTGAATGATGT	0.358000													61	128					0	0	0.048971	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776627	77776627	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr8:77776627C>T	ENST00000521891.2	+	11	11125	c.10677C>T	c.(10675-10677)tgC>tgT	p.C3559C	ZFHX4_ENST00000455469.2_Silent_p.C3514C|ZFHX4_ENST00000050961.6_Silent_p.C3510C|ZFHX4_ENST00000518282.1_Silent_p.C3533C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3510						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C3543C(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAAGTTTGTGCAGCACCTCAG	0.493000										HNSCC(33;0.089)			4	152					0	0	0.009096	0	0
CRAT	1384	broad.mit.edu	37	9	131860642	131860642	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:131860642T>C	ENST00000318080.2	-	10	1508	c.1214A>G	c.(1213-1215)cAg>cGg	p.Q405R	RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	405					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	p.Q405R(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	ATCCAGGTCCTGGATCATGCT	0.587000													45	156					0	0	0.048971	0	0
QARS	5859	broad.mit.edu	37	3	49135633	49135633	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:49135633G>A	ENST00000306125.6	-	22	2480	c.2143C>T	c.(2143-2145)Ctg>Ttg	p.L715L	QARS_ENST00000414533.1_Silent_p.L704L			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	715					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	p.L715L(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	ACCAGGTTCAGGTCACTTAAA	0.552000													15	130					0	0	0.028581	0	0
DCHS2	54798	broad.mit.edu	37	4	155160322	155160322	+	Splice_Site	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:155160322C>T	ENST00000357232.4	-	24	6126	c.6127G>A	c.(6127-6129)Ggc>Agc	p.G2043S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G2043S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AATAACTCACCATTCTTAGGA	0.368000													6	45					0	0	0.047766	0	0
NUP153	9972	broad.mit.edu	37	6	17675597	17675597	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:17675597T>C	ENST00000262077.2	-	4	585	c.586A>G	c.(586-588)Ata>Gta	p.I196V	NUP153_ENST00000537253.1_Missense_Mutation_p.I196V	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	196					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	p.I196V(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GAAACAGTTATATCTGAAACA	0.353000													16	52					0	0	0.028581	0	0
FMO2	2327	broad.mit.edu	37	1	171154946	171154946	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:171154946G>C	ENST00000441535.1	+	2	211	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	FMO2_ENST00000529935.1_Intron|FMO2_ENST00000209929.7_Missense_Mutation_p.E32Q	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	32					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	p.E32Q(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CACTTGCTTTGAGAGAACTGA	0.463000													43	157					0	0	0.045515	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999131	27999131	+	Missense_Mutation	SNP	C	C	T	rs148567837	byFrequency	TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chrX:27999131C>T	ENST00000441525.1	-	1	435	c.321G>A	c.(319-321)atG>atA	p.M107I		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	107	Glu-rich.							p.M107I(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						cttcctcctccatctcttctt	0.517000													22	44					0	0	0.055883	0	0
SPATS2	65244	broad.mit.edu	37	12	49888683	49888683	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr12:49888683G>A	ENST00000553127.1	+	8	937	c.424G>A	c.(424-426)Gag>Aag	p.E142K	SPATS2_ENST00000552918.1_Missense_Mutation_p.E142K|SPATS2_ENST00000321898.6_Missense_Mutation_p.E142K|SPATS2_ENST00000552557.1_3'UTR			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	142						cytoplasm		p.E142K(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						CAATGACACTGAGTCTGTGGA	0.468000													21	57					0	0	0.049695	0	0
CNGA1	1259	broad.mit.edu	37	4	47939675	47939675	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:47939675G>A	ENST00000402813.3	-	10	1185	c.1043C>T	c.(1042-1044)tCt>tTt	p.S348F	CNGA1_ENST00000420489.2_Missense_Mutation_p.S279F|CNGA1_ENST00000358519.4_Missense_Mutation_p.S279F|CNGA1_ENST00000544810.1_Missense_Mutation_p.S279F|CNGA1_ENST00000514170.1_Missense_Mutation_p.S279F			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	279					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	p.S279F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						AAACATACGAGAGAACCGTAA	0.358000													37	78					0	0	0.059317	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72520559	72520559	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr10:72520559G>C	ENST00000373208.1	+	22	3631	c.3631G>C	c.(3631-3633)Gac>Cac	p.D1211H	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.D1208H	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1208	Pro-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.D1211H(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ACCTGGAGAAGACCTGAGACA	0.642000													34	89					0	0	0.059317	0	0
MST1	4485	broad.mit.edu	37	3	49721756	49721756	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:49721756C>T	ENST00000449682.2	-	17	2368	c.2007G>A	c.(2005-2007)ggG>ggA	p.G669G		NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	655	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.G655G(1)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCTCACAGGCCCCCACAGGGG	0.567000													56	62					0	0	0.048971	0	0
LAT	27040	broad.mit.edu	37	16	28997204	28997204	+	Missense_Mutation	SNP	G	G	A	rs150635404	byFrequency	TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr16:28997204G>A	ENST00000395456.2	+	3	480	c.158G>A	c.(157-159)cGg>cAg	p.R53Q	LAT_ENST00000563964.1_3'UTR|LAT_ENST00000454369.2_Missense_Mutation_p.R53Q|LAT_ENST00000395461.3_Missense_Mutation_p.R89Q|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000360872.5_Missense_Mutation_p.R53Q|LAT_ENST00000564277.1_Missense_Mutation_p.R53Q|LAT_ENST00000566177.1_Missense_Mutation_p.R53Q|LAT_ENST00000354453.4_Missense_Mutation_p.R53Q	NM_001014987.1|NM_001014988.1|NM_014387.3	NP_001014987.1|NP_001014988.1|NP_055202.1	O43561	LAT_HUMAN	linker for activation of T cells	53					calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity	p.R53Q(1)		large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				CAGTTCAAACGGCCTCGTGAG	0.607000													107	174					0	0	0.048971	0	0
KCNH7	90134	broad.mit.edu	37	2	163279802	163279802	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:163279802A>G	ENST00000328032.4	-	8	2388	c.2177T>C	c.(2176-2178)aTa>aCa	p.I726T	KCNH7_ENST00000332142.5_Intron	NM_173162.2	NP_775185.1	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	0					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.I726T(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GGCTATCACTATAATGCCTGC	0.418000													4	162					0	0	0.009096	0	0
AGAP6	414189	broad.mit.edu	37	10	51754173	51754173	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr10:51754173G>T	ENST00000374056.4	+	3	709	c.311G>T	c.(310-312)aGc>aTc	p.S104I	AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	127					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.S127I(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATAAGAAGAAGCAACTGTACA	0.269000													8	98					0.000274275	0.000294344	0.047766	1	0
SDK1	221935	broad.mit.edu	37	7	3681698	3681698	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr7:3681698G>C	ENST00000404826.2	+	4	813	c.674G>C	c.(673-675)tGg>tCg	p.W225S	SDK1_ENST00000389531.3_Missense_Mutation_p.W225S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	225	Ig-like C2-type 2.				cell adhesion	integral to membrane		p.W225S(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAAGTGACTTGGTTTAGAGAA	0.448000													4	148					0	0	0.014758	0	0
CACNG8	59283	broad.mit.edu	37	19	54483190	54483190	+	Missense_Mutation	SNP	T	T	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr19:54483190T>G	ENST00000270458.2	+	3	540	c.437T>G	c.(436-438)gTg>gGg	p.V146G		NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	146					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.V146G(2)		kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GGTGTGTGCGTGGCGGCCTCC	0.647000													4	21					0	0	0.009096	0	0
OR6C70	390327	broad.mit.edu	37	12	55863607	55863607	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr12:55863607C>T	ENST00000327335.4	-	1	315	c.316G>A	c.(316-318)Ggg>Agg	p.G106R	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G106R(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						TCTGTAACCCCCAAGAATATG	0.393000													8	52					0	0	0.047766	0	0
KIAA1984	84960	broad.mit.edu	37	9	139702037	139702037	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:139702037C>T	ENST00000338005.6	+	14	1535	c.1500C>T	c.(1498-1500)ttC>ttT	p.F500F	RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA|KIAA1984-AS1_ENST00000414656.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	500								p.F500F(1)		biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CCTTCCAGTTCCCCGACATGG	0.687000													6	8					0	0	0.021553	0	0
OLFM4	10562	broad.mit.edu	37	13	53624617	53624617	+	Missense_Mutation	SNP	T	T	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr13:53624617T>G	ENST00000219022.2	+	5	1322	c.1244T>G	c.(1243-1245)cTt>cGt	p.L415R		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	415	Olfactomedin-like.				cell adhesion	extracellular space		p.L415R(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GACACCACACTTCAGGTGCTA	0.428000													32	140					0	0	0.054565	0	0
ANK2	287	broad.mit.edu	37	4	114251495	114251495	+	Silent	SNP	T	T	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:114251495T>C	ENST00000357077.4	+	27	3047	c.2994T>C	c.(2992-2994)tgT>tgC	p.C998C	ANK2_ENST00000509550.1_Silent_p.C207C|ANK2_ENST00000394537.3_Silent_p.C998C|ANK2_ENST00000506722.1_Silent_p.C989C|ANK2_ENST00000264366.6_Silent_p.C998C	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	998	Interaction with SPTBN1.|ZU5.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.C998C(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTCGGAAATGTACTGCTCCAA	0.537000													5	60					0	0	0.014758	0	0
MOGS	7841	broad.mit.edu	37	2	74690357	74690357	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:74690357G>A	ENST00000233616.4	-	3	898	c.736C>T	c.(736-738)Cca>Tca	p.P246S	MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000409065.1_Intron|MOGS_ENST00000452063.2_Missense_Mutation_p.P140S	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	246					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	p.P246S(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CTGGTTGGTGGCAAAAGTGTA	0.522000													5	187					0	0	0.021553	0	0
OBSL1	23363	broad.mit.edu	37	2	220422740	220422740	+	Missense_Mutation	SNP	G	G	A	rs143517287	by1000genomes	TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:220422740G>A	ENST00000404537.1	-	11	3651	c.3595C>T	c.(3595-3597)Cgg>Tgg	p.R1199W	OBSL1_ENST00000603926.1_Missense_Mutation_p.R1199W|OBSL1_ENST00000373876.1_Missense_Mutation_p.R1199W|OBSL1_ENST00000265317.5_Missense_Mutation_p.R190W|OBSL1_ENST00000265318.4_Missense_Mutation_p.R1107W	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1199	Ig-like 10.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	p.R1199W(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCGCCAGCCCGGGACAGTTCA	0.667000													11	15					0	0	0.080935	0	0
TANC1	85461	broad.mit.edu	37	2	160033027	160033027	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:160033027C>A	ENST00000263635.6	+	13	2137	c.1900C>A	c.(1900-1902)Cag>Aag	p.Q634K	TANC1_ENST00000454300.1_Missense_Mutation_p.Q528K	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	634						cell junction|postsynaptic density|postsynaptic membrane	binding	p.Q634K(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AGCAAATTTTCAGGTAACAAA	0.323000													16	55					1.67942e-08	1.88506e-08	0.038395	1	0
SDCCAG8	10806	broad.mit.edu	37	1	243471361	243471361	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:243471361C>G	ENST00000366541.3	+	8	929	c.811C>G	c.(811-813)Ctg>Gtg	p.L271V	SDCCAG8_ENST00000355875.4_Missense_Mutation_p.L228V|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.L271V|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.L126V	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	271	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	p.L271V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		AGAATTTCTTCTGGCTGCTAA	0.368000													90	91					0	0	0.048971	0	0
GZF1	64412	broad.mit.edu	37	20	23351021	23351021	+	Silent	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr20:23351021G>C	ENST00000338121.5	+	6	2156	c.2079G>C	c.(2077-2079)ctG>ctC	p.L693L	GZF1_ENST00000377051.2_Silent_p.L693L|GZF1_ENST00000542987.1_Silent_p.L202L|GZF1_ENST00000544236.1_Silent_p.L217L			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	693					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	p.L693L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TTAGCGAGCTGACCCCACAGA	0.547000													40	95					0	0	0.092188	0	0
DNAH5	1767	broad.mit.edu	37	5	13865842	13865842	+	Silent	SNP	A	A	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:13865842A>G	ENST00000265104.4	-	27	4394	c.4290T>C	c.(4288-4290)taT>taC	p.Y1430Y	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1430	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Y1430Y(1)		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)					AAAGAATATCATAATAGCTAT	0.313000									Kartagener syndrome				15	114					0	0	0.020292	0	0
KIAA1468	57614	broad.mit.edu	37	18	59949606	59949606	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr18:59949606C>G	ENST00000256858.6	+	26	3532	c.3284C>G	c.(3283-3285)tCt>tGt	p.S1095C	KIAA1468_ENST00000398130.2_Missense_Mutation_p.S1061C			Q9P260	K1468_HUMAN	KIAA1468	1061							binding	p.S1061C(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GACCAACATTCTTTGCATACA	0.393000													72	78					0	0	0.048971	0	0
NBR1	4077	broad.mit.edu	37	17	41342744	41342744	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr17:41342744C>G	ENST00000422280.1	+	9	1273	c.814C>G	c.(814-816)Cac>Gac	p.H272D	NBR1_ENST00000389312.4_Missense_Mutation_p.H272D|NBR1_ENST00000589872.1_Missense_Mutation_p.H272D|NBR1_ENST00000542611.1_Missense_Mutation_p.H251D|NBR1_ENST00000341165.6_Missense_Mutation_p.H272D|NBR1_ENST00000590996.1_Missense_Mutation_p.H272D	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	272					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	p.H272D(1)		NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		ACCGTTCTGTCACTCAAAGTA	0.483000													38	30					0	0	0.092188	0	0
SATL1	340562	broad.mit.edu	37	X	84363234	84363234	+	Silent	SNP	G	G	A	rs111730253	byFrequency	TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chrX:84363234G>A	ENST00000509231.1	-	1	820	c.741C>T	c.(739-741)gaC>gaT	p.D247D	SATL1_ENST00000395409.3_Silent_p.D60D|SATL1_ENST00000332921.5_Silent_p.D60D			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	60	Gln-rich.						N-acetyltransferase activity	p.D247D(1)		NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						ATTGGTTTGCGTCTGGTTGGC	0.473000													43	97					0	0	0.111260	0	0
BRAT1	221927	broad.mit.edu	37	7	2586960	2586960	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr7:2586960G>A	ENST00000340611.4	-	3	536	c.280C>T	c.(280-282)Cag>Tag	p.Q94*		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	94					response to ionizing radiation	nucleus	protein binding	p.Q94*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						AGGCTCACCTGAAGATACTGG	0.602000													31	66					0	0	0.045705	0	0
ITGA10	8515	broad.mit.edu	37	1	145534100	145534100	+	Silent	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:145534100C>G	ENST00000369304.3	+	14	1780	c.1605C>G	c.(1603-1605)ctC>ctG	p.L535L	ITGA10_ENST00000539363.1_Silent_p.L392L|ITGA10_ENST00000538811.1_Silent_p.L404L	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	535					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	p.L535L(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGCTGACCCTCCAAGGAACAC	0.532000													43	175					0	0	0.042209	0	0
MYH1	4619	broad.mit.edu	37	17	10411687	10411687	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr17:10411687C>T	ENST00000226207.5	-	16	1984	c.1890G>A	c.(1888-1890)gcG>gcA	p.A630A	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	630	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.A630A(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TACCTGCTTCCGCTCCCGTTG	0.463000													105	139					0	0	0.048971	0	0
HIP1R	9026	broad.mit.edu	37	12	123342728	123342728	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr12:123342728C>T	ENST00000253083.4	+	19	2020	c.1895C>T	c.(1894-1896)gCg>gTg	p.A632V		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	632					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	p.A632V(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		GCCGAGGCCGCGGGCATCCTG	0.687000													38	19					0	0	0.048971	0	0
PSAT1	29968	broad.mit.edu	37	9	80921289	80921289	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:80921289G>A	ENST00000376588.3	+	5	525	c.457G>A	c.(457-459)Gca>Aca	p.A153T	PSAT1_ENST00000347159.2_Missense_Mutation_p.A153T	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	153					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	p.A153T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	GTATTATTGCGCAAATGAGAC	0.463000													6	527					0	0	0.021553	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50402325	50402325	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:50402325G>T	ENST00000435965.1	-	38	3488	c.3315C>A	c.(3313-3315)aaC>aaA	p.N1105K	CACNA2D2_ENST00000479441.1_Missense_Mutation_p.N1102K|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.N1095K|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.N1097K|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.N1028K|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.N1096K|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.N1105K|XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.N1098K			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	1102					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.N1095K(1)		breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TCACTGTCGCGTTGTAGTCGA	0.667000													19	25					1.28384e-07	1.41932e-07	0.062417	1	0
SRC	6714	broad.mit.edu	37	20	36012573	36012573	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr20:36012573G>A	ENST00000373578.2	+	4	366	c.17G>A	c.(16-18)aGc>aAc	p.S6N	SRC_ENST00000445403.1_Missense_Mutation_p.S6N|SRC_ENST00000358208.4_Missense_Mutation_p.S6N|SRC_ENST00000373558.2_Missense_Mutation_p.S6N|SRC_ENST00000373567.2_Missense_Mutation_p.S6N|SRC_ENST00000360723.4_Missense_Mutation_p.S6N	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	6					axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity	p.S6N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	AGCAACAAGAGCAAGCCCAAG	0.701000													10	10					0	0	0.105934	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686549	125686549	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chrX:125686549C>T	ENST00000371126.1	-	1	285	c.43G>A	c.(43-45)Gcg>Acg	p.A15T		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	15								p.A15T(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCCTCGACCGCGGGCGCTTTC	0.726000													6	26					0	0	0.021553	0	0
PMS1	5378	broad.mit.edu	37	2	190719590	190719590	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:190719590A>G	ENST00000441310.2	+	9	1825	c.1592A>G	c.(1591-1593)aAt>aGt	p.N531S	PMS1_ENST00000432292.3_Missense_Mutation_p.N355S|PMS1_ENST00000418224.3_Missense_Mutation_p.N355S|PMS1_ENST00000447232.2_Missense_Mutation_p.N531S|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000409823.3_Missense_Mutation_p.N492S	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	531					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	p.N531S(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GTAAGTAATAATAATTATCCA	0.284000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					33	33					0	0	0.054565	0	0
C2orf44	80304	broad.mit.edu	37	2	24253912	24253912	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:24253912G>C	ENST00000295148.4	-	4	2114	c.2057C>G	c.(2056-2058)tCt>tGt	p.S686C	C2orf44_ENST00000406895.3_3'UTR	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	686							protein binding	p.S686C(1)	C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGAGAAAAAGAGTCTCTGAA	0.473000			T	ALK	NSCLC								14	64					0	0	0.105934	0	0
IKBKAP	8518	broad.mit.edu	37	9	111679867	111679867	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:111679867T>C	ENST00000374647.5	-	9	1131	c.824A>G	c.(823-825)cAt>cGt	p.H275R	IKBKAP_ENST00000537196.1_5'UTR	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	275					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	p.H275R(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAAGTGTCCATGAAGGAGTCC	0.413000													20	132					0	0	0.043863	0	0
CIZ1	25792	broad.mit.edu	37	9	130928556	130928556	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:130928556G>A	ENST00000538431.1	-	18	2942	c.2695C>T	c.(2695-2697)Cag>Tag	p.Q899*	CIZ1_ENST00000541172.1_Nonsense_Mutation_p.Q772*|CIZ1_ENST00000372948.3_Nonsense_Mutation_p.Q817*|CIZ1_ENST00000372954.1_Nonsense_Mutation_p.Q793*|CIZ1_ENST00000277465.4_Nonsense_Mutation_p.Q845*|CIZ1_ENST00000372938.5_Nonsense_Mutation_p.Q873*|CIZ1_ENST00000325721.8_Nonsense_Mutation_p.Q844*|CIZ1_ENST00000357558.5_Nonsense_Mutation_p.Q845*|CIZ1_ENST00000393608.1_Nonsense_Mutation_p.Q873*	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	873						nucleus	nucleic acid binding|protein binding|zinc ion binding	p.Q873*(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						GTTTTGTCCTGGGTGTTGGGC	0.662000													5	9					0	0	0.029380	0	0
TTN	7273	broad.mit.edu	37	2	179616159	179616159	+	Silent	SNP	A	A	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:179616159A>C	ENST00000360870.5	-	46	11190	c.10968T>G	c.(10966-10968)acT>acG	p.T3656T	TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9501	Ig-like 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAAATGTATAGTTCTCATCA	0.348000													6	121					0	0	0.021553	0	0
XPO5	57510	broad.mit.edu	37	6	43538336	43538336	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:43538336C>A	ENST00000265351.7	-	5	734	c.524G>T	c.(523-525)aGa>aTa	p.R175I		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	175					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	p.R175I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GATGTCCCTTCTTCTTTGAGG	0.403000													73	355					2.69673e-31	3.15575e-31	0.048971	1	0
SLC23A3	151295	broad.mit.edu	37	2	220034109	220034109	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:220034109G>C	ENST00000455516.2	-	3	387	c.340C>G	c.(340-342)Cca>Gca	p.P114A	SLC23A3_ENST00000295738.7_Missense_Mutation_p.P114A|SLC23A3_ENST00000409878.3_Missense_Mutation_p.P114A|SLC23A3_ENST00000396775.3_Missense_Mutation_p.P56A	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	114					transmembrane transport	integral to membrane	protein binding|transporter activity	p.P114A(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTAAGGATGGAGCCTGGACA	0.597000													93	60					0	0	0.048971	0	0
GABBR2	9568	broad.mit.edu	37	9	101258739	101258739	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:101258739C>T	ENST00000259455.2	-	4	1147	c.688G>A	c.(688-690)Gag>Aag	p.E230K	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	230					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.E230K(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GAGAAGCTCTCGGTGTCTGAA	0.542000													9	73					0	0	0.069234	0	0
PLSCR4	57088	broad.mit.edu	37	3	145917695	145917695	+	Missense_Mutation	SNP	G	G	A	rs34036393		TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:145917695G>A	ENST00000354952.2	-	6	769	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000493382.1_Missense_Mutation_p.R177W|PLSCR4_ENST00000446574.2_Missense_Mutation_p.R177W|PLSCR4_ENST00000383083.2_Intron	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	177					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	p.R177W(1)		kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						TCAGTGACCCGGAGGACGAAG	0.483000													6	71					0	0	0.021553	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74194193	74194193	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr14:74194193C>T	ENST00000286523.5	-	5	2912	c.2130G>A	c.(2128-2130)gtG>gtA	p.V710V	ELMSAN1_ENST00000394071.2_Silent_p.V710V	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1									p.V710V(1)									CCTCCCCCATCACAGAGAGGA	0.607000													10	40					0	0	0.080935	0	0
RNF123	63891	broad.mit.edu	37	3	49736242	49736242	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:49736242C>G	ENST00000327697.6	+	9	769	c.625C>G	c.(625-627)Ctg>Gtg	p.L209V	RNF123_ENST00000432042.1_Missense_Mutation_p.L63V	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	209	B30.2/SPRY.					cytoplasm	ligase activity|protein binding|zinc ion binding	p.L209V(1)		NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TGATGGCACTCTGTCCTTCTG	0.632000													34	44					0	0	0.050027	0	0
SATB2	23314	broad.mit.edu	37	2	200137185	200137185	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:200137185G>A	ENST00000443023.1	-	10	3239	c.1774C>T	c.(1774-1776)Cag>Tag	p.Q592*	SATB2_ENST00000428695.1_Nonsense_Mutation_p.Q533*|SATB2_ENST00000260926.5_Nonsense_Mutation_p.Q651*|SATB2_ENST00000457245.1_Nonsense_Mutation_p.Q651*|SATB2_ENST00000417098.1_Nonsense_Mutation_p.Q651*			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	651						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.Q651*(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGATCCAGCTGAGCCGAAAGA	0.542000													20	108					0	0	0.043863	0	0
COL1A2	1278	broad.mit.edu	37	7	94047865	94047865	+	Splice_Site	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr7:94047865G>A	ENST00000297268.6	+	33	2496		c.e33+1			NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2						axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.?(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTGCTCGTGTGAGTAGAAT	0.348000										HNSCC(75;0.22)			40	75					0	0	0.039052	0	0
TCP11L2	255394	broad.mit.edu	37	12	106712243	106712243	+	Splice_Site	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr12:106712243G>A	ENST00000546625.1	+	4	573		c.e4+1		TCP11L2_ENST00000299045.3_Splice_Site|TCP11L2_ENST00000547153.1_Splice_Site			Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2									p.?(1)		endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						AATCAGAGAGGCAAGTTGCTT	0.448000													9	128					0	0	0.058154	0	0
TCFL5	10732	broad.mit.edu	37	20	61490866	61490866	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr20:61490866A>C	ENST00000335351.3	-	3	936	c.844T>G	c.(844-846)Tca>Gca	p.S282A	TCFL5_ENST00000217162.5_Missense_Mutation_p.S234A	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	282					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity	p.S282A(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					ACAGAACATGAGTTACTAGAA	0.368000													17	99					0	0	0.028581	0	0
RNFT1	51136	broad.mit.edu	37	17	58040312	58040312	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr17:58040312G>A	ENST00000305783.8	-	2	445	c.390C>T	c.(388-390)gcC>gcT	p.A130A	RP11-178C3.1_ENST00000591035.1_Intron|RNFT1_ENST00000442346.2_Silent_p.A93A	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	130						integral to membrane	zinc ion binding	p.A130A(1)|p.A93A(1)		large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			CAGATTCTGCGGCAGTATCAT	0.468000													4	158					0	0	0.009096	0	0
OR4L1	122742	broad.mit.edu	37	14	20528885	20528885	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr14:20528885A>C	ENST00000315683.1	+	1	682	c.682A>C	c.(682-684)Aaa>Caa	p.K228Q		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K228Q(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGTACCAAAAAAATCATCACA	0.448000													5	143					0	0	0.014758	0	0
SACS	26278	broad.mit.edu	37	13	23929791	23929791	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr13:23929791G>A	ENST00000382298.3	-	8	1548	c.960C>T	c.(958-960)gtC>gtT	p.V320V	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382292.3_Silent_p.V320V	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	320					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.V173V(1)|p.V320V(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAGCCTCTCGGACATATAAGG	0.443000													16	55					0	0	0.033300	0	0
TPTE2	93492	broad.mit.edu	37	13	20041439	20041439	+	Silent	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr13:20041439G>T	ENST00000400230.2	-	7	482	c.438C>A	c.(436-438)gcC>gcA	p.A146A	TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382977.4_Silent_p.A146A|TPTE2_ENST00000390680.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	146						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.A146A(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TCACAATAATGGCAGTATCTA	0.313000													7	51					1.06961e-07	1.18846e-07	0.038147	1	0
SYNE2	23224	broad.mit.edu	37	14	64519446	64519446	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr14:64519446G>C	ENST00000358025.3	+	48	9045	c.8815G>C	c.(8815-8817)Gaa>Caa	p.E2939Q	SYNE2_ENST00000554584.1_Missense_Mutation_p.E2972Q|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.E2939Q	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2939					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.E2939Q(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAATGAAGTGGAACACAAGAT	0.343000													13	39					0	0	0.093190	0	0
LPIN3	64900	broad.mit.edu	37	20	39986944	39986944	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr20:39986944C>T	ENST00000373257.3	+	18	2351	c.2260C>T	c.(2260-2262)Ctg>Ttg	p.L754L	LPIN3_ENST00000491528.1_3'UTR	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	754	C-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	p.L754L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GCAGCTGTTTCTGCCCCACGG	0.602000													37	49					0	0	0.098360	0	0
MAST4	375449	broad.mit.edu	37	5	66462291	66462291	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:66462291G>A	ENST00000404260.3	+	29	7601	c.7293G>A	c.(7291-7293)ccG>ccA	p.P2431P	MAST4_ENST00000403666.1_Silent_p.P2239P|MAST4_ENST00000405643.1_Silent_p.P2249P|MAST4_ENST00000403625.2_Silent_p.P2428P|MAST4_ENST00000261569.7_Silent_p.P2234P			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2431						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.P2431P(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGAAGCCACCGACGGAGGCAG	0.652000											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	4					0	0	0.014758	0	0
PLAUR	5329	broad.mit.edu	37	19	44169588	44169588	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr19:44169588C>G	ENST00000221264.4	-	3	616	c.190G>C	c.(190-192)Gag>Cag	p.E64Q	PLAUR_ENST00000339082.3_Missense_Mutation_p.E64Q|PLAUR_ENST00000340093.3_Missense_Mutation_p.E64Q|PLAUR_ENST00000601723.1_Missense_Mutation_p.E64Q	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	64	UPAR/Ly6 1.				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity	p.E64Q(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	CAGCTTTTCTCCACCAGCTCC	0.542000													26	84					0	0	0.034045	0	0
SIPA1	6494	broad.mit.edu	37	11	65417472	65417472	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr11:65417472C>A	ENST00000394224.3	+	13	3094	c.2798C>A	c.(2797-2799)tCg>tAg	p.S933*	SIPA1_ENST00000527525.1_Nonsense_Mutation_p.S831*|SIPA1_ENST00000534313.1_Nonsense_Mutation_p.S933*|SIPA1_ENST00000394227.3_Nonsense_Mutation_p.S831*	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	933					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	p.S933*(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CAGGCCATCTCGGAGATTGCC	0.647000													5	76					0.000602214	0.000643142	0.014758	1	0
CLIP1	6249	broad.mit.edu	37	12	122825944	122825944	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr12:122825944C>T	ENST00000358808.2	-	10	1928	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K	CLIP1_ENST00000540338.1_Missense_Mutation_p.E603K|CLIP1_ENST00000545889.1_Missense_Mutation_p.E293K|CLIP1_ENST00000302528.7_Missense_Mutation_p.E592K|CLIP1_ENST00000361654.4_Missense_Mutation_p.E557K|CLIP1_ENST00000537178.1_Missense_Mutation_p.E557K	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	603					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	p.E592K(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTCAATGACTCGTTCTCTTTG	0.468000													22	277					0	0	0.062417	0	0
HSPB11	51668	broad.mit.edu	37	1	54395807	54395807	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:54395807G>A	ENST00000194214.5	-	3	499	c.110C>T	c.(109-111)aCg>aTg	p.T37M	HSPB11_ENST00000371378.2_Missense_Mutation_p.T37M|HSPB11_ENST00000371376.1_Missense_Mutation_p.T37M|HSPB11_ENST00000371377.3_Missense_Mutation_p.T37M	NM_016126.2	NP_057210.2	Q9Y547	HSB11_HUMAN	heat shock protein family B (small), member 11	37					cell adhesion|response to stress			p.T37M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						GGTCCAAAACGTTTCTGGATT	0.284000													49	76					0	0	0.048971	0	0
RADIL	55698	broad.mit.edu	37	7	4845343	4845343	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr7:4845343C>G	ENST00000399583.3	-	10	2331	c.2144G>C	c.(2143-2145)aGc>aCc	p.S715T	RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Missense_Mutation_p.S475T	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	715	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding	p.S715T(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGCTGTCCAGCTCATCTGGGT	0.662000													21	47					0	0	0.055883	0	0
GRIA4	2893	broad.mit.edu	37	11	105774631	105774631	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr11:105774631G>C	ENST00000393127.2	+	8	1423	c.977G>C	c.(976-978)gGa>gCa	p.G326A	GRIA4_ENST00000530497.1_Missense_Mutation_p.G326A|GRIA4_ENST00000428631.2_Missense_Mutation_p.G326A|GRIA4_ENST00000393125.2_Missense_Mutation_p.G326A|GRIA4_ENST00000282499.5_Missense_Mutation_p.G326A|GRIA4_ENST00000525187.1_Missense_Mutation_p.G326A	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	326					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.G326A(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TCAAGGAGAGGAAATGCTGGG	0.443000													45	68					0	0	0.111260	0	0
HGFAC	3083	broad.mit.edu	37	4	3451002	3451002	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:3451002C>T	ENST00000382774.3	+	14	1939	c.1824C>T	c.(1822-1824)ggC>ggT	p.G608G	HGFAC_ENST00000511533.1_Silent_p.G615G	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	608	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	p.G608G(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AGAAGAACGGCGTGGCTTACC	0.677000													32	70					0	0	0.059317	0	0
SEC24A	10802	broad.mit.edu	37	5	134041037	134041037	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:134041037C>A	ENST00000398844.2	+	17	2749	c.2461C>A	c.(2461-2463)Cat>Aat	p.H821N		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	821					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	p.H821N(1)		NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATTCGTGTTCATACTTTGTG	0.373000													56	112					4.17463e-26	4.85936e-26	0.048971	1	0
PTPN22	26191	broad.mit.edu	37	1	114372254	114372254	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:114372254T>C	ENST00000359785.5	-	18	2345	c.2210A>G	c.(2209-2211)cAg>cGg	p.Q737R	PTPN22_ENST00000525799.1_Missense_Mutation_p.Q610R|PTPN22_ENST00000420377.2_Missense_Mutation_p.Q737R|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000538253.1_Missense_Mutation_p.Q493R|PTPN22_ENST00000528414.1_Missense_Mutation_p.Q682R	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	737					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	p.Q737R(1)		NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTCAGTGTCTGTTTTGAAGA	0.368000													3	169					0	0	0.004672	0	0
SLC6A9	6536	broad.mit.edu	37	1	44474107	44474107	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:44474107G>A	ENST00000372310.3	-	5	673	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	SLC6A9_ENST00000372306.3_Missense_Mutation_p.R170W|SLC6A9_ENST00000357730.2_Missense_Mutation_p.R189W|SLC6A9_ENST00000475075.2_Missense_Mutation_p.R59W|SLC6A9_ENST00000360584.2_Missense_Mutation_p.R243W|SLC6A9_ENST00000537678.1_Missense_Mutation_p.R105W|SLC6A9_ENST00000372307.3_Missense_Mutation_p.R105W	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	243						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.R170W(1)|p.R243W(1)		endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GCGGCTGGCCGAGAGCCATTG	0.642000													15	111					0	0	0.038395	0	0
PTX4	390667	broad.mit.edu	37	16	1535988	1535988	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr16:1535988G>A	ENST00000447419.2	-	3	1414	c.1389C>T	c.(1387-1389)ggC>ggT	p.G463G	PTX4_ENST00000293922.1_Silent_p.G458G|PTX4_ENST00000440447.2_3'UTR			Q96A99	PTX4_HUMAN	pentraxin 4, long	463	Pentaxin.					extracellular region	metal ion binding	p.G458G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GCACAAATCCGCCTGCTAGTG	0.657000													3	33					0	0	0.004672	0	0
RNF113B	140432	broad.mit.edu	37	13	98828998	98828998	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr13:98828998C>T	ENST00000267291.6	-	1	521	c.493G>A	c.(493-495)Ggc>Agc	p.G165S	FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	165							nucleic acid binding|zinc ion binding	p.G165S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			GAGGAGTTGCCCATGGACGTG	0.647000													5	142					0	0	0.021553	0	0
CCDC88B	283234	broad.mit.edu	37	11	64123092	64123092	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr11:64123092A>G	ENST00000356786.5	+	26	4411	c.4367A>G	c.(4366-4368)aAc>aGc	p.N1456S	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.T561A|CCDC88B_ENST00000301897.4_Missense_Mutation_p.N119S	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1456					microtubule cytoskeleton organization	cytoplasm	microtubule binding	p.N1456S(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACAGATGCCAACCGAGAGGGT	0.577000													8	49					0	0	0.047766	0	0
TSKU	25987	broad.mit.edu	37	11	76506922	76506922	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr11:76506922G>A	ENST00000527881.1	+	2	1288	c.262G>A	c.(262-264)Ggc>Agc	p.G88S	TSKU_ENST00000333090.4_Missense_Mutation_p.G88S			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	88						extracellular region		p.G88S(1)		NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GACGTTGGCTGGCCTGGATCT	0.627000													8	70					0	0	0.047766	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119996	38119996	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr22:38119996G>C	ENST00000406386.3	+	7	1688	c.1433G>C	c.(1432-1434)aGa>aCa	p.R478T		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	478					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.R478T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GACAACCCCAGAACATCCTGT	0.587000													4	128					0	0	0.014758	0	0
USO1	8615	broad.mit.edu	37	4	76692248	76692248	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:76692248G>C	ENST00000538159.1	+	7	519	c.519G>C	c.(517-519)ttG>ttC	p.L173F	USO1_ENST00000514213.2_Missense_Mutation_p.L156F			O60763	USO1_HUMAN	USO1 vesicle transport factor	171	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	p.L99F(1)|p.L173F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTTCAAGATTGATGGACTTAC	0.308000													11	34					0	0	0.093190	0	0
GPC6	10082	broad.mit.edu	37	13	94197591	94197591	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr13:94197591G>A	ENST00000377047.4	+	2	851	c.236G>A	c.(235-237)aGc>aAc	p.S79N		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	79						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.S79N(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				AGCCAACAAAGCAAACTCGAA	0.408000													4	134					0	0	0.009096	0	0
PXDN	7837	broad.mit.edu	37	2	1652125	1652125	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:1652125G>T	ENST00000252804.4	-	17	3477	c.3427C>A	c.(3427-3429)Ctg>Atg	p.L1143M		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1143					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.L1143M(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ATGGAGAACAGCCGCTCCGTG	0.652000													3	31					0.00909568	0.00962043	0.009096	1	0
SKOR1	390598	broad.mit.edu	37	15	68121571	68121571	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr15:68121571C>T	ENST00000380035.2	+	3	2429	c.2371C>T	c.(2371-2373)Ccc>Tcc	p.P791S	SKOR1_ENST00000389002.1_Missense_Mutation_p.P747S|SKOR1_ENST00000341418.5_Missense_Mutation_p.P694S|SKOR1_ENST00000554054.1_Missense_Mutation_p.P763S|SKOR1_ENST00000554240.1_Missense_Mutation_p.P752S			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	791					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	p.P791S(1)|p.P747S(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GGCGCTGGGGCCCGCGGCCTC	0.706000													2	3					0	0	0.004672	0	0
GALNT18	374378	broad.mit.edu	37	11	11394086	11394086	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr11:11394086G>A	ENST00000227756.4	-	6	1479	c.1068C>T	c.(1066-1068)ggC>ggT	p.G356G		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18									p.G356G(1)									CCACATTCTCGCCCCCGTAGA	0.602000													6	57					0	0	0.029380	0	0
MARCH1	55016	broad.mit.edu	37	4	164534483	164534483	+	Silent	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:164534483G>T	ENST00000503008.1	-	5	1201	c.225C>A	c.(223-225)tcC>tcA	p.S75S	MARCH1_ENST00000274056.7_Silent_p.S75S|MARCH1_ENST00000339875.5_Silent_p.S58S|MARCH1_ENST00000514618.1_Silent_p.S75S	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	75					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.S58S(1)|p.S75S(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGTCCTGAGTGGATGGACAGA	0.418000													24	91					4.47668e-21	5.15638e-21	0.091800	1	0
KRTAP12-3	386683	broad.mit.edu	37	21	46078007	46078007	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr21:46078007C>T	ENST00000397907.1	+	1	159	c.111C>T	c.(109-111)ccC>ccT	p.P37P	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	37	14 X 5 AA approximate repeats.					intermediate filament		p.P37P(2)		central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGTGCATGCCCGTGAGCTGCA	0.652000													16	220					0	0	0.033300	0	0
AUTS2	26053	broad.mit.edu	37	7	69583197	69583197	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr7:69583197G>T	ENST00000342771.4	+	3	923	c.602G>T	c.(601-603)aGc>aTc	p.S201I	AUTS2_ENST00000406775.2_Missense_Mutation_p.S201I|AUTS2_ENST00000403018.2_Missense_Mutation_p.S201I	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	201								p.S201I(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CACCGGAGCAGCTCTCGGGAA	0.438000													9	93					0.000274275	0.000294344	0.047766	1	0
ZNF335	63925	broad.mit.edu	37	20	44579219	44579219	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr20:44579219G>C	ENST00000322927.2	-	21	3305	c.3205C>G	c.(3205-3207)Cac>Gac	p.H1069D	ZNF335_ENST00000426788.1_Missense_Mutation_p.H914D	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1069					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H1069D(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				AGGCTTGAGTGCTGTGCCATG	0.597000													30	219					0	0	0.030593	0	0
TOPORS	10210	broad.mit.edu	37	9	32544239	32544239	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:32544239G>A	ENST00000360538.2	-	3	400	c.284C>T	c.(283-285)gCt>gTt	p.A95V	TOPORS_ENST00000379858.1_Missense_Mutation_p.A30V	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	95	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	p.A95V(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AGATGCATCAGCTGGTACTGT	0.388000													7	90					0	0	0.029380	0	0
CDR2	1039	broad.mit.edu	37	16	22385609	22385609	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr16:22385609C>G	ENST00000268383.2	-	1	329	c.22G>C	c.(22-24)Gag>Cag	p.E8Q	CDR2_ENST00000569045.1_Intron	NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	8						nucleus	protein binding	p.E8Q(1)		endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TCAAACTCCTCTACCAGGTTT	0.736000													22	22					0	0	0.083992	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741617	140741617	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:140741617C>T	ENST00000522605.1	+	1	1915	c.1915C>T	c.(1915-1917)Cgc>Tgc	p.R639C	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1												p.R639C(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGCGGCCCGCCAGCGCCT	0.682000													11	20					0	0	0.080935	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40837383	40837383	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr17:40837383C>T	ENST00000264638.4	+	5	877	c.660C>T	c.(658-660)ggC>ggT	p.G220G	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	220	Laminin G-like 1.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	p.G220G(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GCGCCCAGGGCGACTACGTGA	0.662000													39	39					0	0	0.104719	0	0
NES	10763	broad.mit.edu	37	1	156647053	156647053	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:156647053C>G	ENST00000368223.3	-	1	136	c.4G>C	c.(4-6)Gag>Cag	p.E2Q		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	2	Head.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	p.E2Q(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATGCAGCCCTCCATCCTGCTC	0.627000													4	33					0	0	0.009096	0	0
CAPN10	11132	broad.mit.edu	37	2	241536312	241536312	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:241536312C>T	ENST00000391984.2	+	9	1892	c.1696C>T	c.(1696-1698)Cgg>Tgg	p.R566W	CAPN10_ENST00000404753.3_Missense_Mutation_p.R566W|CAPN10_ENST00000354082.4_Intron|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000352879.4_Intron	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	566	Domain III 2.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	p.R566W(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TCAGCACTGCCGGCCCAGTGA	0.647000													27	25					0	0	0.030593	0	0
ESRP1	54845	broad.mit.edu	37	8	95674784	95674784	+	Splice_Site	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr8:95674784G>A	ENST00000433389.2	+	6	834		c.e6+1		ESRP1_ENST00000358397.5_Splice_Site|ESRP1_ENST00000454170.2_Splice_Site|ESRP1_ENST00000423620.2_Splice_Site	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1						mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	p.?(2)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GTGGAACTTGGTAAGTGCTTG	0.348000													14	25					0	0	0.028581	0	0
RYR3	6263	broad.mit.edu	37	15	34105682	34105682	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr15:34105682G>A	ENST00000389232.4	+	74	10474	c.10404G>A	c.(10402-10404)ttG>ttA	p.L3468L	RYR3_ENST00000415757.3_Silent_p.L3463L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3468					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.L3468L(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AACAGCCTTTGAGGTCCAAGA	0.532000													26	97					0	0	0.108266	0	0
SYNE2	23224	broad.mit.edu	37	14	64514796	64514796	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr14:64514796C>T	ENST00000358025.3	+	46	7530	c.7300C>T	c.(7300-7302)Cgg>Tgg	p.R2434W	SYNE2_ENST00000554584.1_Missense_Mutation_p.R2467W|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.R2434W	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2434					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.R2434W(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGAAGATGAGCGGAAAGTCAA	0.323000													10	48					0	0	0.069234	0	0
SEL1L3	23231	broad.mit.edu	37	4	25806347	25806347	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:25806347G>T	ENST00000399878.3	-	10	1714	c.1592C>A	c.(1591-1593)tCa>tAa	p.S531*	SEL1L3_ENST00000264868.5_Nonsense_Mutation_p.S496*|SEL1L3_ENST00000502949.1_Nonsense_Mutation_p.S378*	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	531						integral to membrane	binding	p.S378*(1)|p.S531*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ACCGATTTCTGATACAGATTC	0.403000													4	61					2.56e-06	2.816e-06	0.009096	1	0
PLAUR	5329	broad.mit.edu	37	19	44169567	44169567	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr19:44169567C>G	ENST00000221264.4	-	3	637	c.211G>C	c.(211-213)Gag>Cag	p.E71Q	PLAUR_ENST00000339082.3_Missense_Mutation_p.E71Q|PLAUR_ENST00000340093.3_Missense_Mutation_p.E71Q|PLAUR_ENST00000601723.1_Missense_Mutation_p.E71Q	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	71	UPAR/Ly6 1.				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity	p.E71Q(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	TTGGTCTTCTCTGAGTGGGTA	0.547000													27	82					0	0	0.059317	0	0
BMP2K	55589	broad.mit.edu	37	4	79763561	79763561	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:79763561G>T	ENST00000335016.5	+	4	592	c.426G>T	c.(424-426)atG>atT	p.M142I	BMP2K_ENST00000502871.1_Missense_Mutation_p.M142I	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	142	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity	p.M142I(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						TGAATCAAATGAATAAGAAGC	0.343000													7	45					0.000157383	0.000170563	0.038147	1	0
ARID1A	8289	broad.mit.edu	37	1	27099309	27099309	+	Frame_Shift_Del	DEL	C	C	-	rs138311127		TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:27099309delC	ENST00000324856.7	+	14	3917	c.3546delC	c.(3544-3546)agcfs	p.S1182fs	ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S799fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.S1182fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1182					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGAGCAGGAGCAATTCAGTTG	0.478			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								29	43	---	---	---	---					
PEAR1	375033	broad.mit.edu	37	1	156884482	156884483	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:156884482_156884483insC	ENST00000338302.3	+	24	3231_3232	c.3006_3007insC	c.(3007-3009)cccfs	p.P1003fs	PEAR1_ENST00000292357.7_Frame_Shift_Ins_p.P1003fs			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	1003	Pro-rich.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTCCGGGCCTACCCCCCGGCCA	0.609													17	139	---	---	---	---					
FIGN	55137	broad.mit.edu	37	2	164467360	164467361	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:164467360_164467361insA	ENST00000333129.3	-	3	1295_1296	c.981_982insT	c.(979-984)ggagatfs	p.D328fs	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	328						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GAGTCCATATCTCCTTGCCCTG	0.465													80	88	---	---	---	---					
CCR3	1232	broad.mit.edu	37	3	46306948	46306948	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:46306948delT	ENST00000357422.2	+	4	842	c.299delT	c.(298-300)gttfs	p.V100fs	CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs|CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	100					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CATAACTGGGTTTTTGGCCAT	0.488													9	2458	---	---	---	---					
SLMAP	7871	broad.mit.edu	37	3	57893702	57893702	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:57893702delA	ENST00000295951.3	+	16	2708	c.1491delA	c.(1489-1491)agafs	p.R497fs	SLMAP_ENST00000295952.3_Frame_Shift_Del_p.R497fs|SLMAP_ENST00000428312.1_Frame_Shift_Del_p.R514fs|SLMAP_ENST00000472546.1_Intron|SLMAP_ENST00000449503.2_Frame_Shift_Del_p.R476fs|SLMAP_ENST00000495364.1_Frame_Shift_Del_p.R48fs|SLMAP_ENST00000442599.2_Intron|SLMAP_ENST00000416870.1_Intron|SLMAP_ENST00000494088.1_Intron			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	514					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		AGCTAGCTAGAACAAGTAAAC	0.423													9	72	---	---	---	---					
PDZRN3	23024	broad.mit.edu	37	3	73433413	73433414	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:73433413_73433414insG	ENST00000263666.4	-	10	2417_2418	c.2303_2304insC	c.(2302-2304)ccgfs	p.P768fs	PDZRN3_ENST00000535920.1_Frame_Shift_Ins_p.P490fs|PDZRN3_ENST00000479530.1_Frame_Shift_Ins_p.P485fs|PDZRN3_ENST00000466780.1_Frame_Shift_Ins_p.P425fs|PDZRN3_ENST00000462146.2_Frame_Shift_Ins_p.P425fs	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	768							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CCAGGGTGAGCGGGGTGCTGCG	0.649													12	52	---	---	---	---					
GOLGB1	2804	broad.mit.edu	37	3	121409850	121409851	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:121409850_121409851insTC	ENST00000393667.3	-	14	8470_8471	c.8360_8361insGA	c.(8359-8361)gatfs	p.D2787fs	GOLGB1_ENST00000340645.5_Frame_Shift_Ins_p.D2782fs	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2782					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AAAGAAGAGCATCTCTCTCTCT	0.426													33	124	---	---	---	---					
VPS13B	157680	broad.mit.edu	37	8	100847965	100847973	+	Splice_Site	DEL	AGGTCAGTG	AGGTCAGTG	-			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr8:100847965_100847973delAGGTCAGTG	ENST00000358544.2	+	54	10127_10128	c.10016_10017delAGGTCAGTG	c.(10015-10017)cag>c	p.Q3339del	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Splice_Site_p.Q3314del	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3339					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAGGGAACACAGGTCAGTGAGCCATGTGT	0.402													26	112	---	---	---	---					
B3GNT9	84752	broad.mit.edu	37	16	67184256	67184256	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr16:67184256delC	ENST00000449549.3	-	2	668	c.133delG	c.(133-135)gcgfs	p.A46fs		NM_033309.2	NP_171608.2	Q6UX72	B3GN9_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9	46					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						CTCGGTGCCGCCCTCCCTCGC	0.766													2	4	---	---	---	---					
LRFN3	79414	broad.mit.edu	37	19	36431511	36431517	+	Frame_Shift_Del	DEL	CCAGCTG	CCAGCTG	-			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr19:36431511_36431517delCCAGCTG	ENST00000588831.1	+	3	2238_2244	c.1184_1190delCCAGCTG	c.(1183-1191)accagctgtfs	p.TSC395fs	LRFN3_ENST00000246529.3_Frame_Shift_Del_p.TSC395fs			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	395					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCAACAGCACCAGCTGTGACCCCCCG	0.671													36	68	---	---	---	---					
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr20:56099187delT	ENST00000608263.1	-	1	736	c.75delA	c.(73-75)aaafs	p.K25fs	CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000423479.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608425.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608440.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000608158.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000481655.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000609232.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like						cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502													7	723	---	---	---	---