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
CEP170P1	645455	broad.mit.edu	37	4	119473413	119473413	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr4:119473413A>G	uc003icb.3	+	6	644	c.560A>G	c.(559-561)cAg>cGg	p.Q187R						Homo sapiens centrosomal protein 170kDa pseudogene 1 (CEP170P1), non-coding RNA.																		TCTATCTTACAGGAACTGAAA	0.318000													6	10					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	Missense_Mutation	SNP	C	C	T	rs141013110		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr6:26422353C>T	uc011dkl.1	+	0	37	c.7C>T	c.(7-9)Cca>Tca	p.P3S	BTN2A3P_uc011dkm.2_Non-coding_Transcript					Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA.									p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													6	270					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76570856	76570856	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr17:76570856C>T	uc010dhp.2	-	1	409	c.284G>A	c.(283-285)cGg>cAg	p.R95Q		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTAAAGGAGCCGGGCCCTGTA	0.597000													5	161					0	0	1	0	0
FAM86C1	55199	broad.mit.edu	37	8	8096026	8096026	+	RNA	SNP	T	T	G			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr8:8096026T>G	uc011kwt.2	+	7		c.1221T>G			FAM86C1_uc010lrq.2_Intron|FAM86C1_uc003wsf.4_Intron			Q9NVL1	FA86C_HUMAN	Homo sapiens family with sequence similarity 86, member A pseudogene (FLJ10661), transcript variant 1, non-coding RNA.											lung(1)	1						TGACCCCTGATGCATAGCCCT	0.667000													4	16					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414581	68414581	+	RNA	SNP	T	T	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr9:68414581T>A	uc004aex.3	+	0		c.1136T>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		tactgaatattttaatcccac	0.353000													7	25					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40730876	40730876	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr20:40730876C>T	uc002xkg.3	-	25	3786	c.3602G>A	c.(3601-3603)cGg>cAg	p.R1201Q	PTPRT_uc010ggj.3_Missense_Mutation_p.R1220Q|PTPRT_uc010ggi.3_Missense_Mutation_p.R404Q	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1201	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATCATGGTTCCGGGGCAGGAG	0.557000													37	81					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68413534	68413534	+	RNA	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr9:68413534G>A	uc004aex.3	+	0		c.89G>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		TTCCAGCAAAGCGGGCTCTTC	0.617000													3	23					0	0	1	0	0
SRP19	6728	broad.mit.edu	37	5	112198213	112198213	+	Missense_Mutation	SNP	G	G	T	rs77541650		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr5:112198213G>T	uc003kqc.3	+	1	239	c.50G>T	c.(49-51)tGt>tTt	p.C17F	SRP19_uc021yck.1_Intron|SRP19_uc003kqb.2_Missense_Mutation_p.C17F|SRP19_uc021ycl.1_Missense_Mutation_p.C17F|SRP19_uc011cvu.2_Missense_Mutation_p.C17F	NM_003135	NP_003126	P09132	SRP19_HUMAN	Homo sapiens signal recognition particle 19kDa (SRP19), transcript variant 1, mRNA.	17					SRP-dependent cotranslational protein targeting to membrane|response to drug	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding			breast(1)|cervix(1)|large_intestine(1)	3		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		AGGTTTATTTGTATCTATCCT	0.458000													4	35					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124887093	124887093	+	Silent	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr12:124887093C>T	uc021rga.1	-	13	1614	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	NCOR2_uc021rgb.1_Silent_p.Q499Q|NCOR2_uc010tbb.2_Silent_p.Q499Q|NCOR2_uc010tbc.2_Silent_p.Q498Q|NCOR2_uc021rgc.1_Silent_p.Q498Q|NCOR2_uc010tba.2_Silent_p.Q499Q|NCOR2_uc001ugj.1_Silent_p.Q499Q	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	499	Poly-Gln.				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity	p.Q499Q(14)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		gctgctgctgctgttgttgct	0.617000													3	30					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr8:12957624C>G	uc003wwm.2	-	8	2666	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_uc003wwk.1_Missense_Mutation_p.S304T|DLC1_uc003wwl.1_Missense_Mutation_p.S338T|DLC1_uc011kxx.1_Missense_Mutation_p.S230T	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	741	Poly-Ser.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627000													5	96					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													5	97					0	0	1	0	0
KRTAP19-6	337973	broad.mit.edu	37	21	31914007	31914007	+	Missense_Mutation	SNP	C	C	T	rs146590456		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr21:31914007C>T	uc002yok.1	-	0	175	c.146G>A	c.(145-147)cGt>cAt	p.R49H		NM_181612	NP_853643	Q3LI70	KR196_HUMAN	Homo sapiens keratin associated protein 19-6 (KRTAP19-6), mRNA.	49						intermediate filament		p.R49H(2)		breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						ATATCCTTCACGGCATGATGG	0.493000													133	161					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63852608	63852608	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr10:63852608G>C	uc001jlt.2	+	9	3842	c.3386G>C	c.(3385-3387)gGa>gCa	p.G1129A	ARID5B_uc001jlu.2_Missense_Mutation_p.G886A	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	1129					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					ATGCAAAGAGGAATTTTTACA	0.478000													6	143					0	0	1	0	0
SNAR-C3	100170226	broad.mit.edu	37	19	48453664	48453664	+	RNA	SNP	A	A	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr19:48453664A>T	uc010xzb.1	+	0		c.112A>T								Homo sapiens small ILF3/NF90-associated RNA C3 (SNAR-C3), small nuclear RNA.																		TGAAAAAAAAATTTTTTTATC	0.468000													3	18					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149500558	149500558	+	Missense_Mutation	SNP	G	G	C	rs67186817		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr5:149500558G>C	uc003lro.3	-	17	2948	c.2479C>G	c.(2479-2481)Ctg>Gtg	p.L827V	PDGFRB_uc010jhd.3_Missense_Mutation_p.L666V	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	827	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTAGCCGCCAGGTCTCTGTGG	0.542000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								35	46					0	0	1	0	0
FDX1	2230	broad.mit.edu	37	11	110327746	110327746	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr11:110327746G>A	uc001pkx.3	+	2	599	c.415G>A	c.(415-417)Gat>Aat	p.D139N		NM_004109	NP_004100	P10109	ADX_HUMAN	Homo sapiens ferredoxin 1 (FDX1), nuclear gene encoding mitochondrial protein, mRNA.	139	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding			lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	TGACATGCTCGATCTGGCATA	0.383000													10	80					0	0	1	0	0
TRA2B	6434	broad.mit.edu	37	3	185643403	185643403	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr3:185643403C>G	uc003fpv.3	-	2	458	c.182G>C	c.(181-183)aGa>aCa	p.R61T	TRA2B_uc003fpt.3_5'Flank|TRA2B_uc003fpu.3_Non-coding_Transcript|TRA2B_uc010hym.3_5'UTR	NM_004593	NP_001230808	P62995	TRA2B_HUMAN	Homo sapiens transformer 2 beta homolog (Drosophila) (TRA2B), transcript variant 1, mRNA.	61	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	RNA binding|nucleotide binding|protein binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						GGAGCTTCTTCTGGATCTAGA	0.458000													11	67					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43772665	43772665	+	Splice_Site	SNP	G	G	T	rs34084603	byFrequency	TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:43772665G>T	uc001ciu.3	+	4	817	c.640_splice	c.e4+1	p.G214_splice	TIE1_uc010okd.2_Splice_Site_p.G214_splice|TIE1_uc010oke.2_Splice_Site_p.G169_splice|TIE1_uc009vwq.3_Splice_Site_p.A214_splice|TIE1_uc010okf.1_Splice_Site|TIE1_uc010okg.2_5'Flank|TIE1_uc010okb.2_Silent_p.R213R|TIE1_uc010okc.2_Splice_Site_p.G214_splice	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	214	EGF-like 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCATCGTGCGGGGTCAGAGGC	0.637000													5	142					0	0	1	0	0
TBC1D17	79735	broad.mit.edu	37	19	50384528	50384528	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr19:50384528C>G	uc002pqo.3	+	4	622	c.323C>G	c.(322-324)gCa>gGa	p.A108G	TBC1D17_uc010enn.2_Non-coding_Transcript|TBC1D17_uc010ybg.2_Missense_Mutation_p.A75G|TBC1D17_uc002pqp.3_5'UTR|TBC1D17_uc002pqr.3_5'UTR	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA.	108						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TCCCTAGGTGCAGAGCCCAGC	0.632000													3	25					0	0	1	0	0
VPS28	51160	broad.mit.edu	37	8	145649436	145649436	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr8:145649436G>A	uc003zct.1	-	8	626	c.536C>T	c.(535-537)aCg>aTg	p.T179M	VPS28_uc003zcs.1_Missense_Mutation_p.T179M	NM_183057	NP_898880	Q9UK41	VPS28_HUMAN	Homo sapiens vacuolar protein sorting 28 homolog (S. cerevisiae) (VPS28), transcript variant 2, mRNA.	179	VPS28 C-terminal.				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTGGCTGACCGTCTGGCGGCC	0.692000													10	291					0	0	1	0	0
CPSF3L	54973	broad.mit.edu	37	1	1248278	1248278	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:1248278C>T	uc001aef.1	-	13	1714	c.1201G>A	c.(1201-1203)Gcc>Acc	p.A401T	CPSF3L_uc009vjy.1_Non-coding_Transcript|CPSF3L_uc001aee.1_Missense_Mutation_p.A395T|CPSF3L_uc009vjz.1_Missense_Mutation_p.A373T|CPSF3L_uc010nyj.1_Missense_Mutation_p.A366T|CPSF3L_uc001aeg.1_Missense_Mutation_p.A271T|CPSF3L_uc001aeh.1_Missense_Mutation_p.A294T|CPSF3L_uc001aei.1_Missense_Mutation_p.A297T|CPSF3L_uc001aek.1_Missense_Mutation_p.A137T			Q5TA45	INT11_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 3-like (CPSF3L), mRNA.	395						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		ATGCCCTTGGCGTCCGCGTGT	0.617000													51	51					0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30954710	30954710	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr6:30954710G>A	uc003nsh.2	+	1	1009	c.758G>A	c.(757-759)gGc>gAc	p.G253D	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.G237D	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	253	28 X 15 AA approximate tandem repeats.|Ser-rich.		G -> S (in dbSNP:rs41288655).			integral to membrane|plasma membrane		p.G253D(2)|p.G253S(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGTGGGGCCGGCACAGCCACC	0.637000													9	1507					0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106653564	106653564	+	RNA	SNP	A	A	G			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr14:106653564A>G	uc021ser.1	-	1432		c.28679T>C								Parts of antibodies, mostly variable regions.																		GACCCAGTTCATGTCACTGTT	0.587000													22	193					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577550	7577550	+	Missense_Mutation	SNP	C	C	T	rs28934572		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr17:7577550C>T	uc002gim.2	-	6	925	c.731G>A	c.(730-732)gGc>gAc	p.G244D	TP53_uc002gig.1_Missense_Mutation_p.G244D|TP53_uc002gih.3_Missense_Mutation_p.G244D|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G112D|TP53_uc010cnf.1_Missense_Mutation_p.G112D|TP53_uc002gii.1_Missense_Mutation_p.G112D|TP53_uc010cni.1_Missense_Mutation_p.G244D|TP53_uc010cnh.1_Missense_Mutation_p.G244D|TP53_uc002gij.2_Missense_Mutation_p.G244D|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G151D|TP53_uc002gio.2_Missense_Mutation_p.G112D|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	244	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G244D(89)|p.G244C(37)|p.G244S(37)|p.G244V(28)|p.G244A(18)|p.G244G(13)|p.M243L(10)|p.0?(8)|p.M243I(7)|p.G244fs*3(5)|p.M243T(5)|p.?(5)|p.G151D(4)|p.G244_M246>V(4)|p.G244fs*4(4)|p.G244R(4)|p.M243V(3)|p.G244fs*19(2)|p.G244fs*17(2)|p.C242_M246>L(2)|p.C238_M246delCNSSCMGGM(2)|p.M243K(2)|p.M243R(2)|p.G244del(2)|p.M243fs*18(2)|p.G244E(2)|p.S241_G245delSCMGG(2)|p.G244_M246del(1)|p.Y236_M243delYMCNSSCM(1)|p.G151fs*4(1)|p.M243fs*4(1)|p.C242fs*98(1)|p.M243_G244>IC(1)|p.G151_M153>V(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTTCATGCCGCCCATGCAGGA	0.577000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			54	2					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215823955	215823955	+	Missense_Mutation	SNP	G	G	C	rs147037435	byFrequency	TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:215823955G>C	uc001hku.1	-	64	14709	c.14322C>G	c.(14320-14322)agC>agG	p.S4774R		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4774	Fibronectin type-III 33.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.S4774N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCCCATGGGCGCTGCTGGAGA	0.483000										HNSCC(13;0.011)			5	155					0	0	1	0	0
KRT72	140807	broad.mit.edu	37	12	52985408	52985408	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr12:52985408A>C	uc001sar.2	-	4	889	c.803T>G	c.(802-804)aTc>aGc	p.I268S	KRT72_uc001saq.2_Missense_Mutation_p.I268S|KRT72_uc010sns.1_Missense_Mutation_p.I268S|KRT72_uc010snt.1_Missense_Mutation_p.I80S	NM_001146225	NP_542785	Q14CN4	K2C72_HUMAN	Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA.	268	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GATCTGAGTGATCTCCTGGGG	0.577000													14	88					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48494835	48494835	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr7:48494835T>G	uc003toq.2	+	42	12791	c.12767T>G	c.(12766-12768)cTc>cGc	p.L4256R	ABCA13_uc010kys.1_Missense_Mutation_p.L1330R|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Missense_Mutation_p.L16R	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4256					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TACCCTCCCCTCAGACTCACA	0.542000													4	35					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140793312	140793312	+	Silent	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr5:140793312C>T	uc003lkl.2	+	0	570	c.570C>T	c.(568-570)gcC>gcT	p.A190A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Silent_p.A190A	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	186	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGCCGTGCCAATGGCGTCA	0.597000													19	35					0	0	1	0	0
BC012753	0	broad.mit.edu	37	GL000214.1	30605	30605	+	RNA	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chrGL000214.1:30605C>T	uc011mfm.2	+	0		c.225C>T								Homo sapiens cDNA clone IMAGE:3625232, partial cds.																		GGATGACAGGCGTGTGGTCCT	0.692000													4	15					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50959892	50959892	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr10:50959892G>A	uc009xog.3	-	4	845	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	OGDHL_uc001jie.3_Missense_Mutation_p.R244W|OGDHL_uc010qgt.2_Missense_Mutation_p.R187W|OGDHL_uc010qgu.2_Missense_Mutation_p.R35W|OGDHL_uc009xoh.2_Missense_Mutation_p.R35W	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	244					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R244R(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CGCACTAGCCGGGCCAGCAGG	0.612000													95	91					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68413573	68413573	+	RNA	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr9:68413573G>A	uc004aex.3	+	0		c.128G>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		CAGTGGCGCCGGATCTAGGAA	0.597000													6	35					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26627888	26627888	+	Silent	SNP	G	G	A	rs143947423		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr8:26627888G>A	uc003xfc.1	-	1	1615	c.1179C>T	c.(1177-1179)ggC>ggT	p.G393G	ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Silent_p.G393G|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Silent_p.G393G|ADRA1A_uc003xfh.1_Silent_p.G393G	NM_033303	NP_150646	P35348	ADA1A_HUMAN	Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	393					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	ATTCACAAACGCCATCCGTCT	0.552000													104	102					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3638132	3638132	+	Silent	SNP	C	C	T	rs149392793	by1000genomes	TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr17:3638132C>T	uc002fwo.4	-	20	2733	c.2634G>A	c.(2632-2634)ctG>ctA	p.L878L		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	878					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TCTTCAACTGCAGGTTTCTGG	0.542000													114	17					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1093292	1093292	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr11:1093292C>T	uc001lsx.1	+	30	5138	c.5111C>T	c.(5110-5112)aCc>aTc	p.T1704I		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1744	Approximate repeats.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	atcaccaccaccactacggtg	0.637000													4	20					0	0	1	0	0
LOC399753	399753	broad.mit.edu	37	10	49218553	49218553	+	Missense_Mutation	SNP	T	T	C	rs77581903		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr10:49218553T>C	uc001jgd.3	-	7	1745	c.1586A>G	c.(1585-1587)cAt>cGt	p.H529R	DQ588224_uc001jge.1_5'Flank					Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA.																		ATATTTGGAATGGATCCAGCG	0.567000													8	199					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49395266	49395266	+	Silent	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr10:49395266G>A	uc001jgi.3	-	16	2566	c.2235C>T	c.(2233-2235)ctC>ctT	p.L745L	FRMPD2_uc001jgh.3_Silent_p.L713L|FRMPD2_uc001jgj.3_Silent_p.L714L	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	745					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GTGGTCCAGAGAGAGAGTCCC	0.562000													14	35					0	0	1	0	0
TSSC1	7260	broad.mit.edu	37	2	3341870	3341870	+	Silent	SNP	G	G	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr2:3341870G>T	uc002qxj.2	-	2	370	c.177C>A	c.(175-177)gtC>gtA	p.V59V		NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN	Homo sapiens tumor suppressing subtransferable candidate 1 (TSSC1), mRNA.	59							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		GATGGAGGAGGACATTTTTAT	0.413000													38	1					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	Silent	SNP	T	T	A	rs145494190	by1000genomes	TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr7:142482229T>A	uc011ksq.2	+	4	692	c.609T>A	c.(607-609)ccT>ccA	p.P203P	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.									p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493000													3	33					0	0	1	0	0
GSG2	83903	broad.mit.edu	37	17	3627230	3627230	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr17:3627230A>G	uc002fwp.3	+	0	34	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	ITGAE_uc002fwo.4_Intron|ITGAE_uc002fwn.4_5'Flank	NM_031965	NP_114171	Q8TF76	HASP_HUMAN	Homo sapiens germ cell associated 2 (haspin) (GSG2), mRNA.	1					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										GGTGCCGGCCATGGCGGCTTC	0.731000													35	4					0	0	1	0	0
C1RL	51279	broad.mit.edu	37	12	7249404	7249404	+	Silent	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr12:7249404G>A	uc001qsn.3	-	5	1140	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	C1RL_uc009zft.3_3'UTR	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	Homo sapiens complement component 1, r subcomponent-like (C1RL), mRNA.	349	Peptidase S1.			I -> M (in Ref. 3; BAD96522).	complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGCCCAGGGGGATGCTGTGCT	0.612000													5	71					0	0	1	0	0
ZFP36L2	678	broad.mit.edu	37	2	43452192	43452192	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr2:43452192G>A	uc002rsv.4	-	1	1042	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 2 (ZFP36L2), mRNA.	251					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				AACTTGGGCCGCGGCTCCCGC	0.761000													29	22					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136575373	136575373	+	Silent	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr2:136575373C>T	uc002tuu.1	-	5	1256	c.1245G>A	c.(1243-1245)agG>agA	p.R415R		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	415	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.R414C(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGTTCAGGGGCCTGCGTGGAT	0.652000													61	94					0	0	1	0	0
MAN2C1	4123	broad.mit.edu	37	15	75654730	75654730	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr15:75654730G>A	uc002bah.3	-	7	979	c.962C>T	c.(961-963)gCg>gTg	p.A321V	MAN2C1_uc010bkk.3_Missense_Mutation_p.A222V|MAN2C1_uc002baf.3_Missense_Mutation_p.A321V|MAN2C1_uc002bag.3_Missense_Mutation_p.A321V|MAN2C1_uc010umi.1_Missense_Mutation_p.A103V|MAN2C1_uc010umj.1_Non-coding_Transcript			Q9NTJ4	MA2C1_HUMAN	Homo sapiens mannosidase, alpha, class 2C, member 1 (MAN2C1), mRNA.	321					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CCCACGGCACGCAAACTCCTG	0.612000													4	31					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21084273	21084273	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr22:21084273C>A	uc002zsz.4	-	36	4402	c.4141G>T	c.(4141-4143)Gac>Tac	p.D1381Y	PI4KA_uc002zsy.4_Missense_Mutation_p.D191Y	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	1381					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ACAGTTATGTCCAGGTTGCTC	0.493000													28	33					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157660318	157660318	+	Missense_Mutation	SNP	C	C	G	rs143813895		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:157660318C>G	uc001fqz.4	-	8	1709	c.1417G>C	c.(1417-1419)Gtg>Ctg	p.V473L	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Missense_Mutation_p.V199L|FCRL3_uc001frb.3_Missense_Mutation_p.V473L|FCRL3_uc001frc.1_Missense_Mutation_p.V473L	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	473						integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GGGCGAGACACCGGAACTGAG	0.537000													10	113					0	0	1	0	0
SMC1A	8243	broad.mit.edu	37	X	53432009	53432009	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chrX:53432009G>A	uc004dsg.3	-	12	2200	c.2131C>T	c.(2131-2133)Cgg>Tgg	p.R711W	SMC1A_uc011moe.2_Missense_Mutation_p.R689W|SMC1A_uc011mof.2_Missense_Mutation_p.R477W	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.	711			R -> Q (in CDLS2).|R -> W (in CDLS2).		DNA repair|cell cycle checkpoint|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	p.R711W(2)|p.R711L(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TACTTGAGCCGCATCTGCAGT	0.562000													21	4					0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7725547	7725547	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr4:7725547G>A	uc003gkb.4	+	18	2548	c.2548G>A	c.(2548-2550)Gtg>Atg	p.V850M	SORCS2_uc011bwi.2_Missense_Mutation_p.V678M	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	850	PKD.					integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CATCTACCGCGTGTCCGTCAG	0.602000													81	73					0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42164751	42164751	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr20:42164751C>T	uc002xkn.1	+	10	1078	c.947C>T	c.(946-948)cCt>cTt	p.P316L	L3MBTL1_uc010zwh.2_Missense_Mutation_p.P625L|L3MBTL1_uc002xkm.3_Missense_Mutation_p.P557L|L3MBTL1_uc010ggl.3_Missense_Mutation_p.P562L|L3MBTL1_uc002xkl.3_Missense_Mutation_p.P557L|L3MBTL1_uc002xko.3_Missense_Mutation_p.P209L	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant I, mRNA.	557					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	SAM domain binding|identical protein binding|methylated histone residue binding|nucleosomal histone binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TGCCCCACTCCTGGTTGCGAC	0.597000													5	63					0	0	1	0	0
RAB25	57111	broad.mit.edu	37	1	156039516	156039516	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:156039516A>G	uc001fnc.3	+	3	714	c.488A>G	c.(487-489)gAg>gGg	p.E163G		NM_020387	NP_065120	P57735	RAB25_HUMAN	Homo sapiens RAB25, member RAS oncogene family (RAB25), mRNA.	163					positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					ACCAATGTTGAGCTAGCCTTT	0.498000													11	471					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141044588	141044588	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr5:141044588C>T	uc003llm.3	-	18	2779	c.2701G>A	c.(2701-2703)Gcg>Acg	p.A901T	ARAP3_uc003lll.3_5'UTR|ARAP3_uc011dbe.2_Missense_Mutation_p.A563T|ARAP3_uc003lln.3_Missense_Mutation_p.A803T	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	901					cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCACCAGCCGCGCCCCCAATG	0.637000											OREG0016871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	22					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57589461	57589461	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr12:57589461G>A	uc001snd.3	+	52	8924	c.8458G>A	c.(8458-8460)Gac>Aac	p.D2820N		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2820	LDL-receptor class A 18.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|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			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)	CACTTGTGACGACCGTGAGTT	0.602000													38	40					0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52612494	52612494	+	Silent	SNP	G	G	A	rs146823292		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr20:52612494G>A	uc002xws.2	-	4	1157	c.819C>T	c.(817-819)gaC>gaT	p.D273D	BCAS1_uc010zza.1_5'UTR|BCAS1_uc010zzb.1_Silent_p.D176D|BCAS1_uc010gim.2_Silent_p.D176D|BCAS1_uc002xwt.2_Silent_p.D273D|BCAS1_uc010gil.1_Silent_p.D273D	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	273						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CCTGGGAATCGTCCTTTGCAG	0.463000													39	80					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262055	45262055	+	Missense_Mutation	SNP	C	C	A	rs56377228		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr5:45262055C>A	uc003jok.3	-	7	2666	c.2641G>T	c.(2641-2643)Gca>Tca	p.A881S		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	881						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.D880D(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGCTTTTCTGCGTCTGGGTCT	0.473000													11	164					0	0	1	0	0
CR627148	0	broad.mit.edu	37	9	66466165	66466165	+	RNA	SNP	T	T	C			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr9:66466165T>C	uc004aec.3	+	2		c.798T>C								Homo sapiens, clone IMAGE:5213378, mRNA.																		GTTTGAAGAATTGTACATGGT	0.393000													4	12					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9934842	9934842	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr16:9934842C>A	uc010uym.2	-	6	1758	c.1448G>T	c.(1447-1449)gGg>gTg	p.G483V	GRIN2A_uc002czo.4_Missense_Mutation_p.G483V|GRIN2A_uc010uyn.2_Missense_Mutation_p.G326V|GRIN2A_uc002czr.4_Missense_Mutation_p.G483V	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	483					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCCATGCTTCCCATTGGTCAC	0.428000													37	109					0	0	1	0	0
WASF3	10810	broad.mit.edu	37	13	27257060	27257060	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr13:27257060C>T	uc001uqv.3	+	8	1525	c.1300C>T	c.(1300-1302)Cag>Tag	p.Q434*	WASF3_uc001uqw.3_Nonsense_Mutation_p.Q431*	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	434					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		AGAGCCTGCACAGCCACCAAT	0.612000													5	135					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64112227	64112227	+	Silent	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr11:64112227G>A	uc001nzy.3	+	13	2263	c.2214G>A	c.(2212-2214)agG>agA	p.R738R	CCDC88B_uc009ypo.2_Silent_p.R735R|CCDC88B_uc001nzz.1_Silent_p.R387R	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	738					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CACAGTTGAGGAGAAAGGCTG	0.652000													4	37					0	0	1	0	0
OTUB1	55611	broad.mit.edu	37	11	63764986	63764986	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr11:63764986C>T	uc001nyf.1	+	6	1388	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	OTUB1_uc001nyg.1_Missense_Mutation_p.R305W|OTUB1_uc010rna.1_Missense_Mutation_p.R271W|OTUB1_uc009ypb.1_Missense_Mutation_p.R232W	NM_017670	NP_060140	Q96FW1	OTUB1_HUMAN	Homo sapiens OTU domain, ubiquitin aldehyde binding 1 (OTUB1), transcript variant 1, mRNA.	262	OTU.				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						CCTTCTCTACCGGCCTGGACA	0.617000													58	109					0	0	1	0	0
NOC4L	79050	broad.mit.edu	37	12	132633385	132633385	+	Silent	SNP	G	G	A	rs144597773		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr12:132633385G>A	uc001ujz.1	+	8	887	c.846G>A	c.(844-846)ccG>ccA	p.P282P		NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	Homo sapiens nucleolar complex associated 4 homolog (S. cerevisiae) (NOC4L), mRNA.	282					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CCATCCTGCCGCAGCTGGCGC	0.701000													19	17					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418191	105418191	+	Silent	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr14:105418191G>A	uc010axc.1	-	6	3717	c.3597C>T	c.(3595-3597)ctC>ctT	p.L1199L	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.L1099L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1199						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCATGGAGGGGAGACTCACGT	0.632000													6	485					0	0	1	0	0
LYZL4	131375	broad.mit.edu	37	3	42448441	42448441	+	Silent	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr3:42448441G>A	uc003cle.3	-	2	438	c.189C>T	c.(187-189)taC>taT	p.Y63Y		NM_144634	NP_653235	Q96KX0	LYZL4_HUMAN	Homo sapiens lysozyme-like 4 (LYZL4), mRNA.	63					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		GTGTGTTCTCGTAGATGGCCA	0.552000													34	56					0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	86001097	86001097	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr10:86001097G>C	uc001kcz.1	-	0	121	c.99C>G	c.(97-99)atC>atG	p.I33M		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	33	LRRNT.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CATCACCCATGATATGGAGGC	0.642000													6	64					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404416	20404416	+	Silent	SNP	T	T	C			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr14:20404416T>C	uc001vwj.2	+	0	650	c.591T>C	c.(589-591)atT>atC	p.I197I		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E196K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AAATGGAAATTATGACCCTAA	0.453000													3	38					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154318722	154318722	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:154318722C>T	uc001fex.3	+	24	2893	c.2893C>T	c.(2893-2895)Cgg>Tgg	p.R965W		NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	951					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCCCGAGCAGCGGAGCATGGA	0.577000													101	105					0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5760801	5760801	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr7:5760801C>A	uc003sox.2	-	8	1766	c.1507G>T	c.(1507-1509)Gac>Tac	p.D503Y	RNF216_uc010ksz.2_Missense_Mutation_p.D68Y|RNF216_uc010kta.2_Missense_Mutation_p.D68Y|RNF216_uc003soy.2_Missense_Mutation_p.D446Y|RNF216_uc011jwj.2_Missense_Mutation_p.D68Y	NM_207111	NP_996994	Q9NWF9	RN216_HUMAN	Homo sapiens ring finger protein 216 (RNF216), transcript variant 1, mRNA.	446					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		ATTTTTATGTCACCTAGAAGA	0.458000													4	62					0	0	1	0	0
OR6C2	341416	broad.mit.edu	37	12	55846759	55846759	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr12:55846759C>G	uc001sgz.1	+	0	762	c.762C>G	c.(760-762)atC>atG	p.I254M		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C253Y(1)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						GAAGCTGCATCTTCATCTATA	0.423000													26	69					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr12:132547087G>A	uc001ujn.3	+	46	8327	c.8175G>A	c.(8173-8175)caG>caA	p.Q2725Q	EP400_uc021rgq.1_Silent_p.Q2724Q|EP400_uc001ujm.3_Silent_p.Q2644Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2761	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(32)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													4	111					0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151845550	151845550	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr7:151845550C>T	uc003wla.3	-	51	13681	c.13462G>A	c.(13462-13464)Gcc>Acc	p.A4488T	MLL3_uc003wkz.3_Missense_Mutation_p.A3606T|MLL3_uc003wkx.3_Missense_Mutation_p.A646T|MLL3_uc003wky.3_Missense_Mutation_p.A2052T	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4488					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCTTTAATGGCGCAAGTGAAG	0.423000			N		medulloblastoma								82	88					0	0	1	0	0
EPB49	2039	broad.mit.edu	37	8	21931326	21931326	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr8:21931326A>C	uc022asw.1	+	8	853	c.815A>C	c.(814-816)gAc>gCc	p.D272A	EPB49_uc022asq.1_Missense_Mutation_p.D272A|EPB49_uc011kys.1_Missense_Mutation_p.D232A|EPB49_uc022asr.1_Missense_Mutation_p.D272A|EPB49_uc022ass.1_Missense_Mutation_p.D247A|EPB49_uc022ast.1_Missense_Mutation_p.D272A|EPB49_uc022asu.1_Missense_Mutation_p.D272A|EPB49_uc022asv.1_Missense_Mutation_p.D272A|EPB49_uc022asx.1_Missense_Mutation_p.D272A|EPB49_uc022asy.1_Missense_Mutation_p.D247A	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	272	Interaction with RASGRF2.				actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		TCTCTGCCTGACCGGACACCC	0.522000													28	67					0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	68084769	68084769	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr8:68084769T>G	uc003xxi.3	+	24	3068	c.3037T>G	c.(3037-3039)Ttt>Gtt	p.F1013V	CSPP1_uc003xxj.3_Missense_Mutation_p.F978V|CSPP1_uc003xxk.3_Missense_Mutation_p.F633V|CSPP1_uc010lyw.3_Missense_Mutation_p.F73V	NM_024790	NP_079066	Q1MSJ5	CSPP1_HUMAN	Homo sapiens centrosome and spindle pole associated protein 1 (CSPP1), mRNA.	1013						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TGTTCATGATTTTAATGAGCT	0.388000													12	27					0	0	1	0	0
GOLGA6L5	374650	broad.mit.edu	37	15	85056021	85056021	+	RNA	SNP	T	T	C	rs1062001		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr15:85056021T>C	uc002bkm.2	-	5		c.539A>G								Homo sapiens golgin A6 family-like 5 (pseudogene) (GOLGA6L5), non-coding RNA.																		GTAGCTGCTCTACCTTAGATG	0.502000													4	36					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160999636	160999636	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr6:160999636G>A	uc003qtl.3	-	27	4510	c.4390C>T	c.(4390-4392)Cga>Tga	p.R1464*		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3972	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACTGGACATCGTGTCAGGTTG	0.527000													78	87					0	0	1	0	0
PCDHB18	54660	broad.mit.edu	37	5	140615827	140615827	+	Silent	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr5:140615827C>T	uc003ljc.1	+	0	1890	c.1542C>T	c.(1540-1542)aaC>aaT	p.N514N						Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA.											endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CGCTGCAGAACGGCTCGGCGC	0.711000													89	109					0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3128656	3128656	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr20:3128656C>A	uc021vzx.1	-	0	1061	c.1061G>T	c.(1060-1062)cGc>cTc	p.R354L	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Missense_Mutation_p.R354L	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	354					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						CACTAAGGAGCGACTACTCAG	0.403000													10	104					0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5752492	5752492	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr7:5752492C>A	uc003sox.2	-	11	2095	c.1836G>T	c.(1834-1836)ttG>ttT	p.L612F	RNF216_uc010ksz.2_Missense_Mutation_p.L177F|RNF216_uc010kta.2_Missense_Mutation_p.L177F|RNF216_uc003soy.2_Missense_Mutation_p.L555F|RNF216_uc011jwj.2_Missense_Mutation_p.L177F	NM_207111	NP_996994	Q9NWF9	RN216_HUMAN	Homo sapiens ring finger protein 216 (RNF216), transcript variant 1, mRNA.	555					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AGCTGAGCTCCAACTAGAAAA	0.423000													6	54					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166165867	166165867	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr2:166165867T>A	uc002udc.3	+	5	901	c.611T>A	c.(610-612)gTg>gAg	p.V204E	SCN2A_uc002udd.3_Missense_Mutation_p.V204E|SCN2A_uc002ude.3_Intron	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	204					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Y203H(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TACAGATATGTGACAGAGTTT	0.428000													35	22					0	0	1	0	0
ARSB	411	broad.mit.edu	37	5	78280984	78280984	+	Silent	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr5:78280984G>A	uc003kfq.3	-	0	1374	c.88C>T	c.(88-90)Ctg>Ttg	p.L30L	ARSB_uc003kfr.4_Silent_p.L30L	NM_000046	NP_000037	P15848	ARSB_HUMAN	Homo sapiens arylsulfatase B (ARSB), transcript variant 1, mRNA.	30					lysosomal transport|lysosome organization	lysosome	N-acetylgalactosamine-4-sulfatase activity|arylsulfatase activity|metal ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		gccAACAACAGCAGCAGCAGC	0.751000													4	22					0	0	1	0	0
SGMS2	166929	broad.mit.edu	37	4	108816771	108816771	+	Missense_Mutation	SNP	C	C	A	rs17038204	byFrequency	TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr4:108816771C>A	uc003hyo.3	+	1	701	c.62C>A	c.(61-63)aCg>aAg	p.T21K	SGMS2_uc003hyl.4_Missense_Mutation_p.T21K|AK123292_uc003hym.1_Intron|SGMS2_uc003hyn.3_Missense_Mutation_p.T21K	NM_152621	NP_689834	Q8NHU3	SMS2_HUMAN	Homo sapiens sphingomyelin synthase 2 (SGMS2), transcript variant 1, mRNA.	21			T -> M (in dbSNP:rs17038204).		sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	AGTGATCCTACGAACACTTAT	0.423000													11	125					0	0	1	0	0
IFI16	3428	broad.mit.edu	37	1	159002348	159002348	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:159002348C>T	uc001ftg.3	+	6	1486	c.1196C>T	c.(1195-1197)cCc>cTc	p.P399L	IFI16_uc010pis.2_Missense_Mutation_p.P343L|IFI16_uc010pit.2_Missense_Mutation_p.P399L	NM_005531	NP_005522	Q16666	IF16_HUMAN	Homo sapiens interferon, gamma-inducible protein 16 (IFI16), transcript variant 2, mRNA.	399					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|cell proliferation|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					AACAATGACCCCAAGAGCATG	0.428000													31	40					0	0	1	0	0
GLYCTK	132158	broad.mit.edu	37	3	52324395	52324395	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr3:52324395C>T	uc003ddo.3	+	1	133	c.37C>T	c.(37-39)Cga>Tga	p.R13*	GLYCTK_uc003ddq.2_Nonsense_Mutation_p.R13*|GLYCTK_uc003ddm.3_Intron|GLYCTK_uc003ddn.3_Non-coding_Transcript|GLYCTK_uc003ddp.1_Nonsense_Mutation_p.R13*|GLYCTK_uc003ddr.3_5'Flank	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	Homo sapiens glycerate kinase (GLYCTK), transcript variant 1, mRNA.	13					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		CCGCTTGGCCCGAGCCCCCTT	0.657000													28	4					0	0	1	0	0
KCNAB2	8514	broad.mit.edu	37	1	6149094	6149094	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:6149094delG	uc009vlv.2	+	8	941	c.398delG	c.(397-399)aggfs	p.R133fs	KCNAB2_uc001alv.2_Frame_Shift_Del_p.R133fs|KCNAB2_uc001alw.2_Frame_Shift_Del_p.R119fs|KCNAB2_uc001alx.2_Frame_Shift_Del_p.R133fs|KCNAB2_uc001aly.2_Frame_Shift_Del_p.R166fs|KCNAB2_uc009vlw.2_Frame_Shift_Del_p.R66fs|KCNAB2_uc001alu.3_Frame_Shift_Del_p.R133fs	NM_001199861	NP_001186790	Q13303	KCAB2_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 2 (KCNAB2), transcript variant 4, mRNA.	133						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCTGTCCAGGAAGCACATA	0.632													2	4	---	---	---	---					
SPEN	23013	broad.mit.edu	37	1	16202965	16202978	+	Frame_Shift_Del	DEL	ACCCGGGAGGTACG	ACCCGGGAGGTACG	-	rs146447271		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:16202965_16202978delACCCGGGAGGTACG	uc001axk.1	+	2	877_890	c.673_686delACCCGGGAGGTACG	c.(673-687)acccgggaggtacgafs	p.T225fs	SPEN_uc010obp.1_Frame_Shift_Del_p.T184fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	225	Arg-rich.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGATGATATTACCCGGGAGGTACGAGGCAGAAGG	0.528													46	105	---	---	---	---					
CACNA1D	776	broad.mit.edu	37	3	53529193	53529195	+	Translation_Start_Site	DEL	GAT	GAT	-			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr3:53529193_53529195delGAT	uc003dgv.4	+	0					CACNA1D_uc003dgu.4_Start_Codon_Del|CACNA1D_uc003dgy.4_Start_Codon_Del	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	aatgttcgtGgatgatgatgatg	0.581													10	117	---	---	---	---					
OR5L2	26338	broad.mit.edu	37	11	55595238	55595238	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr11:55595238delC	uc001nhy.1	+	0	544	c.544delC	c.(544-546)cccfs	p.P182fs		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTGTGATCTACCCCCTCTCCT	0.453										HNSCC(27;0.073)			120	187	---	---	---	---					
MAST1	22983	broad.mit.edu	37	19	12975741	12975743	+	In_Frame_Del	DEL	CCG	CCG	-	rs146244031		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr19:12975741_12975743delCCG	uc002mvm.3	+	12	1613_1615	c.1485_1487delCCG	c.(1483-1488)caccgc>cac	p.R496del		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	496	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GCATCGTGCACCGCGACCTCAAG	0.567													66	12	---	---	---	---					
ZNF230	7773	broad.mit.edu	37	19	44515243	44515243	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr19:44515243delT	uc002oyb.1	+	4	1303	c.1052delT	c.(1051-1053)cttfs	p.L351fs		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	Homo sapiens zinc finger protein 230 (ZNF230), mRNA.	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				TCCTCATATCTTTTGATCCAT	0.428													82	196	---	---	---	---					
CLASRP	11129	broad.mit.edu	37	19	45572472	45572472	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr19:45572472delG	uc002pak.3	+	17	1938	c.1840delG	c.(1840-1842)gagfs	p.E614fs	CLASRP_uc002pal.3_Non-coding_Transcript|CLASRP_uc010xxh.2_Frame_Shift_Del_p.E552fs|CLASRP_uc002pam.3_Frame_Shift_Del_p.E595fs	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	Homo sapiens CLK4-associating serine/arginine rich protein (CLASRP), mRNA.	614	Arg-rich.				RNA splicing|mRNA processing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GCGGGAAGACGAGCTTCGAGC	0.652													10	392	---	---	---	---					
FAM120C	54954	broad.mit.edu	37	X	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chrX:54209302_54209303insGGCGGC	uc004dsz.4	-	0	412_413	c.329_330insGCCGCC	c.(328-330)ccc>ccGCCGCCc	p.110_110P>PPP	FAM120C_uc011moh.2_In_Frame_Ins_p.110_110P>PPP|FAM120C_uc004dta.2_In_Frame_Ins_p.110_110P>PPP	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA.	110										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748													5	5	---	---	---	---					
