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
PRRC2A	7916	broad.mit.edu	37	6	31599848	31599848	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr6:31599848C>T	ENST00000376033.2	+	16	3632	c.3398C>T	c.(3397-3399)aCc>aTc	p.T1133I	PRRC2A_ENST00000376007.4_Missense_Mutation_p.T1133I	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1133	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GGAACACTCACCCAGGTCCCT	0.672000													8	104					0	0	0.006214	0	0
GRAMD4	23151	broad.mit.edu	37	22	47059056	47059056	+	Silent	SNP	C	C	T	rs145387351		TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr22:47059056C>T	ENST00000406902.1	+	6	799	c.586C>T	c.(586-588)Ctg>Ttg	p.L196L	GRAMD4_ENST00000361034.3_Silent_p.L196L			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	196					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		AGAGGAACCCCTGAGCGCCCG	0.657000													23	102					0	0	0.002299	0	0
SDHAP1	0	broad.mit.edu	37	3	195698264	195698264	+	RNA	SNP	T	T	C	rs12485654	by1000genomes	TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr3:195698264T>C	ENST00000427841.1	-	0	1608					NR_003264.2																						TTTGTCAACATTCGTGACAGA	0.413000													3	60					0	0	0.004482	0	0
SLC6A10P	0	broad.mit.edu	37	16	32890639	32890639	+	RNA	SNP	T	T	C	rs79284655		TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr16:32890639T>C	ENST00000330048.5	-	0	3159					NR_003083.2																						ACCAGCGGCTTGTAGTACACA	0.627000													3	39					0	0	0.004672	0	0
LRIG2	9860	broad.mit.edu	37	1	113616164	113616164	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr1:113616164C>T	ENST00000361127.4	+	1	334	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	46	LRRNT.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CTGCCCCGCGCCCTGCTCCTG	0.652000											OREG0013684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	253					0	0	0.001168	0	0
XRN1	54464	broad.mit.edu	37	3	142037638	142037638	+	Silent	SNP	T	T	C			TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr3:142037638T>C	ENST00000264951.4	-	38	4626	c.4509A>G	c.(4507-4509)caA>caG	p.Q1503Q	XRN1_ENST00000392981.2_Silent_p.Q1504Q	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1503					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TTACCAACTGTTGTAAAGCAA	0.363000													5	52					0	0	0.000602	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629160	1629160	+	Silent	SNP	C	C	T			TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr11:1629160C>T	ENST00000399685.1	-	1	533	c.456G>A	c.(454-456)aaG>aaA	p.K152K		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	152	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		AGCAGCTGGGCTTGCAGCAGC	0.637000													6	368					0	0	0.004482	0	0
OTX1	5013	broad.mit.edu	37	2	63283329	63283329	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr2:63283329G>A	ENST00000366671.3	+	5	1219	c.943G>A	c.(943-945)Gac>Aac	p.D315N	OTX1_ENST00000282549.2_Missense_Mutation_p.D315N	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	315						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CAACTCTGCCGACTGCTTGGA	0.607000													15	70					0	0	0.002450	0	0
FCGRT	2217	broad.mit.edu	37	19	50017183	50017183	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr19:50017183C>G	ENST00000221466.5	+	3	604	c.118C>G	c.(118-120)Cct>Gct	p.P40A	FCGRT_ENST00000426395.3_Missense_Mutation_p.P40A|FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000596975.1_Missense_Mutation_p.P40A|FCGRT_ENST00000599988.1_Intron	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	40	Alpha-1.				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		GGTGTCCTCGCCTGCCCCGGG	0.657000													49	212					0	0	0.003610	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				9	54					0	0	0.006214	0	0
RP1	6101	broad.mit.edu	37	8	55539380	55539380	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr8:55539380G>A	ENST00000220676.1	+	4	3086	c.2938G>A	c.(2938-2940)Ggt>Agt	p.G980S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	980					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAAAATTGCCGGTTTGACAGG	0.348000													5	173					0	0	0.001168	0	0
TSSC2	0	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr11:3427759C>T	ENST00000529482.1	+	0	876																											TGTCTGCACACGTCCTGCAGT	0.612000													4	65					0	0	0.000248	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								6	67					0	0	0.001168	0	0
DHRS4	10901	broad.mit.edu	37	14	24435536	24435536	+	Silent	SNP	G	G	C	rs75479712		TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr14:24435536G>C	ENST00000313250.5	+	6	779	c.576G>C	c.(574-576)ctG>ctC	p.L192L	DHRS4_ENST00000543741.2_Intron|DHRS4_ENST00000397075.3_Intron|DHRS4_ENST00000421831.1_Silent_p.L140L|DHRS4_ENST00000397073.2_Intron|DHRS4_ENST00000397074.3_Intron|DHRS4_ENST00000558581.1_Silent_p.L158L|DHRS4_ENST00000382761.3_Intron|DHRS4_ENST00000558263.1_Intron|DHRS4_ENST00000559632.1_Intron|DHRS4_ENST00000308178.8_Intron	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	192						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	TGCTGGGCCTGACCAAGACCC	0.493000													4	239					0	0	0.006214	0	0
CSMD2	114784	broad.mit.edu	37	1	34128590	34128590	+	Silent	SNP	C	C	T	rs115110975	byFrequency	TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr1:34128590C>T	ENST00000373381.4	-	26	4331	c.4155G>A	c.(4153-4155)ccG>ccA	p.P1385P	CSMD2_ENST00000373380.1_Silent_p.P258P|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1345	Sushi 8.					integral to membrane|plasma membrane	protein binding	p.A1346S(1)|p.P1345P(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGGCAGGGCCGGGCCACTCA	0.572000													7	102					0	0	0.001984	0	0
KBTBD6	89890	broad.mit.edu	37	13	41705897	41705897	+	Missense_Mutation	SNP	G	G	C	rs150633583	byFrequency	TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr13:41705897G>C	ENST00000379485.1	-	1	985	c.751C>G	c.(751-753)Ccc>Gcc	p.P251A	KBTBD6_ENST00000499385.2_Missense_Mutation_p.P185A	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	251							protein binding	p.P251A(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CGCTCTTTGGGAGCAGCCTCC	0.587000													3	125					0	0	0.004672	0	0
ADCY10	55811	broad.mit.edu	37	1	167805622	167805622	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr1:167805622C>A	ENST00000367848.1	-	23	3455	c.2958G>T	c.(2956-2958)ttG>ttT	p.L986F	ADCY10_ENST00000485964.1_Intron|ADCY10_ENST00000545172.1_Missense_Mutation_p.L925F|ADCY10_ENST00000367851.4_Missense_Mutation_p.L1078F			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1078					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CATTTTCTCCCAAAGCCAGAA	0.413000													5	84					0.00116845	0.00822239	0.001168	1	0
LINC00969	0	broad.mit.edu	37	3	195400822	195400822	+	RNA	SNP	G	G	A	rs56170658	by1000genomes	TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr3:195400822G>A	ENST00000445430.1	+	0	1418																											GTCTGGTCAGGCATGTGCCCT	0.572000													4	29					0	0	0.001984	0	0
SLC11A1	6556	broad.mit.edu	37	2	219252307	219252307	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr2:219252307delT	ENST00000233202.6	+	7	931	c.591delT	c.(589-591)gcfs	p.A197fs	SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	197					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGGAAGCTTTTTTTGGAC	0.448													7	608	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													3	6	---	---	---	---					
