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
CXCR7	57007	broad.mit.edu	37	2	237489567	237489567	+	Silent	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr2:237489567C>A	uc021vys.1	+	0	459	c.459C>A	c.(457-459)ccC>ccA	p.P153P	CXCR7_uc010fyq.3_Silent_p.P153P|CXCR7_uc002vwd.3_Silent_p.P153P	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	153					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		CCAACACCCCCAGCAGCAGGA	0.562000													5	190					0	0	1	0	0
PICK1	9463	broad.mit.edu	37	22	38455291	38455291	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr22:38455291A>G	uc003auq.3	+	2	482	c.92A>G	c.(91-93)aAc>aGc	p.N31S	PICK1_uc003aur.3_Missense_Mutation_p.N31S|PICK1_uc003aus.3_Missense_Mutation_p.N31S|PICK1_uc003aut.3_Missense_Mutation_p.N31S	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN	Homo sapiens protein interacting with PRKCA 1 (PICK1), transcript variant 1, mRNA.	31	PDZ.				DNA methylation involved in embryo development|DNA methylation involved in gamete generation|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	Golgi apparatus|cell junction|endocytic vesicle membrane|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GATGCTCAGAACCTGATCGGG	0.572000													4	7					0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100364597	100364597	+	Silent	SNP	G	G	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr14:100364597G>T	uc001ygr.3	+	8	981	c.912G>T	c.(910-912)acG>acT	p.T304T	EML1_uc010avt.1_Silent_p.T272T|EML1_uc010tww.2_Silent_p.T273T|EML1_uc001ygq.3_Silent_p.T304T|EML1_uc001ygs.3_Silent_p.T285T	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	285						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				ATCGGATCACGATAGCAACAG	0.368000													3	13					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121880538	121880538	+	Silent	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:121880538G>A	uc001uat.3	-	18	2810	c.2706C>T	c.(2704-2706)ccC>ccT	p.P902P	KDM2B_uc010szy.2_Silent_p.P342P|KDM2B_uc001uaq.3_Silent_p.P342P|KDM2B_uc001uar.3_Silent_p.P493P|KDM2B_uc001uas.3_Silent_p.P833P|KDM2B_uc021rfd.1_Silent_p.P833P|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Silent_p.P902P|KDM2B_uc001uao.3_Silent_p.P150P|KDM2B_uc010szx.2_Silent_p.P150P|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	902					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CCCTGGTCTTGGGGGGCGCCT	0.697000													4	22					0	0	1	0	0
SBNO2	22904	broad.mit.edu	37	19	1113561	1113561	+	Silent	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr19:1113561C>T	uc002lrk.4	-	18	2458	c.2220G>A	c.(2218-2220)caG>caA	p.Q740Q	SBNO2_uc002lrj.4_Silent_p.Q683Q|SBNO2_uc010dse.3_Silent_p.Q723Q	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.	740					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCGCCCAGCTGGTCGATGA	0.697000													4	59					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95720147	95720147	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr10:95720147C>T	uc009xuj.2	-	0	1526	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		TTTACTATTCCGGGCAGGGAT	0.502000													10	80					0	0	1	0	0
TRIM33	51592	broad.mit.edu	37	1	114942114	114942114	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:114942114G>A	uc001eew.3	-	17	3169	c.3085C>T	c.(3085-3087)Cgt>Tgt	p.R1029C	TRIM33_uc010owr.2_Missense_Mutation_p.R643C|TRIM33_uc010ows.2_Missense_Mutation_p.R661C|TRIM33_uc001eex.3_Missense_Mutation_p.R1029C	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	Homo sapiens tripartite motif containing 33 (TRIM33), transcript variant a, mRNA.	1029	Bromo.				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|R-SMAD binding|co-SMAD binding|ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGATCAAACGGACATCGGCC	0.343000			T	RET	papillary thyroid								24	135					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3789711	3789711	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr16:3789711C>A	uc002cvv.3	-	24	4352	c.4148G>T	c.(4147-4149)gGg>gTg	p.G1383V	CREBBP_uc002cvw.3_Missense_Mutation_p.G1345V	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1383	Cys/His-rich.				N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGACATTTCCCCAGAATCCAC	0.473000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						5	41					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14863047	14863047	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr3:14863047G>A	uc003bzc.3	+	0	2579	c.2469G>A	c.(2467-2469)atG>atA	p.M823I	FGD5_uc011avk.2_Missense_Mutation_p.M823I	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	823					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						ACGTGGACATGAGCAGCTTCA	0.532000													8	65					0	0	1	0	0
ACCSL	390110	broad.mit.edu	37	11	44080233	44080233	+	Silent	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr11:44080233C>T	uc001mxw.1	+	12	1664	c.1608C>T	c.(1606-1608)ctC>ctT	p.L536L	ACCSL_uc009ykr.2_Silent_p.L355L	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like (ACCSL), mRNA.	536							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.E535*(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CAGATGAGCTCCCCCGGCTAA	0.493000													22	54					0	0	1	0	0
MSX2P1	55545	broad.mit.edu	37	17	56235044	56235044	+	RNA	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr17:56235044C>A	uc002ivn.3	+	0		c.725C>A								Homo sapiens msh homeobox 2 pseudogene 1 (MSX2P1), non-coding RNA.																		CCCATCAGCTCGCCCCTGCAG	0.557000													4	78					0	0	1	0	0
SHH	6469	broad.mit.edu	37	7	155599019	155599019	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr7:155599019T>C	uc003wmk.1	-	1	684	c.533A>G	c.(532-534)aAg>aGg	p.K178R	SHH_uc003wmh.1_Non-coding_Transcript|SHH_uc003wmi.1_Missense_Mutation_p.K91R|SHH_uc003wmj.1_Missense_Mutation_p.K91R	NM_000193	NP_000184	Q15465	SHH_HUMAN	Homo sapiens sonic hedgehog (SHH), mRNA.	178			Missing (in HPE3).		CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of T cell differentiation in thymus|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GATATGTGCCTTGGACTCGTA	0.632000													17	101					0	0	1	0	0
DPEP1	1800	broad.mit.edu	37	16	89703634	89703634	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr16:89703634G>A	uc010cin.3	+	6	817	c.614G>A	c.(613-615)cGt>cAt	p.R205H	DPEP1_uc002fnr.4_Missense_Mutation_p.R205H|DPEP1_uc002fns.4_Missense_Mutation_p.R205H	NM_001128141	NP_004404	P16444	DPEP1_HUMAN	Homo sapiens dipeptidase 1 (renal) (DPEP1), transcript variant 2, mRNA.	205					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GAGCTGAACCGTCTGGGGGTC	0.662000													10	58					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105203693	105203693	+	Silent	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr10:105203693C>A	uc001kwy.1	+	33	5233	c.5146C>A	c.(5146-5148)Cgg>Agg	p.R1716R		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	1716					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ACTCTACAACCGGATGCTGAA	0.562000													4	163					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114448922	114448922	+	Silent	SNP	C	C	A	rs141568192	by1000genomes	TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr8:114448922C>A	uc003ynu.3	-	0	321	c.162G>T	c.(160-162)acG>acT	p.T54T	CSMD3_uc011lhx.2_Silent_p.T54T|CSMD3_uc010mcx.1_Silent_p.T54T|CSMD3_uc003ynx.4_Silent_p.T54T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	54						integral to membrane|plasma membrane		p.T54T(2)|p.T54M(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACAAGACACCGTCAATAAAA	0.488000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	261					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50464003	50464003	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr2:50464003C>T	uc021vhh.1	-	16	4391	c.3470G>A	c.(3469-3471)aGc>aAc	p.S1157N	NRXN1_uc010fbp.3_Missense_Mutation_p.S122N|NRXN1_uc002rxb.4_Missense_Mutation_p.S829N|NRXN1_uc021vhg.1_Missense_Mutation_p.S1197N|NRXN1_uc021vhi.1_Missense_Mutation_p.S1193N|NRXN1_uc021vhj.1_Missense_Mutation_p.S1153N|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	1157	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTGAACAGTGCTAAAACCTAT	0.448000													17	47					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73152085	73152085	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr9:73152085C>T	uc004aid.3	-	24	4152	c.3908G>A	c.(3907-3909)aGc>aAc	p.S1303N	TRPM3_uc004ahu.3_Missense_Mutation_p.S1145N|TRPM3_uc004ahv.3_Missense_Mutation_p.S1105N|TRPM3_uc004ahw.3_Missense_Mutation_p.S1175N|TRPM3_uc004ahx.3_Missense_Mutation_p.S1162N|TRPM3_uc004ahy.3_Missense_Mutation_p.S1165N|TRPM3_uc004ahz.3_Missense_Mutation_p.S1152N|TRPM3_uc004aia.3_Missense_Mutation_p.S1150N|TRPM3_uc004aib.3_Missense_Mutation_p.S1140N|TRPM3_uc004aic.3_Missense_Mutation_p.S1303N	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1328						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CCCTTCCTGGCTGTTGAAGCT	0.572000													14	167					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88047292	88047292	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr4:88047292T>C	uc011ccz.2	+	13	2890	c.2615T>C	c.(2614-2616)cTc>cCc	p.L872P	AFF1_uc003hqj.4_Missense_Mutation_p.L865P|AFF1_uc003hqk.4_Missense_Mutation_p.L865P|AFF1_uc011cda.2_Missense_Mutation_p.L503P	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	865	Poly-Ser.					nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AAGGAAATGCTCCCCCCGCCA	0.577000													5	72					0	0	1	0	0
SESN3	143686	broad.mit.edu	37	11	94910979	94910979	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr11:94910979T>C	uc001pfk.1	-	7	1373	c.1151A>G	c.(1150-1152)aAt>aGt	p.N384S	SESN3_uc010rug.1_Missense_Mutation_p.N245S	NM_144665	NP_653266	P58005	SESN3_HUMAN	Homo sapiens sestrin 3 (SESN3), mRNA.	384					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		ATATGTGAGATTGTAGACCAT	0.403000													4	64					0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66500871	66500871	+	RNA	SNP	T	T	C	rs11262348		TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr9:66500871T>C	uc004aed.1	+	2		c.964T>C								Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA.																		TACACGGAACTGCTGTTGGTC	0.597000													4	38					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34102147	34102147	+	Silent	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:34102147C>T	uc001bxm.1	-	29	4959	c.4782G>A	c.(4780-4782)ccG>ccA	p.P1594P	CSMD2_uc001bxn.1_Silent_p.P1554P|CSMD2_uc001bxo.1_Silent_p.P467P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1554	Sushi 9.					integral to membrane|plasma membrane	protein binding	p.P1554P(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)				ATGACTCCCGCGGGTTTTCTG	0.562000													18	33					0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60565296	60565296	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr13:60565296T>C	uc001vht.3	-	11	1576	c.1357A>G	c.(1357-1359)Ata>Gta	p.I453V	DIAPH3_uc001vhu.3_Missense_Mutation_p.I190V|DIAPH3_uc001vhv.3_Missense_Mutation_p.I31V	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	453	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TCTTACCTTATAAAATAATCA	0.294000													10	28					0	0	1	0	0
C3orf38	285237	broad.mit.edu	37	3	88205229	88205229	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr3:88205229T>C	uc003dqw.3	+	2	744	c.434T>C	c.(433-435)tTc>tCc	p.F145S		NM_173824	NP_776185	Q5JPI3	CC038_HUMAN	Homo sapiens chromosome 3 open reading frame 38 (C3orf38), mRNA.	145					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GGAGAAGAATTCTGTCATTGG	0.368000													17	24					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62038263	62038263	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr20:62038263C>T	uc002yey.1	-	16	2530	c.2353G>A	c.(2353-2355)Gac>Aac	p.D785N	KCNQ2_uc002yez.1_Missense_Mutation_p.D754N|KCNQ2_uc002yfa.1_Missense_Mutation_p.D767N|KCNQ2_uc002yfb.1_Missense_Mutation_p.D757N	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	785					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	ATGGACGTGTCGCTGTCCCGC	0.672000													10	23					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22159980	22159980	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:22159980A>G	uc009vqd.3	-	78	11001	c.10961T>C	c.(10960-10962)tTt>tCt	p.F3654S	HSPG2_uc001bfi.3_5'Flank|HSPG2_uc001bfj.3_Missense_Mutation_p.F3653S	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3653	Ig-like C2-type 22.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CAGGTGGGCAAAGGCTTTGAC	0.617000													6	72					0	0	1	0	0
DRG1	4733	broad.mit.edu	37	22	31829930	31829930	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr22:31829930G>T	uc003aku.3	+	8	1208	c.1077G>T	c.(1075-1077)gaG>gaT	p.E359D	AK074476_uc003akv.1_5'Flank	NM_004147	NP_004138	Q9Y295	DRG1_HUMAN	Homo sapiens developmentally regulated GTP binding protein 1 (DRG1), mRNA.	359					multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						TGGAGGATGAGGATGTCATTC	0.488000													4	80					0	0	1	0	0
A4GALT	53947	broad.mit.edu	37	22	43088924	43088924	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr22:43088924G>A	uc003bdb.3	-	2	1295	c.1034C>T	c.(1033-1035)aCg>aTg	p.T345M	A4GALT_uc021wqo.1_Missense_Mutation_p.T345M|A4GALT_uc021wqp.1_Missense_Mutation_p.T345M|A4GALT_uc010gzd.3_Missense_Mutation_p.T345M|A4GALT_uc021wqq.1_Missense_Mutation_p.T345M	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA.	345					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GGCCTCGTGCGTCGTGGGGCA	0.652000													17	69					0	0	1	0	0
TCP11	6954	broad.mit.edu	37	6	35088704	35088704	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr6:35088704G>A	uc003okd.2	-	5	917	c.736C>T	c.(736-738)Ctc>Ttc	p.L246F	TCP11_uc003ojz.1_Missense_Mutation_p.L171F|TCP11_uc003oka.2_Missense_Mutation_p.L171F|TCP11_uc003okb.2_Missense_Mutation_p.L170F|TCP11_uc011dsu.1_Missense_Mutation_p.L228F|TCP11_uc003okc.2_Missense_Mutation_p.L170F|TCP11_uc011dsv.1_Missense_Mutation_p.L195F|TCP11_uc011dsw.1_Missense_Mutation_p.L200F	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	Homo sapiens t-complex 11 homolog (mouse) (TCP11), transcript variant 1, mRNA.	233					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						TTATTGAGGAGTTCCTGGAAT	0.448000													12	582					0	0	1	0	0
PARP9	83666	broad.mit.edu	37	3	122259686	122259686	+	Silent	SNP	G	G	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr3:122259686G>C	uc010hri.3	-	7	1648	c.1503C>G	c.(1501-1503)acC>acG	p.T501T	PARP9_uc003eff.4_Silent_p.T466T|PARP9_uc011bjs.2_Silent_p.T466T|PARP9_uc003efg.3_Silent_p.T46T|PARP9_uc003efi.3_Silent_p.T466T|PARP9_uc003efh.3_Silent_p.T501T|PARP9_uc003efj.2_Silent_p.T466T	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.	501					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TCTCCTCTCTGGTTGACTGGG	0.448000													17	161					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85972941	85972941	+	Missense_Mutation	SNP	C	C	T	rs34744664		TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr10:85972941C>T	uc001kcv.3	+	15	1982	c.1877C>T	c.(1876-1878)aCg>aTg	p.T626M	CDHR1_uc001kcw.3_Missense_Mutation_p.T626M|CDHR1_uc009xst.3_Missense_Mutation_p.T330M|CDHR1_uc001kcx.3_5'UTR	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	626	Cadherin 6.				homophilic cell adhesion		calcium ion binding|receptor activity	p.T626T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AATTCCCACACGGGGGAGATC	0.572000													10	99					0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	888969	888969	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr10:888969C>A	uc001ifs.1	-	5	590	c.549G>T	c.(547-549)atG>atT	p.M183I		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	183	HTH La-type RNA-binding.						RNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GGTCACTATCCATCTGTGATA	0.403000													9	30					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48707834	48707834	+	Silent	SNP	A	A	G	rs143055643	byFrequency	TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr15:48707834A>G	uc001zwx.2	-	63	8345	c.7950T>C	c.(7948-7950)aaT>aaC	p.N2650N	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2650	EGF-like 47; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGCCACATTCATTGATGTCTT	0.582000													47	110					0	0	1	0	0
LRRC56	115399	broad.mit.edu	37	11	551945	551945	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr11:551945G>A	uc010qvz.2	+	10	1521	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q		NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN	Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA.	339										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGGGCCTGCGGGAGCGTAGG	0.687000													5	35					0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2549250	2549250	+	Splice_Site	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr11:2549250T>C	uc001lwn.3	+	2	585	c.477_splice	c.e2+2	p.M159_splice	KCNQ1_uc009ydp.1_Splice_Site_p.W12_splice|KCNQ1_uc001lwo.3_Splice_Site_p.M32_splice	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	159					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TTCTGGATGGTACGTAGCATC	0.617000													30	77					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	20991143	20991143	+	Silent	SNP	G	G	A	rs115825348	by1000genomes	TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:20991143G>A	uc001bdr.4	-	14	3142	c.3024C>T	c.(3022-3024)ctC>ctT	p.L1008L	KIF17_uc001bdp.4_Silent_p.L285L|KIF17_uc009vpx.3_Silent_p.L378L|KIF17_uc001bds.4_Silent_p.L1007L	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	1008					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AAGGGATGTCGAGGGACTCGA	0.602000													11	135					0	0	1	0	0
RBM22	55696	broad.mit.edu	37	5	150073641	150073641	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr5:150073641C>T	uc003lst.3	-	7	1030	c.908G>A	c.(907-909)gGa>gAa	p.G303E		NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	Homo sapiens RNA binding motif protein 22 (RBM22), mRNA.	303	RRM.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	RNA binding|calcium-dependent protein binding|nucleotide binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTCACCTTCCCCATTTCAC	0.388000													11	71					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185987441	185987441	+	Silent	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:185987441T>C	uc001grq.1	+	33	5656	c.5427T>C	c.(5425-5427)aaT>aaC	p.N1809N		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1809	Ig-like C2-type 15.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGCAGCAAATACTGCTGGAG	0.393000													32	92					0	0	1	0	0
WDR4	10785	broad.mit.edu	37	21	44283564	44283564	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr21:44283564T>C	uc002zci.3	-	3	512	c.439A>G	c.(439-441)Atg>Gtg	p.M147V	WDR4_uc002zck.1_Missense_Mutation_p.M147V|WDR4_uc002zcl.1_Missense_Mutation_p.M1V|WDR4_uc010gpg.1_Missense_Mutation_p.M147V|WDR4_uc011aew.1_Missense_Mutation_p.M1V|WDR4_uc010gph.1_Missense_Mutation_p.M1V	NM_033661	NP_387510	P57081	WDR4_HUMAN	Homo sapiens WD repeat domain 4 (WDR4), transcript variant 2, mRNA.	147					tRNA modification	cytoplasm|nucleoplasm	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		TCTAACAGCATAGACAGGTGC	0.612000													22	59					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35945534	35945534	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr17:35945534G>A	uc002hoa.3	-	4	459	c.376C>T	c.(376-378)Cga>Tga	p.R126*	SYNRG_uc010wde.2_Nonsense_Mutation_p.R126*|SYNRG_uc010wdf.2_Nonsense_Mutation_p.R126*|SYNRG_uc002hoc.3_Nonsense_Mutation_p.R125*|SYNRG_uc002hoe.3_Nonsense_Mutation_p.R126*|SYNRG_uc002hod.3_Nonsense_Mutation_p.R126*|SYNRG_uc010wdg.2_Nonsense_Mutation_p.R126*|SYNRG_uc002hob.3_Nonsense_Mutation_p.R126*|SYNRG_uc002hog.1_Nonsense_Mutation_p.R159*|SYNRG_uc010wdh.1_Nonsense_Mutation_p.R126*	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.	126					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGTTCAAATCGTTTCCTGAAG	0.373000													14	103					0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36270248	36270248	+	Splice_Site	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr6:36270248T>C	uc010jwf.2	+	6	1384	c.1384_splice	c.e6+2	p.A462_splice	PNPLA1_uc010jwe.1_Splice_Site_p.A376_splice|PNPLA1_uc003olw.1_Splice_Site_p.A367_splice	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	462					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						AGCCCCAAGGTATGGACCCTT	0.567000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	137					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6101119	6101119	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:6101119C>T	uc001qnn.1	-	37	6914	c.6664G>A	c.(6664-6666)Ggc>Agc	p.G2222S	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2222	E2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTCACGTTGCCATCACAGTGC	0.567000													12	44					0	0	1	0	0
TGFBR1	7046	broad.mit.edu	37	9	101904860	101904860	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr9:101904860A>G	uc004azc.3	+	4	924	c.848A>G	c.(847-849)cAt>cGt	p.H283R	TGFBR1_uc004azd.3_Missense_Mutation_p.H206R|TGFBR1_uc004aze.3_Missense_Mutation_p.H287R|TGFBR1_uc011lvc.2_Missense_Mutation_p.H214R	NM_004612	NP_004603	P36897	TGFR1_HUMAN	Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 1, mRNA.	283	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of SMAD protein import into nucleus|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TCAGATTATCATGAGCATGGA	0.413000													16	122					0	0	1	0	0
MZT1	440145	broad.mit.edu	37	13	73293092	73293092	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr13:73293092T>G	uc001viu.2	-	1	421	c.223A>C	c.(223-225)Aag>Cag	p.K75Q		NM_001071775	NP_001065243	Q08AG7	MZT1_HUMAN	Homo sapiens mitotic spindle organizing protein 1 (MZT1), mRNA.	75					gamma-tubulin complex localization	centrosome|gamma-tubulin ring complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TCTCCAACCTTCAGTGCTTCA	0.358000													13	170					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39727024	39727024	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:39727024T>C	uc001rly.3	-	17	2897	c.2477A>G	c.(2476-2478)aAa>aGa	p.K826R	KIF21A_uc001rlv.3_5'Flank|KIF21A_uc001rlw.3_Missense_Mutation_p.K143R|KIF21A_uc001rlx.3_Missense_Mutation_p.K813R|KIF21A_uc001rlz.3_Intron|KIF21A_uc010skl.2_Missense_Mutation_p.K813R	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	826				K -> Q (in Ref. 2; AAP97680).	microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTCTTCAGTTTTGCGACGTAG	0.343000													74	177					0	0	1	0	0
RPA1	6117	broad.mit.edu	37	17	1787221	1787221	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr17:1787221C>G	uc002fto.2	+	12	1472	c.1357C>G	c.(1357-1359)Ctg>Gtg	p.L453V		NM_002945	NP_002936	P27694	RFA1_HUMAN	Homo sapiens replication protein A1, 70kDa (RPA1), mRNA.	453					DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body|actin cytoskeleton|cytoplasm	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						ATCCGAGAACCTGGGCCAAGG	0.493000								Nucleotide excision repair (NER)					31	66					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40677930	40677930	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:40677930A>G	uc001rmg.4	+	18	2616	c.2495A>G	c.(2494-2496)cAa>cGa	p.Q832R	LRRK2_uc001rmh.1_Missense_Mutation_p.Q454R	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	832					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTAAGGAAACAAACAAGTAAG	0.313000													12	52					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160886666	160886666	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr5:160886666C>T	uc003lys.1	-	4	640	c.422G>A	c.(421-423)cGc>cAc	p.R141H	GABRB2_uc011deh.1_Intron|GABRB2_uc003lyr.1_Missense_Mutation_p.R141H|GABRB2_uc003lyt.1_Missense_Mutation_p.R141H|GABRB2_uc021yhg.1_Missense_Mutation_p.R78H|GABRB2_uc011dei.1_Missense_Mutation_p.R141H	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	141					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity	p.R141C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGGATGCAGGCGAATCATGCG	0.443000													14	59					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76421442	76421442	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr17:76421442C>T	uc010dhp.2	-	79	13251	c.13126G>A	c.(13126-13128)Gga>Aga	p.G4376R	DNAH17_uc002jvq.3_Missense_Mutation_p.G661R|DNAH17_uc002jvs.3_Non-coding_Transcript	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)			ATGAAGAGTCCGTACACGTAG	0.532000													11	134					0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129241302	129241302	+	Silent	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr5:129241302C>A	uc003kvd.3	+	0	780	c.780C>A	c.(778-780)gcC>gcA	p.A260A		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA.	260						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TCATGCGCGCCGACGACGATG	0.567000													4	218					0	0	1	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163401	163401	+	RNA	SNP	G	G	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr8:163401G>C	uc010lra.3	-	3		c.732C>G			RPL23AP53_uc003woq.4_Non-coding_Transcript|RPL23AP53_uc010lrb.3_Non-coding_Transcript					Homo sapiens ribosomal protein L23a pseudogene 53 (RPL23AP53), non-coding RNA.																		TCTGGTGCTTGTTGGCTTTAA	0.463000													4	28					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76660411	76660411	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr6:76660411C>A	uc003pik.1	-	12	1822	c.1692G>T	c.(1690-1692)atG>atT	p.M564I		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	564					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GGGCAATGGTCATAGAACTAG	0.493000													5	92					0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70072612	70072612	+	Silent	SNP	A	A	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:70072612A>G	uc001svg.3	-	4	770	c.543T>C	c.(541-543)taT>taC	p.Y181Y	BEST3_uc001svd.2_Silent_p.Y181Y|BEST3_uc001svf.3_Silent_p.Y19Y|BEST3_uc010stm.2_Silent_p.Y75Y	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	181						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			ATGGAACCCAATATTTCAGAT	0.358000													6	50					0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106641580	106641580	+	RNA	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr14:106641580C>T	uc021ser.1	-	1493		c.29805G>A								Parts of antibodies, mostly variable regions.																		CAGTAATACACGGCCGTGTCG	0.542000													91	69					0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51507272	51507272	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr15:51507272A>G	uc001zyz.4	-	8	1267	c.1016T>C	c.(1015-1017)gTt>gCt	p.V339A	CYP19A1_uc001zza.4_Missense_Mutation_p.V339A|CYP19A1_uc001zzb.2_Missense_Mutation_p.V339A	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	339					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	CTTACCAATAACAGTCTGGAT	0.323000													10	23					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9014619	9014619	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr19:9014619G>C	uc002mkp.3	-	30	38560	c.38356C>G	c.(38356-38358)Cag>Gag	p.Q12786E	MUC16_uc021uog.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12788	SEA 5.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTATAGCTGCTCCCTGTCC	0.567000													49	129					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14536380	14536380	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr3:14536380C>T	uc021wtn.1	-	24	3229	c.3229G>A	c.(3229-3231)Ggc>Agc	p.G1077S	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	981					synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GGCTGGAGGCCTCCACGGTGG	0.612000													12	43					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228396	3228396	+	Silent	SNP	G	G	A	rs151002571	byFrequency	TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chrX:3228396G>A	uc004crg.4	-	6	8005	c.7848C>T	c.(7846-7848)tgC>tgT	p.C2616C		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2616	Ig-like C2-type 10.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGCGGGCCACGCAGCGGTAGG	0.602000													12	13					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214819712	214819712	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:214819712G>T	uc001hkm.3	+	12	6973	c.6799G>T	c.(6799-6801)Gag>Tag	p.E2267*		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	2363	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TCAGTTAAAGGAGCTAAATGA	0.423000													5	118					0	0	1	0	0
NBPF7	343505	broad.mit.edu	37	1	120387148	120387148	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:120387148C>G	uc010oxk.2	-	0	632	c.11G>C	c.(10-12)cGt>cCt	p.R4P		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA.	4						cytoplasm		p.R4P(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2)	24	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		GGAGAAGAAACGCAAACACAT	0.458000											OREG0013730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	155					0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47856825	47856825	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr19:47856825G>A	uc010xyn.2	+	1	887	c.538G>A	c.(538-540)Gtg>Atg	p.V180M	DHX34_uc010elc.1_Missense_Mutation_p.V180M	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	180	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GGAGCACCAGGTGGTGGTAGT	0.662000													13	47					0	0	1	0	0
RPA2	6118	broad.mit.edu	37	1	28240635	28240635	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:28240635C>T	uc001bpe.1	-	1	338	c.56G>A	c.(55-57)gGc>gAc	p.G19D	RPA2_uc010ofp.1_5'UTR	NM_002946	NP_002937	P15927	RFA2_HUMAN	Homo sapiens replication protein A2, 32kDa (RPA2), mRNA.	19	Gly/Ser-rich.				DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCGTGTAGCCGCCGGCTCC	0.537000								Direct reversal of damage;Nucleotide excision repair (NER)					5	63					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13370362	13370362	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr3:13370362C>A	uc003bxv.1	-	30	4278	c.4195G>T	c.(4195-4197)Gga>Tga	p.G1399*		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1399					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ACGGTCATTCCCAAAGGCACG	0.537000													5	83					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69886115	69886115	+	Splice_Site	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr4:69886115C>A	uc011cao.1	-	1	1	c.-125_splice	c.e1-1		UGT2B10_uc011can.1_Splice_Site			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.						lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AATTCTTTTCCAGTCACTGTT	0.348000													4	76					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr20:29625885A>T	uc010ztl.1	+	1	71	c.39A>T	c.(37-39)aaA>aaT	p.K13N	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.K43N(2)|p.V12V(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353000													5	95					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885128	88885128	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr8:88885128C>T	uc003ydz.3	-	0	1169	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	358										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTCTCCGAGGCGGGGTATGGG	0.622000													35	67					0	0	1	0	0
RFC1	5981	broad.mit.edu	37	4	39310272	39310272	+	Silent	SNP	G	G	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr4:39310272G>T	uc003gty.2	-	12	2009	c.1869C>A	c.(1867-1869)tcC>tcA	p.S623S	RFC1_uc003gtx.2_Silent_p.S623S	NM_001204747	NP_001191676	P35251	RFC1_HUMAN	Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA.	623					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTTTATCTTCGGAAGAACTCT	0.428000													4	149					0	0	1	0	0
ZNF66	0	broad.mit.edu	37	19	20959240	20959240	+	RNA	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr19:20959240C>A	uc002npe.3	+	0		c.131C>A								Homo sapiens zinc finger protein 66, mRNA (cDNA clone MGC:87430 IMAGE:5270688), complete cds.																		CCAGGACCCCCTGGAAGCCTA	0.587000													5	118					0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43829625	43829625	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr21:43829625C>T	uc002zbe.3	+	2	346	c.262C>T	c.(262-264)Ctt>Ttt	p.L88F	UBASH3A_uc002zbf.3_Missense_Mutation_p.L88F|UBASH3A_uc010gpe.3_Missense_Mutation_p.L88F|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	88						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GCTGGAAAAACTTCAAGAGTT	0.537000													4	112					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281161	152281161	+	Silent	SNP	G	G	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:152281161G>T	uc001ezu.1	-	2	6237	c.6201C>A	c.(6199-6201)ccC>ccA	p.P2067P		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2067	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.P2067H(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGCTGATGGGGCCCAGCTT	0.562000									Ichthyosis				8	868					0	0	1	0	0
GOLGA6L6	727832	broad.mit.edu	37	15	20743796	20743796	+	Silent	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr15:20743796C>T	uc001ytk.2	-	3	499	c.408G>A	c.(406-408)acG>acA	p.T136T	DQ595648_uc021sey.1_5'Flank	NM_001145004	NP_001138476	A8MZA4	GG6L6_HUMAN	Homo sapiens golgin A6 family-like 6 (GOLGA6L6), mRNA.	136								p.T136T(2)		NS(3)|endometrium(4)|kidney(1)|skin(3)	11						TTTTCTGACACGTAAGGATTC	0.493000													5	51					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84539609	84539609	+	Silent	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr15:84539609C>A	uc002bjz.4	+	8	1082	c.858C>A	c.(856-858)ccC>ccA	p.P286P	ADAMTSL3_uc010bmt.1_Silent_p.P286P	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	286						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTAACAGCCCCGGCGTCTTTC	0.378000													4	76					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97822262	97822262	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr7:97822262G>A	uc003upd.2	+	10	2778	c.2485G>A	c.(2485-2487)Gta>Ata	p.V829I		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	829					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GCCCCGTCGGGTACCCCCAGA	0.557000													42	82					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477192	110477192	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr8:110477192G>A	uc003yne.3	+	48	8235	c.8131G>A	c.(8131-8133)Ggc>Agc	p.G2711S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2711					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAAAATAGTCGGCCATCTTGA	0.463000										HNSCC(38;0.096)			23	169					0	0	1	0	0
CASKIN2	57513	broad.mit.edu	37	17	73497899	73497899	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr17:73497899G>T	uc002joc.3	-	17	3806	c.3256C>A	c.(3256-3258)Ccg>Acg	p.P1086T	CASKIN2_uc010wsc.2_Missense_Mutation_p.P1004T	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	1086	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGGCGGCCGGGGGTTCTGTC	0.672000													5	240					0	0	1	0	0
KLF17	128209	broad.mit.edu	37	1	44595177	44595177	+	Silent	SNP	G	G	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:44595177G>T	uc001clp.3	+	1	292	c.234G>T	c.(232-234)ccG>ccT	p.P78P	KLF17_uc009vxf.1_Silent_p.P41P	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	78					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TTGAGGCGCCGGGGCAGAATG	0.582000													4	98					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233706	21233706	+	Nonsense_Mutation	SNP	G	G	A	rs147863759		TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr2:21233706G>A	uc002red.3	-	25	6162	c.6034C>T	c.(6034-6036)Cga>Tga	p.R2012*		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2012					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCCAGAGTTCGTCCAGTAAGC	0.428000													39	107					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145003714	145003714	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr8:145003714C>A	uc003zaf.1	-	23	3530	c.3360G>T	c.(3358-3360)caG>caT	p.Q1120H	PLEC_uc003zab.1_Missense_Mutation_p.Q983H|PLEC_uc003zac.1_Missense_Mutation_p.Q987H|PLEC_uc003zad.2_Missense_Mutation_p.Q983H|PLEC_uc003zae.1_Missense_Mutation_p.Q951H|PLEC_uc003zag.1_Missense_Mutation_p.Q961H|PLEC_uc003zah.2_Missense_Mutation_p.Q969H|PLEC_uc003zaj.2_Missense_Mutation_p.Q1010H	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	1120	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGATGCAGCGCTGGCAGCGAG	0.682000													9	55					0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24952626	24952626	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr2:24952626C>A	uc002rfk.3	+	14	3402	c.3143C>A	c.(3142-3144)cCg>cAg	p.P1048Q	NCOA1_uc010eye.3_Missense_Mutation_p.P1048Q|NCOA1_uc002rfi.3_Missense_Mutation_p.P897Q|NCOA1_uc002rfj.3_Missense_Mutation_p.P1048Q|NCOA1_uc002rfl.3_Missense_Mutation_p.P1048Q	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	1048								p.P1048P(1)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACAGACCTCCGGCTGCACCT	0.488000			T	PAX3	alveolar rhadomyosarcoma								4	150					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716716	13716716	+	Silent	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:13716716G>A	uc001rbt.2	-	12	3635	c.3456C>T	c.(3454-3456)acC>acT	p.T1152T		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1152					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|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGTAGATGTCGGTCAGGTCTA	0.577000													24	40					0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34553159	34553159	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr15:34553159C>T	uc001zhw.3	-	2	543	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	SLC12A6_uc001zhv.3_Missense_Mutation_p.E76K|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Missense_Mutation_p.E112K|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Missense_Mutation_p.E68K|SLC12A6_uc001zib.3_Missense_Mutation_p.E118K|SLC12A6_uc001zic.3_Missense_Mutation_p.E127K|SLC12A6_uc010bau.3_Missense_Mutation_p.E127K|SLC12A6_uc001zid.3_Missense_Mutation_p.E68K|SLC12A6_uc001zhu.3_5'UTR	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	127					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	p.E118K(1)|p.E76K(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TCAAAATATTCATCTCCTTCT	0.333000													8	64					0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215368303	215368303	+	Silent	SNP	C	C	T	rs149941939	by1000genomes	TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:215368303C>T	uc001hkq.3	+	5	1000	c.831C>T	c.(829-831)tcC>tcT	p.S277S	KCNK2_uc001hko.3_Silent_p.S273S|KCNK2_uc009xdm.3_Non-coding_Transcript|KCNK2_uc001hkp.3_Non-coding_Transcript|KCNK2_uc010pua.1_Non-coding_Transcript|KCNK2_uc001hkr.4_Silent_p.S262S	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	Homo sapiens potassium channel, subfamily K, member 2 (KCNK2), transcript variant 3, mRNA.	277							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CAGGTGGATCCGATATTGAAT	0.373000													74	154					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119966483	119966483	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:119966483G>T	uc001txe.3	+	11	1758	c.1293G>T	c.(1291-1293)aaG>aaT	p.K431N	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	431										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		ATTTTCAAAAGGACATAGCAA	0.398000													5	153					0	0	1	0	0
FAM209B	388799	broad.mit.edu	37	20	55099979	55099979	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr20:55099979G>A	uc002xxx.3	+	0	195	c.115G>A	c.(115-117)Gga>Aga	p.G39R	GCNT7_uc010zzg.1_Intron|FAM209B_uc010zzh.2_Missense_Mutation_p.G39R	NM_001012971	NP_001012989	Q5JX69	CT107_HUMAN	Homo sapiens family with sequence similarity 209, member A (FAM209A), mRNA.	39						integral to membrane											GGTGCAATACGGAGAGCACTT	0.517000													8	112					0	0	1	0	0
INPP5E	56623	broad.mit.edu	37	9	139333278	139333278	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr9:139333278G>T	uc004cho.3	-	0	979	c.594C>A	c.(592-594)agC>agA	p.S198R	INPP5E_uc010nbm.3_Missense_Mutation_p.S198R	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 72 kDa (INPP5E), mRNA.	198	13 X 4 AA repeats of P-X-X-P.					Golgi cisterna membrane|cilium axoneme|cytoskeleton	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	p.L197V(1)		NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		CGATGTCCAGGCTCAGGGCAG	0.711000													3	27					0	0	1	0	0
TMEM169	92691	broad.mit.edu	37	2	216960852	216960852	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr2:216960852C>A	uc010zjr.2	+	2	492	c.166C>A	c.(166-168)Cgc>Agc	p.R56S	TMEM169_uc010zjs.2_Missense_Mutation_p.R56S|TMEM169_uc002vfw.3_Missense_Mutation_p.R56S|TMEM169_uc002vfv.4_Missense_Mutation_p.R56S	NM_001142310	NP_612399	Q96HH4	TM169_HUMAN	Homo sapiens transmembrane protein 169 (TMEM169), transcript variant 1, mRNA.	56						integral to membrane		p.R56H(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATCATCTACCGCTCAGACAA	0.522000													4	61					0	0	1	0	0
MCMBP	79892	broad.mit.edu	37	10	121616907	121616907	+	Silent	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr10:121616907C>T	uc001ler.2	-	4	670	c.372G>A	c.(370-372)ttG>ttA	p.L124L	MCMBP_uc001les.1_5'UTR|MCMBP_uc021pzr.1_Non-coding_Transcript	NM_024834	NP_079110	Q9BTE3	MCMBP_HUMAN	Homo sapiens minichromosome maintenance complex binding protein (MCMBP), transcript variant 1, mRNA.	124					DNA-dependent DNA replication|S phase of mitotic cell cycle|cell division|mitosis|sister chromatid cohesion	nucleus	chromatin binding			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TCTGTCTTTCCAAAGTGGTAT	0.328000													6	56					0	0	1	0	0
AMFR	267	broad.mit.edu	37	16	56436913	56436913	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr16:56436913C>A	uc002eiy.3	-	6	1163	c.958G>T	c.(958-960)Gga>Tga	p.G320*	AMFR_uc002eix.3_Missense_Mutation_p.L17F	NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN	Homo sapiens autocrine motility factor receptor (AMFR), mRNA.	320					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TCCATGTTTCCAACCACACGT	0.438000													4	122					0	0	1	0	0
HECTD2	143279	broad.mit.edu	37	10	93253266	93253266	+	Splice_Site	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr10:93253266G>A	uc010qnm.1	+	15	1633	c.1533_splice	c.e15+1	p.I511_splice	LOC100188947_uc010qnl.2_Intron|HECTD2_uc001khl.2_Splice_Site_p.I507_splice|HECTD2_uc001khm.2_Splice_Site|HECTD2_uc009xty.1_Splice_Site_p.I96_splice|HECTD2_uc001khn.1_Splice_Site_p.I157_splice	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	Homo sapiens HECT domain containing 2 (HECTD2), transcript variant 1, mRNA.	507	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						GGTTGGAATTGTATCCTTTAA	0.308000													15	30					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231155227	231155227	+	Silent	SNP	A	A	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr2:231155227A>G	uc002vql.3	+	18	1888	c.1773A>G	c.(1771-1773)ccA>ccG	p.P591P	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Silent_p.P477P|SP140_uc002vqm.3_Silent_p.P531P|SP140_uc010fxl.3_Silent_p.P564P	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	591	SAND.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTTTGCTTCCAGTGACCTGTG	0.418000													4	105					0	0	1	0	0
NAB2	4665	broad.mit.edu	37	12	57486300	57486300	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:57486300C>A	uc001smz.3	+	2	1405	c.1027C>A	c.(1027-1029)Ctc>Atc	p.L343I		NM_005967	NP_005958	Q15742	NAB2_HUMAN	Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA.	343	NCD2.				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GAGAGTGGAGCTCTTCTCTTT	0.582000													4	60					0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46751117	46751117	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:46751117delG	uc001cpn.3	-	3	1456	c.1412delC	c.(1411-1413)ccafs	p.P471fs	LRRC41_uc010omb.2_Frame_Shift_Del_p.P471fs|LRRC41_uc001cpo.1_Frame_Shift_Del_p.P471fs	NM_006369	NP_006360	Q15345	LRC41_HUMAN	Homo sapiens leucine rich repeat containing 41 (LRRC41), mRNA.	471										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGTGGAGAGTGGAACTGTGAA	0.567													13	77	---	---	---	---					
CDKL2	8999	broad.mit.edu	37	4	76539579	76539580	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr4:76539579_76539580insT	uc011cbp.2	-	2	747_748	c.222_223insA	c.(220-225)aaacgafs	p.K74fs	CDKL2_uc003hiq.3_Frame_Shift_Ins_p.K74fs|CDKL2_uc010iix.1_Intron	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Homo sapiens cyclin-dependent kinase-like 2 (CDC2-related kinase) (CDKL2), mRNA.	74	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGGTACCATCGTTTTTTTTTCT	0.322													8	86	---	---	---	---					
SF1	7536	broad.mit.edu	37	11	64536550	64536551	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr11:64536550_64536551delTG	uc001obb.2	-	7	1282_1283	c.830_831delCA	c.(829-831)acafs	p.T277fs	SF1_uc010rnm.2_5'UTR|SF1_uc010rnn.2_Frame_Shift_Del_p.T251fs|SF1_uc001oaz.2_Frame_Shift_Del_p.T402fs|SF1_uc001oba.2_Frame_Shift_Del_p.T277fs|SF1_uc001obd.2_Frame_Shift_Del_p.T277fs|SF1_uc001obc.2_Frame_Shift_Del_p.T277fs|SF1_uc001obe.2_Frame_Shift_Del_p.T162fs|SF1_uc010rno.2_Frame_Shift_Del_p.T162fs	NM_004630	NP_001171502	Q15637	SF01_HUMAN	Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.	277					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	RNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TGGTACACACTGTGGTGTTGGT	0.505													82	330	---	---	---	---					
DACH1	1602	broad.mit.edu	37	13	72440704	72440705	+	In_Frame_Ins	INS	-	GCC	GCC			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr13:72440704_72440705insGCC	uc021rkj.1	-	0	626_627	c.203_204insGGC	c.(202-204)gcc>gcGGCc	p.68_68A>AA	DACH1_uc021rkk.1_In_Frame_Ins_p.68_68A>AA|DACH1_uc021rkl.1_In_Frame_Ins_p.68_68A>AA	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	68	Poly-Ala.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGGTGACTGTGGCCGCCGCCGC	0.797													3	4	---	---	---	---					
KIAA0247	9766	broad.mit.edu	37	14	70125381	70125381	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr14:70125381delC	uc001xlk.3	+	1	388	c.72delC	c.(70-72)ttcfs	p.F24fs	KIAA0247_uc010aqz.3_5'UTR	NM_014734	NP_055549	Q92537	K0247_HUMAN	Homo sapiens KIAA0247 (KIAA0247), mRNA.	24						integral to membrane				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		ATGGAGTGTTCCTTCCGCTAG	0.493													23	122	---	---	---	---					
MAZ	4150	broad.mit.edu	37	16	29821006	29821006	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr16:29821006delG	uc002dtx.3	+	4	1593	c.1425delG	c.(1423-1425)ctgfs	p.L475fs	BOLA2_uc010bzb.1_Intron|MAZ_uc010vdx.2_Intron|MAZ_uc002dty.3_Intron|MAZ_uc002dtz.1_3'UTR|AK097472_uc002duc.1_Intron|PRRT2_uc002dud.2_5'Flank|PRRT2_uc002due.4_5'Flank|PRRT2_uc002duf.1_5'Flank	NM_001042539	NP_001036004	P56270	MAZ_HUMAN	Homo sapiens MYC-associated zinc finger protein (purine-binding transcription factor) (MAZ), transcript variant 2, mRNA.	213					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|RNA binding|protein binding|zinc ion binding	p.A478fs*>16(1)		endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						AGACCCATCTGGGGGGGGCCG	0.741													7	13	---	---	---	---					
CDH5	1003	broad.mit.edu	37	16	66431906	66431906	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr16:66431906delC	uc002eom.4	+	8	1538	c.1382delC	c.(1381-1383)tccfs	p.S461fs		NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	461	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		GGAAAAGAATCCATTGTGCAA	0.542													45	131	---	---	---	---					
