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
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	ENST00000404072.3	+	3	439	c.92A>G	c.(91-93)aAc>aGc	p.N31S	PICK1_ENST00000356976.3_Missense_Mutation_p.N31S|PICK1_ENST00000468288.1_3'UTR|RP5-1039K5.13_ENST00000445483.1_RNA	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	31	PDZ.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|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	0.014758	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	ENST00000377069.4	-	18	2905	c.2499C>T	c.(2497-2499)ccC>ccT	p.P833P	KDM2B_ENST00000377071.4_Silent_p.P902P|KDM2B_ENST00000542973.1_Silent_p.P270P|KDM2B_ENST00000536437.1_Intron	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	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	0.009096	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	ENST00000361757.3	-	19	2457	c.2220G>A	c.(2218-2220)caG>caA	p.Q740Q	SBNO2_ENST00000587024.1_Silent_p.Q730Q|SBNO2_ENST00000438103.2_Silent_p.Q683Q	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	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	0.009096	0	0
PIPSL	0	broad.mit.edu	37	10	95720147	95720147	+	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.chr10:95720147C>T	ENST00000480546.1	-	0	1150					NR_002319.2																						TTTACTATTCCGGGCAGGGAT	0.502000													10	80					0	0	0.008291	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	ENST00000358465.2	-	18	3168	c.3085C>T	c.(3085-3087)Cgt>Tgt	p.R1029C	TRIM33_ENST00000450349.2_Missense_Mutation_p.R661C|TRIM33_ENST00000369543.2_Missense_Mutation_p.R1029C	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	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	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|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	0.018920	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	ENST00000285046.5	+	1	2579	c.2469G>A	c.(2467-2469)atG>atA	p.M823I	FGD5_ENST00000543601.1_Missense_Mutation_p.M582I	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	823					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|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	0.003080	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	ENST00000378832.1	+	13	1664	c.1608C>T	c.(1606-1608)ctC>ctT	p.L536L		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	536							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			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	0.014323	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	ENST00000297261.2	-	2	683	c.533A>G	c.(532-534)aAg>aGg	p.K178R		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	178			Missing (in HPE3).		androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|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 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 T cell differentiation in thymus|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	0.008871	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	ENST00000393092.3	+	7	905	c.614G>A	c.(613-615)cGt>cAt	p.R205H	DPEP1_ENST00000421184.1_Missense_Mutation_p.R205H|DPEP1_ENST00000261615.4_Missense_Mutation_p.R205H	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	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	0.008291	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	ENST00000404971.1	-	19	4929	c.3590G>A	c.(3589-3591)aGc>aAc	p.S1197N	NRXN1_ENST00000405472.3_Missense_Mutation_p.S1149N|NRXN1_ENST00000402717.3_Missense_Mutation_p.S1149N|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401710.1_Missense_Mutation_p.S175N|NRXN1_ENST00000401669.2_Missense_Mutation_p.S1157N|NRXN1_ENST00000342183.5_Missense_Mutation_p.S122N|NRXN1_ENST00000406316.2_Missense_Mutation_p.S1157N|NRXN1_ENST00000406859.3_Missense_Mutation_p.S1157N	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	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	0.007413	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	ENST00000377110.2	-	25	4151	c.3908G>A	c.(3907-3909)aGc>aAc	p.S1303N	TRPM3_ENST00000358082.3_Missense_Mutation_p.S1165N|TRPM3_ENST00000357533.2_Missense_Mutation_p.S1307N|TRPM3_ENST00000423814.3_Missense_Mutation_p.S1330N|TRPM3_ENST00000377105.1_Missense_Mutation_p.S1162N|TRPM3_ENST00000408909.2_Missense_Mutation_p.S1162N|TRPM3_ENST00000377106.1_Missense_Mutation_p.S1175N|TRPM3_ENST00000396280.5_Missense_Mutation_p.S1152N|TRPM3_ENST00000377111.2_Missense_Mutation_p.S1303N|TRPM3_ENST00000396285.1_Missense_Mutation_p.S1162N|TRPM3_ENST00000360823.2_Missense_Mutation_p.S1165N|TRPM3_ENST00000396292.4_Missense_Mutation_p.S1175N	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	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	0.020292	0	0
ANKRD30BP2	0	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	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.chr21:14414844T>C	ENST00000507941.1	+	0	95																											ACTGGGCCTGTGCCAATGGCC	0.433000													4	70					0	0	0.014758	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	ENST00000536441.1	-	8	1487	c.1151A>G	c.(1150-1152)aAt>aGt	p.N384S	SESN3_ENST00000278499.2_Missense_Mutation_p.N245S|RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	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	0.009096	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	ENST00000373381.4	-	30	4958	c.4782G>A	c.(4780-4782)ccG>ccA	p.P1594P	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Silent_p.P467P	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	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	0.004990	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	ENST00000400324.4	-	12	1577	c.1357A>G	c.(1357-1359)Ata>Gta	p.I453V	DIAPH3_ENST00000400330.1_Missense_Mutation_p.I453V|DIAPH3_ENST00000400320.1_Missense_Mutation_p.I407V|DIAPH3_ENST00000267215.4_Missense_Mutation_p.I453V|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Missense_Mutation_p.I442V|DIAPH3_ENST00000400319.1_Missense_Mutation_p.I383V	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	453	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase 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	0.006214	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	ENST00000318887.3	+	3	744	c.434T>C	c.(433-435)tTc>tCc	p.F145S	C3orf38_ENST00000486971.1_Intron	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	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	0.004990	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	ENST00000354587.3	-	17	2553	c.2377G>A	c.(2377-2379)Gac>Aac	p.D793N	KCNQ2_ENST00000359125.2_Missense_Mutation_p.D785N|KCNQ2_ENST00000359689.1_Missense_Mutation_p.D785N|KCNQ2_ENST00000357249.2_Missense_Mutation_p.D767N|KCNQ2_ENST00000370224.1_Missense_Mutation_p.D793N|KCNQ2_ENST00000370226.1_Missense_Mutation_p.D755N|KCNQ2_ENST00000430658.1_Missense_Mutation_p.D754N|KCNQ2_ENST00000360480.3_Missense_Mutation_p.D757N|KCNQ2_ENST00000344462.3_Missense_Mutation_p.D781N			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	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	0.006214	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	ENST00000374695.3	-	79	11037	c.10958T>C	c.(10957-10959)tTt>tCt	p.F3653S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	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	0.001984	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	ENST00000401850.1	-	2	1523	c.1034C>T	c.(1033-1035)aCg>aTg	p.T345M	A4GALT_ENST00000249005.2_Missense_Mutation_p.T345M|A4GALT_ENST00000381278.3_Missense_Mutation_p.T345M			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	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	0.010504	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	ENST00000311875.5	-	6	1153	c.736C>T	c.(736-738)Ctc>Ttc	p.L246F	TCP11_ENST00000373974.4_Missense_Mutation_p.L200F|TCP11_ENST00000412155.2_Missense_Mutation_p.L195F|TCP11_ENST00000444780.2_Missense_Mutation_p.L241F|TCP11_ENST00000512012.1_Missense_Mutation_p.L233F|TCP11_ENST00000418521.2_Missense_Mutation_p.L170F|TCP11_ENST00000373979.2_Missense_Mutation_p.L171F|TCP11_ENST00000244645.3_Missense_Mutation_p.L171F			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	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	0.016723	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	ENST00000462315.1	-	8	1691	c.1398C>G	c.(1396-1398)acC>acG	p.T466T	PARP9_ENST00000471785.1_Silent_p.T466T|PARP9_ENST00000477522.2_Silent_p.T466T|PARP9_ENST00000360356.2_Silent_p.T501T|PARP9_ENST00000492382.1_Silent_p.T46T	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	501	Macro 2.				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	0.012319	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	ENST00000372117.3	+	16	1980	c.1877C>T	c.(1876-1878)aCg>aTg	p.T626M	CDHR1_ENST00000440770.2_Missense_Mutation_p.T330M|CDHR1_ENST00000332904.3_Missense_Mutation_p.T626M	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	626	Cadherin 6.				homophilic cell adhesion		calcium ion binding|receptor activity			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	0.006214	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	ENST00000316157.3	-	6	589	c.549G>T	c.(547-549)atG>atT	p.M183I		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	183	HTH La-type RNA-binding.						nucleotide binding|RNA 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					0.00448238	0.00639486	0.004482	1	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	ENST00000316623.5	-	64	8405	c.7950T>C	c.(7948-7950)aaT>aaC	p.N2650N	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	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	0.014410	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	ENST00000270115.7	+	11	1516	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	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	0.014758	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	ENST00000155840.5	+	2	585		c.e2+2		KCNQ1_ENST00000335475.5_Splice_Site	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1						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	0.013726	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	ENST00000247986.2	-	15	3334	c.3024C>T	c.(3022-3024)ctC>ctT	p.L1008L	KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Silent_p.L908L|KIF17_ENST00000400463.3_Silent_p.L1007L			Q9P2E2	KIF17_HUMAN	kinesin family member 17	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	0.008291	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	ENST00000199814.4	-	8	1029	c.908G>A	c.(907-909)gGa>gAa	p.G303E	RBM22_ENST00000540000.1_Missense_Mutation_p.G254E|RBM22_ENST00000447771.2_Missense_Mutation_p.G254E	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	303	RRM.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA 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	0.010729	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	ENST00000271588.4	+	34	5656	c.5427T>C	c.(5425-5427)aaT>aaC	p.N1809N	HMCN1_ENST00000367492.2_Silent_p.N1809N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	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	0.015359	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	ENST00000398208.2	-	4	498	c.439A>G	c.(439-441)Atg>Gtg	p.M147V	WDR4_ENST00000330317.2_Missense_Mutation_p.M147V|WDR4_ENST00000492742.1_5'UTR	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2	P57081	WDR4_HUMAN	WD repeat domain 4	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	0.018920	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	ENST00000339208.6	-	5	516	c.376C>T	c.(376-378)Cga>Tga	p.R126*	SYNRG_ENST00000591288.1_Nonsense_Mutation_p.R126*|SYNRG_ENST00000585472.1_Nonsense_Mutation_p.R125*|SYNRG_ENST00000502449.2_Nonsense_Mutation_p.R126*|SYNRG_ENST00000346661.4_Nonsense_Mutation_p.R126*|SYNRG_ENST00000394378.2_Nonsense_Mutation_p.R126*|SYNRG_ENST00000345615.4_Nonsense_Mutation_p.R126*	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	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	0.004990	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	ENST00000394571.2	+	6	1384		c.e6+2		PNPLA1_ENST00000312917.5_Splice_Site|PNPLA1_ENST00000388715.3_Splice_Site	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1						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	0.014410	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	ENST00000261405.5	-	38	6918	c.6664G>A	c.(6664-6666)Ggc>Agc	p.G2222S		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2222	E2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			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	0.010729	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	ENST00000374994.4	+	5	965	c.848A>G	c.(847-849)cAt>cGt	p.H283R	TGFBR1_ENST00000552516.1_Missense_Mutation_p.H287R|TGFBR1_ENST00000550253.1_Missense_Mutation_p.H214R|TGFBR1_ENST00000374990.2_Missense_Mutation_p.H206R	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	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 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 SMAD protein import into nucleus|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	0.004990	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	ENST00000377818.3	-	2	307	c.223A>C	c.(223-225)Aag>Cag	p.K75Q		NM_001071775.2	NP_001065243.1	Q08AG7	MZT1_HUMAN	mitotic spindle organizing protein 1	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	0.020292	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	ENST00000395670.3	-	18	2896	c.2477A>G	c.(2476-2478)aAa>aGa	p.K826R	KIF21A_ENST00000361418.5_Missense_Mutation_p.K826R|KIF21A_ENST00000541463.2_Intron|KIF21A_ENST00000361961.3_Missense_Mutation_p.K813R|KIF21A_ENST00000544797.2_Missense_Mutation_p.K813R			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	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	0.014410	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	ENST00000254719.5	+	13	1467	c.1357C>G	c.(1357-1359)Ctg>Gtg	p.L453V		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	453					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	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	0.015359	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	ENST00000298910.7	+	19	2553	c.2495A>G	c.(2494-2496)cAa>cGa	p.Q832R	LRRK2_ENST00000343742.2_Missense_Mutation_p.Q832R	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	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	0.010729	0	0
GABRB2	0	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	ENST00000274547.2	-	5	639	c.422G>A	c.(421-423)cGc>cAc	p.R141H	GABRB2_ENST00000517901.1_Missense_Mutation_p.R78H|GABRB2_ENST00000393959.1_Missense_Mutation_p.R141H|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000353437.6_Missense_Mutation_p.R141H|GABRB2_ENST00000520240.1_Missense_Mutation_p.R141H	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	141					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			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	0.024245	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	ENST00000389840.5	-	80	13319	c.13195G>A	c.(13195-13197)Gga>Aga	p.G4399R	DNAH17_ENST00000585328.1_Missense_Mutation_p.G4371R|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATGAAGAGTCCGTACACGTAG	0.532000													11	134					0	0	0.010729	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	ENST00000369950.3	-	13	1881	c.1692G>T	c.(1690-1692)atG>atT	p.M564I	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	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					0.00116845	0.00168951	0.021553	1	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	ENST00000330891.5	-	5	769	c.543T>C	c.(541-543)taT>taC	p.Y181Y	BEST3_ENST00000553096.1_Silent_p.Y75Y|BEST3_ENST00000488961.1_Silent_p.Y19Y|BEST3_ENST00000476098.1_Silent_p.Y19Y|BEST3_ENST00000331471.4_Silent_p.Y181Y	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	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	0.001984	0	0
IGHV1-18	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	ENST00000390605.2	-	0	392																											CAGTAATACACGGCCGTGTCG	0.542000													91	69					0	0	0.014410	0	0
CYP19A1	0	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	ENST00000396402.1	-	8	1169	c.1016T>C	c.(1015-1017)gTt>gCt	p.V339A	CYP19A1_ENST00000396404.4_Missense_Mutation_p.V339A|CYP19A1_ENST00000260433.2_Missense_Mutation_p.V339A|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000559878.1_Missense_Mutation_p.V339A	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	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	0.008291	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	ENST00000397910.4	-	31	38559	c.38356C>G	c.(38356-38358)Cag>Gag	p.Q12786E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	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	0.014410	0	0
GRIP2	80852	broad.mit.edu	37	3	14536380	14536380	+	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.chr3:14536380C>T	ENST00000273083.3	-	0	3005							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						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	0.010729	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	ENST00000217939.6	-	7	8002	c.7848C>T	c.(7846-7848)tgC>tgT	p.C2616C		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	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	0.016723	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	ENST00000328771.4	+	2	887	c.538G>A	c.(538-540)Gtg>Atg	p.V180M		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	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	0.013537	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	ENST00000373912.3	-	2	355	c.56G>A	c.(55-57)gGc>gAc	p.G19D	RPA2_ENST00000313433.7_Missense_Mutation_p.G107D|RPA2_ENST00000373909.3_Missense_Mutation_p.G27D	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	19	Gly/Ser-rich.				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|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	0.001984	0	0
FRG1B	0	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	ENST00000278882.3	+	5	509	c.129A>T	c.(127-129)aaA>aaT	p.K43N	FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N														p.K43N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353000													5	95					0	0	0.004482	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	ENST00000319675.3	-	1	1168	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	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	0.015359	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	ENST00000319294.6	+	3	293	c.262C>T	c.(262-264)Ctt>Ttt	p.L88F	UBASH3A_ENST00000291535.6_Missense_Mutation_p.L88F|UBASH3A_ENST00000398367.1_Missense_Mutation_p.L88F|UBASH3A_ENST00000450356.1_Missense_Mutation_p.L88F	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	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	0.009096	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	ENST00000427390.2	-	4	498	c.408G>A	c.(406-408)acG>acA	p.T136T		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	136								p.T136T(1)		NS(3)|endometrium(4)|kidney(1)|skin(3)	11						TTTTCTGACACGTAAGGATTC	0.493000													5	51					0	0	0.021553	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	ENST00000297293.5	+	11	2778	c.2485G>A	c.(2485-2487)Gta>Ata	p.V829I		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	829					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|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	0.009718	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	ENST00000378402.5	+	49	8235	c.8131G>A	c.(8131-8133)Ggc>Agc	p.G2711S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	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	0.018920	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	ENST00000233242.1	-	26	6161	c.6034C>T	c.(6034-6036)Cga>Tga	p.R2012*		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	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	0.021022	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	ENST00000322810.4	-	24	3529	c.3360G>T	c.(3358-3360)caG>caT	p.Q1120H	PLEC_ENST00000436759.2_Missense_Mutation_p.Q1010H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q969H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q987H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q1006H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q961H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q983H|PLEC_ENST00000398774.2_Missense_Mutation_p.Q951H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q983H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	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					6.40141e-05	9.38289e-05	0.010729	1	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	ENST00000279593.3	-	13	3665	c.3456C>T	c.(3454-3456)acC>acT	p.T1152T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1152					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|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	0.014323	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	ENST00000354181.3	-	4	871	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	SLC12A6_ENST00000558667.1_Missense_Mutation_p.E127K|SLC12A6_ENST00000458406.2_Missense_Mutation_p.E68K|SLC12A6_ENST00000397702.2_Missense_Mutation_p.E68K|SLC12A6_ENST00000397707.2_Missense_Mutation_p.E112K|SLC12A6_ENST00000290209.5_Missense_Mutation_p.E76K|SLC12A6_ENST00000451844.2_5'UTR|SLC12A6_ENST00000560611.1_Missense_Mutation_p.E127K|SLC12A6_ENST00000560164.1_5'UTR|SLC12A6_ENST00000558589.1_Missense_Mutation_p.E118K			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	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	0.006214	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	ENST00000444842.2	+	6	981	c.831C>T	c.(829-831)tcC>tcT	p.S277S	KCNK2_ENST00000391895.2_Silent_p.S273S|KCNK2_ENST00000391894.2_Silent_p.S262S	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	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	0.014410	0	0
FAM209A	200232	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	ENST00000371328.3	+	1	438	c.115G>A	c.(115-117)Gga>Aga	p.G39R	GCNT7_ENST00000243913.4_Intron|FAM209A_ENST00000481560.1_3'UTR	NM_001012971.3	NP_001012989.2			family with sequence similarity 209, member A																		GGTGCAATACGGAGAGCACTT	0.517000													8	112					0	0	0.008291	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	ENST00000360003.3	-	5	541	c.372G>A	c.(370-372)ttG>ttA	p.L124L	MCMBP_ENST00000369077.3_Silent_p.L124L|MCMBP_ENST00000466047.1_5'UTR	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	124					cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|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	0.003080	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	ENST00000446394.1	+	15	1633		c.e15+1		HECTD2_ENST00000298068.5_Splice_Site|HECTD2_ENST00000371667.1_Splice_Site|HECTD2_ENST00000536715.1_Splice_Site			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2						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	0.028581	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	ENST00000392045.3	+	19	1887	c.1773A>G	c.(1771-1773)ccA>ccG	p.P591P	SP140_ENST00000486687.2_Silent_p.P515P|SP140_ENST00000343805.6_Silent_p.P531P|SP140_ENST00000417495.3_Silent_p.P477P|SP140_ENST00000350136.5_Silent_p.P460P|SP140_ENST00000420434.3_Silent_p.P564P	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	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	0.009096	0	0
LRRC41	10489	broad.mit.edu	37	1	46751117	46751117	+	Frame_Shift_Del	DEL	G	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	ENST00000343304.6	-	4	1697	c.1412delC	c.(1411-1413)cafs	p.P471fs	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	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			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	ENST00000429927.2	-	3	925_926	c.222_223insA	c.(220-225)aagatgfs	p.M75fs	CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.M75fs	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	75	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	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	ENST00000377390.3	-	8	1167_1168	c.830_831delCA	c.(829-831)afs	p.T277fs	SF1_ENST00000377394.3_Frame_Shift_Del_p.T277fs|SF1_ENST00000422298.2_Frame_Shift_Del_p.T162fs|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000227503.9_Frame_Shift_Del_p.T277fs|SF1_ENST00000433274.2_Frame_Shift_Del_p.T251fs|SF1_ENST00000334944.5_Frame_Shift_Del_p.T277fs|SF1_ENST00000377387.1_Frame_Shift_Del_p.T402fs	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	277					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA 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			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	ENST00000305425.4	-	1	625_626	c.203_204insGGC	c.(202-204)gac>gGGCac	p.68_68D>GH	DACH1_ENST00000359684.2_In_Frame_Ins_p.68_68D>GH|DACH1_ENST00000354591.4_In_Frame_Ins_p.68_68D>GH|DACH1_ENST00000313174.7_In_Frame_Ins_p.68_68D>GH	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	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	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	ENST00000342745.4	+	2	385	c.72delC	c.(70-72)ttfs	p.F24fs		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	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	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	ENST00000219782.6	+	5	1531	c.1425delG	c.(1423-1425)ctfs	p.L475fs	AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000568282.1_Frame_Shift_Del_p.L76fs|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000545521.1_Intron|MAZ_ENST00000566906.2_Intron|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000322945.6_Intron|MAZ_ENST00000568544.1_Intron	NM_001042539.1	NP_001036004.1	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	213					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	p.A478fs*>16(1)		endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						AGACCCATCTGGGGGGGGCCG	0.741													7	13	---	---	---	---					
RP11-1166P10.6	0	broad.mit.edu	37	16	32095553	32095553	+	RNA	DEL	G	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.chr16:32095553delG	ENST00000566806.1	-	0	499																											CTGGGGCCCCGAGGGAGATGT	0.642													4	9	---	---	---	---					
CDH5	1003	broad.mit.edu	37	16	66431906	66431906	+	Frame_Shift_Del	DEL	C	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	ENST00000341529.3	+	9	1530	c.1382delC	c.(1381-1383)tcfs	p.S461fs	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	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	---	---	---	---