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
RANGAP1	5905	broad.mit.edu	37	22	41650338	41650338	+	Missense_Mutation	SNP	G	G	A	rs139571477	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr22:41650338G>A	ENST00000455915.2	-	10	2703	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W	RANGAP1_ENST00000356244.3_Missense_Mutation_p.R412W|RANGAP1_ENST00000407260.4_Missense_Mutation_p.R357W|RANGAP1_ENST00000405486.1_Missense_Mutation_p.R412W			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	412					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGAATCTTCCGTGAGGGCGTG	0.552000													63	252					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	rs121913495		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr20:57484421G>A	ENST00000371100.4	+	8	3083	c.2531G>A	c.(2530-2532)cGt>cAt	p.R844H	GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000371085.3_Missense_Mutation_p.R201H|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	201					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTTCGCTGCCGTGTCCTGACT	0.423000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			5	308					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118550780	118550780	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:118550780G>A	ENST00000336338.5	-	31	4539	c.4474C>T	c.(4474-4476)Cgg>Tgg	p.R1492W		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1492						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTTCTACCCGCATACACTTC	0.493000													16	194					0	0	1	0	0
ASS1	445	broad.mit.edu	37	9	133364801	133364801	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:133364801G>A	ENST00000372394.1	+	13	1401	c.920G>A	c.(919-921)cGc>cAc	p.R307H	ASS1_ENST00000372393.3_Missense_Mutation_p.R307H|ASS1_ENST00000352480.5_Missense_Mutation_p.R307H			P00966	ASSY_HUMAN	argininosuccinate synthase 1	307			R -> C (in CTLN1).		arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CGGGAAGTGCGCAAAATCAAA	0.532000													6	909					0	0	1	0	0
IGHV3-21	0	broad.mit.edu	37	14	106691922	106691922	+	RNA	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr14:106691922C>T	ENST00000390607.2	-	0	180																											TCAGGGACCCCCCAGGCTTGA	0.587000													10	749					0	0	1	0	0
ZNF227	7770	broad.mit.edu	37	19	44739673	44739673	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:44739673A>T	ENST00000313040.7	+	6	1295	c.1090A>T	c.(1090-1092)Agt>Tgt	p.S364C	ZNF227_ENST00000391961.2_Missense_Mutation_p.S313C|ZNF227_ENST00000589005.1_Missense_Mutation_p.S313C	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CTTTAGTCAAAGTTCAAATTT	0.423000													5	327					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67016614	67016614	+	Missense_Mutation	SNP	C	C	T	rs61740908		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:67016614C>T	ENST00000340001.4	-	19	2726	c.2515G>A	c.(2515-2517)Gtg>Atg	p.V839M	ABCA9_ENST00000453985.2_Missense_Mutation_p.V839M|ABCA9_ENST00000370732.2_Missense_Mutation_p.V839M	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	839					transport	integral to membrane	ATP binding|ATPase activity	p.V839M(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CAGAGCGCCACGCCACTGATT	0.443000													10	545					0	0	1	0	0
CHAF1B	8208	broad.mit.edu	37	21	37783861	37783861	+	Silent	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr21:37783861C>T	ENST00000314103.4	+	11	1171	c.1020C>T	c.(1018-1020)taC>taT	p.Y340Y		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	340					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						CTTTTGGTTACGTGTCTAATA	0.522000													6	761					0	0	1	0	0
EIF2B5	8893	broad.mit.edu	37	3	183855998	183855998	+	Silent	SNP	T	T	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr3:183855998T>C	ENST00000273783.3	+	5	851	c.729T>C	c.(727-729)gaT>gaC	p.D243D	EIF2B5_ENST00000444495.1_Silent_p.D243D	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	243					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TTCGATATGATTTACTGGATT	0.478000													20	439					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51400102	51400102	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr3:51400102C>T	ENST00000266037.9	+	49	5313	c.5290C>T	c.(5290-5292)Cga>Tga	p.R1764*		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1764	Ser-rich.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTCCAGTGCCCGAGGTAAGGA	0.562000													26	50					0	0	1	0	0
ACADL	33	broad.mit.edu	37	2	211070474	211070474	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:211070474G>A	ENST00000233710.3	-	6	877	c.650C>T	c.(649-651)gCg>gTg	p.A217V	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	217					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		ATTTGTGACCGCAACTACAAT	0.398000													6	347					0	0	1	0	0
ZNF404	342908	broad.mit.edu	37	19	44388109	44388109	+	Splice_Site	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:44388109C>T	ENST00000587539.1	-	1	7	c.9_splice	c.e1+1	p.R3_splice	ZNF404_ENST00000588094.1_5'UTR	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TCAACTCACCCGGGCCATGGT	0.388000													41	169					0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154292538	154292538	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:154292538G>A	ENST00000285873.7	-	14	1991	c.1916C>T	c.(1915-1917)aCg>aTg	p.T639M		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	639					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AATCTTGGCCGTATGCCCTGA	0.522000													5	315					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198267359	198267359	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:198267359C>G	ENST00000335508.5	-	14	2089	c.1998G>C	c.(1996-1998)aaG>aaC	p.K666N		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	666					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.K666N(19)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTGTACAATCTTAATACCAG	0.413000			Mis		myelodysplastic syndrome								11	319					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26736580	26736580	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr22:26736580T>C	ENST00000529632.2	+	10	2390	c.2194T>C	c.(2194-2196)Ttt>Ctt	p.F732L	SEZ6L_ENST00000248933.6_Missense_Mutation_p.F732L|SEZ6L_ENST00000403121.1_Missense_Mutation_p.F505L|SEZ6L_ENST00000404234.3_Missense_Mutation_p.F732L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.F732L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.F505L|SEZ6L_ENST00000360929.3_Missense_Mutation_p.F732L	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	732	CUB 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GGGCCAGGGATTTATCATGAA	0.458000													33	192					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													4	199					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61525110	61525110	+	Silent	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr20:61525110C>T	ENST00000266070.4	-	12	3334	c.3009G>A	c.(3007-3009)ttG>ttA	p.L1003L	DIDO1_ENST00000395335.2_Silent_p.L1003L|DIDO1_ENST00000395343.1_Silent_p.L1003L|DIDO1_ENST00000395340.1_Silent_p.L1003L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1003					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCACAGAAGTCAAGACAGGCT	0.567000													6	480					0	0	1	0	0
KIF24	347240	broad.mit.edu	37	9	34256356	34256356	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:34256356C>G	ENST00000379166.2	-	11	3368	c.3249G>C	c.(3247-3249)gaG>gaC	p.E1083D	KIF24_ENST00000379174.3_Missense_Mutation_p.E949D|KIF24_ENST00000402558.2_Missense_Mutation_p.E1083D|KIF24_ENST00000345050.2_Missense_Mutation_p.E949D	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1083					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CCCCTGTGCTCTCTGCCACTA	0.602000													13	194					0	0	1	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114454068	114454068	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:114454068T>G	ENST00000369563.3	+	4	1300	c.854T>G	c.(853-855)tTt>tGt	p.F285C	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	285					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTCGTGCCTTTGTCGCAGCA	0.567000								Other identified genes with known or suspected DNA repair function					64	297					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1																						ATCTTCTGCAATTCGGAGTCC	0.652000													4	286					0	0	1	0	0
USP44	84101	broad.mit.edu	37	12	95922666	95922666	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:95922666G>A	ENST00000258499.3	-	3	1829	c.1541C>T	c.(1540-1542)cCa>cTa	p.P514L	USP44_ENST00000393091.2_Missense_Mutation_p.P514L|USP44_ENST00000537435.2_Missense_Mutation_p.P514L|USP44_ENST00000552440.1_Intron	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	514					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						AACCAGACATGGCTGGGAAGC	0.393000													50	247					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													10	575					0	0	1	0	0
FDX1	2230	broad.mit.edu	37	11	110327723	110327723	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:110327723C>A	ENST00000260270.2	+	3	630	c.392C>A	c.(391-393)aCt>aAt	p.T131N		NM_004109.4	NP_004100.1	P10109	ADX_HUMAN	ferredoxin 1	131	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding			lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	GATGCAATCACTGATGAGGAG	0.403000													12	689					0.010729	0.0107778	1	1	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													11	254					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5242275	5242275	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:5242275G>A	ENST00000274181.7	+	17	2771	c.2633G>A	c.(2632-2634)cGc>cAc	p.R878H		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	878	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCCATCGTGCGCTCTGAGTGC	0.642000													29	170					0	0	1	0	0
ZNF114	163071	broad.mit.edu	37	19	48789674	48789674	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:48789674A>C	ENST00000595607.1	+	6	1287	c.793A>C	c.(793-795)Atg>Ctg	p.M265L	ZNF114_ENST00000600687.1_Missense_Mutation_p.M265L|ZNF114_ENST00000315849.1_Missense_Mutation_p.M265L|ZNF114_ENST00000597695.1_Missense_Mutation_p.M231L			Q8NC26	ZN114_HUMAN	zinc finger protein 114	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		AATTCACGCCATGCAGATGCA	0.463000													12	383					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413623	178413623	+	Silent	SNP	G	G	A	rs139758482		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:178413623G>A	ENST00000231188.5	-	8	1810	c.1632C>T	c.(1630-1632)gaC>gaT	p.D544D	GRM6_ENST00000517717.1_Silent_p.D544D|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	544					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AGCGGTACCCGTCACAGGCCT	0.682000													8	239					0	0	1	0	0
CUL4B	8450	broad.mit.edu	37	X	119674244	119674244	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chrX:119674244A>C	ENST00000371322.5	-	11	1678	c.1617T>G	c.(1615-1617)aaT>aaG	p.N539K	CUL4B_ENST00000404115.3_Missense_Mutation_p.N557K|CUL4B_ENST00000336592.6_Missense_Mutation_p.N544K	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	557					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGCTGGTTTATTTGGTCTTT	0.308000													44	87					0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161953983	161953983	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:161953983G>A	ENST00000294794.3	-	8	2158	c.1735C>T	c.(1735-1737)Cgc>Tgc	p.R579C	OLFML2B_ENST00000367938.1_Missense_Mutation_p.R62C|OLFML2B_ENST00000367940.2_Missense_Mutation_p.R580C	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	579	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GTGAAGGCGCGATTGTAGTAG	0.597000													60	264					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48704920	48704920	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr15:48704920C>T	ENST00000316623.5	-	65	8527	c.8072G>A	c.(8071-8073)gGc>gAc	p.G2691D	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2691					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)		TCGGCCCATGCCCATTCCAGA	0.502000													6	713					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103022865	103022865	+	Splice_Site	SNP	A	A	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:103022865A>T	ENST00000375735.2	+	21	3091	c.2946_splice	c.e21-1	p.I983_splice	DYNC2H1_ENST00000398093.3_Splice_Site_p.I983_splice|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	983	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TAACCTTTAGATTTTGCCCTT	0.269000													13	117					0	0	1	0	0
TXNDC2	0	broad.mit.edu	37	18	9886894	9886894	+	Missense_Mutation	SNP	A	A	G	rs146821851		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr18:9886894A>G	ENST00000306084.6	+	2	617	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	140	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	p.K140E(2)|p.K73E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAAAAGCCATCCA	0.547000													6	642					0	0	1	0	0
POM121L9P	0	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1																						CTCTCTCCTGTGGGAGGGGGG	0.632000													5	61					0	0	1	0	0
UBASH3B	84959	broad.mit.edu	37	11	122667627	122667627	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:122667627A>G	ENST00000284273.5	+	9	1618	c.1243A>G	c.(1243-1245)Ata>Gta	p.I415V		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	415	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		AGGCCGCTACATACGCACCAA	0.473000													16	287					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9197372	9197372	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:9197372C>T	ENST00000382496.5	-	10	1641	c.976G>A	c.(976-978)Gcc>Acc	p.A326T		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	326	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGCGCGATGGCGCTCAGGTTG	0.597000													54	389					0	0	1	0	0
RTN4RL1	146760	broad.mit.edu	37	17	1840902	1840902	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:1840902C>T	ENST00000331238.5	-	2	232	c.214G>A	c.(214-216)Ggc>Agc	p.G72S		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	72					axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CTGAAGTGGCCGGGCTGGAGG	0.637000													26	137					0	0	1	0	0
CATSPER2P1	0	broad.mit.edu	37	15	44028268	44028268	+	RNA	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr15:44028268C>T	ENST00000381680.2	-	0	1516					NR_002318.2																						agccaccgcacccggccAATT	0.532000													74	258					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			26	179					0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151271898	151271898	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:151271898T>A	ENST00000274576.4	-	2	450	c.158A>T	c.(157-159)gAt>gTt	p.D53V	GLRA1_ENST00000545569.1_Intron|GLRA1_ENST00000455880.2_Missense_Mutation_p.D53V|GLRA1_ENST00000471351.2_5'UTR	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	53					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GATCCTGGCATCATATCCGGA	0.498000													14	367					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1256207	1256207	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr16:1256207C>A	ENST00000348261.5	+	12	2955	c.2707C>A	c.(2707-2709)Cgc>Agc	p.R903S	CACNA1H_ENST00000358590.4_Missense_Mutation_p.R903S|CACNA1H_ENST00000565831.1_Missense_Mutation_p.R903S	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	903					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	AGCCCTGCGGCGCCAGCTCGT	0.632000													9	39					1.58986e-06	1.64958e-06	1	1	0
SMYD4	114826	broad.mit.edu	37	17	1703597	1703597	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:1703597C>T	ENST00000305513.7	-	5	1258	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	364							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						TATGATTTTGCGAACATCCTC	0.453000													6	364					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108_splice	c.e1+1	p.Q36_splice	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	497					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000													8	155					0	0	1	0	0
ZNF733P	0	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													4	139					0	0	1	0	0
ZNF724P	0	broad.mit.edu	37	19	23414139	23414139	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:23414139A>G	ENST00000418100.1	-	3	272	c.155T>C	c.(154-156)cTg>cCg	p.L52P	ZNF724P_ENST00000597037.1_Missense_Mutation_p.L52P																endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						ACAGGTGATCAGGTCTGGCTT	0.403000													6	602					0	0	1	0	0
IGHA2	0	broad.mit.edu	37	14	106054658	106054658	+	RNA	SNP	T	T	G	rs114771275	by1000genomes	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr14:106054658T>G	ENST00000390539.2	-	0	74																											GGACCAGGCATGCGACGACCA	0.622000													6	297					0	0	1	0	0
C16orf11	146325	broad.mit.edu	37	16	615296	615296	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr16:615296G>A	ENST00000409413.3	+	3	1984	c.1705G>A	c.(1705-1707)Gcc>Acc	p.A569T		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	569										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CCCCCAGGGCGCCGAGGTCTG	0.677000													11	37					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98205957	98205957	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:98205957A>C	ENST00000370192.3	-	4	412	c.312T>G	c.(310-312)atT>atG	p.I104M	DPYD_ENST00000306031.5_Missense_Mutation_p.I104M|DPYD_ENST00000423006.2_Missense_Mutation_p.I67M	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	104					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CCTTGTTTGCAATACTTGTGA	0.343000													72	326					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21098813	21098813	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr10:21098813G>A	ENST00000377122.4	-	25	2929	c.2533C>T	c.(2533-2535)Cgc>Tgc	p.R845C	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	845	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle	p.R845C(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GGATCTGTGCGCCAAACTTTG	0.383000													67	219					0	0	1	0	0
CGREF1	10669	broad.mit.edu	37	2	27324303	27324303	+	Missense_Mutation	SNP	C	C	T	rs113949888		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:27324303C>T	ENST00000402394.1	-	6	1064	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000260595.5_Missense_Mutation_p.E249K|CGREF1_ENST00000405600.1_Missense_Mutation_p.E266K|CGREF1_ENST00000312734.4_Missense_Mutation_p.E266K|CGREF1_ENST00000404694.3_Missense_Mutation_p.E388K|CGREF1_ENST00000402550.1_Intron	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	258					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATCTCCTTCAGCCTCTGCC	0.687000													6	705					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186277190	186277190	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:186277190G>A	ENST00000445192.2	+	7	2384	c.2339G>A	c.(2338-2340)gGg>gAg	p.G780E	PRG4_ENST00000367483.4_Missense_Mutation_p.G739E|PRG4_ENST00000367486.3_Missense_Mutation_p.G737E|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.G687E	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	780	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCCTAAGGGGACTGCTCCA	0.607000													8	853					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527000			T	MLL	ALL								8	203					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119914985	119914985	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr7:119914985G>A	ENST00000331113.4	+	1	1264	c.299G>A	c.(298-300)cGc>cAc	p.R100H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	100					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					AATTTCTACCGCACTGGGAAG	0.522000													19	891					0	0	1	0	0
CYLD	1540	broad.mit.edu	37	16	50827516	50827516	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr16:50827516G>A	ENST00000540145.1	+	17	2825	c.2410G>A	c.(2410-2412)Gac>Aac	p.D804N	CYLD_ENST00000568704.2_Missense_Mutation_p.D619N|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000566206.1_Missense_Mutation_p.D801N|CYLD_ENST00000427738.3_Missense_Mutation_p.D804N|CYLD_ENST00000398568.2_Missense_Mutation_p.D801N|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Missense_Mutation_p.D804N|CYLD_ENST00000564326.1_Missense_Mutation_p.D801N|CYLD_ENST00000569418.1_Missense_Mutation_p.D801N			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	804					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AGAATGCTACGACGATCCGGA	0.438000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				14	618					0	0	1	0	0
ETF1	2107	broad.mit.edu	37	5	137844426	137844426	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:137844426G>A	ENST00000499810.2	-	10	1512	c.1064C>T	c.(1063-1065)aCg>aTg	p.T355M	ETF1_ENST00000360541.5_Missense_Mutation_p.T388M|ETF1_ENST00000503014.1_Missense_Mutation_p.T374M			P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	388					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AATTTCCAACGTAGCTCCAAA	0.413000													6	878					0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70757810	70757810	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chrX:70757810G>A	ENST00000373719.3	+	3	567	c.350G>A	c.(349-351)cGt>cAt	p.R117H	OGT_ENST00000373701.3_Missense_Mutation_p.R107H|OGT_ENST00000498566.1_3'UTR	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	117					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	p.R117H(1)|p.R107H(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CATGCATTGCGTCTCAAACCT	0.493000													75	106					0	0	1	0	0
SLC6A15	55117	broad.mit.edu	37	12	85255590	85255590	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:85255590C>T	ENST00000266682.5	-	12	2555	c.2014G>A	c.(2014-2016)Gat>Aat	p.D672N	SLC6A15_ENST00000309283.7_3'UTR|SLC6A15_ENST00000552192.1_Missense_Mutation_p.D565N	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	672					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CTTGTATCATCGCCCTCTAAG	0.423000													124	507					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121740416	121740416	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:121740416C>T	ENST00000452319.1	+	11	1703	c.1643C>T	c.(1642-1644)tCg>tTg	p.S548L	GLI2_ENST00000314490.11_Missense_Mutation_p.S220L|GLI2_ENST00000361492.4_Missense_Mutation_p.S548L|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	548					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TCCAACGCCTCGGACCGCGCC	0.637000													50	281					0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39596894	39596894	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:39596894C>T	ENST00000246646.3	-	1	279	c.280G>A	c.(280-282)Gcc>Acc	p.A94T		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	94	Head.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TCACCATAGGCCCCACAGATT	0.602000													69	312					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149513539	149513539	+	RNA	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr7:149513539G>A	ENST00000378016.2	+	0	11160							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCACGTCACGCAGCAGGTGG	0.692000													8	44					0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5475027	5475027	+	Silent	SNP	T	T	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:5475027T>A	ENST00000341449.2	+	1	390	c.309T>A	c.(307-309)ctT>ctA	p.L103L	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATGTTTCTTATTCACTTCT	0.483000													92	431					0	0	1	0	0
TMEM116	89894	broad.mit.edu	37	12	112374530	112374530	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:112374530A>T	ENST00000354825.3	-	10	933	c.278T>A	c.(277-279)cTg>cAg	p.L93Q	TMEM116_ENST00000355445.3_Missense_Mutation_p.L150Q|TMEM116_ENST00000437003.2_Missense_Mutation_p.L93Q|TMEM116_ENST00000552374.2_Missense_Mutation_p.L185Q|TMEM116_ENST00000549537.2_Intron|TMEM116_ENST00000550831.3_Missense_Mutation_p.L93Q			Q8NCL8	TM116_HUMAN	transmembrane protein 116	93						integral to membrane				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						AAAGCTGCCCAGGAAAATGGC	0.478000													52	227					0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5475025	5475025	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:5475025C>A	ENST00000341449.2	+	1	388	c.307C>A	c.(307-309)Ctt>Att	p.L103I	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGATGTTTCTTATTCACTT	0.483000													95	425					1.40862e-40	1.53352e-40	1	1	0
SARS2	54938	broad.mit.edu	37	19	39421234	39421234	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:39421234G>A	ENST00000221431.6	-	1	302	c.143C>T	c.(142-144)gCg>gTg	p.A48V	SARS2_ENST00000430193.3_Missense_Mutation_p.A48V|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V|MRPS12_ENST00000308018.4_5'UTR|CTC-360G5.8_ENST00000599996.1_Intron	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	48					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCCCTCGCGCGCATACTCGTA	0.627000											OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	589					0	0	1	0	0
EPC2	26122	broad.mit.edu	37	2	149542414	149542414	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:149542414A>G	ENST00000258484.6	+	13	2229	c.2195A>G	c.(2194-2196)cAc>cGc	p.H732R		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	732					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AATGCAGTGCACCTCAATAAT	0.473000													23	187					0	0	1	0	0
RPL28	6158	broad.mit.edu	37	19	55899358	55899358	+	Missense_Mutation	SNP	C	C	T	rs150642428		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:55899358C>T	ENST00000344063.2	+	4	895	c.266C>T	c.(265-267)aCg>aTg	p.T89M	RPL28_ENST00000558815.1_Missense_Mutation_p.T89M|RPL28_ENST00000559463.1_Missense_Mutation_p.T89M|RPL28_ENST00000458349.2_Missense_Mutation_p.T89M|RPL28_ENST00000560055.1_Missense_Mutation_p.T89M|RPL28_ENST00000558131.1_Missense_Mutation_p.R83C|RPL28_ENST00000560583.1_Missense_Mutation_p.T89M			P46779	RL28_HUMAN	ribosomal protein L28	89					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GCTCGCGCCACGCTCAGCAGC	0.622000													17	379					0	0	1	0	0
GBX1	2636	broad.mit.edu	37	7	150845978	150845978	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr7:150845978G>A	ENST00000297537.4	-	2	789	c.790C>T	c.(790-792)Cgc>Tgc	p.R264C		NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	264						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTGTGCGGCGCCGTCGGCTT	0.582000													23	502					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:45128812C>T	ENST00000575173.1	-	0	418																											AGTCCTGTTTCTGTGTGGATT	0.373000													4	133					0	0	1	0	0
PRSS3P2	0	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A	rs145494190	by1000genomes	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3													p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493000													10	252					0	0	1	0	0
HNRNPLL	92906	broad.mit.edu	37	2	38812916	38812916	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:38812916G>A	ENST00000449105.2	-	3	755	c.416C>T	c.(415-417)gCt>gTt	p.A139V	HNRNPLL_ENST00000409328.1_Missense_Mutation_p.A139V|HNRNPLL_ENST00000409636.1_Missense_Mutation_p.A134V|HNRNPLL_ENST00000410076.1_Missense_Mutation_p.A134V|HNRNPLL_ENST00000358367.4_Missense_Mutation_p.A139V|HNRNPLL_ENST00000378915.3_Missense_Mutation_p.A139V	NM_138394.3	NP_612403.2			heterogeneous nuclear ribonucleoprotein L-like																		CTGTTGACCAGCAATGTACAC	0.418000													22	660					0	0	1	0	0
TBC1D23	55773	broad.mit.edu	37	3	100016873	100016873	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr3:100016873C>T	ENST00000394144.4	+	9	990	c.983C>T	c.(982-984)gCg>gTg	p.A328V	TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Missense_Mutation_p.A191V|TBC1D23_ENST00000344949.5_Missense_Mutation_p.A328V	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	328						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						ATCCTTCAAGCGAATCAGCTA	0.443000													8	181					0	0	1	0	0
CHD6	0	broad.mit.edu	37	20	40085993	40085993	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr20:40085993C>T	ENST00000373233.3	-	18	2917	c.2740G>A	c.(2740-2742)Gag>Aag	p.E914K	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	914	Helicase C-terminal.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ATCTCGCGCTCGTAGGAATTT	0.542000													57	230					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112176765	112176765	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:112176765A>G	ENST00000457016.1	+	16	5854	c.5474A>G	c.(5473-5475)gAt>gGt	p.D1825G	APC_ENST00000257430.4_Missense_Mutation_p.D1825G|APC_ENST00000508376.2_Missense_Mutation_p.D1825G|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1825	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GTCTTCAATGATAAGCTCCCA	0.333000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			49	203					0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55905125	55905125	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:55905125G>T	ENST00000301529.1	-	1	69	c.70C>A	c.(70-72)Cag>Aag	p.Q24K		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AGGGGAATCTGGAGCTCTGGA	0.488000													110	437					8.98033e-41	9.82502e-41	1	1	0
KLHL40	131377	broad.mit.edu	37	3	42727555	42727555	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr3:42727555G>A	ENST00000287777.4	+	1	545	c.445G>A	c.(445-447)Gcc>Acc	p.A149T		NM_152393.2	NP_689606.2			kelch-like family member 40																		CGCGCGTCTCGCCGTGGCTGC	0.647000													134	174					0	0	1	0	0
SV2A	0	broad.mit.edu	37	1	149877463	149877463	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:149877463A>C	ENST00000369146.3	-	12	2504	c.2014T>G	c.(2014-2016)Ttg>Gtg	p.L672V	SV2A_ENST00000369145.1_Missense_Mutation_p.L672V	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	672					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TCAACAGTCAACACGTCCAGC	0.557000													11	877					0	0	1	0	0
RSRC2	65117	broad.mit.edu	37	12	123005948	123005948	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:123005948C>T	ENST00000331738.7	-	3	336	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	RSRC2_ENST00000354654.2_Missense_Mutation_p.G9R	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	64	Ser-rich.									breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		GCTTCTGCTCCGGCTCCTGTG	0.308000													4	253					0	0	1	0	0
OPRD1	4985	broad.mit.edu	37	1	29189523	29189523	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:29189523G>A	ENST00000234961.2	+	3	1089	c.847G>A	c.(847-849)Gtc>Atc	p.V283I		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	283					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	CTTCGTCATCGTCTGGACGCT	0.662000													4	66					0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461676	11461676	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:11461676G>A	ENST00000279575.1	-	3	274	c.241C>T	c.(241-243)Cga>Tga	p.R81*	PRB4_ENST00000535904.1_Nonsense_Mutation_p.R81*|PRB4_ENST00000445719.2_Nonsense_Mutation_p.R81*	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	81	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			Missing (in Ref. 7; CAA30542).		extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TGTGGGGGTCGTCCTTCTGGC	0.617000										HNSCC(22;0.051)			8	1375					0	0	1	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													9	706					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160087288	160087288	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:160087288C>T	ENST00000263635.6	+	27	5588	c.5351C>T	c.(5350-5352)aCc>aTc	p.T1784I	TANC1_ENST00000454300.1_Missense_Mutation_p.T1678I	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1784						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CAAGCCAAAACCTGTTCTGTT	0.498000													40	138					0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14006194	14006194	+	Missense_Mutation	SNP	G	G	A	rs145142690		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:14006194G>A	ENST00000454313.1	-	3	255	c.197C>T	c.(196-198)gCc>gTc	p.A66V	C19orf57_ENST00000586783.1_Missense_Mutation_p.A66V|C19orf57_ENST00000346736.2_Missense_Mutation_p.A66V|C19orf57_ENST00000591586.1_Missense_Mutation_p.A66V			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	66					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CCTGGAGACGGCCTTTCCTGG	0.562000													76	404					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248817	20248817	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr14:20248817G>A	ENST00000315957.4	+	1	417	c.336G>A	c.(334-336)atG>atA	p.M112I		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTCGGAGATGTTCTTGCTCA	0.478000													129	1889					0	0	1	0	0
BMX	660	broad.mit.edu	37	X	15526493	15526493	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chrX:15526493T>C	ENST00000357607.2	+	2	205	c.17T>C	c.(16-18)aTt>aCt	p.I6T	BMX_ENST00000463891.1_Intron|BMX_ENST00000342014.6_Missense_Mutation_p.I6T|BMX_ENST00000348343.6_Missense_Mutation_p.I6T			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	6	PH.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					ACAAAATCTATTCTAGAAGAA	0.294000													6	236					0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4544868	4544868	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:4544868C>G	ENST00000570836.1	-	2	175	c.79G>C	c.(79-81)Gtc>Ctc	p.V27L	ALOX15_ENST00000293761.3_Missense_Mutation_p.V27L|ALOX15_ENST00000545513.1_Missense_Mutation_p.V49L|ALOX15_ENST00000574640.1_Missense_Mutation_p.V27L			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	27	PLAT.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	TGCTGGCCGACCAGCCACAGC	0.687000													36	152					0	0	1	0	0
RNF207	388591	broad.mit.edu	37	1	6279452	6279452	+	Silent	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:6279452G>A	ENST00000377939.4	+	18	2017	c.1890G>A	c.(1888-1890)agG>agA	p.R630R	RNF207_ENST00000377948.2_3'UTR	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	630						intracellular	zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CCACATGGAGGGAACACCCGA	0.532000													29	98					0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38564781	38564781	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:38564781G>C	ENST00000423485.1	-	11	1463	c.1305C>G	c.(1303-1305)atC>atG	p.I435M		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	435					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GAATTCCCTTGATTCTATTAT	0.338000													9	249					0	0	1	0	0
GOLGA6L5	0	broad.mit.edu	37	15	85053142	85053142	+	RNA	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr15:85053142C>T	ENST00000414190.2	-	0	310					NR_003246.2																						TTTTTCAATTCCTTGACCCGC	0.413000													22	49					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43836817	43836817	+	Silent	SNP	A	A	G	rs17850164		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr20:43836817A>G	ENST00000372781.3	+	2	936	c.879A>G	c.(877-879)acA>acG	p.T293T	SEMG1_ENST00000244069.6_Intron	NM_003007.3	NP_002998.1			semenogelin I									p.T293T(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CTTCAAGTACAGAAGAAAGAC	0.383000													7	303					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53945909	53945909	+	RNA	SNP	T	T	C	rs28727441	by1000genomes	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:53945909T>C	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACCCTGACTCTGCCTGAGGCC	0.562000													5	190					0	0	1	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68699089	68699089	+	Silent	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr4:68699089G>A	ENST00000283916.6	-	7	623	c.525C>T	c.(523-525)gcC>gcT	p.A175A	TMPRSS11D_ENST00000545541.1_Silent_p.A58A|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_5'UTR	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	175					proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGTCTGGACCGGCCCCACATT	0.463000													22	694					0	0	1	0	0
MAP2K3	5606	broad.mit.edu	37	17	21208417	21208417	+	Missense_Mutation	SNP	G	G	A	rs150613942	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:21208417G>A	ENST00000342679.4	+	9	1000	c.751G>A	c.(751-753)Gtc>Atc	p.V251I	MAP2K3_ENST00000361818.5_Missense_Mutation_p.V222I|MAP2K3_ENST00000316920.6_Missense_Mutation_p.V222I	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	251	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V255I(1)							COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CAAGTCCGACGTCTGGAGCCT	0.637000													21	539					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	237					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41559185	41559185	+	Splice_Site	SNP	C	C	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr21:41559185C>A	ENST00000400454.1	-	14	3129	c.2650_splice	c.e14-1	p.E884_splice		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	884					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGTCTGGGGGCTCTGTGCCAT	0.483000													4	129					3.59834e-05	3.69875e-05	1	1	0
MYH13	8735	broad.mit.edu	37	17	10248866	10248866	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:10248866C>T	ENST00000418404.3	-	13	1494	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	MYH13_ENST00000570743.1_Missense_Mutation_p.R444H|MYH13_ENST00000252172.4_Missense_Mutation_p.R444H			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	444	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTGGTTGATGCGGGTGACCAT	0.522000													6	723					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651648	121651648	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr7:121651648G>A	ENST00000393386.2	+	12	2959	c.2548G>A	c.(2548-2550)Gag>Aag	p.E850K	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	850					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.E850K(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTCAGCTACCGAGAGTGATAA	0.478000													5	480					0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37653909	37653909	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr20:37653909C>G	ENST00000252011.3	+	18	1741	c.1708C>G	c.(1708-1710)Ctg>Gtg	p.L570V	DHX35_ENST00000373325.2_Missense_Mutation_p.L570V|DHX35_ENST00000373323.4_Missense_Mutation_p.L539V	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	570						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GGAACATTTCCTGAATTACAA	0.418000													183	781					0	0	1	0	0
LHX8	431707	broad.mit.edu	37	1	75622617	75622617	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:75622617G>A	ENST00000294638.5	+	9	1514	c.850G>A	c.(850-852)Gtc>Atc	p.V284I	LHX8_ENST00000356261.3_Missense_Mutation_p.V274I	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	284						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CAAGAAACACGTCAGTCCTAA	0.502000													23	707					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46979145	46979145	+	Silent	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr4:46979145C>T	ENST00000264318.3	-	5	1492	c.510G>A	c.(508-510)gcG>gcA	p.A170A		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	170					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGGGACACTCCGCACTTATGG	0.343000													33	183					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112605307	112605307	+	Silent	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:112605307G>A	ENST00000550722.1	-	72	12305	c.11910C>T	c.(11908-11910)taC>taT	p.Y3970Y	HECTD4_ENST00000377560.5_Silent_p.Y3944Y|HECTD4_ENST00000430131.2_Silent_p.Y3694Y	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GCTCCTCCCCGTAGGTGATGG	0.647000													4	159					0	0	1	0	0
DNPEP	23549	broad.mit.edu	37	2	220239025	220239025	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:220239025A>C	ENST00000273075.4	-	15	1667	c.1447T>G	c.(1447-1449)Tta>Gta	p.L483V	DNPEP_ENST00000373972.1_Missense_Mutation_p.L408V|DNPEP_ENST00000490371.1_5'UTR|DNPEP_ENST00000523282.1_Missense_Mutation_p.L491V	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	473					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	CAATCCACTAAGAGATTATGG	0.473000													50	256					0	0	1	0	0
WDR37	22884	broad.mit.edu	37	10	1149626	1149626	+	Missense_Mutation	SNP	C	C	A	rs150728900		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr10:1149626C>A	ENST00000358220.1	+	10	955	c.811C>A	c.(811-813)Cgc>Agc	p.R271S	WDR37_ENST00000263150.4_Missense_Mutation_p.R271S			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	271										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		CCCCACCATCCGCGTCCCACT	0.622000													52	241					1.27102e-15	1.36357e-15	1	1	0
ANPEP	290	broad.mit.edu	37	15	90334315	90334315	+	Silent	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr15:90334315G>A	ENST00000300060.6	-	19	2851	c.2538C>T	c.(2536-2538)agC>agT	p.S846S		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	846	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TCAGGGTGTAGCTCAGGTACC	0.532000													13	363					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40578077	40578077	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr21:40578077G>A	ENST00000342449.3	-	37	4399	c.4321C>T	c.(4321-4323)Cgg>Tgg	p.R1441W	BRWD1_ENST00000380800.3_Missense_Mutation_p.R1441W|BRWD1_ENST00000333229.2_Missense_Mutation_p.R1441W	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CAATTTTGCCGTTGCTTGAAC	0.328000													141	659					0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	67006841	67006841	+	Silent	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr16:67006841C>T	ENST00000303334.4	+	13	1676	c.1605C>T	c.(1603-1605)gcC>gcT	p.A535A	CES3_ENST00000543856.1_Silent_p.A174A|CES3_ENST00000394037.1_Silent_p.A532A	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	535						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TGCCACGGGCCGGACAGAAGT	0.582000													18	366					0	0	1	0	0
LRCH1	23143	broad.mit.edu	37	13	47266683	47266683	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr13:47266683G>T	ENST00000311191.6	+	8	1256	c.1027G>T	c.(1027-1029)Gac>Tac	p.D343Y	LRCH1_ENST00000389798.3_Missense_Mutation_p.D343Y|LRCH1_ENST00000389797.3_Missense_Mutation_p.D343Y	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	343										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TTCTGACGAAGACACTGTTAG	0.418000													113	468					2.91849e-64	3.22494e-64	1	1	0
TGFBR2	7048	broad.mit.edu	37	3	30732957	30732957	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr3:30732957G>T	ENST00000295754.5	+	7	1952	c.1570G>T	c.(1570-1572)Gac>Tac	p.D524Y	TGFBR2_ENST00000359013.4_Missense_Mutation_p.D549Y	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	524	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.D524N(1)|p.D524Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CTGGGACCACGACCCAGAGGC	0.607000													105	171					1.43872e-54	1.58188e-54	1	1	0
ABCA4	24	broad.mit.edu	37	1	94497517	94497517	+	Silent	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:94497517C>T	ENST00000370225.3	-	27	4031	c.3945G>A	c.(3943-3945)caG>caA	p.Q1315Q		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1315					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CATTGGAGTCCTGGGGTGTCT	0.632000													19	383					0	0	1	0	0
DAW1	164781	broad.mit.edu	37	2	228762908	228762908	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:228762908G>A	ENST00000373666.2	+	6	1087	c.451G>A	c.(451-453)Gcc>Acc	p.A151T	DAW1_ENST00000309931.2_Missense_Mutation_p.A151T|DAW1_ENST00000545118.1_Missense_Mutation_p.A136T					dynein assembly factor with WDR repeat domains 1																		TGACAAAATCGCCACTGGGTC	0.303000													48	269					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186275982	186275982	+	Silent	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:186275982C>T	ENST00000445192.2	+	7	1176	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367485.4_Silent_p.T284T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	377	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGGAGC	0.637000													9	568					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70152481	70152481	+	Silent	SNP	A	A	G	rs141618560		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr4:70152481A>G	ENST00000335568.5	+	3	884	c.882A>G	c.(880-882)gaA>gaG	p.E294E	UGT2B28_ENST00000511240.1_Silent_p.E294E	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	294					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.E294E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AAATGGAGGAATTTGTACAGA	0.393000													5	448					0	0	1	0	0
PARVA	55742	broad.mit.edu	37	11	12534985	12534985	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:12534985G>T	ENST00000538608.1	+	9	853	c.717G>T	c.(715-717)ttG>ttT	p.L239F	PARVA_ENST00000539723.1_Intron|PARVA_ENST00000550549.1_Intron|PARVA_ENST00000334956.8_Intron			Q9NVD7	PARVA_HUMAN	parvin, alpha	187					cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		CCTGCAGCTTGCGAGCTTCCT	0.542000													11	200					0.010729	0.0107778	1	1	0
FRG1B	0	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													9	576					0	0	1	0	0
NT5C2	22978	broad.mit.edu	37	10	104934648	104934648	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr10:104934648G>A	ENST00000343289.5	-	2	155	c.68C>T	c.(67-69)gCc>gTc	p.A23V	NT5C2_ENST00000404739.3_Missense_Mutation_p.A23V|NT5C2_ENST00000369857.4_Intron|NT5C2_ENST00000470299.1_Missense_Mutation_p.A23V	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	23					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	CTTTTTCAGGGCATGCTTATC	0.378000													7	804					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22661206	22661206	+	RNA	SNP	T	T	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr22:22661206T>C	ENST00000426066.1	+	0	298					NR_027293.1																						AGCTGAATCATGCAGAATTTG	0.408000													6	210					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7023334	7023334	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr18:7023334C>T	ENST00000389658.3	-	19	2623	c.2530G>A	c.(2530-2532)Gaa>Aaa	p.E844K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	844	Laminin EGF-like 7.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACAAGATTCGCCAGGCACT	0.532000													49	170					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			12	145					0	0	1	0	0
IGHV1OR15-9	0	broad.mit.edu	37	15	20170029	20170029	+	RNA	SNP	C	C	T	rs144252881	by1000genomes	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr15:20170029C>T	ENST00000338912.5	-	0	242																											CCTGGAACTTCTGTGCATAGC	0.547000													7	638					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7401414	7401414	+	Missense_Mutation	SNP	G	G	A	rs141769858	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:7401414G>A	ENST00000322644.6	+	8	1619	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	POLR2A_ENST00000572844.1_Missense_Mutation_p.R407H	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	407					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GAACTAGTGCGCAGGGGGAAC	0.517000													5	339					0	0	1	0	0
RP11-114H24.7	0	broad.mit.edu	37	15	78211517	78211517	+	RNA	SNP	C	C	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557000													7	636					0	0	1	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77334298	77334298	+	Silent	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:77334298G>A	ENST00000477717.1	+	2	367	c.132G>A	c.(130-132)caG>caA	p.Q44Q	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	44	Poly-Gln.				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						agcagcagcagcaacagcagc	0.711000													4	120					0	0	1	0	0
DNAJC4	3338	broad.mit.edu	37	11	63999972	63999972	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:63999972G>A	ENST00000321685.3	+	4	716	c.251G>A	c.(250-252)cGt>cAt	p.R84H	DNAJC4_ENST00000321460.5_Missense_Mutation_p.R84H|RP11-783K16.14_ENST00000539963.1_RNA|RP11-783K16.14_ENST00000534988.1_RNA|DNAJC4_ENST00000355040.4_Intron	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4	84	J.				protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding			endometrium(1)|lung(1)|prostate(1)	3						GAGGCATACCGTGTGCTCAGC	0.632000													7	179					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178762794	178762794	+	Silent	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:178762794G>A	ENST00000286063.5	-	4	1610	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	PDE11A_ENST00000449286.2_Silent_p.I73I|PDE11A_ENST00000409504.1_Silent_p.I73I|PDE11A_ENST00000358450.4_Silent_p.I181I|PDE11A_ENST00000497003.1_5'UTR	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	431	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.I431I(2)|p.I181I(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CTGGTGATTCGATGTCCTCTA	0.348000									Primary Pigmented Nodular Adrenocortical Disease, Familial				92	337					0	0	1	0	0
USP42	84132	broad.mit.edu	37	7	6185257	6185257	+	Silent	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr7:6185257C>T	ENST00000306177.5	+	10	1259	c.1101C>T	c.(1099-1101)tgC>tgT	p.C367C		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	367					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		GTTTTAATTGCCATGCTGGCC	0.423000													4	154					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94493239	94493239	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:94493239G>A	ENST00000375708.3	-	7	1334	c.1136C>T	c.(1135-1137)aCg>aTg	p.T379M	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.T239M	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	379	Kringle.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TTTATTCTGCGTAAAGCACCA	0.527000													6	464					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			8	197					0	0	1	0	0
PRSS3P2	0	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A	rs143538588	by1000genomes	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3																						GGTCTGCAATGGACAGCTTCA	0.493000													10	257					0	0	1	0	0
AC005562.1	0	broad.mit.edu	37	17	28961033	28961033	+	RNA	SNP	T	T	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:28961033T>G	ENST00000417404.1	+	0	1291				SMURF2P1_ENST00000578265.1_RNA|LRRC37BP1_ENST00000412831.1_RNA																							AGTTCCAGGATATGACTATAA	0.264000													5	196					0	0	1	0	0
TPCN1	53373	broad.mit.edu	37	12	113711435	113711435	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:113711435G>A	ENST00000550785.1	+	11	1289	c.1120G>A	c.(1120-1122)Gtg>Atg	p.V374M	TPCN1_ENST00000335509.6_Missense_Mutation_p.V302M|TPCN1_ENST00000392569.4_Missense_Mutation_p.V234M|TPCN1_ENST00000541517.1_Missense_Mutation_p.V374M	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	302						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CTTCTTCATCGTGTACCTCTC	0.557000													116	606					0	0	1	0	0
NAB2	4665	broad.mit.edu	37	12	57485457	57485457	+	Silent	SNP	T	T	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:57485457T>C	ENST00000300131.3	+	2	1011	c.633T>C	c.(631-633)ccT>ccC	p.P211P	NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Silent_p.P211P|NAB2_ENST00000342556.6_Silent_p.P211P	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	211					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	p.P211P(3)		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						TCTCCCCCCCTGCAGGGGGAG	0.711000													8	110					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282031	152282031	+	Silent	SNP	G	G	A	rs145158439	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:152282031G>A	ENST00000368799.1	-	3	5366	c.5331C>T	c.(5329-5331)tcC>tcT	p.S1777S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1777	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			GTCCATGGGCGGACTCAGACT	0.607000									Ichthyosis				9	1175					0	0	1	0	0
IGHV1-58	0	broad.mit.edu	37	14	107078513	107078513	+	RNA	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr14:107078513C>T	ENST00000390628.2	-	0	271																											CTGCCAACGACGATCCATCCT	0.527000													88	329					0	0	1	0	0
S100A8	6279	broad.mit.edu	37	1	153362970	153362970	+	Silent	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:153362970G>A	ENST00000368733.3	-	2	211	c.42C>T	c.(40-42)gaC>gaT	p.D14D	S100A8_ENST00000368732.1_Silent_p.D14D|S100A8_ENST00000477801.1_5'UTR	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	14	EF-hand 1.				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTGGTAGACGTCGATGATAG	0.507000													11	899					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33464075	33464075	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:33464075C>T	ENST00000379471.2	-	22	2951	c.2864G>A	c.(2863-2865)cGc>cAc	p.R955H	NOL6_ENST00000455041.2_Missense_Mutation_p.R903H|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	955					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	p.R955H(1)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGAGTTTTTGCGGTCTTGGGG	0.567000													6	567					0	0	1	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52149092	52149092	+	Missense_Mutation	SNP	C	C	T	rs111981406	by1000genomes	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:52149092C>T	ENST00000360844.6	-	3	684	c.643G>A	c.(643-645)Gtg>Atg	p.V215M	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	215	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	p.V215M(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGGCGTTTCACCTGACAGGTG	0.647000													5	239					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175041	207175041	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:207175041A>G	ENST00000374423.3	+	5	6175	c.5789A>G	c.(5788-5790)aAg>aGg	p.K1930R		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1930							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CCTAAGCAAAAGGGGCGTGTG	0.428000													4	336					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227659834	227659834	+	Silent	SNP	A	A	G	rs71889337		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:227659834A>G	ENST00000305123.4	-	1	4641	c.3621T>C	c.(3619-3621)ccT>ccC	p.P1207P	IRS1_ENST00000498335.1_5'UTR	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1207	Pro-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGGTTGATGAGGGGGTGGGG	0.582000													8	184					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34286109	34286109	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:34286109C>T	ENST00000373381.4	-	8	1336	c.1160G>A	c.(1159-1161)gGc>gAc	p.G387D		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	347	Sushi 2.					integral to membrane|plasma membrane	protein binding			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)				TTCGGGTATGCCAGGGTCTGG	0.448000													7	838					0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33517490	33517490	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:33517490G>T	ENST00000254260.3	-	3	269	c.234C>A	c.(232-234)agC>agA	p.S78R	RHPN2_ENST00000400226.4_5'UTR	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	78					signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					AGTTGACGAAGCTCAGCTCCA	0.562000													9	837					6.72482e-11	7.14513e-11	1	1	0
ELF3	1999	broad.mit.edu	37	1	201981145	201981145	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:201981145G>A	ENST00000359651.3	+	2	3416	c.224G>A	c.(223-225)tGg>tAg	p.W75*	ELF3_ENST00000367283.3_Nonsense_Mutation_p.W75*|ELF3_ENST00000367284.5_Nonsense_Mutation_p.W75*|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000495848.1_3'UTR			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	75	PNT.				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GTTCTGGACTGGATCAGCTAC	0.577000													121	612					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70535555	70535555	+	Silent	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr13:70535555G>A	ENST00000377844.4	-	3	1461	c.702C>T	c.(700-702)tcC>tcT	p.S234S	KLHL1_ENST00000545028.1_Silent_p.S41S	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	234	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.S234S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CAAAATAGTCGGAGACTGAAC	0.453000													29	202					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111970268	111970268	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:111970268G>A	ENST00000374566.3	-	18	2331	c.1814C>T	c.(1813-1815)gCg>gTg	p.A605V		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	605						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACATGATCCGCAACAGGGGA	0.423000													5	533					0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77705082	77705082	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:77705082G>A	ENST00000328313.5	+	1	402	c.181G>A	c.(181-183)Ggg>Agg	p.G61R		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	61					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCCGAGACGGGGTGAAGGC	0.647000													4	126					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95515048	95515048	+	RNA	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:95515048C>T	ENST00000432432.2	-	0	609					NR_040113.1																						TGGGGTATTACTGTCCTACAA	0.323000													6	835					0	0	1	0	0
PCDHA9	0	broad.mit.edu	37	5	140230003	140230003	+	Silent	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:140230003C>T	ENST00000378122.3	+	1	2647	c.1923C>T	c.(1921-1923)gaC>gaT	p.D641D	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Silent_p.D641D|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGAAACGGACGCACCGCGCC	0.682000													53	320					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	by1000genomes	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:45128742T>G	ENST00000575173.1	-	0	418																											TAATGATTTTTATTATACTTT	0.328000													5	425					0	0	1	0	0
ARNTL2	56938	broad.mit.edu	37	12	27533278	27533278	+	Missense_Mutation	SNP	G	G	A	rs149871988		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:27533278G>A	ENST00000544915.1	+	4	542	c.323G>A	c.(322-324)cGt>cAt	p.R108H	ARNTL2_ENST00000261178.5_Missense_Mutation_p.R94H|ARNTL2_ENST00000542388.1_Missense_Mutation_p.R57H|ARNTL2_ENST00000546179.1_Missense_Mutation_p.R105H|ARNTL2_ENST00000311001.5_Missense_Mutation_p.R128H|ARNTL2_ENST00000266503.5_Missense_Mutation_p.R142H|ARNTL2_ENST00000395901.2_Missense_Mutation_p.R105H	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	142					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					CCCATGGCGCGTAAACTGGAC	0.418000													5	444					0	0	1	0	0
UBASH3B	84959	broad.mit.edu	37	11	122659916	122659916	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:122659916G>A	ENST00000284273.5	+	6	1255	c.880G>A	c.(880-882)Ggt>Agt	p.G294S		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	294	SH3.					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CACCAGCGAGGGTTGGATCTA	0.532000													192	816					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107084691	107084691	+	Silent	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:107084691G>A	ENST00000409886.3	-	1	141	c.54C>T	c.(52-54)tcC>tcT	p.S18S	RGPD3_ENST00000304514.7_Silent_p.S18S	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	18					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GCGACGGGGCGGAGCCCTGCA	0.721000													5	70					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532000			T	MLL	ALL								7	221					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1256208	1256208	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr16:1256208G>A	ENST00000348261.5	+	12	2956	c.2708G>A	c.(2707-2709)cGc>cAc	p.R903H	CACNA1H_ENST00000358590.4_Missense_Mutation_p.R903H|CACNA1H_ENST00000565831.1_Missense_Mutation_p.R903H	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	903					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GCCCTGCGGCGCCAGCTCGTG	0.632000													9	38					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50538027	50538027	+	Silent	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr22:50538027C>T	ENST00000262794.5	+	3	521	c.438C>T	c.(436-438)tgC>tgT	p.C146C	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.C146C|MOV10L1_ENST00000545383.1_Silent_p.C146C|MOV10L1_ENST00000540615.1_Silent_p.C126C|MOV10L1_ENST00000475190.1_3'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	146					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGAGTGTGTGCGAAGGTATGC	0.512000													47	229					0	0	1	0	0
PCDHA9	0	broad.mit.edu	37	5	140229874	140229874	+	Silent	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:140229874C>T	ENST00000378122.3	+	1	2518	c.1794C>T	c.(1792-1794)gaC>gaT	p.D598D	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Silent_p.D598D|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCAGTGGACGCCGACTCGG	0.672000													76	311					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:3427759C>T	ENST00000529482.1	+	0	876																											TGTCTGCACACGTCCTGCAGT	0.612000													4	184					0	0	1	0	0
NOC4L	79050	broad.mit.edu	37	12	132635870	132635870	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:132635870C>T	ENST00000330579.1	+	11	1071	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C	NOC4L_ENST00000538784.1_5'UTR|NOC4L_ENST00000535343.1_3'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	344					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CGTCAAGTACCGCGCCCGCTT	0.652000													99	483					0	0	1	0	0
T	6862	broad.mit.edu	37	6	166574388	166574388	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr6:166574388C>A	ENST00000296946.2	-	8	1439	c.971G>T	c.(970-972)gGa>gTa	p.G324V	T_ENST00000366871.3_Missense_Mutation_p.G266V	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	324					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GGCAGGCATTCCAAGGCTGGA	0.522000									Chordoma, Familial Clustering of				9	312					1.76689e-08	1.85945e-08	1	1	0
DIO3	1735	broad.mit.edu	37	14	102028329	102028329	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr14:102028329G>A	ENST00000510508.4	+	1	642	c.496G>A	c.(496-498)Ggc>Agc	p.G166S	DIO3_ENST00000359323.3_Missense_Mutation_p.G140S			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	140					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TCTCAATTTCGGCAGCTGCAC	0.627000													13	237					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	66878827	66878827	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr13:66878827G>A	ENST00000544246.1	-	5	4365	c.3674C>T	c.(3673-3675)gCa>gTa	p.A1225V	PCDH9_ENST00000377865.2_Missense_Mutation_p.A1225V|PCDH9_ENST00000328454.5_Missense_Mutation_p.A1191V|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000456367.1_Missense_Mutation_p.A1191V	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1225					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A1225E(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AGCACCTCCTGCTTGCTTATA	0.438000													59	220					0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	236617	236617	+	Silent	SNP	G	G	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:236617G>T	ENST00000264932.6	+	10	1450	c.1335G>T	c.(1333-1335)tcG>tcT	p.S445S	SDHA_ENST00000510361.1_Silent_p.S397S|SDHA_ENST00000504309.1_Silent_p.S445S	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	445					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	p.S445S(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CCTGTGCCTCGGTACATGGTG	0.597000									Familial Paragangliomas				5	350					1.23904e-05	1.27957e-05	1	1	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													7	314					0	0	1	0	0
DHX58	79132	broad.mit.edu	37	17	40263826	40263826	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:40263826C>T	ENST00000251642.3	-	3	307	c.85G>A	c.(85-87)Ggg>Agg	p.G29R		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	29	Helicase ATP-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CGGGTCTTCCCGGCACCCGTG	0.592000													6	477					0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152382863	152382863	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:152382863G>A	ENST00000271835.3	-	3	757	c.695C>T	c.(694-696)aCt>aTt	p.T232I	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	232	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGGTCTGAGTTCCAGATCC	0.572000													186	812					0	0	1	0	0
LRCH3	84859	broad.mit.edu	37	3	197544071	197544071	+	Silent	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr3:197544071G>A	ENST00000438796.2	+	3	476	c.432G>A	c.(430-432)ccG>ccA	p.P144P	LRCH3_ENST00000441090.2_Intron|LRCH3_ENST00000425562.2_Silent_p.P144P|LRCH3_ENST00000414675.2_Silent_p.P144P|LRCH3_ENST00000334859.4_Silent_p.P144P			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	144						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		CAACATTGCCGGTACACTTGT	0.378000													5	512					0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38327854	38327854	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr22:38327854T>C	ENST00000215957.6	+	10	2056	c.1930T>C	c.(1930-1932)Tcc>Ccc	p.S644P	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	644	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					ACCTGCAGCGTCCCCAGCCAC	0.582000													8	459					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44071946	44071948	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:44071946_44071948delGCG	ENST00000359947.4	+	20	3859_3861	c.3519_3521delGCG	c.(3517-3522)cag>ca	p.QR1173del	PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1173					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGAGGAGCAGCGGCGGCGGCGG	0.631													13	532	---	---	---	---					
RP11-435B5.5	0	broad.mit.edu	37	1	143391935	143391936	+	RNA	INS	-	-	TG			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:143391935_143391936insTG	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							ATATATATATATAAAGAGATTG	0.252													22	35	---	---	---	---					
TCHH	7062	broad.mit.edu	37	1	152082957	152082959	+	In_Frame_Del	DEL	CTC	CTC	-	rs143222885	by1000genomes	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:152082957_152082959delCTC	ENST00000368804.1	-	2	2733_2735	c.2734_2736delGAG	c.(2734-2736)del	p.E912del		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	912	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCTGTAGCTCCTCCTCCTCC	0.586													10	1077	---	---	---	---					
CCDC181	57821	broad.mit.edu	37	1	169366580	169366580	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:169366580delT	ENST00000545005.1	-	6	1769	c.1262delA	c.(1261-1263)agfs	p.K421fs	CCDC181_ENST00000367805.3_Frame_Shift_Del_p.K421fs|CCDC181_ENST00000367806.3_Frame_Shift_Del_p.K422fs					coiled-coil domain containing 181																		CTCTTCGTGCTTTTTTTTAAG	0.363													8	263	---	---	---	---					
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:181680102_181680103delAG	ENST00000526775.1	+	8	1233_1234	c.1068_1069delAG	c.(1066-1071)aaagfs	p.KE356fs	CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	356					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTTGCCAAAGAGAGAGAGAG	0.510													19	441	---	---	---	---					
RYR2	6262	broad.mit.edu	37	1	237969493	237969494	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:237969493_237969494insT	ENST00000366574.2	+	99	14525_14526	c.14208_14209insT	c.(14206-14211)aattttfs	p.NF4736fs	RYR2_ENST00000360064.6_Frame_Shift_Ins_p.NF4742fs|RYR2_ENST00000542537.1_Frame_Shift_Ins_p.NF4720fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4736					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACTATAACAACTTTTTTTTTGC	0.401													7	227	---	---	---	---					
PLEK	5341	broad.mit.edu	37	2	68622834	68622834	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:68622834delC	ENST00000234313.7	+	9	1118	c.939delC	c.(937-939)aafs	p.N313fs		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	313	PH 2.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AGGAAGAGAACCTTTTTGAGA	0.542													108	515	---	---	---	---					
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:96992793_96992795delGAG	ENST00000361124.4	+	1	859_861	c.448_450delGAG	c.(448-450)del	p.E155del	ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	147						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532													12	283	---	---	---	---					
SLC9A4	389015	broad.mit.edu	37	2	103149137	103149137	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:103149137delA	ENST00000295269.4	+	12	2844	c.2387delA	c.(2386-2388)cafs	p.Q796fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	796					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCTTTGCTCCAAAAAAAATAG	0.473													13	171	---	---	---	---					
IKZF2	22807	broad.mit.edu	37	2	214012392	214012393	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:214012392_214012393delAC	ENST00000442445.1	-	3	253_254	c.196_197delGT	c.(196-198)cfs	p.V66fs	IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000342002.2_Intron|IKZF2_ENST00000413091.3_Intron|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000457361.1_Intron|IKZF2_ENST00000434687.1_Intron|IKZF2_ENST00000374319.4_Intron|IKZF2_ENST00000374327.4_Intron			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGCTGGAGAGACACACACACAC	0.401													9	328	---	---	---	---					
IRS1	3667	broad.mit.edu	37	2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:227660808_227660810delGCT	ENST00000305123.4	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)ccc>c	p.QP882del		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGCAGCAAGGgctgctgctgctg	0.626													10	298	---	---	---	---					
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:242738494_242738496delTCC	ENST00000192314.6	+	2	175_177	c.44_46delTCC	c.(43-48)atc>a	p.IL15del		NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	15					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCGGGTCATCCTCCTCCTCCT	0.631													9	397	---	---	---	---					
KAT2B	8850	broad.mit.edu	37	3	20113878	20113879	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr3:20113878_20113879insC	ENST00000263754.4	+	2	812_813	c.357_358insC	c.(355-360)acccccfs	p.TP119fs	KAT2B_ENST00000426228.1_3'UTR	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	119					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CCTCACCCACTCCCCCCAGAGC	0.450													7	691	---	---	---	---					
TMCC1	23023	broad.mit.edu	37	3	129546680	129546682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr3:129546680_129546682delGCA	ENST00000393238.3	-	3	880_882	c.540_542delTGC	c.(538-543)gca>gc	p.AA180del	TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	180						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGGTAGACATgcagcagcagcag	0.483													7	339	---	---	---	---					
LINC00969	0	broad.mit.edu	37	3	195400814	195400815	+	RNA	INS	-	-	TT			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr3:195400814_195400815insTT	ENST00000445430.1	+	0	1410_1411																											ACCTGGTTGTCTGGTCAGGCAT	0.574													9	103	---	---	---	---					
PCDH10	57575	broad.mit.edu	37	4	134073569	134073571	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr4:134073569_134073571delCTG	ENST00000264360.4	+	1	3100_3102	c.2274_2276delCTG	c.(2272-2277)ctc>ct	p.LC758del		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	758	Cys-rich.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTGCTGCCTCTGCTGCTGCTGC	0.581													7	239	---	---	---	---					
IRX4	50805	broad.mit.edu	37	5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)ggg>g	p.EG228del	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del|IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685													10	197	---	---	---	---					
ZFR	51663	broad.mit.edu	37	5	32419951	32419953	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:32419951_32419953delGGT	ENST00000265069.8	-	3	495_497	c.393_395delACC	c.(391-396)ccc>cc	p.PP131del		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	131	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AGTAGCTGGGGGTGGTGGTGGTG	0.483													9	861	---	---	---	---					
GTF2H2B	0	broad.mit.edu	37	5	69730714	69730715	+	RNA	INS	-	-	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:69730714_69730715insT	ENST00000513202.1	+	0	753					NR_033417.1																						CTATGAAGGTGTTTTTTTTTCC	0.322													10	308	---	---	---	---					
TDRD6	221400	broad.mit.edu	37	6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A	rs145334816		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr6:46660414_46660415insA	ENST00000544460.1	+	1	4803_4804	c.4549_4550insA	c.(4549-4551)aaafs	p.K1517fs	TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351													9	288	---	---	---	---					
C6orf165	154313	broad.mit.edu	37	6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr6:88144700delA	ENST00000507897.1	+	11	1506	c.1423delA	c.(1423-1425)aafs	p.K476fs	C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	476										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269													7	429	---	---	---	---					
RP11-244K5.8	0	broad.mit.edu	37	6	150225646	150225649	+	RNA	DEL	CAAA	CAAA	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr6:150225646_150225649delCAAA	ENST00000606915.1	+	0	889				RP11-244K5.1_ENST00000446954.1_RNA|RP11-244K5.1_ENST00000605899.1_RNA	NR_045126.1																						TGTGGCAAATCAAACAGAGCTGGA	0.559													9	32	---	---	---	---					
ZDHHC4	55146	broad.mit.edu	37	7	6621848	6621849	+	Frame_Shift_Ins	INS	-	-	T	rs34551853		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr7:6621848_6621849insT	ENST00000396706.2	+	5	779_780	c.336_337insT	c.(334-339)ctttttfs	p.LF112fs	ZDHHC4_ENST00000396713.2_Frame_Shift_Ins_p.LF112fs|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396707.2_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000335965.6_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000396709.1_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000405731.3_Frame_Shift_Ins_p.LF112fs			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	112						integral to membrane	acyltransferase activity|zinc ion binding	p.F115fs*3(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		GTGTAAACCTGTTTTTTTTCAC	0.450													10	938	---	---	---	---					
PRSS3P2	0	broad.mit.edu	37	7	142481996	142481997	+	RNA	INS	-	-	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr7:142481996_142481997insC	ENST00000603901.1	+	0	591					NR_001296.3																						TCCCAAGGTGGGGGGCTGAGGA	0.564													14	114	---	---	---	---					
PRSS3P2	0	broad.mit.edu	37	7	142482025	142482025	+	RNA	DEL	A	A	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr7:142482025delA	ENST00000603901.1	+	0	591					NR_001296.3																						TGCAGTGCCCACATGGAGAAG	0.572													14	82	---	---	---	---					
WRN	7486	broad.mit.edu	37	8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaa>a	p.KE506del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	506					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.360			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				9	439	---	---	---	---					
KAT6A	7994	broad.mit.edu	37	8	41798420	41798422	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr8:41798420_41798422delCTC	ENST00000396930.3	-	16	3520_3522	c.2977_2979delGAG	c.(2977-2979)del	p.E993del	KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del|KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	993	Poly-Glu.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GGCTTTCCGGCTCCTCCTCCTCC	0.567													9	700	---	---	---	---					
PCMTD1	115294	broad.mit.edu	37	8	52733063	52733063	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr8:52733063delT	ENST00000360540.5	-	7	1328	c.922delA	c.(922-924)tgfs	p.M308fs	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Frame_Shift_Del_p.M308fs|PCMTD1_ENST00000544451.1_Frame_Shift_Del_p.M232fs	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	308						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				tcctcttccattttttcatcc	0.373													14	359	---	---	---	---					
SULF1	23213	broad.mit.edu	37	8	70514026	70514026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr8:70514026delT	ENST00000260128.4	+	10	1740	c.1023delT	c.(1021-1023)ccfs	p.P341fs	SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	341					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTCGTGTGCCTTTTTTTATTC	0.408													8	1071	---	---	---	---					
MYC	4609	broad.mit.edu	37	8	128750605	128750607	+	In_Frame_Del	DEL	CAG	CAG	-	rs61752959	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr8:128750605_128750607delCAG	ENST00000377970.2	+	2	652_654	c.142_144delCAG	c.(142-144)del	p.Q52del	MYC_ENST00000259523.6_In_Frame_Del_p.Q37del|MYC_ENST00000524013.1_In_Frame_Del_p.Q51del	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	37					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Q33H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		GAACTTCTACCAGCAGCAGCAGC	0.611		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	304	---	---	---	---					
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr8:144511954_144511956delTGG	ENST00000333480.2	-	1	620_622	c.621_623delCCA	c.(619-624)cat>ca	p.HH207del	MAFA_ENST00000528185.1_5'UTR	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	207	His-rich.				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H208delH(3)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggt	0.744										HNSCC(29;0.082)			11	17	---	---	---	---					
AQP7	364	broad.mit.edu	37	9	33385689	33385690	+	Frame_Shift_Ins	INS	-	-	G	rs3215969	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:33385689_33385690insG	ENST00000537089.1	-	6	742_743	c.424_425insC	c.(424-426)catfs	p.H142fs	AQP7_ENST00000377425.4_Frame_Shift_Ins_p.H177fs|AQP7_ENST00000541274.1_Frame_Shift_Ins_p.P102fs|AQP7_ENST00000539936.1_Frame_Shift_Ins_p.H234fs			O14520	AQP7_HUMAN	aquaporin 7	234					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	p.R234fs*35(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GGTGAAGATGCGGGGGGGCAGG	0.579													7	707	---	---	---	---					
RGS3	5998	broad.mit.edu	37	9	116246504	116246506	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:116246504_116246506delCTT	ENST00000374140.2	+	7	821_823	c.612_614delCTT	c.(610-615)cac>ca	p.HF204del	RGS3_ENST00000317613.6_In_Frame_Del_p.HF92del|RGS3_ENST00000350696.5_In_Frame_Del_p.HF204del	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	204	C2.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCACGAGCACTTCTTCTTGTAA	0.473													13	408	---	---	---	---					
COL27A1	85301	broad.mit.edu	37	9	116918267	116918269	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:116918267_116918269delGCG	ENST00000356083.3	+	1	428_430	c.37_39delGCG	c.(37-39)del	p.A18del		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	18					cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ccgaggcacagcggcggcggcgg	0.768													8	125	---	---	---	---					
C9orf173	441476	broad.mit.edu	37	9	140146549	140146550	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:140146549_140146550insC	ENST00000388931.3	+	3	391_392	c.365_366insC	c.(364-366)cccfs	p.P122fs	C9orf173_ENST00000412566.1_Frame_Shift_Ins_p.P122fs	NM_001004353.3|NM_001256699.1|NM_001256700.1|NM_001256701.1	NP_001004353.2|NP_001243628.1|NP_001243629.1|NP_001243630.1	Q8N7X2	CI173_HUMAN	chromosome 9 open reading frame 173	122										kidney(1)|large_intestine(1)|lung(5)|pancreas(1)	8						TCCTCCCCACACCCCCACTACA	0.678													49	295	---	---	---	---					
ANKRD26	22852	broad.mit.edu	37	10	27324564	27324565	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr10:27324564_27324565insT	ENST00000376087.4	-	24	2979_2980	c.2814_2815insA	c.(2812-2817)aaaaaafs	p.KK938fs	ANKRD26_ENST00000436985.2_Frame_Shift_Ins_p.KK954fs|ANKRD26_ENST00000376070.3_Frame_Shift_Ins_p.KK495fs	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	937						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CATTTCTTTTCTTTTTCCTGGT	0.297													26	145	---	---	---	---					
ANK3	288	broad.mit.edu	37	10	61828745	61828747	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr10:61828745_61828747delGTG	ENST00000280772.1	-	37	12083_12085	c.11892_11894delCAC	c.(11890-11895)act>ac	p.TT3964del	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3964	Thr-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ggtggtggcagtggtggtggtgg	0.498													7	471	---	---	---	---					
CUEDC2	79004	broad.mit.edu	37	10	104184037	104184039	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr10:104184037_104184039delGCA	ENST00000369937.4	-	5	538_540	c.393_395delTGC	c.(391-396)gca>gc	p.AA131del	CUEDC2_ENST00000465409.1_5'UTR	NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	131						cytoplasm|nucleus	protein binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TTGGGTGTCTGCAGCAGCAGCAG	0.581													10	548	---	---	---	---					
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr10:125528165_125528167delCAG	ENST00000241305.3	-	9	1328_1330	c.1174_1176delCTG	c.(1174-1176)del	p.L392del	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	392	Poly-Leu.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626													9	839	---	---	---	---					
OR10A5	144124	broad.mit.edu	37	11	6867223	6867225	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:6867223_6867225delTTC	ENST00000299454.4	+	1	341_343	c.310_312delTTC	c.(310-312)del	p.F108del	OR10A5_ENST00000379831.2_In_Frame_Del_p.F112del			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCAGATGTATTTCTTCTTCTTCT	0.517													7	596	---	---	---	---					
NAV2	89797	broad.mit.edu	37	11	19901475	19901477	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:19901475_19901477delAGC	ENST00000396085.1	+	5	933_935	c.572_574delAGC	c.(571-576)aag>a	p.KQ191del	NAV2_ENST00000349880.4_In_Frame_Del_p.KQ191del|NAV2_ENST00000360655.4_In_Frame_Del_p.KQ127del|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000540292.1_In_Frame_Del_p.KQ122del|NAV2_ENST00000396087.3_In_Frame_Del_p.KQ191del|NAV2_ENST00000527559.2_In_Frame_Del_p.KQ120del	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	191	CH.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCCGATACAagcagcagcagca	0.611													9	509	---	---	---	---					
KBTBD4	55709	broad.mit.edu	37	11	47599139	47599139	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:47599139delA	ENST00000533290.1	-	1	1202	c.488delT	c.(487-489)tgfs	p.L163fs	KBTBD4_ENST00000526005.1_Frame_Shift_Del_p.L138fs|KBTBD4_ENST00000525720.1_Frame_Shift_Del_p.L187fs|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.L154fs|KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.L138fs			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	138	BACK.									NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						TGTGCGGGCCAAAAACCGAGA	0.517													7	932	---	---	---	---					
FAU	2197	broad.mit.edu	37	11	64888248	64888250	+	In_Frame_Del	DEL	TCT	TCT	-	rs1065065		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:64888248_64888250delTCT	ENST00000529639.1	-	5	696_698	c.305_307delAGA	c.(304-309)aca>a	p.KT102del	FAU_ENST00000529259.1_3'UTR|FAU_ENST00000525297.1_In_Frame_Del_p.KT67del|FAU_ENST00000531743.1_In_Frame_Del_p.KT102del|FAU_ENST00000279259.3_In_Frame_Del_p.ED83del|FAU_ENST00000527548.1_In_Frame_Del_p.KT102del	NM_001997.4	NP_001988.1	P35544	UBIM_HUMAN	Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed	0										NS(3)|kidney(1)|large_intestine(2)	6						GCCCGACCTGTCTTCTTCTTCTT	0.542													10	728	---	---	---	---					
EXPH5	23086	broad.mit.edu	37	11	108382677	108382678	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:108382677_108382678insG	ENST00000265843.4	-	6	3666_3667	c.3556_3557insC	c.(3556-3558)agafs	p.R1186fs	EXPH5_ENST00000428840.1_Frame_Shift_Ins_p.R1110fs|EXPH5_ENST00000443411.1_Frame_Shift_Ins_p.R998fs|EXPH5_ENST00000525344.1_Frame_Shift_Ins_p.R1179fs	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1186					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGTGTATTCTTGGAAGTTTTCC	0.416													91	487	---	---	---	---					
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:108788635_108788637delTGA	ENST00000526794.1	+	17	2372_2374	c.2340_2342delTGA	c.(2338-2343)agt>ag	p.SD780del	DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	780							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.355			T	NUP98	AML*								11	358	---	---	---	---					
DDX6	1656	broad.mit.edu	37	11	118629613	118629614	+	Splice_Site	INS	-	-	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:118629613_118629614insG	ENST00000264018.4	-	9	1170		c.e9-2		DDX6_ENST00000526070.2_Splice_Site|DDX6_ENST00000534980.1_Splice_Site	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL								11	683	---	---	---	---					
SCAF11	9169	broad.mit.edu	37	12	46320707	46320708	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:46320707_46320708delTC	ENST00000465950.1	-	1	3040_3041	c.1831_1832delGA	c.(1831-1833)afs	p.E611fs	SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	926					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCTCCTTTCTCTCTCTCTC	0.446													12	868	---	---	---	---					
MBD6	0	broad.mit.edu	37	12	57919654	57919666	+	Frame_Shift_Del	DEL	GGGGCCCCTGGGA	GGGGCCCCTGGGA	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:57919654_57919666delGGGGCCCCTGGGA	ENST00000355673.3	+	6	1259_1271	c.903_915delGGGGCCCCTGGGA	c.(901-915)ctfs	p.LGPLG301fs	MBD6_ENST00000431731.2_Frame_Shift_Del_p.LGPLG301fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	301	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCCTGGTCCTGGGGCCCCTGGGAGGGGCCCCCA	0.695													30	276	---	---	---	---					
TMBIM4	51643	broad.mit.edu	37	12	66531936	66531937	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:66531936_66531937insA	ENST00000358230.3	-	7	640_641	c.520_521insT	c.(520-522)tagfs	p.*174fs	TMBIM4_ENST00000542724.1_Frame_Shift_Ins_p.*143fs|TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000398033.4_Frame_Shift_Ins_p.S159fs|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000286424.7_Frame_Shift_Ins_p.*221fs	NM_016056.2	NP_057140.2	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	174						integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		TATCTCACTATAAAAAAAAAAC	0.351													10	228	---	---	---	---					
GCN1L1	10985	broad.mit.edu	37	12	120595737	120595739	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:120595737_120595739delCTC	ENST00000300648.6	-	26	3013_3015	c.3001_3003delGAG	c.(3001-3003)del	p.E1001del		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1001					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGCCATCCACTCCTCCTCCTCC	0.631													7	322	---	---	---	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:122812690_122812691insT	ENST00000358808.2	-	16	3173_3174	c.3019_3020insA	c.(3019-3021)ccafs	p.P1007fs	CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													7	671	---	---	---	---					
TPTE2P1	0	broad.mit.edu	37	13	25541678	25541679	+	RNA	INS	-	-	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr13:25541678_25541679insT	ENST00000429698.1	-	0	282																											GTTGAtttttcttttttttgag	0.391													7	19	---	---	---	---					
HSPH1	10808	broad.mit.edu	37	13	31715381	31715382	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr13:31715381_31715382insT	ENST00000320027.5	-	13	2075_2076	c.1731_1732insA	c.(1729-1734)aattgafs	p.N*577fs	HSPH1_ENST00000380405.4_Frame_Shift_Ins_p.N*533fs|HSPH1_ENST00000429785.2_Frame_Shift_Ins_p.N*396fs|HSPH1_ENST00000445273.2_Frame_Shift_Ins_p.N*579fs|HSPH1_ENST00000380406.5_Frame_Shift_Ins_p.N*536fs	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	577					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		GGCTGGTCAACTTTTTTTTCAT	0.376													7	495	---	---	---	---					
PDS5B	23047	broad.mit.edu	37	13	33344888	33344888	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr13:33344888delA	ENST00000315596.10	+	33	4347	c.4161delA	c.(4159-4161)ccfs	p.P1387fs		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1387					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	p.N1390fs*4(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CATCACAACCAAAAAAAAATG	0.338													7	92	---	---	---	---					
TSC22D1	8848	broad.mit.edu	37	13	45148706	45148708	+	In_Frame_Del	DEL	TGC	TGC	-	rs112613609		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr13:45148706_45148708delTGC	ENST00000458659.2	-	1	1993_1995	c.1503_1505delGCA	c.(1501-1506)caa>ca	p.QQ507del	TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ507del	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	507	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ttgttgttgttgctgctgctgct	0.507													13	461	---	---	---	---					
SLITRK5	26050	broad.mit.edu	37	13	88329794	88329796	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr13:88329794_88329796delCGG	ENST00000325089.6	+	2	2370_2372	c.2151_2153delCGG	c.(2149-2154)tac>ta	p.YG717del	SLITRK5_ENST00000400028.3_In_Frame_Del_p.YG476del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	717						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACAGCGTGTACGGCGGCGGCGGC	0.645													8	343	---	---	---	---					
ELMSAN1	91748	broad.mit.edu	37	14	74205954	74205956	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr14:74205954_74205956delTGC	ENST00000286523.5	-	2	1538_1540	c.756_758delGCA	c.(754-759)caa>ca	p.QQ252del	ELMSAN1_ENST00000394071.2_In_Frame_Del_p.QQ252del	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		ctgctgtggttgctgctgctgct	0.645													7	148	---	---	---	---					
GPR65	0	broad.mit.edu	37	14	88477554	88477555	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr14:88477554_88477555insT	ENST00000267549.3	+	2	921_922	c.363_364insT	c.(361-366)aattttfs	p.NF121fs	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	121					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						ACCCTTTGAAGTTTTTTTTCCT	0.426													10	1054	---	---	---	---					
CNGB1	1258	broad.mit.edu	37	16	57983275	57983277	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr16:57983275_57983277delTCC	ENST00000564448.1	-	14	1143_1145	c.1083_1085delGGA	c.(1081-1086)gaa>ga	p.EE363del	CNGB1_ENST00000251102.8_In_Frame_Del_p.EE369del			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	369	Poly-Glu.				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ctcctcctcttcctcctcctcct	0.586													9	214	---	---	---	---					
CTRL	1506	broad.mit.edu	37	16	67963919	67963919	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr16:67963919delT	ENST00000574481.1	-	7	1274	c.713delA	c.(712-714)acfs	p.N238fs		NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	238	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CACATTGCAGTTTTTGGTGCC	0.552													12	556	---	---	---	---					
CHRNB1	1140	broad.mit.edu	37	17	7357666	7357668	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:7357666_7357668delCTG	ENST00000306071.2	+	8	938_940	c.871_873delCTG	c.(871-873)del	p.L294del	CHRNB1_ENST00000576360.1_Intron|CHRNB1_ENST00000536404.2_In_Frame_Del_p.L222del	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	294					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				TACTGTGTTCCTGCTGCTGCTGG	0.498													7	721	---	---	---	---					
WRAP53	55135	broad.mit.edu	37	17	7606722	7606722	+	Frame_Shift_Del	DEL	C	C	-	rs7640	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:7606722delC	ENST00000316024.5	+	10	3913	c.1565delC	c.(1564-1566)ggfs	p.A522fs	WRAP53_ENST00000431639.2_Frame_Shift_Del_p.A522fs|WRAP53_ENST00000457584.2_Frame_Shift_Del_p.A522fs|WRAP53_ENST00000396463.2_Frame_Shift_Del_p.A522fs|WRAP53_ENST00000534050.1_Frame_Shift_Del_p.A489fs			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	522			A -> G (in dbSNP:rs7640).		positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding	p.A522G(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						TGTGGGGGGGCGCCAGACTCC	0.582													8	237	---	---	---	---					
MED9	55090	broad.mit.edu	37	17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:17394705_17394707delCAG	ENST00000268711.3	+	2	393_395	c.337_339delCAG	c.(337-339)del	p.Q117del		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	117					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581													8	567	---	---	---	---					
SUPT6H	6830	broad.mit.edu	37	17	27027202	27027204	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:27027202_27027204delAGC	ENST00000314616.6	+	34	4856_4858	c.4573_4575delAGC	c.(4573-4575)del	p.S1528del	SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1528	Poly-Ser.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CATCACCCCTAGCAGCAGCAGCA	0.537													7	1188	---	---	---	---					
LRRC37A11P	0	broad.mit.edu	37	17	37209433	37209433	+	RNA	DEL	T	T	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:37209433delT	ENST00000425901.2	+	0	3555					NR_033753.2																						CAAATCTCtatttttttttta	0.358													3	4	---	---	---	---					
COIL	8161	broad.mit.edu	37	17	55028016	55028016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:55028016delT	ENST00000240316.4	-	2	621	c.587delA	c.(586-588)agfs	p.K196fs		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	196	Lys-rich (basic).					Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ATTCTTAGCCTTTTTTTTATA	0.393													7	636	---	---	---	---					
TNRC6C	57690	broad.mit.edu	37	17	76046980	76046980	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:76046980delA	ENST00000335749.4	+	3	2406	c.1837delA	c.(1837-1839)aafs	p.K614fs	TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	614	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGGGATGGGAAAAAAAATGG	0.522													8	454	---	---	---	---					
ROCK1P1	0	broad.mit.edu	37	18	112519	112520	+	RNA	INS	-	-	A	rs140158594	by1000genomes	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr18:112519_112520insA	ENST00000576266.1	+	0	153_154																											CCAGCTCCCCCGGGGCCTCCGT	0.530													7	78	---	---	---	---					
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr18:12986927_12986929delTCC	ENST00000399892.2	+	9	1238_1240	c.1137_1139delTCC	c.(1135-1140)ctt>ct	p.LP379del	RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000262124.11_3'UTR	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	0					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522													9	265	---	---	---	---					
LMAN1	3998	broad.mit.edu	37	18	57013193	57013194	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr18:57013193_57013194insT	ENST00000251047.5	-	8	1629_1630	c.912_913insA	c.(910-915)aaaggafs	p.G305fs		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	305					blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TGGAATTCCTCTTTTTTTTTAT	0.455													9	448	---	---	---	---					
DENND1C	79958	broad.mit.edu	37	19	6477251	6477251	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:6477251delG	ENST00000381480.2	-	8	603	c.491delC	c.(490-492)ctfs	p.P164fs	DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Frame_Shift_Del_p.P120fs	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	164	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CCCCCGGGTAGGGGGGGGGAT	0.672													7	230	---	---	---	---					
CTC-513N18.6	0	broad.mit.edu	37	19	20634038	20634039	+	RNA	DEL	TG	TG	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:20634038_20634039delTG	ENST00000598131.1	+	0	160																											TTAGTAAAAATGTGTGTGTGTG	0.401													18	211	---	---	---	---					
SBSN	374897	broad.mit.edu	37	19	36019046	36019047	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:36019046_36019047delCT	ENST00000452271.2	-	1	165_166	c.137_138delAG	c.(136-138)gfs	p.E46fs	SBSN_ENST00000518157.1_Frame_Shift_Del_p.E46fs	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	46						extracellular region		p.E46fs*27(1)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTTGCCCACCTCTCTCTCTGC	0.579													7	871	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43428981	43428982	+	RNA	INS	-	-	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:43428981_43428982insG	ENST00000406070.2	-	0	1340					NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				tccagtctacagtggataataa	0.406													16	176	---	---	---	---					
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:47935681_47935683delTCC	ENST00000236877.6	-	9	2525_2527	c.2130_2132delGGA	c.(2128-2133)gac>ga	p.ED710del	SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	710					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616													8	506	---	---	---	---					
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr20:56099187delT	ENST00000426658.2	-	1	736	c.75delA	c.(73-75)aafs	p.K25fs	CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	25					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502													10	1758	---	---	---	---					
PMEPA1	56937	broad.mit.edu	37	20	56227348	56227349	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr20:56227348_56227349insG	ENST00000341744.3	-	4	943_944	c.624_625insC	c.(622-627)ccgcagfs	p.Q209fs	PMEPA1_ENST00000395814.1_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000395816.3_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000265626.4_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000347215.4_Frame_Shift_Ins_p.Q174fs	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	209					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GAGTTACTGCTGGGGGGGCAGG	0.683													52	261	---	---	---	---					
HMGXB4	10042	broad.mit.edu	37	22	35661544	35661544	+	Frame_Shift_Del	DEL	A	A	-	rs76572304		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr22:35661544delA	ENST00000216106.5	+	5	1291	c.1163delA	c.(1162-1164)gafs	p.E388fs	HMGXB4_ENST00000444518.2_Frame_Shift_Del_p.E279fs	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	388					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCATAGTGAaaaaaaaaag	0.493													10	263	---	---	---	---					
MYH9	4627	broad.mit.edu	37	22	36689419	36689421	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr22:36689419_36689421delCCT	ENST00000216181.5	-	30	4279_4281	c.4049_4051delAGG	c.(4048-4053)gcc>g	p.EA1350del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1350				E -> EE (in Ref. 7).	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGTGCTTGGCCTCCTCCTCCTC	0.650			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				7	383	---	---	---	---					
MYH9	4627	broad.mit.edu	37	22	36696948	36696950	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr22:36696948_36696950delCTC	ENST00000216181.5	-	22	3015_3017	c.2785_2787delGAG	c.(2785-2787)del	p.E929del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	929					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTGGCAGCGCTCCTCCTCCTCC	0.665			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				10	572	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610573	42610575	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr22:42610573_42610575delAGG	ENST00000359486.3	-	1	873_875	c.737_739delCCT	c.(736-741)ttc>t	p.SF246del	TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	246	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGAAGGGAaggaggaggagga	0.507													8	385	---	---	---	---					
ARFGAP3	26286	broad.mit.edu	37	22	43213780	43213780	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr22:43213780delT	ENST00000263245.5	-	10	1115	c.896delA	c.(895-897)atfs	p.N299fs	ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	299					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGAGTCAACATTTTTTTTGCC	0.363													9	698	---	---	---	---					
BHLHB9	80823	broad.mit.edu	37	X	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)del	p.E171del	BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.					cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488													15	525	---	---	---	---					
