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
GSE1	23199	broad.mit.edu	37	16	85690012	85690012	+	Silent	SNP	T	T	C			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr16:85690012T>C	ENST00000253458.7	+	7	1229	c.1053T>C	c.(1051-1053)cgT>cgC	p.R351R	GSE1_ENST00000405402.2_Silent_p.R247R|GSE1_ENST00000393243.1_Silent_p.R278R	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein																		agcgtgagcgtgaggctgacc	0.667000													4	27					0	0	1	0	0
HP	3240	broad.mit.edu	37	16	72090086	72090086	+	Missense_Mutation	SNP	T	T	C			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr16:72090086T>C	ENST00000355906.5	+	2	90	c.32T>C	c.(31-33)cTg>cCg	p.L11P	HP_ENST00000398131.2_Missense_Mutation_p.L11P|HP_ENST00000562526.1_Missense_Mutation_p.L11P|HPR_ENST00000356967.5_Intron|HP_ENST00000569639.1_Missense_Mutation_p.L11P|HP_ENST00000570083.1_Missense_Mutation_p.L11P|HP_ENST00000565574.1_Missense_Mutation_p.L11P	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	11					cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		ATTGCCCTCCTGCTCTGGGGA	0.547000													46	113					0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95616453	95616453	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr7:95616453G>T	ENST00000324972.6	+	9	1073	c.880G>T	c.(880-882)Gac>Tac	p.D294Y	DYNC1I1_ENST00000457059.1_Missense_Mutation_p.D277Y|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.D274Y|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.D277Y|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.D257Y|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.D257Y	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	294					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CACTTGTATGGACTGGTCCCT	0.428000													173	349					5.60145e-70	9.90733e-70	1	1	0
TMCC3	57458	broad.mit.edu	37	12	94975772	94975772	+	Silent	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr12:94975772G>T	ENST00000261226.4	-	2	752	c.621C>A	c.(619-621)gcC>gcA	p.A207A	TMCC3_ENST00000551457.1_Silent_p.A176A	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	207						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GGATCAGGTTGGCAAACTCTC	0.532000													82	93					7.09011e-46	1.11723e-45	1	1	0
DDX27	55661	broad.mit.edu	37	20	47841731	47841731	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr20:47841731C>G	ENST00000371764.4	+	6	697	c.688C>G	c.(688-690)Ctg>Gtg	p.L230V	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	230						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCGCCCTCTTCTGAAGGTAGC	0.428000													86	164					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84265907	84265907	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr6:84265907G>T	ENST00000428679.2	-	29	3282	c.2689C>A	c.(2689-2691)Cca>Aca	p.P897T	SNAP91_ENST00000195649.6_Missense_Mutation_p.P892T|SNAP91_ENST00000520213.1_Missense_Mutation_p.P590T|SNAP91_ENST00000369694.2_Missense_Mutation_p.P897T|SNAP91_ENST00000437520.1_Missense_Mutation_p.P590T|SNAP91_ENST00000520302.1_Missense_Mutation_p.P867T|SNAP91_ENST00000521485.1_Missense_Mutation_p.P892T|SNAP91_ENST00000439399.2_Missense_Mutation_p.P897T|SNAP91_ENST00000521743.1_Missense_Mutation_p.P897T			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	897	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TCCGCTAATGGGTCCTTTGCT	0.418000													4	1					0.00024832	0.000263523	1	1	0
OR6B1	135946	broad.mit.edu	37	7	143701707	143701707	+	Silent	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr7:143701707C>A	ENST00000408922.2	+	1	686	c.618C>A	c.(616-618)atC>atA	p.I206I		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I206I(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CACTGGTCATCTTCCTATTCC	0.458000													97	228					9.47799e-51	1.55967e-50	1	1	0
PDHA2	5161	broad.mit.edu	37	4	96761818	96761818	+	Missense_Mutation	SNP	G	G	C			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr4:96761818G>C	ENST00000295266.4	+	1	580	c.517G>C	c.(517-519)Gct>Cct	p.A173P		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	173					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CCCCCTGGGCGCTGGCATTGC	0.502000													58	80					0	0	1	0	0
PNO1	56902	broad.mit.edu	37	2	68388900	68388900	+	Splice_Site	SNP	T	T	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr2:68388900T>A	ENST00000263657.2	+	3	532		c.e3+2			NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)							nucleolus	RNA binding			endometrium(1)|large_intestine(1)|lung(2)	4						CAGGTGGAGGTGAGTAATTCC	0.353000													41	45					0	0	1	0	0
MDM1	56890	broad.mit.edu	37	12	68708812	68708812	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr12:68708812C>A	ENST00000303145.7	-	9	1501	c.1415G>T	c.(1414-1416)aGg>aTg	p.R472M	MDM1_ENST00000411698.2_Missense_Mutation_p.R437M|MDM1_ENST00000540418.1_Missense_Mutation_p.R192M	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	472						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		GCCCGTTTTCCTGTCCCCTTC	0.478000													229	244					7.28181e-124	1.31477e-123	1	1	0
FAM180A	389558	broad.mit.edu	37	7	135418867	135418867	+	Silent	SNP	T	T	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr7:135418867T>A	ENST00000338588.3	-	3	643	c.378A>T	c.(376-378)acA>acT	p.T126T	FAM180A_ENST00000415751.1_Silent_p.T126T	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	126						extracellular region				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						GGGTCAGCACTGTCCTTTCAA	0.607000													63	124					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237586395	237586395	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr1:237586395G>T	ENST00000366574.2	+	12	1169	c.852G>T	c.(850-852)tgG>tgT	p.W284C	RYR2_ENST00000542537.1_Missense_Mutation_p.W268C|RYR2_ENST00000360064.6_Missense_Mutation_p.W282C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	284					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)			TCATTAGGTGGAGTGGAAGCC	0.413000													75	263					6.14238e-36	9.285e-36	1	1	0
RABEP1	9135	broad.mit.edu	37	17	5280435	5280435	+	Missense_Mutation	SNP	T	T	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr17:5280435T>A	ENST00000262477.6	+	14	2274	c.2050T>A	c.(2050-2052)Tac>Aac	p.Y684N	RABEP1_ENST00000546142.2_Missense_Mutation_p.Y684N|RABEP1_ENST00000537505.1_Missense_Mutation_p.Y641N|RABEP1_ENST00000408982.2_Missense_Mutation_p.Y684N|RABEP1_ENST00000341923.6_Missense_Mutation_p.Y684N|NUP88_ENST00000573169.1_Intron	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	684					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GGTATTAAAATACCGTGAGGA	0.408000													10	307					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31286930	31286930	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr16:31286930C>A	ENST00000544665.3	+	9	990	c.919C>A	c.(919-921)Ccg>Acg	p.P307T	ITGAM_ENST00000287497.8_Missense_Mutation_p.P307T	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	307	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CGCATCCAAGCCGCCTCGTGA	0.517000													41	58					1.32136e-16	1.65967e-16	1	1	0
KRAS	3845	broad.mit.edu	37	12	25398262	25398262	+	Missense_Mutation	SNP	C	C	G	rs121913538		TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr12:25398262C>G	ENST00000311936.3	-	2	248	c.57G>C	c.(55-57)ttG>ttC	p.L19F	KRAS_ENST00000256078.4_Missense_Mutation_p.L19F|KRAS_ENST00000557334.1_Missense_Mutation_p.L19F|KRAS_ENST00000556131.1_Missense_Mutation_p.L19F	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	19					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.L19F(15)	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)			GCTGTATCGTCAAGGCACTCT	0.358000		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			18	14					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78647081	78647081	+	Silent	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr10:78647081C>A	ENST00000286627.5	-	27	4432	c.3480G>T	c.(3478-3480)cgG>cgT	p.R1160R	KCNMA1_ENST00000372443.1_Silent_p.R1187R|KCNMA1_ENST00000406533.3_Silent_p.R1222R|KCNMA1_ENST00000404771.3_Silent_p.R1218R|KCNMA1_ENST00000372440.1_Silent_p.R1160R|KCNMA1_ENST00000286628.8_Silent_p.R1218R|KCNMA1_ENST00000354353.5_Silent_p.R1221R|KCNMA1_ENST00000404857.1_Silent_p.R1201R	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1218					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TGGACTTGGGCCGGTTCTGTC	0.577000													136	241					8.44338e-69	1.47334e-68	1	1	0
PIK3CG	5294	broad.mit.edu	37	7	106524639	106524639	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr7:106524639G>T	ENST00000359195.3	+	9	3110	c.2800G>T	c.(2800-2802)Ggc>Tgc	p.G934C	PIK3CG_ENST00000496166.1_Missense_Mutation_p.G934C|PIK3CG_ENST00000440650.2_Missense_Mutation_p.G934C	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	934	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TTCCTGTGCAGGCTACTGTGT	0.368000													130	215					8.8899e-71	1.58313e-70	1	1	0
RP11-909M7.3	0	broad.mit.edu	37	14	101442834	101442834	+	RNA	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr14:101442834C>A	ENST00000554693.2	+	0	548				SNORD114-19_ENST00000363072.1_RNA																							ATAAAACTTGCTGGCATATGA	0.303000													33	150					4.34311e-12	5.1562e-12	1	1	0
INPP4B	8821	broad.mit.edu	37	4	143043280	143043280	+	Splice_Site	SNP	C	C	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr4:143043280C>T	ENST00000513000.1	-	22	2569		c.e22+1		INPP4B_ENST00000262992.4_Splice_Site|INPP4B_ENST00000508116.1_Splice_Site|INPP4B_ENST00000308502.4_Splice_Site|INPP4B_ENST00000509777.1_Splice_Site	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa						signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GCACTGCTTACCGTCTTCCTG	0.413000													53	55					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70477604	70477604	+	Nonsense_Mutation	SNP	A	A	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr1:70477604A>T	ENST00000310961.5	+	13	1448	c.1030A>T	c.(1030-1032)Aga>Tga	p.R344*	LRRC7_ENST00000035383.5_Nonsense_Mutation_p.R339*|LRRC7_ENST00000415775.2_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	339						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGAATTACCCAGAGAAGTGAG	0.338000													26	28					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189916108	189916108	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr2:189916108C>A	ENST00000374866.3	-	42	3143	c.2869G>T	c.(2869-2871)Gga>Tga	p.G957*		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	957					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAGCTGGTCCTCGATCTCCC	0.642000													41	70					1.47197e-15	1.82244e-15	1	1	0
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	T	G			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr1:155887393T>G	ENST00000368320.3	-	11	1362	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P			Q7Z7F0	K0907_HUMAN	KIAA0907	446	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567000													11	90					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34640690	34640690	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr15:34640690G>T	ENST00000537011.1	+	3	1003	c.621G>T	c.(619-621)tgG>tgT	p.W207C	NUTM1_ENST00000438749.3_Missense_Mutation_p.W197C|NUTM1_ENST00000333756.4_Missense_Mutation_p.W179C					NUT midline carcinoma, family member 1																		AAAAAGCTTGGCCAGGGCCAC	0.587000													30	29					2.12542e-12	2.5349e-12	1	1	0
NCS1	23413	broad.mit.edu	37	9	132985014	132985014	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr9:132985014G>T	ENST00000372398.3	+	5	479	c.393G>T	c.(391-393)atG>atT	p.M131I	NCS1_ENST00000458469.1_Missense_Mutation_p.M113I	NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN	neuronal calcium sensor 1	131	EF-hand 3.				negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding			large_intestine(1)|lung(4)|stomach(1)	6						TTTACCAGATGGTGGTGAGAA	0.552000													36	41					2.1956e-27	3.13657e-27	1	1	0
CDH23	64072	broad.mit.edu	37	10	73553354	73553354	+	Silent	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr10:73553354G>T	ENST00000224721.6	+	47	6689	c.6684G>T	c.(6682-6684)ctG>ctT	p.L2228L		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2223	Cadherin 21.			EFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVG IVAKDDTDRLVPNQEDAFAVNIN -> ASWEGQSHVTQAYE EAVGPPQPQVPDSTGDRHPLWGLGGFGQEHPWEGQILGGSS QAEPGLVWS (in Ref. 6; BAB61902).	calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTGATCGCCTGGTGCCCAACC	0.577000													13	52					1.49906e-05	1.62398e-05	1	1	0
STK11	6794	broad.mit.edu	37	19	1220578	1220578	+	Splice_Site	SNP	A	A	G			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr19:1220578A>G	ENST00000326873.7	+	5	1770		c.e5-1			NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11						anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(4)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACCGCCACAGGCACTGCAC	0.721000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			8	8					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25497957	25497957	+	Splice_Site	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr2:25497957C>A	ENST00000264709.3	-	6	830		c.e6-1		DNMT3A_ENST00000321117.5_Splice_Site	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha						regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCGGGAGCCCTAGGACAGAG	0.657000			"""Mis, F, N, S"""		AML								6	5					0.0215528	0.0218895	1	1	0
NUP205	23165	broad.mit.edu	37	7	135330953	135330953	+	Missense_Mutation	SNP	A	A	G			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr7:135330953A>G	ENST00000285968.6	+	42	5886	c.5860A>G	c.(5860-5862)Ata>Gta	p.I1954V		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1954					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TGGGCTGGCTATAGTGAGCCA	0.393000													40	73					0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18429756	18429756	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr10:18429756C>T	ENST00000324631.7	+	1	151	c.91C>T	c.(91-93)Ccc>Tcc	p.P31S	CACNB2_ENST00000352115.6_Missense_Mutation_p.P31S|CACNB2_ENST00000377328.1_Missense_Mutation_p.P31S|CACNB2_ENST00000467034.1_3'UTR	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	31					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GAACGTGGCTCCCGCGGGGGC	0.682000													6	12					0	0	1	0	0
PDCD1	5133	broad.mit.edu	37	2	242794798	242794798	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr2:242794798G>T	ENST00000334409.5	-	2	480	c.411C>A	c.(409-411)agC>agA	p.S137R		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	137	Ig-like V-type.				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		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;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-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;0.0219)		CTGCCCGCAGGCTCTCTTTGA	0.687000													14	53					4.93089e-13	5.96294e-13	1	1	0
NRXN1	9378	broad.mit.edu	37	2	51254727	51254727	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr2:51254727G>T	ENST00000404971.1	-	2	2024	c.685C>A	c.(685-687)Ctc>Atc	p.L229I	NRXN1_ENST00000406316.2_Missense_Mutation_p.L229I|NRXN1_ENST00000401669.2_Missense_Mutation_p.L229I|NRXN1_ENST00000406859.3_Missense_Mutation_p.L229I|NRXN1_ENST00000402717.3_Missense_Mutation_p.L229I|NRXN1_ENST00000405581.1_Missense_Mutation_p.L229I|NRXN1_ENST00000405472.3_Missense_Mutation_p.L229I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	229	EGF-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCTCCGTTGAGGCACACCCCG	0.716000													8	20					1.06961e-07	1.20389e-07	1	1	0
SEC24D	9871	broad.mit.edu	37	4	119727097	119727097	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr4:119727097C>T	ENST00000379735.5	-	7	1088	c.817G>A	c.(817-819)Gag>Aag	p.E273K	SEC24D_ENST00000280551.6_Missense_Mutation_p.E272K|SEC24D_ENST00000419654.2_5'UTR	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	272	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CTATCATTCTCAATCACCTGG	0.478000													43	42					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73748613	73748613	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr17:73748613C>T	ENST00000200181.3	+	32	4250	c.4063C>T	c.(4063-4065)Cgc>Tgc	p.R1355C	ITGB4_ENST00000449880.2_Missense_Mutation_p.R1355C|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000450894.3_Missense_Mutation_p.R1355C|ITGB4_ENST00000579662.1_Missense_Mutation_p.R1355C|ITGB4_ENST00000339591.3_Missense_Mutation_p.R1355C	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1355					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGACGTTCTACGCTCTCCATC	0.612000													162	108					0	0	1	0	0
SLC7A4	6545	broad.mit.edu	37	22	21384088	21384088	+	Missense_Mutation	SNP	A	A	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr22:21384088A>T	ENST00000382932.2	-	3	1602	c.1535T>A	c.(1534-1536)cTg>cAg	p.L512Q	SLC7A4_ENST00000403586.1_Missense_Mutation_p.L512Q	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	512					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CAGGAGCAGCAGGATGTAACC	0.562000													34	22					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11751088	11751088	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr2:11751088G>T	ENST00000381486.2	+	18	3241	c.2941G>T	c.(2941-2943)Gag>Tag	p.E981*	GREB1_ENST00000234142.5_Nonsense_Mutation_p.E981*	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	981						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGAGCACTTTGAGATCATCCT	0.687000													6	20					3.59834e-05	3.88202e-05	1	1	0
PCDHA5	56143	broad.mit.edu	37	5	140202447	140202447	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr5:140202447C>A	ENST00000529859.1	+	1	1087	c.1087C>A	c.(1087-1089)Cca>Aca	p.P363T	PCDHA5_ENST00000378126.3_Missense_Mutation_p.P363T|PCDHA5_ENST00000529619.1_Missense_Mutation_p.P363T|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGACGCTCCACTCAGCAC	0.527000													69	95					2.36135e-34	3.52846e-34	1	1	0
ZNF658	26149	broad.mit.edu	37	9	40772742	40772742	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr9:40772742G>A	ENST00000602553.1	-	5	2827	c.2533C>T	c.(2533-2535)Cag>Tag	p.Q845*	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Nonsense_Mutation_p.Q845*			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	845					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGAATTCTCTGATGTGCACAG	0.438000													59	77					0	0	1	0	0
OR2C1	4993	broad.mit.edu	37	16	3406351	3406351	+	Silent	SNP	C	C	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr16:3406351C>T	ENST00000304936.2	+	1	463	c.411C>T	c.(409-411)aaC>aaT	p.N137N		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCATCATGAACCCCCAGCTCT	0.617000													34	90					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99715950	99715950	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr11:99715950C>T	ENST00000524871.1	+	6	823	c.533C>T	c.(532-534)aCt>aTt	p.T178I	CNTN5_ENST00000527185.1_Missense_Mutation_p.T178I|CNTN5_ENST00000418526.2_Missense_Mutation_p.T104I|CNTN5_ENST00000528682.1_Missense_Mutation_p.T178I|CNTN5_ENST00000279463.3_Missense_Mutation_p.T178I	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	178	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.T178N(4)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GCAACCAACACTGTGGGGAGT	0.348000													76	67					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821826	5821826	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chrX:5821826C>A	ENST00000381095.3	-	5	1520	c.893G>T	c.(892-894)cGg>cTg	p.R298L	NLGN4X_ENST00000538097.1_Missense_Mutation_p.R298L|NLGN4X_ENST00000381092.1_Missense_Mutation_p.R298L|NLGN4X_ENST00000275857.6_Missense_Mutation_p.R298L|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R318L	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	298					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGCCAATATCCGAGTGTACTT	0.557000													25	37					8.58068e-18	1.08828e-17	1	1	0
SLC5A3	6526	broad.mit.edu	37	21	35467451	35467451	+	Translation_Start_Site	SNP	G	G	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr21:35467451G>A	ENST00000381151.3	+	0	466				MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TAAATAAAAAGTTGGACACTT	0.423000													75	113					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222788	140222788	+	Missense_Mutation	SNP	A	A	G	rs149174279		TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr5:140222788A>G	ENST00000531613.1	+	1	1882	c.1882A>G	c.(1882-1884)Acg>Gcg	p.T628A	PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.T628A|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGCTGTACACGGGCGAGAT	0.657000													4	57					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78213768	78213768	+	RNA	SNP	C	C	A	rs12904130	by1000genomes	TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr15:78213768C>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							GGCGGCCAGCCAGATCCTTGG	0.542000													5	135					0.00116845	0.00121034	1	1	0
LDLRAP1	26119	broad.mit.edu	37	1	25890245	25890245	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr1:25890245C>T	ENST00000374338.4	+	7	829	c.710C>T	c.(709-711)cCg>cTg	p.P237L	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	237					amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		GACGAGGTGCCGCGGCCACAA	0.627000													4	69					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061927	9061927	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr19:9061927C>A	ENST00000397910.4	-	3	25722	c.25519G>T	c.(25519-25521)Gag>Tag	p.E8507*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8509	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGGTACCCTCTGATGTAGCC	0.488000													141	124					2.93227e-69	5.15128e-69	1	1	0
CLSTN2	64084	broad.mit.edu	37	3	140275464	140275464	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr3:140275464C>A	ENST00000458420.3	+	11	1974	c.1784C>A	c.(1783-1785)aCg>aAg	p.T595K		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	595					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.T595M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CAGTTCCCAACGGCGGGTGTG	0.572000										HNSCC(16;0.037)			80	70					1.45872e-26	2.05009e-26	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129759897	129759897	+	Silent	SNP	T	T	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr6:129759897T>A	ENST00000421865.2	+	42	6124	c.6075T>A	c.(6073-6075)gcT>gcA	p.A2025A		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2025	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGTTATCAGCTATTCCAAATG	0.358000													55	52					0	0	1	0	0
ZNF185	7739	broad.mit.edu	37	X	152087526	152087526	+	Splice_Site	SNP	G	G	C			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chrX:152087526G>C	ENST00000535861.1	+	7	479		c.e7-1		ZNF185_ENST00000370270.1_Splice_Site|ZNF185_ENST00000318504.7_Splice_Site|ZNF185_ENST00000324823.6_Splice_Site|ZNF185_ENST00000370268.4_Splice_Site|ZNF185_ENST00000539731.1_Splice_Site|ZNF185_ENST00000449285.2_Splice_Site|ZNF185_ENST00000318529.8_Splice_Site	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)							cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTCTCTTAGGGCACCCTAC	0.557000													10	10					0	0	1	0	0
PROCR	10544	broad.mit.edu	37	20	33762727	33762727	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr20:33762727G>T	ENST00000216968.4	+	2	375	c.293G>T	c.(292-294)cGc>cTc	p.R98L	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	98					antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity	p.R98L(2)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	GGCCTCGTGCGCCTGGTGCAC	0.726000													6	22					0.0215528	0.0218895	1	1	0
DCAF12L1	139170	broad.mit.edu	37	X	125685341	125685341	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chrX:125685341C>A	ENST00000371126.1	-	1	1493	c.1251G>T	c.(1249-1251)tgG>tgT	p.W417C		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	417										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGTAATTCACCCAGAAATCAT	0.567000													101	69					6.23761e-45	9.76976e-45	1	1	0
MAP1A	4130	broad.mit.edu	37	15	43814037	43814037	+	Silent	SNP	C	C	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr15:43814037C>T	ENST00000382031.1	+	5	1111	c.1080C>T	c.(1078-1080)gaC>gaT	p.D360D	MAP1A_ENST00000399453.1_Silent_p.D122D|MAP1A_ENST00000300231.5_Silent_p.D122D			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	122	Lys-rich (basic).					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GTTACAGCGACTGGGTGAAGA	0.552000													20	107					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103124593	103124593	+	Silent	SNP	C	C	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr2:103124593C>T	ENST00000295269.4	+	5	1711	c.1254C>T	c.(1252-1254)atC>atT	p.I418I		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	418					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						CCTTCTCCATCAAGGACCAGT	0.433000													44	184					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55025718	55025718	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr20:55025718C>A	ENST00000371336.3	+	4	826	c.625C>A	c.(625-627)Cca>Aca	p.P209T	CASS4_ENST00000434344.1_Missense_Mutation_p.P209T|CASS4_ENST00000360314.3_Missense_Mutation_p.P209T	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	209					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						ACTCCATCCCCCAGACAGCCA	0.498000													10	56					0.000978159	0.00101729	1	1	0
STYXL1	51657	broad.mit.edu	37	7	75630311	75630311	+	Missense_Mutation	SNP	T	T	C			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr7:75630311T>C	ENST00000451157.1	-	8	876	c.707A>G	c.(706-708)cAt>cGt	p.H236R	STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000248600.1_Missense_Mutation_p.H236R|STYXL1_ENST00000340062.5_Missense_Mutation_p.H140R|STYXL1_ENST00000431581.1_Missense_Mutation_p.H236R|STYXL1_ENST00000359697.3_Missense_Mutation_p.H236R			Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	236	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						GCCAAGGTGATGGTGAATTTC	0.562000													59	67					0	0	1	0	0
CCDC89	220388	broad.mit.edu	37	11	85396657	85396657	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr11:85396657C>T	ENST00000316398.3	-	1	663	c.517G>A	c.(517-519)Gag>Aag	p.E173K		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	173						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ACTTTCGCCTCCTCATCCTTC	0.547000													114	105					0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33490586	33490586	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr19:33490586G>T	ENST00000254260.3	-	10	1166	c.1131C>A	c.(1129-1131)caC>caA	p.H377Q	RHPN2_ENST00000400226.4_Missense_Mutation_p.H226Q	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	377	BRO1.				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)					ACTTCTCCTGGTGGTCCAGAT	0.572000													9	83					1.49906e-05	1.62398e-05	1	1	0
OR10A2	341276	broad.mit.edu	37	11	6891778	6891778	+	Missense_Mutation	SNP	T	T	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr11:6891778T>A	ENST00000307322.4	+	1	855	c.793T>A	c.(793-795)Tac>Aac	p.Y265N		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATCATTGTCCTACACTGTTAT	0.458000													148	125					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138451499	138451499	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr4:138451499G>T	ENST00000344876.4	-	1	2130	c.1744C>A	c.(1744-1746)Cgt>Agt	p.R582S	PCDH18_ENST00000412923.2_Missense_Mutation_p.R582S|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.R362S	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	582	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R582C(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTATTATTACGCAATGCAGGC	0.463000													96	298					2.46799e-47	3.93666e-47	1	1	0
DUSP27	92235	broad.mit.edu	37	1	167095767	167095767	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr1:167095767C>A	ENST00000361200.2	+	6	1565	c.1399C>A	c.(1399-1401)Cgc>Agc	p.R467S	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R467S|DUSP27_ENST00000271385.5_Missense_Mutation_p.R467S			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	467					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CAGGAGGCGCCGCGCAGACTC	0.652000													22	70					7.45023e-12	8.80481e-12	1	1	0
CLCN1	1180	broad.mit.edu	37	7	143047472	143047472	+	Missense_Mutation	SNP	C	C	A	rs146453561		TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr7:143047472C>A	ENST00000343257.2	+	21	2498	c.2411C>A	c.(2410-2412)gCc>gAc	p.A804D		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	804					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CAGATTGAGGCCTGGGAGCAG	0.557000													21	49					1.01871e-10	1.18243e-10	1	1	0
ZNF526	116115	broad.mit.edu	37	19	42728858	42728858	+	Silent	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr19:42728858G>T	ENST00000301215.3	+	3	528	c.303G>T	c.(301-303)gtG>gtT	p.V101V		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CGGAGCTGGTGCCGGGTGCTG	0.632000													85	50					1.75807e-36	2.67309e-36	1	1	0
PKD1L2	114780	broad.mit.edu	37	16	81194298	81194298	+	RNA	SNP	C	C	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr16:81194298C>T	ENST00000533478.1	-	0	1745				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGGAGCCACCATTGGTACGA	0.527000													17	31					0	0	1	0	0
RABGGTA	5875	broad.mit.edu	37	14	24736916	24736916	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr14:24736916C>A	ENST00000399409.3	-	13	1786	c.1303G>T	c.(1303-1305)Gtg>Ttg	p.V435L	RABGGTA_ENST00000216840.6_Missense_Mutation_p.V435L|RABGGTA_ENST00000560777.1_Missense_Mutation_p.V44L	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	435					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		ATCTTGAGCACGCTATTCTCC	0.612000													10	31					0.000673444	0.000703195	1	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885345	88885345	+	Silent	SNP	C	C	G			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr8:88885345C>G	ENST00000319675.3	-	1	951	c.855G>C	c.(853-855)ctG>ctC	p.L285L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	285										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CTGATGACACCAGGAATTGGC	0.498000													71	134					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141767205	141767205	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr7:141767205G>T	ENST00000475668.2	+	42	5038	c.4984G>T	c.(4984-4986)Gtc>Ttc	p.V1662F	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1662	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGCCTTCCTGGTCAGCCCTGT	0.587000													35	12					7.04047e-22	9.3873e-22	1	1	0
TRAPPC9	83696	broad.mit.edu	37	8	141297729	141297729	+	Silent	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr8:141297729C>A	ENST00000389328.4	-	13	2267	c.2253G>T	c.(2251-2253)acG>acT	p.T751T	TRAPPC9_ENST00000389327.3_Silent_p.T644T|TRAPPC9_ENST00000438773.2_Silent_p.T653T	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	653					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TCGTTCCAGTCGTCTGCGGGA	0.597000													48	132					5.2432e-18	6.78225e-18	1	1	0
SYNJ2	8871	broad.mit.edu	37	6	158454651	158454651	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr6:158454651G>A	ENST00000355585.4	+	4	725	c.650G>A	c.(649-651)cGc>cAc	p.R217H	SYNJ2_ENST00000367122.2_Missense_Mutation_p.R217H|SYNJ2_ENST00000449859.2_Missense_Mutation_p.R166H|SYNJ2_ENST00000367121.3_Missense_Mutation_p.R217H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	217	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ACAGGCACTCGCTTCCACACC	0.622000													47	40					0	0	1	0	0
MTSS1L	92154	broad.mit.edu	37	16	70698201	70698201	+	Silent	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr16:70698201C>A	ENST00000338779.6	-	15	1897	c.1623G>T	c.(1621-1623)ggG>ggT	p.G541G	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	541					filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						CGGTGGGCAGCCCAGCAGTGG	0.711000													5	41					0.014758	0.0151066	1	1	0
SCAF8	22828	broad.mit.edu	37	6	155123283	155123283	+	Splice_Site	SNP	T	T	C			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr6:155123283T>C	ENST00000367178.3	+	7	1359		c.e7+2		SCAF8_ENST00000367186.4_Splice_Site|SCAF8_ENST00000417268.1_Splice_Site	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8						mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TTTAACAAGGTAGAAATTAAA	0.333000													33	36					0	0	1	0	0
HELQ	113510	broad.mit.edu	37	4	84368014	84368014	+	Missense_Mutation	SNP	T	T	C			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr4:84368014T>C	ENST00000295488.3	-	4	1528	c.1366A>G	c.(1366-1368)Agt>Ggt	p.S456G	HELQ_ENST00000510985.1_Intron	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	456	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGACCCAGACTGTCAATTCTT	0.328000								Other identified genes with known or suspected DNA repair function					111	97					0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95439799	95439799	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr7:95439799C>G	ENST00000324972.6	+	3	397	c.204C>G	c.(202-204)atC>atG	p.I68M	DYNC1I1_ENST00000457059.1_Missense_Mutation_p.I68M|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.I68M|DYNC1I1_ENST00000413338.1_Missense_Mutation_p.I68M|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.I68M|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.I68M|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.I68M	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	68	Interaction with DCTN1 (By similarity).				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	p.I68I(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GCATTGGTATCTCACCGGAGC	0.458000													17	45					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78261710	78261710	+	Silent	SNP	C	C	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr17:78261710C>T	ENST00000582970.1	+	4	501	c.358C>T	c.(358-360)Ctg>Ttg	p.L120L	RNF213_ENST00000508628.2_Silent_p.L169L|RNF213_ENST00000456466.1_Silent_p.L120L|RNF213_ENST00000319921.4_Silent_p.L120L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	120										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCCCTGTCACCTGACTTTGCT	0.587000													18	4					0	0	1	0	0
DUOXA1	90527	broad.mit.edu	37	15	45413003	45413003	+	Splice_Site	SNP	C	C	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr15:45413003C>T	ENST00000558996.1	-	4	260	c.205_splice	c.e4-1	p.G69_splice	DUOXA1_ENST00000558422.1_Splice_Site_p.G69_splice|DUOXA1_ENST00000559014.1_Splice_Site_p.G114_splice|DUOXA1_ENST00000430224.2_Splice_Site_p.G69_splice|DUOXA1_ENST00000560572.1_Splice_Site_p.G114_splice|DUOXA1_ENST00000267803.4_Splice_Site_p.G114_splice	NM_001276267.1|NM_001276268.1	NP_001263196.1|NP_001263197.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	114					protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		CACGGGGGTCCCTAGGGCACA	0.592000													101	99					0	0	1	0	0
HPGD	3248	broad.mit.edu	37	4	175439152	175439152	+	Missense_Mutation	SNP	T	T	G			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr4:175439152T>G	ENST00000296522.6	-	3	740	c.294A>C	c.(292-294)aaA>aaC	p.K98N	HPGD_ENST00000541923.1_Intron|HPGD_ENST00000510901.1_5'UTR|HPGD_ENST00000542498.1_Missense_Mutation_p.K98N|HPGD_ENST00000504433.1_Missense_Mutation_p.K98N|HPGD_ENST00000296521.7_Missense_Mutation_p.K98N|HPGD_ENST00000422112.2_Intron	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	98					female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	NADH(DB00157)	TTTCCCAGTTTTTCTCATTAT	0.279000													10	35					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39430379	39430379	+	Missense_Mutation	SNP	A	A	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr13:39430379A>T	ENST00000280481.7	+	12	7258	c.7042A>T	c.(7042-7044)Ata>Tta	p.I2348L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2348					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGAAAATATGATAGCAGAGAT	0.408000													64	59					0	0	1	0	0
TRUB1	142940	broad.mit.edu	37	10	116698112	116698112	+	Missense_Mutation	SNP	A	A	C			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr10:116698112A>C	ENST00000298746.3	+	1	161	c.100A>C	c.(100-102)Acc>Ccc	p.T34P		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	34					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	p.T34P(1)		breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		AATGGCTGCGACCCCGTCAGC	0.637000													7	21					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33412037	33412037	+	Missense_Mutation	SNP	T	T	C			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr2:33412037T>C	ENST00000404816.2	+	6	1669	c.1316T>C	c.(1315-1317)gTg>gCg	p.V439A	LTBP1_ENST00000390003.4_Missense_Mutation_p.V113A|LTBP1_ENST00000404525.1_Missense_Mutation_p.V113A|LTBP1_ENST00000402934.1_Missense_Mutation_p.V113A|LTBP1_ENST00000407925.1_Missense_Mutation_p.V113A|LTBP1_ENST00000418533.2_Missense_Mutation_p.V113A|LTBP1_ENST00000354476.3_Missense_Mutation_p.V439A			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	439					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGTGCCAGCGTGCCTAAACTT	0.512000													37	53					0	0	1	0	0
SIAH1	6477	broad.mit.edu	37	16	48395996	48395996	+	Missense_Mutation	SNP	G	G	C			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr16:48395996G>C	ENST00000380006.2	-	1	1797	c.344C>G	c.(343-345)gCa>gGa	p.A115G	SIAH1_ENST00000356721.3_Missense_Mutation_p.A146G|SIAH1_ENST00000394725.2_Missense_Mutation_p.A115G			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	115	SBD.				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				TTCATGGTCTGCTTTTTCTGT	0.468000													46	66					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55110965	55110965	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr11:55110965G>T	ENST00000314721.2	+	1	339	c.289G>T	c.(289-291)Ggt>Tgt	p.G97C		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						AGCTTGCATGGGTCAGCTCTT	0.448000													171	172					4.01657e-63	6.96206e-63	1	1	0
SLC28A2	9153	broad.mit.edu	37	15	45545486	45545486	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr15:45545486G>T	ENST00000347644.3	+	2	138	c.73G>T	c.(73-75)Gag>Tag	p.E25*	CTD-2651B20.3_ENST00000559003.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	25					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		CCCGGGGCTGGAGCTCATGGT	0.517000													18	25					1.33834e-09	1.53968e-09	1	1	0
SYNE3	161176	broad.mit.edu	37	14	95942096	95942096	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr14:95942096C>G	ENST00000334258.5	-	1	77	c.63G>C	c.(61-63)aaG>aaC	p.K21N	SYNE3_ENST00000553340.1_Missense_Mutation_p.K21N|SYNE3_ENST00000557275.1_Missense_Mutation_p.K21N	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						CCTGCACAGCCTTCATCCATG	0.637000													6	26					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433530	40433530	+	Missense_Mutation	SNP	C	C	A	rs151019238		TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr19:40433530C>A	ENST00000221347.6	-	2	746	c.739G>T	c.(739-741)Gcc>Tcc	p.A247S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	247	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTGCCCCAGGCAGACGTGGGT	0.587000													63	50					1.19403e-26	1.69644e-26	1	1	0
CECR1	51816	broad.mit.edu	37	22	17680454	17680454	+	Missense_Mutation	SNP	T	T	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr22:17680454T>A	ENST00000330232.4	-	1	219	c.15A>T	c.(13-15)gaA>gaT	p.E5D	CECR1_ENST00000449907.2_Intron|CECR1_ENST00000262607.3_Intron|CECR1_ENST00000399839.1_Intron|CECR1_ENST00000399837.2_Intron	NM_177405.1	NP_803124.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	0					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CCCAGTTCCATTCCAGGGAAT	0.542000													39	40					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94069729	94069729	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr14:94069729C>A	ENST00000553484.1	+	26	3873	c.3719C>A	c.(3718-3720)gCg>gAg	p.A1240E	UNC79_ENST00000256339.4_Missense_Mutation_p.A1063E|UNC79_ENST00000555664.1_Missense_Mutation_p.A1240E|UNC79_ENST00000393151.2_Missense_Mutation_p.A1240E			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1240						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCCAAGAGGGCGCTCTCCCTC	0.493000													22	100					2.37509e-13	2.88563e-13	1	1	0
SRMS	6725	broad.mit.edu	37	20	62174823	62174823	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr20:62174823C>A	ENST00000217188.1	-	3	529	c.489G>T	c.(487-489)caG>caT	p.Q163H		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	163	SH2.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AGACCTTGGCCTGGGCCCGGA	0.642000													39	92					4.67007e-22	6.29128e-22	1	1	0
TUBB8P7	197331	broad.mit.edu	37	16	90161663	90161663	+	RNA	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr16:90161663C>A	ENST00000564451.1	+	0	1016				TUBB8P7_ENST00000567960.1_RNA																							TGCAGGGTTTCCAGCTGACCC	0.572000													32	77					7.53189e-24	1.03068e-23	1	1	0
GRIA4	2893	broad.mit.edu	37	11	105623773	105623773	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr11:105623773C>A	ENST00000393127.2	+	4	760	c.314C>A	c.(313-315)aCc>aAc	p.T105N	GRIA4_ENST00000530497.1_Missense_Mutation_p.T105N|GRIA4_ENST00000525187.1_Missense_Mutation_p.T105N|GRIA4_ENST00000282499.5_Missense_Mutation_p.T105N|GRIA4_ENST00000428631.2_Missense_Mutation_p.T105N|GRIA4_ENST00000393125.2_Missense_Mutation_p.T105N	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	105					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TCGGTACATACCTTGACCTCA	0.443000													78	56					1.35621e-51	2.26035e-51	1	1	0
SCAMP5	192683	broad.mit.edu	37	15	75310807	75310807	+	Silent	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr15:75310807G>T	ENST00000361900.6	+	7	651	c.444G>T	c.(442-444)gcG>gcT	p.A148A	SCAMP5_ENST00000568081.1_Silent_p.A81A|SCAMP5_ENST00000562212.1_Silent_p.A156A|SCAMP5_ENST00000545456.1_Silent_p.A77A|SCAMP5_ENST00000425597.3_Silent_p.A148A	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	148					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						TTGGCTCGGCGGTGGTGATGC	0.577000													148	131					9.82225e-59	1.66914e-58	1	1	0
KIAA0100	9703	broad.mit.edu	37	17	26942212	26942212	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr17:26942212C>A	ENST00000528896.2	-	39	6652	c.6578G>T	c.(6577-6579)gGa>gTa	p.G2193V	KIAA0100_ENST00000544884.1_Missense_Mutation_p.G2050V|SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.G2050V|SPAG5-AS1_ENST00000554154.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2193						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TTCTAGCTTTCCCCGGACCTC	0.488000													153	89					1.26091e-62	2.17111e-62	1	1	0
KRTAP21-1	337977	broad.mit.edu	37	21	32127584	32127584	+	Missense_Mutation	SNP	T	T	C			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr21:32127584T>C	ENST00000335093.3	-	1	162	c.113A>G	c.(112-114)tAt>tGt	p.Y38C		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	38						intermediate filament				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						cccacagccatacccacagcc	0.572000													128	264					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13659766	13659766	+	Missense_Mutation	SNP	T	T	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr3:13659766T>A	ENST00000404922.3	+	6	2039	c.1920T>A	c.(1918-1920)gaT>gaA	p.D640E	FBLN2_ENST00000535798.1_Missense_Mutation_p.D666E|FBLN2_ENST00000492059.1_Missense_Mutation_p.D640E|FBLN2_ENST00000295760.7_Missense_Mutation_p.D640E	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	640	EGF-like 1; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			TGCAGGACGATGGCCGCACTT	0.612000													37	38					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	41976690	41976690	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr1:41976690G>A	ENST00000372584.1	-	8	7664	c.6650C>T	c.(6649-6651)aCc>aTc	p.T2217I	HIVEP3_ENST00000372583.1_Missense_Mutation_p.T2218I|HIVEP3_ENST00000429157.2_Missense_Mutation_p.T2217I|HIVEP3_ENST00000247584.5_Missense_Mutation_p.T2218I|HIVEP3_ENST00000460604.1_5'UTR	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2218					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCAGGCTGCGGTGGGCCCTGG	0.701000													58	55					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87641149	87641149	+	Missense_Mutation	SNP	A	A	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr8:87641149A>T	ENST00000320005.5	-	12	1525	c.1478T>A	c.(1477-1479)cTa>cAa	p.L493Q		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	493					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATGCTTACCTAGCATTCTTTG	0.383000													100	246					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65367576	65367576	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr3:65367576C>G	ENST00000330909.8	-	17	2760	c.2761G>C	c.(2761-2763)Gtg>Ctg	p.V921L	MAGI1_ENST00000497477.2_Missense_Mutation_p.V893L|MAGI1_ENST00000483466.1_Missense_Mutation_p.V921L|MAGI1_ENST00000402939.2_Missense_Mutation_p.V893L	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	921					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTACGCCGCACCGTGAGATTG	0.478000													36	43					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125601968	125601968	+	Missense_Mutation	SNP	A	A	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr10:125601968A>T	ENST00000241305.3	-	4	704	c.550T>A	c.(550-552)Tgg>Agg	p.W184R	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	184	F5/8 type C.				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)		CCCGCGCACCACGCTCCGTCA	0.453000													20	76					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319358	21319358	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr17:21319358C>A	ENST00000583088.1	+	3	1599	c.704C>A	c.(703-705)cCg>cAg	p.P235Q	KCNJ12_ENST00000331718.5_Missense_Mutation_p.P235Q	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12									p.P235L(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CTCATCAAGCCGCGGGTCACC	0.637000										Prostate(3;0.18)			7	96					3.32936e-07	3.69929e-07	1	1	0
KCNMB1	3779	broad.mit.edu	37	5	169812417	169812417	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr5:169812417C>A	ENST00000274629.4	-	2	477	c.35G>T	c.(34-36)gGa>gTa	p.G12V	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron|KCNMB1_ENST00000521859.1_Missense_Mutation_p.G12V	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	12					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		TCGTGTCTCTCCCCGCTTCTG	0.542000													35	50					2.09667e-21	2.76717e-21	1	1	0
THSD4	79875	broad.mit.edu	37	15	72050253	72050253	+	Missense_Mutation	SNP	T	T	G			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr15:72050253T>G	ENST00000355327.3	+	15	2562	c.2428T>G	c.(2428-2430)Tgt>Ggt	p.C810G	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.C450G|THSD4_ENST00000261862.6_Missense_Mutation_p.C810G			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	810	TSP type-1 4.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CTCAGCGGAGTGTGGGGCCGG	0.617000													31	31					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101151278	101151278	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr9:101151278G>T	ENST00000259455.2	-	10	1846	c.1387C>A	c.(1387-1389)Cca>Aca	p.P463T		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	463					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TCTTTTGGTGGTTCGGATCCT	0.542000													58	60					9.53978e-28	1.37797e-27	1	1	0
ANKRD34B	340120	broad.mit.edu	37	5	79855420	79855420	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr5:79855420G>T	ENST00000338682.3	-	5	1091	c.419C>A	c.(418-420)gCt>gAt	p.A140D		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	140						cytoplasm|nucleus		p.A140D(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TGCCTTGCAAGCACTAAGAAG	0.423000													71	194					1.2582e-26	1.77789e-26	1	1	0
TMEM200A	114801	broad.mit.edu	37	6	130762280	130762280	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr6:130762280G>T	ENST00000392429.1	+	2	3091	c.713G>T	c.(712-714)aGt>aTt	p.S238I	TMEM200A_ENST00000296978.3_Missense_Mutation_p.S238I|TMEM200A_ENST00000545622.1_Missense_Mutation_p.S238I	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	238						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GAAGGTAAGAGTTCTGGGCAT	0.493000													50	74					1.51926e-22	2.0681e-22	1	1	0
STK36	27148	broad.mit.edu	37	2	219563696	219563696	+	Silent	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr2:219563696G>T	ENST00000295709.3	+	26	3708	c.3429G>T	c.(3427-3429)ctG>ctT	p.L1143L	STK36_ENST00000392106.2_Silent_p.L1122L|STK36_ENST00000392105.3_Silent_p.L1122L|STK36_ENST00000440309.1_Silent_p.L1143L	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	1143					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GCATGGCCCTGCGTGGGGCAC	0.617000													32	113					5.09552e-08	5.76015e-08	1	1	0
KEAP1	9817	broad.mit.edu	37	19	10610109	10610109	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr19:10610109G>A	ENST00000171111.5	-	2	1148	c.601C>T	c.(601-603)Cag>Tag	p.Q201*	KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Nonsense_Mutation_p.Q201*	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	201	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CGGGCACGCTGGTGCAACTCC	0.612000													19	18					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209797324	209797324	+	Silent	SNP	C	C	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr1:209797324C>T	ENST00000391911.1	-	14	2387	c.1998G>A	c.(1996-1998)caG>caA	p.Q666Q	LAMB3_ENST00000367030.3_Silent_p.Q666Q|LAMB3_ENST00000356082.4_Silent_p.Q666Q	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	666	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCAGATCCAGCTGCAGGCCCT	0.527000													47	166					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685270	125685270	+	Missense_Mutation	SNP	A	A	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chrX:125685270A>T	ENST00000371126.1	-	1	1564	c.1322T>A	c.(1321-1323)aTg>aAg	p.M441K		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	441										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AAAGAGCTTCATCTCAGGCCA	0.547000													122	56					0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7725441	7725441	+	Silent	SNP	C	C	G			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr4:7725441C>G	ENST00000507866.2	+	19	2551	c.2442C>G	c.(2440-2442)acC>acG	p.T814T	SORCS2_ENST00000329016.9_Silent_p.T642T	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	814	PKD.					integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TCCTGACTACCAAGTACCAGG	0.582000													97	200					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44073350	44073350	+	Silent	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr2:44073350C>A	ENST00000272286.2	+	3	312	c.222C>A	c.(220-222)ccC>ccA	p.P74P		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	74	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCAAGATGCCCTGGACATCTC	0.537000													28	81					2.12542e-12	2.5349e-12	1	1	0
NCBP2	22916	broad.mit.edu	37	3	196669346	196669346	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr3:196669346C>G	ENST00000321256.5	-	1	122	c.29G>C	c.(28-30)cGc>cCc	p.R10P	NCBP2-AS1_ENST00000447775.1_RNA|NCBP2_ENST00000427641.2_Missense_Mutation_p.R10P	NM_007362.3	NP_031388.2	P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	10					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		GGAGTCGCTGCGCAGCGCCTT	0.682000											OREG0016012	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	10					0	0	1	0	0
DMRTA2	63950	broad.mit.edu	37	1	50885339	50885339	+	Silent	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr1:50885339C>A	ENST00000404795.3	-	3	1019	c.627G>T	c.(625-627)ccG>ccT	p.P209P	DMRTA2_ENST00000418121.1_Silent_p.P209P	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	209	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(4)|pancreas(1)	6						GCGGCGGCAGCGGGCTGCCCG	0.692000													5	6					0.00198382	0.00203871	1	1	0
RYR2	6262	broad.mit.edu	37	1	237586394	237586394	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr1:237586394G>T	ENST00000366574.2	+	12	1168	c.851G>T	c.(850-852)tGg>tTg	p.W284L	RYR2_ENST00000542537.1_Missense_Mutation_p.W268L|RYR2_ENST00000360064.6_Missense_Mutation_p.W282L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	284					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)			TTCATTAGGTGGAGTGGAAGC	0.413000													75	258					4.03997e-35	6.07163e-35	1	1	0
GRAP2	9402	broad.mit.edu	37	22	40364276	40364276	+	Splice_Site	SNP	G	G	C			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr22:40364276G>C	ENST00000344138.4	+	6	953	c.690_splice	c.e6+1	p.Q230_splice	GRAP2_ENST00000540310.1_Splice_Site_p.Q164_splice|GRAP2_ENST00000399090.2_Splice_Site_p.Q117_splice|GRAP2_ENST00000543252.1_Splice_Site_p.Q190_splice|GRAP2_ENST00000544756.1_Splice_Site_p.Q158_splice|GRAP2_ENST00000407075.3_Splice_Site_p.Q230_splice	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	230					cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						aTTTCCACCAGGTATCTGGAA	0.602000													18	45					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702550	27702550	+	Silent	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr10:27702550C>A	ENST00000438700.3	-	1	747	c.630G>T	c.(628-630)tcG>tcT	p.S210S		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	210					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCACCAGAAGCGAGACGAAAT	0.637000													97	109					1.80868e-48	2.90282e-48	1	1	0
USP10	9100	broad.mit.edu	37	16	84778796	84778796	+	Missense_Mutation	SNP	A	A	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr16:84778796A>T	ENST00000219473.7	+	4	822	c.709A>T	c.(709-711)Agg>Tgg	p.R237W	USP10_ENST00000562743.1_3'UTR|USP10_ENST00000570191.1_Missense_Mutation_p.R241W	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	237					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						CAGTGACACCAGGACTGCAGG	0.617000													19	48					0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115827446	115827446	+	Silent	SNP	T	T	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr5:115827446T>A	ENST00000343348.6	-	7	1312	c.525A>T	c.(523-525)gcA>gcT	p.A175A	CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.A175A|SEMA6A_ENST00000257414.8_Silent_p.A175A|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000503962.1_5'UTR	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	175	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CTGCAAACAGTGCAACGTTGG	0.453000													51	43					0	0	1	0	0
SLC24A1	9187	broad.mit.edu	37	15	65917127	65917127	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr15:65917127C>G	ENST00000261892.6	+	2	996	c.709C>G	c.(709-711)Ctt>Gtt	p.L237V	SLC24A1_ENST00000399033.4_Missense_Mutation_p.L237V|SLC24A1_ENST00000339868.6_Missense_Mutation_p.L237V|SLC24A1_ENST00000546330.1_Missense_Mutation_p.L237V|SLC24A1_ENST00000544319.2_Missense_Mutation_p.L237V|SLC24A1_ENST00000537259.1_Missense_Mutation_p.L237V	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	237					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						AACCAACTCTCTTAAGAGAAT	0.438000													15	57					0	0	1	0	0
BOLL	66037	broad.mit.edu	37	2	198622102	198622102	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr2:198622102C>G	ENST00000321801.7	-	8	1181	c.611G>C	c.(610-612)gGa>gCa	p.G204A	BOLL_ENST00000282278.8_Missense_Mutation_p.G83A|BOLL_ENST00000392296.4_Missense_Mutation_p.G192A|AC011997.1_ENST00000409845.1_Intron|BOLL_ENST00000430004.1_Missense_Mutation_p.G214A|BOLL_ENST00000433157.1_Missense_Mutation_p.G192A	NM_197970.2	NP_932074.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	192					cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						CTGCCACTGTCCTGGTAAATA	0.308000													16	71					0	0	1	0	0
PTF1A	256297	broad.mit.edu	37	10	23482674	23482674	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr10:23482674C>G	ENST00000376504.3	+	2	1030	c.826C>G	c.(826-828)Cta>Gta	p.L276V		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	276					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CCTCCCTCCCCTAGCAGGACA	0.512000													300	380					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71394283	71394283	+	Missense_Mutation	SNP	G	G	C			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr17:71394283G>C	ENST00000392650.3	-	24	3245	c.3245C>G	c.(3244-3246)cCc>cGc	p.P1082R	SDK2_ENST00000388726.3_Missense_Mutation_p.P1082R	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1082	Fibronectin type-III 5.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGGCTGACTGGGGGGGCTGGT	0.617000													48	26					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55481509	55481509	+	Silent	SNP	C	C	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr19:55481509C>T	ENST00000543010.1	+	2	269	c.126C>T	c.(124-126)atC>atT	p.I42I	NLRP2_ENST00000339757.7_Silent_p.I42I|NLRP2_ENST00000537859.1_Silent_p.I42I|NLRP2_ENST00000448584.2_Silent_p.I42I|NLRP2_ENST00000427260.2_Silent_p.I42I|NLRP2_ENST00000391721.4_Silent_p.I42I|NLRP2_ENST00000538819.1_Silent_p.I42I|NLRP2_ENST00000263437.6_Silent_p.I42I	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	42	DAPIN.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TCCAGAAGATCCCCCACAAGG	0.552000													68	47					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79175812	79175812	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr14:79175812C>A	ENST00000554719.1	+	4	846	c.355C>A	c.(355-357)Caa>Aaa	p.Q119K	NRXN3_ENST00000335750.5_Missense_Mutation_p.Q119K|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGGAAAGCCCCAAGAGAGGAA	0.522000													41	176					6.5261e-18	8.35856e-18	1	1	0
NOTCH1	4851	broad.mit.edu	37	9	139397707	139397707	+	Silent	SNP	G	G	A	rs10521	by1000genomes	TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr9:139397707G>A	ENST00000277541.6	-	27	5169	c.5094C>T	c.(5092-5094)gaC>gaT	p.D1698D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1698					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.D1699D(11)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATGCGGCCACGTCGGTGGCAC	0.632000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			4	84					0	0	1	0	0
NETO2	81831	broad.mit.edu	37	16	47117175	47117175	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr16:47117175C>A	ENST00000562435.1	-	9	1919	c.1535G>T	c.(1534-1536)gGg>gTg	p.G512V	NETO2_ENST00000303155.5_Missense_Mutation_p.G505V	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	512						integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				ATCTTCTCGCCCCCTGACATA	0.473000										HNSCC(25;0.065)			98	194					4.08182e-41	6.35494e-41	1	1	0
MAP4K3	8491	broad.mit.edu	37	2	39485694	39485694	+	Silent	SNP	T	T	C			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr2:39485694T>C	ENST00000263881.3	-	30	2667	c.2343A>G	c.(2341-2343)caA>caG	p.Q781Q	MAP4K3_ENST00000437545.1_Silent_p.Q697Q|MAP4K3_ENST00000536018.1_Silent_p.Q334Q|MAP4K3_ENST00000341681.5_Silent_p.Q760Q	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	781	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CTCTCTCCAGTTGGGTTACAT	0.328000													49	55					0	0	1	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709081	128709081	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr11:128709081C>A	ENST00000392665.2	-	2	1202	c.1058G>T	c.(1057-1059)gGc>gTc	p.G353V	KCNJ1_ENST00000324036.3_Missense_Mutation_p.G353V|KCNJ1_ENST00000440599.2_Missense_Mutation_p.G353V|KCNJ1_ENST00000392666.1_Missense_Mutation_p.G353V|KCNJ1_ENST00000392664.2_Missense_Mutation_p.G372V	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	372					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	GTTGTCATAGCCTCTCTTCAT	0.428000													42	34					1.43246e-33	2.12823e-33	1	1	0
CHRM2	1129	broad.mit.edu	37	7	136700550	136700550	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr7:136700550G>T	ENST00000445907.2	+	3	1466	c.938G>T	c.(937-939)gGc>gTc	p.G313V	CHRM2_ENST00000402486.3_Missense_Mutation_p.G313V|CHRM2_ENST00000320658.5_Missense_Mutation_p.G313V|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.G313V|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.G313V|CHRM2_ENST00000401861.1_Missense_Mutation_p.G313V|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	313					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	ACTTCCCTGGGCCATTCCAAA	0.458000													71	124					1.64915e-30	2.42248e-30	1	1	0
SLC6A5	9152	broad.mit.edu	37	11	20622919	20622919	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr11:20622919G>T	ENST00000525748.1	+	2	521	c.248G>T	c.(247-249)aGt>aTt	p.S83I		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	83					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TGCAAACTCAGTAGCCCGCGG	0.721000													5	4					0.000602214	0.00063391	1	1	0
ZNF556	80032	broad.mit.edu	37	19	2877840	2877840	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr19:2877840C>T	ENST00000586426.1	+	4	968	c.881C>T	c.(880-882)gCc>gTc	p.A294V	ZNF556_ENST00000307635.2_Missense_Mutation_p.A295V			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGGGAAAGCCTACTGCTGG	0.512000													38	32					0	0	1	0	0
PSMB11	122706	broad.mit.edu	37	14	23511481	23511481	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr14:23511481G>T	ENST00000408907.2	+	1	106	c.47G>T	c.(46-48)gGa>gTa	p.G16V		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	16					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		GACACCCAGGGACCATCACCT	0.627000													50	221					5.13769e-22	6.88556e-22	1	1	0
LRP5L	91355	broad.mit.edu	37	22	25753347	25753347	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr22:25753347C>A	ENST00000444995.3	-	5	1013	c.313G>T	c.(313-315)Gcc>Tcc	p.A105S	LRP5L_ENST00000402859.2_Missense_Mutation_p.A105S|LRP5L_ENST00000402785.2_Missense_Mutation_p.A105S			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	105										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						TCCAGGTTGGCACGCTTGATT	0.592000													56	69					2.22609e-26	3.11173e-26	1	1	0
LTBP2	4053	broad.mit.edu	37	14	75019651	75019651	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr14:75019651G>T	ENST00000261978.4	-	5	1522	c.1136C>A	c.(1135-1137)aCc>aAc	p.T379N	LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.T379N|CTD-2207P18.1_ENST00000554552.1_lincRNA	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	379					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GTACAGGGTGGTGGTGTCGCC	0.587000													15	38					1.3612e-06	1.49963e-06	1	1	0
OR52N2	390077	broad.mit.edu	37	11	5842134	5842134	+	Missense_Mutation	SNP	C	C	A	rs140734548	byFrequency	TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr11:5842134C>A	ENST00000317037.2	+	1	591	c.569C>A	c.(568-570)tCc>tAc	p.S190Y	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCAAGGTATCCTGTGGCAAT	0.473000													170	152					1.8266e-78	3.27528e-78	1	1	0
ETS2	2114	broad.mit.edu	37	21	40194739	40194739	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr21:40194739C>A	ENST00000360214.3	+	11	1796	c.1336C>A	c.(1336-1338)Ctc>Atc	p.L446I	ETS2_ENST00000360938.3_Missense_Mutation_p.L446I	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	446					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				CGTGTGCGACCTCCAGAACTT	0.622000													22	57					7.41877e-09	8.49727e-09	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113259301	113259301	+	Silent	SNP	T	T	C			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr8:113259301T>C	ENST00000297405.5	-	64	10414	c.10170A>G	c.(10168-10170)acA>acG	p.T3390T	CSMD3_ENST00000352409.3_Silent_p.T3320T|CSMD3_ENST00000343508.3_Silent_p.T3350T|CSMD3_ENST00000455883.2_Silent_p.T3221T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3390	Sushi 27.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGCAGGTGCGTGTTGTAGACC	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			65	73					0	0	1	0	0
LIN7A	8825	broad.mit.edu	37	12	81205403	81205403	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr12:81205403G>T	ENST00000552864.1	-	5	745	c.543C>A	c.(541-543)agC>agA	p.S181R		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	181	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						CCAGCTTGACGCTGTCTTTAG	0.488000													48	42					2.0833e-19	2.70829e-19	1	1	0
C15orf37	283687	broad.mit.edu	37	15	80215233	80215233	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr15:80215233C>G	ENST00000560255.1	+	1	121	c.118C>G	c.(118-120)Ccc>Gcc	p.P40A	ST20-MTHFS_ENST00000494999.1_Intron|ST20-MTHFS_ENST00000479961.1_Intron|ST20_ENST00000485386.1_Intron					chromosome 15 open reading frame 37											kidney(1)|lung(1)|stomach(1)	3						ATCCAACCAACCCACCAACCC	0.567000													23	81					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50463954	50463954	+	Silent	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr2:50463954G>T	ENST00000404971.1	-	19	4978	c.3639C>A	c.(3637-3639)ggC>ggA	p.G1213G	NRXN1_ENST00000406316.2_Silent_p.G1173G|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Silent_p.G1173G|NRXN1_ENST00000406859.3_Silent_p.G1173G|NRXN1_ENST00000402717.3_Silent_p.G1165G|NRXN1_ENST00000342183.5_Silent_p.G138G|NRXN1_ENST00000401710.1_Silent_p.G191G|NRXN1_ENST00000405472.3_Silent_p.G1165G	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1173	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGTCACCCAAGCCTGAAGAAC	0.398000													32	93					1.39649e-27	2.006e-27	1	1	0
ZNF99	7652	broad.mit.edu	37	19	22940265	22940265	+	Missense_Mutation	SNP	A	A	G	rs74170740		TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr19:22940265A>G	ENST00000397104.3	-	5	2172	c.2173T>C	c.(2173-2175)Tcc>Ccc	p.S725P	ZNF99_ENST00000596209.1_Missense_Mutation_p.S816P					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CATTTGTAGGATTTCTCTCCA	0.348000													11	43					0	0	1	0	0
STAP1	26228	broad.mit.edu	37	4	68442941	68442941	+	Silent	SNP	G	G	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr4:68442941G>A	ENST00000265404.2	+	4	409	c.327G>A	c.(325-327)ggG>ggA	p.G109G	STAP1_ENST00000396225.1_Silent_p.G109G	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	109	PH.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						CAGAAAGTGGGGAAGAATGGA	0.348000													18	27					0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141954953	141954953	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr7:141954953C>T	ENST00000552471.1	-	3	677	c.358G>A	c.(358-360)Gcc>Acc	p.A120T	PRSS58_ENST00000547058.2_Missense_Mutation_p.A120T			Q8IYP2	PRS58_HUMAN	protease, serine, 58	120	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GGCAGGTTGGCTAATTTCACA	0.403000													119	203					0	0	1	0	0
LUC7L	55692	broad.mit.edu	37	16	258094	258094	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr16:258094C>A	ENST00000337351.4	-	4	472	c.349G>T	c.(349-351)Gcg>Tcg	p.A117S	LUC7L_ENST00000397780.1_Missense_Mutation_p.A64S|LUC7L_ENST00000397783.1_Missense_Mutation_p.A117S|LUC7L_ENST00000293872.8_Missense_Mutation_p.A117S	NM_018032.3	NP_060502.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	117							metal ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				GAAACTTCCGCACTGATTTCC	0.468000													48	116					3.21987e-24	4.45301e-24	1	1	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2																						CGTTGGTGTTTTTGTAGACCA	0.617000													4	40					0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74490579	74490579	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr16:74490579C>A	ENST00000422840.2	-	25	3339	c.3340G>T	c.(3340-3342)Gac>Tac	p.D1114Y	GLG1_ENST00000205061.5_Missense_Mutation_p.D1114Y|GLG1_ENST00000447066.2_Missense_Mutation_p.D1103Y	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	1114						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TCAATCCGGTCATTGAGGCGC	0.418000													61	173					2.77303e-49	4.50617e-49	1	1	0
ATP4A	495	broad.mit.edu	37	19	36054406	36054406	+	Silent	SNP	C	C	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr19:36054406C>T	ENST00000262623.3	-	2	64	c.36G>A	c.(34-36)gtG>gtA	p.V12V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	12					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GACCCAGCTCCACCGAGTAGA	0.612000													175	124					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10536029	10536029	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr17:10536029C>G	ENST00000583535.1	-	34	4807	c.4720G>C	c.(4720-4722)Gat>Cat	p.D1574H	MYH3_ENST00000226209.7_Missense_Mutation_p.D1574H	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1574					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ATCTTTCTATCAATTTCTGAT	0.468000													224	148					0	0	1	0	0
GPC6	10082	broad.mit.edu	37	13	95050778	95050778	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr13:95050778G>T	ENST00000377047.4	+	8	1963	c.1348G>T	c.(1348-1350)Gat>Tat	p.D450Y		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	450						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TCCCGAGGTGGATGTGGACAT	0.488000													47	39					2.68985e-26	3.7399e-26	1	1	0
COLEC12	81035	broad.mit.edu	37	18	334822	334822	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr18:334822G>A	ENST00000400256.3	-	6	1943	c.1736C>T	c.(1735-1737)cCc>cTc	p.P579L		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	579	Collagen-like 3.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				AGGGCCGGGGGGGCCCTTGGG	0.692000													10	6					0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78011361	78011361	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chrX:78011361C>A	ENST00000435339.2	+	2	1400	c.995C>A	c.(994-996)tCc>tAc	p.S332Y	LPAR4_ENST00000373301.2_Missense_Mutation_p.S332Y	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	332						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						AGAATGGAGTCCCTGTTTAAG	0.408000													121	56					1.6041e-38	2.45333e-38	1	1	0
NEK1	4750	broad.mit.edu	37	4	170384466	170384466	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr4:170384466C>G	ENST00000439128.2	-	25	3071	c.2431G>C	c.(2431-2433)Gtt>Ctt	p.V811L	NEK1_ENST00000510533.1_Missense_Mutation_p.V767L|NEK1_ENST00000512193.1_Missense_Mutation_p.V742L|NEK1_ENST00000511633.1_Missense_Mutation_p.V795L|NEK1_ENST00000507142.1_Missense_Mutation_p.V839L	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	811					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		ATCTTTAGAACAGAATCTGTC	0.353000													63	45					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49167691	49167691	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr3:49167691C>T	ENST00000418109.1	-	10	1362	c.1198G>A	c.(1198-1200)Gac>Aac	p.D400N	LAMB2_ENST00000305544.4_Missense_Mutation_p.D400N	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	400	Laminin EGF-like 2.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCCGCAGGTCCTTGGTTGGG	0.597000													34	48					0	0	1	0	0
FAR2P1	440905	broad.mit.edu	37	2	130792746	130792746	+	RNA	SNP	G	G	C			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr2:130792746G>C	ENST00000325390.3	-	0	2582					NR_026758.1																						CAGCTAGTGGGAGATTGACGG	0.483000													36	47					0	0	1	0	0
SH2D2A	9047	broad.mit.edu	37	1	156777073	156777073	+	Missense_Mutation	SNP	T	T	G			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr1:156777073T>G	ENST00000392306.2	-	8	1236	c.1097A>C	c.(1096-1098)cAc>cCc	p.H366P	SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P|SH2D2A_ENST00000368199.3_Missense_Mutation_p.H356P	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	356	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGGGGCTGGTGGGGCAGGGG	0.597000													6	46					0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114154797	114154797	+	Silent	SNP	G	G	C			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr10:114154797G>C	ENST00000393081.1	+	2	400	c.93G>C	c.(91-93)ctG>ctC	p.L31L	ACSL5_ENST00000433418.1_Silent_p.L31L|ACSL5_ENST00000479936.1_3'UTR|ACSL5_ENST00000354655.4_Silent_p.L31L|ACSL5_ENST00000354273.4_Silent_p.L31L|ACSL5_ENST00000356116.1_Silent_p.L87L	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	31					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TCTTGTGGCTGATCACCAGAC	0.443000													50	180					0	0	1	0	0
KRTAP19-3	337970	broad.mit.edu	37	21	31864170	31864170	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr21:31864170C>A	ENST00000334063.4	-	1	105	c.106G>T	c.(106-108)Ggt>Tgt	p.G36C		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	36						intermediate filament				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						CAGCCAGAACCCAGTCTGCGG	0.592000													200	460					5.71156e-53	9.58068e-53	1	1	0
TTN	7273	broad.mit.edu	37	2	179404855	179404855	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr2:179404855C>T	ENST00000589042.1	-	351	98262	c.98038G>A	c.(98038-98040)Gct>Act	p.A32680T	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A23615T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A31039T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A23740T|TTN_ENST00000342992.6_Missense_Mutation_p.A30112T|TTN_ENST00000342175.6_Missense_Mutation_p.A23807T|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31039	Ig-like 144.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTCCACCAGCATTACAAGCT	0.468000													11	346					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	rs28934576	by1000genomes	TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr17:7577120C>A	ENST00000420246.2	-	8	950	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_ENST00000269305.4_Missense_Mutation_p.R273L|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000455263.2_Missense_Mutation_p.R273L|TP53_ENST00000445888.2_Missense_Mutation_p.R273L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and 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; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			43	24					7.53189e-24	1.03068e-23	1	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140718766	140718766	+	Silent	SNP	T	T	C			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr5:140718766T>C	ENST00000394576.2	+	1	228	c.228T>C	c.(226-228)gcT>gcC	p.A76A	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTCTTTGCTCTGAACCCGC	0.587000													73	69					0	0	1	0	0
DRD3	1814	broad.mit.edu	37	3	113850168	113850168	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr3:113850168C>A	ENST00000383673.2	-	6	1233	c.803G>T	c.(802-804)gGc>gTc	p.G268V	DRD3_ENST00000460779.1_Missense_Mutation_p.G268V|DRD3_ENST00000467632.1_Missense_Mutation_p.G268V|DRD3_ENST00000295881.7_Missense_Mutation_p.G268V	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	268					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	TTCTTGGAAGCCTGGTCCACC	0.542000													110	100					4.09449e-47	6.49126e-47	1	1	0
PSMB3	5691	broad.mit.edu	37	17	36916717	36916717	+	Silent	SNP	C	C	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr17:36916717C>T	ENST00000225426.4	+	4	421	c.330C>T	c.(328-330)gcC>gcT	p.A110A		NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN	proteasome (prosome, macropain) subunit, beta type, 3	110					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(1)	4						CAGTCATTGCCGGGTTGGACC	0.537000													35	137					0	0	1	0	0
ANAPC16	119504	broad.mit.edu	37	10	73992792	73992792	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr10:73992792G>T	ENST00000299381.4	+	4	369	c.251G>T	c.(250-252)gGt>gTt	p.G84V	ANAPC16_ENST00000470481.2_3'UTR	NM_001242546.1|NM_001242547.1|NM_001242548.1|NM_173473.3	NP_001229475.1|NP_001229476.1|NP_001229477.1|NP_775744.1	Q96DE5	APC16_HUMAN	anaphase promoting complex subunit 16	84					cell division|mitosis|protein ubiquitination	anaphase-promoting complex|cytoplasm				large_intestine(1)|ovary(1)	2						AAACTAGCTGGTTTGGTAGAA	0.507000													29	57					2.65835e-16	3.32293e-16	1	1	0
TMEM185A	84548	broad.mit.edu	37	X	148693044	148693044	+	Silent	SNP	T	T	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chrX:148693044T>A	ENST00000316916.8	-	2	445	c.141A>T	c.(139-141)atA>atT	p.I47I	TMEM185A_ENST00000536359.1_Intron|TMEM185A_ENST00000507237.1_Silent_p.I47I	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	47						integral to membrane				kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCCACAGCCATATTGGAGCAA	0.473000													250	118					0	0	1	0	0
MRAP2	112609	broad.mit.edu	37	6	84765133	84765133	+	Silent	SNP	A	A	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr6:84765133A>T	ENST00000257776.4	+	2	231	c.96A>T	c.(94-96)ccA>ccT	p.P32P		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	32					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						AGATTGGACCAGTTTCCTTTG	0.388000													38	36					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50464097	50464097	+	Missense_Mutation	SNP	A	A	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr2:50464097A>T	ENST00000404971.1	-	19	4835	c.3496T>A	c.(3496-3498)Tat>Aat	p.Y1166N	NRXN1_ENST00000406316.2_Missense_Mutation_p.Y1126N|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.Y1126N|NRXN1_ENST00000406859.3_Missense_Mutation_p.Y1126N|NRXN1_ENST00000402717.3_Missense_Mutation_p.Y1118N|NRXN1_ENST00000342183.5_Missense_Mutation_p.Y91N|NRXN1_ENST00000401710.1_Missense_Mutation_p.Y144N|NRXN1_ENST00000405472.3_Missense_Mutation_p.Y1118N	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1126	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTAAAGATATATGTCGTCCCA	0.408000													57	89					0	0	1	0	0
FAM181B	220382	broad.mit.edu	37	11	82443523	82443523	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr11:82443523C>A	ENST00000329203.3	-	1	1383	c.1249G>T	c.(1249-1251)Gcg>Tcg	p.A417S		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	417										large_intestine(1)|lung(2)|prostate(1)	4						TCCCCCGGCGCCCCTTCCCAA	0.677000													11	24					0.000673444	0.000703195	1	1	0
RAB7L1	8934	broad.mit.edu	37	1	205744038	205744038	+	Missense_Mutation	SNP	G	G	C			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr1:205744038G>C	ENST00000367139.3	-	2	350	c.47C>G	c.(46-48)gCc>gGc	p.A16G	RAB7L1_ENST00000414729.1_Missense_Mutation_p.A16G|RAB7L1_ENST00000468887.1_Intron|RAB7L1_ENST00000446390.2_Missense_Mutation_p.A16G|RAB7L1_ENST00000235932.4_Missense_Mutation_p.A16G|RAB7L1_ENST00000437324.2_Intron	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN	RAB7, member RAS oncogene family-like 1	16					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GCCCACTGCGGCGTCCCCCAC	0.642000													40	72					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143029891	143029891	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr7:143029891C>A	ENST00000343257.2	+	12	1413	c.1326C>A	c.(1324-1326)agC>agA	p.S442R		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	442					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ATCCTGAGAGCCTGGGCCAGT	0.517000													106	239					1.77424e-55	2.99548e-55	1	1	0
OR2T33	391195	broad.mit.edu	37	1	248436906	248436906	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr1:248436906G>T	ENST00000318021.2	-	1	232	c.211C>A	c.(211-213)Ctg>Atg	p.L71M		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTGGAAACCAGCATCATGTCC	0.557000													219	287					1.60711e-142	2.92202e-142	1	1	0
GCC2	9648	broad.mit.edu	37	2	109092020	109092020	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr2:109092020G>T	ENST00000309863.6	+	8	3604	c.2890G>T	c.(2890-2892)Gag>Tag	p.E964*		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	964					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						CAAAGAAAAGGAGGAGAAAAT	0.289000													7	14					2.7689e-08	3.15751e-08	1	1	0
PNKP	11284	broad.mit.edu	37	19	50370414	50370414	+	Silent	SNP	A	A	G			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr19:50370414A>G	ENST00000322344.3	-	2	157	c.48T>C	c.(46-48)ccT>ccC	p.P16P	PNKP_ENST00000600573.1_Silent_p.P16P|PNKP_ENST00000596014.1_Silent_p.P16P|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000600910.1_Silent_p.P16P	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	16					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	p.P16P(8)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GCGCTCCCCCAGGGGGGCTCT	0.721000								Other BER factors					8	39					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43096778	43096778	+	Missense_Mutation	SNP	G	G	T	rs150064108		TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr6:43096778G>T	ENST00000230419.4	+	2	364	c.143G>T	c.(142-144)cGg>cTg	p.R48L	PTK7_ENST00000349241.2_Missense_Mutation_p.R48L|PTK7_ENST00000352931.2_Missense_Mutation_p.R48L|PTK7_ENST00000471863.1_Missense_Mutation_p.R48L|PTK7_ENST00000345201.2_Missense_Mutation_p.R48L|PTK7_ENST00000476760.1_Missense_Mutation_p.R48L|PTK7_ENST00000481273.1_Missense_Mutation_p.R56L	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	48	Ig-like C2-type 1.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R48Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CAGGGGCGCCGGGCGCTGCTT	0.652000													50	113					1.00776e-21	1.33682e-21	1	1	0
COX10-AS1	100874058	broad.mit.edu	37	17	13927886	13927886	+	RNA	SNP	G	G	A	rs11649821	by1000genomes	TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr17:13927886G>A	ENST00000602743.1	-	0	224																											AACGGAGGGAGTGAGAGCCTT	0.562000													4	82					0	0	1	0	0
ZNF333	84449	broad.mit.edu	37	19	14827808	14827808	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr19:14827808G>T	ENST00000292530.6	+	10	821	c.730G>T	c.(730-732)Gat>Tat	p.D244Y	ZNF333_ENST00000536363.1_Missense_Mutation_p.D135Y|ZNF333_ENST00000540689.2_Missense_Mutation_p.D244Y	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	244	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						ATGAGCAGCTGATCAACTGTG	0.522000													10	11					3.07112e-06	3.36916e-06	1	1	0
PLSCR1	5359	broad.mit.edu	37	3	146239431	146239431	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr3:146239431C>T	ENST00000342435.4	-	7	1048	c.638G>A	c.(637-639)tGt>tAt	p.C213Y	PLSCR1_ENST00000448787.2_Missense_Mutation_p.C132Y|PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000487389.1_Missense_Mutation_p.C206Y	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	213					phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						CTTTGGTAGACATGGGTGCCA	0.353000													41	53					0	0	1	0	0
SRPK3	26576	broad.mit.edu	37	X	153049528	153049528	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chrX:153049528C>A	ENST00000489426.1	+	16	3574	c.1208C>A	c.(1207-1209)cCc>cAc	p.P403H	SRPK3_ENST00000393786.3_Intron|SRPK3_ENST00000370100.1_Intron|SRPK3_ENST00000370104.1_Missense_Mutation_p.P335H|SRPK3_ENST00000370101.3_Missense_Mutation_p.P336H|SRPK3_ENST00000370108.3_Intron			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	336	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTTCCTCCCCCGCCCCAGGG	0.697000													41	22					2.40579e-17	3.03644e-17	1	1	0
AK9	221264	broad.mit.edu	37	6	109962757	109962757	+	Translation_Start_Site	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr6:109962757C>A	ENST00000341338.6	-	0	973				AK9_ENST00000424296.2_Missense_Mutation_p.Q299H|AK9_ENST00000285397.5_Missense_Mutation_p.Q299H|AK9_ENST00000368948.2_Missense_Mutation_p.Q299H					adenylate kinase 9																		CCTCTGCACCCTGAAGTTTGG	0.348000													22	30					1.50039e-11	1.76517e-11	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139164925	139164925	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr8:139164925C>A	ENST00000395297.1	-	13	1963	c.1793G>T	c.(1792-1794)gGt>gTt	p.G598V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	598										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTGGCTTCCACCTACTACCAC	0.463000										HNSCC(54;0.14)			116	353					7.08065e-59	1.21116e-58	1	1	0
SEMG1	6406	broad.mit.edu	37	20	43836170	43836170	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr20:43836170C>G	ENST00000372781.3	+	2	289	c.232C>G	c.(232-234)Cag>Gag	p.Q78E	SEMG1_ENST00000244069.6_Missense_Mutation_p.Q78E	NM_003007.3	NP_002998.1			semenogelin I											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)				TGATCATGACCAGTCCCGAAA	0.398000													90	172					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7569490	7569490	+	Silent	SNP	C	C	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr6:7569490C>T	ENST00000379802.3	+	12	1832	c.1491C>T	c.(1489-1491)ggC>ggT	p.G497G	DSP_ENST00000418664.2_Silent_p.G497G	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	497	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACGTGACGGGCCCGGGAGGCG	0.562000													112	176					0	0	1	0	0
CTAGE6	340307	broad.mit.edu	37	7	143453483	143453483	+	Silent	SNP	G	G	C			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr7:143453483G>C	ENST00000470691.2	-	1	1306	c.1269C>G	c.(1267-1269)ctC>ctG	p.L423L		NM_178561.4	NP_848656.2			CTAGE family, member 6													Melanoma(164;0.0903)					TGGCACGGCTGAGCTTTTCTT	0.373000													72	391					0	0	1	0	0
ZWINT	11130	broad.mit.edu	37	10	58118708	58118708	+	Splice_Site	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr10:58118708C>A	ENST00000373944.3	-	6	519	c.480_splice	c.e6-1	p.E161_splice	ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000318387.2_Splice_Site_p.E41_splice|ZWINT_ENST00000361148.6_Splice_Site_p.E161_splice|ZWINT_ENST00000395405.1_Splice_Site_p.E161_splice			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	161					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						AGATGCTTCTCCTGCCAGGAG	0.537000													31	124					5.09552e-08	5.76015e-08	1	1	0
PCDHB3	56132	broad.mit.edu	37	5	140482001	140482001	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr5:140482001G>T	ENST00000231130.2	+	1	1768	c.1768G>T	c.(1768-1770)Gtg>Ttg	p.V590L		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		590	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACCAAGGTGGTGGCGGTGGA	0.706000													79	67					7.29696e-51	1.20841e-50	1	1	0
DNAJC22	79962	broad.mit.edu	37	12	49742765	49742765	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr12:49742765C>A	ENST00000549441.2	+	3	1314	c.110C>A	c.(109-111)aCc>aAc	p.T37N	DNAJC22_ENST00000395069.3_Missense_Mutation_p.T37N			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	37					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						TGGATGCTGACCCTGGGGGGA	0.667000													71	60					4.83677e-39	7.44119e-39	1	1	0
GOLIM4	27333	broad.mit.edu	37	3	167761252	167761252	+	Missense_Mutation	SNP	T	T	G			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr3:167761252T>G	ENST00000470487.1	-	5	1121	c.432A>C	c.(430-432)gaA>gaC	p.E144D	GOLIM4_ENST00000309027.4_Missense_Mutation_p.E144D	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	144	Endosome targeting.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TACTGAAGTCTTCCCCTTGTT	0.378000													70	65					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158647559	158647559	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr1:158647559C>A	ENST00000368148.3	-	7	1058	c.878G>T	c.(877-879)gGc>gTc	p.G293V	SPTA1_ENST00000368147.3_Missense_Mutation_p.G293V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	293					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AAGGTCTTTGCCATAGTCCTC	0.463000													85	99					1.20873e-29	1.7557e-29	1	1	0
OBSL1	23363	broad.mit.edu	37	2	220424039	220424039	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr2:220424039C>A	ENST00000404537.1	-	9	3190	c.3134G>T	c.(3133-3135)cGc>cTc	p.R1045L	OBSL1_ENST00000603926.1_Missense_Mutation_p.R1045L|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000265317.5_Missense_Mutation_p.R36L|OBSL1_ENST00000373876.1_Missense_Mutation_p.R1045L|OBSL1_ENST00000265318.4_Missense_Mutation_p.R1045L	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1045	Ig-like 8.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TAGCACCAGGCGGCAGCGTGG	0.632000													92	197					6.88379e-33	1.01692e-32	1	1	0
DRD2	1813	broad.mit.edu	37	11	113281583	113281583	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr11:113281583C>A	ENST00000362072.3	-	8	1542	c.1198G>T	c.(1198-1200)Gac>Tac	p.D400Y	DRD2_ENST00000355319.2_Missense_Mutation_p.D402Y|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000542968.1_Missense_Mutation_p.D400Y|DRD2_ENST00000538967.1_Missense_Mutation_p.D402Y|DRD2_ENST00000346454.3_Missense_Mutation_p.D371Y|DRD2_ENST00000544518.1_Missense_Mutation_p.D399Y	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	400					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.D400Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	ATGTTGCAGTCACAGTGTATG	0.572000													62	54					4.64241e-40	7.18468e-40	1	1	0
DOCK11	139818	broad.mit.edu	37	X	117712607	117712607	+	Silent	SNP	A	A	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chrX:117712607A>T	ENST00000276204.6	+	13	1583	c.1509A>T	c.(1507-1509)gtA>gtT	p.V503V	DOCK11_ENST00000498252.1_3'UTR|DOCK11_ENST00000276202.7_Silent_p.V503V			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	503					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CTGATCCAGTAAAGGTAATTT	0.328000													5	50					0	0	1	0	0
SLC43A2	124935	broad.mit.edu	37	17	1520021	1520021	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr17:1520021C>T	ENST00000571650.1	-	3	509	c.203G>A	c.(202-204)gGg>gAg	p.G68E	SLC43A2_ENST00000382147.4_Missense_Mutation_p.G68E|SLC43A2_ENST00000301335.4_Missense_Mutation_p.G68E			Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	68					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		CTCCTCGTGCCCCGGCTCTGC	0.582000													47	41					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196887535	196887535	+	Nonstop_Mutation	SNP	A	A	C			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr1:196887535A>C	ENST00000367416.2	+	10	1870	c.1733A>C	c.(1732-1734)tAa>tCa	p.*578S	CFHR4_ENST00000367418.1_Nonstop_Mutation_p.*332S|CFHR4_ENST00000251424.4_Nonstop_Mutation_p.*332S|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						AGATGCGAATAAGGCAGCATT	0.373000													83	250					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422708	26422708	+	Silent	SNP	G	G	C			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr22:26422708G>C	ENST00000335473.7	+	43	7018	c.6768G>C	c.(6766-6768)ggG>ggC	p.G2256G	MYO18B_ENST00000536101.1_Silent_p.G2256G|MYO18B_ENST00000407587.2_Silent_p.G2257G	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2256						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCGTGGAAGGGCTCCGGAGGA	0.622000													19	15					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077809	9077809	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr19:9077809C>A	ENST00000397910.4	-	3	9840	c.9637G>T	c.(9637-9639)Gaa>Taa	p.E3213*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3214	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGCTGGGTTCCTTGGAGCTC	0.478000													115	80					4.10022e-50	6.70476e-50	1	1	0
NRXN3	9369	broad.mit.edu	37	14	79175811	79175811	+	Silent	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr14:79175811C>A	ENST00000554719.1	+	4	845	c.354C>A	c.(352-354)ccC>ccA	p.P118P	NRXN3_ENST00000335750.5_Silent_p.P118P|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ATGGAAAGCCCCAAGAGAGGA	0.517000													41	184					6.5261e-18	8.35856e-18	1	1	0
MSLN	10232	broad.mit.edu	37	16	815582	815582	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr16:815582G>A	ENST00000566549.1	+	9	1177	c.760G>A	c.(760-762)Gtg>Atg	p.V254M	MSLN_ENST00000563941.1_Missense_Mutation_p.V254M|MSLN_ENST00000382862.3_Missense_Mutation_p.V254M|MSLN_ENST00000545450.2_Missense_Mutation_p.V254M			Q13421	MSLN_HUMAN	mesothelin	254					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CCTGCTGCCCGTGCTGGGCCA	0.706000													18	39					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131519789	131519789	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr2:131519789C>A	ENST00000423981.1	+	2	254	c.144C>A	c.(142-144)caC>caA	p.H48Q	AMER3_ENST00000321420.4_Missense_Mutation_p.H48Q	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		AGAGGCCCCACAGTGAGAAGG	0.662000													6	15					0.248553	0.249512	1	1	0
CLCA2	9635	broad.mit.edu	37	1	86916408	86916408	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr1:86916408C>A	ENST00000370565.4	+	12	2309	c.2147C>A	c.(2146-2148)aCa>aAa	p.T716K	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	716					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CCAGGTTACACAGCAAACGGT	0.453000													79	76					3.33186e-49	5.38064e-49	1	1	0
BRDT	676	broad.mit.edu	37	1	92442776	92442776	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr1:92442776G>T	ENST00000370389.2	+	6	1500	c.576G>T	c.(574-576)aaG>aaT	p.K192N	BRDT_ENST00000402388.1_Missense_Mutation_p.K265N|BRDT_ENST00000362005.3_Missense_Mutation_p.K265N|BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000399546.2_Missense_Mutation_p.K265N|BRDT_ENST00000394530.3_Missense_Mutation_p.K219N	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ATGTTGTGAAGACTGTTAAAG	0.348000													37	53					1.07637e-12	1.29563e-12	1	1	0
VPS51	738	broad.mit.edu	37	11	64863748	64863748	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr11:64863748C>G	ENST00000279281.3	+	1	118	c.26C>G	c.(25-27)cCt>cGt	p.P9R		NM_013265.2	NP_037397.2			vacuolar protein sorting 51 homolog (S. cerevisiae)																		GCCGCCGGGCCTAGCCCGGGG	0.697000													3	0					0	0	1	0	0
STAU1	6780	broad.mit.edu	37	20	47768230	47768230	+	Silent	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr20:47768230C>A	ENST00000371828.3	-	5	643	c.156G>T	c.(154-156)gtG>gtT	p.V52V	STAU1_ENST00000347458.5_Silent_p.V52V|STAU1_ENST00000340954.7_Silent_p.V52V|STAU1_ENST00000371792.1_Silent_p.V52V|STAU1_ENST00000371802.1_Silent_p.V52V|STAU1_ENST00000360426.4_Silent_p.V52V|STAU1_ENST00000371856.2_Silent_p.V133V	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	133						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GCTGTCCTCCCACAGAAAGTT	0.443000													46	73					4.01344e-20	5.27017e-20	1	1	0
PCDHGA6	56109	broad.mit.edu	37	5	140756074	140756074	+	Splice_Site	SNP	G	G	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr5:140756074G>T	ENST00000517434.1	+	1	2424	c.2424_splice	c.e1+1	p.Q808_splice	PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAACTTCAGGTGAGTTTCT	0.473000													49	34					2.51966e-14	3.09015e-14	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11039057	11039057	+	RNA	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr21:11039057C>A	ENST00000470054.1	-	0	1146									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTCCATCAATCCAGTAGAAAG	0.393000													56	759					2.23044e-30	3.25794e-30	1	1	0
RP6-206I17.1	0	broad.mit.edu	37	1	143744408	143744408	+	RNA	SNP	C	C	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr1:143744408C>T	ENST00000445753.1	-	0	2																											GGCTGAAGGCCAAGTGGTTTC	0.562000													5	38					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143047473	143047473	+	Silent	SNP	C	C	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr7:143047473C>A	ENST00000343257.2	+	21	2499	c.2412C>A	c.(2410-2412)gcC>gcA	p.A804A		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	804					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AGATTGAGGCCTGGGAGCAGG	0.552000													21	49					1.01871e-10	1.18243e-10	1	1	0
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-	rs11556342		TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)del	p.E40del	HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome				10	271	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176563714	176563714	+	Frame_Shift_Del	DEL	T	T	-			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr1:176563714delT	ENST00000367662.3	+	3	2138	c.974delT	c.(973-975)acfs	p.I325fs	PAPPA2_ENST00000367661.3_Frame_Shift_Del_p.I325fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	325					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCCCTGGGGATCCGCTCAGGG	0.542													70	94	---	---	---	---					
MTR	4548	broad.mit.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr1:237024474delA	ENST00000366577.5	+	20	2487	c.2093delA	c.(2092-2094)cafs	p.Q698fs	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	698	B12-binding N-terminal.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGGTTAAACCAAAAAAAATAT	0.308													7	250	---	---	---	---					
KCNS3	3790	broad.mit.edu	37	2	18112517	18112518	+	Frame_Shift_Ins	INS	-	-	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr2:18112517_18112518insT	ENST00000403915.1	+	3	693_694	c.242_243insT	c.(241-243)attfs	p.I81fs	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Frame_Shift_Ins_p.I81fs			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	81					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	p.N81S(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TATGTTTTGAATTTTTATTACA	0.455													51	228	---	---	---	---					
AC016995.3	0	broad.mit.edu	37	2	38710023	38710023	+	RNA	DEL	T	T	-	rs2005503		TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr2:38710023delT	ENST00000417039.1	-	0	696																											aaaaaataaataaataaataa	0.244													7	8	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168114423	168114424	+	Frame_Shift_Ins	INS	-	-	C	rs139881474	by1000genomes	TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr2:168114423_168114424insC	ENST00000409728.1	+	11	1555_1556	c.1466_1467insC	c.(1465-1467)cctfs	p.P489fs	XIRP2_ENST00000409605.1_Frame_Shift_Ins_p.P234fs|XIRP2_ENST00000409043.1_Frame_Shift_Ins_p.P456fs|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Frame_Shift_Ins_p.P456fs|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Frame_Shift_Ins_p.P489fs	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CACTTTAAACAACTTTTCAAAT	0.337													22	92	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187521203	187521203	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr4:187521203delC	ENST00000441802.2	-	22	12161	c.11952delG	c.(11950-11952)ggfs	p.G3984fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3984	Laminin G-like.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGAGCTCCTGCCCATTCAAAT	0.507										HNSCC(5;0.00058)			89	99	---	---	---	---					
HLA-F-AS1	285830	broad.mit.edu	37	6	29709414	29709414	+	RNA	DEL	A	A	-			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr6:29709414delA	ENST00000458236.1	-	0	349																											tagtttccccatttcatagat	0.458													7	13	---	---	---	---					
SEC63	11231	broad.mit.edu	37	6	108214774	108214774	+	Frame_Shift_Del	DEL	T	T	-			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr6:108214774delT	ENST00000369002.4	-	16	1765	c.1586delA	c.(1585-1587)agfs	p.K530fs		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	530	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	p.K529fs*4(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TAAAGGTTTCTTTTTTTTTGA	0.368													7	136	---	---	---	---					
FAM229B	619208	broad.mit.edu	37	6	112421892	112421892	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr6:112421892delG	ENST00000368656.2	+	4	442	c.145delG	c.(145-147)gafs	p.G49fs	FAM229B_ENST00000604268.1_Frame_Shift_Del_p.G49fs	NM_001033564.1	NP_001028736.1			family with sequence similarity 229, member B																		GAGGTGCCCTGGAAGTCATTG	0.403													62	55	---	---	---	---					
OLIG3	167826	broad.mit.edu	37	6	137815210	137815212	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr6:137815210_137815212delTGG	ENST00000367734.2	-	1	319_321	c.96_98delCCA	c.(94-99)cag>ca	p.HQ32del		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	32	Poly-His.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.Q33K(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		ACGGCTCTCCtggtggtggtggt	0.596													8	161	---	---	---	---					
OSBPL3	26031	broad.mit.edu	37	7	24910371	24910371	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr7:24910371delC	ENST00000313367.2	-	5	812	c.361delG	c.(361-363)agfs	p.E121fs	OSBPL3_ENST00000431825.2_Frame_Shift_Del_p.E121fs|OSBPL3_ENST00000396429.1_Frame_Shift_Del_p.E121fs|OSBPL3_ENST00000409069.1_Frame_Shift_Del_p.E121fs|OSBPL3_ENST00000396431.1_Frame_Shift_Del_p.E121fs|OSBPL3_ENST00000352860.1_Frame_Shift_Del_p.E121fs|OSBPL3_ENST00000353930.1_Frame_Shift_Del_p.E121fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	121	PH.				lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TAGATGTGCTCCTCGGTGTCA	0.448													44	121	---	---	---	---					
POU6F2	11281	broad.mit.edu	37	7	39125552	39125553	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr7:39125552_39125553delTT	ENST00000518318.2	+	2	153_154	c.111_112delTT	c.(109-114)accafs	p.TS37fs	POU6F2_ENST00000464276.2_Frame_Shift_Del_p.TS29fs|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Frame_Shift_Del_p.TS29fs|POU6F2_ENST00000403058.1_Frame_Shift_Del_p.TS37fs			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	37					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						AGGCTGCTACTTCAGACAGCGA	0.515													13	71	---	---	---	---					
ZMIZ2	83637	broad.mit.edu	37	7	44805118	44805119	+	Frame_Shift_Ins	INS	-	-	C			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr7:44805118_44805119insC	ENST00000309315.4	+	16	2305_2306	c.2182_2183insC	c.(2182-2184)cccfs	p.P728fs	ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.P670fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.P696fs|ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.P728fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.P702fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	728	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCCGGCGCTGCCCCCTTTGCC	0.698													8	37	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100360042	100360042	+	RNA	DEL	C	C	-	rs3857808		TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr7:100360042delC	ENST00000542585.1	+	0	4134				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTGGAACtctctttttttttt	0.557													11	32	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142482025	142482025	+	RNA	DEL	A	A	-			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr7:142482025delA	ENST00000603901.1	+	0	591					NR_001296.3																						TGCAGTGCCCACATGGAGAAG	0.572													7	38	---	---	---	---					
ANKRD18B	441459	broad.mit.edu	37	9	33558098	33558099	+	Frame_Shift_Ins	INS	-	-	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr9:33558098_33558099insT	ENST00000290943.6	+	12	2283_2284	c.2187_2188insT	c.(2185-2190)gcttgcfs	p.C730fs		NM_001244752.1	NP_001231681.1			ankyrin repeat domain 18B											NS(1)|breast(1)|endometrium(2)|lung(1)|prostate(1)|stomach(1)	7						TGTTAAATGCATTTGCAAATGA	0.272													11	19	---	---	---	---					
MAMDC4	158056	broad.mit.edu	37	9	139749473	139749474	+	Frame_Shift_Ins	INS	-	-	C			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr9:139749473_139749474insC	ENST00000445819.1	+	10	1158_1159	c.1108_1109insC	c.(1108-1110)cccfs	p.P370fs	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Frame_Shift_Ins_p.P370fs			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	370	MAM 2.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		cgccccccgggcccccgTCCTG	0.678													11	38	---	---	---	---					
NUDT22	84304	broad.mit.edu	37	11	63997583	63997584	+	RNA	INS	-	-	C			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr11:63997583_63997584insC	ENST00000534988.1	-	0	99																											AAAAAAAAAAACCCGCCCAGCC	0.530													5	9	---	---	---	---					
SRPR	6734	broad.mit.edu	37	11	126137086	126137087	+	Frame_Shift_Ins	INS	-	-	T			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr11:126137086_126137087insT	ENST00000332118.6	-	4	663_664	c.509_510insA	c.(508-510)aggfs	p.R170fs	SRPR_ENST00000532259.1_Frame_Shift_Ins_p.R142fs	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	170					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	p.K170fs*33(2)|p.K170K(1)		endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TCTTGGCCCCCTTTTTTTTGCT	0.436													9	441	---	---	---	---					
GOLGA8DP	100132979	broad.mit.edu	37	15	22709277	22709278	+	RNA	INS	-	-	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr15:22709277_22709278insA	ENST00000314246.8	-	0	1157																											CTCTGGATTCCAaaaaaaaaag	0.515													7	67	---	---	---	---					
WDR90	197335	broad.mit.edu	37	16	712009	712019	+	Frame_Shift_Del	DEL	CGCGTGCCGGC	CGCGTGCCGGC	-	rs114487868	by1000genomes	TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr16:712009_712019delCGCGTGCCGGC	ENST00000549091.1	+	32	4075_4085	c.3983_3993delCGCGTGCCGGC	c.(3982-3993)afs	p.TRAG1328fs	WDR90_ENST00000293879.4_Frame_Shift_Del_p.TRAG1328fs	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1328										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GTCTGGGACACGCGTGCCGGCCGCTGCTTCT	0.664													45	118	---	---	---	---					
MYLK3	91807	broad.mit.edu	37	16	46744687	46744688	+	Frame_Shift_Ins	INS	-	-	A	rs150139689	by1000genomes	TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr16:46744687_46744688insA	ENST00000394809.4	-	11	2243_2244	c.2128_2129insT	c.(2128-2130)cccfs	p.P710fs	MYLK3_ENST00000536476.1_Frame_Shift_Ins_p.P369fs|MYLK3_ENST00000562104.1_5'UTR	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	710	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TAGAAATGGGGACAAGCCACTG	0.470													8	344	---	---	---	---					
SLC9A5	6553	broad.mit.edu	37	16	67300017	67300019	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr16:67300017_67300019delGAG	ENST00000299798.11	+	15	2172_2174	c.2107_2109delGAG	c.(2107-2109)del	p.E708del		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	708					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGTGGAGTCTGAGGAGGAGGAGG	0.571													7	148	---	---	---	---					
ZNF287	57336	broad.mit.edu	37	17	16456096	16456098	+	In_Frame_Del	DEL	ACT	ACT	-			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr17:16456096_16456098delACT	ENST00000395824.1	-	6	1975_1977	c.1358_1360delAGT	c.(1357-1362)agt>a	p.KC453del	ZNF287_ENST00000395825.3_In_Frame_Del_p.KC453del			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	446					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CAGTCATCACACTTATAGGGTTT	0.438													11	200	---	---	---	---					
RIN2	54453	broad.mit.edu	37	20	19955586	19955587	+	Frame_Shift_Ins	INS	-	-	A			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr20:19955586_19955587insA	ENST00000255006.6	+	8	1213_1214	c.1064_1065insA	c.(1063-1065)tccfs	p.S355fs	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	306					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CGGACTCGGTCCCCCCCACCCA	0.609													57	75	---	---	---	---					
NCOA6	23054	broad.mit.edu	37	20	33330968	33330970	+	In_Frame_Del	DEL	TGC	TGC	-	rs140426729	byFrequency	TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chr20:33330968_33330970delTGC	ENST00000374796.2	-	12	5660_5662	c.3090_3092delGCA	c.(3088-3093)caa>ca	p.QQ1030del	NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1030	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CATCATTtgttgctgctgctgct	0.576													8	281	---	---	---	---					
NXF4	55999	broad.mit.edu	37	X	101818542	101818542	+	RNA	DEL	C	C	-			TCGA-97-8179-01A-11D-2284-08	TCGA-97-8179-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a428fd-2548-4793-a862-1d3fdfd14bb6	cf807f9d-14e4-4e6b-bc28-562f01fb21a9	g.chrX:101818542delC	ENST00000360035.2	+	0	1040					NR_002216.1															endometrium(2)|lung(8)	10						GAGATAGTATCCGTCACTCTA	0.453													37	14	---	---	---	---					
