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
MST1P9	11223	broad.mit.edu	37	1	17084961	17084961	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr1:17084961C>T	uc010ock.2	-	11	1514	c.1514_splice	c.e11+1	p.R505_splice	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Splice_Site_p.R79_splice					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						TGTGCCTCACCGATTCCGCAA	0.622												
ZNF642	339559	broad.mit.edu	37	1	40945132	40945132	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr1:40945132G>A	uc010ojk.2	+	1	393	c.99G>A	c.(97-99)gaG>gaA	p.E33E	ZNF642_uc001cfo.3_Silent_p.E33E|ZNF642_uc009vwb.3_Silent_p.E33E	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	Homo sapiens zinc finger protein 642 (ZNF642), mRNA.	33	SCAN box.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.W32fs*4(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)			CCCTGTGGGAGGATGTGACTA	0.532												
FLG	2312	broad.mit.edu	37	1	152275826	152275826	+	Missense_Mutation	SNP	C	C	T	rs143233744		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr1:152275826C>T	uc001ezu.1	-	2	11572	c.11536G>A	c.(11536-11538)Ggc>Agc	p.G3846S		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3846	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S3845S(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCACCCTGGCCGGACTGTGAG	0.592									Ichthyosis			
FLG	2312	broad.mit.edu	37	1	152275878	152275878	+	Silent	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr1:152275878C>T	uc001ezu.1	-	2	11520	c.11484G>A	c.(11482-11484)tcG>tcA	p.S3828S		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3828	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G3827W(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGGTGACGCGACCCTGAGT	0.587									Ichthyosis			
SPTA1	6708	broad.mit.edu	37	1	158627401	158627401	+	Nonsense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr1:158627401G>A	uc001fst.1	-	18	2870	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	891					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	p.R891*(2)		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)					TCATTTTGTCGCCTAGCAGCT	0.463												
SPTA1	6708	broad.mit.edu	37	1	158637763	158637763	+	Missense_Mutation	SNP	C	C	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr1:158637763C>G	uc001fst.1	-	14	2122	c.1923G>C	c.(1921-1923)caG>caC	p.Q641H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	641					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	p.I640T(1)|p.Q641R(1)		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)					GGCCAGTTTTCTGTATGTTTT	0.473												
ARMC3	219681	broad.mit.edu	37	10	23321938	23321938	+	Missense_Mutation	SNP	G	G	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr10:23321938G>T	uc001irm.4	+	17	2478	c.2395G>T	c.(2395-2397)Gct>Tct	p.A799S	ARMC3_uc010qcv.2_Missense_Mutation_p.A792S|ARMC3_uc010qcw.2_Missense_Mutation_p.A536S	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	799							binding	p.R798*(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTACCATCGAGCTTTGCTTTT	0.353												
MCMBP	79892	broad.mit.edu	37	10	121600464	121600464	+	Missense_Mutation	SNP	C	C	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr10:121600464C>A	uc001ler.2	-	10	1437	c.1139G>T	c.(1138-1140)aGa>aTa	p.R380I	MCMBP_uc001leq.1_Missense_Mutation_p.R205I|MCMBP_uc001les.1_Missense_Mutation_p.R205I	NM_024834	NP_079110	Q9BTE3	MCMBP_HUMAN	Homo sapiens minichromosome maintenance complex binding protein (MCMBP), transcript variant 1, mRNA.	380					cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						GACATCTCTTCTTGTATATCT	0.328												
CHRNA10	57053	broad.mit.edu	37	11	3690464	3690464	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr11:3690464G>A	uc001lyf.3	-	2	396	c.324C>T	c.(322-324)agC>agT	p.S108S	CHRNA10_uc010qxt.2_5'UTR|CHRNA10_uc010qxu.2_5'UTR	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	108					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	ACACAAGACTGCTGGGGATGC	0.567												
MICAL2	9645	broad.mit.edu	37	11	12241780	12241780	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr11:12241780G>A	uc001mjz.3	+	8	1269	c.981G>A	c.(979-981)gcG>gcA	p.A327A	MICAL2_uc010rch.1_Silent_p.A327A|MICAL2_uc001mka.3_Silent_p.A327A|MICAL2_uc010rci.2_Silent_p.A327A|MICAL2_uc001mkb.3_Silent_p.A327A|MICAL2_uc001mkc.3_Silent_p.A327A|MICAL2_uc001mkd.3_Silent_p.A156A|MICAL2_uc010rcj.2_5'Flank	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	327						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TGCTGTGTGCGGAGAACGTGA	0.527												
PYGM	5837	broad.mit.edu	37	11	64514249	64514249	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr11:64514249C>T	uc001oax.4	-	19	3228	c.2411G>A	c.(2410-2412)cGg>cAg	p.R804Q	RASGRP2_uc009ypu.3_5'Flank|RASGRP2_uc009ypv.3_5'Flank|RASGRP2_uc009ypw.3_5'Flank|RASGRP2_uc001oaw.1_5'Flank|PYGM_uc001oay.4_Missense_Mutation_p.R716Q	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	804					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GGCTATGTTCCGGATCACCAT	0.607												
PDGFD	80310	broad.mit.edu	37	11	103780460	103780460	+	Nonsense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr11:103780460G>A	uc001phq.3	-	6	1447	c.1075C>T	c.(1075-1077)Cga>Tga	p.R359*	PDGFD_uc001php.3_Nonsense_Mutation_p.R353*	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	Homo sapiens platelet derived growth factor D (PDGFD), transcript variant 1, mRNA.	359					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CAATCACATCGTTCATGGTGA	0.448												
NLRX1	79671	broad.mit.edu	37	11	119054075	119054075	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr11:119054075G>A	uc001pvu.3	+	9	3070	c.2855G>A	c.(2854-2856)cGc>cAc	p.R952H	NLRX1_uc001pvv.3_Intron|NLRX1_uc001pvw.3_Missense_Mutation_p.R952H|NLRX1_uc001pvx.3_Missense_Mutation_p.R952H|PDZD3_uc001pvz.3_5'Flank|PDZD3_uc010rzd.2_5'Flank|PDZD3_uc001pvy.3_5'Flank|PDZD3_uc001pwa.3_5'Flank|PDZD3_uc001pwb.3_5'Flank	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	952	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	p.R952H(2)		cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AATCCTTGGCGCAAGGCCCAG	0.637												
ARHGAP32	9743	broad.mit.edu	37	11	128910863	128910863	+	Missense_Mutation	SNP	T	T	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr11:128910863T>A	uc009zcp.3	-	9	963	c.963A>T	c.(961-963)caA>caT	p.Q321H	ARHGAP32_uc009zcq.2_Missense_Mutation_p.Q281H|ARHGAP32_uc001qfb.3_Missense_Mutation_p.Q106H	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	321	SH3.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGGGAACTTTTTGGTTAATTA	0.393												
KLRG1	10219	broad.mit.edu	37	12	9142272	9142272	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr12:9142272C>T	uc001qvh.3	+	0	52	c.41C>T	c.(40-42)aCg>aTg	p.T14M	KLRG1_uc001qvg.3_Missense_Mutation_p.T14M	NM_005810	NP_005801	Q96E93	KLRG1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily G, member 1 (KLRG1), mRNA.	14					cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						GAGTTGCCTACGGCAACCCAA	0.413												
KIF5A	3798	broad.mit.edu	37	12	57963411	57963411	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr12:57963411G>A	uc001sor.1	+	10	1270	c.1062G>A	c.(1060-1062)aaG>aaA	p.K354K	KIF5A_uc010srr.1_Silent_p.K265K	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	354					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						agaagacaaaggcccagaagg	0.532												
OS9	10956	broad.mit.edu	37	12	58109576	58109576	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr12:58109576G>A	uc001spj.3	+	5	820	c.613G>A	c.(613-615)Gac>Aac	p.D205N	OS9_uc010srx.2_Intron|OS9_uc001spk.3_Missense_Mutation_p.D205N|OS9_uc001spl.3_Missense_Mutation_p.D205N|OS9_uc001spm.3_Missense_Mutation_p.D205N|OS9_uc001spn.3_Missense_Mutation_p.D205N|OS9_uc010sry.2_Missense_Mutation_p.D172N|OS9_uc010srz.2_Missense_Mutation_p.D146N	NM_006812	NP_006803	Q13438	OS9_HUMAN	Homo sapiens osteosarcoma amplified 9, endoplasmic reticulum lectin (OS9), transcript variant 1, mRNA.	205					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TATCTCTGGGGACTACATCGA	0.542												
AVIL	10677	broad.mit.edu	37	12	58204641	58204641	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr12:58204641G>A	uc001sqj.2	-	4	545	c.516C>T	c.(514-516)atC>atT	p.I172I	AVIL_uc009zqe.2_Silent_p.I165I|AVIL_uc001sqk.1_5'Flank|AVIL_uc001sql.4_Silent_p.I149I|JA611266_uc021qzr.1_5'Flank	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	172	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CATTCCATTGGATGATGACTT	0.502												
LRIG3	121227	broad.mit.edu	37	12	59268350	59268351	+	Frame_Shift_Ins	INS	-	-	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr12:59268350_59268351insG	uc001sqr.3	-	16	2946_2947	c.2700_2701insC	c.(2698-2703)acctgcfs	p.T900fs	LRIG3_uc009zqh.3_Frame_Shift_Ins_p.T840fs|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	900						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TCAATATGGCAGGTCCCTTTGA	0.401			T	ROS1	NSCLC							
ACIN1	22985	broad.mit.edu	37	14	23564497	23564497	+	Translation_Start_Site	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:23564497G>A	uc001wit.4	-	0					ACIN1_uc010akg.3_5'UTR|ACIN1_uc010tnj.2_5'UTR|C14orf119_uc001wiu.3_5'Flank|C14orf119_uc021rqv.1_5'Flank	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.						apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCTCCACATCGTTACCAATCA	0.542												
MYH6	4624	broad.mit.edu	37	14	23857466	23857466	+	Silent	SNP	G	G	C			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:23857466G>C	uc001wjv.3	-	29	4328	c.4257C>G	c.(4255-4257)acC>acG	p.T1419T		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1419					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCGGTGCTTGGTCTTCTCCA	0.572												
KCNH5	27133	broad.mit.edu	37	14	63468087	63468087	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:63468087G>A	uc001xfx.3	-	3	446	c.395C>T	c.(394-396)aCg>aTg	p.T132M	KCNH5_uc001xfy.3_Missense_Mutation_p.T132M|KCNH5_uc001xfz.1_Missense_Mutation_p.T74M|KCNH5_uc001xga.3_Missense_Mutation_p.T74M	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	132	PAC.				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTTGAACAACGTAATATCCTT	0.343												
LTBP2	4053	broad.mit.edu	37	14	74971518	74971518	+	Silent	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:74971518C>T	uc001xqa.3	-	29	4803	c.4416G>A	c.(4414-4416)gtG>gtA	p.V1472V		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1472					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)		AGGCTCCTTCCACAGGAATGT	0.562												
STON2	85439	broad.mit.edu	37	14	81744722	81744722	+	Silent	SNP	T	T	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:81744722T>G	uc010tvu.2	-	3	1131	c.933A>C	c.(931-933)gcA>gcC	p.A311A	STON2_uc001xvk.1_Silent_p.A311A|STON2_uc010tvt.2_Silent_p.A108A	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	311					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AAGGGTTGGTTGCCCTCCAAG	0.498												
UNC79	57578	broad.mit.edu	37	14	94069684	94069684	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:94069684G>A	uc001ybv.1	+	22	3226	c.3143G>A	c.(3142-3144)cGt>cAt	p.R1048H	UNC79_uc001ybs.1_Missense_Mutation_p.R1048H	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1225						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						AAGAGTGTACGTTCCCTGAGG	0.527												
SERPINA12	145264	broad.mit.edu	37	14	94953697	94953697	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:94953697G>A	uc001ydj.3	-	5	1984	c.1188C>T	c.(1186-1188)agC>agT	p.S396S		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.	396					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GTATTTTCTCGCTGTAAATCA	0.527												
AHNAK2	113146	broad.mit.edu	37	14	105411658	105411658	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:105411658G>A	uc010axc.1	-	6	10250	c.10130C>T	c.(10129-10131)cCg>cTg	p.P3377L	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P3277L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3377						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTGGCCCTCCGGGAGCTTCAC	0.637												
SHC4	399694	broad.mit.edu	37	15	49217141	49217141	+	Missense_Mutation	SNP	C	C	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr15:49217141C>A	uc001zxb.1	-	1	1020	c.591G>T	c.(589-591)atG>atT	p.M197I		NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) family, member 4 (SHC4), mRNA.	197	PID.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		CAACACAGCCCATGTACTACA	0.413												
MYO5C	55930	broad.mit.edu	37	15	52537563	52537563	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr15:52537563G>A	uc010bff.3	-	17	2328	c.2166C>T	c.(2164-2166)caC>caT	p.H722H	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	722	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GGATGAGTCTGTGTAAAACCA	0.483												
CD276	80381	broad.mit.edu	37	15	73994767	73994767	+	Missense_Mutation	SNP	A	A	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr15:73994767A>G	uc002avv.1	+	2	485	c.251A>G	c.(250-252)gAc>gGc	p.D84G	CD276_uc010bjd.1_5'UTR|CD276_uc002avu.1_Missense_Mutation_p.D84G|CD276_uc002avw.1_Missense_Mutation_p.D84G|CD276_uc010ulb.1_Missense_Mutation_p.D30G	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA.	84	Ig-like V-type 1.				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						GAGGGCCAGGACCAGGGCAGC	0.647												
CIITA	4261	broad.mit.edu	37	16	11004047	11004047	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr16:11004047C>T	uc002daj.4	+	12	2955	c.2822C>T	c.(2821-2823)aCg>aTg	p.T941M	CIITA_uc002dai.4_Missense_Mutation_p.T940M|CIITA_uc002dak.4_Missense_Mutation_p.T356M|CIITA_uc010bup.1_Nonsense_Mutation_p.R337*	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	940			Missing (in BLS2).		interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CTCTCCAGGACGAGAAGTTCC	0.572			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """							
IL4R	3566	broad.mit.edu	37	16	27373866	27373866	+	Missense_Mutation	SNP	G	G	C			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr16:27373866G>C	uc002don.3	+	10	1435	c.1193G>C	c.(1192-1194)gGa>gCa	p.G398A	IL4R_uc002dop.4_Missense_Mutation_p.G383A|IL4R_uc010bxy.3_Missense_Mutation_p.G398A|IL4R_uc002doo.3_Missense_Mutation_p.G238A	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	398					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TTCCAGGAGGGAAGGGAGGGC	0.597												
ELMO3	79767	broad.mit.edu	37	16	67235531	67235531	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr16:67235531G>A	uc002esa.3	+	9	1106	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	ELMO3_uc002esb.3_Missense_Mutation_p.D338N|ELMO3_uc002esc.3_Missense_Mutation_p.D189N	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA.	302	ELMO.				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GACGCCCCTGGACCCCTACAG	0.612												
RLTPR	146206	broad.mit.edu	37	16	67681849	67681849	+	Silent	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr16:67681849C>T	uc002etn.3	+	12	1179	c.1059C>T	c.(1057-1059)tcC>tcT	p.S353S	RLTPR_uc010cel.1_Silent_p.S353S|RLTPR_uc010vjr.2_Silent_p.S353S	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	353										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TGGGGGCCTCCGAGGACAGTG	0.662												
TP53	7157	broad.mit.edu	37	17	7578555	7578555	+	Splice_Site	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr17:7578555C>T	uc002gim.2	-	5	570	c.376_splice	c.e5-1	p.Y126_splice	TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.3_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.2_Splice_Site_p.Y87_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	126	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		CAGGGGAGTACTGTAGGAAGA	0.552		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)		
TEX34	124783	broad.mit.edu	37	17	43332647	43332647	+	Missense_Mutation	SNP	C	C	T	rs144271763		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr17:43332647C>T	uc002iis.1	-	3	998	c.902G>A	c.(901-903)cGc>cAc	p.R301H	LOC100133991_uc010dah.3_Intron|TEX34_uc010wjk.1_Missense_Mutation_p.R280H	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN	Homo sapiens chromosome 17 open reading frame 46 (C17orf46), mRNA.	301																	TCTGGCTTCGCGTGGTTTCTC	0.567												
SCN4A	6329	broad.mit.edu	37	17	62034852	62034852	+	Silent	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr17:62034852C>T	uc002jds.1	-	12	2123	c.2046G>A	c.(2044-2046)tcG>tcA	p.S682S		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	682					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S682L(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GCGTTGGCCACGACTTGGCCA	0.592												
EVPL	2125	broad.mit.edu	37	17	74011625	74011625	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr17:74011625C>T	uc010wss.1	-	14	2089	c.1861G>A	c.(1861-1863)Gtg>Atg	p.V621M	EVPL_uc002jqi.2_Missense_Mutation_p.V599M|EVPL_uc010wst.1_Missense_Mutation_p.V69M	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	599	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCGGGGCCCACGGGCCGCGTG	0.647												
SLC14A2	8170	broad.mit.edu	37	18	43262345	43262345	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr18:43262345C>T	uc002lbe.3	+	19	3440	c.2624C>T	c.(2623-2625)aCg>aTg	p.T875M	SLC14A2_uc010dnj.3_Missense_Mutation_p.T875M	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	875						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGCTCCTGACGACCAATAAC	0.547												
MUC16	94025	broad.mit.edu	37	19	9033637	9033637	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr19:9033637G>A	uc002mkp.3	-	8	36504	c.36300C>T	c.(36298-36300)aaC>aaT	p.N12100N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12102	SEA 1.				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						TCTCTGTGGCGTTGAACTTCC	0.597												
ZNF439	90594	broad.mit.edu	37	19	11978931	11978931	+	Silent	SNP	T	T	C			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr19:11978931T>C	uc002mss.3	+	2	1175	c.1047T>C	c.(1045-1047)tcT>tcC	p.S349S	ZNF439_uc002msr.3_Silent_p.S213S	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	Homo sapiens zinc finger protein 439 (ZNF439), mRNA.	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						GAATGCACTCTGGAGAAAGAC	0.373												
SLC1A6	6511	broad.mit.edu	37	19	15083572	15083572	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr19:15083572G>A	uc002naa.1	-	0	158	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C	SLC1A6_uc010dzu.1_Missense_Mutation_p.R51C|SLC1A6_uc010xod.1_Missense_Mutation_p.A55V|SLC1A6_uc002nab.3_Missense_Mutation_p.R51C|SLC1A6_uc002nac.3_Missense_Mutation_p.R51C|SLC1A6_uc002nad.1_Missense_Mutation_p.R51C	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	51					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CGCAGGAAGCGCAGCACGTGC	0.677												
CYP2A13	1553	broad.mit.edu	37	19	41597756	41597756	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr19:41597756G>A	uc002opt.3	+	4	783	c.774G>A	c.(772-774)acG>acA	p.T258T		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	258					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	p.T258T(2)|p.R257C(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	ACCAGCGCACGCTGGATCCCA	0.587												
ATP1A3	478	broad.mit.edu	37	19	42489240	42489240	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr19:42489240C>T	uc002osh.3	-	7	977	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	ATP1A3_uc010xwf.2_Missense_Mutation_p.A286T|ATP1A3_uc010xwg.2_Missense_Mutation_p.A245T|ATP1A3_uc002osg.3_Missense_Mutation_p.A275T|ATP1A3_uc010xwh.2_Missense_Mutation_p.A288T			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	275					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						ATCTCGATGGCGATGGGCGTC	0.632												
ZNF324	25799	broad.mit.edu	37	19	58982200	58982200	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr19:58982200G>A	uc002qsw.2	+	3	486	c.341G>A	c.(340-342)gGt>gAt	p.G114D		NM_014347	NP_055162	O75467	Z324A_HUMAN	Homo sapiens zinc finger protein 324 (ZNF324), mRNA.	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G114D(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCTGTTGCCGGTGCCTGCCAC	0.567												
C2orf65	130951	broad.mit.edu	37	2	74842218	74842218	+	Missense_Mutation	SNP	T	T	C			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:74842218T>C	uc002smy.3	-	2	416	c.299A>G	c.(298-300)cAg>cGg	p.Q100R	C2orf65_uc010ysa.2_Missense_Mutation_p.Q100R|C2orf65_uc002smz.2_Missense_Mutation_p.Q100R	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.	100					chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	21						CCCTTCTCTCTGTAACATGCG	0.483												
IL18RAP	8807	broad.mit.edu	37	2	103039783	103039783	+	Nonsense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:103039783C>T	uc002tbx.3	+	2	530	c.46C>T	c.(46-48)Cga>Tga	p.R16*	IL18RAP_uc010fiz.3_5'UTR	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	16					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	p.R16Q(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TGCAGGAGAGCGAATTAAAGG	0.408												
ACOXL	55289	broad.mit.edu	37	2	111850527	111850527	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:111850527C>T	uc010yxk.1	+	16	1750	c.1526C>T	c.(1525-1527)aCg>aTg	p.T509M	ACOXL_uc021vmm.1_Missense_Mutation_p.T362M|ACOXL_uc021vmn.1_Missense_Mutation_p.T332M	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	539					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						ATGGCCAGCACGAGGATCAGG	0.483												
ABCA12	26154	broad.mit.edu	37	2	215855594	215855594	+	Silent	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:215855594C>T	uc002vew.3	-	23	3676	c.3456G>A	c.(3454-3456)tcG>tcA	p.S1152S	ABCA12_uc002vev.3_Silent_p.S834S|ABCA12_uc010zjn.2_Silent_p.S79S	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1152					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCTGTAGTCCGAAAAATACA	0.388												
GLB1L	79411	broad.mit.edu	37	2	220108249	220108249	+	Missense_Mutation	SNP	A	A	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:220108249A>T	uc002vkm.3	-	1	286	c.47T>A	c.(46-48)cTc>cAc	p.L16H	GLB1L_uc010zkx.2_Missense_Mutation_p.L16H|GLB1L_uc002vkn.3_Missense_Mutation_p.L16H|STK16_uc002vko.2_5'Flank|STK16_uc002vks.2_5'Flank|STK16_uc010zky.2_5'Flank|STK16_uc010fwf.3_5'Flank|STK16_uc002vkp.2_5'Flank	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN	Homo sapiens galactosidase, beta 1-like (GLB1L), mRNA.	16					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTCAGGCTGAGCGGCAGCAG	0.612												
ACSL3	2181	broad.mit.edu	37	2	223781199	223781199	+	Missense_Mutation	SNP	A	A	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:223781199A>G	uc002vni.3	+	4	992	c.541A>G	c.(541-543)Atg>Gtg	p.M181V	ACSL3_uc002vnj.3_Missense_Mutation_p.M181V	NM_004457	NP_976251	O95573	ACSL3_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 3 (ACSL3), transcript variant 1, mRNA.	181					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	GGCGTGTTTTATGTATAATTT	0.383			T	ETV1	prostate							
UGT1A1	54579	broad.mit.edu	37	2	234681031	234681031	+	Silent	SNP	C	C	T	rs28900406	byFrequency	TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:234681031C>T	uc002vuw.3	+	4	1431	c.1431C>T	c.(1429-1431)ccC>ccT	p.P477P	UGT1A1_uc002vup.3_Silent_p.P473P|UGT1A1_uc002vur.3_Silent_p.P473P|UGT1A1_uc002vus.3_Silent_p.P473P|UGT1A1_uc002vut.3_Silent_p.P473P|UGT1A1_uc002vuu.3_Silent_p.P208P|UGT1A1_uc002vuv.4_Silent_p.P475P|UGT1A1_uc002vux.3_Silent_p.P477P|UGT1A1_uc002vuy.3_Silent_p.P477P|UGT1A1_uc002vva.3_Non-coding_Transcript|UGT1A1_uc002vvb.3_Silent_p.P476P	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	476					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.A477S(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	ACCTGCGCCCCGCAGCCCACG	0.602												
KIF16B	55614	broad.mit.edu	37	20	16254013	16254013	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr20:16254013G>A	uc002wpg.2	-	25	3998	c.3839C>T	c.(3838-3840)aCa>aTa	p.T1280I	KIF16B_uc002wpe.1_Missense_Mutation_p.T632I|KIF16B_uc002wpf.1_Missense_Mutation_p.T621I|KIF16B_uc010gch.2_Missense_Mutation_p.T1229I	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	1280	PX.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.A1279P(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GAGGGGAGATGTTGCGGACTG	0.473												
SEC23B	10483	broad.mit.edu	37	20	18507120	18507120	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr20:18507120G>A	uc002wra.2	+	7	1399	c.938G>A	c.(937-939)cGt>cAt	p.R313H	SEC23B_uc010zsb.2_Missense_Mutation_p.R295H|SEC23B_uc002wrb.2_Missense_Mutation_p.R313H|SEC23B_uc002wqz.2_Missense_Mutation_p.R313H|SEC23B_uc002wrc.2_Missense_Mutation_p.R313H	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	313			R -> H.		ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						ATTCCTATTCGTTCTTGGCAT	0.458												
FAM83D	81610	broad.mit.edu	37	20	37555323	37555325	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr20:37555323_37555325delGCG	uc002xjg.3	+	0	369_371	c.328_330delGCG	c.(328-330)gcgdel	p.A116del	FAM83D_uc002xjf.3_In_Frame_Del_p.A116del	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA.	86					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AGAGGAGGGCgcggcggcggcgg	0.719												
SLC12A5	57468	broad.mit.edu	37	20	44674611	44674611	+	Missense_Mutation	SNP	A	A	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr20:44674611A>G	uc010zxl.1	+	12	1809	c.1733A>G	c.(1732-1734)gAc>gGc	p.D578G	SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.D555G	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	578					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.V578L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCATCCCTCGACGAGGTGGCC	0.597												
NFATC2	4773	broad.mit.edu	37	20	50159018	50159018	+	Silent	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr20:50159018C>T	uc002xwd.3	-	0	241	c.21G>A	c.(19-21)caG>caA	p.Q7Q	NFATC2_uc002xwc.3_Silent_p.Q7Q|NFATC2_uc010zyv.2_5'UTR|NFATC2_uc010zyw.2_5'UTR|NFATC2_uc002xwe.3_Intron|NFATC2_uc010zyx.2_Intron|NFATC2_uc010zyy.2_Intron|NFATC2_uc010zyz.2_Intron	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	7					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CGGGTTGGGGCTGCCGCTCGG	0.721												
OPRL1	4987	broad.mit.edu	37	20	62729401	62729401	+	Silent	SNP	C	C	T	rs143380233		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr20:62729401C>T	uc002yic.3	+	3	899	c.480C>T	c.(478-480)gaC>gaT	p.D160D	OPRL1_uc002yid.3_Silent_p.D160D|OPRL1_uc021wgs.1_Silent_p.D160D|OPRL1_uc002yif.4_Silent_p.D155D	NM_182647	NP_872588	P41146	OPRX_HUMAN	Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.	160					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GTGCCCTCGACGTCCGCACGT	0.587												
ITSN1	6453	broad.mit.edu	37	21	35231057	35231057	+	Missense_Mutation	SNP	A	A	C			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr21:35231057A>C	uc002yta.1	+	30	4119	c.3851A>C	c.(3850-3852)aAc>aCc	p.N1284T	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.N1279T|ITSN1_uc002ytj.2_Missense_Mutation_p.N1279T|ITSN1_uc010gmm.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1284	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ATTTTTGTGAACTGGAAGGAG	0.453												
IGSF5	150084	broad.mit.edu	37	21	41137664	41137664	+	Silent	SNP	C	C	T	rs145170006		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr21:41137664C>T	uc002yyo.3	+	2	406	c.303C>T	c.(301-303)ggC>ggT	p.G101G		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	Homo sapiens immunoglobulin superfamily, member 5 (IGSF5), mRNA.	101	Ig-like V-type 1.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				ACGACCAGGGCGGGAACTTCA	0.557												
ITGB2	3689	broad.mit.edu	37	21	46320382	46320382	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr21:46320382G>A	uc002zgd.2	-	5	794	c.750C>T	c.(748-750)atC>atT	p.I250I	ITGB2_uc002zgf.3_Silent_p.I250I|ITGB2_uc011afl.1_Silent_p.I172I|ITGB2_uc010gpw.2_Silent_p.I193I|ITGB2_uc002zgg.2_Silent_p.I250I	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	250	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TGCGCCAGCCGATTTCCTCCT	0.647												
SEC14L3	266629	broad.mit.edu	37	22	30856050	30856050	+	Silent	SNP	G	G	A	rs116181219	by1000genomes	TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr22:30856050G>A	uc003ahy.3	-	11	1250	c.1161C>T	c.(1159-1161)gaC>gaT	p.D387D	SEC14L3_uc003ahz.3_Silent_p.D310D|SEC14L3_uc003aia.3_Silent_p.D328D|SEC14L3_uc003aib.3_Silent_p.D328D	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	387						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	GCATGCCCTCGTCAGGGAGCA	0.502												
PES1	23481	broad.mit.edu	37	22	30980618	30980618	+	Missense_Mutation	SNP	T	T	C			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr22:30980618T>C	uc003aij.2	-	4	562	c.455A>G	c.(454-456)aAg>aGg	p.K152R	PES1_uc003aik.2_Missense_Mutation_p.K152R|PES1_uc003aio.1_Missense_Mutation_p.K13R|PES1_uc003ain.1_Missense_Mutation_p.K13R	NM_014303	NP_055118	O00541	PESC_HUMAN	Homo sapiens pescadillo homolog 1, containing BRCT domain (zebrafish) (PES1), transcript variant 1, mRNA.	152	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						CACGTGGCACTTGCCAGTCCG	0.612												
CYP8B1	1582	broad.mit.edu	37	3	42916203	42916203	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr3:42916203G>A	uc003cmh.3	-	0	1431	c.1106C>T	c.(1105-1107)tCc>tTc	p.S369F	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	369					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CTGCCCACTGGACATCTTCAG	0.592												
ACY1	95	broad.mit.edu	37	3	52020670	52020670	+	Silent	SNP	T	T	C			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr3:52020670T>C	uc003dcp.3	+	7	900	c.576T>C	c.(574-576)agT>agC	p.S192S	ACY1_uc011bea.2_Silent_p.S282S|ACY1_uc011beb.2_Silent_p.S192S|ACY1_uc003dcq.3_Silent_p.S192S|ACY1_uc021wzb.1_Silent_p.S157S|ACY1_uc021wzc.1_Silent_p.S120S|ACY1_uc021wzd.1_Silent_p.S192S	NM_000666	NP_001185824	Q03154	ACY1_HUMAN	Homo sapiens aminoacylase 1 (ACY1), transcript variant 1, mRNA.	192					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	GTGAGCGGAGTCCCTGGTGTA	0.567												
PIK3CA	5290	broad.mit.edu	37	3	178916881	178916881	+	Missense_Mutation	SNP	T	T	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr3:178916881T>G	uc003fjk.3	+	1	425	c.268T>G	c.(268-270)Tgt>Ggt	p.C90G		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	90	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AAGACGACTTTGTGACCTTCG	0.373		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)		
ABCC5	10057	broad.mit.edu	37	3	183679309	183679309	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr3:183679309G>A	uc003fmg.3	-	15	2534	c.2369C>T	c.(2368-2370)cCg>cTg	p.P790L	ABCC5_uc011bqt.2_Missense_Mutation_p.P318L|ABCC5_uc010hxl.3_Missense_Mutation_p.P790L	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	790						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.P790P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTCAACTGGCGGTGTCTCTCC	0.478												
RAB28	9364	broad.mit.edu	37	4	13481054	13481054	+	Nonsense_Mutation	SNP	C	C	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr4:13481054C>A	uc003gmu.2	-	2	387	c.172_splice	c.e2+1	p.G58_splice	RAB28_uc003gmv.2_Splice_Site|RAB28_uc003gmt.2_Splice_Site_p.G58_splice|RAB28_uc011bwz.1_Splice_Site_p.G58_splice	NM_001017979	NP_001017979	P51157	RAB28_HUMAN	Homo sapiens RAB28, member RAS oncogene family (RAB28), transcript variant 1, mRNA.	58					small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						AGTCTCTTACCTGGCAATGTT	0.328												
GABRA4	2557	broad.mit.edu	37	4	46966998	46966998	+	Missense_Mutation	SNP	C	C	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr4:46966998C>A	uc003gxg.3	-	7	2106	c.1123G>T	c.(1123-1125)Gcc>Tcc	p.A375S	GABRA4_uc021xnz.1_Missense_Mutation_p.A356S|GABRA4_uc021xoa.1_Missense_Mutation_p.A305S	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	375					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGCAGAGGGGCTTCAGGATGC	0.408												
CDH12	1010	broad.mit.edu	37	5	21817224	21817224	+	Missense_Mutation	SNP	C	C	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:21817224C>A	uc010iuc.2	-	5	1290	c.832G>T	c.(832-834)Gtt>Ttt	p.V278F	CDH12_uc011cno.1_Missense_Mutation_p.V238F|CDH12_uc003jgk.2_Missense_Mutation_p.V278F	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	278	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GACTCAGGAACTTTCAAGTGG	0.363										HNSCC(59;0.17)		
HEATR7B2	133558	broad.mit.edu	37	5	41049447	41049447	+	Missense_Mutation	SNP	A	A	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:41049447A>T	uc003jmj.4	-	13	1926	c.1436T>A	c.(1435-1437)aTg>aAg	p.M479K	HEATR7B2_uc003jmi.4_Missense_Mutation_p.M34K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	479							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CTCCTCTGCCATAATCAGAAT	0.463												
MAP1B	4131	broad.mit.edu	37	5	71494424	71494424	+	Missense_Mutation	SNP	G	G	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:71494424G>T	uc003kbw.4	+	4	5483	c.5242G>T	c.(5242-5244)Gat>Tat	p.D1748Y	MAP1B_uc010iyw.1_Missense_Mutation_p.D1765Y|MAP1B_uc010iyx.1_Missense_Mutation_p.D1622Y|MAP1B_uc010iyy.1_Missense_Mutation_p.D1622Y	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1748						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCTCCAAGAAGATACTCTATC	0.478												
LHFPL2	10184	broad.mit.edu	37	5	77784735	77784735	+	Silent	SNP	C	C	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:77784735C>G	uc003kfo.3	-	4	1348	c.672G>C	c.(670-672)ctG>ctC	p.L224L		NM_005779	NP_005770	Q6ZUX7	LHPL2_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 2 (LHFPL2), mRNA.	224						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		GGAGGCAGATCAGATTTTTCC	0.418												
PKD2L2	27039	broad.mit.edu	37	5	137257377	137257377	+	Missense_Mutation	SNP	C	C	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:137257377C>G	uc003lby.3	+	8	1437	c.1381C>G	c.(1381-1383)Caa>Gaa	p.Q461E	PKD2L2_uc003lbw.1_Missense_Mutation_p.Q461E|PKD2L2_uc003lbx.3_Intron|PKD2L2_uc011cyi.1_Missense_Mutation_p.Q69E	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	Homo sapiens polycystic kidney disease 2-like 2 (PKD2L2), mRNA.	461						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGGTATTCAGCAAGCCAATCC	0.308												
PCDHB18	54660	broad.mit.edu	37	5	140615968	140615968	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:140615968G>A	uc003ljc.1	+	0	2031	c.1683G>A	c.(1681-1683)ctG>ctA	p.L561L						Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA.											endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						AGCCCGGGCTGTTCGGCGTGT	0.697												
ODZ2	57451	broad.mit.edu	37	5	167551889	167551889	+	Silent	SNP	A	A	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:167551889A>G	uc010jjd.3	+	10	2043	c.2043A>G	c.(2041-2043)ggA>ggG	p.G681G	ODZ2_uc003lzr.4_Silent_p.G449G|ODZ2_uc003lzt.4_Silent_p.G45G|ODZ2_uc010jje.3_5'UTR	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CCAGCCACGGAGTCTGTGTGA	0.512												
TRIM10	10107	broad.mit.edu	37	6	30126364	30126364	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:30126364C>T	uc003npo.3	-	2	644	c.568G>A	c.(568-570)Gca>Aca	p.A190T	TRIM10_uc003npn.2_Missense_Mutation_p.A190T	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	190						cytoplasm	zinc ion binding	p.A190T(1)		ovary(1)	1						CTCAGGTGTGCGAACTCAGAA	0.512												
TAP2	6891	broad.mit.edu	37	6	32782142	32782142	+	Missense_Mutation	SNP	G	G	C			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:32782142G>C	uc011dqf.1	-	13	2541	c.2419C>G	c.(2419-2421)Ctt>Gtt	p.L807V	TAP2_uc003oca.3_Missense_Mutation_p.L200V|TAP2_uc011dqg.1_Missense_Mutation_p.L200V	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	0					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										TGATCGACAAGGCAGGTGTAG	0.502												
DNAH8	1769	broad.mit.edu	37	6	38840400	38840400	+	Missense_Mutation	SNP	A	A	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:38840400A>G	uc021yzh.1	+	49	7188	c.7079A>G	c.(7078-7080)aAg>aGg	p.K2360R	DNAH8_uc003ooe.2_Missense_Mutation_p.K2143R	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTCTAATGAAGGCGCAAACA	0.453												
KCNK5	8645	broad.mit.edu	37	6	39159464	39159464	+	Silent	SNP	C	C	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:39159464C>A	uc003oon.3	-	4	1066	c.702G>T	c.(700-702)ggG>ggT	p.G234G		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	234					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GCCAGGCCAGCCCCAAGTAGA	0.577												
LRFN2	57497	broad.mit.edu	37	6	40360425	40360425	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:40360425C>T	uc003oph.1	-	2	2092	c.1627G>A	c.(1627-1629)Gtg>Atg	p.V543M		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	543						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCGTGGCCACGATGATGCCC	0.607												
TREML1	340205	broad.mit.edu	37	6	41121571	41121571	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:41121571C>T	uc011duc.2	-	1	345	c.301G>A	c.(301-303)Gag>Aag	p.E101K	TREML1_uc003opx.3_Missense_Mutation_p.E101K|TREML1_uc011dud.2_Intron	NM_178174	NP_835468	Q86YW5	TRML1_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 1 (TREML1), mRNA.	101	Ig-like V-type.				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAGCCATACTCGCCAGCATCC	0.602												
TDRD6	221400	broad.mit.edu	37	6	46658201	46658201	+	Missense_Mutation	SNP	C	C	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:46658201C>G	uc003oyj.3	+	0	2590	c.2336C>G	c.(2335-2337)tCt>tGt	p.S779C	TDRD6_uc010jze.3_Missense_Mutation_p.S779C	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	779					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTCAGAGTGTCTTATGTTGAA	0.388												
KIF25	3834	broad.mit.edu	37	6	168443352	168443352	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:168443352C>T	uc003qwk.1	+	7	1203	c.941C>T	c.(940-942)cCg>cTg	p.P314L	KIF25_uc003qwl.1_Intron	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	314					microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.P314P(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGCCATGCCCCGTACCGGAAC	0.652												
ZDHHC4	55146	broad.mit.edu	37	7	6628405	6628405	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr7:6628405G>A	uc003sqi.3	+	8	1257	c.899G>A	c.(898-900)cGt>cAt	p.R300H	ZDHHC4_uc003sql.3_Missense_Mutation_p.R300H|ZDHHC4_uc003sqj.3_Missense_Mutation_p.R300H|ZDHHC4_uc003sqh.3_Missense_Mutation_p.R300H|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN	Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.	300						integral to membrane	acyltransferase activity|zinc ion binding	p.R300H(4)|p.Q299*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TGGTGCCAGCGTTGTCCCCTT	0.577												
GHRHR	2692	broad.mit.edu	37	7	31014610	31014610	+	Silent	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr7:31014610C>T	uc003tbx.3	+	8	885	c.837C>T	c.(835-837)tcC>tcT	p.S279S	GHRHR_uc003tby.3_Silent_p.S215S|GHRHR_uc003tbz.3_Missense_Mutation_p.P46S	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	279					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	ACGACACCTCCCCCTACTGGT	0.587											OREG0017943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SAMD9L	219285	broad.mit.edu	37	7	92765183	92765183	+	Silent	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr7:92765183C>T	uc003umh.1	-	4	1318	c.102G>A	c.(100-102)ggG>ggA	p.G34G	SAMD9L_uc003umj.1_Silent_p.G34G|SAMD9L_uc003umi.1_Silent_p.G34G|SAMD9L_uc010lfb.1_Silent_p.G34G|SAMD9L_uc003umk.1_Silent_p.G34G|SAMD9L_uc010lfc.1_Silent_p.G34G|SAMD9L_uc010lfd.1_Silent_p.G34G|SAMD9L_uc022ahh.1_Silent_p.G34G	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	34	SAM.									central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GCAGAATTTGCCCGTATTGCT	0.403												
CNTNAP2	26047	broad.mit.edu	37	7	147844679	147844679	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr7:147844679G>A	uc003weu.2	+	16	3167	c.2651G>A	c.(2650-2652)cGg>cAg	p.R884Q		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	884	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.R884W(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGTGGCACCGGGTCACTGCA	0.582										HNSCC(39;0.1)		
UBE3C	9690	broad.mit.edu	37	7	156963055	156963055	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr7:156963055G>A	uc010lqs.3	+	3	565	c.253G>A	c.(253-255)Gct>Act	p.A85T	UBE3C_uc003wnf.2_Missense_Mutation_p.A42T|UBE3C_uc003wng.2_Missense_Mutation_p.A85T	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	85					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	p.G84G(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GTCCGGGGGCGCTTTTCCCAT	0.398												
ADAM28	10863	broad.mit.edu	37	8	24199261	24199261	+	Silent	SNP	C	C	T	rs149263503	byFrequency	TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr8:24199261C>T	uc003xdy.3	+	15	1904	c.1821C>T	c.(1819-1821)ggC>ggT	p.G607G	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.G294G	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	607	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.G607G(3)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CTAAGTGTGGCGATAACAAGG	0.408												
PXDNL	137902	broad.mit.edu	37	8	52387699	52387699	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr8:52387699C>T	uc003xqu.4	-	6	628	c.527G>A	c.(526-528)cGt>cAt	p.R176H		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	176					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGAATCCAGACGCCTAGGCAT	0.468												
NDUFAF6	137682	broad.mit.edu	37	8	96047748	96047748	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr8:96047748G>A	uc003yhj.3	+	2	387	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	NDUFAF6_uc011lgs.2_Non-coding_Transcript|NDUFAF6_uc003yhi.3_Missense_Mutation_p.E70K|NDUFAF6_uc003yhk.3_Non-coding_Transcript	NM_152416	NP_689629	Q330K2	CH038_HUMAN	Homo sapiens chromosome 8 open reading frame 38 (C8orf38), nuclear gene encoding mitochondrial protein, mRNA.	122					biosynthetic process	mitochondrion	transferase activity										AAAAACTGTGGAAGATATATA	0.328												
PKHD1L1	93035	broad.mit.edu	37	8	110454293	110454293	+	Missense_Mutation	SNP	C	C	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr8:110454293C>A	uc003yne.3	+	34	4366	c.4262C>A	c.(4261-4263)aCa>aAa	p.T1421K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1421	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTGGGGGACACAGTGGCATGG	0.418										HNSCC(38;0.096)		
DEPTOR	64798	broad.mit.edu	37	8	120977651	120977651	+	Splice_Site	SNP	G	G	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr8:120977651G>T	uc003yow.4	+	4	791	c.604_splice	c.e4+1	p.V202_splice	DEPTOR_uc011lid.2_Splice_Site_p.V101_splice	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	Homo sapiens DEP domain containing MTOR-interacting protein (DEPTOR), mRNA.	202	DEP 2.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						ATCCAGCATGGTGAGCgtatt	0.507												
ADCY8	114	broad.mit.edu	37	8	132002709	132002709	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr8:132002709C>T	uc003ytd.4	-	1	1296	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	ADCY8_uc010mds.3_Missense_Mutation_p.R347H	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	347					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GAAAGCTTGGCGCTGGGCCCG	0.522										HNSCC(32;0.087)		
ACO1	48	broad.mit.edu	37	9	32430435	32430435	+	Missense_Mutation	SNP	G	G	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr9:32430435G>T	uc003zqw.4	+	13	1744	c.1589G>T	c.(1588-1590)gGa>gTa	p.G530V	ACO1_uc010mjh.1_Missense_Mutation_p.G364V|ACO1_uc003zqx.4_Missense_Mutation_p.G530V|ACO1_uc003zqy.4_Non-coding_Transcript	NM_002197	NP_002188	P21399	ACOC_HUMAN	Homo sapiens aconitase 1, soluble (ACO1), mRNA.	530					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GTAGCTGTTGGAGTACTATCT	0.453												
DAPK1	1612	broad.mit.edu	37	9	90220082	90220082	+	Silent	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr9:90220082C>T	uc004apc.3	+	2	414	c.276C>T	c.(274-276)atC>atT	p.I92I	DAPK1_uc004ape.3_Silent_p.I92I|DAPK1_uc004apd.3_Silent_p.I92I|DAPK1_uc011ltg.2_Silent_p.I92I|DAPK1_uc011lth.2_5'UTR	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	92	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TCATCCTGATCTTGGAACTGT	0.612									Chronic Lymphocytic Leukemia, Familial Clustering of			
SNX30	401548	broad.mit.edu	37	9	115580093	115580093	+	Missense_Mutation	SNP	C	C	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr9:115580093C>G	uc004bgj.4	+	2	605	c.457C>G	c.(457-459)Ccc>Gcc	p.P153A		NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	Homo sapiens sorting nexin family member 30 (SNX30), mRNA.	153	PX.				cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TCATCTCATTCCCGTAGGTAG	0.458												
OR1J1	347168	broad.mit.edu	37	9	125239495	125239495	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr9:125239495G>A	uc011lyu.2	-	0	711	c.711C>T	c.(709-711)gcC>gcT	p.A237A	OR1J2_uc004bmj.2_Intron	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						AAGTGGACAAGGCTTTGCATA	0.468												
SDCCAG3	10807	broad.mit.edu	37	9	139299619	139299619	+	Missense_Mutation	SNP	A	A	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr9:139299619A>G	uc004chi.3	-	6	1134	c.929T>C	c.(928-930)aTg>aCg	p.M310T	SDCCAG3_uc004chj.3_Missense_Mutation_p.M287T|SDCCAG3_uc004chk.3_Missense_Mutation_p.M237T	NM_001039707	NP_001034796	Q96C92	SDCG3_HUMAN	Homo sapiens serologically defined colon cancer antigen 3 (SDCCAG3), transcript variant 1, mRNA.	310						cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		CTCCTTGATCATTTTTGCTTC	0.463												
MXRA5	25878	broad.mit.edu	37	X	3235173	3235173	+	Silent	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:3235173C>T	uc004crg.4	-	5	6706	c.6549G>A	c.(6547-6549)ccG>ccA	p.P2183P		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2183	Ig-like C2-type 6.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCCTCTTGGACGGCAGCCTCC	0.637												
TLR7	51284	broad.mit.edu	37	X	12905182	12905182	+	Missense_Mutation	SNP	C	C	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:12905182C>A	uc004cvc.3	+	2	1694	c.1555C>A	c.(1555-1557)Ctc>Atc	p.L519I		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	519					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TCTTTCTTTCCTCAAATGCCT	0.378												
DDX53	168400	broad.mit.edu	37	X	23019720	23019720	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:23019720G>A	uc004daj.3	+	0	1643	c.1546G>A	c.(1546-1548)Gga>Aga	p.G516R		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.	516	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						CTTTAAAAGCGGAAACATAAA	0.373												
CXorf21	80231	broad.mit.edu	37	X	30577750	30577750	+	Silent	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:30577750C>T	uc022bui.1	-	0	723	c.723G>A	c.(721-723)gcG>gcA	p.A241A	CXorf21_uc004dcg.2_Silent_p.A241A	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN	Homo sapiens chromosome X open reading frame 21 (CXorf21), mRNA.	241								p.A241E(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						TGAGTTCAGACGCCAGAATCT	0.438												
GRIPAP1	56850	broad.mit.edu	37	X	48839756	48839756	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:48839756G>A	uc004dly.1	-	15	1404	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	GRIPAP1_uc004dlz.3_Missense_Mutation_p.R347W|GRIPAP1_uc004dma.3_Missense_Mutation_p.R404W	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	Homo sapiens GRIP1 associated protein 1 (GRIPAP1), transcript variant 1, mRNA.	457						early endosome		p.M456V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TTCTCATGCCGTAGACGAACT	0.597												
ITIH6	347365	broad.mit.edu	37	X	54785423	54785423	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:54785423C>T	uc004dtj.2	-	7	1114	c.1084G>A	c.(1084-1086)Gtc>Atc	p.V362I		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	362	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										GCTGAGTTGACGTCTGTCCCT	0.547												
ZXDA	7789	broad.mit.edu	37	X	57936065	57936065	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:57936065C>T	uc004dve.3	-	0	1003	c.790G>A	c.(790-792)Gtg>Atg	p.V264M		NM_007156	NP_009087	P98168	ZXDA_HUMAN	Homo sapiens zinc finger, X-linked, duplicated A (ZXDA), mRNA.	264					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TACAGCACCACGCCTGGACCA	0.726												
TAF1	6872	broad.mit.edu	37	X	70613222	70613222	+	Silent	SNP	A	A	C			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:70613222A>C	uc004dzu.4	+	20	3171	c.3120A>C	c.(3118-3120)ggA>ggC	p.G1040G	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Silent_p.G1061G|TAF1_uc004dzv.4_Silent_p.G214G	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	1040					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CTCGTTCTGGAGAGGGGCCCA	0.468												
ABCB7	22	broad.mit.edu	37	X	74291376	74291376	+	Missense_Mutation	SNP	A	A	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:74291376A>T	uc004ebz.3	-	8	1203	c.1178T>A	c.(1177-1179)aTa>aAa	p.I393K	ABCB7_uc010nlt.3_Missense_Mutation_p.I352K|ABCB7_uc004eca.3_Missense_Mutation_p.I392K|ABCB7_uc011mqn.2_Missense_Mutation_p.I366K|ABCB7_uc010nls.3_Missense_Mutation_p.I353K	NM_004299	NP_004290	O75027	ABCB7_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), nuclear gene encoding mitochondrial protein, mRNA.	392	ABC transmembrane type-1.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GAGCACCATTATAGCTGTTAA	0.388												
RPL36A-HNRNPH2	6173	broad.mit.edu	37	X	100646453	100646453	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:100646453G>A	uc022cag.1	+	1	164	c.118G>A	c.(118-120)Gtc>Atc	p.V40I	RPL36A-HNRNPH2_uc022cah.1_Missense_Mutation_p.V40I|BTK_uc010nno.2_5'Flank|RPL36A-HNRNPH2_uc004ehj.2_Missense_Mutation_p.V40I|RPL36A-HNRNPH2_uc004ehk.3_Missense_Mutation_p.V4I	NM_001199973	NP_001186902			Homo sapiens RPL36A-HNRNPH2 readthrough (RPL36A-HNRNPH2), transcript variant 1, mRNA.																		CTAGGTTAACGTCCCTAAAAC	0.498												
KIAA1210	57481	broad.mit.edu	37	X	118238988	118238988	+	Missense_Mutation	SNP	C	C	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:118238988C>A	uc004era.4	-	6	1035	c.1035G>T	c.(1033-1035)aaG>aaT	p.K345N		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	345										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GTGGTAAAGCCTTCTTTTGTG	0.418												
FRMD7	90167	broad.mit.edu	37	X	131219611	131219611	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:131219611G>A	uc004ewn.3	-	6	821	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	FRMD7_uc022cdy.1_Missense_Mutation_p.R95W|FRMD7_uc011muy.2_Missense_Mutation_p.R200W	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	215	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GATTTTACCCGTAACACCAGT	0.512												
ATP2B3	492	broad.mit.edu	37	X	152818620	152818620	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:152818620C>T	uc004fht.1	+	10	2077	c.1951C>T	c.(1951-1953)Cgg>Tgg	p.R651W	ATP2B3_uc004fhs.1_Missense_Mutation_p.R651W	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	651					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATCGCCTACCGGGACTTCTC	0.632