Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PRKCE	5581	broad.mit.edu	37	2	46372340	46372340	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:46372340C>T	ENST00000306156.3	+	12	2028	c.1701C>T	c.(1699-1701)ttC>ttT	p.F567F		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	567	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CCACCACGTTCTGTGGGACTC	0.552000													5	61					0	0	0.001168	0	0
OR5B2	390190	broad.mit.edu	37	11	58190129	58190129	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:58190129G>A	ENST00000302581.2	-	1	657	c.606C>T	c.(604-606)agC>agT	p.S202S		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGATATTAAAGCTTGACATAA	0.373000													5	17					0	0	0.000602	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994653	140994653	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:140994653C>T	ENST00000285879.4	+	4	1749	c.1463C>T	c.(1462-1464)tCc>tTc	p.S488F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	488							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCCTCCTCCTCCACTTTA	0.483000										HNSCC(15;0.026)			7	116					0	0	0.003080	0	0
P2RX1	5023	broad.mit.edu	37	17	3806913	3806913	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:3806913G>A	ENST00000225538.3	-	6	811	c.537C>T	c.(535-537)ctC>ctT	p.L179L		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	179					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CGGCCTCTCGGAGAAGGGCAG	0.607000													5	23					0	0	0.000602	0	0
STON1	11037	broad.mit.edu	37	2	48809499	48809499	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:48809499C>T	ENST00000309835.3	+	1	1737	c.1727C>T	c.(1726-1728)tCg>tTg	p.S576L	STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.S576L|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.S576L|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.S576L|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.S576L|STON1_ENST00000406226.1_Missense_Mutation_p.S576L|STON1_ENST00000404752.1_Missense_Mutation_p.S576L|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.S576L					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCTGTCCCATCGCAGTGGATC	0.493000													7	64					0	0	0.001984	0	0
CYP2E1	1571	broad.mit.edu	37	10	135352316	135352316	+	Missense_Mutation	SNP	C	C	T	rs140969399		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:135352316C>T	ENST00000463117.2	+	11	1602	c.1330C>T	c.(1330-1332)Cgc>Tgc	p.R444C	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.R444C			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	444					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	AGGCCTGGCTCGCATGGAGTT	0.448000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				7	84					0	0	0.001984	0	0
RBM19	9904	broad.mit.edu	37	12	114386828	114386828	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:114386828G>A	ENST00000545145.2	-	10	1164	c.1086C>T	c.(1084-1086)atC>atT	p.I362I	RBM19_ENST00000392561.3_Silent_p.I362I|RBM19_ENST00000261741.5_Silent_p.I362I	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	362	RRM 2.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TGAACACCTCGATGTAGCGCC	0.567000													6	42					0	0	0.001984	0	0
IFNA7	3444	broad.mit.edu	37	9	21201699	21201699	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:21201699C>T	ENST00000239347.3	-	1	505	c.466G>A	c.(466-468)Gag>Aag	p.E156K		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	156					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TATTTCTTCTCCATTAGATAA	0.433000													15	127					0	0	0.004990	0	0
DNAH6	1768	broad.mit.edu	37	2	84811238	84811238	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:84811238C>T	ENST00000389394.3	+	15	2482	c.2345C>T	c.(2344-2346)tCc>tTc	p.S782F	DNAH6_ENST00000398278.2_Missense_Mutation_p.S782F|DNAH6_ENST00000237449.6_Missense_Mutation_p.S782F	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	782	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATGAAGCCATCCATTGTTGCT	0.398000													9	74					0	0	0.000443	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563277	140563277	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:140563277G>A	ENST00000361016.2	+	1	2298	c.1143G>A	c.(1141-1143)acG>acA	p.T381T		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		381	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGGGAAGACGATTTCCTCCA	0.488000													5	41					0	0	0.000602	0	0
GK	2710	broad.mit.edu	37	X	30714753	30714753	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:30714753G>A	ENST00000378943.3	+	8	861	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	GK_ENST00000378945.3_Missense_Mutation_p.E228K|GK_ENST00000378946.3_Missense_Mutation_p.E228K|GK_ENST00000427190.1_Missense_Mutation_p.E23K	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	228					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						AATTCCAATGGAAATTCTTCC	0.289000													7	66					0	0	0.000443	0	0
FAM47A	158724	broad.mit.edu	37	X	34148532	34148532	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:34148532C>T	ENST00000346193.3	-	1	1915	c.1864G>A	c.(1864-1866)Gaa>Aaa	p.E622K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	622										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ATGGATTCTTCATCAGCTCCC	0.438000													8	45					0	0	0.000443	0	0
HTR2A	3356	broad.mit.edu	37	13	47469888	47469888	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr13:47469888G>A	ENST00000378688.4	-	1	285	c.154C>T	c.(154-156)Cga>Tga	p.R52*	HTR2A_ENST00000542664.1_Nonsense_Mutation_p.R52*|HTR2A_ENST00000543956.1_Intron			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	52					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AGGTTGGTTCGATTTTCAGAG	0.443000													6	49					0	0	0.001984	0	0
FAT4	79633	broad.mit.edu	37	4	126329778	126329778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:126329778C>T	ENST00000394329.3	+	4	5762	c.5749C>T	c.(5749-5751)Cga>Tga	p.R1917*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.R215*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1917	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCTCACTGTTCGAGCAGAAGA	0.343000													4	27					0	0	0.000602	0	0
AFF2	2334	broad.mit.edu	37	X	148037568	148037568	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:148037568G>A	ENST00000370460.2	+	11	2472	c.1993G>A	c.(1993-1995)Gac>Aac	p.D665N	AFF2_ENST00000286437.5_Missense_Mutation_p.D306N|AFF2_ENST00000342251.3_Missense_Mutation_p.D632N|AFF2_ENST00000370457.5_Missense_Mutation_p.D632N	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	665					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGCTTCATGACCCACCAAG	0.488000													7	79					0	0	0.003080	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18435178	18435178	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:18435178G>A	ENST00000433979.1	+	2	279	c.163G>A	c.(163-165)Gag>Aag	p.E55K	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E55K|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.E55K|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.E55K|RERGL_ENST00000541632.1_Intron	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	55					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TCCACACTACGAGAGTGAAAT	0.398000													4	20					0	0	0.001168	0	0
BEX1	55859	broad.mit.edu	37	X	102317848	102317848	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:102317848C>T	ENST00000372728.3	-	3	594	c.355G>A	c.(355-357)Gat>Aat	p.D119N		NM_018476.3	NP_060946.3	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	119					cell differentiation|nervous system development	cytoplasm|nucleus				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						CAAAACTCATCATGATGGTCA	0.488000													7	60					0	0	0.003080	0	0
SH3BP5	9467	broad.mit.edu	37	3	15311262	15311262	+	Silent	SNP	G	G	A	rs146498241		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:15311262G>A	ENST00000383791.3	-	4	673	c.453C>T	c.(451-453)ttC>ttT	p.F151F	SH3BP5_ENST00000253688.5_5'UTR|SH3BP5_ENST00000408919.3_5'UTR|SH3BP5_ENST00000426925.1_5'UTR	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	151					intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						AGGCGGAGTCGAACTGCCGCT	0.657000													5	63					0	0	0.000602	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716078	13716078	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:13716078T>C	ENST00000279593.3	-	13	4303	c.4094A>G	c.(4093-4095)aAc>aGc	p.N1365S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1365					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCCGGGGTTGTTGTGGTGGTG	0.592000													5	29					0	0	0.000602	0	0
DMBT1	1755	broad.mit.edu	37	10	124358479	124358479	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:124358479G>A	ENST00000338354.3	+	26	3252	c.3146G>A	c.(3145-3147)gGt>gAt	p.G1049D	DMBT1_ENST00000368955.3_Missense_Mutation_p.G1039D|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1049D|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Missense_Mutation_p.G550D|DMBT1_ENST00000368956.2_Missense_Mutation_p.G550D|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1039D			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1049	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCCCGGTTTGGTCAGGGCTCA	0.597000													7	65					0	0	0.001984	0	0
COL7A1	1294	broad.mit.edu	37	3	48623789	48623789	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:48623789G>T	ENST00000328333.8	-	26	3633	c.3526C>A	c.(3526-3528)Ccc>Acc	p.P1176T	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1176T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1176	Nonhelical region (NC1).|VWFA 2.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCACGGATGGGGCTGAATATG	0.582000													8	86					0.000157383	0.000322531	0.003080	1	0
CACNA2D3	55799	broad.mit.edu	37	3	54930800	54930800	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:54930800G>A	ENST00000474759.1	+	26	2319	c.2271G>A	c.(2269-2271)aaG>aaA	p.K757K	CACNA2D3_ENST00000288197.5_Silent_p.K757K|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000490478.1_Silent_p.K663K|CACNA2D3_ENST00000415676.2_Silent_p.K757K	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	757						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CTGGCGACAAGGAGAACATTT	0.522000													6	71					0	0	0.003080	0	0
HTATSF1	27336	broad.mit.edu	37	X	135593942	135593942	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:135593942G>A	ENST00000535601.1	+	10	2460	c.2038G>A	c.(2038-2040)Gaa>Aaa	p.E680K	HTATSF1_ENST00000218364.4_Missense_Mutation_p.E680K	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	680	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AGATGACAAGGAAGATGAAGA	0.413000													6	36					0	0	0.001984	0	0
PKP2	5318	broad.mit.edu	37	12	33031321	33031321	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:33031321C>T	ENST00000340811.4	-	3	601	c.493G>A	c.(493-495)Gat>Aat	p.D165N	PKP2_ENST00000070846.6_Missense_Mutation_p.D165N	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	165					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TACTGGTAATCGCTGTGCGTG	0.597000													6	57					0	0	0.001168	0	0
OR2A2	442361	broad.mit.edu	37	7	143807335	143807335	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:143807335C>T	ENST00000408979.2	+	1	729	c.660C>T	c.(658-660)atC>atT	p.I220I		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ACATGCACATCCTCGGGGCCA	0.522000													5	32					0	0	0.000602	0	0
DLX2	1746	broad.mit.edu	37	2	172966262	172966262	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:172966262G>A	ENST00000234198.4	-	2	874	c.513C>T	c.(511-513)ttC>ttT	p.F171F	DLX2_ENST00000466293.2_Silent_p.F171F	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	171						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GAGTCTTTTGGAAACGCCGCT	0.612000													5	22					0	0	0.000602	0	0
SPEN	23013	broad.mit.edu	37	1	16255609	16255609	+	Silent	SNP	T	T	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:16255609T>C	ENST00000375759.3	+	11	3078	c.2874T>C	c.(2872-2874)ctT>ctC	p.L958L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	958					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAGGCAGGCTTAAAGCCAGGA	0.488000													6	70					0	0	0.001984	0	0
SEMA3E	9723	broad.mit.edu	37	7	83031976	83031976	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:83031976C>T	ENST00000307792.3	-	10	1582	c.1115G>A	c.(1114-1116)gGa>gAa	p.G372E	SEMA3E_ENST00000427262.1_Missense_Mutation_p.G312E	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	372	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AGGGACTTTTCCTTCATAGAC	0.368000													6	20					0	0	0.004482	0	0
KRT15	3866	broad.mit.edu	37	17	39670283	39670283	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:39670283C>T	ENST00000254043.3	-	8	4948	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	KRT15_ENST00000393981.3_3'UTR|KRT15_ENST00000393974.3_Missense_Mutation_p.E290K|KRT15_ENST00000393976.2_Missense_Mutation_p.E455K	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	455	Tail.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ACTTAGATTTCTCTCTTGTGG	0.517000													7	59					0	0	0.000673	0	0
ANK3	288	broad.mit.edu	37	10	61832672	61832672	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:61832672C>T	ENST00000280772.1	-	37	8158	c.7967G>A	c.(7966-7968)gGa>gAa	p.G2656E	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2656					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAAGCCTTGTCCATCAGGGCC	0.557000													4	27					0	0	0.000248	0	0
ASMT	438	broad.mit.edu	37	X	1755428	1755428	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:1755428G>A	ENST00000381241.3	+	8	1084	c.885G>A	c.(883-885)gaG>gaA	p.E295E	ASMT_ENST00000381233.3_Silent_p.E220E|ASMT_ENST00000381229.4_Silent_p.E267E	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	267					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACCTGCTGGAGAGGATCTACC	0.527000													10	149					0	0	0.000673	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50462044	50462044	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:50462044C>T	ENST00000447370.2	-	7	1309	c.1219G>A	c.(1219-1221)Gga>Aga	p.G407R	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.G407R	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	407	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		ACGGTCTGTCCCCACCGGGTC	0.682000													4	47					0	0	0.000248	0	0
CDON	50937	broad.mit.edu	37	11	125893356	125893356	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:125893356C>A	ENST00000392693.3	-	2	143	c.16G>T	c.(16-18)Gga>Tga	p.G6*	CDON_ENST00000263577.7_Nonsense_Mutation_p.G6*	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	6					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CATAAGGGTCCAAGATCCGGA	0.443000													5	47					0.00307968	0.00624708	0.003080	1	0
CHRNB4	1143	broad.mit.edu	37	15	78921816	78921816	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:78921816G>A	ENST00000261751.3	-	5	942	c.831C>T	c.(829-831)ttC>ttT	p.F277F	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	277					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						TGAGCAGCAGGAAGAATGTCA	0.567000													5	42					0	0	0.000602	0	0
ICK	22858	broad.mit.edu	37	6	52876895	52876895	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:52876895G>A	ENST00000356971.3	-	11	1772	c.1283C>T	c.(1282-1284)cCa>cTa	p.P428L	ICK_ENST00000350082.5_Missense_Mutation_p.P428L	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	428					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					GCTGAGGGATGGACTGAAATC	0.453000													4	39					0	0	0.000602	0	0
DYSF	8291	broad.mit.edu	37	2	71795188	71795188	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:71795188G>A	ENST00000258104.3	+	25	2896	c.2619G>A	c.(2617-2619)ggG>ggA	p.G873G	DYSF_ENST00000409651.1_Silent_p.G905G|DYSF_ENST00000409744.1_Silent_p.G860G|DYSF_ENST00000410020.3_Silent_p.G891G|DYSF_ENST00000409582.3_Silent_p.G890G|DYSF_ENST00000429174.2_Silent_p.G873G|DYSF_ENST00000413539.2_Silent_p.G904G|DYSF_ENST00000409366.1_Silent_p.G874G|DYSF_ENST00000410041.1_Silent_p.G891G|DYSF_ENST00000409762.1_Silent_p.G890G|DYSF_ENST00000394120.2_Silent_p.G874G	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	873						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTGCTGAGGGGAAGCTGTCTG	0.592000													7	44					0	0	0.003080	0	0
OR10J3	441911	broad.mit.edu	37	1	159283514	159283514	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:159283514G>A	ENST00000332217.5	-	1	935	c.936C>T	c.(934-936)tcC>tcT	p.S312S		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TCTTCATTAAGGAGACAGAGT	0.418000													4	39					0	0	0.000248	0	0
GCK	2645	broad.mit.edu	37	7	44189392	44189392	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:44189392C>T	ENST00000403799.3	-	6	1115	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	GCK_ENST00000345378.2_Missense_Mutation_p.E217K|GCK_ENST00000437084.1_Missense_Mutation_p.E199K|GCK_ENST00000395796.3_Missense_Mutation_p.E215K	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	216					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TGATGGTCTTCGTAGTAGCAG	0.557000													11	193					0	0	0.001855	0	0
CRHR1	1394	broad.mit.edu	37	17	43907570	43907570	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:43907570A>C	ENST00000314537.5	+	6	770	c.545A>C	c.(544-546)cAg>cCg	p.Q182P	CRHR1_ENST00000577353.1_Missense_Mutation_p.Q182P|CRHR1_ENST00000352855.5_Missense_Mutation_p.Q142P|CRHR1_ENST00000398285.3_Missense_Mutation_p.Q211P|CRHR1_ENST00000293493.7_Missense_Mutation_p.Q7P|CRHR1_ENST00000339069.5_Missense_Mutation_p.Q81P	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	211					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GAGGTCCACCAGAGCAACGTG	0.642000													4	17					0	0	0.000248	0	0
MED13	9969	broad.mit.edu	37	17	60072573	60072573	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:60072573G>A	ENST00000397786.2	-	10	2197	c.2121C>T	c.(2119-2121)ttC>ttT	p.F707F		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	707					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAGGAAAAAGGAATTCCTCAT	0.343000													7	90					0	0	0.003080	0	0
SLC2A12	154091	broad.mit.edu	37	6	134349572	134349572	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:134349572G>A	ENST00000275230.5	-	2	1546	c.1391C>T	c.(1390-1392)tCc>tTc	p.S464F		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	464						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GCTGGCTAAGGACAGCCATTT	0.433000													5	37					0	0	0.001984	0	0
PLCB4	5332	broad.mit.edu	37	20	9449219	9449219	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:9449219G>A	ENST00000378501.2	+	32	3229	c.3212_splice	c.e32-1	p.E1072_splice	PLCB4_ENST00000334005.3_Splice_Site_p.E1072_splice|PLCB4_ENST00000378473.3_Splice_Site_p.E1084_splice|PLCB4_ENST00000414679.2_Splice_Site_p.E1084_splice|PLCB4_ENST00000378493.1_Splice_Site_p.E1072_splice|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Splice_Site_p.E1072_splice	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1072					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AATACATAGGGAAAGCAAGGA	0.403000													7	61					0	0	0.003080	0	0
GRM3	2913	broad.mit.edu	37	7	86468465	86468465	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:86468465C>T	ENST00000361669.2	+	4	2734	c.1635C>T	c.(1633-1635)acC>acT	p.T545T	GRM3_ENST00000546348.1_Silent_p.T137T|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Silent_p.T417T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	545					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ATGAGTTTACCTGTATGGATT	0.527000													10	32					0	0	0.000673	0	0
TKTL2	84076	broad.mit.edu	37	4	164393292	164393292	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:164393292G>A	ENST00000280605.3	-	1	1755	c.1595C>T	c.(1594-1596)tCt>tTt	p.S532F		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	532						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GACACGGACAGAAATACCTTG	0.498000													7	69					0	0	0.003080	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212336	26212336	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:26212336G>A	ENST00000379034.1	+	2	522	c.373G>A	c.(373-375)Gat>Aat	p.D125N		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	125	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CTCAAAATATGATGTGGCTGC	0.552000													6	54					0	0	0.001168	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12954858	12954858	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:12954858C>T	ENST00000235347.4	-	3	504	c.425G>A	c.(424-426)gGa>gAa	p.G142E		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	142										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGTGCTCTCCCATCCTTGG	0.522000													10	41					0	0	0.000978	0	0
CD34	947	broad.mit.edu	37	1	208062063	208062063	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:208062063C>T	ENST00000356522.4	-	7	1257	c.936G>A	c.(934-936)atG>atA	p.M312I	CD34_ENST00000367036.3_Missense_Mutation_p.M154I|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000537704.1_Missense_Mutation_p.M177I|CD34_ENST00000310833.7_Missense_Mutation_p.M312I	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	312					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						TGCGGCGATTCATCAGGAAAT	0.557000													10	121					0	0	0.000978	0	0
KLHL13	90293	broad.mit.edu	37	X	117043429	117043429	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:117043429C>T	ENST00000371876.1	-	4	3469	c.1048G>A	c.(1048-1050)Gat>Aat	p.D350N	KLHL13_ENST00000469946.1_Missense_Mutation_p.D350N|KLHL13_ENST00000371882.1_Missense_Mutation_p.D350N|KLHL13_ENST00000540167.1_Missense_Mutation_p.D385N|KLHL13_ENST00000371878.1_Missense_Mutation_p.D350N|KLHL13_ENST00000262820.3_Missense_Mutation_p.D401N|KLHL13_ENST00000545703.1_Missense_Mutation_p.D359N|KLHL13_ENST00000539496.1_Missense_Mutation_p.D404N|KLHL13_ENST00000541812.1_Missense_Mutation_p.D385N			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	401					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CCTTTTGTATCATAATTACTC	0.428000													6	33					0	0	0.001984	0	0
NLRP4	147945	broad.mit.edu	37	19	56370027	56370027	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:56370027G>A	ENST00000301295.6	+	3	1690	c.1268G>A	c.(1267-1269)gGg>gAg	p.G423E	NLRP4_ENST00000346986.5_Missense_Mutation_p.G423E|NLRP4_ENST00000587891.1_Missense_Mutation_p.G348E	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	423	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CGGAGAAATGGGGTTGTTGAC	0.567000													5	54					0	0	0.001168	0	0
ANK3	288	broad.mit.edu	37	10	61829548	61829548	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:61829548G>A	ENST00000280772.1	-	37	11282	c.11091C>T	c.(11089-11091)tcC>tcT	p.S3697S	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3697					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGCCACTACTGGATGTGCCTT	0.502000													9	47					0	0	0.000443	0	0
TRAV13-1	28671	broad.mit.edu	37	14	22337489	22337489	+	RNA	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:22337489C>T	ENST00000390436.2	+	0	303																											ACATTTCTCCCTGCACATCAC	0.463000													7	41					0	0	0.001984	0	0
SPDYA	245711	broad.mit.edu	37	2	29038972	29038972	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:29038972C>T	ENST00000334056.5	+	3	281	c.92C>T	c.(91-93)cCc>cTc	p.P31L	SPDYA_ENST00000379579.4_Missense_Mutation_p.P31L|SPDYA_ENST00000462832.1_3'UTR	NM_182756.3	NP_877433.2	Q5MJ70	SPDYA_HUMAN	speedy/RINGO cell cycle regulator family member A	31					G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					CCTAAAAAGCCCATTACTCTG	0.378000													9	58					0	0	0.000443	0	0
DST	667	broad.mit.edu	37	6	56458572	56458572	+	Silent	SNP	G	G	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:56458572G>T	ENST00000370754.5	-	48	12521	c.12522C>A	c.(12520-12522)gcC>gcA	p.A4174A	DST_ENST00000244364.6_Silent_p.A1582A|DST_ENST00000370788.2_Silent_p.A1908A|DST_ENST00000421834.2_Silent_p.A1908A|DST_ENST00000370769.4_Silent_p.A3996A|DST_ENST00000361203.3_Silent_p.A3994A|DST_ENST00000446842.2_Silent_p.A3670A|DST_ENST00000312431.6_Silent_p.A3994A			Q03001	DYST_HUMAN	dystonin	3994					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCAAGATTTGGCAGCTTCCA	0.458000													9	141					0.000442599	0.000906102	0.000443	1	0
AFF2	2334	broad.mit.edu	37	X	148037322	148037322	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:148037322C>T	ENST00000370460.2	+	11	2226	c.1747C>T	c.(1747-1749)Ccc>Tcc	p.P583S	AFF2_ENST00000286437.5_Missense_Mutation_p.P224S|AFF2_ENST00000342251.3_Missense_Mutation_p.P550S|AFF2_ENST00000370457.5_Missense_Mutation_p.P550S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	583					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGCTGAACCCAAAGAAAG	0.483000													7	105					0	0	0.003080	0	0
IFNE	338376	broad.mit.edu	37	9	21481228	21481228	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:21481228C>T	ENST00000448696.3	-	1	1084	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	156					defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(2)|lung(1)|skin(1)	4						TCCTGGTTTTCCAGGTAATCA	0.438000													10	94					0	0	0.000673	0	0
CSF2RB	1439	broad.mit.edu	37	22	37326545	37326545	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr22:37326545G>A	ENST00000262825.5	+	7	1064	c.847G>A	c.(847-849)Gat>Aat	p.D283N	CSF2RB_ENST00000403662.3_Missense_Mutation_p.D283N|CSF2RB_ENST00000406230.1_Missense_Mutation_p.D283N|CSF2RB_ENST00000536485.1_Missense_Mutation_p.D224N	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	283					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GCCCAGCCCAGATGCAGGGTG	0.617000													9	64					0	0	0.004482	0	0
EPHA6	285220	broad.mit.edu	37	3	96706605	96706605	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:96706605C>T	ENST00000389672.5	+	3	920	c.882C>T	c.(880-882)gtC>gtT	p.V294V	EPHA6_ENST00000470610.2_Silent_p.V294V|EPHA6_ENST00000542517.1_Silent_p.V200V	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	199						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGGTTTCAGTCCGTGTTTTCT	0.458000													11	98					0	0	0.001368	0	0
TRHR	7201	broad.mit.edu	37	8	110100010	110100010	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:110100010C>T	ENST00000518632.1	+	2	620	c.269C>T	c.(268-270)tCc>tTc	p.S90F	TRHR_ENST00000311762.2_Missense_Mutation_p.S90F			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	90						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			ATCTACGGTTCCTGGGTCTAT	0.498000													4	44					0	0	0.000248	0	0
ASNSD1	54529	broad.mit.edu	37	2	190535172	190535172	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:190535172C>T	ENST00000260952.4	+	6	2065	c.1652C>T	c.(1651-1653)cCt>cTt	p.P551L	ASNSD1_ENST00000607062.1_Missense_Mutation_p.P70L	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	551	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TTTAGATTTCCTTTCCTGGAT	0.299000													4	30					0	0	0.000248	0	0
CCDC13	152206	broad.mit.edu	37	3	42774963	42774963	+	Splice_Site	SNP	G	G	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:42774963G>C	ENST00000310232.6	-	11	1593	c.1511_splice	c.e11+1	p.R504_splice	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	504										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TTTTCTTACCGAGAAGATCCA	0.537000													12	119					0	0	0.001855	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417986	150417986	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:150417986G>A	ENST00000307194.5	+	3	1034	c.894G>A	c.(892-894)gaG>gaA	p.E298E		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTGGTCGGAGGCCGTTGCGG	0.627000													5	18					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179599268	179599268	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179599268G>A	ENST00000589042.1	-	52	15507	c.15283C>T	c.(15283-15285)Cag>Tag	p.Q5095*	TTN_ENST00000591111.1_Nonsense_Mutation_p.Q4778*|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q3851*|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4778	Ig-like 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTTCACACTGAAGTAGAGCA	0.383000													7	70					0	0	0.001984	0	0
OR2G2	81470	broad.mit.edu	37	1	247752201	247752201	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:247752201C>T	ENST00000320065.1	+	1	540	c.540C>T	c.(538-540)ttC>ttT	p.F180F	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGATCATTTCATCTGCGAGG	0.542000													9	50					0	0	0.004482	0	0
CSMD2	114784	broad.mit.edu	37	1	34049281	34049281	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:34049281G>A	ENST00000373381.4	-	47	7377	c.7201C>T	c.(7201-7203)Ctc>Ttc	p.L2401F		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2403	CUB 14.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTCTCGCTGAGGAAGTACTCC	0.502000													7	80					0	0	0.003080	0	0
REM1	28954	broad.mit.edu	37	20	30064370	30064370	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:30064370C>T	ENST00000201979.2	+	2	415	c.122C>T	c.(121-123)tCc>tTc	p.S41F	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	41					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TCCACTCAATCCCAGCATCCC	0.637000													4	18					0	0	0.000602	0	0
C2orf16	84226	broad.mit.edu	37	2	27802154	27802154	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:27802154G>A	ENST00000408964.2	+	1	2766	c.2715G>A	c.(2713-2715)agG>agA	p.R905R		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	905										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTATGGAAAGGAAGCTTTGTT	0.428000													8	72					0	0	0.004482	0	0
SMO	6608	broad.mit.edu	37	7	128851578	128851578	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:128851578C>T	ENST00000249373.3	+	11	2183	c.1903C>T	c.(1903-1905)Cag>Tag	p.Q635*	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	635					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CATACTGCCCCAGGATATTTC	0.592000			Mis		skin basal cell								5	33					0	0	0.001984	0	0
CFHR5	81494	broad.mit.edu	37	1	196971782	196971782	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:196971782C>T	ENST00000367414.5	+	8	1446	c.1390C>T	c.(1390-1392)Cca>Tca	p.P464S	CFHR5_ENST00000256785.4_Missense_Mutation_p.P440S	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	440	Sushi 8.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GCAATCATTACCACGCTGTGT	0.323000													4	23					0	0	0.000602	0	0
LBP	3929	broad.mit.edu	37	20	36974948	36974948	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:36974948C>T	ENST00000217407.2	+	1	190	c.29C>T	c.(28-30)tCc>tTc	p.S10F		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	10					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GCCCTGCCGTCCATACTGCTG	0.617000													5	26					0	0	0.001984	0	0
RGS9	8787	broad.mit.edu	37	17	63186319	63186319	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:63186319G>A	ENST00000449996.3	+	11	774	c.702G>A	c.(700-702)atG>atA	p.M234I	RGS9_ENST00000262406.9_Missense_Mutation_p.M237I|RGS9_ENST00000443584.3_Missense_Mutation_p.M234I	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	237	G protein gamma.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						AGGCCTTGATGAGGTCCACAG	0.473000													14	136					0	0	0.004007	0	0
NALCN	259232	broad.mit.edu	37	13	101797235	101797235	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr13:101797235C>T	ENST00000251127.6	-	16	1933	c.1852G>A	c.(1852-1854)Gaa>Aaa	p.E618K		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	618						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCATTTGCTTCACTTTGCTTT	0.343000													8	124					0	0	0.004482	0	0
CFH	3075	broad.mit.edu	37	1	196695937	196695937	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:196695937G>A	ENST00000367429.4	+	14	2343	c.2103G>A	c.(2101-2103)tgG>tgA	p.W701*		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	701	Sushi 12.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AACATGGCTGGGCCCAGCTTT	0.363000													6	32					0	0	0.001168	0	0
KIF5A	3798	broad.mit.edu	37	12	57966430	57966430	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:57966430G>A	ENST00000455537.2	+	15	1911	c.1637G>A	c.(1636-1638)cGa>cAa	p.R546Q	KIF5A_ENST00000286452.5_Missense_Mutation_p.R457Q	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	546					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						CAGCGAAAACGAATTGCTGAG	0.572000													7	57					0	0	0.004482	0	0
NCAN	1463	broad.mit.edu	37	19	19338150	19338150	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:19338150C>T	ENST00000252575.5	+	8	1764	c.1721C>T	c.(1720-1722)cCc>cTc	p.P574L	NCAN_ENST00000538881.1_Missense_Mutation_p.P25L	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	574					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			ATGGTCCCACCCAGCATCTCA	0.612000													6	40					0	0	0.001984	0	0
AVPR1B	553	broad.mit.edu	37	1	206224959	206224959	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:206224959C>T	ENST00000367126.4	+	1	984	c.519C>T	c.(517-519)tcC>tcT	p.S173S		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	173					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	TCATTTTTTCCCTGCGGGAGG	0.647000													7	43					0	0	0.004482	0	0
CACNA1C	775	broad.mit.edu	37	12	2714852	2714852	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:2714852T>C	ENST00000399655.1	+	24	3321	c.3056T>C	c.(3055-3057)gTt>gCt	p.V1019A	CACNA1C_ENST00000399595.1_Missense_Mutation_p.V1019A|CACNA1C_ENST00000399603.1_Missense_Mutation_p.V1019A|CACNA1C_ENST00000347598.4_Missense_Mutation_p.V1039A|CACNA1C_ENST00000399649.1_Missense_Mutation_p.V1019A|CACNA1C_ENST00000399641.1_Missense_Mutation_p.V1019A|CACNA1C_ENST00000399637.1_Missense_Mutation_p.V1019A|CACNA1C_ENST00000399597.1_Missense_Mutation_p.V1019A|CACNA1C_ENST00000399591.1_Missense_Mutation_p.V1019A|CACNA1C_ENST00000399638.1_Missense_Mutation_p.V1019A|CACNA1C_ENST00000399629.1_Missense_Mutation_p.V1019A|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000399621.1_Missense_Mutation_p.V1019A|CACNA1C_ENST00000335762.5_Missense_Mutation_p.V1044A|CACNA1C_ENST00000406454.3_Missense_Mutation_p.V1019A|CACNA1C_ENST00000344100.3_Missense_Mutation_p.V1019A|CACNA1C_ENST00000402845.3_Missense_Mutation_p.V1019A|CACNA1C_ENST00000327702.7_Missense_Mutation_p.V1019A|CACNA1C_ENST00000399606.1_Missense_Mutation_p.V1039A|CACNA1C_ENST00000399601.1_Missense_Mutation_p.V1019A|CACNA1C_ENST00000399634.1_Missense_Mutation_p.V1019A|CACNA1C_ENST00000399644.1_Missense_Mutation_p.V1019A|CACNA1C_ENST00000480911.1_Missense_Mutation_p.V1019A|CACNA1C_ENST00000399617.1_Missense_Mutation_p.V1019A	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1039					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CAGCATGTGGTTCAGTGTGTG	0.592000													4	12					0	0	0.001168	0	0
DSCAM	1826	broad.mit.edu	37	21	41684100	41684100	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr21:41684100G>A	ENST00000400454.1	-	9	2447	c.1970C>T	c.(1969-1971)tCc>tTc	p.S657F		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	657	Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGAGAGATTGGAAATCCTCAA	0.537000													6	28					0	0	0.001168	0	0
FILIP1	27145	broad.mit.edu	37	6	76063340	76063340	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:76063340C>T	ENST00000393004.2	-	4	765	c.544G>A	c.(544-546)Gag>Aag	p.E182K	FILIP1_ENST00000370020.1_Missense_Mutation_p.E83K|FILIP1_ENST00000237172.7_Missense_Mutation_p.E182K			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	182										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTCTCTAACTCGTATACGGTG	0.507000													6	63					0	0	0.003080	0	0
BCL11B	64919	broad.mit.edu	37	14	99724040	99724040	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:99724040G>A	ENST00000345514.2	-	2	461	c.195C>T	c.(193-195)ttC>ttT	p.F65F	BCL11B_ENST00000357195.3_Silent_p.F65F|BCL11B_ENST00000443726.2_Intron	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	0						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCCCCAAGGGGAAGTTCATTT	0.592000			T	TLX3	T-ALL								6	40					0	0	0.003080	0	0
TRBV6-6	28601	broad.mit.edu	37	7	142162072	142162072	+	RNA	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:142162072G>A	ENST00000390371.3	-	0	246																											AGCACCAACTGAATAATAAAT	0.493000													12	44					0	0	0.001368	0	0
CASZ1	54897	broad.mit.edu	37	1	10713500	10713500	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:10713500G>A	ENST00000377022.3	-	11	2931	c.2614C>T	c.(2614-2616)Ctc>Ttc	p.L872F	CASZ1_ENST00000344008.5_Missense_Mutation_p.L872F|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	872					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGCGAGATGAGGCCCTTGCTT	0.667000													5	35					0	0	0.001168	0	0
LPA	4018	broad.mit.edu	37	6	160998240	160998240	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:160998240C>T	ENST00000447678.1	-	29	4679	c.4559G>A	c.(4558-4560)gGa>gAa	p.G1520E	LPA_ENST00000316300.5_Missense_Mutation_p.G1520E	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4028	Kringle 14.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACAGGTCCTTCCTGTGACAGT	0.458000													5	50					0	0	0.001168	0	0
P2RY6	5031	broad.mit.edu	37	11	73007869	73007869	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:73007869C>T	ENST00000393590.2	+	2	605	c.306C>T	c.(304-306)gtC>gtT	p.V102V	P2RY6_ENST00000393592.2_Silent_p.V102V|P2RY6_ENST00000349767.2_Silent_p.V102V|P2RY6_ENST00000540124.1_Silent_p.V102V|P2RY6_ENST00000393591.1_Silent_p.V102V|P2RY6_ENST00000538328.1_Silent_p.V102V|P2RY6_ENST00000540342.1_Silent_p.V102V|P2RY6_ENST00000542092.1_Silent_p.V102V	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	102					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						GCCGCCTGGTCCGCTTCCTCT	0.622000													6	70					0	0	0.001168	0	0
CAPN9	10753	broad.mit.edu	37	1	230903338	230903338	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:230903338G>A	ENST00000354537.1	+	5	670	c.588G>A	c.(586-588)atG>atA	p.M196I	CAPN9_ENST00000366666.2_Missense_Mutation_p.M133I|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Missense_Mutation_p.M196I	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	196	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TCGAGGCCATGGAAGACTTCA	0.557000													5	42					0	0	0.000602	0	0
PTGER3	5733	broad.mit.edu	37	1	71318540	71318540	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:71318540C>T	ENST00000370932.2	-	3	1310	c.1080G>A	c.(1078-1080)gaG>gaA	p.E360E	PTGER3_ENST00000351052.5_3'UTR|PTGER3_ENST00000370931.3_3'UTR|PTGER3_ENST00000460330.1_Silent_p.E369E	NM_198717.1	NP_942010.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	360					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	CCCAAAATTCCTCCTGGAAAA	0.318000													8	116					0	0	0.000978	0	0
FOXI1	2299	broad.mit.edu	37	5	169535226	169535226	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:169535226G>A	ENST00000306268.6	+	2	809	c.748G>A	c.(748-750)Gac>Aac	p.D250N	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	250					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAGCCTCAGGACATCTTGGA	0.597000									Pendred syndrome				4	45					0	0	0.001168	0	0
ZNF568	374900	broad.mit.edu	37	19	37440580	37440580	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:37440580C>T	ENST00000415168.1	+	5	709	c.333C>T	c.(331-333)ttC>ttT	p.F111F	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Silent_p.F175F	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	175	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GACAAAGCTTCTATGACTGTG	0.338000													6	66					0	0	0.001984	0	0
ANKRD7	56311	broad.mit.edu	37	7	117865010	117865010	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:117865010G>A	ENST00000357099.4	+	1	299	c.126G>A	c.(124-126)aaG>aaA	p.K42K	ANKRD7_ENST00000265224.4_Silent_p.K42K|ANKRD7_ENST00000433239.1_5'UTR|ANKRD7_ENST00000477532.1_Intron|ANKRD7_ENST00000417525.1_5'UTR			Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	42					male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						AGAAGCTGAAGGAATACCTTC	0.483000													11	71					0	0	0.002450	0	0
PPM1E	22843	broad.mit.edu	37	17	57043226	57043226	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:57043226C>T	ENST00000308249.2	+	3	884	c.755C>T	c.(754-756)cCt>cTt	p.P252L		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	261					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			GTCTGCATTCCTGACTTTAAT	0.433000													5	45					0	0	0.001168	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734767	12734767	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:12734767G>A	ENST00000380682.1	+	15	2695	c.2189G>A	c.(2188-2190)gGg>gAg	p.G730E		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	730					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.G720E(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GCCGCGGAGGGGATCGAGGAA	0.557000													9	100					0	0	0.000673	0	0
SNX33	257364	broad.mit.edu	37	15	75942337	75942337	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:75942337C>T	ENST00000308527.5	+	1	2091	c.894C>T	c.(892-894)ttC>ttT	p.F298F		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	298	PX.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CTGGCCGCTTCGAGGAGGACT	0.567000													7	98					0	0	0.001984	0	0
FGA	2243	broad.mit.edu	37	4	155506675	155506675	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:155506675G>A	ENST00000403106.3	-	5	1984	c.1906C>T	c.(1906-1908)Cct>Tct	p.P636S	FGA_ENST00000302053.3_Intron	NM_021871.2	NP_068657.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	640	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ttccccaaaggagaagtgtgg	0.493000													5	32					0	0	0.000602	0	0
FAM35A	54537	broad.mit.edu	37	10	88939874	88939874	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:88939874C>T	ENST00000298786.4	+	8	2327	c.2213C>T	c.(2212-2214)cCt>cTt	p.P738L	FAM35A_ENST00000298784.1_Missense_Mutation_p.P669L			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	669										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						CTGGCATTTCCTATTACAGCA	0.343000													9	71					0	0	0.000673	0	0
DOCK11	139818	broad.mit.edu	37	X	117775215	117775215	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:117775215G>A	ENST00000276204.6	+	39	4281	c.4207G>A	c.(4207-4209)Gaa>Aaa	p.E1403K	DOCK11_ENST00000276202.7_Missense_Mutation_p.E1403K			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1403					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TACAGCTACTGAAGTTTCCCT	0.363000													5	31					0	0	0.001168	0	0
SPTAN1	6709	broad.mit.edu	37	9	131345360	131345360	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:131345360C>T	ENST00000372739.3	+	15	1921	c.1811C>T	c.(1810-1812)cCa>cTa	p.P604L	SPTAN1_ENST00000372731.4_Missense_Mutation_p.P604L|SPTAN1_ENST00000358161.5_Missense_Mutation_p.P604L	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	604					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TCACAGGATCCATCCAACCTA	0.438000													5	27					0	0	0.001168	0	0
CDHR2	54825	broad.mit.edu	37	5	176016402	176016402	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:176016402C>T	ENST00000510636.1	+	23	3354	c.3080C>T	c.(3079-3081)tCc>tTc	p.S1027F	CDHR2_ENST00000261944.5_Missense_Mutation_p.S1027F|CDHR2_ENST00000506348.1_Missense_Mutation_p.S1027F	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1027	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GACAGACCTTCCTTGGGTCCT	0.662000													6	39					0	0	0.003080	0	0
SLC12A3	6559	broad.mit.edu	37	16	56920320	56920320	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:56920320C>T	ENST00000438926.2	+	16	1999	c.1970C>T	c.(1969-1971)gCc>gTc	p.A657V	SLC12A3_ENST00000563236.1_Missense_Mutation_p.A657V|SLC12A3_ENST00000262502.5_Missense_Mutation_p.A656V|SLC12A3_ENST00000566786.1_Missense_Mutation_p.A656V	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	657					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TTCCGCCCGGCCCTGGTGGAC	0.672000													7	24					0	0	0.000673	0	0
PLB1	151056	broad.mit.edu	37	2	28771773	28771773	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:28771773G>A	ENST00000422425.2	+	15	1060	c.1016G>A	c.(1015-1017)gGg>gAg	p.G339E	PLB1_ENST00000329020.6_Missense_Mutation_p.G16E|PLB1_ENST00000327757.5_Missense_Mutation_p.G328E	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	328	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTAAAACACGGGAGGCCAATG	0.547000													4	32					0	0	0.000248	0	0
MISP	126353	broad.mit.edu	37	19	757081	757081	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:757081G>A	ENST00000215582.6	+	2	238	c.135G>A	c.(133-135)caG>caA	p.Q45Q		NM_173481.2	NP_775752.1			mitotic spindle positioning																		GCTGGGGCCAGGATGAGCCGC	0.677000													4	16					0	0	0.000248	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712498	140712498	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:140712498C>T	ENST00000517417.1	+	1	2247	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	PCDHGA1_ENST00000378105.3_Silent_p.F749F	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGGGCTTTCCTGCAGACCT	0.627000													5	42					0	0	0.000602	0	0
GPR32	2854	broad.mit.edu	37	19	51274294	51274294	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:51274294C>T	ENST00000270590.4	+	1	574	c.437C>T	c.(436-438)cCc>cTc	p.P146L		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	146						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GTCCTCTACCCCGTCTGGGCC	0.592000													5	54					0	0	0.000602	0	0
HOXA5	3202	broad.mit.edu	37	7	27182905	27182905	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:27182905G>A	ENST00000222726.3	-	1	382	c.322C>T	c.(322-324)Ccc>Tcc	p.P108S	HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA3_ENST00000467897.2_Intron	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	108					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						CCGGGCGAGGGGGCCACGGCG	0.731000													5	32					0	0	0.001168	0	0
POLR3B	55703	broad.mit.edu	37	12	106772118	106772118	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:106772118C>T	ENST00000228347.4	+	8	792	c.570C>T	c.(568-570)atC>atT	p.I190I	POLR3B_ENST00000539066.1_Silent_p.I132I	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	190					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						ACAGGATCATCGTGGAGGCTG	0.413000													6	56					0	0	0.004482	0	0
HDC	3067	broad.mit.edu	37	15	50555448	50555448	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:50555448C>T	ENST00000267845.3	-	2	590	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	HDC_ENST00000543581.1_Missense_Mutation_p.R63Q	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	63					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CATGATGATTCGTTCAATGTC	0.597000													14	74					0	0	0.002450	0	0
SLC52A2	79581	broad.mit.edu	37	8	145584592	145584592	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:145584592G>T	ENST00000532887.1	+	5	1838	c.1255G>T	c.(1255-1257)Ggc>Tgc	p.G419C	SLC52A2_ENST00000527078.1_Missense_Mutation_p.G419C|SLC52A2_ENST00000329994.2_Missense_Mutation_p.G419C|SLC52A2_ENST00000526752.1_Missense_Mutation_p.R87L|SLC52A2_ENST00000530047.1_Missense_Mutation_p.G419C|SLC52A2_ENST00000540505.1_Missense_Mutation_p.G331C|SLC52A2_ENST00000402965.1_Missense_Mutation_p.G419C			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	419						integral to plasma membrane	receptor activity|riboflavin transporter activity										CTCTCTGCTCGGCGCTGTTGC	0.652000													5	50					0.00198382	0.00402824	0.001984	1	0
EIF4G3	8672	broad.mit.edu	37	1	21276553	21276553	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:21276553C>T	ENST00000602326.1	-	11	1199	c.616G>A	c.(616-618)Gag>Aag	p.E206K	EIF4G3_ENST00000536266.1_Intron|EIF4G3_ENST00000374935.3_Missense_Mutation_p.E200K|EIF4G3_ENST00000400422.1_Missense_Mutation_p.E200K|EIF4G3_ENST00000374927.4_Missense_Mutation_p.E200K|EIF4G3_ENST00000374937.3_Missense_Mutation_p.E206K|EIF4G3_ENST00000264211.8_Missense_Mutation_p.E200K|EIF4G3_ENST00000356916.3_Missense_Mutation_p.E211K	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	200					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGAGCGCTCTCCACAGTCCCA	0.512000													4	31					0	0	0.000602	0	0
GRM3	2913	broad.mit.edu	37	7	86468786	86468786	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:86468786C>T	ENST00000361669.2	+	4	3055	c.1956C>T	c.(1954-1956)ttC>ttT	p.F652F	GRM3_ENST00000546348.1_Silent_p.F244F|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Silent_p.F524F	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	652					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GGAGTTCCTTCGCTATCTGTT	0.532000													12	59					0	0	0.001855	0	0
COL4A4	1286	broad.mit.edu	37	2	227946857	227946857	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:227946857C>G	ENST00000396625.3	-	23	1877	c.1670G>C	c.(1669-1671)gGt>gCt	p.G557A	COL4A4_ENST00000329662.7_Missense_Mutation_p.G557A	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	557	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AACCATGTCACCCTTCGCCCC	0.418000													7	96					0	0	0.004482	0	0
PCDH10	57575	broad.mit.edu	37	4	134072190	134072190	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:134072190G>A	ENST00000264360.4	+	1	1721	c.895G>A	c.(895-897)Gag>Aag	p.E299K		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	299	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCGGGCGCGGGAGCTTTTCGG	0.617000													4	25					0	0	0.000248	0	0
VPS13B	157680	broad.mit.edu	37	8	100654473	100654473	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:100654473G>A	ENST00000358544.2	+	34	5841	c.5730G>A	c.(5728-5730)ggG>ggA	p.G1910G	VPS13B_ENST00000357162.2_Silent_p.G1885G|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1910					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCCTTCAGGGAAAAAAATAG	0.453000													5	56					0	0	0.000602	0	0
DMD	1756	broad.mit.edu	37	X	32834585	32834585	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:32834585C>T	ENST00000357033.4	-	6	736	c.530_splice	c.e6+1	p.R177_splice	DMD_ENST00000378677.2_Splice_Site_p.R173_splice|DMD_ENST00000288447.4_Splice_Site_p.R169_splice	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	177	Actin-binding.|CH 2.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATCTTCTTACCTATGACTATG	0.393000													6	45					0	0	0.001168	0	0
DIS3L2	129563	broad.mit.edu	37	2	233195473	233195473	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:233195473C>T	ENST00000325385.7	+	16	2273	c.1997C>T	c.(1996-1998)tCc>tTc	p.S666F	DIS3L2_ENST00000409307.1_Missense_Mutation_p.S666F|DIS3L2_ENST00000273009.6_Intron	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	666							exonuclease activity|ribonuclease activity|RNA binding	p.S666F(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AACATGTGCTCCCGGCCCATG	0.597000													6	55					0	0	0.001984	0	0
IL17RB	55540	broad.mit.edu	37	3	53886994	53886994	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:53886994C>T	ENST00000288167.3	+	5	460	c.451C>T	c.(451-453)Cct>Tct	p.P151S		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	151					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		TGAAGATGGCCCTTCCATGTC	0.423000													5	56					0	0	0.001168	0	0
GPRASP1	9737	broad.mit.edu	37	X	101910756	101910756	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:101910756G>A	ENST00000537097.1	+	6	2728	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.E639K|GPRASP1_ENST00000361600.5_Missense_Mutation_p.E639K|GPRASP1_ENST00000415986.1_Missense_Mutation_p.E639K	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	639	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGAGGACAAGGAAGAGGCCAT	0.517000													5	69					0	0	0.000602	0	0
CANX	821	broad.mit.edu	37	5	179150759	179150759	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:179150759C>T	ENST00000247461.4	+	12	1697	c.1497C>T	c.(1495-1497)atC>atT	p.I499I	CANX_ENST00000512607.2_Silent_p.I391I|CANX_ENST00000504734.1_Silent_p.I499I|CANX_ENST00000415618.2_Silent_p.I534I|CANX_ENST00000452673.2_Silent_p.I499I	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	499					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCTGGTTATCCTCTTCTGCT	0.428000													4	46					0	0	0.000248	0	0
TTN	7273	broad.mit.edu	37	2	179595732	179595732	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179595732T>G	ENST00000589042.1	-	60	17884	c.17660A>C	c.(17659-17661)aAg>aCg	p.K5887T	TTN_ENST00000591111.1_Missense_Mutation_p.K5570T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K4643T|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5570	Ig-like 40.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTATCTTTCTTTTCTGTAGA	0.378000													9	89					0	0	0.000443	0	0
FGFR2	2263	broad.mit.edu	37	10	123256058	123256058	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:123256058C>A	ENST00000358487.5	-	13	2123	c.1851G>T	c.(1849-1851)ttG>ttT	p.L617F	FGFR2_ENST00000356226.4_Missense_Mutation_p.L500F|FGFR2_ENST00000360144.3_Missense_Mutation_p.L529F|FGFR2_ENST00000478859.1_Missense_Mutation_p.L389F|FGFR2_ENST00000346997.2_Missense_Mutation_p.L615F|FGFR2_ENST00000357555.5_Missense_Mutation_p.L528F|FGFR2_ENST00000457416.2_Missense_Mutation_p.L618F|FGFR2_ENST00000369061.4_Missense_Mutation_p.L505F|FGFR2_ENST00000351936.6_Missense_Mutation_p.L615F|FGFR2_ENST00000369059.1_Missense_Mutation_p.L503F|FGFR2_ENST00000369056.1_Missense_Mutation_p.L618F|FGFR2_ENST00000369060.4_Missense_Mutation_p.L501F	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	617	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TTTGGGAAGCCAAGTACTCCA	0.453000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				15	151					1.01871e-10	2.09414e-10	0.001216	1	0
TRIM31	11074	broad.mit.edu	37	6	30075913	30075913	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:30075913G>A	ENST00000376734.3	-	6	925	c.800C>T	c.(799-801)cCt>cTt	p.P267L	TRIM31_ENST00000540829.1_Missense_Mutation_p.P267L|TRIM31_ENST00000485864.1_5'UTR|TRIM31-AS1_ENST00000440874.1_RNA	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	267						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						CAGAGGAACAGGGGTTGGGTT	0.458000													4	36					0	0	0.000248	0	0
RGAG1	57529	broad.mit.edu	37	X	109694885	109694885	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:109694885C>T	ENST00000465301.2	+	3	1286	c.1040C>T	c.(1039-1041)tCc>tTc	p.S347F	RGAG1_ENST00000540313.1_Missense_Mutation_p.S347F	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	347										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GAAGCAATGTCCCCAGCACTA	0.547000													14	142					0	0	0.003163	0	0
PDZD2	23037	broad.mit.edu	37	5	32090175	32090175	+	Silent	SNP	G	G	A	rs138558075		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:32090175G>A	ENST00000438447.1	+	20	7009	c.6621G>A	c.(6619-6621)tcG>tcA	p.S2207S	PDZD2_ENST00000282493.3_Silent_p.S2207S			O15018	PDZD2_HUMAN	PDZ domain containing 2	2207					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.S2207S(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGGGCCCCTCGGGGGAGGACC	0.582000													10	101					0	0	0.000443	0	0
MED1	5469	broad.mit.edu	37	17	37565988	37565988	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:37565988T>C	ENST00000300651.6	-	17	2709	c.2486A>G	c.(2485-2487)aAc>aGc	p.N829S	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	829	Interaction with ESR1.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTCATTATTGTTAGTTTGAAA	0.438000										HNSCC(31;0.082)			6	51					0	0	0.001168	0	0
DPYD	1806	broad.mit.edu	37	1	98164917	98164917	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:98164917C>T	ENST00000370192.3	-	6	770	c.670G>A	c.(670-672)Ggt>Agt	p.G224S	DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	224					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CTTAAACCACCAACATATTCT	0.353000													4	34					0	0	0.000602	0	0
GFRA1	2674	broad.mit.edu	37	10	117849293	117849293	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:117849293C>T	ENST00000439649.3	-	8	1508	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K	GFRA1_ENST00000369236.1_Missense_Mutation_p.E381K|GFRA1_ENST00000355422.6_Missense_Mutation_p.E386K|GFRA1_ENST00000544592.1_Missense_Mutation_p.E265K	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	386					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GTGGGAATTTCATTCTCAGAC	0.577000													8	41					0	0	0.004482	0	0
DNAH5	1767	broad.mit.edu	37	5	13859615	13859615	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:13859615C>T	ENST00000265104.4	-	30	5000	c.4896G>A	c.(4894-4896)tgG>tgA	p.W1632*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1632	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTAAATAAATCCACAGGTTTT	0.423000									Kartagener syndrome				4	41					0	0	0.000248	0	0
PRG4	10216	broad.mit.edu	37	1	186277191	186277191	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:186277191G>A	ENST00000445192.2	+	7	2385	c.2340G>A	c.(2338-2340)ggG>ggA	p.G780G	PRG4_ENST00000367485.4_Silent_p.G687G|PRG4_ENST00000367486.3_Silent_p.G737G|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.G739G	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	780	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCCCTAAGGGGACTGCTCCAA	0.602000													5	76					0	0	0.000602	0	0
ANK3	288	broad.mit.edu	37	10	61932897	61932897	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:61932897C>T	ENST00000280772.1	-	19	2423	c.2232G>A	c.(2230-2232)aaG>aaA	p.K744K	ANK3_ENST00000503366.1_Silent_p.K727K|ANK3_ENST00000373827.2_Silent_p.K738K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	744					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AATTAACAATCTTGATATTTC	0.338000													4	24					0	0	0.000248	0	0
SMO	6608	broad.mit.edu	37	7	128851577	128851577	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:128851577C>T	ENST00000249373.3	+	11	2182	c.1902C>T	c.(1900-1902)ccC>ccT	p.P634P	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	634					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCATACTGCCCCAGGATATTT	0.597000			Mis		skin basal cell								5	32					0	0	0.001984	0	0
LHFPL4	375323	broad.mit.edu	37	3	9547675	9547675	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:9547675C>T	ENST00000287585.6	-	3	904	c.619G>A	c.(619-621)Gag>Aag	p.E207K		NM_198560.2	NP_940962.1	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	207						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					TTGAGCTCCTCCTGCAGCAGG	0.612000													6	73					0	0	0.003080	0	0
OTOGL	283310	broad.mit.edu	37	12	80764421	80764421	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:80764421G>A	ENST00000458043.2	+	55	6666	c.6660G>A	c.(6658-6660)ctG>ctA	p.L2220L	OTOGL_ENST00000547103.1_Silent_p.L2208L|OTOGL_ENST00000546620.1_Silent_p.L239L	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CAATAATTCTGAACTACACAA	0.303000													9	68					0	0	0.000673	0	0
ZHX1	11244	broad.mit.edu	37	8	124265833	124265833	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:124265833A>G	ENST00000395571.3	-	3	2971	c.2354T>C	c.(2353-2355)cTt>cCt	p.L785P	ZHX1_ENST00000297857.2_Missense_Mutation_p.L785P|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Missense_Mutation_p.L785P	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	785					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			ATAATCCTTAAGTATTGCAGT	0.423000													11	76					0	0	0.000978	0	0
WNT7B	7477	broad.mit.edu	37	22	46319209	46319209	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr22:46319209C>T	ENST00000339464.4	-	4	951	c.577G>A	c.(577-579)Gag>Aag	p.E193K	WNT7B_ENST00000410089.1_Missense_Mutation_p.E177K|WNT7B_ENST00000409496.3_Missense_Mutation_p.E197K	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	193					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		ATCCGGTCCTCTAGAACCTGC	0.662000													4	24					0	0	0.000248	0	0
FAM47C	442444	broad.mit.edu	37	X	37029445	37029445	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:37029445A>G	ENST00000358047.3	+	1	3014	c.2962A>G	c.(2962-2964)Agc>Ggc	p.S988G		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	988										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TTTCATTCTAAGCAAGGGCTA	0.448000													4	81					0	0	0.000248	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217150	150217150	+	Missense_Mutation	SNP	G	G	A	rs114367962	byFrequency	TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:150217150G>A	ENST00000313543.4	+	2	245	c.88G>A	c.(88-90)Gga>Aga	p.G30R		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	30							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACCATCCTTGGAGAGGAAAT	0.502000													4	25					0	0	0.000248	0	0
CTNNA3	29119	broad.mit.edu	37	10	69366766	69366766	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:69366766C>T	ENST00000433211.1	-	3	315	c.141G>A	c.(139-141)agG>agA	p.R47R	CTNNA3_ENST00000373744.4_Silent_p.R47R|CTNNA3_ENST00000545309.1_Silent_p.R47R	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	47					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GTCCTTTTTTCCTGCTGGAAG	0.418000													4	37					0	0	0.000248	0	0
GLMN	11146	broad.mit.edu	37	1	92732271	92732271	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:92732271G>A	ENST00000370360.3	-	12	1207	c.1126C>T	c.(1126-1128)Ccc>Tcc	p.P376S	GLMN_ENST00000534881.1_Intron	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	376					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		GTCTCAATGGGGCAAAGTGTC	0.269000									Multiple Glomus Tumors (of the Skin), Familial				4	47					0	0	0.000248	0	0
ABCD2	225	broad.mit.edu	37	12	39994471	39994471	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:39994471C>T	ENST00000308666.3	-	6	1683	c.1548G>A	c.(1546-1548)ggG>ggA	p.G516G		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	516	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						GAGAACTTTTCCCACAACCAT	0.353000													8	60					0	0	0.004482	0	0
GPR111	222611	broad.mit.edu	37	6	47649918	47649918	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:47649918C>T	ENST00000398742.2	+	5	1468	c.1419C>T	c.(1417-1419)ctC>ctT	p.L473L	GPR111_ENST00000296862.1_Silent_p.L541L|GPR111_ENST00000507065.1_Silent_p.L473L			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	541					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CCAAGGCACTCCTTATCCTCT	0.448000													7	33					0	0	0.001984	0	0
PMP2	5375	broad.mit.edu	37	8	82355685	82355685	+	Splice_Site	SNP	T	T	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:82355685T>C	ENST00000256103.2	-	4	485		c.e4-2		PMP2_ENST00000519260.1_Splice_Site|RP11-157I4.4_ENST00000524085.2_RNA	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	peripheral myelin protein 2							cytoplasm	cholesterol binding|fatty acid binding|transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			TTTACATTCCTTAAAAAAGAG	0.294000													4	71					0	0	0.000602	0	0
OR5D13	390142	broad.mit.edu	37	11	55541798	55541798	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:55541798G>A	ENST00000361760.1	+	1	885	c.885G>A	c.(883-885)agG>agA	p.R295R		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R295R(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ACAGCCTTAGGAACAAAGATA	0.348000													4	19					0	0	0.000248	0	0
PRKCA	5578	broad.mit.edu	37	17	64783058	64783058	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:64783058C>T	ENST00000413366.3	+	15	1705	c.1679C>T	c.(1678-1680)tCc>tTc	p.S560F		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	560	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	TATCCAAAATCCTTGTCCAAG	0.433000													7	48					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179647623	179647623	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179647623C>T	ENST00000589042.1	-	18	3234	c.3010G>A	c.(3010-3012)Gaa>Aaa	p.E1004K	TTN_ENST00000360870.5_Missense_Mutation_p.E1004K|TTN_ENST00000591111.1_Missense_Mutation_p.E1004K|TTN_ENST00000342992.6_Missense_Mutation_p.E1004K|TTN_ENST00000342175.6_Missense_Mutation_p.E958K|TTN_ENST00000460472.2_Missense_Mutation_p.E958K|TTN_ENST00000359218.5_Missense_Mutation_p.E958K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1004	Ig-like 3.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAAATGCTTCGCGAATCATA	0.502000													4	26					0	0	0.000248	0	0
ANTXR1	84168	broad.mit.edu	37	2	69409754	69409754	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:69409754C>T	ENST00000303714.4	+	16	1637	c.1315C>T	c.(1315-1317)Cgg>Tgg	p.R439W		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	439					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CAATATGCGTCGGCCTTCTTC	0.438000									Familial Infantile Hemangioma				6	45					0	0	0.001168	0	0
IFNA16	3449	broad.mit.edu	37	9	21216942	21216942	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:21216942G>A	ENST00000380216.1	-	1	368	c.363C>T	c.(361-363)gcC>gcT	p.A121A		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	121					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GTGTCACACAGGCTTCTAGGT	0.448000													7	79					0	0	0.003080	0	0
KNTC1	9735	broad.mit.edu	37	12	123028814	123028814	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:123028814G>A	ENST00000333479.7	+	8	844	c.667G>A	c.(667-669)Ggg>Agg	p.G223R	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	223					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGTGATAATTGGGGTAATTGT	0.294000													5	94					0	0	0.000602	0	0
IRF6	3664	broad.mit.edu	37	1	209974602	209974602	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:209974602C>T	ENST00000367021.3	-	3	329	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	IRF6_ENST00000542854.1_Intron	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	53					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		ATGGTATTTTCCTCTTCTTGT	0.423000										HNSCC(57;0.16)			8	59					0	0	0.003080	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187688	140187688	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:140187688G>A	ENST00000530339.1	+	1	916	c.916G>A	c.(916-918)Gga>Aga	p.G306R	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.G306R|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.G306R|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATTGTAAAGGGATATATTGA	0.348000													6	79					0	0	0.001984	0	0
HTT	3064	broad.mit.edu	37	4	3225846	3225846	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:3225846C>T	ENST00000355072.5	+	56	7898	c.7753C>T	c.(7753-7755)Ccg>Tcg	p.P2585S		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2585					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTCTCTGTCTCCGGCTACTAC	0.512000													6	92					0	0	0.001168	0	0
SNAP47	116841	broad.mit.edu	37	1	227947071	227947071	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:227947071C>T	ENST00000366759.4	+	3	1422	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	SNAP47_ENST00000366760.1_Silent_p.I94I|SNAP47_ENST00000315781.5_Silent_p.I336I	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	336						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CAGAGGTTATCCCCATTTTAG	0.488000													8	66					0	0	0.003080	0	0
C2orf42	54980	broad.mit.edu	37	2	70402819	70402819	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:70402819G>A	ENST00000264434.2	-	5	1404	c.1025C>T	c.(1024-1026)tCg>tTg	p.S342L	C2orf42_ENST00000420306.1_Missense_Mutation_p.S342L	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	342										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CCTTTTTAACGAGGAAGCAAC	0.448000													16	162					0	0	0.004990	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110033590	110033590	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:110033590C>T	ENST00000369870.3	+	10	1420	c.1405C>T	c.(1405-1407)Ccg>Tcg	p.P469S		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	469										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGTCAACTCCCCGTTATCTGC	0.607000											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	128					0	0	0.000978	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759071	121759071	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:121759071G>A	ENST00000261367.7	+	6	2208	c.780G>A	c.(778-780)gtG>gtA	p.V260V	SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000261368.8_Silent_p.V213V|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379536.2_Silent_p.V213V|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Silent_p.V260V|SNCAIP_ENST00000503116.2_Silent_p.V260V			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	213					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TTTCTCCCGTGAAAAGCCCTC	0.483000													5	49					0	0	0.001168	0	0
GPR111	222611	broad.mit.edu	37	6	47649845	47649845	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:47649845G>A	ENST00000398742.2	+	5	1395	c.1346G>A	c.(1345-1347)gGa>gAa	p.G449E	GPR111_ENST00000296862.1_Missense_Mutation_p.G517E|GPR111_ENST00000507065.1_Missense_Mutation_p.G449E			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	517					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CACCACAAGGGATGTGTGGCA	0.433000													4	26					0	0	0.000248	0	0
HECTD4	283450	broad.mit.edu	37	12	112647993	112647993	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:112647993G>A	ENST00000550722.1	-	50	7650	c.7255C>T	c.(7255-7257)Cgc>Tgc	p.R2419C	HECTD4_ENST00000377560.5_Missense_Mutation_p.R2393C|HECTD4_ENST00000430131.2_Missense_Mutation_p.R2143C	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GCAGCATTGCGGTGGGCCTGC	0.542000													6	77					0	0	0.001984	0	0
SNHG14	104472715	broad.mit.edu	37	15	25430698	25430698	+	RNA	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:25430698C>T	ENST00000424208.1	+	0	559					NR_003305.1																						TTCCTGTCATCCTGGTATCCT	0.587000													5	37					0	0	0.000602	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919833	12919833	+	Silent	SNP	A	A	G	rs150145103	byFrequency	TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:12919833A>G	ENST00000240189.2	+	3	660	c.573A>G	c.(571-573)ccA>ccG	p.P191P		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	191								p.P191P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTAACGCCAATTAAATATC	0.398000													6	180					0	0	0.000673	0	0
ANKRD44	91526	broad.mit.edu	37	2	197990750	197990750	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:197990750C>A	ENST00000328737.2	-	5	274	c.198G>T	c.(196-198)caG>caT	p.Q66H	ANKRD44_ENST00000539527.1_Missense_Mutation_p.Q19H|ANKRD44_ENST00000409153.1_Missense_Mutation_p.Q91H|ANKRD44_ENST00000409919.1_Missense_Mutation_p.Q91H|ANKRD44_ENST00000282272.8_Missense_Mutation_p.Q83H|ANKRD44_ENST00000337207.5_Missense_Mutation_p.Q66H|ANKRD44_ENST00000450567.1_Missense_Mutation_p.Q66H			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	91							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TAATCAAAACCTGTACTGCTT	0.463000													6	42					0.000157383	0.000322531	0.003080	1	0
FBXO25	26260	broad.mit.edu	37	8	400073	400073	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:400073C>T	ENST00000352684.2	+	5	681	c.264C>T	c.(262-264)atC>atT	p.I88I	FBXO25_ENST00000350302.3_Silent_p.I155I|FBXO25_ENST00000276326.5_Silent_p.I155I|FBXO25_ENST00000382824.1_Silent_p.I88I	NM_012173.3	NP_036305.2	Q8TCJ0	FBX25_HUMAN	F-box protein 25	155				IYVHKESTKE -> LILTSVLLFQ (in Ref. 4; AAF04526).		nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		TGGATAAAATCGTTCAAAAGG	0.343000													9	84					0	0	0.004482	0	0
CUL9	23113	broad.mit.edu	37	6	43172271	43172271	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:43172271C>T	ENST00000252050.4	+	21	4417	c.4333C>T	c.(4333-4335)Cgg>Tgg	p.R1445W	CUL9_ENST00000372647.2_Missense_Mutation_p.R1445W|CUL9_ENST00000354495.3_Missense_Mutation_p.R1335W	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1445					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCCATCCACTCGGCCCTGTAA	0.592000													6	56					0	0	0.001168	0	0
DMXL2	23312	broad.mit.edu	37	15	51741329	51741329	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:51741329G>A	ENST00000251076.5	-	43	9250	c.8963C>T	c.(8962-8964)tCc>tTc	p.S2988F	DMXL2_ENST00000449909.3_Missense_Mutation_p.S2352F|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.S2989F	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2988						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCGAAATATGGACTGCTTAGC	0.428000													4	27					0	0	0.000248	0	0
OR51S1	119692	broad.mit.edu	37	11	4869952	4869952	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:4869952G>A	ENST00000322101.2	-	1	562	c.487C>T	c.(487-489)Ctc>Ttc	p.L163F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCAGATGGAGACCCAGGCAT	0.557000													8	61					0	0	0.003080	0	0
LRP4	4038	broad.mit.edu	37	11	46911511	46911511	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:46911511G>A	ENST00000378623.1	-	15	2318	c.2076C>T	c.(2074-2076)ccC>ccT	p.P692P		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	692					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTTGGCGCTGGGGGTGCAAGG	0.522000											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	35					0	0	0.000602	0	0
OGN	4969	broad.mit.edu	37	9	95152158	95152158	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:95152158C>T	ENST00000262551.4	-	5	1028	c.608G>A	c.(607-609)gGa>gAa	p.G203E	CENPP_ENST00000375587.3_Intron|OGN_ENST00000468743.1_5'UTR|OGN_ENST00000375561.5_Missense_Mutation_p.G203E	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	203						extracellular space|proteinaceous extracellular matrix	growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						TGCTTTGATTCCCCTACTCTT	0.313000													7	74					0	0	0.001984	0	0
USP7	7874	broad.mit.edu	37	16	8988992	8988992	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:8988992G>A	ENST00000344836.4	-	28	3133	c.2935C>T	c.(2935-2937)Cag>Tag	p.Q979*	USP7_ENST00000381886.4_Nonsense_Mutation_p.Q963*|USP7_ENST00000535863.1_Nonsense_Mutation_p.Q880*	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	979					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ATGTCCACCTGGTCCAAAGGG	0.468000													7	109					0	0	0.004482	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81070838	81070838	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:81070838C>T	ENST00000334512.5	+	24	3565	c.2993C>T	c.(2992-2994)cCc>cTc	p.P998L	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	998	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CAGGCCGCTCCCAGCAGCCAT	0.667000													6	52					0	0	0.000978	0	0
SLAMF9	89886	broad.mit.edu	37	1	159921544	159921544	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:159921544G>A	ENST00000368093.3	-	4	893	c.777C>T	c.(775-777)gtC>gtT	p.V259V	SLAMF9_ENST00000466773.1_5'UTR|SLAMF9_ENST00000368092.3_Silent_p.V168V	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	259						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTCTTTTCTGGACTCGGATGA	0.507000													6	43					0	0	0.001168	0	0
OR5H14	403273	broad.mit.edu	37	3	97868711	97868711	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:97868711G>A	ENST00000437310.1	+	1	542	c.482G>A	c.(481-483)gGa>gAa	p.G161E		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATCCATGAAGGATTTTTATTC	0.348000													6	66					0	0	0.001168	0	0
OR6C75	390323	broad.mit.edu	37	12	55758931	55758931	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:55758931C>T	ENST00000343399.3	+	1	37	c.37C>T	c.(37-39)Ctt>Ttt	p.L13F		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						CTTTATTCTTCTTGGATTGAC	0.353000													7	71					0	0	0.000443	0	0
OR2M2	391194	broad.mit.edu	37	1	248344204	248344204	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:248344204G>A	ENST00000359682.2	+	1	917	c.917G>A	c.(916-918)gGa>gAa	p.G306E		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G306V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AAGATCTTAGGAAAGGGCAAG	0.398000													7	103					0	0	0.003080	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176128	140176128	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:140176128G>A	ENST00000526136.1	+	1	1579	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E527K|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E527K	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCACGAGGAAGTGGAGCT	0.687000													5	57					0	0	0.000602	0	0
TNXB	7148	broad.mit.edu	37	6	32039861	32039861	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:32039861G>A	ENST00000375244.3	-	13	5097	c.4896C>T	c.(4894-4896)atC>atT	p.I1632I	TNXB_ENST00000375247.2_Silent_p.I1632I			P22105	TENX_HUMAN	tenascin XB	1714	Fibronectin type-III 8.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCAGGTCAGGGATAGTGACCT	0.592000													11	94					0	0	0.000673	0	0
ASCC3	10973	broad.mit.edu	37	6	100957841	100957841	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:100957841G>A	ENST00000369162.2	-	41	6772	c.6428C>T	c.(6427-6429)tCc>tTc	p.S2143F		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	2143	SEC63 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AAAAGAAAGGGAAGCAACATG	0.368000													5	103					0	0	0.001168	0	0
SNRNP200	23020	broad.mit.edu	37	2	96952094	96952094	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:96952094G>A	ENST00000323853.5	-	29	4035	c.3958C>T	c.(3958-3960)Ctt>Ttt	p.L1320F	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1320						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCTTGGTAAAGACTCTCAAAG	0.522000													7	63					0	0	0.001984	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541347	133541347	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:133541347C>T	ENST00000409261.1	-	14	3410	c.3037G>A	c.(3037-3039)Gaa>Aaa	p.E1013K	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E1013K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1013							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ATGACTGCTTCTGGGGAGGGC	0.542000													4	24					0	0	0.000248	0	0
ZP4	57829	broad.mit.edu	37	1	238050838	238050838	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:238050838C>G	ENST00000366570.4	-	5	735	c.577G>C	c.(577-579)Ggc>Cgc	p.G193R	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	193	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GAGAAATGGCCCTCTCGGGTA	0.522000													7	37					0	0	0.004482	0	0
FAT3	120114	broad.mit.edu	37	11	92533749	92533749	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:92533749G>A	ENST00000298047.6	+	9	7587	c.7570G>A	c.(7570-7572)Gat>Aat	p.D2524N	FAT3_ENST00000409404.2_Missense_Mutation_p.D2524N|FAT3_ENST00000525166.1_Missense_Mutation_p.D2374N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2524	Cadherin 23.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CACAGATGGTGATCCAGGGAC	0.488000										TCGA Ovarian(4;0.039)			13	221					0	0	0.001855	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907674	164907674	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:164907674G>A	ENST00000475390.1	-	2	1388	c.945C>T	c.(943-945)tcC>tcT	p.S315S	SLITRK3_ENST00000241274.3_Silent_p.S315S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	315						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AATGAACAGAGGATAGCATTG	0.478000										HNSCC(40;0.11)			11	77					0	0	0.000673	0	0
NRG1	3084	broad.mit.edu	37	8	32621337	32621337	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:32621337C>T	ENST00000338921.4	+	13	1881	c.1364C>T	c.(1363-1365)tCg>tTg	p.S455L	NRG1_ENST00000519301.1_Missense_Mutation_p.S397L|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287840.5_Missense_Mutation_p.S447L|NRG1_ENST00000287842.3_Missense_Mutation_p.S444L|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000356819.4_Missense_Mutation_p.S452L|NRG1_ENST00000539990.1_Missense_Mutation_p.S290L|NRG1_ENST00000405005.2_Missense_Mutation_p.S447L|NRG1_ENST00000287845.5_Missense_Mutation_p.S418L			Q02297	NRG1_HUMAN	neuregulin 1	447					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TCCCCCAAATCGCCCCCTTCG	0.557000													6	32					0	0	0.001168	0	0
SEMG2	6407	broad.mit.edu	37	20	43851693	43851693	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:43851693G>A	ENST00000372769.3	+	2	1510	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	474	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TTCAAGTACAGAAGAAAGACG	0.383000													6	26					0	0	0.001984	0	0
TENM1	10178	broad.mit.edu	37	X	123663788	123663788	+	Silent	SNP	A	A	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:123663788A>T	ENST00000422452.2	-	16	2760	c.2697T>A	c.(2695-2697)acT>acA	p.T899T	TENM1_ENST00000371130.3_Silent_p.T899T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CCACTAGAGGAGTTCCATCTA	0.458000													5	38					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179577141	179577141	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179577141C>T	ENST00000589042.1	-	95	27732	c.27508G>A	c.(27508-27510)Gaa>Aaa	p.E9170K	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E8853K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E7926K|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8853							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGGAATTTCCAGGATTGCC	0.408000													5	63					0	0	0.001168	0	0
MUC17	140453	broad.mit.edu	37	7	100678710	100678710	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:100678710C>T	ENST00000306151.4	+	3	4077	c.4013C>T	c.(4012-4014)cCt>cTt	p.P1338L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1338	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGAAGAACTCCTTTAACAAGT	0.458000													9	150					0	0	0.004482	0	0
ITK	3702	broad.mit.edu	37	5	156671483	156671483	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:156671483G>A	ENST00000422843.3	+	13	1596	c.1444G>A	c.(1444-1446)Gac>Aac	p.D482N	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	482	Protein kinase.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATCCACAGAGACTTGGTATG	0.512000			T	SYK	peripheral T-cell lymphoma								5	96					0	0	0.001168	0	0
MYBPH	4608	broad.mit.edu	37	1	203138109	203138109	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:203138109C>T	ENST00000255416.4	-	9	1399	c.1342G>A	c.(1342-1344)Gat>Aat	p.D448N		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	448	Ig-like C2-type 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		ACCCCAGAATCAAAGGGGCTG	0.562000													6	51					0	0	0.001168	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542973	133542973	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:133542973C>T	ENST00000409261.1	-	14	1784	c.1411G>A	c.(1411-1413)Gat>Aat	p.D471N	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D471N	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	471							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GAATCTAGATCATAAACAAAT	0.502000													6	50					0	0	0.001168	0	0
CFAP54	144535	broad.mit.edu	37	12	97045486	97045486	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:97045486C>T	ENST00000524981.3	+	3	346	c.346C>T	c.(346-348)Cct>Tct	p.P116S				Q6ZTY8	CL063_HUMAN		90										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TAAAACATTTCCTATTAGCCA	0.383000													7	33					0	0	0.003080	0	0
NRXN1	9378	broad.mit.edu	37	2	51255169	51255169	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:51255169C>T	ENST00000404971.1	-	2	1582	c.243G>A	c.(241-243)ctG>ctA	p.L81L	NRXN1_ENST00000406316.2_Silent_p.L81L|NRXN1_ENST00000406859.3_Silent_p.L81L|NRXN1_ENST00000401669.2_Silent_p.L81L|NRXN1_ENST00000405472.3_Silent_p.L81L|NRXN1_ENST00000405581.1_Silent_p.L81L|NRXN1_ENST00000402717.3_Silent_p.L81L	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	81	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCGTCAGAATCAGCTCCAGGA	0.667000													4	12					0	0	0.000602	0	0
DEPDC5	9681	broad.mit.edu	37	22	32200848	32200848	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr22:32200848C>T	ENST00000400246.1	+	17	1306	c.1164C>T	c.(1162-1164)ccC>ccT	p.P388P	DEPDC5_ENST00000535622.1_Silent_p.P388P|DEPDC5_ENST00000400249.2_Silent_p.P388P|DEPDC5_ENST00000536766.1_Silent_p.P360P|DEPDC5_ENST00000382112.3_Silent_p.P388P|DEPDC5_ENST00000382105.2_Silent_p.P388P|DEPDC5_ENST00000400242.3_Silent_p.P388P|DEPDC5_ENST00000382111.2_Silent_p.P388P|DEPDC5_ENST00000400248.1_Silent_p.P388P|DEPDC5_ENST00000266091.3_Silent_p.P388P			O75140	DEPD5_HUMAN	DEP domain containing 5	388					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GGAGTGCTCCCCGTGATTCTC	0.448000													9	108					0	0	0.000978	0	0
WDR60	55112	broad.mit.edu	37	7	158695278	158695278	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:158695278C>T	ENST00000407559.3	+	10	1507	c.1349C>T	c.(1348-1350)cCc>cTc	p.P450L		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	450										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		GAAAAGGAGCCCAGGACAGGT	0.428000													6	54					0	0	0.001168	0	0
MBL2	4153	broad.mit.edu	37	10	54530441	54530441	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:54530441C>T	ENST00000373968.3	-	2	357	c.293G>A	c.(292-294)gGa>gAa	p.G98E	MBL2_ENST00000493043.1_5'UTR	NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	98	Collagen-like.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						CGGACTTTTTCCAGGGTCTCC	0.577000													5	37					0	0	0.000602	0	0
ARMC10	83787	broad.mit.edu	37	7	102738815	102738815	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:102738815C>T	ENST00000323716.3	+	7	1239	c.847C>T	c.(847-849)Cta>Tta	p.L283L	ARMC10_ENST00000454559.1_Silent_p.L189L|ARMC10_ENST00000441711.2_Silent_p.L248L|ARMC10_ENST00000428183.2_Silent_p.L224L|ARMC10_ENST00000425331.1_Silent_p.L224L|ARMC10_ENST00000541300.1_Silent_p.L165L	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	283					regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						AGTACTTACGCTATTTCAGAA	0.368000													7	80					0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	9089545	9089545	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:9089545G>A	ENST00000397910.4	-	1	2473	c.2270C>T	c.(2269-2271)cCt>cTt	p.P757L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	757	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAGATTTCAGGAGTCCCTGT	0.468000													11	70					0	0	0.000978	0	0
AVPR1B	553	broad.mit.edu	37	1	206224640	206224640	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:206224640C>T	ENST00000367126.4	+	1	665	c.200C>T	c.(199-201)tCc>tTc	p.S67F		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	67					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CGCAAGCGCTCCCGCATGCAC	0.667000													4	41					0	0	0.000602	0	0
USP54	159195	broad.mit.edu	37	10	75302868	75302868	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:75302868G>A	ENST00000339859.4	-	5	497	c.397C>T	c.(397-399)Cac>Tac	p.H133Y	USP54_ENST00000428547.1_Intron|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000319786.7_Missense_Mutation_p.H133Y|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000408019.1_Missense_Mutation_p.H133Y			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	133					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ATGTGGAAGTGAATTCTCATC	0.378000													6	60					0	0	0.001984	0	0
PRB4	5545	broad.mit.edu	37	12	11461597	11461597	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:11461597C>T	ENST00000279575.1	-	3	353	c.320G>A	c.(319-321)gGa>gAa	p.G107E	PRB4_ENST00000535904.1_Missense_Mutation_p.G107E|PRB4_ENST00000445719.2_Missense_Mutation_p.G107E	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	149	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGACTGGTTTCCTCCTTGTGG	0.612000										HNSCC(22;0.051)			6	77					0	0	0.001984	0	0
SKP2	6502	broad.mit.edu	37	5	36168422	36168422	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:36168422C>T	ENST00000274255.6	+	5	740	c.544C>T	c.(544-546)Cgt>Tgt	p.R182C	SKP2_ENST00000546211.1_Intron|SKP2_ENST00000508514.1_Intron|SKP2_ENST00000274254.5_Missense_Mutation_p.R182C	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	182					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAGCCCTTTTCGTGTACAGCA	0.498000													9	85					0	0	0.004482	0	0
PFN4	375189	broad.mit.edu	37	2	24345367	24345367	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:24345367C>A	ENST00000313213.4	-	2	410	c.39G>T	c.(37-39)ttG>ttT	p.L13F	PFN4_ENST00000465360.1_Intron	NM_199346.1	NP_955378.1	Q8NHR9	PROF4_HUMAN	profilin family, member 4	13					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding			breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTGGTTCCCAAGAGGGTGT	0.453000													7	82					0.00448238	0.0090832	0.004482	1	0
C14orf39	317761	broad.mit.edu	37	14	60925443	60925443	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:60925443C>T	ENST00000321731.3	-	14	1291	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	378										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		GTCCCTTTATCTCCATACTCA	0.274000													5	49					0	0	0.001984	0	0
CEACAM4	1089	broad.mit.edu	37	19	42133272	42133272	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:42133272G>A	ENST00000221954.2	-	1	170	c.60C>T	c.(58-60)atC>atT	p.I20I	CEACAM4_ENST00000600925.1_Silent_p.I20I	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	20						integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCTCACCTGTGATCAGGAGCC	0.662000													4	15					0	0	0.000248	0	0
ZNF683	257101	broad.mit.edu	37	1	26694970	26694970	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:26694970G>A	ENST00000436292.1	-	2	213	c.93C>T	c.(91-93)ttC>ttT	p.F31F	ZNF683_ENST00000374204.1_Silent_p.F31F|ZNF683_ENST00000403843.1_Silent_p.F31F|ZNF683_ENST00000349618.3_Silent_p.F31F			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	31					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GGAAGAGCTGGAAGTCCAGGC	0.537000													5	36					0	0	0.001168	0	0
CADPS	8618	broad.mit.edu	37	3	62535683	62535683	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:62535683G>A	ENST00000383710.4	-	11	2210	c.1861C>T	c.(1861-1863)Cgg>Tgg	p.R621W	CADPS_ENST00000357948.3_Missense_Mutation_p.R621W|CADPS_ENST00000283269.9_Missense_Mutation_p.R621W	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	621	PH.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CCCGTGGCCCGATACATGGCC	0.577000													5	36					0	0	0.000602	0	0
ZNF536	9745	broad.mit.edu	37	19	31039516	31039516	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:31039516G>A	ENST00000355537.3	+	4	3137	c.2990G>A	c.(2989-2991)aGc>aAc	p.S997N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	997					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GTGCAGGACAGCATTGCATGG	0.582000													9	53					0	0	0.000443	0	0
RNASET2	8635	broad.mit.edu	37	6	167352439	167352439	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:167352439G>A	ENST00000507747.1	-	6	331	c.332C>T	c.(331-333)cCc>cTc	p.P111L	RNASET2_ENST00000496851.2_5'UTR|RNASET2_ENST00000476238.2_Silent_p.S130S|RNASET2_ENST00000508775.1_Silent_p.S130S|RNASET2_ENST00000366855.6_Silent_p.S92S																							ACTTCTTCTGGGAGTTGAGCG	0.552000													7	37					0	0	0.001984	0	0
RGAG1	57529	broad.mit.edu	37	X	109694490	109694490	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:109694490G>A	ENST00000465301.2	+	3	891	c.645G>A	c.(643-645)gtG>gtA	p.V215V	RGAG1_ENST00000540313.1_Silent_p.V215V	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	215										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ATCCTGGAGTGATGTCTACAC	0.473000													9	86					0	0	0.000673	0	0
SNHG14	104472715	broad.mit.edu	37	15	25442776	25442776	+	RNA	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:25442776C>T	ENST00000424208.1	+	0	1636				SNHG14_ENST00000424333.1_RNA|SNORD115-15_ENST00000364809.1_RNA	NR_003305.1																						ACTTAAAAATCATGCTCAATA	0.483000													9	122					0	0	0.003163	0	0
MROH2B	133558	broad.mit.edu	37	5	41015563	41015563	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:41015563C>T	ENST00000399564.4	-	29	3352	c.2902G>A	c.(2902-2904)Gaa>Aaa	p.E968K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E523K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TGCAGTCTTTCCACTTCCAAG	0.408000													5	20					0	0	0.001168	0	0
OR2A12	346525	broad.mit.edu	37	7	143793007	143793007	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:143793007G>A	ENST00000408949.2	+	1	867	c.807G>A	c.(805-807)cgG>cgA	p.R269R		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CTCAAGAACGGAGGAAGATCC	0.527000													7	104					0	0	0.001984	0	0
SAMD9	54809	broad.mit.edu	37	7	92734271	92734271	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:92734271G>A	ENST00000379958.2	-	3	1409	c.1140C>T	c.(1138-1140)ttC>ttT	p.F380F		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	380						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTTGCTCTGAATTTTTCTT	0.323000													6	53					0	0	0.001984	0	0
PRDM12	59335	broad.mit.edu	37	9	133553968	133553968	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:133553968C>T	ENST00000253008.2	+	4	683	c.623C>T	c.(622-624)aCc>aTc	p.T208I		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		TCACACAACACCTTCCTGGGG	0.597000													6	32					0	0	0.001168	0	0
NOMO1	23420	broad.mit.edu	37	16	14972641	14972641	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:14972641C>T	ENST00000287667.7	+	23	2878	c.2707C>T	c.(2707-2709)Cgt>Tgt	p.R903C		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	903						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TGGCCTGTTTCGTTCCAACCT	0.532000													7	60					0	0	0.000673	0	0
SGCZ	137868	broad.mit.edu	37	8	13965738	13965738	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:13965738T>G	ENST00000382080.1	-	6	1269	c.554A>C	c.(553-555)gAa>gCa	p.E185A	SGCZ_ENST00000421524.2_Missense_Mutation_p.E138A	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	172					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TACGGCTCCTTCAGTGCCTGG	0.463000													4	16					0	0	0.000248	0	0
FAM188B	84182	broad.mit.edu	37	7	30891837	30891837	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:30891837C>T	ENST00000265299.6	+	11	1630	c.1553C>T	c.(1552-1554)tCg>tTg	p.S518L	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	518										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTTAGGGCTTCGAGAACACAG	0.463000													5	35					0	0	0.001984	0	0
REG4	83998	broad.mit.edu	37	1	120337285	120337285	+	Missense_Mutation	SNP	C	C	T	rs150927973		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:120337285C>T	ENST00000354219.1	-	7	872	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	REG4_ENST00000530654.1_3'UTR|REG4_ENST00000256585.5_Missense_Mutation_p.E145K	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	145	C-type lectin.					extracellular region	sugar binding	p.E145K(2)		central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		TTGTTGCATTCGTTGCTGCTC	0.423000													18	206					0	0	0.001882	0	0
ACAP2	23527	broad.mit.edu	37	3	195022715	195022715	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:195022715G>A	ENST00000326793.6	-	14	1535	c.1305C>T	c.(1303-1305)atC>atT	p.I435I		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	435	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						CGGAGCACTCGATACACAAGG	0.522000													7	65					0	0	0.001984	0	0
SPTA1	6708	broad.mit.edu	37	1	158639575	158639575	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:158639575G>A	ENST00000368148.3	-	13	1781	c.1599_splice	c.e13-1	p.T534_splice	SPTA1_ENST00000368147.3_Splice_Site_p.T534_splice	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	534					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTGTCTACAGTCTGAAAAAA	0.403000													6	53					0	0	0.001168	0	0
AMMECR1L	83607	broad.mit.edu	37	2	128627089	128627089	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:128627089G>A	ENST00000272647.5	-	6	923	c.663C>T	c.(661-663)ttC>ttT	p.F221F	AMMECR1L_ENST00000393001.1_Silent_p.F221F	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	221	AMMECR1.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		TTTCATTAATGAATTCAATTC	0.368000													5	38					0	0	0.001168	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92459244	92459244	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:92459244G>A	ENST00000318445.6	+	2	416	c.202G>A	c.(202-204)Gag>Aag	p.E68K	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.E68K	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	68					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GACCACCCTGGAGCGTAGGTT	0.607000													5	28					0	0	0.001984	0	0
PAPPA	5069	broad.mit.edu	37	9	119033629	119033629	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:119033629A>T	ENST00000328252.3	+	9	3256	c.2887A>T	c.(2887-2889)Atg>Ttg	p.M963L	PAPPA_ENST00000534838.1_Start_Codon_SNP_p.M1L	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	963					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATGCGACGACATGAATAAGAT	0.433000													9	74					0	0	0.001855	0	0
OR6N2	81442	broad.mit.edu	37	1	158746824	158746824	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:158746824G>A	ENST00000339258.1	-	1	601	c.602C>T	c.(601-603)gCc>gTc	p.A201V		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AGCATTAATGGCAAAGTCCAC	0.388000													5	28					0	0	0.000602	0	0
ACSL5	51703	broad.mit.edu	37	10	114136200	114136200	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:114136200T>C	ENST00000356116.1	+	1	245	c.133T>C	c.(133-135)Tcg>Ccg	p.S45P	ACSL5_ENST00000479936.1_Intron|ACSL5_ENST00000393081.1_Intron|ACSL5_ENST00000354655.4_Intron|ACSL5_ENST00000433418.1_5'UTR|ACSL5_ENST00000354273.4_5'UTR	NM_016234.3	NP_057318.2	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	0					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TGCGGCCCCCTCGCAGGGTAA	0.597000													5	44					0	0	0.000602	0	0
PPM1E	22843	broad.mit.edu	37	17	57058163	57058163	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:57058163G>A	ENST00000308249.2	+	7	2168	c.2039G>A	c.(2038-2040)aGa>aAa	p.R680K		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	689					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			AAGTGGCACAGATTCAGGTTT	0.438000													6	56					0	0	0.001168	0	0
LAMA2	3908	broad.mit.edu	37	6	129636653	129636653	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:129636653C>T	ENST00000421865.2	+	25	3637	c.3588C>T	c.(3586-3588)ccC>ccT	p.P1196P		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1196	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCATTCTACCCCTGGTAGATG	0.463000													5	28					0	0	0.001168	0	0
OR2L2	26246	broad.mit.edu	37	1	248201654	248201654	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:248201654C>T	ENST00000366479.2	+	1	181	c.85C>T	c.(85-87)Ctc>Ttc	p.L29F	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CGTATTCACCCTCATTTTTCT	0.368000													6	71					0	0	0.001168	0	0
OR14C36	127066	broad.mit.edu	37	1	248512922	248512922	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:248512922C>T	ENST00000317861.1	+	1	846	c.846C>T	c.(844-846)ctC>ctT	p.L282L		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TGCCTCCCCTCTTTAACCCTA	0.403000													5	72					0	0	0.001168	0	0
XDH	7498	broad.mit.edu	37	2	31570492	31570492	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:31570492G>A	ENST00000379416.3	-	29	3220	c.3172C>T	c.(3172-3174)Ccc>Tcc	p.P1058S		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1058					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TTAGAGGTGGGGATTTTCAGA	0.542000													7	43					0	0	0.004482	0	0
C6orf118	168090	broad.mit.edu	37	6	165715342	165715342	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:165715342C>T	ENST00000543069.1	-	2	738	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	C6orf118_ENST00000230301.8_Missense_Mutation_p.E157K			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	157										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TTCTTTTCTTCCTTCCCCTCT	0.612000													6	36					0	0	0.003080	0	0
UNC93A	54346	broad.mit.edu	37	6	167709569	167709569	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:167709569C>T	ENST00000230256.3	+	3	494	c.319C>T	c.(319-321)Ctg>Ttg	p.L107L	UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Silent_p.L107L	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	107						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GGCCGCCCCGCTGTGGTCTGC	0.547000													6	41					0	0	0.001984	0	0
KIAA0947	23379	broad.mit.edu	37	5	5462565	5462565	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:5462565A>T	ENST00000296564.7	+	13	3340	c.3118A>T	c.(3118-3120)Agc>Tgc	p.S1040C		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1040										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGATTCTACCAGCACACCACA	0.473000													6	82					0	0	0.001984	0	0
ITGAD	3681	broad.mit.edu	37	16	31421742	31421742	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:31421742G>A	ENST00000389202.2	+	11	1159	c.1110G>A	c.(1108-1110)ggG>ggA	p.G370G		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	370					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGCTGTGGGGAGCTTTAGCT	0.562000													5	49					0	0	0.000602	0	0
FBXO18	84893	broad.mit.edu	37	10	5948022	5948022	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:5948022C>T	ENST00000379999.5	+	4	437	c.333C>T	c.(331-333)atC>atT	p.I111I	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000362091.4_Silent_p.I60I|FBXO18_ENST00000470089.1_3'UTR	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	60					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AAAGATGCATCCCTGAGTTCT	0.488000													4	35					0	0	0.000602	0	0
VNN1	8876	broad.mit.edu	37	6	133032891	133032891	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:133032891G>A	ENST00000367928.4	-	2	311	c.298C>T	c.(298-300)Cca>Tca	p.P100S		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	100	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TCAGGGTCTGGGATGTCCTCC	0.403000													4	30					0	0	0.000248	0	0
ZAN	7455	broad.mit.edu	37	7	100358106	100358106	+	RNA	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:100358106C>T	ENST00000542585.1	+	0	3937				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.F1263F(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGACGGAGTTCGGTTTGCGGG	0.587000													8	38					0	0	0.003080	0	0
FLJ33360	401172	broad.mit.edu	37	5	6337355	6337355	+	RNA	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:6337355C>T	ENST00000507444.1	-	0	50					NR_028351.1																						ACAGCTTTTTCGATGCTCACT	0.527000													5	25					0	0	0.000602	0	0
PADI3	51702	broad.mit.edu	37	1	17603076	17603076	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:17603076C>T	ENST00000375460.3	+	12	1410	c.1370C>T	c.(1369-1371)cCc>cTc	p.P457L		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	457					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AAGGTGCAGCCCCCCGTGGAG	0.572000													5	28					0	0	0.001168	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188523	140188523	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:140188523C>T	ENST00000530339.1	+	1	1751	c.1751C>T	c.(1750-1752)tCg>tTg	p.S584L	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.S584L|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S584L|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCATGGTCGGTGGGTGTG	0.672000													6	58					0	0	0.003080	0	0
ATG7	10533	broad.mit.edu	37	3	11340188	11340188	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:11340188G>A	ENST00000354449.3	+	2	44	c.19G>A	c.(19-21)Gat>Aat	p.D7N	ATG7_ENST00000354956.5_Missense_Mutation_p.D7N|ATG7_ENST00000469654.2_3'UTR|ATG7_ENST00000446450.2_Missense_Mutation_p.D7N	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	7					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						AGCTACGGGGGATCCTGGACT	0.433000													6	73					0	0	0.003080	0	0
ABCF1	23	broad.mit.edu	37	6	30551480	30551480	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:30551480C>T	ENST00000326195.8	+	11	1123	c.1011C>T	c.(1009-1011)ccC>ccT	p.P337P	ABCF1_ENST00000376545.3_Silent_p.P299P|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	337	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TGGTAGGACCCAATGGGTGAG	0.547000													5	30					0	0	0.000602	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995902	140995902	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:140995902C>T	ENST00000285879.4	+	4	2998	c.2712C>T	c.(2710-2712)ttC>ttT	p.F904F	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	904							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCCTTGTTCACTTATACAC	0.478000										HNSCC(15;0.026)			7	136					0	0	0.004482	0	0
PDGFD	80310	broad.mit.edu	37	11	103780427	103780427	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:103780427G>A	ENST00000302251.5	-	7	1541	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	PDGFD_ENST00000393158.2_Nonsense_Mutation_p.R370*	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	370					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)		TTCTCTTATCGAGGTGGTCTT	0.448000													12	59					0	0	0.001855	0	0
UGT2B4	7363	broad.mit.edu	37	4	70350973	70350973	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:70350973C>T	ENST00000305107.6	-	5	1309	c.1263G>A	c.(1261-1263)tcG>tcA	p.S421S	UGT2B4_ENST00000381096.3_Silent_p.S285S|UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000512583.1_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	421					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AGTCTGTACTCGACATTGTGT	0.418000													5	67					0	0	0.001984	0	0
KIF1B	23095	broad.mit.edu	37	1	10405970	10405970	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:10405970C>T	ENST00000377086.1	+	35	3958	c.3756C>T	c.(3754-3756)ctC>ctT	p.L1252L	KIF1B_ENST00000263934.6_Silent_p.L1206L|KIF1B_ENST00000377081.1_Silent_p.L1252L|KIF1B_ENST00000465635.1_3'UTR			O60333	KIF1B_HUMAN	kinesin family member 1B	1252					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGTATGACCTCCTGGTTTGGT	0.378000													4	38					0	0	0.000602	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956092	18956092	+	Silent	SNP	A	A	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:18956092A>G	ENST00000302797.3	-	1	464	c.240T>C	c.(238-240)ctT>ctC	p.L80L	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	80					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGGAATATATAAGGCGGCCGC	0.512000													9	122					0	0	0.004482	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118005454	118005454	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:118005454C>T	ENST00000310754.4	-	1	1282	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	366					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GAAGATTTCTCTTTCCTCTTT	0.368000													9	107					0	0	0.001368	0	0
IL4I1	259307	broad.mit.edu	37	19	50399093	50399093	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:50399093C>T	ENST00000595948.1	-	5	917	c.297G>A	c.(295-297)gtG>gtA	p.V99V	IL4I1_ENST00000341114.3_Silent_p.V99V|IL4I1_ENST00000391826.2_Silent_p.V77V	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	77						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		CATCGCTGAGCACCTTGGCGG	0.657000													6	63					0	0	0.000443	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077810	19077810	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:19077810C>T	ENST00000329773.2	-	2	227	c.140G>A	c.(139-141)gGa>gAa	p.G47E		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	47					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AAACCCGTTTCCTACCAGCCC	0.582000													7	60					0	0	0.001984	0	0
C19orf55	148137	broad.mit.edu	37	19	36256040	36256040	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:36256040C>T	ENST00000544099.1	+	7	795	c.732C>T	c.(730-732)atC>atT	p.I244I	C19orf55_ENST00000396908.4_Silent_p.I244I			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	244	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGACCTTCATCCCTGACTCCA	0.627000													5	21					0	0	0.000602	0	0
SLC16A12	387700	broad.mit.edu	37	10	91222168	91222168	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:91222168G>A	ENST00000341233.4	-	3	468	c.78C>T	c.(76-78)ttC>ttT	p.F26F	SLC16A12_ENST00000371790.4_Silent_p.F56F|RP11-168O10.6_ENST00000454270.1_RNA	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	26						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						TGGTAACAAGGAAACAGCCAG	0.438000													5	23					0	0	0.001168	0	0
NIPBL	25836	broad.mit.edu	37	5	36962337	36962337	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:36962337C>T	ENST00000282516.8	+	6	1070	c.571C>T	c.(571-573)Cat>Tat	p.H191Y	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.H191Y	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	191					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GCCATATTCCCATCCTTCAAG	0.438000													6	108					0	0	0.001168	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055091	72055091	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:72055091C>T	ENST00000555818.1	+	2	850	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R168C|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R168C	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	168					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AAAAGCTCTTCGCAGAATACG	0.468000													5	29					0	0	0.000602	0	0
HM13	81502	broad.mit.edu	37	20	30137904	30137904	+	Missense_Mutation	SNP	C	C	T	rs17855400		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:30137904C>T	ENST00000335574.5	+	7	828	c.704C>T	c.(703-705)tCc>tTc	p.S235F	HM13_ENST00000376127.3_Missense_Mutation_p.S193F|HM13_ENST00000340852.5_Missense_Mutation_p.S235F|HM13_ENST00000492709.1_3'UTR|HM13_ENST00000398174.3_Missense_Mutation_p.S235F	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	235				S -> F (in Ref. 11; AAH08938/AAH08959).	membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			GTGGCCAAGTCCTTCGAGGCA	0.562000													12	71					0	0	0.001368	0	0
SMYD5	10322	broad.mit.edu	37	2	73441397	73441397	+	Translation_Start_Site	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:73441397G>A	ENST00000389501.4	+	1	48	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	1							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						CGCCCAAGATGGCGGCCTCCA	0.692000													7	95					0	0	0.004482	0	0
APOB	338	broad.mit.edu	37	2	21229048	21229048	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:21229048C>T	ENST00000233242.1	-	26	10819	c.10692G>A	c.(10690-10692)gaG>gaA	p.E3564E		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3564					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCGTACTGTGCTCCCAGAGGG	0.458000													15	163					0	0	0.004007	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44506092	44506092	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:44506092C>T	ENST00000255152.2	+	2	1104	c.895C>T	c.(895-897)Cct>Tct	p.P299S	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.P293S	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	299							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GGAGATCTTTCCTGCTGCCCG	0.498000													5	51					0	0	0.001168	0	0
POM121L12	285877	broad.mit.edu	37	7	53103987	53103987	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:53103987G>A	ENST00000408890.4	+	1	639	c.623G>A	c.(622-624)cGg>cAg	p.R208Q		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	208										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGTGGCAGGCGGAACCTGCAG	0.667000													11	53					0	0	0.000978	0	0
ZBBX	79740	broad.mit.edu	37	3	167000194	167000194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:167000194G>A	ENST00000392766.2	-	19	2309	c.1969C>T	c.(1969-1971)Cga>Tga	p.R657*	ZBBX_ENST00000455345.2_Nonsense_Mutation_p.R696*|ZBBX_ENST00000307529.5_Nonsense_Mutation_p.R696*|ZBBX_ENST00000392764.1_Nonsense_Mutation_p.R628*|ZBBX_ENST00000392767.2_Nonsense_Mutation_p.R657*	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	657	Ser-rich.					intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CTTCTTGATCGAGGATGAGAG	0.373000													6	92					0	0	0.001984	0	0
FAM47A	158724	broad.mit.edu	37	X	34149091	34149091	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:34149091C>T	ENST00000346193.3	-	1	1356	c.1305G>A	c.(1303-1305)ggG>ggA	p.G435G		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	435										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCAGCGTCCTCCCAGAATCCA	0.552000													4	32					0	0	0.001168	0	0
MPZL2	10205	broad.mit.edu	37	11	118133812	118133812	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:118133812G>A	ENST00000278937.2	-	2	187	c.58_splice	c.e2-1	p.A20_splice	MPZL2_ENST00000438295.2_Splice_Site_p.A20_splice|MPZL2_ENST00000525647.1_5'UTR	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	20					anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		AGGCCAAAGAGCTGCAATGAA	0.428000													7	64					0	0	0.004482	0	0
ARID1B	57492	broad.mit.edu	37	6	157528921	157528921	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:157528921C>T	ENST00000346085.5	+	20	6647	c.6646C>T	c.(6646-6648)Ctt>Ttt	p.L2216F	ARID1B_ENST00000275248.4_Missense_Mutation_p.L2198F|ARID1B_ENST00000367148.1_Missense_Mutation_p.L2256F|ARID1B_ENST00000350026.5_Missense_Mutation_p.L2203F	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2203					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTCGGAATTCCTTTTGCACGA	0.552000													13	81					0	0	0.001368	0	0
ZPLD1	131368	broad.mit.edu	37	3	102183056	102183056	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:102183056G>A	ENST00000306176.1	+	7	870	c.770G>A	c.(769-771)gGa>gAa	p.G257E	ZPLD1_ENST00000466937.1_Missense_Mutation_p.G241E|ZPLD1_ENST00000491959.1_Missense_Mutation_p.G241E	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	241	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ACCCCATCAGGAAACCCAAAT	0.323000													5	60					0	0	0.001168	0	0
MTM1	4534	broad.mit.edu	37	X	149787544	149787544	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:149787544G>A	ENST00000370396.2	+	6	430	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	MTM1_ENST00000306167.7_Intron|MTM1_ENST00000413012.2_Missense_Mutation_p.E89K|MTM1_ENST00000543350.1_Missense_Mutation_p.E11K|MTM1_ENST00000542741.1_Missense_Mutation_p.E31K	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	126					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGAAACAGGAAGGCCACAG	0.468000													6	49					0	0	0.001984	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65715022	65715022	+	RNA	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:65715022G>A	ENST00000532620.1	+	0	957							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						GGAGGGGGTCGATCTCAGAGG	0.642000													8	36					0	0	0.004482	0	0
FABP1	2168	broad.mit.edu	37	2	88425751	88425751	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:88425751C>T	ENST00000393750.3	-	2	215	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000295834.3_Missense_Mutation_p.E62K			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	62					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						ACCGTGAATTCGTTTTGGATC	0.517000													8	106					0	0	0.004482	0	0
THOC2	57187	broad.mit.edu	37	X	122769982	122769982	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:122769982C>T	ENST00000245838.8	-	19	1997	c.1966G>A	c.(1966-1968)Gat>Aat	p.D656N	THOC2_ENST00000355725.4_Missense_Mutation_p.D656N|THOC2_ENST00000491737.1_Missense_Mutation_p.D541N	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	656					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CCAGCAAGATCAATTGGATAT	0.328000													7	55					0	0	0.000443	0	0
MOXD1	26002	broad.mit.edu	37	6	132645130	132645130	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:132645130G>A	ENST00000367963.3	-	7	1171	c.1053C>T	c.(1051-1053)atC>atT	p.I351I	MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Silent_p.I283I	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	351					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TCCCTGGAGGGATGGTATGGA	0.493000													5	24					0	0	0.000602	0	0
LOC400867	400867	broad.mit.edu	37	21	40250597	40250597	+	RNA	SNP	T	T	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr21:40250597T>C	ENST00000380931.2	-	0	2440																											TGGGTGAAAATAGCCTGACTT	0.502000													4	27					0	0	0.000248	0	0
PCLO	27445	broad.mit.edu	37	7	82579668	82579668	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:82579668C>T	ENST00000423517.2	-	6	10573	c.10236G>A	c.(10234-10236)aaG>aaA	p.K3412K	PCLO_ENST00000333891.8_Silent_p.K3412K|PCLO_ENST00000437081.1_Silent_p.K132K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3343					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGAACTTCTCTTTTTGGGTT	0.418000													5	36					0	0	0.000602	0	0
LHFPL1	340596	broad.mit.edu	37	X	111874653	111874653	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:111874653G>A	ENST00000371968.3	-	4	897	c.658C>T	c.(658-660)Cct>Tct	p.P220S	LHFPL1_ENST00000536453.1_Missense_Mutation_p.P187S|LHFPL1_ENST00000478229.1_5'UTR	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	220						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						AAAGCTCAAGGTTTGAGGCAA	0.463000													6	49					0	0	0.001984	0	0
TNXB	7148	broad.mit.edu	37	6	32065621	32065621	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:32065621C>T	ENST00000375244.3	-	2	556	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	TNXB_ENST00000479795.1_Missense_Mutation_p.E119K|TNXB_ENST00000375247.2_Missense_Mutation_p.E119K			P22105	TENX_HUMAN	tenascin XB	119					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTGCACTGTTCCTTGAGCCCC	0.622000													6	105					0	0	0.001168	0	0
LRIT2	340745	broad.mit.edu	37	10	85984764	85984764	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:85984764C>T	ENST00000372113.4	-	2	222	c.217G>A	c.(217-219)Ggg>Agg	p.G73R	LRIT2_ENST00000538192.1_Missense_Mutation_p.G73R	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	73						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						ATGAAAGACCCTTGGGGCATC	0.463000													5	59					0	0	0.000602	0	0
IFIT1B	439996	broad.mit.edu	37	10	91143829	91143829	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:91143829C>T	ENST00000371809.3	+	2	839	c.759C>T	c.(757-759)gtC>gtT	p.V253V	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	253							binding			endometrium(2)|large_intestine(3)|lung(8)	13						AGGCCTATGTCTTTCAATATG	0.453000													7	109					0	0	0.003080	0	0
COL11A1	1301	broad.mit.edu	37	1	103385889	103385889	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:103385889G>A	ENST00000358392.2	-	49	4093	c.3776C>T	c.(3775-3777)tCa>tTa	p.S1259L	COL11A1_ENST00000353414.4_Missense_Mutation_p.S1208L|COL11A1_ENST00000370096.3_Missense_Mutation_p.S1247L|COL11A1_ENST00000512756.1_Missense_Mutation_p.S1131L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1247	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCACCAACTGAACCAACAGA	0.363000													7	92					0	0	0.004482	0	0
MTNR1B	4544	broad.mit.edu	37	11	92715363	92715363	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:92715363C>T	ENST00000257068.2	+	2	980	c.974C>T	c.(973-975)gCc>gTc	p.A325V		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	325					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	ATCCTCTTGGCCCTTTGGAAC	0.542000													6	227					0	0	0.001168	0	0
MTMR12	54545	broad.mit.edu	37	5	32248159	32248159	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:32248159G>A	ENST00000382142.3	-	10	1140	c.970C>T	c.(970-972)Ctg>Ttg	p.L324L	MTMR12_ENST00000264934.5_Silent_p.L324L|MTMR12_ENST00000280285.5_Silent_p.L324L	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	324	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATTTCCTGCAGGGACAGGAAG	0.378000													4	36					0	0	0.001168	0	0
RP1L1	94137	broad.mit.edu	37	8	10466091	10466091	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:10466091C>T	ENST00000382483.3	-	4	5740	c.5517G>A	c.(5515-5517)gaG>gaA	p.E1839E		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1839					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCCCTTCAGCCTCCGGGGCCT	0.632000													11	72					0	0	0.000673	0	0
TIE1	7075	broad.mit.edu	37	1	43777423	43777423	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:43777423C>T	ENST00000372476.3	+	10	1494	c.1415C>T	c.(1414-1416)tCt>tTt	p.S472F	TIE1_ENST00000433781.2_Missense_Mutation_p.S117F	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	472	Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTCTCGTTCTCTGGGGATGGA	0.657000													5	31					0	0	0.000602	0	0
LGR6	59352	broad.mit.edu	37	1	202205081	202205081	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:202205081C>T	ENST00000367278.3	+	4	477	c.388C>T	c.(388-390)Ccc>Tcc	p.P130S	LGR6_ENST00000255432.7_Missense_Mutation_p.P78S|LGR6_ENST00000439764.2_Missense_Mutation_p.P87S	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	130						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGGAGGAATCCCCGCAGAGGC	0.607000													5	29					0	0	0.001984	0	0
RPS2	6187	broad.mit.edu	37	16	2012881	2012881	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:2012881G>A	ENST00000529806.1	-	3	501	c.315C>T	c.(313-315)ggC>ggT	p.G105G	RPS2_ENST00000526522.1_Intron|RPS2_ENST00000343262.4_Silent_p.G135G|RPS2_ENST00000530225.1_Silent_p.G135G			P15880	RS2_HUMAN	ribosomal protein S2	135	S5 DRBM.				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GACCGACGTGGCCATTGTAGT	0.617000													6	20					0	0	0.003080	0	0
TUBA1B	10376	broad.mit.edu	37	12	49523061	49523061	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:49523061C>G	ENST00000336023.5	-	3	433	c.339G>C	c.(337-339)gaG>gaC	p.E113D	RP11-386G11.10_ENST00000547387.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	113					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						GGTCAATGATCTCCTTGCCAA	0.502000													9	84					0	0	0.000978	0	0
CDCP2	200008	broad.mit.edu	37	1	54610287	54610287	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:54610287C>T	ENST00000371330.1	-	2	1126	c.279G>A	c.(277-279)ggG>ggA	p.G93G	RP11-446E24.4_ENST00000525949.1_5'UTR|RP11-446E24.4_ENST00000311841.7_3'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	93	CUB 1.					extracellular region		p.G93D(1)|p.G93G(1)		kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CTGGTGAGGCCCCATTGTAGA	0.597000													4	16					0	0	0.000602	0	0
SCN5A	6331	broad.mit.edu	37	3	38607966	38607966	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:38607966C>T	ENST00000413689.1	-	21	3967	c.3774G>A	c.(3772-3774)tgG>tgA	p.W1258*	SCN5A_ENST00000455624.2_Nonsense_Mutation_p.W1257*|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.W1204*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.W1204*|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.W1204*|SCN5A_ENST00000443581.1_Nonsense_Mutation_p.W1257*|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.W1258*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.W1257*|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.W1258*|SCN5A_ENST00000333535.4_Nonsense_Mutation_p.W1258*	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1258					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CGTAGGCCACCCACTTGAGCA	0.532000													4	43					0	0	0.000248	0	0
C10orf120	399814	broad.mit.edu	37	10	124457257	124457257	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:124457257G>A	ENST00000329446.4	-	3	1031	c.1000C>T	c.(1000-1002)Cat>Tat	p.H334Y		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	334								p.H334Y(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				CTTTAATAATGATAAGGAGTT	0.448000													5	40					0	0	0.001168	0	0
ACSM2A	123876	broad.mit.edu	37	16	20494421	20494421	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:20494421C>T	ENST00000573854.1	+	13	1665	c.1551C>T	c.(1549-1551)tcC>tcT	p.S517S	ACSM2A_ENST00000417235.2_Silent_p.S438S|ACSM2A_ENST00000396104.2_Silent_p.S517S|ACSM2A_ENST00000219054.6_Silent_p.S517S|ACSM2A_ENST00000536134.1_Silent_p.S289S|ACSM2A_ENST00000575690.1_Silent_p.S517S	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	517					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGTTCCTGTCCCATGACCCAG	0.517000													4	55					0	0	0.000602	0	0
ENPP7	339221	broad.mit.edu	37	17	77711814	77711814	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:77711814G>A	ENST00000328313.5	+	5	1567	c.1346G>A	c.(1345-1347)gGg>gAg	p.G449E		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	449					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGACTGCTGGGGACCGTGATT	0.632000													6	32					0	0	0.001984	0	0
L1TD1	54596	broad.mit.edu	37	1	62672661	62672661	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:62672661G>A	ENST00000498273.1	+	3	656	c.361G>A	c.(361-363)Gga>Aga	p.G121R		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	121										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						gaaaatagaaggagaaaactc	0.323000													6	92					0	0	0.001984	0	0
OR10A2	341276	broad.mit.edu	37	11	6891596	6891596	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:6891596C>T	ENST00000307322.4	+	1	673	c.611C>T	c.(610-612)tCc>tTc	p.S204F		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATCTTGTGTTCCTATACTCAC	0.488000													7	113					0	0	0.004482	0	0
LRIT3	345193	broad.mit.edu	37	4	110788890	110788890	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:110788890C>T	ENST00000327908.3	+	3	898	c.134C>T	c.(133-135)cCa>cTa	p.P45L	LRIT3_ENST00000594814.1_Missense_Mutation_p.P228L|LRIT3_ENST00000409621.2_Missense_Mutation_p.P45L|LRIT3_ENST00000379920.3_Missense_Mutation_p.P183L			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	183						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CTTCTGGATCCACTGATGACT	0.463000													4	32					0	0	0.000248	0	0
MMP3	4314	broad.mit.edu	37	11	102709325	102709325	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:102709325C>T	ENST00000299855.5	-	8	1442	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	396	Hemopexin-like 3.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	TTGTTCTTTTCCTTATCAGAA	0.413000													5	31					0	0	0.001168	0	0
CTCFL	140690	broad.mit.edu	37	20	56083667	56083667	+	Missense_Mutation	SNP	G	G	C	rs61754540		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:56083667G>C	ENST00000429804.2	-	8	2079	c.1519C>G	c.(1519-1521)Cgc>Ggc	p.R507G	CTCFL_ENST00000371196.2_Missense_Mutation_p.R557G|CTCFL_ENST00000422869.2_Missense_Mutation_p.R557G|CTCFL_ENST00000539382.1_Missense_Mutation_p.R352G|CTCFL_ENST00000243914.3_Missense_Mutation_p.R557G|CTCFL_ENST00000432255.2_Missense_Mutation_p.R413G|CTCFL_ENST00000433949.2_Missense_Mutation_p.R557G|CTCFL_ENST00000423479.2_Missense_Mutation_p.R557G|CTCFL_ENST00000422109.2_Missense_Mutation_p.P425R|CTCFL_ENST00000502686.2_Missense_Mutation_p.R295G|CTCFL_ENST00000426658.2_3'UTR	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	557					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.R557S(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CTTACCCAGCGGGAAAAGCCT	0.458000													4	69					0	0	0.000248	0	0
IDO1	3620	broad.mit.edu	37	8	39780096	39780096	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:39780096C>T	ENST00000518237.1	+	6	1102	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C	RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.R155C	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	155					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	p.R155C(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	GTTCTCATTTCGTGATGGAGA	0.368000													7	40					0	0	0.000443	0	0
NID2	22795	broad.mit.edu	37	14	52520773	52520773	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:52520773G>A	ENST00000216286.5	-	4	1033	c.1034C>T	c.(1033-1035)tCc>tTc	p.S345F	NID2_ENST00000541773.1_Missense_Mutation_p.S292F	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	345						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGATTGGAAGGAAACATCAAT	0.478000													4	55					0	0	0.000602	0	0
IGHV3-13	28449	broad.mit.edu	37	14	106586575	106586575	+	RNA	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:106586575G>A	ENST00000390602.2	-	0	92																											ACCCAGCTCAGCCCCAACTCC	0.488000													5	53					0	0	0.001984	0	0
DMP1	1758	broad.mit.edu	37	4	88584110	88584110	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:88584110C>T	ENST00000339673.6	+	6	1279	c.1180C>T	c.(1180-1182)Cac>Tac	p.H394Y	RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.H378Y	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	394					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		CACACTCTCCCACTCAAAAAG	0.542000													4	53					0	0	0.001168	0	0
ACTL6B	51412	broad.mit.edu	37	7	100244237	100244237	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:100244237C>T	ENST00000160382.5	-	12	1156	c.1050G>A	c.(1048-1050)ggG>ggA	p.G350G		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	350					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCAGTGTGTTCCCGCCGGTGA	0.657000													4	27					0	0	0.000602	0	0
OTUD7A	161725	broad.mit.edu	37	15	31822961	31822961	+	Missense_Mutation	SNP	G	G	A	rs146170863		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:31822961G>A	ENST00000382902.1	-	4	693	c.601C>T	c.(601-603)Cct>Tct	p.P201S	OTUD7A_ENST00000307050.4_Missense_Mutation_p.P201S			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	201	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	p.P201S(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GTGGCCAGAGGAAGAAGCCGT	0.557000													5	38					0	0	0.003080	0	0
CCNB3	85417	broad.mit.edu	37	X	50054018	50054018	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:50054018C>T	ENST00000376042.1	+	6	3147	c.2849C>T	c.(2848-2850)gCc>gTc	p.A950V	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.A950V			Q8WWL7	CCNB3_HUMAN	cyclin B3	950					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GAGCCATTAGCCTTACAAGAG	0.478000													5	41					0	0	0.000602	0	0
ENKUR	219670	broad.mit.edu	37	10	25279481	25279481	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:25279481G>T	ENST00000331161.4	-	4	724	c.505C>A	c.(505-507)Caa>Aaa	p.Q169K	ENKUR_ENST00000376363.1_Missense_Mutation_p.Q169K	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein	169						cilium|flagellum	calmodulin binding|SH3 domain binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TAGTCTTCTTGGGCTTTCTTT	0.373000													5	53					0.00116845	0.00238229	0.001168	1	0
DDHD1	80821	broad.mit.edu	37	14	53529882	53529882	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:53529882G>A	ENST00000357758.3	-	7	1728	c.1545C>T	c.(1543-1545)tcC>tcT	p.S515S	DDHD1_ENST00000395606.1_Silent_p.S522S|DDHD1_ENST00000323669.5_Silent_p.S515S	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	515					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					AACAGAAAAGGGAATACAATC	0.353000													5	50					0	0	0.001168	0	0
HCFC1	3054	broad.mit.edu	37	X	153225813	153225813	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:153225813G>A	ENST00000310441.7	-	7	1923	c.957C>T	c.(955-957)ccC>ccT	p.P319P	HCFC1_ENST00000354233.3_Silent_p.P319P|HCFC1_ENST00000461098.1_5'UTR|HCFC1_ENST00000369984.4_Silent_p.P319P	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	319					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.P220P(1)|p.P319P(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCGAGCACGGGGGATGTTGT	0.612000													3	9					0	0	0.000602	0	0
PDHA1	5160	broad.mit.edu	37	X	19368088	19368088	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:19368088C>T	ENST00000379806.5	+	4	410	c.265C>T	c.(265-267)Cct>Tct	p.P89S	PDHA1_ENST00000379805.3_Missense_Mutation_p.P51S|PDHA1_ENST00000422285.2_Missense_Mutation_p.P51S|PDHA1_ENST00000540249.1_Missense_Mutation_p.P51S|PDHA1_ENST00000545074.1_Missense_Mutation_p.P51S	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	51					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	AGAAGGCCCTCCTGTCACAAC	0.458000													4	39					0	0	0.000602	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077369	57077369	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:57077369G>A	ENST00000532437.1	-	5	3127	c.2816C>T	c.(2815-2817)aCc>aTc	p.T939I	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.T939I|TNKS1BP1_ENST00000530920.1_5'UTR			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	939	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GCTGCCATAGGTGCCGAGTGA	0.592000													9	66					0	0	0.000673	0	0
HHEX	3087	broad.mit.edu	37	10	94450089	94450089	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:94450089C>T	ENST00000282728.5	+	1	2145	c.346C>T	c.(346-348)Cgc>Tgc	p.R116C		NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	116	Pro-rich.				anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						CGCCCTGCTCCGCCACGACCC	0.776000													6	72					0	0	0.001984	0	0
SLIT3	6586	broad.mit.edu	37	5	168201324	168201324	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:168201324T>C	ENST00000519560.1	-	13	1630	c.1211A>G	c.(1210-1212)aAc>aGc	p.N404S	SLIT3_ENST00000404867.3_Missense_Mutation_p.N404S|SLIT3_ENST00000332966.8_Missense_Mutation_p.N404S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	404					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAAGTTGAGGTTCTGCAGGTC	0.532000													10	107					0	0	0.000673	0	0
IFNA6	3443	broad.mit.edu	37	9	21350664	21350664	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:21350664C>G	ENST00000380210.1	-	1	713	c.223G>C	c.(223-225)Gaa>Caa	p.E75Q		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	75					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GAGATGGCTTCAGCCTTCTGG	0.483000													7	36					0	0	0.003080	0	0
GPC5	2262	broad.mit.edu	37	13	92345629	92345629	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr13:92345629C>T	ENST00000377067.3	+	3	886	c.514C>T	c.(514-516)Cct>Tct	p.P172S		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	172						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.P172S(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CAGTCTTTTTCCTCTGGTCTA	0.458000													5	43					0	0	0.000602	0	0
DIRAS2	54769	broad.mit.edu	37	9	93376091	93376091	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:93376091C>T	ENST00000375765.3	-	2	407	c.19G>A	c.(19-21)Gat>Aat	p.D7N		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	7					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						ACCCGGTAATCGTTACTCTGC	0.507000													9	52					0	0	0.000978	0	0
ZNF334	55713	broad.mit.edu	37	20	45132877	45132877	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:45132877C>T	ENST00000457685.2	-	5	1426	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	ZNF334_ENST00000347606.4_Missense_Mutation_p.E73K|ZNF334_ENST00000593880.1_Missense_Mutation_p.E96K			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	73	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TTTGAGAATTCCTCCACTATC	0.418000													6	27					0	0	0.003080	0	0
A2ML1	144568	broad.mit.edu	37	12	9000241	9000241	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:9000241G>A	ENST00000299698.7	+	15	1960	c.1780G>A	c.(1780-1782)Gtg>Atg	p.V594M	A2ML1_ENST00000540049.1_3'UTR|A2ML1_ENST00000539547.1_Missense_Mutation_p.V103M	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	438						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GCTCCGGGCGGTGGATGAGAG	0.602000													8	69					0	0	0.000673	0	0
KL	9365	broad.mit.edu	37	13	33635435	33635435	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr13:33635435C>A	ENST00000380099.3	+	4	2227	c.2219C>A	c.(2218-2220)cCt>cAt	p.P740H	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	740	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCTGCCTGCCCTTTCTCCCAA	0.488000													6	50					0.00198382	0.00402824	0.001984	1	0
RNF122	79845	broad.mit.edu	37	8	33406331	33406331	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:33406331G>A	ENST00000256257.1	-	6	809	c.408C>T	c.(406-408)ccC>ccT	p.P136P		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	136						endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		GACTAGCAATGGGCTTGTTAC	0.527000													9	80					0	0	0.000443	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857061	9857061	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:9857061G>A	ENST00000396573.2	-	14	4649	c.4340C>T	c.(4339-4341)tCc>tTc	p.S1447F	GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1447F|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1447F|GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000404927.2_3'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1447					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATTGCTGCAGGAATTTAAAAC	0.378000													4	20					0	0	0.000602	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122334721	122334721	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:122334721A>G	ENST00000398250.1	+	6	876	c.524A>G	c.(523-525)aAg>aGg	p.K175R	PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.K175R|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.K165R|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.K112R|PPAPDC1A_ENST00000496437.1_3'UTR	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	175					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GGGCGGGGAAAGAGCTGGCGG	0.587000													7	42					0	0	0.001984	0	0
DPP3	10072	broad.mit.edu	37	11	66260376	66260376	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:66260376C>T	ENST00000532677.1	+	10	1636	c.1235C>T	c.(1234-1236)cCc>cTc	p.P412L	DPP3_ENST00000531863.1_Missense_Mutation_p.P413L|DPP3_ENST00000530165.1_Missense_Mutation_p.P363L|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000360510.2_Missense_Mutation_p.P393L|DPP3_ENST00000453114.1_Missense_Mutation_p.P393L|DPP3_ENST00000541961.1_Missense_Mutation_p.P393L	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	393					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						ATCAACATCCCCAACTGTGAG	0.597000													5	39					0	0	0.000602	0	0
CES4A	283848	broad.mit.edu	37	16	67029622	67029622	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:67029622C>T	ENST00000540947.2	+	2	334	c.150C>T	c.(148-150)gtC>gtT	p.V50V	CES4A_ENST00000541479.1_Silent_p.V73V|CES4A_ENST00000398354.1_Silent_p.V50V|CES4A_ENST00000326686.5_Silent_p.V50V|CES4A_ENST00000338718.4_Silent_p.V73V	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN	carboxylesterase 4A	50						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						CCATCCAAGTCTTTTTAGGAG	0.532000													5	41					0	0	0.000602	0	0
MUC16	94025	broad.mit.edu	37	19	9046048	9046048	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:9046048C>T	ENST00000397910.4	-	5	35786	c.35583G>A	c.(35581-35583)atG>atA	p.M11861I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11863	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGTTGGAATCATTGTGCTGG	0.493000													7	54					0	0	0.001984	0	0
VSTM2L	128434	broad.mit.edu	37	20	36560081	36560081	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:36560081G>A	ENST00000373461.4	+	2	413	c.166G>A	c.(166-168)Gag>Aag	p.E56K	VSTM2L_ENST00000373458.3_Missense_Mutation_p.E56K|VSTM2L_ENST00000373459.4_Intron	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	56	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				ACGGACGGGCGAGGACGTGGA	0.637000													7	60					0	0	0.000443	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13001268	13001268	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:13001268G>A	ENST00000376189.1	-	3	514	c.415C>T	c.(415-417)Cca>Tca	p.P139S	PRAMEF6_ENST00000415464.2_Missense_Mutation_p.P139S|PRAMEF6_ENST00000376192.5_Intron	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	139										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCATCCTTGGACAGTCCTGC	0.507000													11	320					0	0	0.000978	0	0
DHX57	90957	broad.mit.edu	37	2	39074213	39074213	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:39074213G>A	ENST00000295373.6	-	11	2293	c.2167C>T	c.(2167-2169)Cgt>Tgt	p.R723C		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	723							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GGAAATGTACGACCTAGAAAA	0.348000													6	26					0	0	0.001168	0	0
PLP2	5355	broad.mit.edu	37	X	49029805	49029805	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:49029805G>A	ENST00000376327.5	+	3	395	c.320G>A	c.(319-321)gGa>gAa	p.G107E	PLP2_ENST00000376322.3_Missense_Mutation_p.G107E	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	107	MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity			endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						GTTGAGAGAGGAAACCACTCC	0.527000													4	27					0	0	0.000602	0	0
DOCK9	23348	broad.mit.edu	37	13	99519729	99519729	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr13:99519729G>A	ENST00000376460.1	-	30	3316	c.3236C>T	c.(3235-3237)cCg>cTg	p.P1079L	DOCK9_ENST00000339416.2_Missense_Mutation_p.P1080L|DOCK9_ENST00000448493.2_Missense_Mutation_p.P1091L|DOCK9_ENST00000442173.1_Missense_Mutation_p.P1079L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1080					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TAAGTTCAACGGAATATAATG	0.363000													6	136					0	0	0.004482	0	0
ATP7B	540	broad.mit.edu	37	13	52544669	52544669	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr13:52544669G>A	ENST00000242839.4	-	3	1658	c.1502C>T	c.(1501-1503)tCc>tTc	p.S501F	ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000542656.1_Missense_Mutation_p.S469F|ATP7B_ENST00000400366.3_Missense_Mutation_p.S390F|ATP7B_ENST00000418097.2_Missense_Mutation_p.S501F|ATP7B_ENST00000344297.5_Missense_Mutation_p.S501F|ATP7B_ENST00000448424.2_Missense_Mutation_p.S501F|ATP7B_ENST00000400370.3_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	501	HMA 5.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		AGACACACAGGATGCACAGGT	0.488000									Wilson disease				8	94					0	0	0.004482	0	0
NSUN2	54888	broad.mit.edu	37	5	6618103	6618103	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:6618103A>C	ENST00000264670.6	-	8	1161	c.850T>G	c.(850-852)Tgg>Ggg	p.W284G	NSUN2_ENST00000506139.1_Missense_Mutation_p.W249G|NSUN2_ENST00000539938.1_Missense_Mutation_p.W48G	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	284						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CACTTTTTCCAAACATCAATG	0.393000													5	62					0	0	0.001984	0	0
IFT172	26160	broad.mit.edu	37	2	27699526	27699526	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:27699526T>A	ENST00000260570.3	-	14	1496	c.1393A>T	c.(1393-1395)Att>Ttt	p.I465F	IFT172_ENST00000359466.6_Missense_Mutation_p.I465F|IFT172_ENST00000416524.2_Missense_Mutation_p.I444F	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	465					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ATAGTCTTAATATCAATAAGA	0.353000													4	54					0	0	0.000248	0	0
CEP350	9857	broad.mit.edu	37	1	179989416	179989416	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:179989416C>T	ENST00000367607.3	+	12	2925	c.2507C>T	c.(2506-2508)tCc>tTc	p.S836F		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	836						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GCTTCTTTGTCCAGCAGAATT	0.448000													12	129					0	0	0.000978	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298627	125298627	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:125298627G>A	ENST00000538699.1	-	2	1361	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	DCAF12L2_ENST00000360028.2_Silent_p.F427F	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	427										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCGCATTGGGGAACTCTCCCA	0.617000													9	65					0	0	0.000673	0	0
HOXB1	3211	broad.mit.edu	37	17	46607149	46607149	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:46607149G>A	ENST00000239174.6	-	2	758	c.666C>T	c.(664-666)ttC>ttT	p.F222F	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	222						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGTTGAAATGGAACTCCTTTT	0.592000													8	79					0	0	0.003080	0	0
IQUB	154865	broad.mit.edu	37	7	123092907	123092907	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:123092907G>A	ENST00000466202.1	-	13	2842	c.2266C>T	c.(2266-2268)Cca>Tca	p.P756S	IQUB_ENST00000324698.6_Missense_Mutation_p.P756S			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	756										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GCCAGCACTGGAACCTGAGAA	0.368000													4	21					0	0	0.000602	0	0
UGT2A2	574537	broad.mit.edu	37	4	70505165	70505165	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:70505165G>A	ENST00000457664.2	-	1	193	c.194C>T	c.(193-195)tCa>tTa	p.S65L	UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000514019.1_Missense_Mutation_p.S266L	NM_001105677.2	NP_001099147.2																					TAGAGTTGCTGATGAAGCCAG	0.358000													7	53					0	0	0.004482	0	0
TUBB8	347688	broad.mit.edu	37	10	93360	93360	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:93360C>T	ENST00000447903.2	-	4	1071	c.756G>A	c.(754-756)agG>agA	p.R252R	TUBB8_ENST00000309812.4_Silent_p.R324R			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	324					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CATCCACCTCCCTCATGGGCA	0.517000													7	68					0	0	0.001984	0	0
PTPRC	5788	broad.mit.edu	37	1	198665998	198665998	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:198665998C>T	ENST00000367376.2	+	4	423	c.252C>T	c.(250-252)tcC>tcT	p.S84S	PTPRC_ENST00000391970.3_Intron|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000442510.2_Silent_p.S86S|PTPRC_ENST00000352140.3_Silent_p.S84S|PTPRC_ENST00000594404.1_Intron	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	84					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CCCAAGTATCCCCGGACTCTT	0.408000													8	64					0	0	0.000443	0	0
ZNF536	9745	broad.mit.edu	37	19	30935406	30935406	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:30935406G>A	ENST00000355537.3	+	2	1084	c.937G>A	c.(937-939)Gag>Aag	p.E313K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TTCGCAGGAGGAGGAGCTCAT	0.647000													7	66					0	0	0.003080	0	0
KIF2B	84643	broad.mit.edu	37	17	51901157	51901157	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:51901157C>T	ENST00000268919.4	+	1	919	c.763C>T	c.(763-765)Ctc>Ttc	p.L255F		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	255	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAAGGTGGACCTCACTCGCTA	0.542000													4	31					0	0	0.000602	0	0
C1orf94	84970	broad.mit.edu	37	1	34667757	34667757	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:34667757C>T	ENST00000488417.1	+	4	1463	c.1343C>T	c.(1342-1344)cCt>cTt	p.P448L	C1orf94_ENST00000373374.3_Missense_Mutation_p.P258L	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	258							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CCACACTTTCCTACAGCCATG	0.512000													4	24					0	0	0.000248	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994835	140994835	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:140994835C>T	ENST00000285879.4	+	4	1931	c.1645C>T	c.(1645-1647)Cct>Tct	p.P549S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	549							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCACTACTTTCCTCAGAGCCC	0.552000										HNSCC(15;0.026)			9	123					0	0	0.000443	0	0
ZNF761	388561	broad.mit.edu	37	19	53945837	53945837	+	RNA	SNP	T	T	C	rs17855120	by1000genomes	TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:53945837T>C	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GGACCAGACTTTGCTTGACCT	0.512000													7	15					0	0	0.001984	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64594561	64594561	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:64594561G>A	ENST00000342711.5	-	34	4349	c.4350C>T	c.(4348-4350)ggC>ggT	p.G1450G		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1450	CRIB.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CGTTGGCAGGGCCCACGTGTA	0.607000													5	59					0	0	0.000602	0	0
ELAVL2	1993	broad.mit.edu	37	9	23704929	23704929	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:23704929G>A	ENST00000397312.2	-	4	748	c.474C>T	c.(472-474)gtC>gtT	p.V158V	ELAVL2_ENST00000544538.1_Silent_p.V158V|ELAVL2_ENST00000380110.4_Silent_p.V187V|ELAVL2_ENST00000223951.6_Silent_p.V158V|ELAVL2_ENST00000380117.1_Silent_p.V158V	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	158	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TGACCTGGTCGACAAGAATAC	0.428000													9	60					0	0	0.004482	0	0
BCORL1	63035	broad.mit.edu	37	X	129149216	129149216	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:129149216C>T	ENST00000540052.1	+	3	2512	c.2468C>T	c.(2467-2469)cCt>cTt	p.P823L	BCORL1_ENST00000359304.2_Missense_Mutation_p.P823L|BCORL1_ENST00000303743.5_Missense_Mutation_p.P823L|BCORL1_ENST00000218147.7_Missense_Mutation_p.P823L	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	823					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AATGGGAAACCTACCAGCACC	0.592000													4	50					0	0	0.000248	0	0
TMC5	79838	broad.mit.edu	37	16	19477414	19477414	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:19477414G>A	ENST00000396229.2	+	9	2245	c.1496G>A	c.(1495-1497)aGg>aAg	p.R499K	TMC5_ENST00000542583.2_Missense_Mutation_p.R499K|TMC5_ENST00000381414.4_Missense_Mutation_p.R499K|TMC5_ENST00000541464.1_Missense_Mutation_p.R499K|TMC5_ENST00000561503.1_Missense_Mutation_p.R140K|TMC5_ENST00000564959.1_Missense_Mutation_p.R182K|TMC5_ENST00000219821.5_Missense_Mutation_p.R253K	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	499						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGTTATTTTAGGGACACAGTG	0.448000													5	17					0	0	0.000602	0	0
MST1R	4486	broad.mit.edu	37	3	49933689	49933689	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:49933689G>A	ENST00000296474.3	-	10	2615	c.2588C>T	c.(2587-2589)cCc>cTc	p.P863L	MST1R_ENST00000344206.4_Missense_Mutation_p.P863L	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	863					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GGGTGGATGGGGTGGGGGTAG	0.587000													10	52					0	0	0.001855	0	0
CLCN1	1180	broad.mit.edu	37	7	143027910	143027910	+	Missense_Mutation	SNP	G	G	A	rs118066140	byFrequency	TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:143027910G>A	ENST00000343257.2	+	8	986	c.899G>A	c.(898-900)cGg>cAg	p.R300Q	CLCN1_ENST00000495612.1_3'UTR	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	300			R -> Q.		muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TTTGCTGTTCGGAACTACTGG	0.557000													6	35					0	0	0.003080	0	0
CXorf57	55086	broad.mit.edu	37	X	105912433	105912433	+	Silent	SNP	C	C	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:105912433C>G	ENST00000372548.4	+	13	2419	c.2310C>G	c.(2308-2310)ccC>ccG	p.P770P	CXorf57_ENST00000372544.2_Silent_p.P673P|CXorf57_ENST00000497124.1_3'UTR	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	770										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						CTTTCCTACCCATGTATTGTC	0.413000													10	154					0	0	0.000673	0	0
DNAH11	8701	broad.mit.edu	37	7	21727062	21727062	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:21727062C>T	ENST00000328843.6	+	35	5893	c.5862C>T	c.(5860-5862)ttC>ttT	p.F1954F	DNAH11_ENST00000409508.3_Silent_p.F1947F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1954	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTGATGAGTTCAACCGAATCT	0.448000									Kartagener syndrome				6	17					0	0	0.001168	0	0
LYPD4	147719	broad.mit.edu	37	19	42342269	42342269	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:42342269G>A	ENST00000330743.3	-	4	1489	c.278C>T	c.(277-279)tCc>tTc	p.S93F	LYPD4_ENST00000601246.1_Missense_Mutation_p.S58F|LYPD4_ENST00000343055.4_Missense_Mutation_p.S58F	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	93						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						AACAAGGTAGGAGATTTGCGC	0.532000													5	42					0	0	0.000602	0	0
DNTT	1791	broad.mit.edu	37	10	98078267	98078267	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:98078267G>A	ENST00000419175.1	+	2	532	c.362G>A	c.(361-363)gGa>gAa	p.G121E	DNTT_ENST00000371174.2_Missense_Mutation_p.G121E	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	121	BRCT.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GAAATGACAGGAAAACACCAG	0.468000													4	20					0	0	0.000602	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995819	140995819	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:140995819G>A	ENST00000285879.4	+	4	2915	c.2629G>A	c.(2629-2631)Gaa>Aaa	p.E877K	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	877							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGTAGATGAATATACAAG	0.493000										HNSCC(15;0.026)			14	92					0	0	0.003163	0	0
KRTDAP	388533	broad.mit.edu	37	19	35978355	35978355	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:35978355C>T	ENST00000338897.3	-	6	363	c.275G>A	c.(274-276)aGg>aAg	p.R92K	KRTDAP_ENST00000484218.2_Missense_Mutation_p.R78K|KRTDAP_ENST00000479340.1_5'UTR	NM_207392.2	NP_997275.1	P60985	KTDAP_HUMAN	keratinocyte differentiation-associated protein	92					cell differentiation	extracellular region				breast(1)|lung(4)|prostate(1)	6	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AGTTGCGCTCCTCAGTCCTTT	0.562000													4	44					0	0	0.000602	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325545	150325545	+	Silent	SNP	C	C	T	rs138777121		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:150325545C>T	ENST00000328902.5	-	3	357	c.141G>A	c.(139-141)ggG>ggA	p.G47G	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	47							GTP binding	p.G47G(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCCTGTTTTCCCCATGAGAA	0.527000													15	139					0	0	0.001216	0	0
COL17A1	1308	broad.mit.edu	37	10	105815129	105815129	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:105815129C>T	ENST00000353479.5	-	19	2008		c.e19+1		COL17A1_ENST00000369733.3_Splice_Site|COL17A1_ENST00000480127.1_5'UTR	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1						cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CATGGCAATACCTTTAGGGCC	0.448000													7	55					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179641103	179641103	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179641103C>T	ENST00000589042.1	-	28	5712	c.5488G>A	c.(5488-5490)Ggt>Agt	p.G1830S	TTN_ENST00000360870.5_Missense_Mutation_p.G1830S|TTN_ENST00000591111.1_Missense_Mutation_p.G1830S|TTN_ENST00000342992.6_Missense_Mutation_p.G1830S|TTN_ENST00000342175.6_Missense_Mutation_p.G1784S|TTN_ENST00000460472.2_Missense_Mutation_p.G1784S|TTN_ENST00000359218.5_Missense_Mutation_p.G1784S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1553							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTGTTACACCTGTAAGTGCA	0.453000													5	42					0	0	0.000602	0	0
LAMP5	24141	broad.mit.edu	37	20	9496169	9496169	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:9496169A>T	ENST00000246070.2	+	2	626	c.134A>T	c.(133-135)aAa>aTa	p.K45I	LAMP5_ENST00000427562.2_Missense_Mutation_p.K45I	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	45						integral to membrane											AACCCTGAAAAAGATATATTT	0.428000													6	43					0	0	0.001168	0	0
MLF2	8079	broad.mit.edu	37	12	6859102	6859102	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:6859102G>A	ENST00000203630.5	-	7	1115	c.471C>T	c.(469-471)atC>atT	p.I157I	MLF2_ENST00000539187.1_Silent_p.I157I|MLF2_ENST00000435120.1_Silent_p.I157I|MLF2_ENST00000542154.1_Silent_p.I157I			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	157					defense response	cytoplasm|nucleus	protein binding			kidney(2)|large_intestine(3)|lung(4)	9						CCCTGTCCCGGATGTGATGCC	0.597000													8	28					0	0	0.004482	0	0
ACRBP	84519	broad.mit.edu	37	12	6752786	6752786	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:6752786G>A	ENST00000229243.2	-	6	1089	c.996C>T	c.(994-996)atC>atT	p.I332I	ACRBP_ENST00000542357.1_5'UTR|ACRBP_ENST00000414226.2_Silent_p.I299I	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	332						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						TATTCTCCACGATCGAATAGC	0.597000													8	56					0	0	0.004482	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62648405	62648405	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:62648405G>A	ENST00000337910.5	-	6	1358	c.1021C>T	c.(1021-1023)Cct>Tct	p.P341S	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.P341S	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	341	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					TCGGCCTGAGGAATCCTAGGC	0.572000													5	29					0	0	0.000602	0	0
PDE1C	5137	broad.mit.edu	37	7	31877507	31877507	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:31877507C>T	ENST00000396184.3	-	11	1263	c.1059G>A	c.(1057-1059)aaG>aaA	p.K353K	PDE1C_ENST00000321453.7_Silent_p.K353K|PDE1C_ENST00000396193.1_Silent_p.K413K|PDE1C_ENST00000396182.2_Silent_p.K353K|PDE1C_ENST00000396191.1_Silent_p.K353K	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	353	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GCAGAGCAGTCTTCATTGCTT	0.433000													10	121					0	0	0.001368	0	0
ARID1B	57492	broad.mit.edu	37	6	157511258	157511258	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:157511258C>T	ENST00000346085.5	+	15	3777	c.3776C>T	c.(3775-3777)cCc>cTc	p.P1259L	ARID1B_ENST00000275248.4_Missense_Mutation_p.P1241L|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1299L|ARID1B_ENST00000350026.5_Missense_Mutation_p.P1246L	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1246					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCAAACGCCCCCTACCAGCAG	0.537000													7	52					0	0	0.001984	0	0
SETDB2	83852	broad.mit.edu	37	13	50062649	50062649	+	Silent	SNP	T	T	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr13:50062649T>C	ENST00000354234.4	+	12	2706	c.1800T>C	c.(1798-1800)gaT>gaC	p.D600D	SETDB2_ENST00000317257.8_Silent_p.D612D	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	612	SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		TATTTTGTGATGAAGAGTTGC	0.358000													4	41					0	0	0.000248	0	0
IL21	59067	broad.mit.edu	37	4	123542164	123542164	+	Translation_Start_Site	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:123542164C>T	ENST00000264497.3	-	1	60	c.3G>A	c.(1-3)atG>atA	p.M1I	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	0					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						GACTGGATCTCATAAGTACCA	0.468000													6	38					0	0	0.001168	0	0
WFDC9	259240	broad.mit.edu	37	20	44236765	44236765	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:44236765G>A	ENST00000326000.1	-	5	471	c.254C>T	c.(253-255)tCa>tTa	p.S85L		NM_147198.3	NP_671731.1	Q8NEX5	WFDC9_HUMAN	WAP four-disulfide core domain 9	85						extracellular region				breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				GTTTAGCATTGATTTAAGGGG	0.428000													10	99					0	0	0.001368	0	0
HTT	3064	broad.mit.edu	37	4	3184177	3184177	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:3184177C>T	ENST00000355072.5	+	37	4991	c.4846C>T	c.(4846-4848)Cca>Tca	p.P1616S		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1616					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CATCATCCTCCCAATGTTAGC	0.493000													4	53					0	0	0.000248	0	0
SCRN1	9805	broad.mit.edu	37	7	29963630	29963630	+	Silent	SNP	C	C	T	rs140280542		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:29963630C>T	ENST00000426154.1	-	8	1364	c.1188G>A	c.(1186-1188)gcG>gcA	p.A396A	SCRN1_ENST00000416113.2_Silent_p.A222A|SCRN1_ENST00000409497.1_Silent_p.A396A|SCRN1_ENST00000242059.5_Silent_p.A396A	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	396					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CCCCCACTTCCGCAGGGTCCA	0.517000													5	63					0	0	0.000602	0	0
SLC35F1	222553	broad.mit.edu	37	6	118556686	118556686	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:118556686C>T	ENST00000360388.4	+	3	565	c.364C>T	c.(364-366)Ctg>Ttg	p.L122L		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	122					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		AGAAAACCTCCTGGCAATTTT	0.368000													5	43					0	0	0.001168	0	0
DMBT1	1755	broad.mit.edu	37	10	124339122	124339122	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:124339122G>A	ENST00000338354.3	+	10	814	c.708G>A	c.(706-708)ctG>ctA	p.L236L	DMBT1_ENST00000368955.3_Silent_p.L236L|DMBT1_ENST00000368909.3_Silent_p.L236L|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Silent_p.L236L|DMBT1_ENST00000368956.2_Silent_p.L236L|DMBT1_ENST00000344338.3_Silent_p.L236L			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	236	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCCTGAGGCTGGTGAATGGAG	0.537000													14	145					0	0	0.004007	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209354	140209354	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:140209354G>A	ENST00000529310.1	+	1	1792	c.1678G>A	c.(1678-1680)Gac>Aac	p.D560N	PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGAGAACGACAACGCGCC	0.687000													9	49					0	0	0.004482	0	0
GPR139	124274	broad.mit.edu	37	16	20043949	20043949	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:20043949C>T	ENST00000570682.1	-	2	470	c.170G>A	c.(169-171)aGa>aAa	p.R57K		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	57						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CTTCTGTCTTCTTGCCACCAG	0.463000													5	38					0	0	0.001168	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883422	228883422	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:228883422C>T	ENST00000392056.3	-	7	2194	c.2148G>A	c.(2146-2148)gtG>gtA	p.V716V	SPHKAP_ENST00000344657.5_Silent_p.V716V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	716						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGAAGCATATCACATCTAAAA	0.408000													6	89					0	0	0.001984	0	0
C18orf54	162681	broad.mit.edu	37	18	51889214	51889214	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr18:51889214C>T	ENST00000300091.5	+	4	995	c.663C>T	c.(661-663)tcC>tcT	p.S221S	C18orf54_ENST00000382911.4_Silent_p.S382S|C18orf54_ENST00000578138.1_5'UTR	NM_173529.4	NP_775800.3	Q8IYD9	CR054_HUMAN	chromosome 18 open reading frame 54	221						extracellular region				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		TACCAAAGTCCATGAAAAAGG	0.348000													4	27					0	0	0.000248	0	0
ALB	213	broad.mit.edu	37	4	74283258	74283258	+	Missense_Mutation	SNP	C	C	T	rs78575701		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:74283258C>T	ENST00000295897.4	+	11	1389	c.1300C>T	c.(1300-1302)Cgt>Tgt	p.R434C	ALB_ENST00000505649.1_Intron|ALB_ENST00000503124.1_Missense_Mutation_p.R284C|ALB_ENST00000401494.3_Missense_Mutation_p.R319C|ALB_ENST00000415165.2_Missense_Mutation_p.R242C|ALB_ENST00000509063.1_Missense_Mutation_p.R434C	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	434	Albumin 3.		R -> C (in Liprizzi).		bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GCTATTAGTTCGTTACACCAA	0.403000													5	23					0	0	0.000602	0	0
OTOGL	283310	broad.mit.edu	37	12	80733021	80733021	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:80733021C>T	ENST00000458043.2	+	42	5006	c.5000C>T	c.(4999-5001)tCa>tTa	p.S1667L	OTOGL_ENST00000547103.1_Missense_Mutation_p.S1655L	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTAACTTGTCATCCTACACA	0.363000													9	148					0	0	0.000978	0	0
APOB	338	broad.mit.edu	37	2	21230570	21230570	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:21230570T>A	ENST00000233242.1	-	26	9297	c.9170A>T	c.(9169-9171)aAa>aTa	p.K3057I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3057					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAAACGAACTTTCAAATTCCC	0.393000													14	167					0	0	0.001855	0	0
DNAH5	1767	broad.mit.edu	37	5	13736032	13736032	+	Missense_Mutation	SNP	C	C	T	rs140380565		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:13736032C>T	ENST00000265104.4	-	67	11569	c.11465G>A	c.(11464-11466)cGg>cAg	p.R3822Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3822					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R3822L(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GATGCTGCCCCGCGTAGCCAC	0.443000									Kartagener syndrome				6	42					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179444550	179444550	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179444550C>T	ENST00000589042.1	-	319	67598	c.67374G>A	c.(67372-67374)ctG>ctA	p.L22458L	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.L20817L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.L19890L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.L13585L|TTN_ENST00000460472.2_Silent_p.L13393L|TTN_ENST00000359218.5_Silent_p.L13518L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20817	Ig-like 116.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTCACTTTCAGGTCCACAA	0.408000													5	43					0	0	0.001168	0	0
APC	324	broad.mit.edu	37	5	112174857	112174857	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:112174857C>T	ENST00000457016.1	+	16	3946	c.3566C>T	c.(3565-3567)tCa>tTa	p.S1189L	APC_ENST00000508376.2_Missense_Mutation_p.S1189L|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.S1189L			P25054	APC_HUMAN	adenomatous polyposis coli	1189	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.S1189*(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GATATTCCTTCATCACAGAAA	0.353000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			7	51					0	0	0.001984	0	0
CLIP4	79745	broad.mit.edu	37	2	29344282	29344282	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:29344282C>T	ENST00000320081.5	+	2	283	c.28C>T	c.(28-30)Cca>Tca	p.P10S	CLIP4_ENST00000404424.1_Missense_Mutation_p.P10S|CLIP4_ENST00000401605.1_Missense_Mutation_p.P10S|CLIP4_ENST00000401617.2_Intron	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	10										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TCCAGATTTTCCATTAGAAGG	0.348000													7	65					0	0	0.001984	0	0
BTNL8	79908	broad.mit.edu	37	5	180377434	180377434	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:180377434G>A	ENST00000340184.4	+	8	1599	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K	BTNL8_ENST00000400707.3_Missense_Mutation_p.E340K|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000511704.1_Missense_Mutation_p.E349K|BTNL8_ENST00000505126.1_Missense_Mutation_p.E258K|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000533815.2_Missense_Mutation_p.E281K	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	465	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTCACCCAGGAATCAGAGAA	0.532000													5	76					0	0	0.000602	0	0
SYNE1	23345	broad.mit.edu	37	6	152737610	152737610	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:152737610C>T	ENST00000367255.5	-	41	6563	c.5962G>A	c.(5962-5964)Gag>Aag	p.E1988K	SYNE1_ENST00000448038.1_Missense_Mutation_p.E1995K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1988K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2025K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1995K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1988					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGAAGCTCCTCTTTCTGGTCT	0.473000										HNSCC(10;0.0054)			11	151					0	0	0.000673	0	0
DNAH8	1769	broad.mit.edu	37	6	38718261	38718261	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:38718261G>A	ENST00000359357.3	+	7	906	c.652G>A	c.(652-654)Gat>Aat	p.D218N	DNAH8_ENST00000441566.1_Missense_Mutation_p.D218N|DNAH8_ENST00000449981.2_Missense_Mutation_p.D435N					dynein, axonemal, heavy chain 8											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						GAATTGGCGTGATTTGGATGC	0.328000													5	29					0	0	0.001168	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603145	111603145	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:111603145C>T	ENST00000431670.2	+	2	632	c.221C>T	c.(220-222)cCt>cTt	p.P74L	PHLDB2_ENST00000478922.1_Missense_Mutation_p.P74L|PHLDB2_ENST00000393925.3_Missense_Mutation_p.P74L|PHLDB2_ENST00000481953.1_Missense_Mutation_p.P74L|PHLDB2_ENST00000477695.1_Missense_Mutation_p.P74L|PHLDB2_ENST00000393923.3_Missense_Mutation_p.P101L|PHLDB2_ENST00000412622.1_Missense_Mutation_p.P74L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	74						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGCCCTTCTCCTTTGGGAACC	0.443000													10	92					0	0	0.000443	0	0
MUC13	56667	broad.mit.edu	37	3	124646657	124646657	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:124646657G>A	ENST00000311075.3	-	2	271	c.233C>T	c.(232-234)tCc>tTc	p.S78F		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	78	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						AATTGTGGAGGAACTATGTGT	0.448000													7	109					0	0	0.003080	0	0
CSMD2	114784	broad.mit.edu	37	1	34049279	34049279	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:34049279G>A	ENST00000373381.4	-	47	7379	c.7203C>T	c.(7201-7203)ctC>ctT	p.L2401L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2403	CUB 14.					integral to membrane|plasma membrane	protein binding	p.L2403L(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCTTCTCGCTGAGGAAGTACT	0.507000													7	80					0	0	0.003080	0	0
DNAH5	1767	broad.mit.edu	37	5	13736031	13736031	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:13736031C>T	ENST00000265104.4	-	67	11570	c.11466G>A	c.(11464-11466)cgG>cgA	p.R3822R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3822					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGATGCTGCCCCGCGTAGCCA	0.448000									Kartagener syndrome				5	43					0	0	0.000602	0	0
UPF2	26019	broad.mit.edu	37	10	11971937	11971937	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:11971937G>A	ENST00000356352.2	-	20	4209	c.3736C>T	c.(3736-3738)Cgt>Tgt	p.R1246C	UPF2_ENST00000357604.5_Missense_Mutation_p.R1246C|UPF2_ENST00000397053.2_Missense_Mutation_p.R1246C			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1246	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CGCCTCTCACGATTGGTGTTT	0.463000													30	223					0	0	0.002836	0	0
CACNA2D1	781	broad.mit.edu	37	7	81667445	81667445	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:81667445C>T	ENST00000356860.3	-	11	1324	c.986G>A	c.(985-987)gGa>gAa	p.G329E	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.G329E	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	329	VWFA.					voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	atctgtaattcctttggctGT	0.353000													9	61					0	0	0.004482	0	0
GLE1	2733	broad.mit.edu	37	9	131284953	131284953	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:131284953C>T	ENST00000309971.4	+	4	545	c.439C>T	c.(439-441)Ctg>Ttg	p.L147L	GLE1_ENST00000539582.1_Intron|GLE1_ENST00000372770.4_Silent_p.L147L	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	147					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						TCAGGAGGGCCTGAGGCTATG	0.493000													6	22					0	0	0.001168	0	0
RAG1	5896	broad.mit.edu	37	11	36595249	36595249	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:36595249C>T	ENST00000299440.5	+	2	507	c.395C>T	c.(394-396)cCt>cTt	p.P132L		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	132	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GTCCATGGTCCTGTGGATGGT	0.498000									Familial Hemophagocytic Lymphohistiocytosis				5	47					0	0	0.000602	0	0
SDK1	221935	broad.mit.edu	37	7	4218208	4218208	+	Silent	SNP	C	C	T	rs145808805		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:4218208C>T	ENST00000404826.2	+	35	5227	c.5088C>T	c.(5086-5088)gtC>gtT	p.V1696V	SDK1_ENST00000389531.3_Silent_p.V1676V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1696					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGGTCTTTGTCGGCGAGGCTG	0.617000													10	39					0	0	0.000673	0	0
EMR1	2015	broad.mit.edu	37	19	6913740	6913740	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:6913740C>T	ENST00000312053.4	+	11	1236	c.1199C>T	c.(1198-1200)tCc>tTc	p.S400F	EMR1_ENST00000450315.3_Missense_Mutation_p.S223F|EMR1_ENST00000381407.5_Missense_Mutation_p.S259F|EMR1_ENST00000381404.4_Missense_Mutation_p.S348F|EMR1_ENST00000250572.8_Missense_Mutation_p.S400F	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	400	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GAGACGTCCTCCCTGGCCACA	0.463000													5	59					0	0	0.001168	0	0
GABRA3	2556	broad.mit.edu	37	X	151424282	151424282	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:151424282C>T	ENST00000370314.4	-	5	757	c.519G>A	c.(517-519)ttG>ttA	p.L173L	GABRA3_ENST00000535043.1_Silent_p.L173L|GABRA3_ENST00000370311.1_Silent_p.L173L	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	173					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|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CGTTGTCCACCAATCTGAGCA	0.488000													6	52					0	0	0.001168	0	0
ELF4	2000	broad.mit.edu	37	X	129203370	129203370	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:129203370C>T	ENST00000308167.5	-	8	1471	c.1092G>A	c.(1090-1092)ctG>ctA	p.L364L	ELF4_ENST00000335997.7_Silent_p.L364L	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	364					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GTCCCAATTCCAGACTCGCAG	0.582000			T	ERG	AML								13	86					0	0	0.001855	0	0
CDKL3	51265	broad.mit.edu	37	5	133634401	133634401	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:133634401C>T	ENST00000265334.4	-	13	1838	c.1719_splice	c.e13-1	p.G574_splice	CDKL3_ENST00000518409.1_Intron|CDKL3_ENST00000523054.1_3'UTR|CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000536186.1_Intron	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	574						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCATCTCCACCCTAAAATTAG	0.333000													7	76					0	0	0.003080	0	0
ACTL9	284382	broad.mit.edu	37	19	8808130	8808130	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:8808130G>A	ENST00000324436.3	-	1	1042	c.922C>T	c.(922-924)Ccg>Tcg	p.P308S		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	308						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GACAGCCCCGGGACCTCTGGG	0.637000													4	30					0	0	0.000248	0	0
MAMLD1	10046	broad.mit.edu	37	X	149639405	149639405	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:149639405G>A	ENST00000370401.2	+	4	1870	c.1560G>A	c.(1558-1560)atG>atA	p.M520I	MAMLD1_ENST00000262858.5_Missense_Mutation_p.M520I|MAMLD1_ENST00000455522.2_Start_Codon_SNP_p.M1I|MAMLD1_ENST00000426613.2_Missense_Mutation_p.M495I|MAMLD1_ENST00000432680.2_Missense_Mutation_p.M495I			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	520				M -> T (in Ref. 2; BAG37651).	male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGAGCATGATCATGCAGC	0.522000													5	45					0	0	0.000602	0	0
PCDH15	65217	broad.mit.edu	37	10	55582867	55582867	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:55582867G>A	ENST00000361849.3	-	34	5019	c.4625C>T	c.(4624-4626)tCa>tTa	p.S1542L	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1537L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1471L|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.S1540L|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1517L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1500L|PCDH15_ENST00000395438.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1540					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGAAATGTCTGAATTTGTTGA	0.388000										HNSCC(58;0.16)			5	44					0	0	0.001168	0	0
PCDH15	65217	broad.mit.edu	37	10	55996643	55996643	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:55996643G>A	ENST00000373965.2	-	9	1319	c.925C>T	c.(925-927)Cag>Tag	p.Q309*	PCDH15_ENST00000395440.1_Nonsense_Mutation_p.Q309*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.Q309*|PCDH15_ENST00000395446.1_Nonsense_Mutation_p.Q309*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.Q309*|PCDH15_ENST00000373957.3_Nonsense_Mutation_p.Q287*|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.Q309*|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.Q314*|PCDH15_ENST00000320301.6_Nonsense_Mutation_p.Q309*|PCDH15_ENST00000373955.1_Nonsense_Mutation_p.Q309*|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.Q309*|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.Q287*|PCDH15_ENST00000395442.1_Nonsense_Mutation_p.Q309*|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.Q272*|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.Q309*	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	309	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCCGGTCCTGATCAATGGCT	0.388000										HNSCC(58;0.16)			8	71					0	0	0.000978	0	0
SERPINI2	5276	broad.mit.edu	37	3	167170742	167170742	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:167170742C>T	ENST00000476257.1	-	7	1244	c.946G>A	c.(946-948)Gac>Aac	p.D316N	SERPINI2_ENST00000471111.1_Missense_Mutation_p.D316N|SERPINI2_ENST00000264677.4_Missense_Mutation_p.D316N|SERPINI2_ENST00000461846.1_Missense_Mutation_p.D316N			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	316					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CCAGAAAGGTCGCAGCCACCA	0.284000													5	40					0	0	0.001168	0	0
PI4KA	5297	broad.mit.edu	37	22	21167678	21167678	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr22:21167678G>A	ENST00000255882.6	-	8	1059	c.973C>T	c.(973-975)Cca>Tca	p.P325S	PI4KA_ENST00000572273.1_Missense_Mutation_p.P267S	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	267					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ATTTCCAATGGAATGTTAAAC	0.433000													7	47					0	0	0.000443	0	0
HIF1AN	55662	broad.mit.edu	37	10	102296354	102296354	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:102296354G>A	ENST00000299163.5	+	2	464	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	HIF1AN_ENST00000528044.1_3'UTR	NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	122	Interaction with VHL.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		CAACAGGGAAGAAATGAAATT	0.428000													7	42					0	0	0.003080	0	0
ENAM	10117	broad.mit.edu	37	4	71508794	71508794	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:71508794G>A	ENST00000396073.3	+	9	1932	c.1651G>A	c.(1651-1653)Gaa>Aaa	p.E551K	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	551					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ATACCCTGAGGAAATCCCTTC	0.428000													7	83					0	0	0.000443	0	0
ABCG5	64240	broad.mit.edu	37	2	44059134	44059134	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:44059134C>T	ENST00000405322.1	-	2	1007	c.111G>A	c.(109-111)cgG>cgA	p.R37R	ABCG5_ENST00000260645.1_Silent_p.R118R|ABCG5_ENST00000543989.1_5'UTR			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	118					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGCGCAGCGCCCGGCCGTTCA	0.741000													4	56					0	0	0.000248	0	0
DUOX1	53905	broad.mit.edu	37	15	45431689	45431689	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:45431689C>T	ENST00000321429.4	+	13	1688	c.1281C>T	c.(1279-1281)ggC>ggT	p.G427G	DUOX1_ENST00000561166.1_Silent_p.G73G|DUOX1_ENST00000389037.3_Silent_p.G427G	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	427	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGCAGCGGGGCCGGGATCTGG	0.622000													4	34					0	0	0.000248	0	0
LAMA2	3908	broad.mit.edu	37	6	129634166	129634166	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:129634166G>A	ENST00000421865.2	+	23	3384	c.3335G>A	c.(3334-3336)gGg>gAg	p.G1112E		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1112	Laminin EGF-like 13.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTCCTCCCTGGGACAGATGCC	0.483000													4	42					0	0	0.000248	0	0
POTEA	340441	broad.mit.edu	37	8	43173695	43173695	+	RNA	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:43173695G>A	ENST00000522175.2	+	0	981							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGTGGATTAGTTCCACAAAG	0.408000													5	29					0	0	0.001168	0	0
FREM1	158326	broad.mit.edu	37	9	14775892	14775892	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:14775892C>T	ENST00000380881.4	-	26	5570	c.4755G>A	c.(4753-4755)ggG>ggA	p.G1585G	FREM1_ENST00000422223.2_Silent_p.G1584G|FREM1_ENST00000380894.1_Silent_p.G120G|FREM1_ENST00000380880.3_Silent_p.G1584G|FREM1_ENST00000486223.1_5'UTR			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1584					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCTGGGAGTCCCCTCCTGAGT	0.512000													4	35					0	0	0.000602	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43927299	43927299	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:43927299C>T	ENST00000282406.4	+	8	1312	c.1202C>T	c.(1201-1203)tCg>tTg	p.S401L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	401	Poly-Ser.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCATCTTCATCGAGTGAAGCC	0.398000													14	217					0	0	0.001855	0	0
FGF10	2255	broad.mit.edu	37	5	44305163	44305163	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:44305163C>T	ENST00000264664.4	-	3	675	c.561G>A	c.(559-561)agG>agA	p.R187R		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	187					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					TCTGTCCTCTCCTTGGAGCTC	0.433000													8	61					0	0	0.004482	0	0
PCLO	27445	broad.mit.edu	37	7	82580151	82580151	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:82580151G>A	ENST00000423517.2	-	6	10090	c.9753C>T	c.(9751-9753)atC>atT	p.I3251I	PCLO_ENST00000333891.8_Silent_p.I3251I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3182					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTGAACCATGATCTTTTCTT	0.468000													12	60					0	0	0.000978	0	0
ITGAD	3681	broad.mit.edu	37	16	31425858	31425858	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:31425858C>T	ENST00000389202.2	+	17	2132	c.2083C>T	c.(2083-2085)Ccc>Tcc	p.P695S		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	695					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AACCAAGAACCCCACTTTGAC	0.522000													13	144					0	0	0.003163	0	0
MKX	283078	broad.mit.edu	37	10	27964465	27964465	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:27964465G>A	ENST00000375790.5	-	6	1289	c.857C>T	c.(856-858)tCc>tTc	p.S286F	MKX_ENST00000419761.1_Missense_Mutation_p.S286F			Q8IYA7	MKX_HUMAN	mohawk homeobox	286					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						ACCCTTATTGGATCCGTTTTC	0.378000													5	26					0	0	0.000602	0	0
VSTM4	196740	broad.mit.edu	37	10	50315758	50315758	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:50315758G>A	ENST00000332853.3	-	2	361	c.338C>T	c.(337-339)tCc>tTc	p.S113F	VSTM4_ENST00000298454.3_Missense_Mutation_p.S113F	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	113	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						TGTCAAGACGGAGAGCCTGTA	0.622000													8	43					0	0	0.000443	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169711967	169711967	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:169711967G>A	ENST00000444448.2	+	14	1608	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K	NOSTRIN_ENST00000458381.2_Missense_Mutation_p.E378K|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.E293K|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.E243K|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.E243K|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.E293K|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.E321K			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	321					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						AAAAGACAAGGAAGGTGTGTA	0.393000													5	27					0	0	0.000602	0	0
KLHL13	90293	broad.mit.edu	37	X	117054225	117054225	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:117054225C>T	ENST00000371876.1	-	2	2617	c.196G>A	c.(196-198)Gat>Aat	p.D66N	KLHL13_ENST00000469946.1_Missense_Mutation_p.D66N|KLHL13_ENST00000371882.1_Missense_Mutation_p.D66N|KLHL13_ENST00000540167.1_Missense_Mutation_p.D101N|KLHL13_ENST00000371878.1_Missense_Mutation_p.D66N|KLHL13_ENST00000262820.3_Missense_Mutation_p.D117N|KLHL13_ENST00000545703.1_Missense_Mutation_p.D75N|KLHL13_ENST00000539496.1_Missense_Mutation_p.D120N|KLHL13_ENST00000541812.1_Missense_Mutation_p.D101N			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	117					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TTGAAGTAATCACTAGCAGAT	0.388000													8	59					0	0	0.000673	0	0
TLL1	7092	broad.mit.edu	37	4	166795173	166795173	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:166795173G>A	ENST00000061240.2	+	1	764	c.117G>A	c.(115-117)ggG>ggA	p.G39G	TLL1_ENST00000507499.1_Silent_p.G39G|TLL1_ENST00000513213.1_Silent_p.G39G	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	39					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CTTTTGATGGGAACGAAGAGG	0.567000													9	103					0	0	0.000443	0	0
TLL2	7093	broad.mit.edu	37	10	98180773	98180773	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:98180773G>A	ENST00000357947.3	-	7	1088	c.863C>T	c.(862-864)tCt>tTt	p.S288F	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	288	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CTCTCCCAGAGAGCTCACTTC	0.468000													7	45					0	0	0.003080	0	0
OR2M7	391196	broad.mit.edu	37	1	248487354	248487354	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:248487354C>T	ENST00000317965.2	-	1	545	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGGCTATTTCCCGAGACCCA	0.433000													5	74					0	0	0.001168	0	0
DSG1	1828	broad.mit.edu	37	18	28934690	28934690	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr18:28934690C>T	ENST00000257192.4	+	15	2743	c.2531C>T	c.(2530-2532)tCt>tTt	p.S844F	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.S203F	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	844					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TACACCACCTCTGACACTCTG	0.537000													5	64					0	0	0.001168	0	0
RPAP3	79657	broad.mit.edu	37	12	48091465	48091465	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:48091465G>A	ENST00000005386.3	-	4	447	c.332C>T	c.(331-333)aCc>aTc	p.T111I	RPAP3_ENST00000432584.3_5'UTR|RPAP3_ENST00000380650.4_Missense_Mutation_p.T111I	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	111							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					AGACTCATGGGTACTATCGTC	0.353000													7	55					0	0	0.003080	0	0
SLC3A1	6519	broad.mit.edu	37	2	44513267	44513267	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:44513267C>T	ENST00000260649.6	+	4	938	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C	SLC3A1_ENST00000409380.1_Missense_Mutation_p.R10C|SLC3A1_ENST00000409741.1_Missense_Mutation_p.R288C|SLC3A1_ENST00000409387.1_Missense_Mutation_p.R288C|SLC3A1_ENST00000409229.3_Missense_Mutation_p.R288C|SLC3A1_ENST00000410056.3_Missense_Mutation_p.R288C	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	288					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	TTTAAATTTCCGCAATCCTGA	0.343000													5	53					0	0	0.000602	0	0
COL6A6	131873	broad.mit.edu	37	3	130292980	130292980	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:130292980C>T	ENST00000358511.6	+	7	3189	c.3158C>T	c.(3157-3159)cCa>cTa	p.P1053L	COL6A6_ENST00000453409.2_Missense_Mutation_p.P1053L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1053	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCGGAGTTTCCACTGGGAACT	0.453000													6	20					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179665281	179665281	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179665281C>T	ENST00000589042.1	-	4	648	c.424G>A	c.(424-426)Gcc>Acc	p.A142T	TTN_ENST00000360870.5_Missense_Mutation_p.A142T|TTN_ENST00000591111.1_Missense_Mutation_p.A142T|TTN_ENST00000342992.6_Missense_Mutation_p.A142T|TTN_ENST00000342175.6_Missense_Mutation_p.A142T|TTN_ENST00000460472.2_Missense_Mutation_p.A142T|TTN_ENST00000359218.5_Missense_Mutation_p.A142T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	142	Ig-like 2.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGATTTCGGCTCCATCCCGG	0.507000													5	53					0	0	0.000602	0	0
INSR	3643	broad.mit.edu	37	19	7142980	7142980	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:7142980G>A	ENST00000341500.5	-	11	2392	c.2353C>T	c.(2353-2355)Cct>Tct	p.P785S	INSR_ENST00000302850.5_Missense_Mutation_p.P797S	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	797	Fibronectin type-III 2.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCTCAAAAGGCCTGTGCTCC	0.617000													13	119					0	0	0.001368	0	0
PTPRB	5787	broad.mit.edu	37	12	70953209	70953209	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:70953209C>T	ENST00000334414.6	-	18	4672	c.4628G>A	c.(4627-4629)gGg>gAg	p.G1543E	PTPRB_ENST00000538708.1_Missense_Mutation_p.G1235E|PTPRB_ENST00000550857.1_Missense_Mutation_p.G1235E|PTPRB_ENST00000551525.1_Missense_Mutation_p.G1542E|PTPRB_ENST00000550358.1_Missense_Mutation_p.G1455E|PTPRB_ENST00000451516.2_Missense_Mutation_p.G1235E|PTPRB_ENST00000261266.5_Missense_Mutation_p.G1325E	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1325	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATAGGATCTCCCTGGACGAAG	0.438000													5	80					0	0	0.000602	0	0
NEBL	10529	broad.mit.edu	37	10	21098760	21098760	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:21098760C>T	ENST00000377122.4	-	25	2982	c.2586G>A	c.(2584-2586)caG>caA	p.Q862Q	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	862	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GACTTCTAGACTGAATATTGT	0.423000													5	32					0	0	0.001168	0	0
CYP4A11	1579	broad.mit.edu	37	1	47403795	47403795	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:47403795C>T	ENST00000310638.4	-	2	241	c.210G>A	c.(208-210)caG>caA	p.Q70Q	CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Silent_p.Q70Q|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371905.1_Silent_p.Q70Q	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	70					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GTTGTAGCTCCTGGTCCTGTT	0.502000													6	53					0	0	0.003080	0	0
ZNF275	10838	broad.mit.edu	37	X	152612745	152612745	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:152612745G>A	ENST00000421401.3	+	4	779	c.602G>A	c.(601-603)aGg>aAg	p.R201K	ZNF275_ENST00000370251.2_Missense_Mutation_p.R201K|ZNF275_ENST00000370249.2_Missense_Mutation_p.R148K|ZNF275_ENST00000440091.1_Missense_Mutation_p.R231K	NM_001080485.3	NP_001073954.3	A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	201						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCATCTGAGGGTCCACAGC	0.547000													5	80					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179439461	179439461	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179439461G>A	ENST00000589042.1	-	326	71622	c.71398C>T	c.(71398-71400)Cgt>Tgt	p.R23800C	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R22159C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R21232C|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R14927C|TTN_ENST00000460472.2_Missense_Mutation_p.R14735C|TTN_ENST00000359218.5_Missense_Mutation_p.R14860C|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22159	Fibronectin type-III 73.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTTTACACGGAACTGATAC	0.478000													5	42					0	0	0.000602	0	0
PLK4	10733	broad.mit.edu	37	4	128812330	128812330	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:128812330G>A	ENST00000270861.5	+	8	2188	c.1914G>A	c.(1912-1914)caG>caA	p.Q638Q	PLK4_ENST00000513090.1_Silent_p.Q606Q|PLK4_ENST00000514379.1_Silent_p.Q597Q|PLK4_ENST00000515069.1_Silent_p.Q560Q|PLK4_ENST00000507249.1_Intron	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	638					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						AAGTTCTTCAGATATCTAGTG	0.328000													7	50					0	0	0.001984	0	0
LYPD6	130574	broad.mit.edu	37	2	150327244	150327244	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:150327244C>T	ENST00000334166.4	+	5	653	c.396C>T	c.(394-396)ccC>ccT	p.P132P	LYPD6_ENST00000409381.1_Silent_p.P132P	NM_194317.3	NP_919298.1	Q86Y78	LYPD6_HUMAN	LY6/PLAUR domain containing 6	132	UPAR/Ly6.					extracellular region				large_intestine(1)|lung(4)	5				BRCA - Breast invasive adenocarcinoma(221;0.0667)		TGCCACTGCCCCGAAATGAAA	0.443000													5	41					0	0	0.001168	0	0
GRM8	2918	broad.mit.edu	37	7	126173281	126173281	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:126173281G>A	ENST00000339582.2	-	9	2963	c.2155C>T	c.(2155-2157)Ccc>Tcc	p.P719S	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.P719S|GRM8_ENST00000358373.3_Missense_Mutation_p.P719S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	719					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ATGATGTGGGGGGGATCCACA	0.512000										HNSCC(24;0.065)			4	23					0	0	0.000248	0	0
MKX	283078	broad.mit.edu	37	10	27964240	27964240	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:27964240C>T	ENST00000375790.5	-	7	1409	c.977G>A	c.(976-978)gGa>gAa	p.G326E	MKX_ENST00000419761.1_Missense_Mutation_p.G326E			Q8IYA7	MKX_HUMAN	mohawk homeobox	326					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GCTGGTAGTTCCCTGCAGTTT	0.468000													6	61					0	0	0.003080	0	0
GNAT2	2780	broad.mit.edu	37	1	110152749	110152749	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:110152749G>A	ENST00000351050.3	-	3	402	c.216C>T	c.(214-216)atC>atT	p.I72I		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	72					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TTCCATAGATGATAGCCTTGA	0.502000													7	78					0	0	0.001984	0	0
ALOX15B	247	broad.mit.edu	37	17	7950292	7950292	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:7950292C>T	ENST00000380183.4	+	10	1494	c.1355C>T	c.(1354-1356)tCt>tTt	p.S452F	ALOX15B_ENST00000573359.1_Missense_Mutation_p.S423F|ALOX15B_ENST00000380173.2_Missense_Mutation_p.S423F|ALOX15B_ENST00000572022.1_Missense_Mutation_p.S452F	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	452	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	p.S452F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CTGAACTATTCTCTCCTGTGT	0.522000													4	30					0	0	0.000248	0	0
MYOCD	93649	broad.mit.edu	37	17	12656442	12656442	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:12656442C>T	ENST00000425538.1	+	10	2037	c.1837C>T	c.(1837-1839)Cat>Tat	p.H613Y	MYOCD_ENST00000395988.1_Missense_Mutation_p.H517Y|MYOCD_ENST00000343344.4_Missense_Mutation_p.H613Y	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	613					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGGAAATGCTCATTGTGTGGA	0.517000													8	58					0	0	0.000443	0	0
GCNT4	51301	broad.mit.edu	37	5	74325413	74325413	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:74325413G>A	ENST00000322348.4	-	1	1311	c.450C>T	c.(448-450)atC>atT	p.I150I		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	150					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		ATATAGCATGGATAAGCCTTT	0.393000													5	92					0	0	0.000602	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141231633	141231633	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:141231633G>A	ENST00000389328.4	-	17	2789	c.2775C>T	c.(2773-2775)gtC>gtT	p.V925V	TRAPPC9_ENST00000438773.2_Silent_p.V827V|TRAPPC9_ENST00000389327.3_Silent_p.V818V	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	827					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GGGGCCGAACGACCTGCCGAA	0.522000													7	23					0	0	0.001984	0	0
PTPRK	5796	broad.mit.edu	37	6	128643452	128643452	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:128643452G>A	ENST00000368227.3	-	3	593	c.227C>T	c.(226-228)tCc>tTc	p.S76F	PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368215.3_Missense_Mutation_p.S76F|PTPRK_ENST00000368213.5_Missense_Mutation_p.S76F|PTPRK_ENST00000368226.4_Missense_Mutation_p.S76F|PTPRK_ENST00000532331.1_Missense_Mutation_p.S76F|PTPRK_ENST00000368210.3_Missense_Mutation_p.S76F|PTPRK_ENST00000525459.1_Missense_Mutation_p.S76F|PTPRK_ENST00000368207.3_Missense_Mutation_p.S76F			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	76	MAM.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TATCATATAGGAACCTGAAAT	0.353000													6	51					0	0	0.001984	0	0
CCDC144NL	339184	broad.mit.edu	37	17	20799116	20799116	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:20799116T>C	ENST00000327925.5	-	1	337	c.218A>G	c.(217-219)cAg>cGg	p.Q73R	RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	73										large_intestine(3)|lung(3)|skin(1)	7						GACATCGTGCTGGAGCTGGTC	0.652000													6	52					0	0	0.003080	0	0
ZBP1	81030	broad.mit.edu	37	20	56185313	56185313	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:56185313G>A	ENST00000340462.4	-	6	1196	c.916C>T	c.(916-918)Ctc>Ttc	p.L306F	ZBP1_ENST00000395822.3_Missense_Mutation_p.L254F|ZBP1_ENST00000371173.3_Missense_Mutation_p.L329F|ZBP1_ENST00000343535.4_Missense_Mutation_p.L329F			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	329						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GCGTCCTCGAGAAAGCACGAT	0.597000													7	105					0	0	0.001984	0	0
VPS35	55737	broad.mit.edu	37	16	46695716	46695716	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:46695716G>A	ENST00000299138.7	-	16	2183	c.2125C>T	c.(2125-2127)Cag>Tag	p.Q709*		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	709					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCCATGCACTGATTTGCTATT	0.373000													11	78					0	0	0.001855	0	0
TRIM48	79097	broad.mit.edu	37	11	55032390	55032390	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:55032390G>A	ENST00000417545.2	+	2	145	c.59G>A	c.(58-60)gGa>gAa	p.G20E		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	4						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ATGAATTCTGGAATCTCGCAA	0.473000													7	68					0	0	0.003080	0	0
SP7	121340	broad.mit.edu	37	12	53722796	53722796	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:53722796G>A	ENST00000536324.2	-	3	713	c.430C>T	c.(430-432)Cat>Tat	p.H144Y	SP7_ENST00000537210.2_Missense_Mutation_p.H126Y|SP7_ENST00000303846.3_Missense_Mutation_p.H144Y	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						ATGCCTGCATGGATGCCTGCC	0.592000													4	19					0	0	0.000248	0	0
CD2AP	23607	broad.mit.edu	37	6	47575686	47575686	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:47575686C>T	ENST00000359314.5	+	15	2010	c.1554C>T	c.(1552-1554)atC>atT	p.I518I	CD2AP_ENST00000486693.1_3'UTR	NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	518					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			CCGAAAAAATCTTGAAGTTAC	0.368000													5	64					0	0	0.001168	0	0
TECTA	7007	broad.mit.edu	37	11	121016447	121016447	+	Missense_Mutation	SNP	C	C	T	rs140869937		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:121016447C>T	ENST00000392793.1	+	12	3998	c.3727C>T	c.(3727-3729)Cgc>Tgc	p.R1243C	TECTA_ENST00000478058.1_3'UTR|TECTA_ENST00000264037.2_Missense_Mutation_p.R1243C			O75443	TECTA_HUMAN	tectorin alpha	1243	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCTGTGTGGCCGCTACAACGG	0.532000													7	44					0	0	0.003080	0	0
AKAP9	10142	broad.mit.edu	37	7	91631574	91631574	+	Silent	SNP	A	A	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:91631574A>G	ENST00000359028.2	+	9	2604	c.2379A>G	c.(2377-2379)aaA>aaG	p.K793K	AKAP9_ENST00000356239.3_Silent_p.K781K|AKAP9_ENST00000358100.2_Silent_p.K793K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	793	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCATTCTTAAAGATGAAAAGA	0.313000			T	BRAF	papillary thyroid								7	101					0	0	0.004482	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42861441	42861441	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr21:42861441C>T	ENST00000398585.3	-	4	489	c.429G>A	c.(427-429)tgG>tgA	p.W143*	TMPRSS2_ENST00000458356.1_Nonsense_Mutation_p.W106*|TMPRSS2_ENST00000332149.5_Nonsense_Mutation_p.W106*|TMPRSS2_ENST00000497881.1_Intron	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	106	LDL-receptor class A.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TACTGAACTTCCAGAGTAGGC	0.592000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								4	24					0	0	0.000602	0	0
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	RNA	SNP	T	T	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562000													5	98					0	0	0.000602	0	0
RASSF9	9182	broad.mit.edu	37	12	86199395	86199395	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:86199395G>A	ENST00000361228.3	-	2	761	c.393C>T	c.(391-393)gcC>gcT	p.A131A		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	131					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCACTAATTTGGCTTCAGCTG	0.418000													7	128					0	0	0.001984	0	0
NLRP4	147945	broad.mit.edu	37	19	56363680	56363680	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:56363680G>A	ENST00000301295.6	+	2	656	c.234G>A	c.(232-234)aaG>aaA	p.K78K	NLRP4_ENST00000346986.5_Silent_p.K78K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	78	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCTTTCAAAAGATGGATAGAA	0.433000													7	63					0	0	0.001984	0	0
TENM1	10178	broad.mit.edu	37	X	123657236	123657236	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:123657236C>T	ENST00000422452.2	-	17	3074	c.3011G>A	c.(3010-3012)gGa>gAa	p.G1004E	TENM1_ENST00000371130.3_Missense_Mutation_p.G1004E	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AACAATAGTTCCCCTCTCTGG	0.433000													6	52					0	0	0.001168	0	0
CNOT6L	246175	broad.mit.edu	37	4	78647417	78647417	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:78647417A>T	ENST00000504123.1	-	11	1489	c.1359T>A	c.(1357-1359)aaT>aaA	p.N453K	CNOT6L_ENST00000264903.4_Missense_Mutation_p.N453K			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	453					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CTGAGCTTCCATTCTTTCCAT	0.398000													9	85					0	0	0.000443	0	0
SCN8A	6334	broad.mit.edu	37	12	52188360	52188360	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:52188360G>A	ENST00000354534.5	+	26	4908	c.4730G>A	c.(4729-4731)aGg>aAg	p.R1577K	SCN8A_ENST00000545061.1_Missense_Mutation_p.R1536K	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1577					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TTTGCGTTGAGGCACTACTAC	0.488000													4	24					0	0	0.000248	0	0
TCEAL2	140597	broad.mit.edu	37	X	101382337	101382337	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:101382337G>A	ENST00000372780.1	+	3	754	c.535G>A	c.(535-537)Gat>Aat	p.D179N	TCEAL2_ENST00000329035.2_Missense_Mutation_p.D179N	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						TAGGGTGGAGGATAAAAGGAG	0.433000													9	91					0	0	0.000673	0	0
PRKX	5613	broad.mit.edu	37	X	3592649	3592649	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:3592649G>A	ENST00000262848.5	-	2	679	c.325C>T	c.(325-327)Ctc>Ttc	p.L109F		NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	109	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				AGCCTGATGAGGAACGGGTGG	0.567000													7	44					0	0	0.001984	0	0
TTC40	54777	broad.mit.edu	37	10	134660700	134660700	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:134660700C>T	ENST00000368586.5	-	42	6178	c.6078G>A	c.(6076-6078)gaG>gaA	p.E2026E	TTC40_ENST00000263170.5_Silent_p.E187E	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	187										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CCTTCAGGTCCTCGCCTCTCC	0.682000													5	25					0	0	0.000602	0	0
CCDC19	25790	broad.mit.edu	37	1	159857657	159857657	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:159857657C>T	ENST00000426543.2	-	5	762	c.307G>A	c.(307-309)Gag>Aag	p.E103K	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.E188K			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	188						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			AGCTCCTCCTCCTGCTCCATC	0.597000													9	67					0	0	0.000978	0	0
LRP2BP	55805	broad.mit.edu	37	4	186288400	186288400	+	Splice_Site	SNP	C	C	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:186288400C>A	ENST00000362004.3	-	8	1796		c.e8-1		LRP2BP_ENST00000510776.1_Splice_Site|LRP2BP_ENST00000328559.7_Splice_Site|LRP2BP_ENST00000505916.1_Splice_Site			Q9P2M1	LR2BP_HUMAN	LRP2 binding protein							cytoplasm	protein binding			breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		GACGACAAGCCTTAAAATCAA	0.299000													6	85					0.00198382	0.00402824	0.001984	1	0
CPAMD8	27151	broad.mit.edu	37	19	17007076	17007076	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:17007076C>T	ENST00000443236.1	-	41	5509	c.5478G>A	c.(5476-5478)ccG>ccA	p.P1826P	CPAMD8_ENST00000597335.1_5'UTR	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1779						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTAAAGGCCCCGGGGCCACAG	0.677000													4	13					0	0	0.000602	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883353	228883353	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:228883353C>T	ENST00000392056.3	-	7	2263	c.2217G>A	c.(2215-2217)aaG>aaA	p.K739K	SPHKAP_ENST00000344657.5_Silent_p.K739K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	739						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGATGGTCTCCTTAGAAAGGA	0.473000													7	76					0	0	0.001984	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021294	142021294	+	RNA	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:142021294C>T	ENST00000390381.3	+	0	583																											CTCTAACTCTCGCTCTGAGAT	0.522000													7	20					0	0	0.004482	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45258323	45258323	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr22:45258323C>T	ENST00000352766.7	+	17	1780	c.1780C>T	c.(1780-1782)Ccg>Tcg	p.P594S	ARHGAP8_ENST00000517296.3_Missense_Mutation_p.P594S|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.P384S|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.P506S|ARHGAP8_ENST00000336963.4_3'UTR|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.P515S|ARHGAP8_ENST00000389774.2_Missense_Mutation_p.P415S																breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						CTTCAGCACCCCGGAGGCACC	0.622000													4	19					0	0	0.000248	0	0
HDAC3	8841	broad.mit.edu	37	5	141014470	141014470	+	Silent	SNP	G	G	A	rs141667982	byFrequency	TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:141014470G>A	ENST00000305264.3	-	3	268	c.189C>T	c.(187-189)tcC>tcT	p.S63S		NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	63	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	TGTAGTCCTCGGAGTGGAAGC	0.552000													6	50					0	0	0.001168	0	0
RALGPS1	9649	broad.mit.edu	37	9	129728188	129728188	+	Silent	SNP	C	C	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:129728188C>A	ENST00000259351.5	+	3	390	c.123C>A	c.(121-123)gcC>gcA	p.A41A	RALGPS1_ENST00000424082.2_Silent_p.A41A|RALGPS1_ENST00000373436.1_Silent_p.A41A|RALGPS1_ENST00000373434.1_Silent_p.A41A|RALGPS1_ENST00000480993.1_3'UTR|RALGPS1_ENST00000394022.3_Silent_p.A41A|RALGPS1_ENST00000394011.3_Silent_p.A41A	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	41					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GCTATGATGCCGTTGTCTTCG	0.572000													4	54					0.00116845	0.00238229	0.001168	1	0
ARSH	347527	broad.mit.edu	37	X	2931203	2931203	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:2931203G>A	ENST00000381130.2	+	3	330	c.330G>A	c.(328-330)acG>acA	p.T110T		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	110						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GCTACCGCACGGGACTCATAG	0.572000													4	36					0	0	0.000602	0	0
AUTS2	26053	broad.mit.edu	37	7	70246732	70246732	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:70246732C>T	ENST00000342771.4	+	15	2457	c.2136C>T	c.(2134-2136)ttC>ttT	p.F712F	AUTS2_ENST00000406775.2_Silent_p.F688F	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	712										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CAACTTTGTTCTCTGCCGCTG	0.552000													7	43					0	0	0.003080	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756882	56756882	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:56756882C>T	ENST00000326855.2	+	1	536	c.494C>T	c.(493-495)tCa>tTa	p.S165L		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TTTACATGTTCACTGTCCTTC	0.413000													6	74					0	0	0.001984	0	0
GUCY2C	2984	broad.mit.edu	37	12	14766225	14766225	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:14766225C>T	ENST00000261170.3	-	27	3184	c.3047_splice	c.e27-1	p.V1016_splice	RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	1016					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GTTGATTCTCCCTGGAAACAG	0.413000													7	32					0	0	0.001984	0	0
NIN	51199	broad.mit.edu	37	14	51224444	51224444	+	Silent	SNP	A	A	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:51224444A>G	ENST00000245441.5	-	18	3494	c.3304T>C	c.(3304-3306)Tta>Cta	p.L1102L	NIN_ENST00000389868.3_Intron|NIN_ENST00000382043.4_Intron|NIN_ENST00000324330.9_Silent_p.L1102L|NIN_ENST00000382041.3_Silent_p.L1102L|NIN_ENST00000453196.1_Silent_p.L1102L|NIN_ENST00000530997.2_Silent_p.L1102L	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1102					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GACATTACTAACCCTGGCTCT	0.418000			T	PDGFRB	MPD								8	113					0	0	0.003080	0	0
LEPR	3953	broad.mit.edu	37	1	66075946	66075946	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:66075946G>A	ENST00000349533.6	+	14	2147	c.1962G>A	c.(1960-1962)atG>atA	p.M654I	LEPR_ENST00000344610.8_Missense_Mutation_p.M654I|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.M654I|LEPR_ENST00000371059.3_Missense_Mutation_p.M654I|LEPR_ENST00000371060.3_Missense_Mutation_p.M654I	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	654	Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GAGATACTATGAAAAAGGAGA	0.284000													11	38					0	0	0.000978	0	0
PDZD2	23037	broad.mit.edu	37	5	32090176	32090176	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:32090176G>A	ENST00000438447.1	+	20	7010	c.6622G>A	c.(6622-6624)Ggg>Agg	p.G2208R	PDZD2_ENST00000282493.3_Missense_Mutation_p.G2208R			O15018	PDZD2_HUMAN	PDZ domain containing 2	2208					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGGCCCCTCGGGGGAGGACCA	0.582000													9	101					0	0	0.004482	0	0
TNXB	7148	broad.mit.edu	37	6	32010370	32010370	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:32010370G>A	ENST00000375244.3	-	40	12273	c.12072C>T	c.(12070-12072)atC>atT	p.I4024I	TNXB_ENST00000375247.2_Silent_p.I4022I|TNXB_ENST00000451343.1_Silent_p.I453I			P22105	TENX_HUMAN	tenascin XB	4069	Fibronectin type-III 32.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGGGGAAGGGGATCCGCAGCC	0.701000													4	30					0	0	0.001984	0	0
SDK1	221935	broad.mit.edu	37	7	4152949	4152949	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:4152949G>A	ENST00000404826.2	+	24	3602	c.3463G>A	c.(3463-3465)Ggg>Agg	p.G1155R	SDK1_ENST00000389531.3_Missense_Mutation_p.G1155R	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1155	Fibronectin type-III 5.				cell adhesion	integral to membrane		p.G1155W(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GAACATTGTTGGGCCGAGCCC	0.542000													14	125					0	0	0.001855	0	0
DUSP21	63904	broad.mit.edu	37	X	44703829	44703829	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:44703829G>A	ENST00000339042.4	+	1	581	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	151	Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						CGGCTTTTGGGAACAGCTCAT	0.517000													6	36					0	0	0.001168	0	0
BLM	641	broad.mit.edu	37	15	91346770	91346770	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:91346770C>T	ENST00000355112.3	+	18	3496	c.3378C>T	c.(3376-3378)atC>atT	p.I1126I	BLM_ENST00000560509.1_Intron|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1126					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GTGCAAAAATCCAGTCAGGTA	0.348000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				14	186					0	0	0.006122	0	0
TRIM55	84675	broad.mit.edu	37	8	67039669	67039669	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:67039669C>A	ENST00000315962.4	+	1	539	c.166C>A	c.(166-168)Cag>Aag	p.Q56K	TRIM55_ENST00000276573.7_Missense_Mutation_p.Q56K|TRIM55_ENST00000350034.4_Missense_Mutation_p.Q56K|TRIM55_ENST00000353317.5_Missense_Mutation_p.Q56K	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	56						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TGATATTTTCCAGGTAGGTTT	0.443000													5	84					0.00198382	0.00402824	0.001984	1	0
PANK1	53354	broad.mit.edu	37	10	91359139	91359139	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:91359139G>A	ENST00000307534.4	-	3	1335	c.1180C>T	c.(1180-1182)Cct>Tct	p.P394S	PANK1_ENST00000371774.2_Missense_Mutation_p.P196S|PANK1_ENST00000342512.3_Missense_Mutation_p.P169S|PANK1_ENST00000322191.6_Missense_Mutation_p.P169S	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	394					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	CACAATTCAGGATTTGTGGGA	0.453000													10	53					0	0	0.000443	0	0
FAT3	120114	broad.mit.edu	37	11	92577815	92577815	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:92577815C>T	ENST00000298047.6	+	18	11299	c.11282C>T	c.(11281-11283)tCc>tTc	p.S3761F	FAT3_ENST00000409404.2_Missense_Mutation_p.S3761F|FAT3_ENST00000533797.1_Missense_Mutation_p.S96F|FAT3_ENST00000525166.1_Missense_Mutation_p.S3611F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3761					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCACTCGATTCCCACGCGCTC	0.537000										TCGA Ovarian(4;0.039)			13	129					0	0	0.001368	0	0
PCED1B	91523	broad.mit.edu	37	12	47629331	47629331	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:47629331G>A	ENST00000546455.1	+	4	1216	c.485G>A	c.(484-486)tGg>tAg	p.W162*	PCED1B_ENST00000432328.1_Nonsense_Mutation_p.W162*					PC-esterase domain containing 1B																		CTCCTGGTGTGGAACACGGCC	0.602000													7	34					0	0	0.003080	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394693	233394693	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:233394693C>T	ENST00000258229.8	-	5	1149	c.915G>A	c.(913-915)caG>caA	p.Q305Q	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	305						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TCAGGCTGTCCTGAGGTGACT	0.577000													7	37					0	0	0.003080	0	0
SMG1	23049	broad.mit.edu	37	16	18846287	18846287	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:18846287G>A	ENST00000446231.2	-	49	8669	c.8257C>T	c.(8257-8259)Ctt>Ttt	p.L2753F	SMG1_ENST00000389467.3_Missense_Mutation_p.L2753F			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2753					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTCTCATGAAGGAAAACTTTA	0.393000													6	120					0	0	0.001984	0	0
TP53	7157	broad.mit.edu	37	17	7576855	7576855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:7576855G>A	ENST00000420246.2	-	9	1123	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	TP53_ENST00000269305.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q331*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	331	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(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)		CTTAGTACCTGAAGGGTGAAA	0.448000		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)			5	37					0	0	0.003080	0	0
ADH1C	126	broad.mit.edu	37	4	100264011	100264011	+	RNA	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:100264011C>T	ENST00000515683.1	-	0	1120					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	TCAGTCATTTCCTTTAGCACT	0.458000													14	139					0	0	0.001855	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515816	140515816	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:140515816G>A	ENST00000231134.5	+	1	1017	c.800G>A	c.(799-801)cGa>cAa	p.R267Q		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		267	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCTCCGCTCGAGATTTAGAT	0.438000													13	96					0	0	0.001855	0	0
ABCG8	64241	broad.mit.edu	37	2	44099372	44099372	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:44099372C>T	ENST00000272286.2	+	8	1228	c.1138C>T	c.(1138-1140)Cca>Tca	p.P380S		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	380					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAGCGTGACCCCACTAGACAC	0.567000													12	137					0	0	0.003163	0	0
SLC22A16	85413	broad.mit.edu	37	6	110777904	110777904	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:110777904G>A	ENST00000368919.3	-	2	436	c.370C>T	c.(370-372)Cct>Tct	p.P124S	SLC22A16_ENST00000439654.1_Missense_Mutation_p.P124S|SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000456137.2_Missense_Mutation_p.P124S|SLC22A16_ENST00000330550.4_Missense_Mutation_p.P90S	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	124					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	p.P124S(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		TCCACACAAGGAAACTCTTTC	0.478000													7	48					0	0	0.001984	0	0
SYN2	6854	broad.mit.edu	37	3	12183415	12183415	+	RNA	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:12183415C>T	ENST00000432424.2	+	0	618							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						GCAGAATTTTCAGAGCTCAAC	0.478000													12	178					0	0	0.001855	0	0
UNC45B	146862	broad.mit.edu	37	17	33507639	33507639	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:33507639G>A	ENST00000268876.5	+	18	2420	c.2323G>A	c.(2323-2325)Gat>Aat	p.D775N	UNC45B_ENST00000433649.1_Missense_Mutation_p.D773N|UNC45B_ENST00000378449.1_Missense_Mutation_p.D694N|UNC45B_ENST00000591048.1_Missense_Mutation_p.D694N|UNC45B_ENST00000394570.2_Missense_Mutation_p.D773N	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	775					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGAGAATCATGATCAGCTGCG	0.562000													4	26					0	0	0.001168	0	0
IGLV2-18	28814	broad.mit.edu	37	22	23077577	23077577	+	RNA	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr22:23077577C>T	ENST00000390310.2	+	0	367																											GCAGCACTTTCCACAGAGGTC	0.577000													7	39					0	0	0.001984	0	0
KIAA1109	84162	broad.mit.edu	37	4	123192396	123192396	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:123192396C>T	ENST00000264501.4	+	47	8090	c.7717C>T	c.(7717-7719)Cgt>Tgt	p.R2573C	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R2573C|KIAA1109_ENST00000455637.1_Missense_Mutation_p.R2573C			Q2LD37	K1109_HUMAN	KIAA1109	2573					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGCTTTGGTTCGTCTTATTCA	0.393000													6	53					0	0	0.001168	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456309	5456309	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:5456309C>T	ENST00000222033.4	+	1	884	c.807C>T	c.(805-807)ttC>ttT	p.F269F		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	269						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		TATCAGCCTTCTTTGTCCTGA	0.662000													4	37					0	0	0.000248	0	0
DPPA2	151871	broad.mit.edu	37	3	109031534	109031534	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:109031534G>A	ENST00000478945.1	-	3	285	c.39C>T	c.(37-39)ttC>ttT	p.F13F		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	13						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCCCCTCCAAGAAATTCTGGA	0.398000													5	45					0	0	0.001168	0	0
POT1	25913	broad.mit.edu	37	7	124503575	124503575	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:124503575G>A	ENST00000357628.3	-	8	973	c.375C>T	c.(373-375)ttC>ttT	p.F125F	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	125					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.F125F(4)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CCTCAGTAGTGAAGTTAAAAT	0.443000													5	33					0	0	0.000602	0	0
MAP1A	4130	broad.mit.edu	37	15	43814443	43814443	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:43814443C>T	ENST00000382031.1	+	5	1517	c.1486C>T	c.(1486-1488)Ccc>Tcc	p.P496S	MAP1A_ENST00000399453.1_Missense_Mutation_p.P258S|MAP1A_ENST00000300231.5_Missense_Mutation_p.P258S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	258	9 X 3 AA repeats of K-K-[DE].|Lys-rich (basic).					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ACCAGCCAATCCCACTGAGAA	0.532000													9	48					0	0	0.000443	0	0
SLC17A1	6568	broad.mit.edu	37	6	25819986	25819986	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:25819986C>T	ENST00000244527.4	-	4	480	c.365G>A	c.(364-366)aGc>aAc	p.S122N	SLC17A1_ENST00000468082.1_Missense_Mutation_p.S122N|SLC17A1_ENST00000427328.1_Missense_Mutation_p.S122N|SLC17A1_ENST00000476801.1_Missense_Mutation_p.S122N	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	122					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GATGAGCAGGCTTAACACAGA	0.433000													4	35					0	0	0.000248	0	0
OR6Q1	219952	broad.mit.edu	37	11	57798551	57798551	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:57798551G>A	ENST00000302622.3	+	1	150	c.127G>A	c.(127-129)Gag>Aag	p.E43K	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				CACCTTGGTGGAGAATTTGGC	0.478000													6	91					0	0	0.001168	0	0
CCDC60	160777	broad.mit.edu	37	12	119773030	119773030	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:119773030G>A	ENST00000327554.2	+	1	514	c.49G>A	c.(49-51)Ggg>Agg	p.G17R	CCDC60_ENST00000536742.1_Missense_Mutation_p.G17R|CCDC60_ENST00000546345.1_3'UTR|CCDC60_ENST00000539847.1_Missense_Mutation_p.G17R	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	17										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCCCAACTCGGGGGCTGTCCG	0.483000													5	38					0	0	0.001168	0	0
PLXNA4	91584	broad.mit.edu	37	7	132169747	132169747	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:132169747C>T	ENST00000378539.5	-	5	1773	c.1397G>A	c.(1396-1398)gGa>gAa	p.G466E	PLXNA4_ENST00000359827.3_Intron|PLXNA4_ENST00000321063.4_Intron|PLXNA4_ENST00000423507.2_Intron	NM_181775.3	NP_861440.2	Q9HCM2	PLXA4_HUMAN	plexin A4	466	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTGGGTGATTCCCCCTTGTGG	0.443000													6	32					0	0	0.003080	0	0
EPB41L2	2037	broad.mit.edu	37	6	131199319	131199319	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:131199319C>T	ENST00000337057.3	-	14	2149	c.1968G>A	c.(1966-1968)atG>atA	p.M656I	EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.M34I|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.M656I|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000530757.1_Missense_Mutation_p.M55I|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000392427.3_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	656	Spectrin--actin-binding.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GTGTGGATTCCATAAAATTGC	0.468000													4	20					0	0	0.000248	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643895	37643895	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:37643895G>A	ENST00000356958.4	-	5	1164	c.906C>T	c.(904-906)aaC>aaT	p.N302N	ZNF585A_ENST00000392157.2_Silent_p.N247N|ZNF585A_ENST00000355533.2_Silent_p.N247N|ZNF585A_ENST00000292841.5_Silent_p.N247N|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTTGCCACAGTTACTGCACT	0.428000													7	114					0	0	0.003080	0	0
OR2G6	391211	broad.mit.edu	37	1	248685183	248685183	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:248685183C>T	ENST00000343414.4	+	1	268	c.236C>T	c.(235-237)cCa>cTa	p.P79L		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGTGTTGCCCCACAGTTGCTG	0.507000													5	35					0	0	0.000602	0	0
GMIP	51291	broad.mit.edu	37	19	19745511	19745511	+	Splice_Site	SNP	A	A	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:19745511A>C	ENST00000203556.4	-	18	2026	c.1887_splice	c.e18-1	p.L630_splice	GMIP_ENST00000445806.2_Splice_Site_p.L601_splice|GMIP_ENST00000586269.1_Intron|GMIP_ENST00000587238.1_Splice_Site_p.L604_splice	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	630	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GGGCTCGGTGAGCTGGGGGTG	0.657000													6	71					0	0	0.003080	0	0
TEP1	7011	broad.mit.edu	37	14	20876479	20876479	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:20876479G>A	ENST00000262715.5	-	2	160	c.120C>T	c.(118-120)acC>acT	p.T40T	TEP1_ENST00000556935.1_Silent_p.T40T	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	40					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TATCTGAGTGGGTAGATACAT	0.517000													5	60					0	0	0.000602	0	0
GCNT3	9245	broad.mit.edu	37	15	59910665	59910665	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:59910665G>A	ENST00000396065.1	+	3	676	c.228G>A	c.(226-228)ggG>ggA	p.G76G	GCNT3_ENST00000560585.1_Silent_p.G76G	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	76					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCACCCGAGGGGACCAAGAGG	0.488000													9	74					0	0	0.004482	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33623094	33623094	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:33623094G>A	ENST00000252015.2	-	8	972	c.883C>T	c.(883-885)Cct>Tct	p.P295S	TRPC4AP_ENST00000451813.1_Missense_Mutation_p.P295S|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.P256S|TRPC4AP_ENST00000539834.1_5'UTR			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	295	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			ACAAAGCCAGGAATGCTGAGA	0.498000													6	35					0	0	0.001984	0	0
ADAM29	11086	broad.mit.edu	37	4	175898378	175898378	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:175898378C>T	ENST00000359240.3	+	5	2372	c.1702C>T	c.(1702-1704)Cat>Tat	p.H568Y	ADAM29_ENST00000514159.1_Missense_Mutation_p.H568Y|ADAM29_ENST00000445694.1_Missense_Mutation_p.H568Y|ADAM29_ENST00000404450.4_Missense_Mutation_p.H568Y	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	568	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TATGAGTGATCATACTACTGT	0.393000													5	47					0	0	0.001168	0	0
C10orf12	26148	broad.mit.edu	37	10	98744039	98744039	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:98744039T>G	ENST00000286067.2	+	1	2999	c.2892T>G	c.(2890-2892)agT>agG	p.S964R		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	964										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AAGATGGCAGTGATGTCAGCC	0.493000													9	65					0	0	0.004482	0	0
SYCP2L	221711	broad.mit.edu	37	6	10926589	10926589	+	Silent	SNP	G	G	A	rs147164289		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:10926589G>A	ENST00000283141.6	+	16	1532	c.1236G>A	c.(1234-1236)acG>acA	p.T412T	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_Silent_p.T253T	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	412						nucleus		p.T412T(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CTGACCAGACGAAAATCTCCT	0.348000													12	112					0	0	0.002450	0	0
OVCH1	341350	broad.mit.edu	37	12	29649584	29649584	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:29649584C>T	ENST00000318184.5	-	2	87	c.88G>A	c.(88-90)Gtc>Atc	p.V30I		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	30					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTCATGTTGACCATGCGAATT	0.438000													6	66					0	0	0.004482	0	0
FDPS	2224	broad.mit.edu	37	1	155279906	155279906	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:155279906C>T	ENST00000356657.6	+	3	411	c.249C>T	c.(247-249)ttC>ttT	p.F83F	FDPS_ENST00000368356.4_Silent_p.F83F|RP11-21N7.2_ENST00000429648.1_RNA|FDPS_ENST00000447866.1_Silent_p.F17F|FDPS_ENST00000487002.1_3'UTR	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	83					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	AGCAGGATTTCGTTCAGCACT	0.488000													4	27					0	0	0.000602	0	0
OR4L1	122742	broad.mit.edu	37	14	20528284	20528284	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:20528284C>T	ENST00000315683.1	+	1	81	c.81C>T	c.(79-81)ttC>ttT	p.F27F		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F27L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAATTTTCTTCTTTGTGACAT	0.383000													5	55					0	0	0.000602	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24515416	24515416	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:24515416C>T	ENST00000357578.3	+	5	893	c.748C>T	c.(748-750)Cct>Tct	p.P250S	ALDH5A1_ENST00000348925.2_Missense_Mutation_p.P263S|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.P162S|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.P222S	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	250					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	GGCTGGGATTCCTTCAGGTGT	0.368000													6	74					0	0	0.003080	0	0
SRSF7	6432	broad.mit.edu	37	2	38976774	38976774	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:38976774G>A	ENST00000313117.6	-	3	520	c.283C>T	c.(283-285)Cct>Tct	p.P95S	SRSF7_ENST00000446327.2_Missense_Mutation_p.P95S|SRSF7_ENST00000409276.1_Missense_Mutation_p.P95S	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	95					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CGTCGGGCAGGTGGTCTATCA	0.453000													5	45					0	0	0.000602	0	0
ALS2CR12	130540	broad.mit.edu	37	2	202208901	202208901	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:202208901G>A	ENST00000405148.2	-	6	897	c.454C>T	c.(454-456)Cag>Tag	p.Q152*	ALS2CR12_ENST00000448967.1_5'UTR|ALS2CR12_ENST00000392257.3_Nonsense_Mutation_p.Q152*|ALS2CR12_ENST00000286190.5_Nonsense_Mutation_p.Q152*|ALS2CR12_ENST00000439709.1_Nonsense_Mutation_p.Q152*	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	152					regulation of GTPase activity		protein binding	p.Q152K(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						ACCAATTTCTGGGCAGACTGG	0.388000													6	52					0	0	0.001984	0	0
LRTM1	57408	broad.mit.edu	37	3	54952872	54952872	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:54952872C>T	ENST00000273286.5	-	3	814	c.652G>A	c.(652-654)Gga>Aga	p.G218R	CACNA2D3_ENST00000288197.5_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.G142R|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000415676.2_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	218	LRRCT.					integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AGGTCCTTTCCCTTCCAGGTG	0.517000													4	22					0	0	0.000248	0	0
KIAA0100	9703	broad.mit.edu	37	17	26943653	26943653	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:26943653G>A	ENST00000528896.2	-	35	6214	c.6140C>T	c.(6139-6141)tCc>tTc	p.S2047F	KIAA0100_ENST00000544884.1_Missense_Mutation_p.S1904F|SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.S1904F	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2047						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CACCAGTTTGGACTTATCCTC	0.478000													7	57					0	0	0.003080	0	0
EPHA6	285220	broad.mit.edu	37	3	97251245	97251245	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:97251245G>A	ENST00000389672.5	+	11	2282	c.2244G>A	c.(2242-2244)ggG>ggA	p.G748G	EPHA6_ENST00000514100.1_Silent_p.G140G|EPHA6_ENST00000502694.1_Silent_p.G140G|EPHA6_ENST00000442602.2_Silent_p.G114G	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	653	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AGACACCAGGGAAAAGAGAGA	0.398000													6	30					0	0	0.000443	0	0
KCNB1	3745	broad.mit.edu	37	20	47990562	47990562	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:47990562G>A	ENST00000371741.4	-	2	1701	c.1535C>T	c.(1534-1536)cCt>cTt	p.P512L		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	512					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGCTTTTTCAGGGGATCCCTG	0.463000													11	117					0	0	0.000978	0	0
STAU1	6780	broad.mit.edu	37	20	47770587	47770587	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:47770587T>C	ENST00000371856.2	-	4	637	c.227A>G	c.(226-228)gAa>gGa	p.E76G	STAU1_ENST00000340954.7_5'UTR|STAU1_ENST00000371792.1_5'UTR|STAU1_ENST00000360426.4_5'UTR|STAU1_ENST00000371828.3_5'UTR|STAU1_ENST00000371802.1_5'UTR|STAU1_ENST00000347458.5_5'UTR	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	76	DRBM 1.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TGCATTTAGTTCTACAGTAGG	0.373000													7	64					0	0	0.004482	0	0
OR5K4	403278	broad.mit.edu	37	3	98072976	98072976	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:98072976C>T	ENST00000354924.2	+	1	279	c.279C>T	c.(277-279)tcC>tcT	p.S93S	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GAATTATTTCCCTGTATGAAT	0.433000													7	123					0	0	0.003080	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105360908	105360908	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:105360908C>T	ENST00000297581.2	+	2	177	c.128C>T	c.(127-129)tCa>tTa	p.S43L	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.S43L|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	43					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											GCTCTTATTTCAGTGGGCCTC	0.512000													6	49					0	0	0.001984	0	0
COASY	80347	broad.mit.edu	37	17	40714961	40714961	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:40714961C>T	ENST00000393818.2	+	1	777	c.321C>T	c.(319-321)ctC>ctT	p.L107L	COASY_ENST00000421097.2_Silent_p.L107L|COASY_ENST00000449624.1_5'UTR|COASY_ENST00000420359.1_Silent_p.L107L|COASY_ENST00000590958.1_Silent_p.L136L	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	107					coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		TCCAGAATCTCGCCCACCCGC	0.572000													6	86					0	0	0.001168	0	0
MACF1	23499	broad.mit.edu	37	1	39951278	39951278	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:39951278C>T	ENST00000564288.1	+	101	23257	c.22480C>T	c.(22480-22482)Cgg>Tgg	p.R7494W	MACF1_ENST00000289893.4_Missense_Mutation_p.R5877W|MACF1_ENST00000545844.1_Missense_Mutation_p.R5369W|MACF1_ENST00000317713.7_Missense_Mutation_p.R5369W|MACF1_ENST00000372915.3_Missense_Mutation_p.R7327W|MACF1_ENST00000567887.1_Missense_Mutation_p.R7531W|MACF1_ENST00000361689.2_Missense_Mutation_p.R5369W|MACF1_ENST00000539005.1_Missense_Mutation_p.R5239W			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7327					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			agcCAGCAGCCGGCGAGGAAG	0.562000													4	28					0	0	0.000248	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52004703	52004703	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:52004703G>A	ENST00000291707.3	-	1	340	c.285C>T	c.(283-285)ctC>ctT	p.L95L		NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	95	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGTCCCCAAGGAGGTGGAATC	0.542000													10	76					0	0	0.000978	0	0
KLC4	89953	broad.mit.edu	37	6	43034129	43034129	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:43034129C>T	ENST00000394056.2	+	6	1152	c.657C>T	c.(655-657)atC>atT	p.I219I	KLC4_ENST00000347162.5_Silent_p.I219I|KLC4_ENST00000259708.3_Silent_p.I237I|KLC4_ENST00000479388.1_Silent_p.I219I|KLC4_ENST00000458460.2_Silent_p.I219I|KLC4_ENST00000453940.2_Silent_p.I142I|KLC4_ENST00000394058.1_Silent_p.I219I			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	219						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			ACCTGGTGATCCAGTACGCAG	0.587000													5	36					0	0	0.000602	0	0
PCNP	57092	broad.mit.edu	37	3	101298703	101298703	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:101298703C>T	ENST00000265260.3	+	2	255	c.134C>T	c.(133-135)tCc>tTc	p.S45F	PCNP_ENST00000486406.1_Intron|PCNP_ENST00000296024.5_Missense_Mutation_p.S45F|PCNP_ENST00000469941.1_Intron	NM_020357.1	NP_065090.1	Q8WW12	PCNP_HUMAN	PEST proteolytic signal containing nuclear protein	45					cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding			large_intestine(1)|lung(1)	2						GGGGAAAGTTCCAGTCGCAGC	0.463000													5	34					0	0	0.001168	0	0
UNC5D	137970	broad.mit.edu	37	8	35579780	35579780	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:35579780C>T	ENST00000287272.2	+	8	1022	c.1002C>T	c.(1000-1002)gtC>gtT	p.V334V	UNC5D_ENST00000404895.2_Silent_p.V390V|UNC5D_ENST00000416672.1_Silent_p.V395V|UNC5D_ENST00000453357.2_Silent_p.V385V|UNC5D_ENST00000420357.1_Silent_p.V323V			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	390	TSP type-1 2.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GTGCTGCCGTCGTGGCCGTTG	0.527000													7	102					0	0	0.003080	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092698	151092698	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:151092698G>A	ENST00000370335.1	+	3	829	c.562G>A	c.(562-564)Gat>Aat	p.D188N	MAGEA4_ENST00000393920.1_Missense_Mutation_p.D188N|MAGEA4_ENST00000370337.4_Missense_Mutation_p.D188N|MAGEA4_ENST00000370340.3_Missense_Mutation_p.D188N|MAGEA4_ENST00000393921.1_Missense_Mutation_p.D188N|MAGEA4_ENST00000360243.2_Missense_Mutation_p.D188N|MAGEA4_ENST00000276344.2_Missense_Mutation_p.D188N			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	188	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTTCCTATGATGGCCTGCT	0.547000													7	78					0	0	0.003080	0	0
PPP2R5C	5527	broad.mit.edu	37	14	102368098	102368098	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:102368098C>T	ENST00000422945.2	+	11	1084	c.988C>T	c.(988-990)Cca>Tca	p.P330S	PPP2R5C_ENST00000445439.3_Missense_Mutation_p.P299S|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.P299S|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.P299S|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.P299S|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.P354S	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	299					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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GACTCACAGTCCAAAAGAAGT	0.448000													8	51					0	0	0.004482	0	0
CD163	9332	broad.mit.edu	37	12	7651494	7651494	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:7651494G>A	ENST00000359156.4	-	4	950	c.748C>T	c.(748-750)Cat>Tat	p.H250Y	CD163_ENST00000396620.3_Missense_Mutation_p.H250Y|CD163_ENST00000432237.2_Missense_Mutation_p.H250Y|CD163_ENST00000541972.1_Missense_Mutation_p.H238Y	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	250	SRCR 2.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TCCTCAGCATGATCACAGTTA	0.433000													8	96					0	0	0.000443	0	0
CFH	3075	broad.mit.edu	37	1	196697622	196697622	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:196697622G>A	ENST00000367429.4	+	15	2623	c.2383G>A	c.(2383-2385)Gga>Aga	p.G795R		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	795	Sushi 13.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTGCATAAATGGAAGATGGGA	0.338000													4	21					0	0	0.000602	0	0
CD163	9332	broad.mit.edu	37	12	7637852	7637852	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:7637852C>T	ENST00000359156.4	-	11	2821	c.2619G>A	c.(2617-2619)ggG>ggA	p.G873G	CD163_ENST00000396620.3_Silent_p.G906G|CD163_ENST00000432237.2_Silent_p.G873G|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000541972.1_Silent_p.G861G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	873	SRCR 8.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GGTTGATTTTCCCTTTGTCTG	0.512000													4	42					0	0	0.000248	0	0
MRPS2	51116	broad.mit.edu	37	9	138395412	138395412	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:138395412G>A	ENST00000371785.1	+	5	533	c.324G>A	c.(322-324)ggG>ggA	p.G108G	RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000241600.5_Silent_p.G108G|MRPS2_ENST00000488610.1_3'UTR			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	108					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		ACATCTTTGGGAGCCGCCTGG	0.602000													5	31					0	0	0.000602	0	0
ABCC8	6833	broad.mit.edu	37	11	17414606	17414606	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:17414606C>T	ENST00000302539.4	-	39	4806	c.4681G>A	c.(4681-4683)Gat>Aat	p.D1561N	ABCC8_ENST00000389817.3_Missense_Mutation_p.D1560N	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1560	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TCTGGCTTATCGAACTCAAGG	0.612000													8	175					0	0	0.004482	0	0
C10orf12	26148	broad.mit.edu	37	10	98743944	98743944	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:98743944C>T	ENST00000286067.2	+	1	2904	c.2797C>T	c.(2797-2799)Cct>Tct	p.P933S		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	933										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAAGAAATTTCCTGGAGCTAC	0.473000													7	51					0	0	0.004482	0	0
ATRX	546	broad.mit.edu	37	X	76938476	76938476	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:76938476G>A	ENST00000373344.5	-	9	2486	c.2272C>T	c.(2272-2274)Cat>Tat	p.H758Y	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.H720Y	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	758					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TGGTTTGTATGAATTTCATTA	0.358000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						14	153					0	0	0.001855	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673373	141673373	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:141673373C>T	ENST00000547270.1	-	1	200	c.117G>A	c.(115-117)gtG>gtA	p.V39V		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	39					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CCCAAAAATTCACCAAGAAAA	0.493000													7	27					0	0	0.001984	0	0
FAT4	79633	broad.mit.edu	37	4	126411353	126411353	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:126411353G>A	ENST00000394329.3	+	17	13389	c.13376G>A	c.(13375-13377)gGa>gAa	p.G4459E	FAT4_ENST00000335110.5_Missense_Mutation_p.G2700E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4459	EGF-like 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCGCACACGGGAAGGACCTGT	0.627000													6	51					0	0	0.001984	0	0
BTBD7	55727	broad.mit.edu	37	14	93709119	93709119	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:93709119G>A	ENST00000334746.5	-	11	3206	c.2899C>T	c.(2899-2901)Cct>Tct	p.P967S	BTBD7_ENST00000554565.1_Missense_Mutation_p.P616S|BTBD7_ENST00000393170.2_Missense_Mutation_p.P541S	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	967										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CCTTGCGAAGGGGAAGGGGTG	0.493000													6	65					0	0	0.001984	0	0
LGR5	8549	broad.mit.edu	37	12	71977807	71977807	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:71977807G>A	ENST00000266674.5	+	18	2328	c.2017G>A	c.(2017-2019)Gaa>Aaa	p.E673K	LGR5_ENST00000540815.2_Missense_Mutation_p.E649K|LGR5_ENST00000536515.1_Missense_Mutation_p.E601K			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	673						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TGCAAAATTTGAAACGAAAGC	0.468000													12	247					0	0	0.001855	0	0
BRAT1	221927	broad.mit.edu	37	7	2577997	2577997	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:2577997G>A	ENST00000340611.4	-	14	2428	c.2172C>T	c.(2170-2172)ctC>ctT	p.L724L		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	724					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						CCCTCAGGAAGAGAAGGAGGT	0.637000													10	38					0	0	0.000978	0	0
AMACR	23600	broad.mit.edu	37	5	34005978	34005978	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:34005978G>A	ENST00000335606.6	-	2	362	c.274C>T	c.(274-276)Cca>Tca	p.P92S	AMACR_ENST00000382072.2_Missense_Mutation_p.P92S|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000502637.1_Missense_Mutation_p.P92S|AMACR_ENST00000441713.2_Missense_Mutation_p.P92S|AMACR_ENST00000382085.3_Missense_Mutation_p.P92S	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	92					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						AGAATCTCTGGGCCCAGCTGG	0.468000													4	47					0	0	0.000248	0	0
DPY19L2	283417	broad.mit.edu	37	12	64061910	64061910	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:64061910G>A	ENST00000324472.4	-	1	447	c.264C>T	c.(262-264)tcC>tcT	p.S88S	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	88					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GCTGCGCCAGGGAATTACGGA	0.612000													4	40					0	0	0.000602	0	0
TSPAN5	10098	broad.mit.edu	37	4	99407933	99407933	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:99407933C>T	ENST00000305798.3	-	3	637	c.235G>A	c.(235-237)Ggg>Agg	p.G79R	TSPAN5_ENST00000509168.1_5'UTR|TSPAN5_ENST00000505184.1_Missense_Mutation_p.G8R	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	79						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		CCAATGCACCCTGCAAATCCC	0.473000													4	43					0	0	0.000248	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688813	26688813	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr22:26688813C>G	ENST00000529632.2	+	2	732	c.536C>G	c.(535-537)gCa>gGa	p.A179G	SEZ6L_ENST00000248933.6_Missense_Mutation_p.A179G|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000343706.4_Missense_Mutation_p.A179G|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.A179G|SEZ6L_ENST00000404234.3_Missense_Mutation_p.A179G	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	179						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TCCGAGGAGGCATCAGAAGTG	0.662000													3	21					0	0	0.004672	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811554	5811554	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:5811554C>T	ENST00000381095.3	-	6	2382	c.1755G>A	c.(1753-1755)acG>acA	p.T585T	NLGN4X_ENST00000381093.2_Silent_p.T605T|NLGN4X_ENST00000538097.1_Silent_p.T585T|NLGN4X_ENST00000381092.1_Silent_p.T585T|NLGN4X_ENST00000275857.6_Silent_p.T585T	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	585					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.T585T(2)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AAGCCACTTTCGTTGCCCGGT	0.463000													8	90					0	0	0.004482	0	0
DAGLA	747	broad.mit.edu	37	11	61511332	61511332	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:61511332C>T	ENST00000257215.5	+	20	2616	c.2500C>T	c.(2500-2502)Ctg>Ttg	p.L834L		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	834					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		AAACCCATCCCTGAGCTCGCG	0.677000													8	88					0	0	0.004482	0	0
HK2	3099	broad.mit.edu	37	2	75104402	75104402	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:75104402C>T	ENST00000290573.2	+	8	1585	c.985C>T	c.(985-987)Ctc>Ttc	p.L329F	HK2_ENST00000409174.1_Missense_Mutation_p.L301F	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	329	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CCCAGAGCTTCTCAACACCGG	0.557000													10	89					0	0	0.000978	0	0
PBRM1	55193	broad.mit.edu	37	3	52651513	52651513	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:52651513T>C	ENST00000356770.4	-	13	1489	c.1487A>G	c.(1486-1488)aAt>aGt	p.N496S	PBRM1_ENST00000410007.1_Missense_Mutation_p.N528S|PBRM1_ENST00000409114.3_Missense_Mutation_p.N543S|PBRM1_ENST00000409057.1_Missense_Mutation_p.N528S|PBRM1_ENST00000394830.3_Missense_Mutation_p.N528S|PBRM1_ENST00000296302.7_Missense_Mutation_p.N528S|PBRM1_ENST00000337303.4_Missense_Mutation_p.N528S|PBRM1_ENST00000409767.1_Missense_Mutation_p.N543S			Q86U86	PB1_HUMAN	polybromo 1	528					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.N528fs*41(2)|p.N496fs*41(1)|p.N528I(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AAGAACAACATTGAATAAGAT	0.348000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								7	40					0	0	0.001984	0	0
MME	4311	broad.mit.edu	37	3	154801990	154801990	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:154801990G>A	ENST00000460393.1	+	2	154	c.34G>A	c.(34-36)Gat>Aat	p.D12N	MME_ENST00000492661.1_Missense_Mutation_p.D12N|MME_ENST00000462745.1_Missense_Mutation_p.D12N|MME_ENST00000382989.3_Missense_Mutation_p.D12N|MME_ENST00000493237.1_Missense_Mutation_p.D12N|MME_ENST00000360490.2_Missense_Mutation_p.D12N	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	12					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GGATATAACTGATATCAACAC	0.383000													7	71					0	0	0.004482	0	0
C2	717	broad.mit.edu	37	6	31912779	31912779	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:31912779C>T	ENST00000299367.5	+	17	2328	c.2052C>T	c.(2050-2052)ttC>ttT	p.F684F	CFB_ENST00000556679.1_Intron|C2_ENST00000468407.1_3'UTR|CFB_ENST00000456570.1_Intron|C2_ENST00000452323.2_Silent_p.F470F|C2_ENST00000469372.1_Silent_p.F438F|C2_ENST00000442278.2_Silent_p.F552F|CFB_ENST00000477310.1_Intron	NM_000063.4	NP_000054.2			complement component 2											haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GAGCAGTTTTCCTTGAGCGGA	0.552000													19	189					0	0	0.001216	0	0
TTN	7273	broad.mit.edu	37	2	179435851	179435851	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179435851G>A	ENST00000589042.1	-	326	75232	c.75008C>T	c.(75007-75009)gCt>gTt	p.A25003V	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A23362V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A22435V|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A16130V|TTN_ENST00000460472.2_Missense_Mutation_p.A15938V|TTN_ENST00000359218.5_Missense_Mutation_p.A16063V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23362	Ig-like 123.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGGTCACGAGCCACATAACA	0.478000													6	41					0	0	0.001168	0	0
BPHL	670	broad.mit.edu	37	6	3140660	3140660	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:3140660C>T	ENST00000380375.3	+	7	1298	c.654C>T	c.(652-654)ccC>ccT	p.P218P	BPHL_ENST00000380368.2_3'UTR|BPHL_ENST00000380379.5_Silent_p.P235P|BPHL_ENST00000434640.1_Silent_p.P218P|RP1-40E16.11_ENST00000447644.1_RNA			Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	235					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TCCAGTGCCCCGCCTTGATTG	0.567000													5	78					0	0	0.000602	0	0
MYH13	8735	broad.mit.edu	37	17	10210258	10210258	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:10210258C>T	ENST00000418404.3	-	35	5456	c.5293G>A	c.(5293-5295)Gat>Aat	p.D1765N	MYH13_ENST00000252172.4_Missense_Mutation_p.D1765N|MYH13_ENST00000570743.1_Missense_Mutation_p.D1765N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1765					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GAGCTCACATCCGTGATGGCC	0.517000													7	44					0	0	0.001984	0	0
CACNA1I	8911	broad.mit.edu	37	22	39966859	39966859	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr22:39966859C>T	ENST00000336649.4	+	1	102	c.102C>T	c.(100-102)tcC>tcT	p.S34S	CACNA1I_ENST00000404898.1_Silent_p.S34S|CACNA1I_ENST00000401624.1_Silent_p.S34S|CACNA1I_ENST00000400164.3_Silent_p.S34S|CACNA1I_ENST00000402142.3_Silent_p.S34S|CACNA1I_ENST00000407673.1_Silent_p.S34S			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	34					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCCCATCCTCCCCGCCAGGCC	0.687000													5	21					0	0	0.001168	0	0
AMPD2	271	broad.mit.edu	37	1	110171047	110171047	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:110171047C>T	ENST00000256578.3	+	11	1859	c.1499C>T	c.(1498-1500)tCc>tTc	p.S500F	AMPD2_ENST00000528454.1_Missense_Mutation_p.S382F|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000342115.4_Missense_Mutation_p.S419F|AMPD2_ENST00000528667.1_Missense_Mutation_p.S500F|AMPD2_ENST00000393688.3_Missense_Mutation_p.S381F|AMPD2_ENST00000358729.4_Missense_Mutation_p.S425F|AMPD2_ENST00000526301.1_3'UTR	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	500					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		ATTGGGGAGTCCGTCCTCCGA	0.522000													7	49					0	0	0.001984	0	0
ANK3	288	broad.mit.edu	37	10	61834915	61834915	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:61834915C>T	ENST00000280772.1	-	37	5915	c.5724G>A	c.(5722-5724)atG>atA	p.M1908I	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1908					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGTCCTCTTTCATTTCAGCTA	0.443000													5	35					0	0	0.000602	0	0
SPAG17	200162	broad.mit.edu	37	1	118629342	118629342	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:118629342G>A	ENST00000336338.5	-	12	1628	c.1563C>T	c.(1561-1563)ctC>ctT	p.L521L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	521						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGTTCAGTAGGAGGGGGCCTT	0.388000													4	45					0	0	0.000602	0	0
FAM126B	285172	broad.mit.edu	37	2	201876142	201876142	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:201876142G>A	ENST00000418596.2	-	6	574	c.387C>T	c.(385-387)tcC>tcT	p.S129S		NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	129						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GCTTGGATAAGGAGGGGATAG	0.299000													5	35					0	0	0.003080	0	0
CFTR	1080	broad.mit.edu	37	7	117199643	117199643	+	Silent	SNP	C	C	T	rs1800092		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:117199643C>T	ENST00000003084.6	+	11	1650	c.1518C>T	c.(1516-1518)atC>atT	p.I506I	CFTR_ENST00000454343.1_Silent_p.I445I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	506	ABC transporter 1.		I -> M (in dbSNP:rs1800092).|I -> V.		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AAGAAAATATCATCTTTGGTG	0.368000									Cystic Fibrosis				5	47					0	0	0.001984	0	0
HTR1E	3354	broad.mit.edu	37	6	87725541	87725541	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:87725541C>T	ENST00000305344.4	+	2	1192	c.489C>T	c.(487-489)caC>caT	p.H163H	HTR1E_ENST00000369584.1_Silent_p.H163H	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	163					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GGAGAAGCCACCGCCGCCTAA	0.562000													5	38					0	0	0.001168	0	0
C6orf211	79624	broad.mit.edu	37	6	151789731	151789731	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:151789731C>T	ENST00000367294.3	+	5	1071	c.812C>T	c.(811-813)tCc>tTc	p.S271F	C6orf211_ENST00000545879.1_Missense_Mutation_p.S152F	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	271							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TTCTTGTTGTCCTCTGAACTG	0.328000													10	113					0	0	0.000443	0	0
TTN	7273	broad.mit.edu	37	2	179398792	179398792	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179398792C>T	ENST00000589042.1	-	358	102774	c.102550G>A	c.(102550-102552)Gaa>Aaa	p.E34184K	TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E32543K|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31616K|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25311K|TTN_ENST00000460472.2_Missense_Mutation_p.E25119K|TTN_ENST00000359218.5_Missense_Mutation_p.E25244K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32543	Ser-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E25311K(1)|p.E31614K(1)|p.E25119K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGTGATTTCGTATTTCTCA	0.403000													5	41					0	0	0.001168	0	0
ANK3	288	broad.mit.edu	37	10	61831386	61831386	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:61831386C>T	ENST00000280772.1	-	37	9444	c.9253G>A	c.(9253-9255)Gga>Aga	p.G3085R	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3085					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTTTCCCTCCCTCTGTCTGG	0.413000													6	62					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179596121	179596121	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179596121C>T	ENST00000589042.1	-	59	17596	c.17372G>A	c.(17371-17373)gGc>gAc	p.G5791D	TTN_ENST00000591111.1_Missense_Mutation_p.G5474D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G4547D|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5474	Ig-like 39.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACTTCAATGCCACTGAGGTA	0.403000													6	85					0	0	0.001168	0	0
SELE	6401	broad.mit.edu	37	1	169701840	169701840	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:169701840C>T	ENST00000333360.7	-	3	476	c.337G>A	c.(337-339)Gag>Aag	p.E113K	SELE_ENST00000367782.4_Missense_Mutation_p.E113K|SELE_ENST00000367775.1_Missense_Mutation_p.E113K|SELE_ENST00000367779.4_Missense_Mutation_p.E113K|SELE_ENST00000367781.4_Missense_Mutation_p.E113K|SELE_ENST00000367776.1_Missense_Mutation_p.E113K|SELE_ENST00000461085.1_5'UTR|SELE_ENST00000367780.4_Missense_Mutation_p.E113K|SELE_ENST00000367774.1_Missense_Mutation_p.E113K|SELE_ENST00000367777.1_Missense_Mutation_p.E113K|C1orf112_ENST00000498289.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	113	C-type lectin.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					ATGTAGATCTCCACGCAGTCC	0.502000													4	18					0	0	0.000248	0	0
KAT6B	23522	broad.mit.edu	37	10	76790634	76790634	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:76790634C>T	ENST00000287239.4	+	18	6541	c.6052C>T	c.(6052-6054)Caa>Taa	p.Q2018*	KAT6B_ENST00000372725.1_Nonsense_Mutation_p.Q1726*|KAT6B_ENST00000372724.1_Nonsense_Mutation_p.Q1726*|KAT6B_ENST00000372711.1_Nonsense_Mutation_p.Q1835*|KAT6B_ENST00000372714.1_Nonsense_Mutation_p.Q1726*	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	2018	Interaction with RUNX1 and RUNX2.|Met-rich.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										TCAAACGCCCCAATACCCTAT	0.532000													5	48					0	0	0.001168	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296599	39296599	+	Silent	SNP	T	T	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:39296599T>C	ENST00000345847.4	-	1	140	c.141A>G	c.(139-141)agA>agG	p.R47R		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	47	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCACTGGGGTCTGCAGCAGC	0.682000													5	43					0	0	0.001984	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869869	151869869	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:151869869G>A	ENST00000329342.5	+	3	784	c.559G>A	c.(559-561)Gat>Aat	p.D187N		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	187	MAGE.						protein binding	p.D187N(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTCCTACGATGGCCTGCT	0.557000													7	74					0	0	0.001984	0	0
SMAD3	4088	broad.mit.edu	37	15	67482832	67482832	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:67482832C>T	ENST00000327367.4	+	9	1546	c.1236C>T	c.(1234-1236)acC>acT	p.T412T	SMAD3_ENST00000540846.2_Silent_p.T307T|SMAD3_ENST00000439724.3_Silent_p.T368T|SMAD3_ENST00000537194.2_Silent_p.T217T	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	412	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		AGGTCCTCACCCAGATGGGCT	0.552000													5	10					0	0	0.000602	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122348837	122348837	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:122348837C>T	ENST00000398248.1	+	3	540	c.188C>T	c.(187-189)tCg>tTg	p.S63L	PPAPDC1A_ENST00000369073.3_Silent_p.I203I|PPAPDC1A_ENST00000439221.1_Silent_p.I150I|PPAPDC1A_ENST00000398250.1_Silent_p.I213I			Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	0					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GTGGAGTCATCGGCCTCATTT	0.468000													8	124					0	0	0.000443	0	0
GFPT1	2673	broad.mit.edu	37	2	69565122	69565122	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:69565122T>C	ENST00000357308.4	-	15	1568	c.1390A>G	c.(1390-1392)Atc>Gtc	p.I464V	GFPT1_ENST00000361060.4_Missense_Mutation_p.I446V	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	464	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GTGTTTGTGATCCCCACAGTT	0.443000													4	48					0	0	0.000248	0	0
CTNND2	1501	broad.mit.edu	37	5	11732292	11732292	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:11732292C>T	ENST00000304623.8	-	2	319	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	CTNND2_ENST00000359640.2_Missense_Mutation_p.E44K|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	44					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTTTCTGTTTCAGAGCCATCC	0.488000													5	37					0	0	0.000602	0	0
FRMPD2	143162	broad.mit.edu	37	10	49420116	49420116	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:49420116A>G	ENST00000374201.3	-	13	1794	c.1492T>C	c.(1492-1494)Tac>Cac	p.Y498H	FRMPD2_ENST00000407470.4_Missense_Mutation_p.Y466H|FRMPD2_ENST00000305531.3_Missense_Mutation_p.Y473H	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	498	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GCTGGGATGTAATCTTCAACG	0.547000													3	22					0	0	0.000602	0	0
NPR3	4883	broad.mit.edu	37	5	32712194	32712194	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:32712194G>A	ENST00000265074.8	+	1	655	c.312G>A	c.(310-312)gaG>gaA	p.E104E	NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415685.2_Intron|NPR3_ENST00000415167.2_Silent_p.E104E	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	104					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TGGCTTACGAGGATTCAGACT	0.687000													4	38					0	0	0.000248	0	0
KIAA1683	80726	broad.mit.edu	37	19	18377467	18377467	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:18377467C>T	ENST00000392413.3	-	3	1098	c.883G>A	c.(883-885)Gag>Aag	p.E295K	KIAA1683_ENST00000600328.2_Missense_Mutation_p.E295K|KIAA1683_ENST00000600359.2_Missense_Mutation_p.E249K	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	295						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AATGGTGTCTCCGGAGCCCTG	0.572000													5	65					0	0	0.000602	0	0
OR2A25	392138	broad.mit.edu	37	7	143771496	143771496	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:143771496C>T	ENST00000408898.2	+	1	222	c.184C>T	c.(184-186)Ctc>Ttc	p.L62F		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GTACTTCTTCCTCTCACACCT	0.577000													4	40					0	0	0.000248	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394292	233394292	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:233394292C>T	ENST00000258229.8	-	5	1550	c.1316G>A	c.(1315-1317)gGg>gAg	p.G439E	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	439						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACCTCCTCCCCCACCCTCAGG	0.562000													4	45					0	0	0.001168	0	0
HARS2	23438	broad.mit.edu	37	5	140076573	140076573	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:140076573C>T	ENST00000230771.3	+	9	1095	c.872C>T	c.(871-873)tCc>tTc	p.S291F	HARS2_ENST00000448069.2_Missense_Mutation_p.S119F|HARS2_ENST00000435019.2_Missense_Mutation_p.S251F|HARS2_ENST00000437649.2_Missense_Mutation_p.S217F|HARS2_ENST00000508522.1_Missense_Mutation_p.S266F|HARS2_ENST00000432671.2_Missense_Mutation_p.S177F	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	291					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAGACTATCCCAGAACAAG	0.428000													11	116					0	0	0.002450	0	0
RMDN2	151393	broad.mit.edu	37	2	38179102	38179102	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:38179102C>T	ENST00000407257.1	+	2	891	c.744C>T	c.(742-744)ttC>ttT	p.F248F	RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Silent_p.F248F|RMDN2_ENST00000234195.3_Silent_p.F248F|RMDN2_ENST00000354545.2_Intron					regulator of microtubule dynamics 2																		TAAAAGATTTCCTTCATCCTC	0.398000													5	31					0	0	0.000602	0	0
ABCD2	225	broad.mit.edu	37	12	39997808	39997808	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:39997808C>T	ENST00000308666.3	-	5	1541	c.1405_splice	c.e5-1	p.G469_splice		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	469					fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AATAACTTTTCCTGTAATTAA	0.313000													4	37					0	0	0.000248	0	0
MUC17	140453	broad.mit.edu	37	7	100699490	100699490	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:100699490A>C	ENST00000306151.4	+	12	13443	c.13379A>C	c.(13378-13380)cAc>cCc	p.H4460P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4460						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GATTCCATCCACCTGGAGTCC	0.493000													3	24					0	0	0.000602	0	0
C9orf3	84909	broad.mit.edu	37	9	97718249	97718249	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:97718249T>G	ENST00000375315.2	+	8	1824	c.1824T>G	c.(1822-1824)ttT>ttG	p.F608L	C9orf3_ENST00000297979.5_Missense_Mutation_p.F509L	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	608					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		ATTTTTCATTTTTAAGAAAAT	0.408000													6	96					0	0	0.001168	0	0
RBBP7	5931	broad.mit.edu	37	X	16870694	16870694	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:16870694G>A	ENST00000380087.2	-	8	1303	c.943C>T	c.(943-945)Cat>Tat	p.H315Y	RBBP7_ENST00000380084.4_Missense_Mutation_p.H359Y|RBBP7_ENST00000404022.1_Missense_Mutation_p.H306Y			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	315					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					TCATCTTTATGAGATTCGAAG	0.358000													7	51					0	0	0.003080	0	0
POTEH	23784	broad.mit.edu	37	22	16287421	16287421	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr22:16287421G>A	ENST00000343518.6	-	1	516	c.465C>T	c.(463-465)ggC>ggT	p.G155G		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	155										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTCCCCAAGGGCCCACTTTGT	0.592000													6	182					0	0	0.003080	0	0
WDR88	126248	broad.mit.edu	37	19	33647373	33647373	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:33647373C>T	ENST00000361680.2	+	7	1000	c.922C>T	c.(922-924)Cga>Tga	p.R308*	WDR88_ENST00000355868.3_Nonsense_Mutation_p.R308*			Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	308										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					AGGGGAGTTTCGAAACTGTGG	0.463000													6	50					0	0	0.001168	0	0
NPAS4	266743	broad.mit.edu	37	11	66192411	66192411	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:66192411C>T	ENST00000311034.2	+	7	2226	c.2050C>T	c.(2050-2052)Ctg>Ttg	p.L684L		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	684					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TGTGCTCAGCCTGGACCTGAA	0.602000													9	67					0	0	0.000443	0	0
CD3E	916	broad.mit.edu	37	11	118184537	118184537	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:118184537G>A	ENST00000361763.4	+	7	759	c.468G>A	c.(466-468)aaG>aaA	p.K156K	CD3E_ENST00000528600.1_Silent_p.K150K	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	156					G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	AGAATAGAAAGGCCAAGGCCA	0.567000													4	20					0	0	0.000248	0	0
HAND2	9464	broad.mit.edu	37	4	174448523	174448523	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:174448523C>T	ENST00000359562.4	-	2	1498	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	HAND2-AS1_ENST00000512099.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	187					adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity	p.E187K(1)		endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TTCAAGATTTCGTTCTGGACA	0.572000													6	78					0	0	0.003080	0	0
PRDX5	25824	broad.mit.edu	37	11	64088219	64088219	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:64088219C>T	ENST00000265462.4	+	3	521	c.393C>T	c.(391-393)gcC>gcT	p.A131A	PRDX5_ENST00000352435.4_Intron|PRDX5_ENST00000347941.4_Intron	NM_012094.4	NP_036226.1	P30044	PRDX5_HUMAN	peroxiredoxin 5	131	Thioredoxin.				cell redox homeostasis|cellular response to reactive oxygen species|inflammatory response|negative regulation of apoptosis	cytosolic part|mitochondrion|peroxisome	caspase inhibitor activity|peroxidase activity|peroxiredoxin activity			breast(1)|kidney(1)|lung(1)|skin(1)	4					Auranofin(DB00995)	TTAATGATGCCTTTGTGACTG	0.592000													5	93					0	0	0.000602	0	0
SPIC	121599	broad.mit.edu	37	12	101880267	101880267	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:101880267G>A	ENST00000551346.1	+	6	624	c.465G>A	c.(463-465)ggG>ggA	p.G155G	SPIC_ENST00000299272.5_Silent_p.G155G			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	155						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						AGCTTTGGGGGAAAAGAAAAG	0.423000													4	33					0	0	0.000248	0	0
FUNDC2	65991	broad.mit.edu	37	X	154282917	154282917	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:154282917C>T	ENST00000369498.3	+	5	794	c.540C>T	c.(538-540)ttC>ttT	p.F180F	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	180						mitochondrion				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGGGATTTTTCGGAGGCTTTC	0.418000													6	65					0	0	0.001168	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433929	72433929	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:72433929G>A	ENST00000373517.3	-	1	755	c.400C>T	c.(400-402)Cat>Tat	p.H134Y	NAP1L2_ENST00000536638.1_5'UTR	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	134					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCAATGTCATGAAATTCCCTC	0.383000													9	65					0	0	0.004482	0	0
GRM8	2918	broad.mit.edu	37	7	126173845	126173845	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:126173845C>T	ENST00000339582.2	-	9	2399	c.1591G>A	c.(1591-1593)Ggg>Agg	p.G531R	GRM8_ENST00000480995.1_Intron|GRM8_ENST00000444921.2_Missense_Mutation_p.G531R|GRM8_ENST00000358373.3_Missense_Mutation_p.G531R			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	531					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CAAGGGACCCCTTTCACCGTT	0.547000										HNSCC(24;0.065)			4	35					0	0	0.000602	0	0
SYNE2	23224	broad.mit.edu	37	14	64655272	64655272	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:64655272C>T	ENST00000357395.3	+	99	18016	c.6872C>T	c.(6871-6873)gCc>gTc	p.A2291V	SYNE2_ENST00000555002.1_Missense_Mutation_p.A2540V|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.A5719V|SYNE2_ENST00000394768.2_Missense_Mutation_p.A2291V|SYNE2_ENST00000358025.3_Missense_Mutation_p.A5906V|SYNE2_ENST00000344113.4_Missense_Mutation_p.A5906V			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5906					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTGCAGGTGGCCATACGTAAA	0.398000													4	41					0	0	0.001984	0	0
ZIM3	114026	broad.mit.edu	37	19	57648291	57648291	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:57648291C>T	ENST00000269834.1	-	4	576	c.191G>A	c.(190-192)gGa>gAa	p.G64E		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	64	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGCTCCTTTCCTTGTTCCAA	0.522000													6	43					0	0	0.001984	0	0
KRT71	112802	broad.mit.edu	37	12	52943921	52943921	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:52943921C>T	ENST00000267119.5	-	2	617	c.548G>A	c.(547-549)gGc>gAc	p.G183D		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	183	Linker 1.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GCTGATGTAGCCCTCGAGGAT	0.597000													5	43					0	0	0.000602	0	0
NPSR1	387129	broad.mit.edu	37	7	34851465	34851465	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:34851465C>T	ENST00000360581.1	+	4	596	c.468C>T	c.(466-468)ttC>ttT	p.F156F	NPSR1_ENST00000381539.3_Silent_p.F156F|NPSR1_ENST00000359791.1_Silent_p.F156F|NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000531252.1_Silent_p.F145F	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	156						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CCATGAAGTTCCTTCAAGGAG	0.443000													6	50					0	0	0.001984	0	0
MYH4	4622	broad.mit.edu	37	17	10357991	10357991	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:10357991C>T	ENST00000255381.2	-	22	2682	c.2572G>A	c.(2572-2574)Gaa>Aaa	p.E858K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	858					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCAAATTCTTCCTTCATGTTG	0.428000													6	77					0	0	0.001984	0	0
APOB	338	broad.mit.edu	37	2	21236264	21236264	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:21236264G>A	ENST00000233242.1	-	25	4111	c.3984C>T	c.(3982-3984)ttC>ttT	p.F1328F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1328					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATGGCAGATGGAATCCCACAG	0.468000													15	146					0	0	0.002450	0	0
GABRA4	2557	broad.mit.edu	37	4	46930735	46930735	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:46930735T>C	ENST00000264318.3	-	9	2154	c.1172A>G	c.(1171-1173)aAt>aGt	p.N391S		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	391					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)	AACCAAAGCATTTGTTCTTTT	0.328000													4	16					0	0	0.000602	0	0
ZNF558	148156	broad.mit.edu	37	19	8931968	8931968	+	Silent	SNP	G	G	A	rs143685735	byFrequency	TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:8931968G>A	ENST00000601372.1	-	7	846	c.135C>T	c.(133-135)ttC>ttT	p.F45F	ZNF558_ENST00000444186.2_5'UTR|ZNF558_ENST00000301475.1_Silent_p.F45F			Q96NG5	ZN558_HUMAN	zinc finger protein 558	45	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CCACATCCTCGAAGGTTACCA	0.587000													5	30					0	0	0.001168	0	0
RP1L1	94137	broad.mit.edu	37	8	10467446	10467446	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:10467446C>T	ENST00000382483.3	-	4	4385	c.4162G>A	c.(4162-4164)Gag>Aag	p.E1388K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1388					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCAAGAGCCTCTCCTTGCAGT	0.532000													18	153					0	0	0.001523	0	0
ADCY8	114	broad.mit.edu	37	8	132051665	132051665	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:132051665G>A	ENST00000286355.5	-	1	3007	c.915C>T	c.(913-915)atC>atT	p.I305I	ADCY8_ENST00000377928.3_Silent_p.I305I	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	305					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)			CCACTTGGAGGATGACCTGCA	0.597000										HNSCC(32;0.087)			6	34					0	0	0.001168	0	0
IKZF2	22807	broad.mit.edu	37	2	214012517	214012517	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:214012517G>A	ENST00000457361.1	-	3	222	c.54C>T	c.(52-54)ccC>ccT	p.P18P	IKZF2_ENST00000374327.4_Silent_p.P18P|IKZF2_ENST00000421754.2_Silent_p.P18P|IKZF2_ENST00000413091.3_Silent_p.P18P|IKZF2_ENST00000374319.4_Silent_p.P18P|IKZF2_ENST00000442445.1_Silent_p.P24P|IKZF2_ENST00000434687.1_Silent_p.P18P|IKZF2_ENST00000451136.2_Silent_p.P18P|IKZF2_ENST00000342002.2_Silent_p.P24P	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GCTCCCTTTCGGGTGAAAGCT	0.398000													5	71					0	0	0.001168	0	0
PRCP	5547	broad.mit.edu	37	11	82560137	82560137	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:82560137G>A	ENST00000313010.3	-	6	1069	c.875C>T	c.(874-876)cCt>cTt	p.P292L	PRCP_ENST00000393399.2_Missense_Mutation_p.P313L|PRCP_ENST00000535099.1_Missense_Mutation_p.P187L	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	292	SKS domain.				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AGAGGCATAAGGATAGTCCAC	0.403000													5	31					0	0	0.000602	0	0
FERMT1	55612	broad.mit.edu	37	20	6065812	6065812	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:6065812C>T	ENST00000217289.4	-	12	2282	c.1494G>A	c.(1492-1494)agG>agA	p.R498R	FERMT1_ENST00000536936.1_Silent_p.R241R|FERMT1_ENST00000478194.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	498	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						ATGCAGAGTTCCTGTTTTTCA	0.483000													5	42					0	0	0.001168	0	0
ESRP1	54845	broad.mit.edu	37	8	95683690	95683690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:95683690C>T	ENST00000433389.2	+	11	1433	c.1243C>T	c.(1243-1245)Cga>Tga	p.R415*	ESRP1_ENST00000358397.5_Nonsense_Mutation_p.R415*|ESRP1_ENST00000423620.2_Nonsense_Mutation_p.R415*|ESRP1_ENST00000454170.2_Nonsense_Mutation_p.R415*	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	415					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GGTGCTGAATCGATTCTCCTC	0.478000													12	111					0	0	0.000978	0	0
PTCHD2	57540	broad.mit.edu	37	1	11585237	11585237	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:11585237C>T	ENST00000294484.6	+	12	2619	c.2481C>T	c.(2479-2481)ttC>ttT	p.F827F	PTCHD2_ENST00000389575.3_Silent_p.F827F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	827					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCGTAGATTTCCCAGGCACCG	0.567000													11	63					0	0	0.002450	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159820141	159820141	+	RNA	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:159820141C>T	ENST00000497452.1	-	0	517																											AGTAGAGCCCCCAGGGCGTTT	0.443000													8	91					0	0	0.000443	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21940145	21940145	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:21940145G>A	ENST00000542643.2	-	10	752	c.450C>T	c.(448-450)ttC>ttT	p.F150F	RAP1GAP_ENST00000374757.3_5'UTR|RAP1GAP_ENST00000290101.4_Silent_p.F214F|RAP1GAP_ENST00000374765.4_Silent_p.F150F|RAP1GAP_ENST00000374761.2_Silent_p.F181F|RAP1GAP_ENST00000374763.2_Silent_p.F150F	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	150					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CAACATTAGGGAACTCGGTGA	0.597000													5	60					0	0	0.001984	0	0
MYO18B	84700	broad.mit.edu	37	22	26239721	26239721	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr22:26239721C>T	ENST00000335473.7	+	18	3478	c.3228C>T	c.(3226-3228)acC>acT	p.T1076T	MYO18B_ENST00000407587.2_Silent_p.T1077T|MYO18B_ENST00000536101.1_Silent_p.T1076T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1076	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCCTGCGGACCTGTGAGCAGC	0.592000													4	37					0	0	0.000602	0	0
GTSF1L	149699	broad.mit.edu	37	20	42354971	42354971	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:42354971G>A	ENST00000373003.1	-	1	667	c.364C>T	c.(364-366)Cct>Tct	p.P122S	GTSF1L_ENST00000373005.2_Missense_Mutation_p.P97S	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	122							metal ion binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACCTTTTGAGGAAAAAAAGTC	0.498000													5	66					0	0	0.000602	0	0
NCF2	4688	broad.mit.edu	37	1	183543712	183543712	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:183543712C>T	ENST00000367535.3	-	4	662	c.411G>A	c.(409-411)tgG>tgA	p.W137*	NCF2_ENST00000367536.1_Nonsense_Mutation_p.W137*|NCF2_ENST00000413720.1_Intron|NCF2_ENST00000418089.1_Intron	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	137			W -> R (in CGD2; dbSNP:rs137854516).		cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						CAGCTTTTTTCCATTCCTCCT	0.433000													7	52					0	0	0.001984	0	0
KIAA1324	57535	broad.mit.edu	37	1	109735454	109735454	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:109735454C>T	ENST00000369939.3	+	14	2088	c.1905C>T	c.(1903-1905)gtC>gtT	p.V635V	KIAA1324_ENST00000529753.1_Silent_p.V548V|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	635					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CTTATGGTGTCCAGGCCTGTG	0.532000													6	112					0	0	0.001984	0	0
OFCC1	266553	broad.mit.edu	37	6	9908750	9908750	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:9908750C>T	ENST00000316020.6	-	5	547		c.e5+1		OFCC1_ENST00000472329.1_Splice_Site					orofacial cleft 1 candidate 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				TTCTAGCTCACCTTCTCTGCT	0.393000													6	60					0	0	0.003080	0	0
NEK2	4751	broad.mit.edu	37	1	211843679	211843679	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:211843679G>A	ENST00000366999.4	-	5	847	c.709C>T	c.(709-711)Cca>Tca	p.P237S	NEK2_ENST00000366998.3_Missense_Mutation_p.P237S|NEK2_ENST00000462283.1_5'UTR|NEK2_ENST00000540251.1_Missense_Mutation_p.P194S	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	237	Protein kinase.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TAACGGTATGGAATTCGCCTG	0.373000													14	96					0	0	0.003163	0	0
OR5B17	219965	broad.mit.edu	37	11	58125706	58125706	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:58125706G>A	ENST00000357377.3	-	1	836	c.837C>T	c.(835-837)atC>atT	p.I279I		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCATGGGGATGATCATAGTGT	0.378000													8	31					0	0	0.004482	0	0
TSPYL5	85453	broad.mit.edu	37	8	98288839	98288839	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:98288839C>T	ENST00000322128.3	-	1	1337	c.1234G>A	c.(1234-1236)Ggg>Agg	p.G412R		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	412					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TGGCTCACCCCAGGCTGAGTA	0.522000													9	76					0	0	0.000443	0	0
MSANTD4	84437	broad.mit.edu	37	11	105880327	105880327	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:105880327C>T	ENST00000301919.4	-	3	2388	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	MSANTD4_ENST00000529805.1_5'UTR	NM_032424.1	NP_115800.1	Q8NCY6	K1826_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	325						nucleus											CGTTCCTTTTCAATCTGCAGC	0.398000													5	44					0	0	0.000602	0	0
MYOCD	93649	broad.mit.edu	37	17	12656636	12656636	+	Silent	SNP	C	C	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:12656636C>A	ENST00000425538.1	+	10	2231	c.2031C>A	c.(2029-2031)ccC>ccA	p.P677P	MYOCD_ENST00000395988.1_Silent_p.P581P|MYOCD_ENST00000343344.4_Silent_p.P677P	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	647					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCTCCTCGCCCATCAGCAGCC	0.562000													5	38					0.000602214	0.00123161	0.000602	1	0
PRPF8	10594	broad.mit.edu	37	17	1577966	1577966	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:1577966G>A	ENST00000572621.1	-	20	3334	c.3069C>T	c.(3067-3069)aaC>aaT	p.N1023N	PRPF8_ENST00000304992.6_Silent_p.N1023N			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1023						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AATTCGTATGGTTCATGTCCT	0.438000													9	95					0	0	0.000673	0	0
SCN5A	6331	broad.mit.edu	37	3	38595873	38595873	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:38595873G>A	ENST00000413689.1	-	27	4903	c.4710C>T	c.(4708-4710)atC>atT	p.I1570I	SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000455624.2_Silent_p.I1569I|SCN5A_ENST00000451551.2_Silent_p.I1516I|SCN5A_ENST00000450102.2_Silent_p.I1516I|SCN5A_ENST00000449557.2_Silent_p.I1516I|SCN5A_ENST00000443581.1_Silent_p.I1569I|SCN5A_ENST00000425664.1_Silent_p.I1552I|SCN5A_ENST00000423572.2_Silent_p.I1569I|SCN5A_ENST00000414099.2_Silent_p.I1552I|SCN5A_ENST00000333535.4_Silent_p.I1570I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1570					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CGCCTGTGAAGATGGCCACAA	0.488000													4	43					0	0	0.000602	0	0
KIAA1804	84451	broad.mit.edu	37	1	233507935	233507935	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:233507935C>T	ENST00000366623.3	+	6	1965	c.1704C>T	c.(1702-1704)ctC>ctT	p.L568L	MLK4_ENST00000366624.3_Intron																							CACGGGGGCTCCTGTGTTGAC	0.527000													4	40					0	0	0.000248	0	0
TRPM6	140803	broad.mit.edu	37	9	77386731	77386731	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:77386731C>T	ENST00000451710.3	-	25	3661	c.3424G>A	c.(3424-3426)Gat>Aat	p.D1142N	TRPM6_ENST00000376864.4_Missense_Mutation_p.D1142N|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.D1137N|TRPM6_ENST00000449912.2_Missense_Mutation_p.D1137N|TRPM6_ENST00000360774.1_Missense_Mutation_p.D1142N			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1142					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTTTTCAGATCCTCCTTACTG	0.383000													5	60					0	0	0.001984	0	0
SPANXC	64663	broad.mit.edu	37	X	140335736	140335736	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:140335736C>T	ENST00000358993.2	-	2	246	c.208G>A	c.(208-210)Gac>Aac	p.D70N		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	70						cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					CGGGCGTGGTCATTCAGCAGT	0.453000													10	180					0	0	0.001368	0	0
FCER1A	2205	broad.mit.edu	37	1	159272649	159272649	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:159272649G>A	ENST00000368115.1	+	3	160	c.61G>A	c.(61-63)Gat>Aat	p.D21N	FCER1A_ENST00000368114.1_Missense_Mutation_p.D21N	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	21						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TGCAGCTCCAGATGGCGTGTT	0.468000													5	48					0	0	0.003080	0	0
FLG	2312	broad.mit.edu	37	1	152287815	152287815	+	Missense_Mutation	SNP	C	C	T	rs147859388	by1000genomes	TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:152287815C>T	ENST00000368799.1	-	2	153	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	40	EF-hand 1.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCGAAATTCCTTTTCCAGA	0.328000									Ichthyosis				5	78					0	0	0.001984	0	0
XKR4	114786	broad.mit.edu	37	8	56436207	56436207	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:56436207C>T	ENST00000327381.5	+	3	1474	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	458						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GCAGGCTATTCATTTACTATT	0.468000													7	57					0	0	0.003080	0	0
SLC51A	200931	broad.mit.edu	37	3	195955025	195955025	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:195955025G>A	ENST00000296327.5	+	5	611	c.402G>A	c.(400-402)atG>atA	p.M134I		NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		TGCTGGTCATGGTGGAAGGCT	0.612000													6	94					0	0	0.000443	0	0
TRIML2	205860	broad.mit.edu	37	4	189012810	189012810	+	Missense_Mutation	SNP	G	G	A	rs141991055	by1000genomes	TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:189012810G>A	ENST00000512729.1	-	7	1255	c.881C>T	c.(880-882)tCg>tTg	p.S294L	TRIML2_ENST00000326754.3_Missense_Mutation_p.S319L	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	294	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CCCCATCACCGACCCCGTGAG	0.572000													8	75					0	0	0.000443	0	0
MCM4	4173	broad.mit.edu	37	8	48878868	48878868	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:48878868C>T	ENST00000262105.2	+	8	1163	c.954C>T	c.(952-954)gaC>gaT	p.D318D	MCM4_ENST00000523944.1_Silent_p.D318D	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	318					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TGGAGATGGACCGCGGCCGCA	0.622000													6	17					0	0	0.001168	0	0
HNF1B	6928	broad.mit.edu	37	17	36091761	36091761	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:36091761C>T	ENST00000225893.4	-	4	1231	c.870G>A	c.(868-870)ttG>ttA	p.L290L	HNF1B_ENST00000560016.1_Silent_p.L290L|HNF1B_ENST00000561193.1_Silent_p.L264L|HNF1B_ENST00000427275.2_Silent_p.L264L	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	290					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CCTCAGTGACCAAGTTGGAGC	0.602000													13	206					0	0	0.001368	0	0
GBP5	115362	broad.mit.edu	37	1	89735113	89735113	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:89735113C>T	ENST00000343435.5	-	3	662	c.126G>A	c.(124-126)gcG>gcA	p.A42A	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Silent_p.A42A	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	42						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GGCCCACAATCGCTACCACAA	0.502000													7	61					0	0	0.003080	0	0
GLI3	2737	broad.mit.edu	37	7	42004786	42004786	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:42004786G>C	ENST00000395925.3	-	15	3969	c.3885C>G	c.(3883-3885)ttC>ttG	p.F1295L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1295					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CCGGCAGGCCGAAATTCAGCT	0.632000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				8	33					0	0	0.004482	0	0
KATNAL2	83473	broad.mit.edu	37	18	44580782	44580782	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr18:44580782C>G	ENST00000245121.5	+	3	283	c.89C>G	c.(88-90)cCg>cGg	p.P30R	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Missense_Mutation_p.P102R	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	102	LisH.					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	p.P30L(1)		central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						AATAATTTACCGCAAAGAAGT	0.388000													9	79					0	0	0.000978	0	0
TANC1	85461	broad.mit.edu	37	2	160027239	160027239	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:160027239C>T	ENST00000263635.6	+	10	1511	c.1274C>T	c.(1273-1275)tCc>tTc	p.S425F	TANC1_ENST00000454300.1_Missense_Mutation_p.S319F	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	425						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GCAATCATTTCCAAGTTGGTG	0.498000													5	47					0	0	0.000602	0	0
UNC5D	137970	broad.mit.edu	37	8	35647876	35647876	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:35647876G>A	ENST00000287272.2	+	16	2470		c.e16-1		UNC5D_ENST00000449677.1_Splice_Site|UNC5D_ENST00000404895.2_Splice_Site|UNC5D_ENST00000416672.1_Splice_Site|UNC5D_ENST00000453357.2_Splice_Site|UNC5D_ENST00000420357.1_Splice_Site			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)						apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCTCCATCTAGGAATTTATCT	0.368000													4	40					0	0	0.001168	0	0
TNR	7143	broad.mit.edu	37	1	175375791	175375791	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:175375791G>A	ENST00000367674.1	-	3	768	c.60C>T	c.(58-60)atC>atT	p.I20I	TNR_ENST00000263525.2_Silent_p.I20I	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	20					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.I20I(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGCCCAGAAGGATCAGGTTGA	0.552000													6	57					0	0	0.001168	0	0
TRBC2	28638	broad.mit.edu	37	7	142499830	142499830	+	RNA	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:142499830G>A	ENST00000466254.1	+	0	447																											CATCCTCTATGAGATCTTGCT	0.572000													6	39					0	0	0.001168	0	0
PREX2	80243	broad.mit.edu	37	8	68984762	68984762	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:68984762C>T	ENST00000288368.4	+	14	1803	c.1526C>T	c.(1525-1527)tCt>tTt	p.S509F	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	509	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACCTACAAATCTGTGGTCATG	0.338000													5	87					0	0	0.001168	0	0
GSDMA	284110	broad.mit.edu	37	17	38133119	38133119	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:38133119C>T	ENST00000301659.4	+	12	1264	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	382					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						AGGGTGTTTTCCCCCTGCAAC	0.562000													5	43					0	0	0.000602	0	0
LIPA	3988	broad.mit.edu	37	10	90983485	90983485	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:90983485G>A	ENST00000336233.5	-	7	1100	c.778C>T	c.(778-780)Ctc>Ttc	p.L260F	LIPA_ENST00000371837.1_Missense_Mutation_p.L204F|LIPA_ENST00000456827.1_Missense_Mutation_p.L260F			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	260					lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		AGAAAACAGAGATTTCCACAG	0.353000													10	73					0	0	0.000673	0	0
RPS19BP1	91582	broad.mit.edu	37	22	39928528	39928528	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr22:39928528G>A	ENST00000334678.3	-	2	169	c.52_splice	c.e2-1	p.A18_splice		NM_194326.2	NP_919307.1	Q86WX3	AROS_HUMAN	ribosomal protein S19 binding protein 1	18						nucleolus|nucleoplasm				endometrium(1)|kidney(1)|large_intestine(1)	3	Melanoma(58;0.04)					GTCCCGGGGGGCTGTAGGGGA	0.652000													4	25					0	0	0.000248	0	0
DEFB115	245929	broad.mit.edu	37	20	29847349	29847349	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:29847349G>A	ENST00000400552.1	+	2	181	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K		NM_001037730.1	NP_001032819.1	Q30KQ5	DB115_HUMAN	defensin, beta 115	61					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			AAAATGTGGGGAAAAACATAT	0.373000													4	10					0	0	0.000248	0	0
CASP4	837	broad.mit.edu	37	11	104825696	104825696	+	Silent	SNP	A	A	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:104825696A>G	ENST00000444739.2	-	2	950	c.40T>C	c.(40-42)Ttg>Ctg	p.L14L	CASP4_ENST00000531333.1_5'UTR|CASP4_ENST00000393150.3_5'UTR	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	14	CARD.				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		AGGGATTCCAACACCTTAAGT	0.383000													6	23					0	0	0.001168	0	0
C7orf10	79783	broad.mit.edu	37	7	40220591	40220591	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:40220591T>G	ENST00000309930.5	+	2	191	c.167T>G	c.(166-168)cTa>cGa	p.L56R	C7orf10_ENST00000401647.2_Missense_Mutation_p.L56R|C7orf10_ENST00000540834.1_Missense_Mutation_p.L49R|C7orf10_ENST00000335693.4_Missense_Mutation_p.L56R	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	56							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						ATTCTGGATCTAACAAGGTTT	0.284000													15	189					0	0	0.004990	0	0
SHROOM2	357	broad.mit.edu	37	X	9863144	9863144	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:9863144C>T	ENST00000380913.3	+	4	1286	c.1196C>T	c.(1195-1197)cCc>cTc	p.P399L		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	399					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AGCTGGCCGCCCTCCAAGGAT	0.672000													3	10					0	0	0.004672	0	0
RAC1	5879	broad.mit.edu	37	7	6426892	6426892	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:6426892C>T	ENST00000348035.4	+	2	298	c.85C>T	c.(85-87)Cct>Tct	p.P29S	RAC1_ENST00000356142.4_Missense_Mutation_p.P29S|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	29					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.P29S(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	CAATGCATTTCCTGGAGAATA	0.353000													11	71					0	0	0.001368	0	0
ERCC6L	54821	broad.mit.edu	37	X	71425190	71425190	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:71425190C>T	ENST00000373657.1	-	3	3660	c.3058G>A	c.(3058-3060)Gaa>Aaa	p.E1020K	ERCC6L_ENST00000334463.3_Missense_Mutation_p.E1143K|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	1143					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					GGATCCTCTTCTGTATACTTG	0.493000													5	46					0	0	0.000602	0	0
OR4M1	441670	broad.mit.edu	37	14	20248731	20248731	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:20248731G>A	ENST00000315957.4	+	1	331	c.250G>A	c.(250-252)Gac>Aac	p.D84N		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AATGCTCATAGACTTCTTTGT	0.443000													8	255					0	0	0.003080	0	0
TRAV26-1	28657	broad.mit.edu	37	14	22592027	22592027	+	RNA	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:22592027C>T	ENST00000390455.3	+	0	321																											TGCAAACCTGCCTTGTAATCA	0.448000													9	23					0	0	0.004482	0	0
SPPL2C	162540	broad.mit.edu	37	17	43922996	43922996	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:43922996G>A	ENST00000329196.5	+	1	741	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	242						integral to membrane	aspartic-type endopeptidase activity										AGCCCAGAAGGAAGATAATGA	0.612000													6	42					0	0	0.001168	0	0
BLID	414899	broad.mit.edu	37	11	121986461	121986461	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:121986461G>A	ENST00000560104.1	-	1	462	c.170C>T	c.(169-171)cCt>cTt	p.P57L		NM_001001786.2	NP_001001786.2	Q8IZY5	BLID_HUMAN	BH3-like motif containing, cell death inducer	57					apoptosis	mitochondrion				NS(1)|large_intestine(4)|lung(6)|pancreas(1)	12		Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101)		AGGCAACATAGGTTCTTTGTT	0.502000											OREG0021435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	53					0	0	0.000602	0	0
MYO9A	4649	broad.mit.edu	37	15	72190477	72190477	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:72190477G>A	ENST00000356056.5	-	25	4839	c.4367C>T	c.(4366-4368)aCt>aTt	p.T1456I	MYO9A_ENST00000564571.1_Missense_Mutation_p.T1456I|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.T1456I|MYO9A_ENST00000444904.1_Missense_Mutation_p.T1437I|MYO9A_ENST00000566885.1_Missense_Mutation_p.T1076I	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1456	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GATATCCAAAGTAAGAGCTTC	0.403000													8	30					0	0	0.003080	0	0
AFF2	2334	broad.mit.edu	37	X	148038102	148038102	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:148038102G>A	ENST00000370460.2	+	11	3006	c.2527G>A	c.(2527-2529)Gct>Act	p.A843T	AFF2_ENST00000286437.5_Missense_Mutation_p.A484T|AFF2_ENST00000342251.3_Missense_Mutation_p.A810T|AFF2_ENST00000370457.5_Missense_Mutation_p.A810T	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	843					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGTCACAGCTGTGGAGAA	0.532000													5	32					0	0	0.000602	0	0
ZNF558	148156	broad.mit.edu	37	19	8922407	8922407	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:8922407G>A	ENST00000601372.1	-	10	1470	c.759C>T	c.(757-759)agC>agT	p.S253S	ZNF558_ENST00000444186.2_Silent_p.S182S|ZNF558_ENST00000301475.1_Silent_p.S253S			Q96NG5	ZN558_HUMAN	zinc finger protein 558	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TCCTCTTGTGGCTTTTGAGGT	0.443000													6	41					0	0	0.001984	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672650	141672650	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:141672650C>T	ENST00000547270.1	-	1	923	c.840G>A	c.(838-840)atG>atA	p.M280I		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	280					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CAACACAAACCATCACCCCTA	0.498000													5	30					0	0	0.001168	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106117028	106117028	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:106117028C>T	ENST00000357242.5	+	21	3370	c.3196C>T	c.(3196-3198)Cct>Tct	p.P1066S	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.P1060S	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	1066						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GGAGAAAGATCCTTGTTCCTT	0.458000													9	66					0	0	0.000443	0	0
TRIM29	23650	broad.mit.edu	37	11	120008350	120008350	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:120008350G>A	ENST00000341846.5	-	1	811	c.390C>T	c.(388-390)tcC>tcT	p.S130S		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	130					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CCGAGAAAATGGACTTGCGCA	0.637000													7	75					0	0	0.003080	0	0
LAMA5	3911	broad.mit.edu	37	20	60892524	60892524	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:60892524C>T	ENST00000252999.3	-	55	7454	c.7388G>A	c.(7387-7389)gGg>gAg	p.G2463E		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2463	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTCCGAGCCCCATCCAGGCT	0.682000													3	13					0	0	0.000248	0	0
LHX9	56956	broad.mit.edu	37	1	197889123	197889123	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:197889123G>A	ENST00000367390.3	+	3	196	c.169G>A	c.(169-171)Gag>Aag	p.E57K	LHX9_ENST00000337020.2_Missense_Mutation_p.E66K|LHX9_ENST00000367391.1_Missense_Mutation_p.E57K|LHX9_ENST00000367387.4_Missense_Mutation_p.E66K|LHX9_ENST00000561173.1_Missense_Mutation_p.E72K	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	66					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GCTCAGCCCGGAGAAGCCCGC	0.662000													6	67					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179419873	179419873	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179419873G>A	ENST00000589042.1	-	331	88537	c.88313C>T	c.(88312-88314)cCt>cTt	p.P29438L	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P27797L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P26870L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P20565L|TTN_ENST00000460472.2_Missense_Mutation_p.P20373L|TTN_ENST00000359218.5_Missense_Mutation_p.P20498L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27797	Fibronectin type-III 114.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCAATTACAGGACCACCTGC	0.373000													4	26					0	0	0.000248	0	0
CLPB	81570	broad.mit.edu	37	11	72084003	72084003	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:72084003C>T	ENST00000294053.3	-	5	875	c.702G>A	c.(700-702)ctG>ctA	p.L234L	CLPB_ENST00000437826.2_Silent_p.L189L|CLPB_ENST00000543042.1_Intron|CLPB_ENST00000445069.2_Silent_p.L130L|CLPB_ENST00000340729.5_Intron|CLPB_ENST00000538039.1_Intron	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	234					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TCCTGAACTCCAGGGCACTTG	0.577000													9	153					0	0	0.000978	0	0
IGHV3-11	28450	broad.mit.edu	37	14	106573654	106573654	+	RNA	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:106573654G>A	ENST00000390601.2	-	0	146																											TAGCAACAAGGAAAACCCAGC	0.468000													5	72					0	0	0.001168	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535692	69535692	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:69535692C>T	ENST00000338206.5	-	1	654	c.645G>A	c.(643-645)atG>atA	p.M215I		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	215					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										GCATATGTATCATATTTTTTA	0.343000													10	101					0	0	0.000673	0	0
MAN2A2	4122	broad.mit.edu	37	15	91448834	91448834	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:91448834C>T	ENST00000360468.3	+	3	434	c.416C>T	c.(415-417)cCg>cTg	p.P139L	MAN2A2_ENST00000559717.1_Missense_Mutation_p.P139L	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	139					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GAGGAGCTGCCGTTTGACAAC	0.592000													18	166					0	0	0.000958	0	0
PKD1L1	168507	broad.mit.edu	37	7	47921604	47921604	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:47921604G>A	ENST00000289672.2	-	20	3395	c.3345C>T	c.(3343-3345)gaC>gaT	p.D1115D		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1115	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACAGGGAGGGGTCCACCAGGT	0.567000													8	32					0	0	0.003080	0	0
ITGA8	8516	broad.mit.edu	37	10	15573084	15573084	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:15573084C>T	ENST00000378076.3	-	28	3300	c.2947G>A	c.(2947-2949)Gat>Aat	p.D983N		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	983					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GCTGGCTGATCTGTATAAGGC	0.308000													9	65					0	0	0.000673	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100002674	100002674	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:100002674G>A	ENST00000398027.2	-	13	1460	c.1213C>T	c.(1213-1215)Ctg>Ttg	p.L405L	ZCWPW1_ENST00000490721.1_Silent_p.L285L|ZCWPW1_ENST00000360951.4_Silent_p.L406L|ZCWPW1_ENST00000324725.6_Silent_p.L285L	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	405							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCATCATCAGGGCCACCCCC	0.463000													5	71					0	0	0.001984	0	0
NPSR1	387129	broad.mit.edu	37	7	34884511	34884511	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:34884511G>A	ENST00000360581.1	+	7	889	c.761G>A	c.(760-762)gGg>gAg	p.G254E	NPSR1_ENST00000381539.3_Missense_Mutation_p.G254E|NPSR1_ENST00000359791.1_Missense_Mutation_p.G254E|NPSR1_ENST00000381542.1_Missense_Mutation_p.G188E|NPSR1_ENST00000531252.1_Missense_Mutation_p.G243E	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	254						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TCTACAGATGGGAAACTGTGC	0.408000													9	28					0	0	0.000443	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54604093	54604093	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:54604093G>A	ENST00000474759.1	+	8	898	c.850G>A	c.(850-852)Gat>Aat	p.D284N	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.D284N|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.D190N|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.D284N	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	284	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		ATCCATTTTGGATACACTTGG	0.448000													7	95					0	0	0.003080	0	0
TSPAN8	7103	broad.mit.edu	37	12	71523180	71523180	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:71523180G>A	ENST00000393330.2	-	11	1143	c.591C>T	c.(589-591)ttC>ttT	p.F197F	TSPAN8_ENST00000247829.3_Silent_p.F197F|TSPAN8_ENST00000552128.1_Silent_p.F114F|TSPAN8_ENST00000546561.1_Silent_p.F197F			P19075	TSN8_HUMAN	tetraspanin 8	197					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			AGTCTTTTATGAAAGAAATAC	0.259000													8	155					0	0	0.000673	0	0
NMS	129521	broad.mit.edu	37	2	101097588	101097588	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:101097588G>A	ENST00000376865.1	+	8	380	c.372_splice	c.e8-1	p.D125_splice		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	125					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						TATGTTGCAGGATCACACTGC	0.428000													6	50					0	0	0.001984	0	0
PABPC3	5042	broad.mit.edu	37	13	25670866	25670866	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr13:25670866A>G	ENST00000281589.3	+	1	567	c.530A>G	c.(529-531)aAa>aGa	p.K177R		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	177					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAGTCTCGTAAAGAACGAGAA	0.408000													5	51					0	0	0.000602	0	0
RYR1	6261	broad.mit.edu	37	19	38989858	38989858	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:38989858C>T	ENST00000355481.4	+	43	7133	c.7002C>T	c.(7000-7002)ttC>ttT	p.F2334F	RYR1_ENST00000360985.3_Silent_p.F2334F|RYR1_ENST00000359596.3_Silent_p.F2334F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2334	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACCTGGACTTCCTGCGCTTTG	0.612000													6	36					0	0	0.003080	0	0
ATP7A	538	broad.mit.edu	37	X	77243747	77243747	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:77243747G>A	ENST00000341514.6	+	3	285	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	ATP7A_ENST00000343533.5_Missense_Mutation_p.E44K|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	44	HMA 1.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						GGTATCACTGGAAGAAAAAAA	0.338000													5	116					0	0	0.001984	0	0
AMPD2	271	broad.mit.edu	37	1	110171048	110171048	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:110171048C>T	ENST00000256578.3	+	11	1860	c.1500C>T	c.(1498-1500)tcC>tcT	p.S500S	AMPD2_ENST00000528454.1_Silent_p.S382S|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000342115.4_Silent_p.S419S|AMPD2_ENST00000528667.1_Silent_p.S500S|AMPD2_ENST00000393688.3_Silent_p.S381S|AMPD2_ENST00000358729.4_Silent_p.S425S|AMPD2_ENST00000526301.1_3'UTR	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	500					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		TTGGGGAGTCCGTCCTCCGAG	0.527000													7	49					0	0	0.001984	0	0
MUC17	140453	broad.mit.edu	37	7	100677362	100677362	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:100677362C>T	ENST00000306151.4	+	3	2729	c.2665C>T	c.(2665-2667)Cct>Tct	p.P889S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	889	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTCAACAACTCCTGTTGACAC	0.502000													7	198					0	0	0.001984	0	0
CLVS1	157807	broad.mit.edu	37	8	62289207	62289207	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:62289207G>A	ENST00000519846.1	+	4	971	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	CLVS1_ENST00000325897.4_Missense_Mutation_p.E167K|CLVS1_ENST00000518592.1_5'UTR			Q8IUQ0	CLVS1_HUMAN	clavesin 1	167	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GCTGTCATTGGAAGTCCTAAT	0.443000													4	38					0	0	0.001168	0	0
ZNF667	63934	broad.mit.edu	37	19	56952566	56952566	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:56952566G>A	ENST00000504904.3	-	7	2517	c.1798C>T	c.(1798-1800)Cga>Tga	p.R600*	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Nonsense_Mutation_p.R728*|ZNF667_ENST00000292069.6_Nonsense_Mutation_p.R600*			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	600					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTCTGATGTCGAATCAGGGAT	0.368000													6	56					0	0	0.003080	0	0
FOXJ2	55810	broad.mit.edu	37	12	8202049	8202049	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:8202049C>T	ENST00000162391.3	+	9	2564	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F	FOXJ2_ENST00000428177.2_Silent_p.F473F	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	473					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TCAACCACTTCCTTACTCAGA	0.572000													4	42					0	0	0.000602	0	0
CATSPER4	378807	broad.mit.edu	37	1	26524815	26524815	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:26524815C>T	ENST00000456354.2	+	6	784	c.717C>T	c.(715-717)ttC>ttT	p.F239F		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	239					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		TTGGTGCATTCGTGCCCAAGC	0.512000													11	119					0	0	0.001368	0	0
ELF2	1998	broad.mit.edu	37	4	140058853	140058853	+	Translation_Start_Site	SNP	C	C	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:140058853C>A	ENST00000394235.2	-	3	505	c.3G>T	c.(1-3)atG>atT	p.M1I	ELF2_ENST00000265495.4_Start_Codon_SNP_p.M1I|ELF2_ENST00000379550.1_Start_Codon_SNP_p.M1I	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	1					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					CTGCTGATGTCATTGTTATTC	0.358000													7	71					0.000157383	0.000322531	0.003080	1	0
CCDC102B	79839	broad.mit.edu	37	18	66564557	66564557	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr18:66564557C>T	ENST00000360242.5	+	6	1272	c.1155C>T	c.(1153-1155)atC>atT	p.I385I	CCDC102B_ENST00000319445.6_Silent_p.I385I|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Silent_p.I385I|CCDC102B_ENST00000584156.1_Silent_p.I385I	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	385										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GGCTGAAGATCCAGGTGAAAG	0.388000													5	45					0	0	0.000602	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103194685	103194685	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:103194685C>T	ENST00000375735.2	+	82	12150	c.12006C>T	c.(12004-12006)atC>atT	p.I4002I	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.I4009I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4002					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTGCCAATATCGCTCGCTCAT	0.388000													4	22					0	0	0.000602	0	0
CDKL5	6792	broad.mit.edu	37	X	18646507	18646507	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:18646507C>T	ENST00000379989.3	+	19	2798	c.2513C>T	c.(2512-2514)tCa>tTa	p.S838L	CDKL5_ENST00000379996.3_Missense_Mutation_p.S838L	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	838					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CCATTAAAATCACTGCGCAAG	0.498000													13	190					0	0	0.004990	0	0
LGR5	8549	broad.mit.edu	37	12	71978321	71978321	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:71978321C>T	ENST00000266674.5	+	18	2842	c.2531C>T	c.(2530-2532)tCa>tTa	p.S844L	LGR5_ENST00000540815.2_Missense_Mutation_p.S820L|LGR5_ENST00000536515.1_Missense_Mutation_p.S772L			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	844						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TGGACAAGATCAAAACACCCA	0.448000													14	239					0	0	0.004007	0	0
PRF1	5551	broad.mit.edu	37	10	72360277	72360277	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:72360277C>T	ENST00000441259.1	-	2	542	c.382G>A	c.(382-384)Gac>Aac	p.D128N	PRF1_ENST00000373209.2_Missense_Mutation_p.D128N	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	128	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						ACCTTCCAGTCGTTGCGGATG	0.632000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				4	21					0	0	0.001168	0	0
ZFP42	132625	broad.mit.edu	37	4	188924289	188924289	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:188924289G>T	ENST00000326866.4	+	4	736	c.328G>T	c.(328-330)Gtt>Ttt	p.V110F	ZFP42_ENST00000509524.1_Missense_Mutation_p.V110F	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	110					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TTCTCAAAAGGTTTTCGAAGC	0.403000													6	59					0.00116845	0.00238229	0.001168	1	0
KDM5C	8242	broad.mit.edu	37	X	53223707	53223707	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:53223707G>A	ENST00000452825.3	-	21	3983	c.3451C>T	c.(3451-3453)Cgc>Tgc	p.R1151C	KDM5C_ENST00000404049.3_Missense_Mutation_p.R1217C|KDM5C_ENST00000375379.3_Missense_Mutation_p.R1218C|KDM5C_ENST00000375383.3_Missense_Mutation_p.R1177C|KDM5C_ENST00000375401.3_Missense_Mutation_p.R1218C	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1218					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CTGAGGAGGCGAGGCACTGAC	0.607000			"""N, F, S"""		clear cell renal carcinoma								4	11					0	0	0.000248	0	0
COL4A4	1286	broad.mit.edu	37	2	227946859	227946859	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:227946859C>T	ENST00000396625.3	-	23	1875	c.1668G>A	c.(1666-1668)aaG>aaA	p.K556K	COL4A4_ENST00000329662.7_Silent_p.K556K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	556	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCATGTCACCCTTCGCCCCTT	0.413000													7	95					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179439156	179439156	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179439156C>T	ENST00000589042.1	-	326	71927	c.71703G>A	c.(71701-71703)gtG>gtA	p.V23901V	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.V22260V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.V21333V|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.V15028V|TTN_ENST00000460472.2_Silent_p.V14836V|TTN_ENST00000359218.5_Silent_p.V14961V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22260	Ig-like 120.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTGCAATCACCCGGAACT	0.448000													8	101					0	0	0.000673	0	0
ZBTB33	10009	broad.mit.edu	37	X	119388445	119388445	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:119388445C>T	ENST00000326624.2	+	2	1403	c.1175C>T	c.(1174-1176)tCa>tTa	p.S392L	ZBTB33_ENST00000557385.1_Missense_Mutation_p.S392L	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	392					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTAAAAATTTCAGATATAATT	0.343000													6	66					0	0	0.001168	0	0
PLXDC2	84898	broad.mit.edu	37	10	20453442	20453442	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:20453442A>G	ENST00000377252.3	+	7	1670	c.829A>G	c.(829-831)Aaa>Gaa	p.K277E	PLXDC2_ENST00000377242.3_Missense_Mutation_p.K228E|PLXDC2_ENST00000377238.2_3'UTR	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	277						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TCATCCAGTGAAAGTCGGACT	0.448000													3	24					0	0	0.000248	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54925126	54925126	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:54925126G>A	ENST00000293373.6	+	23	2668	c.2589G>A	c.(2587-2589)caG>caA	p.Q863Q	NCKAP1L_ENST00000545638.2_Silent_p.Q813Q	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	863					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGACCTCTCAGATTGTGGAGC	0.507000													9	74					0	0	0.000978	0	0
LRP2	4036	broad.mit.edu	37	2	170097612	170097612	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:170097612G>A	ENST00000263816.3	-	25	4216	c.3931C>T	c.(3931-3933)Cgc>Tgc	p.R1311C	LRP2_ENST00000443831.1_Missense_Mutation_p.R1174C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1311	LDL-receptor class A 15.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTAGGACAGCGAAAGGGCTGA	0.517000													4	32					0	0	0.000248	0	0
TRIML2	205860	broad.mit.edu	37	4	189022221	189022221	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:189022221C>T	ENST00000512729.1	-	3	693	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	TRIML2_ENST00000326754.3_Missense_Mutation_p.E107K|TRIML2_ENST00000536972.1_Missense_Mutation_p.E157K	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	107							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TGTAGCATTTCCTGGAACATC	0.403000													4	25					0	0	0.000248	0	0
HERC5	51191	broad.mit.edu	37	4	89384698	89384698	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:89384698C>T	ENST00000264350.3	+	5	857	c.704C>T	c.(703-705)tCc>tTc	p.S235F		NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	235					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GATGATCCATCCCTTATTGAA	0.438000													4	49					0	0	0.000602	0	0
TEX19	400629	broad.mit.edu	37	17	80320463	80320463	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:80320463C>T	ENST00000333437.4	+	2	747	c.437C>T	c.(436-438)cCc>cTc	p.P146L		NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN	testis expressed 19	146						nucleus				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						CAGGGTCTTCCCTGGAGATTT	0.602000													5	31					0	0	0.000602	0	0
DMBT1	1755	broad.mit.edu	37	10	124345611	124345611	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:124345611G>A	ENST00000338354.3	+	16	1601	c.1495G>A	c.(1495-1497)Gga>Aga	p.G499R	DMBT1_ENST00000368955.3_Missense_Mutation_p.G489R|DMBT1_ENST00000368909.3_Missense_Mutation_p.G499R|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.G489R			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	499	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCTGGTGAATGGAGGTGACAG	0.532000													9	124					0	0	0.004482	0	0
GOLGA2P9	440518	broad.mit.edu	37	19	22780133	22780133	+	RNA	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:22780133G>A	ENST00000600260.1	+	0	211					NR_033899.1																						CTACAGGAGTGAAAAAGAAAA	0.488000													5	26					0	0	0.000602	0	0
VBP1	7411	broad.mit.edu	37	X	154464603	154464603	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:154464603G>A	ENST00000286428.5	+	5	595	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	VBP1_ENST00000459836.1_3'UTR|VBP1_ENST00000535916.1_Missense_Mutation_p.E155K	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1	160					'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding			NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTCCCTGGAGGAAGACCTTGA	0.348000													6	91					0	0	0.003080	0	0
TFAP2D	83741	broad.mit.edu	37	6	50682961	50682961	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:50682961C>T	ENST00000008391.3	+	2	400	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	58							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					GTTTGCGTCCCCCTACTTCTC	0.582000													5	59					0	0	0.001168	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995406	140995406	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:140995406C>T	ENST00000285879.4	+	4	2502	c.2216C>T	c.(2215-2217)tCt>tTt	p.S739F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	739							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCAGTCTTCTCTCCAGAGT	0.552000										HNSCC(15;0.026)			9	89					0	0	0.004482	0	0
EEPD1	80820	broad.mit.edu	37	7	36336730	36336730	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:36336730A>T	ENST00000242108.4	+	7	2162	c.1444A>T	c.(1444-1446)Aac>Tac	p.N482Y	EEPD1_ENST00000534978.1_Missense_Mutation_p.N482Y	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	482					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CAGCACCAAGAACCCTCAAGG	0.483000													5	31					0	0	0.001984	0	0
ARSF	416	broad.mit.edu	37	X	3021848	3021848	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:3021848G>A	ENST00000381127.1	+	9	1369	c.1148G>A	c.(1147-1149)gGa>gAa	p.G383E	ARSF_ENST00000537104.1_Missense_Mutation_p.G383E|ARSF_ENST00000359361.2_Missense_Mutation_p.G383E	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	383						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGCGTCCCAGGAATTGTCCGA	0.453000													7	41					0	0	0.001984	0	0
SDR42E1	93517	broad.mit.edu	37	16	82032905	82032905	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:82032905C>T	ENST00000328945.5	-	3	1120	c.993G>A	c.(991-993)aaG>aaA	p.K331K		NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	331					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						CTAGCTCTTTCTTGGCTTTCT	0.458000													8	63					0	0	0.003080	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047174	42047174	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:42047174G>A	ENST00000372584.1	-	3	4309	c.3295C>T	c.(3295-3297)Ccg>Tcg	p.P1099S	HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1099S|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1099S|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P1099S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1099					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TTGCCTCCCGGGGGTCCACCA	0.612000													7	32					0	0	0.001984	0	0
S100A1	6271	broad.mit.edu	37	1	153604222	153604222	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:153604222G>A	ENST00000368698.3	+	4	496	c.349G>A	c.(349-351)Gag>Aag	p.E117K	S100A1_ENST00000368696.3_3'UTR|S100A1_ENST00000469893.1_3'UTR|S100A13_ENST00000368699.1_Intron|S100A1_ENST00000292169.1_Missense_Mutation_p.E64K|RP1-178F15.4_ENST00000469931.2_RNA|RP1-178F15.4_ENST00000607839.1_RNA|RP1-178F15.5_ENST00000497086.1_RNA			P23297	S10A1_HUMAN	S100 calcium binding protein A1	64					intracellular signal transduction|regulation of heart contraction	nucleus|protein complex|sarcoplasmic reticulum	ATPase binding|calcium ion binding|protein homodimerization activity|S100 alpha binding|S100 beta binding			breast(1)|cervix(1)|lung(2)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Olopatadine(DB00768)	GGAGCTAGACGAGAATGGAGA	0.542000													8	101					0	0	0.000673	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55286856	55286856	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:55286856G>C	ENST00000336077.6	+	4	650	c.610G>C	c.(610-612)Gac>Cac	p.D204H	CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.D204H|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	204	Ig-like C2-type 2.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CTCTTTCCATGACTCTCCATA	0.562000													7	40					0	0	0.003080	0	0
PROZ	8858	broad.mit.edu	37	13	113814420	113814420	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr13:113814420G>A	ENST00000342783.4	+	3	236	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	PROZ_ENST00000375547.2_Missense_Mutation_p.E55K	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	55	Gla.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	GGGAAACTTGGAAAAAGAATG	0.463000													6	64					0	0	0.001168	0	0
RTN2	6253	broad.mit.edu	37	19	45998125	45998125	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:45998125A>G	ENST00000245923.4	-	3	453	c.218T>C	c.(217-219)gTg>gCg	p.V73A	RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000344680.4_Missense_Mutation_p.V73A|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000589384.1_5'UTR	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	73						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		CCCGGAGCCCACTACACCATC	0.692000													4	26					0	0	0.000602	0	0
TRBV7-7	28591	broad.mit.edu	37	7	142120037	142120037	+	RNA	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:142120037G>A	ENST00000390377.1	-	0	129																											CTCGAAATTGGATCACACCTG	0.488000													5	25					0	0	0.001168	0	0
PKD1L1	168507	broad.mit.edu	37	7	47882731	47882731	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:47882731C>T	ENST00000289672.2	-	34	5324	c.5274G>A	c.(5272-5274)atG>atA	p.M1758I		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1758					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCACAGAACCCATAATAAAAA	0.343000													6	25					0	0	0.003080	0	0
CABP1	9478	broad.mit.edu	37	12	121093970	121093970	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:121093970C>T	ENST00000453000.1	+	1	869	c.357C>T	c.(355-357)ctC>ctT	p.L119L	CABP1_ENST00000288616.3_Silent_p.L40L|CABP1_ENST00000316803.3_Intron|CABP1_ENST00000351200.2_Intron			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	0	Pro-rich.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACGCCGAGCTCCCGGGACCGC	0.627000													6	107					0	0	0.003080	0	0
FAM199X	139231	broad.mit.edu	37	X	103431288	103431288	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:103431288G>A	ENST00000493442.1	+	4	881	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K	FAM199X_ENST00000299906.5_3'UTR	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	239										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						TCTCACAGATGAAAAACTGAA	0.308000													7	61					0	0	0.001984	0	0
FAM47A	158724	broad.mit.edu	37	X	34149886	34149886	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:34149886C>T	ENST00000346193.3	-	1	561	c.510G>A	c.(508-510)gaG>gaA	p.E170E		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	170										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTGTTGTCTTCTCCTGGGTCT	0.567000													5	27					0	0	0.000602	0	0
IFNA6	3443	broad.mit.edu	37	9	21350663	21350663	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:21350663T>G	ENST00000380210.1	-	1	714	c.224A>C	c.(223-225)gAa>gCa	p.E75A		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	75					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		AGAGATGGCTTCAGCCTTCTG	0.483000													5	38					0	0	0.001168	0	0
TPP1	1200	broad.mit.edu	37	11	6636403	6636403	+	Splice_Site	SNP	G	G	A	rs121908202	by1000genomes	TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:6636403G>A	ENST00000533371.1	-	10	1493	c.696_splice	c.e10+1	p.S232_splice	TPP1_ENST00000299427.6_Splice_Site_p.S475_splice			O14773	TPP1_HUMAN	tripeptidyl peptidase I	475					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		GATTCTCACCGAGGTTCCGGA	0.542000													5	62					0	0	0.001168	0	0
PTPRN2	5799	broad.mit.edu	37	7	157691407	157691407	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:157691407C>T	ENST00000389413.3	-	11	1762	c.1659G>A	c.(1657-1659)gaG>gaA	p.E553E	PTPRN2_ENST00000409483.1_Silent_p.E544E|PTPRN2_ENST00000389416.4_Silent_p.E565E|PTPRN2_ENST00000389418.4_Silent_p.E582E|PTPRN2_ENST00000404321.2_Silent_p.E605E	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	582						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CAGAGGTTTCCTCCAGTTTGT	0.512000													7	98					0	0	0.000443	0	0
SPATA17	128153	broad.mit.edu	37	1	218036175	218036175	+	Silent	SNP	A	A	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:218036175A>G	ENST00000366933.4	+	10	1120	c.1065A>G	c.(1063-1065)tcA>tcG	p.S355S	SPATA17_ENST00000471021.1_3'UTR	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	355						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AATTATATTCAAAAGCTGGAC	0.303000													14	139					0	0	0.004990	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88967772	88967772	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:88967772C>T	ENST00000375961.2	-	2	557	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	ZCCHC6_ENST00000375960.2_Missense_Mutation_p.E115K|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.E115K			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	115					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GGTTTGAATTCTCTCCAGTTG	0.423000													11	82					0	0	0.000978	0	0
LTA	4049	broad.mit.edu	37	6	31541101	31541101	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:31541101G>A	ENST00000454783.1	+	4	507	c.249G>A	c.(247-249)acG>acA	p.T83T	LTA_ENST00000418386.2_Silent_p.T83T	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	83					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	GAGCAAACACGGACCGTGCCT	0.567000													6	29					0	0	0.001168	0	0
OR2M5	127059	broad.mit.edu	37	1	248308789	248308789	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:248308789C>T	ENST00000366476.1	+	1	340	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CGAATGCTTTCTGTTGGCTGT	0.438000													15	99					0	0	0.002450	0	0
MYADM	91663	broad.mit.edu	37	19	54377066	54377066	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:54377066C>T	ENST00000391769.2	+	3	563	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S	MYADM_ENST00000391770.4_Missense_Mutation_p.P95S|MYADM_ENST00000391771.1_Missense_Mutation_p.P95S|MYADM_ENST00000336967.3_Missense_Mutation_p.P95S|MYADM_ENST00000391768.2_Missense_Mutation_p.P95S	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	95	MARVEL 1.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		GGCCCGCTTCCCCCTGTCTTG	0.612000													4	53					0	0	0.000602	0	0
TAF7L	54457	broad.mit.edu	37	X	100548021	100548021	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:100548021C>T	ENST00000372907.3	-	1	24	c.13G>A	c.(13-15)Gag>Aag	p.E5K	TAF7L_ENST00000372905.2_5'UTR	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	5					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						AGCTGTCCCTCGGGGCACTCC	0.483000													11	140					0	0	0.000978	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110031632	110031632	+	Missense_Mutation	SNP	C	C	T	rs141453920		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:110031632C>T	ENST00000369870.3	+	7	962	c.947C>T	c.(946-948)tCc>tTc	p.S316F		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	316										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAGCTCCCCTCCTCAGTCCAG	0.622000													8	131					0	0	0.003080	0	0
FLG	2312	broad.mit.edu	37	1	152283841	152283841	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:152283841C>T	ENST00000368799.1	-	3	3556	c.3521G>A	c.(3520-3522)gGa>gAa	p.G1174E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1174	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCCTTCCTCCTCTCCTTGA	0.597000									Ichthyosis				10	161					0	0	0.000978	0	0
MLF2	8079	broad.mit.edu	37	12	6861215	6861215	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:6861215G>A	ENST00000203630.5	-	3	700	c.56C>T	c.(55-57)cCc>cTc	p.P19L	MLF2_ENST00000539187.1_Missense_Mutation_p.P19L|MLF2_ENST00000435120.1_Missense_Mutation_p.P19L|MLF2_ENST00000542154.1_Missense_Mutation_p.P19L			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	19					defense response	cytoplasm|nucleus	protein binding			kidney(2)|large_intestine(3)|lung(4)	9						AATAGCAAAGGGATCCCTGTG	0.522000											OREG0021633	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	41					0	0	0.001168	0	0
ELMO3	79767	broad.mit.edu	37	16	67236316	67236316	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:67236316G>A	ENST00000393997.2	+	14	1494	c.1437G>A	c.(1435-1437)caG>caA	p.Q479Q	ELMO3_ENST00000360833.1_Silent_p.Q462Q|ELMO3_ENST00000477898.1_Silent_p.Q313Q	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	426	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)		AGACAGCCCAGGACTTCTCAC	0.607000													6	61					0	0	0.001984	0	0
ADAM9	8754	broad.mit.edu	37	8	38874779	38874779	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:38874779C>T	ENST00000487273.2	+	6	530	c.452C>T	c.(451-453)cCc>cTc	p.P151L		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	151					activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			GGGATTGAACCCCTGCAGAAC	0.373000													4	34					0	0	0.001168	0	0
ZBP1	81030	broad.mit.edu	37	20	56190020	56190020	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:56190020C>T	ENST00000340462.4	-	3	636	c.356G>A	c.(355-357)cGa>cAa	p.R119Q	ZBP1_ENST00000395822.3_Missense_Mutation_p.R67Q|ZBP1_ENST00000371173.3_Missense_Mutation_p.R142Q|ZBP1_ENST00000541799.1_Missense_Mutation_p.R142Q|ZBP1_ENST00000343535.4_Missense_Mutation_p.R142Q			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	142						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GTACAAGTCTCGGTTCACATC	0.552000													6	72					0	0	0.001168	0	0
FBXO3	26273	broad.mit.edu	37	11	33777442	33777442	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:33777442G>A	ENST00000530401.1	-	5	558	c.538C>T	c.(538-540)Cag>Tag	p.Q180*	FBXO3_ENST00000265651.3_Nonsense_Mutation_p.Q185*|FBXO3_ENST00000448981.2_Nonsense_Mutation_p.Q185*|FBXO3_ENST00000534136.1_Nonsense_Mutation_p.Q185*|FBXO3_ENST00000526785.1_Nonsense_Mutation_p.Q72*			Q9UK99	FBX3_HUMAN	F-box protein 3	185					proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		TGTCTCTGCTGGAATCCTCCG	0.458000													4	23					0	0	0.000248	0	0
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	RNA	SNP	C	C	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557000													5	96					0	0	0.000602	0	0
CGNL1	84952	broad.mit.edu	37	15	57743753	57743753	+	Missense_Mutation	SNP	C	C	T	rs111516593		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:57743753C>T	ENST00000281282.5	+	5	1937	c.1859C>T	c.(1858-1860)aCc>aTc	p.T620I		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	620						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGCAAGTTGACCATAGAagtg	0.348000													9	56					0	0	0.004482	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045530	142045530	+	RNA	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:142045530G>A	ENST00000390392.3	+	0	169																											AGTCCCCATGGAAACGGGAGT	0.473000													6	83					0	0	0.000443	0	0
TTN	7273	broad.mit.edu	37	2	179399404	179399404	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179399404C>T	ENST00000589042.1	-	358	102162	c.101938G>A	c.(101938-101940)Gaa>Aaa	p.E33980K	TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E32339K|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31412K|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25107K|TTN_ENST00000460472.2_Missense_Mutation_p.E24915K|TTN_ENST00000359218.5_Missense_Mutation_p.E25040K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32339	Ig-like 150.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCATAGTATTCTGGGGCAGTG	0.453000													5	33					0	0	0.000602	0	0
ATRX	546	broad.mit.edu	37	X	76939417	76939417	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:76939417C>T	ENST00000373344.5	-	9	1545	c.1331G>A	c.(1330-1332)cGa>cAa	p.R444Q	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R406Q	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	444					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCTCCTTTTCGTGCTTTTGT	0.358000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						10	139					0	0	0.000443	0	0
EPHA6	285220	broad.mit.edu	37	3	96706657	96706657	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:96706657C>T	ENST00000389672.5	+	3	972	c.934C>T	c.(934-936)Cct>Tct	p.P312S	EPHA6_ENST00000470610.2_Missense_Mutation_p.P312S|EPHA6_ENST00000542517.1_Missense_Mutation_p.P218S	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	217						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GGCCATGTTTCCTGATACCAT	0.468000													7	83					0	0	0.003080	0	0
OR51I1	390063	broad.mit.edu	37	11	5461909	5461909	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:5461909G>A	ENST00000380211.1	-	1	835	c.836C>T	c.(835-837)tCc>tTc	p.S279F	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTAGACATTGGACATCATGAC	0.458000													4	28					0	0	0.000602	0	0
TUBA3E	112714	broad.mit.edu	37	2	130951526	130951526	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:130951526C>T	ENST00000312988.7	-	4	989	c.889G>A	c.(889-891)Gag>Aag	p.E297K		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	297					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TTGGCTGGCTCGAAGCAGGCA	0.597000													7	54					0	0	0.004482	0	0
LRCH4	4034	broad.mit.edu	37	7	100176275	100176275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:100176275G>A	ENST00000310300.6	-	5	785	c.733C>T	c.(733-735)Cag>Tag	p.Q245*	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	245					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGCCTCACCTGGGCAGGTGGA	0.657000													5	17					0	0	0.000602	0	0
EHMT2	10919	broad.mit.edu	37	6	31851634	31851634	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:31851634C>T	ENST00000395728.3	-	21	3035	c.3036G>A	c.(3034-3036)gaG>gaA	p.E1012E	EHMT2_ENST00000480912.1_5'UTR|EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000375530.4_Silent_p.E921E|EHMT2_ENST00000375537.4_Silent_p.E955E|EHMT2_ENST00000375528.4_Silent_p.E978E			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	955	Pre-SET.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TCTCGCAGTTCTCTGAGATGT	0.597000													22	208					0	0	0.004656	0	0
CALCR	799	broad.mit.edu	37	7	93073039	93073039	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:93073039G>A	ENST00000359558.2	-	11	1080	c.781C>T	c.(781-783)Cag>Tag	p.Q261*	CALCR_ENST00000421592.1_Nonsense_Mutation_p.Q243*|CALCR_ENST00000426151.1_Nonsense_Mutation_p.Q227*|CALCR_ENST00000394441.1_Nonsense_Mutation_p.Q227*|CALCR_ENST00000360249.4_Nonsense_Mutation_p.Q243*	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	243					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ATCATGTACTGGTGGAAAAAA	0.448000													4	27					0	0	0.000602	0	0
STPG2	285555	broad.mit.edu	37	4	98902377	98902377	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:98902377C>T	ENST00000295268.3	-	6	794	c.705G>A	c.(703-705)ctG>ctA	p.L235L		NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		GAATATTTTTCAGTCCTGATG	0.393000													7	70					0	0	0.003080	0	0
NLGN4X	57502	broad.mit.edu	37	X	5947423	5947423	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:5947423C>T	ENST00000381095.3	-	3	1150	c.523G>A	c.(523-525)Gga>Aga	p.G175R	NLGN4X_ENST00000381093.2_Missense_Mutation_p.G195R|NLGN4X_ENST00000538097.1_Missense_Mutation_p.G175R|NLGN4X_ENST00000381092.1_Missense_Mutation_p.G175R|NLGN4X_ENST00000275857.6_Missense_Mutation_p.G175R	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	175					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						ATGTAAGATCCCCCATGGATA	0.443000													4	16					0	0	0.000602	0	0
STK38L	23012	broad.mit.edu	37	12	27450708	27450708	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:27450708G>A	ENST00000389032.3	+	2	224	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	STK38L_ENST00000539577.1_Intron	NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like	19					intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					CCATACCCGGGAAAGAGTGAC	0.403000													4	35					0	0	0.000602	0	0
CFB	629	broad.mit.edu	37	6	31905101	31905101	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:31905101G>A	ENST00000556679.1	+	5	590	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	C2_ENST00000299367.5_Missense_Mutation_p.E332K|CFB_ENST00000456570.1_Missense_Mutation_p.E179K|C2_ENST00000452323.2_Missense_Mutation_p.E118K|C2_ENST00000469372.1_Missense_Mutation_p.E86K|C2_ENST00000442278.2_Missense_Mutation_p.E200K|CFB_ENST00000477310.1_Missense_Mutation_p.E150K			P00751	CFAB_HUMAN	complement factor B	348	Sushi 3.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TCCAGATCATGAAAATGGAAC	0.463000													11	148					0	0	0.001368	0	0
CYP2E1	1571	broad.mit.edu	37	10	135346211	135346211	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:135346211C>T	ENST00000463117.2	+	7	936	c.664C>T	c.(664-666)Ccc>Tcc	p.P222S	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.P222S			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	222					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	CAATAATTTTCCCAGCTTTCT	0.378000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				12	103					0	0	0.004990	0	0
AGAP7	653268	broad.mit.edu	37	10	51472635	51472635	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:51472635G>A	ENST00000374095.5	-	4	470	c.345C>T	c.(343-345)ttC>ttT	p.F115F		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	115					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						ATTGTTGACTGAAATGCACAG	0.358000													10	134					0	0	0.001855	0	0
BCL9	607	broad.mit.edu	37	1	147092682	147092682	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:147092682C>T	ENST00000234739.3	+	8	3461	c.2721C>T	c.(2719-2721)tcC>tcT	p.S907S		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	907	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCATTAAGTCCCCCCCTGTTT	0.622000			T	"""IGH@, IGL@"""	B-ALL								8	41					0	0	0.004482	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175159	140175159	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:140175159G>A	ENST00000526136.1	+	1	610	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E204K|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E204K	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACAGAGAGGAAACTGCTGA	0.443000													10	72					0	0	0.000673	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687279	68687279	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:68687279C>T	ENST00000361320.4	+	2	1183	c.605C>T	c.(604-606)gCt>gTt	p.A202V	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	202						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AATGTCTTTGCTGGCATGATC	0.478000													10	73					0	0	0.000443	0	0
TTN	7273	broad.mit.edu	37	2	179497406	179497406	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179497406C>T	ENST00000589042.1	-	235	43551	c.43327G>A	c.(43327-43329)Gga>Aga	p.G14443R	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G12802R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G11875R|TTN_ENST00000342175.6_Missense_Mutation_p.G5570R|TTN_ENST00000460472.2_Missense_Mutation_p.G5378R|TTN_ENST00000359218.5_Missense_Mutation_p.G5503R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12802	Fibronectin type-III 4.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTGGGTTCCTTTTAGCCAA	0.423000													6	69					0	0	0.004482	0	0
FAM221A	340277	broad.mit.edu	37	7	23740447	23740447	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:23740447A>C	ENST00000344962.4	+	6	877	c.788A>C	c.(787-789)gAg>gCg	p.E263A	FAM221A_ENST00000409994.3_Missense_Mutation_p.E169A|FAM221A_ENST00000409192.3_Missense_Mutation_p.E227A|FAM221A_ENST00000483090.1_3'UTR|FAM221A_ENST00000409653.1_Missense_Mutation_p.E205A	NM_199136.3	NP_954587.2	A4D161	CG046_HUMAN	family with sequence similarity 221, member A	263																	AGACCTGAAGAGGATGATATG	0.338000													23	181					0	0	0.001061	0	0
TACC2	10579	broad.mit.edu	37	10	123984295	123984295	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:123984295C>T	ENST00000369005.1	+	12	7941	c.7601C>T	c.(7600-7602)tCc>tTc	p.S2534F	TACC2_ENST00000513429.1_Missense_Mutation_p.S680F|TACC2_ENST00000368999.1_Missense_Mutation_p.S624F|TACC2_ENST00000360561.3_Missense_Mutation_p.S612F|TACC2_ENST00000453444.2_Missense_Mutation_p.S2538F|TACC2_ENST00000515603.1_Missense_Mutation_p.S2489F|TACC2_ENST00000358010.1_Missense_Mutation_p.S680F|TACC2_ENST00000334433.3_Missense_Mutation_p.S2534F|TACC2_ENST00000260733.3_Missense_Mutation_p.S612F|TACC2_ENST00000515273.1_Missense_Mutation_p.S2538F|TACC2_ENST00000369004.3_Missense_Mutation_p.S624F|TACC2_ENST00000369001.1_Missense_Mutation_p.S238F|TACC2_ENST00000369000.1_Missense_Mutation_p.S234F	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2534						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ATTGGCTCCTCCTTACCTGTA	0.468000													8	94					0	0	0.000443	0	0
ABCB4	5244	broad.mit.edu	37	7	87092091	87092091	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:87092091C>T	ENST00000265723.4	-	4	380	c.269G>A	c.(268-270)gGa>gAa	p.G90E	ABCB4_ENST00000545634.1_Missense_Mutation_p.G90E|ABCB4_ENST00000453593.1_Missense_Mutation_p.G90E|ABCB4_ENST00000358400.3_Missense_Mutation_p.G90E|ABCB4_ENST00000359206.3_Missense_Mutation_p.G90E	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	90	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GGAGAAGTTTCCTGCAGTATC	0.388000													5	33					0	0	0.000602	0	0
DPY19L2	283417	broad.mit.edu	37	12	63991597	63991597	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:63991597C>T	ENST00000324472.4	-	14	1636	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K		NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	485					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ACCGCTTTTTCCATGAAGTCA	0.338000													9	71					0	0	0.000443	0	0
NUP210L	91181	broad.mit.edu	37	1	154067584	154067584	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:154067584C>T	ENST00000368559.3	-	15	2085	c.2014G>A	c.(2014-2016)Gaa>Aaa	p.E672K	NUP210L_ENST00000271854.3_Missense_Mutation_p.E672K	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	672						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AATACCATTTCCTTCACAGAC	0.408000													5	53					0	0	0.001168	0	0
BRINP2	57795	broad.mit.edu	37	1	177250392	177250392	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:177250392C>T	ENST00000361539.4	+	8	2392	c.2080C>T	c.(2080-2082)Cca>Tca	p.P694S	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		694						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GCCCTTTGACCCAGATGCTAT	0.488000													6	73					0	0	0.001984	0	0
DDI1	414301	broad.mit.edu	37	11	103908034	103908034	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:103908034G>A	ENST00000302259.3	+	1	727	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	162					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCTGCTCAAGGAACGCAACCC	0.622000													5	59					0	0	0.001984	0	0
ADAM28	10863	broad.mit.edu	37	8	24199186	24199186	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:24199186C>T	ENST00000265769.4	+	16	1856	c.1746C>T	c.(1744-1746)ttC>ttT	p.F582F	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Silent_p.F329F|RP11-624C23.1_ENST00000523700.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	582	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			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)		TAGTGACTTTCCTGACATGTA	0.423000													6	61					0	0	0.001168	0	0
VPS13B	157680	broad.mit.edu	37	8	100829870	100829870	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:100829870C>T	ENST00000358544.2	+	45	8386	c.8275C>T	c.(8275-8277)Cgg>Tgg	p.R2759W	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.R2734W	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2759					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGCTGTAGTTCGGGAACATTT	0.418000													5	46					0	0	0.000602	0	0
ZNF239	8187	broad.mit.edu	37	10	44053048	44053048	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:44053048C>T	ENST00000306006.6	-	2	1132	c.480G>A	c.(478-480)tgG>tgA	p.W160*	ZNF239_ENST00000426961.1_Nonsense_Mutation_p.W160*|ZNF239_ENST00000535642.1_Nonsense_Mutation_p.W160*|ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000374446.2_Nonsense_Mutation_p.W160*	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CCTGTGATTTCCATCCATGAA	0.448000													6	41					0	0	0.001168	0	0
OR4M1	441670	broad.mit.edu	37	14	20248628	20248628	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:20248628C>T	ENST00000315957.4	+	1	228	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTGCACCATCAGGCTAGACC	0.428000													9	258					0	0	0.000978	0	0
MUC17	140453	broad.mit.edu	37	7	100685955	100685955	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:100685955C>T	ENST00000306151.4	+	3	11322	c.11258C>T	c.(11257-11259)aCc>aTc	p.T3753I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3753	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAATAAGCACCCTTGGGACC	0.488000													9	82					0	0	0.004482	0	0
TAS1R2	80834	broad.mit.edu	37	1	19185996	19185996	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:19185996G>A	ENST00000375371.3	-	1	180	c.159C>T	c.(157-159)ttC>ttT	p.F53F	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	53					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GCACCTGCAGGAAGTTAAGGT	0.607000													7	39					0	0	0.003080	0	0
ACSM2A	123876	broad.mit.edu	37	16	20494401	20494401	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:20494401C>T	ENST00000573854.1	+	13	1645	c.1531C>T	c.(1531-1533)Ctg>Ttg	p.L511L	ACSM2A_ENST00000417235.2_Silent_p.L432L|ACSM2A_ENST00000396104.2_Silent_p.L511L|ACSM2A_ENST00000219054.6_Silent_p.L511L|ACSM2A_ENST00000536134.1_Silent_p.L283L|ACSM2A_ENST00000575690.1_Silent_p.L511L	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	511					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						ATTTGTGGTCCTGGCCTCGCA	0.493000													7	56					0	0	0.001984	0	0
ERC2	26059	broad.mit.edu	37	3	56330089	56330089	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:56330089C>T	ENST00000288221.6	-	3	1287	c.1032G>A	c.(1030-1032)gtG>gtA	p.V344V		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	344						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GATCTAAAATCACTTCCAAGT	0.428000													7	59					0	0	0.001984	0	0
RYR3	6263	broad.mit.edu	37	15	33916099	33916099	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:33916099G>A	ENST00000389232.4	+	20	2519	c.2449G>A	c.(2449-2451)Gag>Aag	p.E817K	RYR3_ENST00000415757.3_Missense_Mutation_p.E817K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	817					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACTTCCAAAAGAGAAGATGAG	0.468000													5	59					0	0	0.001168	0	0
ELFN2	114794	broad.mit.edu	37	22	37769893	37769893	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr22:37769893G>A	ENST00000402918.1	-	3	2467	c.1682C>T	c.(1681-1683)tCt>tTt	p.S561F	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.S561F	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	561						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TCCCAGAAAAGAGGCCGAGTC	0.632000													9	25					0	0	0.004482	0	0
TMEM67	91147	broad.mit.edu	37	8	94828614	94828614	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:94828614C>T	ENST00000453321.3	+	28	2980	c.2922C>T	c.(2920-2922)atC>atT	p.I974I	TMEM67_ENST00000409623.3_Silent_p.I893I	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	974					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TTAGATATATCCGTAATACAG	0.259000													5	70					0	0	0.001984	0	0
DNAH5	1767	broad.mit.edu	37	5	13786434	13786434	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:13786434C>T	ENST00000265104.4	-	52	8778	c.8674G>A	c.(8674-8676)Gaa>Aaa	p.E2892K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2892					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTAGGTGTTTCAGCATCAGCC	0.388000									Kartagener syndrome				5	30					0	0	0.001168	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882732	228882732	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:228882732C>T	ENST00000392056.3	-	7	2884	c.2838G>A	c.(2836-2838)gcG>gcA	p.A946A	SPHKAP_ENST00000344657.5_Silent_p.A946A	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	946	PKA-RII subunit binding domain (By similarity).					cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAAGGCAAATCGCTGCAATTT	0.473000													8	60					0	0	0.003080	0	0
PNMA3	29944	broad.mit.edu	37	X	152226134	152226134	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:152226134G>A	ENST00000447306.1	+	2	1058	c.722G>A	c.(721-723)gGa>gAa	p.G241E	PNMA3_ENST00000370264.4_Missense_Mutation_p.G241E|PNMA3_ENST00000370265.4_Missense_Mutation_p.G241E	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	241					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					caggtgttcggacctgtggag	0.552000													16	114					0	0	0.003163	0	0
CDH17	1015	broad.mit.edu	37	8	95143179	95143179	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:95143179C>T	ENST00000027335.3	-	16	2333	c.2209G>A	c.(2209-2211)Gag>Aag	p.E737K	CDH17_ENST00000450165.2_Missense_Mutation_p.E737K|CDH17_ENST00000441892.2_Missense_Mutation_p.E523K	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	737	Cadherin 7.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TACTCCCTCTCCTCAAACTCT	0.473000													5	28					0	0	0.000602	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869597	151869597	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:151869597G>C	ENST00000329342.5	+	3	512	c.287G>C	c.(286-288)aGc>aCc	p.S96T		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	96							protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGGGCCAAGCACCTTCCCT	0.567000													4	56					0	0	0.000602	0	0
CD5L	922	broad.mit.edu	37	1	157805728	157805728	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:157805728G>A	ENST00000368174.4	-	3	369	c.273C>T	c.(271-273)atC>atT	p.I91I		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	91	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGACTGATTGGATGAGGACCT	0.498000													12	141					0	0	0.001368	0	0
FAM83C	128876	broad.mit.edu	37	20	33876639	33876639	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:33876639G>A	ENST00000374408.3	-	2	732	c.636C>T	c.(634-636)ttC>ttT	p.F212F		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	212										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ACATCTCCAGGAAGTGCCTCA	0.612000													5	41					0	0	0.000602	0	0
ASCC3	10973	broad.mit.edu	37	6	100957956	100957956	+	Missense_Mutation	SNP	G	G	A	rs141591240		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:100957956G>A	ENST00000369162.2	-	41	6657	c.6313C>T	c.(6313-6315)Cct>Tct	p.P2105S		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	2105	SEC63 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GGAAATCGAGGAGTAACTGCA	0.363000													13	157					0	0	0.003163	0	0
PSEN1	5663	broad.mit.edu	37	14	73640349	73640349	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:73640349C>T	ENST00000324501.5	+	5	686	c.414C>T	c.(412-414)atC>atT	p.I138I	PSEN1_ENST00000406768.1_Silent_p.I46I|PSEN1_ENST00000357710.4_Silent_p.I134I|PSEN1_ENST00000557511.1_Silent_p.I138I|PSEN1_ENST00000261970.3_Silent_p.I138I|PSEN1_ENST00000394157.3_Silent_p.I138I|PSEN1_ENST00000394164.1_Silent_p.I134I|PSEN1_ENST00000344094.3_Silent_p.I138I	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	138					amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		ATGCTGCCATCATGATCAGTG	0.443000													7	58					0	0	0.001984	0	0
MS4A3	932	broad.mit.edu	37	11	59830065	59830065	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:59830065G>A	ENST00000278865.3	+	3	354	c.281G>A	c.(280-282)tGg>tAg	p.W94*	MS4A3_ENST00000534744.1_Intron|MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000358152.2_Intron	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	94						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TACCCGATTTGGGGTGCTGTG	0.423000													7	48					0	0	0.003080	0	0
LIFR	3977	broad.mit.edu	37	5	38482185	38482185	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:38482185G>A	ENST00000263409.4	-	20	2968	c.2806C>T	c.(2806-2808)Cgc>Tgc	p.R936C	LIFR_ENST00000453190.2_Missense_Mutation_p.R936C	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	936					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GCATCAGAGCGATCTTCAGGA	0.453000			T	PLAG1	salivary adenoma								6	53					0	0	0.001984	0	0
CDK5	1020	broad.mit.edu	37	7	150752425	150752425	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:150752425G>A	ENST00000485972.1	-	8	1200	c.519C>T	c.(517-519)ctC>ctT	p.L173L	CDK5_ENST00000297518.4_Silent_p.L141L	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	173	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		TGGCCCCAAAGAGGACATCCG	0.602000													4	30					0	0	0.000602	0	0
ASB15	142685	broad.mit.edu	37	7	123267301	123267301	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:123267301C>T	ENST00000451558.1	+	11	1356	c.835C>T	c.(835-837)Cct>Tct	p.P279S	ASB15_ENST00000275699.3_Missense_Mutation_p.P279S|ASB15_ENST00000451215.1_Missense_Mutation_p.P279S|ASB15_ENST00000540573.1_Missense_Mutation_p.P279S|ASB15_ENST00000434204.1_Missense_Mutation_p.P279S			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	279					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AGGACATCTTCCTATACACCG	0.433000													4	25					0	0	0.000248	0	0
OR13C5	138799	broad.mit.edu	37	9	107360965	107360965	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:107360965G>A	ENST00000374779.2	-	1	823	c.730C>T	c.(730-732)Cgt>Tgt	p.R244C		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						ACAGTCAGACGAGCTGAGCAG	0.418000													5	28					0	0	0.000602	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10911994	10911994	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:10911994A>T	ENST00000381661.3	+	7	609	c.500A>T	c.(499-501)gAt>gTt	p.D167V	ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.D167V	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	167					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		ACACTGAGTGATATTGTGAGC	0.527000													7	85					0	0	0.004482	0	0
KIFC1	3833	broad.mit.edu	37	6	33374381	33374381	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:33374381C>T	ENST00000428849.2	+	9	2290	c.1840C>T	c.(1840-1842)Cct>Tct	p.P614S		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	614					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GTCCCACGTGCCTTACCGGAA	0.542000													5	30					0	0	0.001168	0	0
CTPS2	56474	broad.mit.edu	37	X	16720909	16720909	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:16720909G>A	ENST00000443824.1	-	2	860	c.117C>T	c.(115-117)atC>atT	p.I39I	CTPS2_ENST00000380241.3_Silent_p.I39I|CTPS2_ENST00000359276.4_Silent_p.I39I	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	39					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					TATAGGGGTCGATTTTTATGG	0.458000													12	90					0	0	0.002450	0	0
MYO5C	55930	broad.mit.edu	37	15	52571829	52571829	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:52571829G>A	ENST00000261839.7	-	3	342	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	MYO5C_ENST00000541028.1_5'UTR|MYO5C_ENST00000443683.2_5'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	61	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)		TCAGGATTCCGAAGTGGAGGC	0.463000													5	42					0	0	0.001168	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994545	140994545	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:140994545C>T	ENST00000285879.4	+	4	1641	c.1355C>T	c.(1354-1356)tCc>tTc	p.S452F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	452							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTTTCTCCTACACTTTA	0.463000										HNSCC(15;0.026)			11	92					0	0	0.000673	0	0
SLC26A2	1836	broad.mit.edu	37	5	149361301	149361301	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:149361301G>A	ENST00000286298.4	+	3	2413	c.2145G>A	c.(2143-2145)gcG>gcA	p.A715A		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	715	STAS.		A -> V (in AO2).			integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGTATGAAGCGATGGCTTTTG	0.403000													5	49					0	0	0.001168	0	0
LRRC23	10233	broad.mit.edu	37	12	7022119	7022119	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:7022119G>A	ENST00000007969.8	+	7	1204	c.984G>A	c.(982-984)caG>caA	p.Q328Q	LRRC23_ENST00000323702.5_Intron|LRRC23_ENST00000443597.2_Silent_p.Q328Q|LRRC23_ENST00000436789.1_Intron|LRRC23_ENST00000429740.1_Intron	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	328										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						AAAAGGAGCAGGAGCCTGAGC	0.537000													9	100					0	0	0.004482	0	0
FLG	2312	broad.mit.edu	37	1	152281618	152281618	+	Missense_Mutation	SNP	C	C	T	rs145528116		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:152281618C>T	ENST00000368799.1	-	3	5779	c.5744G>A	c.(5743-5745)gGa>gAa	p.G1915E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1915	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AACACTGGATCCCTGGTTCCT	0.582000									Ichthyosis				12	147					0	0	0.002450	0	0
PAK7	57144	broad.mit.edu	37	20	9547014	9547014	+	Silent	SNP	T	T	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:9547014T>G	ENST00000378429.3	-	6	1554	c.1008A>C	c.(1006-1008)gcA>gcC	p.A336A	PAK7_ENST00000378423.1_Silent_p.A336A|PAK7_ENST00000353224.5_Silent_p.A336A	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	336	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGACCATCTGTGCTCGATCGT	0.532000													5	58					0	0	0.000602	0	0
DGKB	1607	broad.mit.edu	37	7	14378223	14378223	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:14378223C>T	ENST00000403951.2	-	23	2461	c.2042G>A	c.(2041-2043)cGa>cAa	p.R681Q	DGKB_ENST00000399322.3_Missense_Mutation_p.R681Q|DGKB_ENST00000407950.1_Missense_Mutation_p.R673Q|DGKB_ENST00000406247.3_Missense_Mutation_p.R681Q|DGKB_ENST00000258767.5_Missense_Mutation_p.R681Q|DGKB_ENST00000402815.1_Missense_Mutation_p.R680Q|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Missense_Mutation_p.R662Q			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	681					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.R681Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TCGATGGCTTCGTCTTTTCTT	0.398000													5	36					0	0	0.000602	0	0
NR3C2	4306	broad.mit.edu	37	4	149115960	149115960	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:149115960G>A	ENST00000355292.3	-	4	2325	c.1963C>T	c.(1963-1965)Cga>Tga	p.R655*	NR3C2_ENST00000342437.4_Nonsense_Mutation_p.R651*|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000358102.3_Nonsense_Mutation_p.R651*|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000344721.4_Nonsense_Mutation_p.R651*|NR3C2_ENST00000511528.1_Nonsense_Mutation_p.R655*|NR3C2_ENST00000512865.1_Nonsense_Mutation_p.R651*			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	651					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TTCTTTCGTCGAATCTTATCA	0.294000													7	70					0	0	0.003080	0	0
LST3	0	broad.mit.edu	37	12	21242920	21242920	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:21242920G>A	ENST00000540229.1	+	16	2192	c.2127G>A	c.(2125-2127)agG>agA	p.R709R	SLCO1B3_ENST00000553473.1_Silent_p.R709R|SLCO1B7_ENST00000421593.2_Silent_p.R601R|RP11-125O5.2_ENST00000590779.1_Intron|LST3_ENST00000381541.3_Silent_p.R648R|SLCO1B7_ENST00000554957.1_Silent_p.R648R																							TTGTTGTAAGGAAAAAATCCC	0.323000													4	32					0	0	0.000248	0	0
GP2	2813	broad.mit.edu	37	16	20331078	20331078	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:20331078G>A	ENST00000302555.5	-	6	1020	c.871C>T	c.(871-873)Cat>Tat	p.H291Y	GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381360.5_Missense_Mutation_p.H147Y|GP2_ENST00000381362.4_Missense_Mutation_p.H294Y|GP2_ENST00000341642.5_Missense_Mutation_p.H144Y			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	294	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TAGATGGCATGGGTTTGATTT	0.393000													6	73					0	0	0.001984	0	0
LYST	1130	broad.mit.edu	37	1	235955205	235955205	+	Missense_Mutation	SNP	C	C	T	rs111722949	byFrequency	TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:235955205C>T	ENST00000389794.3	-	12	4511	c.4337G>A	c.(4336-4338)cGg>cAg	p.R1446Q	LYST_ENST00000536965.1_Intron|LYST_ENST00000389793.2_Missense_Mutation_p.R1446Q			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1446					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGAAAGCAGCCGATGGGGAAA	0.493000													6	45					0	0	0.001168	0	0
CDH18	1016	broad.mit.edu	37	5	19747232	19747232	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:19747232T>A	ENST00000507958.1	-	6	1332	c.342A>T	c.(340-342)aaA>aaT	p.K114N	CDH18_ENST00000274170.4_Missense_Mutation_p.K114N|CDH18_ENST00000382275.1_Missense_Mutation_p.K114N|CDH18_ENST00000502796.1_Missense_Mutation_p.K114N|CDH18_ENST00000506372.1_Missense_Mutation_p.K114N|CDH18_ENST00000511273.1_Missense_Mutation_p.K114N			Q13634	CAD18_HUMAN	cadherin 18, type 2	114	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGTCTAGGCTTTTTGTTGAGT	0.443000													7	59					0	0	0.001984	0	0
IGKV1-27	28935	broad.mit.edu	37	2	89513351	89513351	+	RNA	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:89513351C>T	ENST00000498435.1	-	0	62																											CAGCAGGAGTCCCAGGAGCTG	0.498000													4	36					0	0	0.000602	0	0
AHNAK	79026	broad.mit.edu	37	11	62290119	62290119	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:62290119G>A	ENST00000378024.4	-	5	12044	c.11770C>T	c.(11770-11772)Cga>Tga	p.R3924*	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3924					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTGGGCCTCGAACATCCACA	0.483000													8	133					0	0	0.004482	0	0
CACNA1E	777	broad.mit.edu	37	1	181724528	181724528	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:181724528G>C	ENST00000526775.1	+	27	4092	c.3927G>C	c.(3925-3927)gaG>gaC	p.E1309D	CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1309D|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E935D|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E1328D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1260D|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1328D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1279D	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1328					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAGAGAAGGAGTGCATGTAAG	0.483000													4	80					0	0	0.000602	0	0
CNTN5	53942	broad.mit.edu	37	11	100169975	100169975	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:100169975G>A	ENST00000524871.1	+	20	2757	c.2467G>A	c.(2467-2469)Gaa>Aaa	p.E823K	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.E749K|CNTN5_ENST00000527185.1_Missense_Mutation_p.E823K|CNTN5_ENST00000279463.3_Missense_Mutation_p.E823K|CNTN5_ENST00000528682.1_Missense_Mutation_p.E823K	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	823	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.E823K(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGGCTGGAAGGAAAAAATGGT	0.408000													3	5					0	0	0.004672	0	0
SCN2A	6326	broad.mit.edu	37	2	166172019	166172019	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:166172019C>T	ENST00000357398.3	+	11	1712	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	SCN2A_ENST00000375427.2_Silent_p.F474F|SCN2A_ENST00000375437.2_Silent_p.F474F|SCN2A_ENST00000283256.6_Silent_p.F474F			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	474					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CAAGAGACTTCAGTGGTGCTG	0.408000													6	34					0	0	0.004482	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76513374	76513374	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:76513374C>T	ENST00000307431.8	+	13	2203	c.1818C>T	c.(1816-1818)taC>taT	p.Y606Y	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.Y558Y|CNTNAP4_ENST00000478060.1_Silent_p.Y534Y|CNTNAP4_ENST00000476707.1_Silent_p.Y610Y	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	607	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAGGGTTTTACTATATAGATT	0.338000													7	81					0	0	0.003080	0	0
ALDOC	230	broad.mit.edu	37	17	26900874	26900874	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:26900874G>A	ENST00000226253.4	-	8	1353	c.878C>T	c.(877-879)cCc>cTc	p.P293L	RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395321.2_Missense_Mutation_p.P293L|ALDOC_ENST00000395319.3_Missense_Mutation_p.P265L	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	293					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					CCAGGGTCGGGGAAGGGGGCA	0.602000													6	66					0	0	0.001168	0	0
CBLB	868	broad.mit.edu	37	3	105586288	105586288	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:105586288G>A	ENST00000264122.4	-	2	455	c.134C>T	c.(133-135)aCc>aTc	p.T45I	CBLB_ENST00000403724.1_Missense_Mutation_p.T45I|CBLB_ENST00000394027.3_Missense_Mutation_p.T67I|CBLB_ENST00000545639.1_Missense_Mutation_p.T67I|CBLB_ENST00000405772.1_Missense_Mutation_p.T45I	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	45	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CTTCTCCACGGTCCTGCGATC	0.483000			Mis S		AML								9	89					0	0	0.000673	0	0
EXOSC10	5394	broad.mit.edu	37	1	11137440	11137440	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:11137440G>A	ENST00000544779.1	-	15	2023	c.2018C>T	c.(2017-2019)tCc>tTc	p.S673F	EXOSC10_ENST00000376936.4_Missense_Mutation_p.P621S|EXOSC10_ENST00000304457.7_Missense_Mutation_p.P621S			Q01780	EXOSX_HUMAN	exosome component 10	89					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GGGATGATTGGATAGCCATCC	0.527000													7	57					0	0	0.003080	0	0
OR5A2	219981	broad.mit.edu	37	11	59189496	59189496	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:59189496C>T	ENST00000302040.4	-	1	953	c.931G>A	c.(931-933)Ggg>Agg	p.G311R		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TGAGAAATCCCGGGGTCCCTT	0.413000													5	35					0	0	0.000602	0	0
OR2T12	127064	broad.mit.edu	37	1	248458301	248458301	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:248458301C>T	ENST00000317996.1	-	1	579	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ATGGCGTTTTCGAAGACTGAA	0.537000													5	48					0	0	0.000602	0	0
CARD11	84433	broad.mit.edu	37	7	2962835	2962835	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:2962835G>A	ENST00000396946.4	-	16	2476	c.2073C>T	c.(2071-2073)ttC>ttT	p.F691F		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	691	PDZ.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCGAGTGCACGAAGCTCCCTC	0.701000			Mis		DLBCL								5	33					0	0	0.001168	0	0
CEACAM20	125931	broad.mit.edu	37	19	45021286	45021286	+	RNA	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:45021286C>T	ENST00000454753.1	-	0	1309							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TCAGGACCATCTGTGTGTAAA	0.522000													8	98					0	0	0.003080	0	0
A2M	2	broad.mit.edu	37	12	9265009	9265009	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:9265009G>A	ENST00000318602.7	-	3	701	c.394C>T	c.(394-396)Cag>Tag	p.Q132*		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	132					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TTGTCTGTCTGGACAAAGACC	0.458000													4	18					0	0	0.000248	0	0
EPHA1	2041	broad.mit.edu	37	7	143095078	143095078	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:143095078C>T	ENST00000275815.3	-	8	1636	c.1550G>A	c.(1549-1551)cGa>cAa	p.R517Q		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	517	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GGTCAGCATTCGGACTCTGAC	0.557000													6	25					0	0	0.001168	0	0
SORBS2	8470	broad.mit.edu	37	4	186548105	186548105	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:186548105C>T	ENST00000431808.1	-	13	1366	c.803G>A	c.(802-804)gGc>gAc	p.G268D	SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000284776.7_Missense_Mutation_p.G268D|SORBS2_ENST00000418609.1_Missense_Mutation_p.G172D|SORBS2_ENST00000449407.2_Missense_Mutation_p.G339D|SORBS2_ENST00000355634.5_Missense_Mutation_p.G368D|SORBS2_ENST00000393528.3_Missense_Mutation_p.G361D|SORBS2_ENST00000448662.2_Missense_Mutation_p.G356D|SORBS2_ENST00000437304.2_Missense_Mutation_p.G519D|SORBS2_ENST00000319471.9_Missense_Mutation_p.G426D			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	268						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATCTCCCAAGCCCCGTGGTGG	0.542000													7	55					0	0	0.003080	0	0
GCN1L1	10985	broad.mit.edu	37	12	120582578	120582578	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:120582578G>A	ENST00000300648.6	-	41	5229	c.5217C>T	c.(5215-5217)atC>atT	p.I1739I		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1739					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGTAGCCACGATTTCTGGCA	0.507000													10	80					0	0	0.000978	0	0
TRIML1	339976	broad.mit.edu	37	4	189068223	189068223	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:189068223C>T	ENST00000332517.3	+	6	1244	c.1104C>T	c.(1102-1104)ctC>ctT	p.L368L	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	368	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AGGGGAATCTCCCCAAGCCAC	0.527000													6	57					0	0	0.001984	0	0
NACA	4666	broad.mit.edu	37	12	57111674	57111674	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:57111674G>A	ENST00000454682.1	-	3	3921	c.3640C>T	c.(3640-3642)Ccc>Tcc	p.P1214S	NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GCCCCTTTGGGGGATGGGGTA	0.637000			T	BCL6	NHL								9	62					0	0	0.000443	0	0
RPL10	6134	broad.mit.edu	37	X	153628232	153628232	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:153628232C>T	ENST00000424325.2	+	5	467	c.279C>T	c.(277-279)ccC>ccT	p.P93P	RPL10_ENST00000406022.2_Silent_p.P42P|RPL10_ENST00000369817.2_Silent_p.P93P	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN	ribosomal protein L10	93					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCTCCACCCCTTCCACGTCA	0.522000													5	27					0	0	0.001168	0	0
SLC23A2	9962	broad.mit.edu	37	20	4842594	4842594	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:4842594C>T	ENST00000379333.1	-	15	2016	c.1624_splice	c.e15+1	p.G542_splice	SLC23A2_ENST00000338244.1_Splice_Site_p.G542_splice|SLC23A2_ENST00000424750.2_Splice_Site_p.G428_splice	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	542					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ATTTCCTCACCTGTGACCAGA	0.517000													4	48					0	0	0.000248	0	0
ST18	9705	broad.mit.edu	37	8	53076622	53076622	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:53076622C>T	ENST00000276480.7	-	13	2007	c.1324G>A	c.(1324-1326)Gaa>Aaa	p.E442K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	442						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GCCAATTTTTCAGCTGCAGCA	0.418000													7	55					0	0	0.003080	0	0
CIT	11113	broad.mit.edu	37	12	120196485	120196485	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:120196485G>A	ENST00000392521.2	-	21	2496	c.2441C>T	c.(2440-2442)tCc>tTc	p.S814F	CIT_ENST00000261833.7_Missense_Mutation_p.S772F|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	772					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCTGATCTTGGAATCCATAGC	0.443000													5	70					0	0	0.000602	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604005	140604005	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:140604005G>A	ENST00000239449.4	+	1	928	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	PCDHB14_ENST00000515856.2_Missense_Mutation_p.E157K	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		310	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGATTTTGAAGTAATACA	0.343000													9	55					0	0	0.000443	0	0
NUP210	23225	broad.mit.edu	37	3	13363271	13363271	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:13363271C>T	ENST00000254508.5	-	36	5062	c.4980G>A	c.(4978-4980)atG>atA	p.M1660I		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1660					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTGTCTTCTTCATGCTCAGGT	0.592000													10	94					0	0	0.000673	0	0
MYF5	4617	broad.mit.edu	37	12	81111303	81111303	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:81111303C>T	ENST00000228644.3	+	1	613	c.461C>T	c.(460-462)tCg>tTg	p.S154L		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	154					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CAGAGCTGCTCGGAGCCCACC	0.542000													10	97					0	0	0.000978	0	0
DNAH7	56171	broad.mit.edu	37	2	196759894	196759894	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:196759894C>T	ENST00000312428.6	-	30	4802	c.4702G>A	c.(4702-4704)Gat>Aat	p.D1568N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1568					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCCAGCAAATCATTGTAATCT	0.323000													5	31					0	0	0.001984	0	0
SLC4A4	8671	broad.mit.edu	37	4	72222842	72222842	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:72222842C>T	ENST00000340595.3	+	3	732	c.536C>T	c.(535-537)tCc>tTc	p.S179F	SLC4A4_ENST00000425175.1_Missense_Mutation_p.S223F|SLC4A4_ENST00000264485.5_Missense_Mutation_p.S223F|SLC4A4_ENST00000351898.6_Missense_Mutation_p.S223F|SLC4A4_ENST00000512686.1_Missense_Mutation_p.S179F|SLC4A4_ENST00000514331.1_3'UTR	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	223						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			AACCTTCGGTCCCTGGCTGAC	0.483000													5	33					0	0	0.000602	0	0
FNDC1	84624	broad.mit.edu	37	6	159653040	159653040	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:159653040G>A	ENST00000297267.9	+	11	1696	c.1496G>A	c.(1495-1497)gGg>gAg	p.G499E	FNDC1_ENST00000340366.6_Missense_Mutation_p.G436E	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	499						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TCTCCCCAAGGGAGAAATGCC	0.552000													6	26					0	0	0.001984	0	0
OR3A2	4995	broad.mit.edu	37	17	3181816	3181816	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:3181816G>A	ENST00000408891.2	-	1	452	c.414C>T	c.(412-414)ccC>ccT	p.P138P		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	138					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						TGTAGGTGAGGGGCTGGCAGA	0.607000													4	29					0	0	0.001168	0	0
ZNF777	27153	broad.mit.edu	37	7	149133841	149133841	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:149133841G>A	ENST00000247930.4	-	5	1487	c.1164C>T	c.(1162-1164)ccC>ccT	p.P388P		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	388	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GTCCCATCAGGGGCTCAGGTG	0.597000													4	35					0	0	0.000248	0	0
GBA3	57733	broad.mit.edu	37	4	22749095	22749095	+	RNA	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:22749095G>A	ENST00000511446.1	+	0	466				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TACCTTTGGGGATCGTGTCAA	0.428000													11	62					0	0	0.001368	0	0
MISP	126353	broad.mit.edu	37	19	757082	757082	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:757082G>A	ENST00000215582.6	+	2	239	c.136G>A	c.(136-138)Gat>Aat	p.D46N		NM_173481.2	NP_775752.1			mitotic spindle positioning																		CTGGGGCCAGGATGAGCCGCA	0.682000													4	16					0	0	0.000248	0	0
CARD6	84674	broad.mit.edu	37	5	40853995	40853995	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:40853995C>T	ENST00000254691.5	+	3	2760	c.2561C>T	c.(2560-2562)tCc>tTc	p.S854F	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	854					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CACTCCTATTCCCTGGATTCA	0.502000													15	68					0	0	0.000958	0	0
ACSL5	51703	broad.mit.edu	37	10	114136199	114136199	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:114136199C>T	ENST00000356116.1	+	1	244	c.132C>T	c.(130-132)ccC>ccT	p.P44P	ACSL5_ENST00000479936.1_Intron|ACSL5_ENST00000393081.1_Intron|ACSL5_ENST00000354655.4_Intron|ACSL5_ENST00000433418.1_5'UTR|ACSL5_ENST00000354273.4_5'UTR	NM_016234.3	NP_057318.2	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	0					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		ATGCGGCCCCCTCGCAGGGTA	0.602000													5	43					0	0	0.000602	0	0
GJA1	2697	broad.mit.edu	37	6	121769008	121769008	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:121769008G>A	ENST00000282561.3	+	2	1172	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	339					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TGATTTCCCCGATGATAACCA	0.488000													5	51					0	0	0.000602	0	0
RNASE10	338879	broad.mit.edu	37	14	20978697	20978697	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:20978697C>T	ENST00000430083.1	+	2	555	c.151C>T	c.(151-153)Ctg>Ttg	p.L51L	RNASE10_ENST00000328444.5_Silent_p.L23L			Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	23						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		ggggatgggcctggggttggg	0.522000													5	69					0	0	0.001168	0	0
CCNE2	9134	broad.mit.edu	37	8	95894423	95894423	+	Silent	SNP	A	A	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:95894423A>G	ENST00000520509.1	-	11	1290	c.1038T>C	c.(1036-1038)ttT>ttC	p.F346F	CCNE2_ENST00000308108.4_Silent_p.F346F|CCNE2_ENST00000396133.3_Silent_p.F346F			O96020	CCNE2_HUMAN	cyclin E2	346					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GAATCTTCTTAAAAGTCTTCA	0.363000													26	296					0	0	0.005443	0	0
NR5A2	2494	broad.mit.edu	37	1	199996999	199996999	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:199996999G>A	ENST00000367362.3	+	1	270	c.24G>A	c.(22-24)ggG>ggA	p.G8G	NR5A2_ENST00000236914.3_Silent_p.G8G	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	8					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CAGATACTGGGGATTTACAAG	0.328000													5	38					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179569645	179569645	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179569645C>T	ENST00000589042.1	-	104	29877	c.29653G>A	c.(29653-29655)Gaa>Aaa	p.E9885K	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E9568K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E8641K|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9568	Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATACAAGTTCCTCAAATTCC	0.308000													6	116					0	0	0.001984	0	0
BCL11A	53335	broad.mit.edu	37	2	60688288	60688288	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:60688288C>T	ENST00000335712.6	-	4	1986	c.1759G>A	c.(1759-1761)Gaa>Aaa	p.E587K	BCL11A_ENST00000358510.4_Missense_Mutation_p.E553K|BCL11A_ENST00000538214.1_Missense_Mutation_p.E553K|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.E587K|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Missense_Mutation_p.E256K	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	587					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			ACCGAGTCTTCGTCGCAAGTG	0.672000			T	IGH@	B-CLL								8	104					0	0	0.003080	0	0
SI	6476	broad.mit.edu	37	3	164735569	164735569	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:164735569C>T	ENST00000264382.3	-	30	3675	c.3613G>A	c.(3613-3615)Gca>Aca	p.A1205T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1205	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGCTTTGTTGCAACTTCTGGA	0.323000										HNSCC(35;0.089)			4	11					0	0	0.000248	0	0
HDHD3	81932	broad.mit.edu	37	9	116136431	116136431	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:116136431G>A	ENST00000238379.5	-	2	1101	c.204C>T	c.(202-204)ggC>ggT	p.G68G	HDHD3_ENST00000374180.3_Silent_p.G68G|HDHD3_ENST00000485934.1_5'UTR	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	68							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						GGGAGGTTAGGCCGTGGCTCA	0.637000													5	26					0	0	0.000602	0	0
INF2	64423	broad.mit.edu	37	14	105181624	105181624	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:105181624T>C	ENST00000392634.4	+	22	3810	c.3698T>C	c.(3697-3699)gTt>gCt	p.V1233A	INF2_ENST00000330634.7_Intron	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1233					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GAAGCAGAGGTTCCCCCTGAT	0.552000													7	79					0	0	0.003080	0	0
BCORL1	63035	broad.mit.edu	37	X	129148255	129148255	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:129148255C>T	ENST00000540052.1	+	3	1551	c.1507C>T	c.(1507-1509)Ccg>Tcg	p.P503S	BCORL1_ENST00000359304.2_Missense_Mutation_p.P503S|BCORL1_ENST00000303743.5_Missense_Mutation_p.P503S|BCORL1_ENST00000218147.7_Missense_Mutation_p.P503S	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	503	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCGTTCTTACCCGTATGCATT	0.602000													5	113					0	0	0.000602	0	0
RYR3	6263	broad.mit.edu	37	15	33928596	33928596	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:33928596G>A	ENST00000389232.4	+	27	3471	c.3401G>A	c.(3400-3402)gGa>gAa	p.G1134E	RYR3_ENST00000415757.3_Missense_Mutation_p.G1134E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1134	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGCATCAAGGAAGTGGGTAT	0.498000													11	101					0	0	0.000978	0	0
HARS2	23438	broad.mit.edu	37	5	140076574	140076574	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:140076574C>T	ENST00000230771.3	+	9	1096	c.873C>T	c.(871-873)tcC>tcT	p.S291S	HARS2_ENST00000448069.2_Silent_p.S119S|HARS2_ENST00000435019.2_Silent_p.S251S|HARS2_ENST00000437649.2_Silent_p.S217S|HARS2_ENST00000508522.1_Silent_p.S266S|HARS2_ENST00000432671.2_Silent_p.S177S	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	291					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGACTATCCCAGAACAAGC	0.433000													11	116					0	0	0.002450	0	0
FAM13C	220965	broad.mit.edu	37	10	61112165	61112165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:61112165C>T	ENST00000277705.6	-	3	290	c.189G>A	c.(187-189)tgG>tgA	p.W63*	FAM13C_ENST00000468840.2_5'UTR|FAM13C_ENST00000419214.2_Nonsense_Mutation_p.W63*|FAM13C_ENST00000435852.2_Nonsense_Mutation_p.W63*|FAM13C_ENST00000422313.2_Nonsense_Mutation_p.W63*|FAM13C_ENST00000373868.2_Nonsense_Mutation_p.W63*|FAM13C_ENST00000373867.3_5'UTR|FAM13C_ENST00000442566.3_Nonsense_Mutation_p.W63*			Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	63										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCTGCGGCTCCCAAGAGGGCG	0.532000													4	26					0	0	0.000248	0	0
PRSS23	11098	broad.mit.edu	37	11	86519058	86519058	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:86519058C>T	ENST00000280258.5	+	2	798	c.373C>T	c.(373-375)Cga>Tga	p.R125*	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Nonsense_Mutation_p.R93*	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	125					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGGAAAGTCTCGAAGGAAGCG	0.522000													5	53					0	0	0.001984	0	0
DGKK	139189	broad.mit.edu	37	X	50129462	50129462	+	RNA	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:50129462G>A	ENST00000376025.2	-	0	2300							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GAGGAATGAAGGGCTTCCTAT	0.473000													4	30					0	0	0.000248	0	0
ZNF608	57507	broad.mit.edu	37	5	123983748	123983748	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:123983748G>A	ENST00000306315.5	-	4	2764	c.2329C>T	c.(2329-2331)Cag>Tag	p.Q777*	ZNF608_ENST00000504926.1_Nonsense_Mutation_p.Q350*	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	777						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GGTGTAGCCTGAACAACAGTT	0.532000													6	52					0	0	0.003080	0	0
CEBPZ	10153	broad.mit.edu	37	2	37455080	37455080	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:37455080A>G	ENST00000234170.5	-	2	1401	c.1256T>C	c.(1255-1257)gTt>gCt	p.V419A		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	419					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				ACCAGACACAACTCCTTTCAT	0.388000													9	83					0	0	0.000673	0	0
TSIX	9383	broad.mit.edu	37	X	73046700	73046700	+	RNA	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:73046700C>T	ENST00000604411.1	+	0	34661				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TCACAAGTCTCAGTTCTTAGG	0.512000													5	57					0	0	0.000602	0	0
GGT6	124975	broad.mit.edu	37	17	4461413	4461413	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:4461413G>A	ENST00000301395.3	-	3	1342	c.1283C>T	c.(1282-1284)cCc>cTc	p.P428L	GGT6_ENST00000573591.1_Missense_Mutation_p.P312L|GGT6_ENST00000574154.1_Missense_Mutation_p.P460L|GGT6_ENST00000381550.3_Missense_Mutation_p.P466L	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	460					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						ACAAGTGCTGGGATGCTCTGT	0.642000													4	27					0	0	0.000248	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159776679	159776679	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:159776679C>T	ENST00000393975.3	-	3	492	c.489G>A	c.(487-489)ggG>ggA	p.G163G		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	118	C1q.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCCATGCTTCCCGGGGGTAC	0.682000													7	41					0	0	0.001984	0	0
VPRBP	9730	broad.mit.edu	37	3	51475813	51475813	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:51475813G>A	ENST00000335891.5	-	6	623	c.614C>T	c.(613-615)cCc>cTc	p.P205L				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	205					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		AGGCAAAAGGGGTTCAGAAGA	0.527000													5	90					0	0	0.001168	0	0
INTS5	80789	broad.mit.edu	37	11	62415846	62415846	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:62415846G>A	ENST00000330574.2	-	2	1758	c.1706C>T	c.(1705-1707)cCc>cTc	p.P569L		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	569					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GGCCGTGAAGGGAGGCTGTAA	0.627000													4	42					0	0	0.000602	0	0
SGCZ	137868	broad.mit.edu	37	8	13965739	13965739	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:13965739C>T	ENST00000382080.1	-	6	1268	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	SGCZ_ENST00000421524.2_Missense_Mutation_p.E138K	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	172					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		p.E185K(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		ACGGCTCCTTCAGTGCCTGGG	0.468000													4	15					0	0	0.000248	0	0
SEL1L3	23231	broad.mit.edu	37	4	25785899	25785899	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:25785899T>G	ENST00000399878.3	-	14	2353	c.2231A>C	c.(2230-2232)aAa>aCa	p.K744T	SEL1L3_ENST00000264868.5_Missense_Mutation_p.K709T|SEL1L3_ENST00000502949.1_Missense_Mutation_p.K591T	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	744						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TCTGTTCTTTTTTACTCCTTG	0.403000													12	133					0	0	0.004990	0	0
C1orf116	79098	broad.mit.edu	37	1	207195309	207195309	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:207195309C>T	ENST00000359470.5	-	4	2049	c.1800G>A	c.(1798-1800)aaG>aaA	p.K600K	C1orf116_ENST00000461135.2_Silent_p.K354K	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	600						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GAGTCTACTCCTTCAACAGTC	0.562000													5	37					0	0	0.000602	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526253	176526253	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:176526253C>T	ENST00000367662.3	+	2	1959	c.795C>T	c.(793-795)ttC>ttT	p.F265F	PAPPA2_ENST00000367661.3_Silent_p.F265F	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	265					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTTATACTTCTCTGGGAGGC	0.572000													5	30					0	0	0.000602	0	0
TMEM67	91147	broad.mit.edu	37	8	94809438	94809438	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:94809438G>A	ENST00000453321.3	+	19	1995	c.1937G>A	c.(1936-1938)gGa>gAa	p.G646E	TMEM67_ENST00000409623.3_Missense_Mutation_p.G565E	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	646					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			CGACCTAAAGGAAAGGTTCTT	0.328000													5	37					0	0	0.000602	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951413	30951413	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr22:30951413A>C	ENST00000402321.1	-	3	1116	c.799T>G	c.(799-801)Tgc>Ggc	p.C267G	GAL3ST1_ENST00000443111.2_Missense_Mutation_p.C267G|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.C267G|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.C267G|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.C267G|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.C267G|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.C267G			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	267					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						AGCTCCCAGCACAGCAGGTCC	0.662000													4	39					0	0	0.000248	0	0
C2orf80	389073	broad.mit.edu	37	2	209046029	209046029	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:209046029C>T	ENST00000341287.4	-	5	402	c.206_splice	c.e5-1	p.L69_splice	C2orf80_ENST00000451346.1_Splice_Site_p.L50_splice|C2orf80_ENST00000453017.1_Splice_Site_p.L69_splice	NM_001099334.2	NP_001092804.1	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	69										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						GTGGTATTTTCCTAATGGGGA	0.363000													7	28					0	0	0.004482	0	0
MYT1L	23040	broad.mit.edu	37	2	1805528	1805528	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:1805528G>A	ENST00000399161.2	-	23	3963	c.3216C>T	c.(3214-3216)atC>atT	p.I1072I	MYT1L_ENST00000428368.2_Silent_p.I1070I|MYT1L_ENST00000407844.1_Silent_p.I68I	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1072					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTAGCTCCTTGATTTCTTCAT	0.313000													11	110					0	0	0.001855	0	0
GPR112	139378	broad.mit.edu	37	X	135431576	135431576	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:135431576C>T	ENST00000394143.1	+	6	6002	c.5711C>T	c.(5710-5712)tCc>tTc	p.S1904F	GPR112_ENST00000412101.1_Missense_Mutation_p.S1699F|GPR112_ENST00000394141.1_Missense_Mutation_p.S1699F|GPR112_ENST00000370652.1_Missense_Mutation_p.S1904F|GPR112_ENST00000287534.4_Missense_Mutation_p.S1841F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1904					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTACCTACATCCAATGAGATG	0.433000													8	42					0	0	0.000673	0	0
DQX1	165545	broad.mit.edu	37	2	74750029	74750029	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:74750029C>T	ENST00000404568.3	-	7	1476	c.1257G>A	c.(1255-1257)agG>agA	p.R419R	DQX1_ENST00000393951.2_Silent_p.R419R	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	419	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CAATCTGTCTCCTTTTTAGTA	0.527000													6	64					0	0	0.001168	0	0
CADPS	8618	broad.mit.edu	37	3	62477975	62477975	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:62477975G>A	ENST00000383710.4	-	20	3223	c.2874C>T	c.(2872-2874)ctC>ctT	p.L958L	CADPS_ENST00000357948.3_Silent_p.L928L|CADPS_ENST00000283269.9_Silent_p.L968L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	958	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AGTCAGTACGGAGAAAATCAT	0.433000													7	93					0	0	0.004482	0	0
SYNE2	23224	broad.mit.edu	37	14	64496705	64496705	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:64496705C>T	ENST00000358025.3	+	44	7037	c.6807C>T	c.(6805-6807)tcC>tcT	p.S2269S	SYNE2_ENST00000554584.1_Silent_p.S2269S|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.S2269S	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2269					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACAATTTCTCCAAGGAATTTG	0.408000													4	18					0	0	0.000248	0	0
PPP6C	5537	broad.mit.edu	37	9	127920551	127920551	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:127920551A>T	ENST00000451402.1	-	5	679	c.459T>A	c.(457-459)agT>agA	p.S153R	PPP6C_ENST00000373547.4_Missense_Mutation_p.S116R|PPP6C_ENST00000415905.1_Missense_Mutation_p.S94R|PPP6C_ENST00000373546.3_Intron	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	116					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TTATCTGTCTACTCTCATGAT	0.353000													11	91					0	0	0.000978	0	0
ATRX	546	broad.mit.edu	37	X	76939391	76939391	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:76939391C>T	ENST00000373344.5	-	9	1571	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.E415K	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	453					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCCTTCTTTTCCAAAGCACAA	0.353000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						12	149					0	0	0.001855	0	0
GARNL3	84253	broad.mit.edu	37	9	130075766	130075766	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:130075766C>T	ENST00000373387.4	+	4	718	c.366C>T	c.(364-366)ttC>ttT	p.F122F	GARNL3_ENST00000314904.5_Silent_p.F122F|GARNL3_ENST00000435213.2_Silent_p.F100F	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	122					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GCCCTTTCTTCTTGTCCGTGA	0.443000													6	48					0	0	0.001984	0	0
ATP1A2	477	broad.mit.edu	37	1	160105690	160105690	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:160105690C>T	ENST00000361216.3	+	17	2435	c.2346C>T	c.(2344-2346)ccC>ccT	p.P782P	ATP1A2_ENST00000392233.3_Silent_p.P782P|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	782					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCAACATCCCCGAGATCACCC	0.557000													4	28					0	0	0.000248	0	0
GPR115	221393	broad.mit.edu	37	6	47682245	47682245	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:47682245A>T	ENST00000283303.2	+	6	1522	c.1264A>T	c.(1264-1266)Att>Ttt	p.I422F	GPR115_ENST00000327753.3_Missense_Mutation_p.I422F|GPR115_ENST00000371220.1_Missense_Mutation_p.I479F	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	422					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TTGCCTGATCATTGAAGCCAC	0.493000													4	66					0	0	0.000602	0	0
GRM3	2913	broad.mit.edu	37	7	86469069	86469069	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:86469069C>T	ENST00000361669.2	+	4	3338	c.2239C>T	c.(2239-2241)Ctg>Ttg	p.L747L	GRM3_ENST00000546348.1_Silent_p.L339L|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Silent_p.L619L	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	747					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CGATGTGATCCTGGTGATCTT	0.448000													6	28					0	0	0.003080	0	0
ATP8B4	79895	broad.mit.edu	37	15	50212512	50212512	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:50212512C>T	ENST00000284509.6	-	18	1995	c.1854G>A	c.(1852-1854)gcG>gcA	p.A618A	ATP8B4_ENST00000559829.1_Silent_p.A618A	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	618					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGGCAGCATTCGCATCTTCAA	0.448000													9	66					0	0	0.000443	0	0
USP25	29761	broad.mit.edu	37	21	17246820	17246820	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr21:17246820C>T	ENST00000285681.2	+	23	3239	c.2870C>T	c.(2869-2871)tCa>tTa	p.S957L	USP25_ENST00000400183.2_Missense_Mutation_p.S995L|USP25_ENST00000285679.6_Missense_Mutation_p.S925L|USP25_ENST00000351097.5_Missense_Mutation_p.S320L			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	925					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GAATTGATATCACATTATAGA	0.328000													6	74					0	0	0.001984	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617227	77617227	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:77617227C>T	ENST00000521891.2	+	2	1352	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R302W|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R302W|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R302W	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	302						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCATGATCATCGGATGACCCT	0.423000										HNSCC(33;0.089)			5	60					0	0	0.000602	0	0
VPS13C	54832	broad.mit.edu	37	15	62239485	62239485	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:62239485C>T	ENST00000261517.5	-	43	4856	c.4783G>A	c.(4783-4785)Gat>Aat	p.D1595N	VPS13C_ENST00000249837.3_Missense_Mutation_p.D1552N|VPS13C_ENST00000395896.4_Missense_Mutation_p.D1595N|VPS13C_ENST00000395898.3_Missense_Mutation_p.D1552N	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1595					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCAAACACATCCTTTTGGGAA	0.313000													7	57					0	0	0.001984	0	0
ZFHX3	463	broad.mit.edu	37	16	72829865	72829865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:72829865C>T	ENST00000268489.5	-	9	7388	c.6716G>A	c.(6715-6717)tGg>tAg	p.W2239*	ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.W1325*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2239					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTGCTTCCCCAGTACTCCTG	0.512000													8	72					0	0	0.003080	0	0
FAT4	79633	broad.mit.edu	37	4	126411106	126411106	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:126411106C>T	ENST00000394329.3	+	17	13142	c.13129C>T	c.(13129-13131)Cct>Tct	p.P4377S	FAT4_ENST00000335110.5_Missense_Mutation_p.P2618S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4377	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGAAAGTCTTCCTTTCAGCGG	0.458000													8	96					0	0	0.003080	0	0
CLEC4F	165530	broad.mit.edu	37	2	71039588	71039588	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:71039588C>T	ENST00000272367.2	-	5	1606	c.1530G>A	c.(1528-1530)aaG>aaA	p.K510K	CLEC4F_ENST00000426626.1_Silent_p.K510K	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	510	C-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CCTGCTCCTCCTTGGAGGCCA	0.517000													5	25					0	0	0.001168	0	0
SIDT1	54847	broad.mit.edu	37	3	113286433	113286433	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:113286433C>T	ENST00000264852.4	+	3	1117	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S	SIDT1_ENST00000393830.3_Missense_Mutation_p.P131S	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	131						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CACCTTATGTCCCTCAGAAGC	0.473000													5	56					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179638755	179638755	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179638755G>A	ENST00000589042.1	-	31	7364	c.7140C>T	c.(7138-7140)tcC>tcT	p.S2380S	TTN_ENST00000360870.5_Silent_p.S2380S|TTN_ENST00000591111.1_Silent_p.S2380S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.S2380S|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Silent_p.S2334S|TTN_ENST00000460472.2_Silent_p.S2334S|TTN_ENST00000359218.5_Silent_p.S2334S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2103	Ig-like 13.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTTTCCAAGGAGACTTTAA	0.473000													6	38					0	0	0.001168	0	0
PLXNA1	5361	broad.mit.edu	37	3	126708270	126708270	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:126708270C>T	ENST00000251772.4	+	1	834	c.765C>T	c.(763-765)ttC>ttT	p.F255F	PLXNA1_ENST00000393409.2_Silent_p.F278F			Q9UIW2	PLXA1_HUMAN	plexin A1	278	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGCACTTCTTCACGTCCAAGA	0.587000													7	71					0	0	0.001984	0	0
SCGN	10590	broad.mit.edu	37	6	25670232	25670232	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:25670232C>T	ENST00000377961.2	+	6	567	c.399C>T	c.(397-399)ttC>ttT	p.F133F	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	133	EF-hand 3.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CACAGAACTTCCTCCGAGACC	0.398000													6	157					0	0	0.001984	0	0
SERPING1	710	broad.mit.edu	37	11	57373926	57373926	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:57373926C>T	ENST00000403558.1	+	5	1430	c.1064C>T	c.(1063-1065)cCc>cTc	p.P355L	SERPING1_ENST00000378323.4_Missense_Mutation_p.P317L|SERPING1_ENST00000378324.2_Missense_Mutation_p.P260L|SERPING1_ENST00000340687.6_Missense_Mutation_p.P312L|SERPING1_ENST00000278407.4_Missense_Mutation_p.P312L	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	312					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						AGAATGGAACCCTTTCACTTC	0.433000													4	55					0	0	0.000248	0	0
MYO3B	140469	broad.mit.edu	37	2	171256785	171256785	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:171256785G>A	ENST00000334231.6	+	17	1906	c.1906G>A	c.(1906-1908)Gat>Aat	p.D636N	MYO3B_ENST00000409044.3_Missense_Mutation_p.D627N|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.D627N			Q8WXR4	MYO3B_HUMAN	myosin IIIB	627	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ACATCAGACTGATAAAAGTGA	0.418000													7	74					0	0	0.003080	0	0
MMP13	4322	broad.mit.edu	37	11	102819754	102819754	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:102819754C>T	ENST00000260302.3	-	7	1079	c.1051_splice	c.e7+1	p.G351_splice	MMP13_ENST00000340273.4_Splice_Site_p.G351_splice	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	351	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GAAAGCTTACCTCTGAAGATG	0.438000													4	26					0	0	0.000602	0	0
FLG	2312	broad.mit.edu	37	1	152281481	152281481	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:152281481G>A	ENST00000368799.1	-	3	5916	c.5881C>T	c.(5881-5883)Cac>Tac	p.H1961Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1961	Ser-rich.		H -> Q (in dbSNP:rs3126079).		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCTTCGTGATGGGACCCA	0.572000									Ichthyosis				15	176					0	0	0.002450	0	0
OR2W5	441932	broad.mit.edu	37	1	247654686	247654686	+	RNA	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:247654686G>A	ENST00000522351.1	+	0	317							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGGAACCTGGGGGGTCCAGAG	0.542000													5	27					0	0	0.000602	0	0
GLIPR1	11010	broad.mit.edu	37	12	75874693	75874693	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:75874693G>A	ENST00000266659.3	+	1	234	c.33G>A	c.(31-33)atG>atA	p.M11I		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	11					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						TAGCCTGGATGGTTTCTTTTG	0.453000													7	25					0	0	0.003080	0	0
AFF3	3899	broad.mit.edu	37	2	100623280	100623280	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:100623280C>T	ENST00000317233.4	-	6	922	c.687G>A	c.(685-687)caG>caA	p.Q229Q	AFF3_ENST00000356421.2_Silent_p.Q254Q|AFF3_ENST00000409579.1_Silent_p.Q254Q|AFF3_ENST00000409236.1_Silent_p.Q229Q	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	229					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGGTCGGTTTCTGCTGGACCA	0.577000													4	27					0	0	0.000602	0	0
C10orf2	56652	broad.mit.edu	37	10	102749612	102749612	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:102749612C>T	ENST00000370228.1	+	2	1640	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F	C10orf2_ENST00000473656.1_3'UTR|C10orf2_ENST00000311916.2_Silent_p.F485F	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	485	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CCCTCTATTTCATGACTTTCC	0.532000													7	78					0	0	0.000443	0	0
PRPF4B	8899	broad.mit.edu	37	6	4032432	4032432	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:4032432C>T	ENST00000337659.6	+	2	781	c.681C>T	c.(679-681)tcC>tcT	p.S227S	PRPF4B_ENST00000538861.1_Silent_p.S213S	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	227	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AAAGCCCATCCAAAAGAAGTA	0.388000													11	131					0	0	0.001855	0	0
PHF8	23133	broad.mit.edu	37	X	54020143	54020143	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:54020143C>T	ENST00000338154.6	-	13	2021	c.1517G>A	c.(1516-1518)cGa>cAa	p.R506Q	PHF8_ENST00000357988.5_Missense_Mutation_p.R542Q|PHF8_ENST00000338946.6_Intron|PHF8_ENST00000322659.8_Missense_Mutation_p.R506Q	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	542					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CTTGCCCTTTCGCTCTGCCTT	0.512000													6	40					0	0	0.001168	0	0
NEK8	284086	broad.mit.edu	37	17	27061926	27061926	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:27061926G>A	ENST00000268766.6	+	3	424	c.390G>A	c.(388-390)aaG>aaA	p.K130K	AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	130	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GAGACCTCAAGACCCAGAACA	0.547000													7	57					0	0	0.000443	0	0
TMEM168	64418	broad.mit.edu	37	7	112423814	112423814	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:112423814G>A	ENST00000312814.5	-	2	1627	c.1067C>T	c.(1066-1068)tCa>tTa	p.S356L	TMEM168_ENST00000454074.1_Missense_Mutation_p.S356L	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	356						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						CAACTGCTCTGAAATCAAGCA	0.413000													10	106					0	0	0.000673	0	0
TMTC3	160418	broad.mit.edu	37	12	88560199	88560199	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:88560199C>T	ENST00000266712.6	+	7	1110	c.890C>T	c.(889-891)cCt>cTt	p.P297L		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	297						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TTATTAAATCCTTCAGAGCTC	0.393000													7	51					0	0	0.001984	0	0
RSPO1	284654	broad.mit.edu	37	1	38078484	38078484	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:38078484C>T	ENST00000356545.2	-	8	1522	c.735G>A	c.(733-735)caG>caA	p.Q245Q	RSPO1_ENST00000401071.2_Silent_p.Q182Q|RSPO1_ENST00000373059.1_Silent_p.Q218Q|RSPO1_ENST00000401068.1_Silent_p.Q245Q|RSPO1_ENST00000401069.1_Silent_p.Q245Q|RSPO1_ENST00000401070.1_Silent_p.Q182Q	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	245					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTGCTGTTGCTGCCCCTTGC	0.642000													5	42					0	0	0.000602	0	0
NAA15	80155	broad.mit.edu	37	4	140272705	140272705	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:140272705C>T	ENST00000296543.5	+	9	1277	c.954C>T	c.(952-954)ttC>ttT	p.F318F	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Silent_p.F318F	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	318					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GGATGAATTTCAGCAAGGGTT	0.313000													6	107					0	0	0.004482	0	0
HEPH	9843	broad.mit.edu	37	X	65417617	65417617	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:65417617C>T	ENST00000519389.1	+	10	1935	c.1756C>T	c.(1756-1758)Cct>Tct	p.P586S	HEPH_ENST00000343002.2_Missense_Mutation_p.P532S|HEPH_ENST00000374727.3_Missense_Mutation_p.P535S|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000336279.5_Missense_Mutation_p.P265S|HEPH_ENST00000441993.2_Missense_Mutation_p.P535S			Q9BQS7	HEPH_HUMAN	hephaestin	532	Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TGCTCAGGATCCTGCTTGTCT	0.562000													4	33					0	0	0.000248	0	0
COPS2	9318	broad.mit.edu	37	15	49426226	49426226	+	Nonsense_Mutation	SNP	A	A	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:49426226A>C	ENST00000388901.5	-	8	868	c.795T>G	c.(793-795)taT>taG	p.Y265*	COPS2_ENST00000542928.1_Nonsense_Mutation_p.Y201*|COPS2_ENST00000299259.6_Nonsense_Mutation_p.Y272*	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	265	PCI.				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		CAGATTCATCATAATTCTTGA	0.373000													4	40					0	0	0.000248	0	0
DLG2	1740	broad.mit.edu	37	11	84996410	84996410	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:84996410C>T	ENST00000376104.2	-	4	352		c.e4-1		DLG2_ENST00000543673.1_Splice_Site	NM_001142699.1	NP_001136171.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)							cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCTTGGATATCTGTAAAGAAA	0.318000													5	38					0	0	0.001984	0	0
SALL1	6299	broad.mit.edu	37	16	51173664	51173664	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:51173664G>A	ENST00000440970.1	-	2	2609	c.2178C>T	c.(2176-2178)aaC>aaT	p.N726N	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Silent_p.N823N|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	823					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CATCAGAGAAGTTGTCTAGGT	0.507000													9	104					0	0	0.000673	0	0
GRIK2	2898	broad.mit.edu	37	6	102307216	102307216	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:102307216C>T	ENST00000369138.1	+	10	1862	c.1372C>T	c.(1372-1374)Cga>Tga	p.R458*	GRIK2_ENST00000421544.1_Nonsense_Mutation_p.R458*|GRIK2_ENST00000413795.1_Nonsense_Mutation_p.R458*|GRIK2_ENST00000318991.6_Nonsense_Mutation_p.R458*|GRIK2_ENST00000369134.4_Nonsense_Mutation_p.R409*|GRIK2_ENST00000369137.3_Nonsense_Mutation_p.R458*	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	458					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R458*(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TGGTAATGATCGATTTGAAGG	0.363000													8	39					0	0	0.004482	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734766	12734766	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:12734766G>A	ENST00000380682.1	+	15	2694	c.2188G>A	c.(2188-2190)Ggg>Agg	p.G730R		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	730					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.G720R(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GGCCGCGGAGGGGATCGAGGA	0.557000													9	101					0	0	0.000673	0	0
SLC22A7	10864	broad.mit.edu	37	6	43267408	43267408	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:43267408C>T	ENST00000372585.5	+	4	642	c.547C>T	c.(547-549)Ctg>Ttg	p.L183L	SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372574.3_Silent_p.L181L|SLC22A7_ENST00000372589.3_Silent_p.L181L	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	183						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CGTGAGTACCCTGGTGCTGGG	0.582000													8	81					0	0	0.000673	0	0
ACAD10	80724	broad.mit.edu	37	12	112186823	112186823	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:112186823C>T	ENST00000392636.2	+	17	2671	c.1459C>T	c.(1459-1461)Ctg>Ttg	p.L487L	ACAD10_ENST00000313698.4_Intron|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000455480.2_Intron			Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	0							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						AGGCTGTTTCCTGCCGTCCTT	0.393000													5	29					0	0	0.000602	0	0
ANK3	288	broad.mit.edu	37	10	61830309	61830309	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:61830309C>T	ENST00000280772.1	-	37	10521	c.10330G>A	c.(10330-10332)Gat>Aat	p.D3444N	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3444					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCCAGATATCTTTCTTAATT	0.453000													4	34					0	0	0.000602	0	0
DAXX	1616	broad.mit.edu	37	6	33289292	33289292	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:33289292A>T	ENST00000374542.5	-	3	464	c.260T>A	c.(259-261)tTc>tAc	p.F87Y	DAXX_ENST00000477162.1_Intron|DAXX_ENST00000414083.2_Missense_Mutation_p.F12Y|DAXX_ENST00000266000.6_Missense_Mutation_p.F87Y	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	87	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GTTATAGAGGAATGGGACCAC	0.572000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								6	58					0	0	0.001984	0	0
PDGFRA	5156	broad.mit.edu	37	4	55136834	55136834	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:55136834G>A	ENST00000257290.5	+	8	1487	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	386	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CCGTGCTAAGGAAGAAGACAG	0.338000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			5	62					0	0	0.000602	0	0
CCR5	1234	broad.mit.edu	37	3	46415421	46415421	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:46415421C>T	ENST00000343801.4	+	3	1385	c.1028C>T	c.(1027-1029)aCt>aTt	p.T343I	CCR5_ENST00000292303.4_Missense_Mutation_p.T343I|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000445772.1_Missense_Mutation_p.T343I	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	343					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	ACCCGATCCACTGGGGAGCAG	0.512000													5	38					0	0	0.000602	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303925	151303925	+	Silent	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:151303925G>A	ENST00000370323.4	-	4	484	c.168C>T	c.(166-168)tcC>tcT	p.S56S	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Silent_p.S56S	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	56	Poly-Ser.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					aggaggaagaggaggaggagg	0.557000													5	72					0	0	0.001168	0	0
KLK8	11202	broad.mit.edu	37	19	51503514	51503514	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:51503514C>T	ENST00000600767.1	-	5	720	c.230_splice	c.e5-1	p.P77_splice	KLK8_ENST00000320838.5_Intron|KLK8_ENST00000291726.7_Splice_Site_p.P77_splice|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000391806.2_Splice_Site_p.P122_splice			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	77	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		CTGTGTATTTCCTGTAATGGT	0.557000													5	73					0	0	0.001168	0	0
WIPF1	7456	broad.mit.edu	37	2	175439971	175439971	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:175439971C>T	ENST00000392547.2	-	4	418	c.319G>A	c.(319-321)Gga>Aga	p.G107R	AC018890.6_ENST00000442996.1_RNA|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.G107R|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409415.3_Missense_Mutation_p.G107R|WIPF1_ENST00000392546.2_Missense_Mutation_p.G107R|WIPF1_ENST00000359761.3_Missense_Mutation_p.G107R|WIPF1_ENST00000410117.1_Missense_Mutation_p.G107R|WIPF1_ENST00000409891.1_Missense_Mutation_p.G107R	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	107					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TTCGGCATTCCAGCCTGGAAC	0.582000													8	86					0	0	0.000443	0	0
HP	3240	broad.mit.edu	37	16	72094674	72094674	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:72094674G>A	ENST00000355906.5	+	7	1164	c.1106G>A	c.(1105-1107)tGg>tAg	p.W369*	HP_ENST00000398131.2_Nonsense_Mutation_p.W310*|HP_ENST00000565574.1_Nonsense_Mutation_p.W310*|HP_ENST00000570083.1_Nonsense_Mutation_p.W310*|HP_ENST00000562526.1_3'UTR|HPR_ENST00000356967.5_Intron	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	369	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		GAGGACACCTGGTATGCGACT	0.527000													8	50					0	0	0.000443	0	0
TMEM217	221468	broad.mit.edu	37	6	37186316	37186316	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:37186316G>A	ENST00000336655.2	-	2	530	c.491C>T	c.(490-492)tCc>tTc	p.S164F	TMEM217_ENST00000356757.2_Missense_Mutation_p.S164F|TMEM217_ENST00000497775.1_Intron	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	164						integral to membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						TCTCTTGTAGGAAATTATATT	0.443000													14	88					0	0	0.001855	0	0
CAPN6	827	broad.mit.edu	37	X	110494810	110494810	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:110494810C>T	ENST00000324068.1	-	6	1027	c.860G>A	c.(859-861)gGa>gAa	p.G287E	CAPN6_ENST00000541758.1_Missense_Mutation_p.G32E	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	287	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TTCCTGTCTTCCCAAGGGGTT	0.488000													8	100					0	0	0.003080	0	0
PARM1	25849	broad.mit.edu	37	4	75937875	75937875	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:75937875C>T	ENST00000307428.7	+	2	496	c.284C>T	c.(283-285)tCg>tTg	p.S95L	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	95					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						AGCCCAGGTTCGAATTGGGAA	0.527000													5	37					0	0	0.001168	0	0
OR5K3	403277	broad.mit.edu	37	3	98110187	98110187	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:98110187G>A	ENST00000383695.1	+	1	678	c.678G>A	c.(676-678)atG>atA	p.M226I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TATTTACAATGAAATCCAAGG	0.343000													6	44					0	0	0.001984	0	0
PCSK5	5125	broad.mit.edu	37	9	78973740	78973740	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:78973740G>A	ENST00000545128.1	+	37	6023	c.5485G>A	c.(5485-5487)Gat>Aat	p.D1829N		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	646					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CATGGGCCAGGATGGCACAGT	0.458000													10	74					0	0	0.000673	0	0
GPR111	222611	broad.mit.edu	37	6	47649528	47649528	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:47649528G>A	ENST00000398742.2	+	5	1078	c.1029G>A	c.(1027-1029)atG>atA	p.M343I	GPR111_ENST00000296862.1_Missense_Mutation_p.M411I|GPR111_ENST00000507065.1_Missense_Mutation_p.M343I			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	411					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CCTGCAAAATGATTCAAGAAA	0.448000													8	57					0	0	0.003080	0	0
TENM4	26011	broad.mit.edu	37	11	78423558	78423558	+	Silent	SNP	C	C	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:78423558C>T	ENST00000278550.7	-	26	4485	c.4023G>A	c.(4021-4023)aaG>aaA	p.K1341K		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CTTCTGTGGCCTTCCCACCAT	0.517000													4	51					0	0	0.000248	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186915848	186915849	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:186915848_186915849insT	ENST00000367466.3	+	11	1265_1266	c.1113_1114insT	c.(1111-1116)aattttfs	p.NF371fs	PLA2G4A_ENST00000442353.2_Frame_Shift_Ins_p.NF311fs	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	371	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TTGGAAGCAAATTTTTTATGGG	0.322													7	26	---	---	---	---					
RFC2	5982	broad.mit.edu	37	7	73654277	73654277	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:73654277delG	ENST00000055077.3	-	7	744	c.684delC	c.(682-684)gafs	p.D228fs	RFC2_ENST00000352131.3_Frame_Shift_Del_p.D194fs	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	228					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						CCTGCCTCATGTCTCCCTGGG	0.582													2	4	---	---	---	---					
FZD1	8321	broad.mit.edu	37	7	90894242	90894243	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:90894242_90894243delGC	ENST00000287934.2	+	1	460_461	c.47_48delGC	c.(46-48)gfs	p.G16fs		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	16					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GCCGGCGGTGGCGCGAGCTGGG	0.762													2	4	---	---	---	---					
SNAPC4	6621	broad.mit.edu	37	9	139277995	139277997	+	In_Frame_Del	DEL	GCT	GCT	-	rs34222232		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:139277995_139277997delGCT	ENST00000298532.2	-	15	1992_1994	c.1624_1626delAGC	c.(1624-1626)del	p.S542del		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	542					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.S542delS(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGTCCTCCTCgctgctgctgctg	0.690													7	5	---	---	---	---					
FAM86C2P	645332	broad.mit.edu	37	11	67559606	67559607	+	RNA	DEL	TC	TC	-			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:67559606_67559607delTC	ENST00000528089.1	-	0	2143_2144																											GGACCTGGGGTCAGCCAGGTGG	0.545													2	4	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20138376	20138376	+	RNA	DEL	G	G	-	rs57620493		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:20138376delG	ENST00000548261.1	+	0	391																											ACAaaagaaagaaagaaagaa	0.388													5	9	---	---	---	---					
TRAV9-2	28677	broad.mit.edu	37	14	22409533	22409539	+	RNA	DEL	CTCTCTC	CTCTCTC	-	rs57759840		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:22409533_22409539delCTCTCTC	ENST00000390441.2	+	0	102																											ctctctctctctctctctTTTTTTTTT	0.415													3	5	---	---	---	---					
IL9RP3	729486	broad.mit.edu	37	16	81973	81974	+	RNA	INS	-	-	GTCC			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:81973_81974insGTCC	ENST00000568710.1	-	0	349																											ATCAGCAGGAGGCCCACCTCGT	0.614													6	11	---	---	---	---					
HMHA1	23526	broad.mit.edu	37	19	1078032	1078032	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:1078032delG	ENST00000313093.2	+	11	1593	c.1362delG	c.(1360-1362)gafs	p.E454fs	HMHA1_ENST00000590214.1_Frame_Shift_Del_p.E481fs|HMHA1_ENST00000590577.1_Frame_Shift_Del_p.E89fs|HMHA1_ENST00000536472.1_Frame_Shift_Del_p.E294fs|HMHA1_ENST00000586866.1_Frame_Shift_Del_p.E458fs|HMHA1_ENST00000543365.1_Frame_Shift_Del_p.E337fs|HMHA1_ENST00000539243.2_Frame_Shift_Del_p.E470fs	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	454					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGGAGGAGGCCAAGAACA	0.647													2	4	---	---	---	---