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
ADAM11	4185	broad.mit.edu	37	17	42851922	42851922	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr17:42851922G>T	ENST00000200557.6	+	13	1309	c.1140G>T	c.(1138-1140)atG>atT	p.M380I	ADAM11_ENST00000535346.1_Missense_Mutation_p.M180I	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	380	Peptidase M12B.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				ACCTGGGCATGATGTGGAACA	0.647000													22	32					1.10513e-12	1.72807e-12	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141264397	141264397	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:141264397C>A	ENST00000389484.3	-	53	9460	c.8489G>T	c.(8488-8490)tGt>tTt	p.C2830F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2830	LDL-receptor class A 18.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCCATCTCCACAGTCGTCATC	0.388000										TSP Lung(27;0.18)			22	67					2.70639e-06	3.29236e-06	1	1	0
CCDC40	55036	broad.mit.edu	37	17	78061505	78061505	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr17:78061505A>T	ENST00000397545.4	+	15	2576	c.2549A>T	c.(2548-2550)aAc>aTc	p.N850I	CCDC40_ENST00000374877.3_Missense_Mutation_p.N850I	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	850					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ATGAATAAAAACCGGTGCAGC	0.562000													59	33					0	0	1	0	0
SCARNA2	677766	broad.mit.edu	37	1	109643148	109643148	+	RNA	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:109643148G>T	ENST00000458748.1	+	0	334					NR_003023.1																						GCCCTGCGGGGCCCGGCGCTC	0.687000													24	23					7.07758e-08	9.20085e-08	1	1	0
SERPINA9	327657	broad.mit.edu	37	14	94936123	94936123	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr14:94936123A>G	ENST00000337425.5	-	2	183	c.109T>C	c.(109-111)Tac>Cac	p.Y37H	SERPINA9_ENST00000380365.3_Missense_Mutation_p.Y19H|SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000539349.1_5'UTR|SERPINA9_ENST00000298845.7_Missense_Mutation_p.Y37H|SERPINA9_ENST00000546329.1_Intron	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	19					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GACACACAGTAGATTGGAGCA	0.517000													30	60					0	0	1	0	0
GTF2H1	2965	broad.mit.edu	37	11	18363155	18363155	+	Splice_Site	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:18363155G>T	ENST00000265963.4	+	7	997		c.e7+1		GTF2H1_ENST00000524753.4_Splice_Site|GTF2H1_ENST00000534641.1_Splice_Site|GTF2H1_ENST00000453096.2_Splice_Site	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa						mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						ATTAGATGAGGTAAGAAGCAA	0.333000								Nucleotide excision repair (NER)					13	35					1.05317e-09	1.47e-09	1	1	0
ANO3	63982	broad.mit.edu	37	11	26619915	26619915	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:26619915C>T	ENST00000256737.3	+	15	2303	c.1451C>T	c.(1450-1452)aCa>aTa	p.T484I	ANO3_ENST00000531568.1_Missense_Mutation_p.T338I|ANO3_ENST00000537978.1_Missense_Mutation_p.T468I|ANO3_ENST00000525139.1_Missense_Mutation_p.T468I	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	484						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TTTATAGCCACAGTCTTCCTG	0.318000													13	62					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150943180	150943180	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr5:150943180G>T	ENST00000261800.5	-	2	3292	c.3280C>A	c.(3280-3282)Ccc>Acc	p.P1094T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1094	Cadherin 9.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGTCCAGGGGTGCCAGAGTC	0.478000													4	18					0.014758	0.0152407	1	1	0
TCL1A	8115	broad.mit.edu	37	14	96180319	96180319	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr14:96180319C>A	ENST00000402399.1	-	1	214	c.85G>T	c.(85-87)Gag>Tag	p.E29*	TCL1A_ENST00000554012.1_Nonsense_Mutation_p.E29*|RP11-164H13.1_ENST00000547644.2_RNA|RP11-164H13.1_ENST00000553445.1_RNA|TCL1A_ENST00000556450.1_Nonsense_Mutation_p.E29*|TCL1A_ENST00000555202.1_Nonsense_Mutation_p.E29*	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN	T-cell leukemia/lymphoma 1A	29					multicellular organismal development	endoplasmic reticulum|microsome				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TGCTGCTTCTCGTCCAAATAC	0.672000			T	TRA@	T-CLL								7	162					0.00198382	0.00212483	1	1	0
SYNPR	132204	broad.mit.edu	37	3	63600940	63600940	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr3:63600940T>A	ENST00000478300.1	+	6	1052	c.641T>A	c.(640-642)aTa>aAa	p.I214K	SYNPR_ENST00000479198.1_3'UTR|SYNPR_ENST00000465156.1_Missense_Mutation_p.I130K|SYNPR_ENST00000295894.5_Missense_Mutation_p.I194K|SYNPR_ENST00000460711.1_Missense_Mutation_p.I205K	NM_001130003.1	NP_001123475.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	194	5 X approximate repeats.					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		GCTGGAAACATATGGTTTGTT	0.408000													3	14					0	0	1	0	0
RGS21	431704	broad.mit.edu	37	1	192335169	192335169	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:192335169C>A	ENST00000417209.2	+	5	548	c.374C>A	c.(373-375)cCt>cAt	p.P125H		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	125	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						GATTCTTTCCCTCGATTTCTG	0.368000													32	14					1.56442e-22	3.0064e-22	1	1	0
RIMBP2	23504	broad.mit.edu	37	12	130898708	130898708	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr12:130898708C>A	ENST00000261655.4	-	14	2777	c.2614G>T	c.(2614-2616)Gag>Tag	p.E872*		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	872	SH3 2.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGCTCCTCCTCTGCAGCATCT	0.612000													21	110					2.89027e-11	4.30617e-11	1	1	0
USP51	158880	broad.mit.edu	37	X	55513741	55513741	+	Silent	SNP	T	T	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:55513741T>A	ENST00000500968.3	-	2	1714	c.1632A>T	c.(1630-1632)ccA>ccT	p.P544P	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	544					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						AGGGGATTCCTGGTATGTGGT	0.517000													9	23					0	0	1	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113659993	113659993	+	RNA	SNP	A	A	C	rs906846	by1000genomes	TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:113659993A>C	ENST00000393544.2	+	0	41																											GGCAGCATGTAGGTTGCAGGG	0.657000													4	54					0	0	1	0	0
TMBIM6	7009	broad.mit.edu	37	12	50155486	50155486	+	Splice_Site	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr12:50155486G>A	ENST00000423828.1	+	9	1116		c.e9-1		TMBIM6_ENST00000267115.5_Splice_Site|TMBIM6_ENST00000547798.1_Splice_Site|TMBIM6_ENST00000395006.4_Splice_Site|TMBIM6_ENST00000549385.1_Splice_Site|TMBIM6_ENST00000552699.1_Splice_Site	NM_001098576.1	NP_001092046.1	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6						apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus				lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						TTGCCTTTCAGGCACTGCATT	0.428000													6	25					0	0	1	0	0
DHRS7	51635	broad.mit.edu	37	14	60620773	60620773	+	Silent	SNP	A	A	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr14:60620773A>G	ENST00000216500.5	-	4	752	c.297T>C	c.(295-297)aaT>aaC	p.N99N	PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000536410.2_Silent_p.N49N|PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000557185.1_Silent_p.N99N			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	99							binding|oxidoreductase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		TTTCTTTTAAATTGCCATTCT	0.438000													4	35					0	0	1	0	0
EMX1	2016	broad.mit.edu	37	2	73151449	73151449	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:73151449C>A	ENST00000258106.6	+	2	910	c.532C>A	c.(532-534)Ccc>Acc	p.P178T	EMX1_ENST00000394111.5_3'UTR	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	145						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(3)	6						CAGCGACGTGCCCCAGGACGG	0.726000													4	6					0.00909568	0.00954183	1	1	0
SNRPN	6638	broad.mit.edu	37	15	25223399	25223399	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr15:25223399C>A	ENST00000444203.2	+	7	1670	c.631C>A	c.(631-633)Cct>Act	p.P211T	SNRPN_ENST00000390687.4_Missense_Mutation_p.P207T|SNRPN_ENST00000400100.1_Missense_Mutation_p.P207T|SNRPN_ENST00000554227.2_Missense_Mutation_p.P211T|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000577565.1_Missense_Mutation_p.P207T|SNRPN_ENST00000400097.1_Missense_Mutation_p.P207T|SNRPN_ENST00000400098.1_Missense_Mutation_p.P207T|SNRPN_ENST00000346403.6_Missense_Mutation_p.P207T			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	207	Repeat-rich region.				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TGGGCTTCCCCCTGCTCGAGG	0.552000									Prader-Willi syndrome				27	134					9.39395e-14	1.54546e-13	1	1	0
EPB42	2038	broad.mit.edu	37	15	43498809	43498809	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr15:43498809T>A	ENST00000300215.3	-	10	1884	c.1427A>T	c.(1426-1428)gAg>gTg	p.E476V	EPB42_ENST00000441366.2_Missense_Mutation_p.E446V|EPB42_ENST00000540029.1_Missense_Mutation_p.E368V			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	446					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CTCCAGCACCTCTTTTTCCTG	0.478000													15	35					0	0	1	0	0
RPS7	6201	broad.mit.edu	37	2	3623451	3623451	+	Silent	SNP	C	C	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:3623451C>G	ENST00000407445.3	+	3	167	c.120C>G	c.(118-120)ctC>ctG	p.L40L	RPS7_ENST00000304921.5_Silent_p.L40L|RPS7_ENST00000403564.1_Silent_p.L40L|RPS7_ENST00000406376.1_Silent_p.L40L			P62081	RS7_HUMAN	ribosomal protein S7	40					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		AGGCTCAGCTCAGGGAGCTGA	0.642000													11	36					0	0	1	0	0
RXRG	6258	broad.mit.edu	37	1	165376092	165376092	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:165376092G>A	ENST00000359842.5	-	9	1503	c.1201C>T	c.(1201-1203)Ctt>Ttt	p.L401F		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	401	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	TAGGCCTCAAGGGTGGCATAA	0.517000													66	46					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85517973	85517973	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr12:85517973C>T	ENST00000393217.2	+	17	3744	c.3683C>T	c.(3682-3684)tCa>tTa	p.S1228L		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1228										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAAGATGAATCAGAAGCCCAG	0.418000													14	23					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84600909	84600909	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:84600909C>G	ENST00000262753.4	-	6	825	c.680G>C	c.(679-681)gGa>gCa	p.G227A	POF1B_ENST00000373145.3_Missense_Mutation_p.G227A	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	227							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CAGTTCATTTCCAATATGTGT	0.423000													16	91					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039809	31039809	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:31039809G>A	ENST00000355537.3	+	4	3430	c.3283G>A	c.(3283-3285)Gca>Aca	p.A1095T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1095					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)					GAAGAGCGGTGCATGGACCGG	0.547000													24	33					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1539247	1539247	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr7:1539247C>A	ENST00000389470.4	-	7	1089	c.1090G>T	c.(1090-1092)Ggg>Tgg	p.G364W	INTS1_ENST00000404767.3_Missense_Mutation_p.G236W|INTS1_ENST00000493531.1_5'UTR			Q8N201	INT1_HUMAN	integrator complex subunit 1	236					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ATCCGCTCCCCCAGGGAGTCC	0.657000													12	26					2.27111e-07	2.90685e-07	1	1	0
EIF4G2	1982	broad.mit.edu	37	11	10821697	10821697	+	Nonsense_Mutation	SNP	G	G	A	rs146119644		TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:10821697G>A	ENST00000526148.1	-	18	2569	c.2059C>T	c.(2059-2061)Cga>Tga	p.R687*	EIF4G2_ENST00000525681.1_Nonsense_Mutation_p.R687*|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Nonsense_Mutation_p.R687*|EIF4G2_ENST00000396525.2_Nonsense_Mutation_p.R649*	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	687					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AACCATTCTCGATCTTGTAAT	0.378000													4	35					0	0	1	0	0
AGA	175	broad.mit.edu	37	4	178354502	178354502	+	Splice_Site	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:178354502C>A	ENST00000264595.2	-	8	934		c.e8-1			NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase						asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		AGCTTGGTAGCTGATTGAAAC	0.373000													8	40					0.00448238	0.00476253	1	1	0
PI4KB	5298	broad.mit.edu	37	1	151280219	151280219	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:151280219C>A	ENST00000368875.2	-	5	1629	c.1049G>T	c.(1048-1050)cGg>cTg	p.R350L	PI4KB_ENST00000271657.5_Missense_Mutation_p.R350L|PI4KB_ENST00000368872.1_Missense_Mutation_p.R323L|PI4KB_ENST00000529142.1_Missense_Mutation_p.R6L|PI4KB_ENST00000368873.1_Missense_Mutation_p.R338L|PI4KB_ENST00000368874.4_Missense_Mutation_p.R323L	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	338					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CGTGGCCAGCCGCTTGCCGAT	0.557000													85	58					2.16136e-38	4.53474e-38	1	1	0
EDN3	1908	broad.mit.edu	37	20	57899404	57899404	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr20:57899404C>A	ENST00000311585.7	+	5	1012	c.642C>A	c.(640-642)aaC>aaA	p.N214K	EDN3_ENST00000371025.3_Missense_Mutation_p.N187K|EDN3_ENST00000395654.3_Missense_Mutation_p.Q189K|EDN3_ENST00000337938.2_Missense_Mutation_p.Q203K|EDN3_ENST00000371028.2_Missense_Mutation_p.Q203K	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	0					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CAAGGACCAACAAAGCAAGCA	0.502000													45	134					8.86878e-18	1.57641e-17	1	1	0
FAT3	120114	broad.mit.edu	37	11	92624210	92624210	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:92624210C>A	ENST00000298047.6	+	27	13718	c.13701C>A	c.(13699-13701)agC>agA	p.S4567R	FAT3_ENST00000409404.2_Missense_Mutation_p.S4535R|FAT3_ENST00000525166.1_Missense_Mutation_p.S4417R|FAT3_ENST00000533797.1_Missense_Mutation_p.S870R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4567					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)				ACTACGAGAGCGTGGGAGAGC	0.527000										TCGA Ovarian(4;0.039)			11	24					1.58986e-06	1.9629e-06	1	1	0
MAP3K4	4216	broad.mit.edu	37	6	161522923	161522923	+	Splice_Site	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr6:161522923G>T	ENST00000392142.4	+	18	3822		c.e18-1		MAP3K4_ENST00000348824.7_Splice_Site|MAP3K4_ENST00000366920.2_Splice_Site|MAP3K4_ENST00000366919.2_Splice_Site	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4						activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TATTAAAACAGGGGTTCCAGC	0.413000													10	62					0.000442599	0.000492355	1	1	0
ATP6V0D1	9114	broad.mit.edu	37	16	67472494	67472494	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr16:67472494C>A	ENST00000290949.3	-	8	1143	c.993G>T	c.(991-993)tgG>tgT	p.W331C	ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.W372C|ATP6V0D1_ENST00000602876.1_Missense_Mutation_p.W254C|ATP6V0D1_ENST00000567694.1_5'UTR	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	331					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		ATTCAGCGATCCACACGATGT	0.517000													22	58					1.50039e-11	2.27634e-11	1	1	0
NLRP6	171389	broad.mit.edu	37	11	281093	281093	+	Silent	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:281093C>T	ENST00000534750.1	+	4	1564	c.1359C>T	c.(1357-1359)gtC>gtT	p.V453V	NLRP6_ENST00000312165.5_Silent_p.V453V	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	453	NACHT.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCGAGGGCGTCCTCGGACGCA	0.642000													64	140					0	0	1	0	0
WAS	7454	broad.mit.edu	37	X	48547150	48547150	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:48547150G>C	ENST00000376701.4	+	10	1108	c.1033G>C	c.(1033-1035)Gta>Cta	p.V345L		NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	345					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				ACTGCCCCCTGTACCTTTGGG	0.701000			"""Mis, N, F, S"""			lymphoma							13	15					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882838	228882838	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:228882838G>T	ENST00000392056.3	-	7	2778	c.2732C>A	c.(2731-2733)cCt>cAt	p.P911H	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P911H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	911						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)		GGATTGAGCAGGAAGCAGCAG	0.468000													21	124					3.62473e-10	5.1793e-10	1	1	0
EIF3K	27335	broad.mit.edu	37	19	39123090	39123090	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:39123090G>T	ENST00000545173.2	+	5	451	c.375G>T	c.(373-375)atG>atT	p.M125I	EIF3K_ENST00000248342.4_Missense_Mutation_p.M125I|EIF3K_ENST00000588934.1_Intron|EIF3K_ENST00000593149.1_Missense_Mutation_p.M38I|EIF3K_ENST00000538434.1_Missense_Mutation_p.M38I|EIF3K_ENST00000592558.1_Missense_Mutation_p.M125I			Q9UBQ5	EIF3K_HUMAN	eukaryotic translation initiation factor 3, subunit K	125					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity		EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATGAAAACATGGACCTCTTGG	0.428000													20	147					6.44725e-10	9.11413e-10	1	1	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53956659	53956659	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:53956659C>A	ENST00000263634.3	-	4	538	c.404G>T	c.(403-405)gGa>gTa	p.G135V	ASB3_ENST00000498475.2_5'UTR|ASB3_ENST00000406625.2_Missense_Mutation_p.G170V|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.G62V|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.G173V|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.G62V	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN		170					intracellular signal transduction												AACATTTGCTCCGTGTTGAAG	0.373000													18	52					4.35082e-09	5.8511e-09	1	1	0
C4orf50	389197	broad.mit.edu	37	4	5981915	5981915	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:5981915C>A	ENST00000531445.1	-	2	1622	c.1576G>T	c.(1576-1578)Gag>Tag	p.E526*	C4orf50_ENST00000324058.5_Nonsense_Mutation_p.E52*			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	52										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						GCCTGGAGCTCCTCCTGGAGG	0.647000													4	28					0.00024832	0.000278572	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31324664	31324664	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr18:31324664G>A	ENST00000269197.5	+	12	4852	c.4852G>A	c.(4852-4854)Gga>Aga	p.G1618R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1618					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAGGAGCACAGGACAGCCTCT	0.443000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	8					0	0	1	0	0
RASA3	22821	broad.mit.edu	37	13	114784248	114784248	+	Silent	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr13:114784248C>A	ENST00000334062.7	-	10	1054	c.933G>T	c.(931-933)gcG>gcT	p.A311A	RASA3_ENST00000389544.4_Silent_p.A279A|RASA3_ENST00000542651.1_3'UTR	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	311					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CCTCCACATCCGCAGACTTCA	0.642000													16	36					2.37509e-13	3.82205e-13	1	1	0
KRT4	3851	broad.mit.edu	37	12	53202106	53202106	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr12:53202106C>A	ENST00000551956.1	-	6	1589	c.1097G>T	c.(1096-1098)cGg>cTg	p.R366L	KRT4_ENST00000293774.4_Missense_Mutation_p.R440L|KRT4_ENST00000458244.2_Missense_Mutation_p.R346L			B4DRS2	B4DRS2_HUMAN	keratin 4	366						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GATCTCTGCCCGCAGCCTCTG	0.547000													19	137					2.37509e-13	3.82205e-13	1	1	0
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158		TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1																						GCTGCCACATAAGTTGTCCTT	0.303000													3	25					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64690055	64690055	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr14:64690055G>A	ENST00000357395.3	+	113	20569	c.9425G>A	c.(9424-9426)cGg>cAg	p.R3142Q	SYNE2_ENST00000555002.1_Missense_Mutation_p.R3414Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.R6673Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.R6780Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.R3142Q|SYNE2_ENST00000554805.1_Missense_Mutation_p.R540Q|SYNE2_ENST00000458046.2_Missense_Mutation_p.R428Q|SYNE2_ENST00000441438.2_Missense_Mutation_p.R302Q|SYNE2_ENST00000344113.4_Missense_Mutation_p.R6757Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.R635Q			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6757					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	p.R6780L(1)|p.R6780Q(1)		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)		AAACAGTTACGGGAGCAAGTG	0.428000													16	39					0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44255366	44255366	+	Translation_Start_Site	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr6:44255366G>T	ENST00000371503.3	-	0	352				TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371505.4_Missense_Mutation_p.A66D			Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1											breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGATCCTCAGCAATGATCCG	0.547000													26	69					2.79863e-10	4.04247e-10	1	1	0
GPR50	9248	broad.mit.edu	37	X	150348439	150348439	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:150348439C>A	ENST00000218316.3	+	2	453	c.384C>A	c.(382-384)tgC>tgA	p.C128*		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	128					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					ACCGTTACTGCTACATCTGCC	0.542000													20	105					9.7654e-05	0.000111629	1	1	0
CORIN	10699	broad.mit.edu	37	4	47695087	47695087	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:47695087C>A	ENST00000273857.4	-	6	812	c.813G>T	c.(811-813)agG>agT	p.R271S	CORIN_ENST00000504584.1_Missense_Mutation_p.R271S|CORIN_ENST00000502252.1_Missense_Mutation_p.R204S|CORIN_ENST00000505909.1_Missense_Mutation_p.R271S|CORIN_ENST00000508498.1_Missense_Mutation_p.R132S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	271	LDL-receptor class A 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGTTCTCACCCCTTCCACAGA	0.398000													8	30					1.26484e-09	1.74707e-09	1	1	0
EFCAB1	79645	broad.mit.edu	37	8	49644005	49644005	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr8:49644005A>T	ENST00000262103.3	-	2	196	c.116T>A	c.(115-117)gTa>gAa	p.V39E	EFCAB1_ENST00000433756.1_Intron|EFCAB1_ENST00000523092.1_Intron|EFCAB1_ENST00000521002.1_Intron	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	39							calcium ion binding			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TTGCCTCTCTACTCCTCCCAC	0.353000													43	35					0	0	1	0	0
GNRHR	2798	broad.mit.edu	37	4	68606249	68606249	+	Silent	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:68606249G>T	ENST00000226413.4	-	3	960	c.936C>A	c.(934-936)gcC>gcA	p.A312A	RP11-453E17.1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_3'UTR|RP11-453E17.1_ENST00000502758.1_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	312					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	GGTTTAAAAAGGCAAAGAGAA	0.373000													26	66					6.32553e-13	9.93798e-13	1	1	0
TCTE1	202500	broad.mit.edu	37	6	44254222	44254222	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr6:44254222G>T	ENST00000371505.4	-	3	447	c.325C>A	c.(325-327)Ctg>Atg	p.L109M	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_De_novo_Start_InFrame	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	109										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGTGGTTCAGGACCTTCTGC	0.587000													57	118					3.40343e-31	6.90053e-31	1	1	0
CYP26A1	1592	broad.mit.edu	37	10	94834984	94834984	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr10:94834984G>A	ENST00000371531.1	+	4	955	c.577G>A	c.(577-579)Gag>Aag	p.E193K	CYP26A1_ENST00000394139.1_Missense_Mutation_p.E193K|CYP26A1_ENST00000224356.4_Missense_Mutation_p.E262K	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	262					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				GCGGGCATCCGAGGCGGGCCA	0.657000													19	37					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	410319	410319	+	Silent	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr10:410319C>A	ENST00000280886.6	-	20	2559	c.2472G>T	c.(2470-2472)cgG>cgT	p.R824R	DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Silent_p.R145R	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	824						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTGACCTTCCCCGGTAGACAA	0.522000													21	95					2.21704e-12	3.44238e-12	1	1	0
NEB	4703	broad.mit.edu	37	2	152507221	152507221	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:152507221C>A	ENST00000427231.2	-	53	7296	c.7094G>T	c.(7093-7095)gGa>gTa	p.G2365V	NEB_ENST00000172853.10_Missense_Mutation_p.G2365V|NEB_ENST00000397345.3_Missense_Mutation_p.G2365V|NEB_ENST00000409198.1_Missense_Mutation_p.G2365V|NEB_ENST00000603639.1_Missense_Mutation_p.G2365V|NEB_ENST00000604864.1_Missense_Mutation_p.G2365V	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2365					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAGTACCACTCCCAACATGTC	0.463000													53	173					6.30371e-39	1.32678e-38	1	1	0
DHX58	79132	broad.mit.edu	37	17	40255781	40255781	+	Silent	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr17:40255781C>A	ENST00000251642.3	-	12	1821	c.1599G>T	c.(1597-1599)cgG>cgT	p.R533R		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	533					innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTGGGCCGCCCGCTTGGTCA	0.642000													50	68					2.41709e-19	4.43914e-19	1	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125555735	125555735	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:125555735G>T	ENST00000431078.1	+	19	3416	c.3052G>T	c.(3052-3054)Gtg>Ttg	p.V1018L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1018	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACCCTATCCTGTGACCAAGAA	0.448000													7	19					0.000157383	0.00017776	1	1	0
FOXO4	4303	broad.mit.edu	37	X	70320771	70320771	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:70320771C>A	ENST00000374259.3	+	2	1023	c.691C>A	c.(691-693)Cct>Act	p.P231T	FOXO4_ENST00000341558.3_Missense_Mutation_p.P176T	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	231					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					TCCAACGAGCCCTGTCGGCCA	0.587000											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	31					0.248553	0.250061	1	1	0
KRT77	374454	broad.mit.edu	37	12	53091498	53091498	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr12:53091498G>T	ENST00000341809.3	-	2	754	c.726C>A	c.(724-726)agC>agA	p.S242R	KRT77_ENST00000537195.1_Missense_Mutation_p.S9R	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	242	Coil 1B.|Rod.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CATCCTGCATGCTCCTGACCT	0.582000													62	339					3.8128e-34	7.87504e-34	1	1	0
RECK	8434	broad.mit.edu	37	9	36100521	36100521	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr9:36100521C>T	ENST00000377966.3	+	11	1845	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	427						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TAGTAAATCTCGGGGAAGTAT	0.388000													4	31					0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71977917	71977917	+	Silent	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr12:71977917C>A	ENST00000266674.5	+	18	2438	c.2127C>A	c.(2125-2127)tcC>tcA	p.S709S	LGR5_ENST00000540815.2_Silent_p.S685S|LGR5_ENST00000536515.1_Silent_p.S637S			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	709						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						ATGGCGCCTCCCCTCTCTGCC	0.552000													65	136					2.72615e-36	5.7017e-36	1	1	0
SIGLEC14	100049587	broad.mit.edu	37	19	52146638	52146638	+	Silent	SNP	G	G	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:52146638G>C	ENST00000360844.6	-	7	1202	c.1161C>G	c.(1159-1161)ccC>ccG	p.P387P	SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000534261.2_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	387					cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGCTCTGCTGGGGGCCTCCAC	0.612000													32	84					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105177627	105177627	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr10:105177627G>T	ENST00000369797.3	+	14	1943	c.1849G>T	c.(1849-1851)Gag>Tag	p.E617*		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	617					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GAGTGATCCAGAGCCAAAGAA	0.468000													36	72					2.09667e-21	3.96037e-21	1	1	0
NCAPD3	23310	broad.mit.edu	37	11	134055245	134055245	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:134055245C>A	ENST00000534548.2	-	17	2286	c.2222G>T	c.(2221-2223)tGg>tTg	p.W741L	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	741					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GATTTTCTCCCAAGATTGTAT	0.448000													9	17					0.000442599	0.000492355	1	1	0
PRPF4B	8899	broad.mit.edu	37	6	4037663	4037663	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr6:4037663G>T	ENST00000337659.6	+	3	1371	c.1271G>T	c.(1270-1272)cGt>cTt	p.R424L	PRPF4B_ENST00000538861.1_Missense_Mutation_p.R410L	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	424	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)				CTCAGTAGACGTGAAAGATCA	0.398000													11	27					9.05144e-12	1.38594e-11	1	1	0
PAX2	5076	broad.mit.edu	37	10	102509612	102509612	+	Silent	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr10:102509612C>A	ENST00000370296.2	+	2	703	c.153C>A	c.(151-153)ccC>ccA	p.P51P	PAX2_ENST00000361791.3_Silent_p.P51P|PAX2_ENST00000556085.1_Silent_p.P50P|PAX2_ENST00000355243.3_Silent_p.P51P|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000428433.1_Silent_p.P51P			Q02962	PAX2_HUMAN	paired box 2	51	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GTGTGCGGCCCTGTGACATCT	0.677000													26	45					3.00307e-07	3.83629e-07	1	1	0
OR8H2	390151	broad.mit.edu	37	11	55873257	55873257	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:55873257G>T	ENST00000313503.1	+	1	739	c.739G>T	c.(739-741)Gga>Tga	p.G247*		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TCATCTCTTGGGAGTCACCAT	0.353000										HNSCC(53;0.14)			13	49					7.03913e-09	9.37137e-09	1	1	0
TMPPE	643853	broad.mit.edu	37	3	33134910	33134910	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr3:33134910C>A	ENST00000342462.4	-	2	968	c.778G>T	c.(778-780)Gct>Tct	p.A260S	TMPPE_ENST00000416695.2_Missense_Mutation_p.A123S|GLB1_ENST00000445488.2_Intron|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000307377.8_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	260						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						CCCAGAGGAGCGACAGCCGTC	0.537000													24	51					3.6726e-16	6.29182e-16	1	1	0
OR51B2	79345	broad.mit.edu	37	11	5344629	5344629	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:5344629C>A	ENST00000328813.2	-	1	953	c.899G>T	c.(898-900)gGc>gTc	p.G300V	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCGGATAATGCCATATTGTAT	0.373000													11	29					5.16669e-11	7.6292e-11	1	1	0
TTN	7273	broad.mit.edu	37	2	179610878	179610878	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:179610878A>G	ENST00000360870.5	-	46	16471	c.16249T>C	c.(16249-16251)Tat>Cat	p.Y5417H	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8925	Ig-like 35.						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)			ATACACATATATTCTTTATAC	0.353000													25	58					0	0	1	0	0
UNC80	285175	broad.mit.edu	37	2	210640689	210640689	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:210640689C>A	ENST00000439458.1	+	3	298	c.218C>A	c.(217-219)tCc>tAc	p.S73Y	UNC80_ENST00000272845.5_Missense_Mutation_p.S73Y|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	73						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CAGAGCATTTCCAGATGGGAA	0.483000													45	109					4.14194e-30	8.37227e-30	1	1	0
C11orf74	119710	broad.mit.edu	37	11	36657666	36657666	+	Splice_Site	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:36657666G>T	ENST00000446510.2	+	4	456	c.358_splice	c.e4+1	p.E119_splice	C11orf74_ENST00000334307.5_Splice_Site_p.E119_splice|C11orf74_ENST00000534635.1_Intron|C11orf74_ENST00000347206.4_Intron			Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	119										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				AAATGAGTGAGGGTATGCTTT	0.333000													4	14					0.014758	0.0152407	1	1	0
SLC35A1	10559	broad.mit.edu	37	6	88182724	88182724	+	Translation_Start_Site	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr6:88182724G>T	ENST00000369552.4	+	1	30	c.3G>T	c.(1-3)atG>atT	p.M1I	SLC35A1_ENST00000369557.5_Start_Codon_SNP_p.M1I|SLC35A1_ENST00000369556.3_Start_Codon_SNP_p.M1I|SLC35A1_ENST00000544441.1_5'UTR|C6orf165_ENST00000506888.1_Intron|SLC35A1_ENST00000464978.1_Intron|C6orf165_ENST00000507897.1_Intron	NM_006416.4	NP_006407.1	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid transporter), member A1	1					carbohydrate metabolic process|protein modification process	Golgi membrane|integral to plasma membrane	CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGGGAACCATGGCTGCCCCGA	0.746000													5	0					1	1	1	1	0
TAS2R41	259287	broad.mit.edu	37	7	143175367	143175367	+	Silent	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr7:143175367G>T	ENST00000408916.1	+	1	402	c.402G>T	c.(400-402)ctG>ctT	p.L134L	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	134					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CCTGGCTCCTGTTGGGCTCTG	0.473000													13	35					4.3838e-07	5.52559e-07	1	1	0
GAB4	128954	broad.mit.edu	37	22	17472966	17472966	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr22:17472966C>G	ENST00000400588.1	-	2	382	c.275G>C	c.(274-276)cGc>cCc	p.R92P	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	92	PH.							p.R92P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GTTGATGGTGCGCAGGGGCTT	0.502000													48	137					0	0	1	0	0
C3AR1	719	broad.mit.edu	37	12	8212491	8212491	+	Silent	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr12:8212491G>T	ENST00000307637.4	-	2	494	c.291C>A	c.(289-291)ctC>ctA	p.L97L		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	97					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TGGAGGGGATGAGCTTGCATA	0.557000													8	46					5.18039e-06	6.2221e-06	1	1	0
ITGB8	3696	broad.mit.edu	37	7	20421422	20421422	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr7:20421422C>A	ENST00000222573.3	+	6	1558	c.874C>A	c.(874-876)Ctt>Att	p.L292I	ITGB8_ENST00000537992.1_Missense_Mutation_p.L157I	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	292	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TCATCTCGCTCTTGATAGCAA	0.413000													24	51					9.22233e-05	0.000105786	1	1	0
OR5P2	120065	broad.mit.edu	37	11	7818088	7818088	+	Silent	SNP	T	T	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:7818088T>A	ENST00000329434.2	-	1	432	c.402A>T	c.(400-402)acA>acT	p.T134T	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CACTGACTTGTGTGGACATTT	0.433000													23	18					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175956	57175956	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:57175956G>A	ENST00000537055.2	-	2	842	c.611C>T	c.(610-612)aCg>aTg	p.T204M		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CGTGACGCGCGTGAAGGCCTT	0.731000													11	32					0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37292142	37292142	+	Splice_Site	SNP	T	T	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr5:37292142T>A	ENST00000231498.3	-	35	4241		c.e35-2		NUP155_ENST00000502533.1_Splice_Site|NUP155_ENST00000381843.2_Splice_Site|NUP155_ENST00000513532.1_Splice_Site	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa						carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATCTTCTCCTACAACGAAAA	0.423000													6	64					0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486341	125486341	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr9:125486341C>G	ENST00000259466.1	+	1	73	c.73C>G	c.(73-75)Cag>Gag	p.Q25E		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CCCTAAGCTGCAGAAACCTCT	0.522000													31	130					0	0	1	0	0
TBCCD1	55171	broad.mit.edu	37	3	186272222	186272222	+	Silent	SNP	T	T	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr3:186272222T>G	ENST00000424280.1	-	6	1844	c.1365A>C	c.(1363-1365)acA>acC	p.T455T	TBCCD1_ENST00000338733.5_Silent_p.T455T|TBCCD1_ENST00000446782.1_Silent_p.T359T|TBCCD1_ENST00000479590.1_5'UTR	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	455					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		GGAAGACTCTTGTGTCGCTGT	0.458000													17	17					0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118434473	118434473	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr10:118434473G>A	ENST00000369209.3	-	12	1951	c.1847C>T	c.(1846-1848)cCc>cTc	p.P616L		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	616							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CTTCACCCCGGGATCAGTGAT	0.607000													25	71					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81633757	81633757	+	Silent	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr15:81633757G>T	ENST00000558726.1	-	16	1956	c.1821C>A	c.(1819-1821)ccC>ccA	p.P607P	TMC3_ENST00000359440.5_Silent_p.P606P|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	606						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CTTGCTGGTGGGGCACATTGC	0.478000													3	10					0.00909568	0.00954183	1	1	0
PPP1R16B	26051	broad.mit.edu	37	20	37518309	37518309	+	Splice_Site	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr20:37518309G>T	ENST00000299824.1	+	3	510		c.e3+1		PPP1R16B_ENST00000373331.2_Splice_Site|PPP1R16B_ENST00000468265.1_Splice_Site	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B						regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CCTACACCAGGTAAGGCCGGG	0.582000													39	127					3.38236e-24	6.63462e-24	1	1	0
UQCRC1	7384	broad.mit.edu	37	3	48637519	48637519	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr3:48637519C>A	ENST00000203407.5	-	11	1695	c.1279G>T	c.(1279-1281)Gct>Tct	p.A427S		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	427					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	TCCCATTCAGCCAGGGGGATG	0.612000													4	59					2.56e-06	3.12e-06	1	1	0
CTC1	80169	broad.mit.edu	37	17	8141533	8141533	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr17:8141533C>A	ENST00000315684.8	-	4	470	c.463G>T	c.(463-465)Ggc>Tgc	p.G155C	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	155					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						AAAAGATGGCCCAACCAAGAA	0.537000													30	26					1.30897e-18	2.35828e-18	1	1	0
COL11A2	1302	broad.mit.edu	37	6	33141291	33141291	+	Silent	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr6:33141291C>A	ENST00000341947.2	-	36	2897	c.2670G>T	c.(2668-2670)ccG>ccT	p.P890P	COL11A2_ENST00000374708.4_Silent_p.P804P|COL11A2_ENST00000357486.1_Silent_p.P869P|COL11A2_ENST00000395197.1_Silent_p.P830P|COL11A2_ENST00000361917.1_Silent_p.P783P|COL11A2_ENST00000374714.1_Silent_p.P864P|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Silent_p.P809P|COL11A2_ENST00000374713.1_Silent_p.P843P	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	890	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	p.P890P(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGGTCCTTTCGGTCCAGGAA	0.612000													7	78					0.000157383	0.00017776	1	1	0
VPS11	55823	broad.mit.edu	37	11	118948268	118948268	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:118948268C>G	ENST00000300793.6	+	10	1522	c.1480C>G	c.(1480-1482)Cag>Gag	p.Q494E	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	495					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GGTCCTCCGGCAGGCTGGCTA	0.498000													18	34					0	0	1	0	0
SYP	6855	broad.mit.edu	37	X	49054291	49054291	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:49054291G>T	ENST00000263233.4	-	3	182	c.110C>A	c.(109-111)gCc>gAc	p.A37D	SYP_ENST00000538567.1_Intron|SYP_ENST00000479808.1_Missense_Mutation_p.A37D	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	37	MARVEL.				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				GGCGAAGATGGCGAAGACCTT	0.622000													5	34					0.00116845	0.00126789	1	1	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862818	10862818	+	RNA	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr21:10862818G>T	ENST00000559480.1	+	0	114																		p.K38N(1)		breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						CCTCAGTGAAGGTCTCCTGCA	0.577000													36	557					5.48756e-27	1.08605e-26	1	1	0
C17orf104	284071	broad.mit.edu	37	17	42745519	42745519	+	Missense_Mutation	SNP	G	G	A	rs140839045		TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr17:42745519G>A	ENST00000409122.2	+	5	2382	c.2240G>A	c.(2239-2241)cGt>cAt	p.R747H	C17orf104_ENST00000409464.1_Missense_Mutation_p.R581H|C17orf104_ENST00000359945.3_Missense_Mutation_p.R747H	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	747										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						ATTAAAACCCGTAGTGGACCA	0.363000													5	40					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145156186	145156186	+	Silent	SNP	T	T	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:145156186T>A	ENST00000558170.2	-	8	3752	c.2568A>T	c.(2566-2568)tcA>tcT	p.S856S	ZEB2_ENST00000539609.3_Silent_p.S832S|ZEB2_ENST00000409487.3_Silent_p.S856S|ZEB2_ENST00000303660.4_Silent_p.S856S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	856						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAGGCTCATCTGAGTTTTCAG	0.343000													21	50					0	0	1	0	0
ZNF595	152687	broad.mit.edu	37	4	59422	59422	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:59422G>A	ENST00000509152.2	+	2	288	c.103G>A	c.(103-105)Gag>Aag	p.E35K	ZNF595_ENST00000526473.2_Missense_Mutation_p.E35K|ZNF595_ENST00000339368.6_3'UTR					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TGTGATGTTGGAGAACTACAG	0.433000													39	418					0	0	1	0	0
TREM1	54210	broad.mit.edu	37	6	41250146	41250146	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr6:41250146C>A	ENST00000591620.1	-	2	419	c.393G>T	c.(391-393)ttG>ttT	p.L131F	TREM1_ENST00000244709.4_Missense_Mutation_p.L131F|TREM1_ENST00000334475.6_Missense_Mutation_p.L131F|TREM1_ENST00000589614.1_Missense_Mutation_p.L131F	NM_001242589.1	NP_001229518.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	131	Ig-like V-type.				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	TGGTCACCACCAAGCGGATGC	0.562000													13	44					4.3838e-07	5.52559e-07	1	1	0
BNC1	646	broad.mit.edu	37	15	83926618	83926618	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr15:83926618G>T	ENST00000345382.2	-	5	2646	c.2561C>A	c.(2560-2562)aCc>aAc	p.T854N	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.T847N	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	854					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ATCCAGGATGGTGCCCTCGCT	0.537000													20	59					6.44725e-10	9.11413e-10	1	1	0
DDR2	4921	broad.mit.edu	37	1	162688892	162688892	+	Silent	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:162688892G>T	ENST00000367922.2	+	4	477	c.39G>T	c.(37-39)ctG>ctT	p.L13L	DDR2_ENST00000367921.3_Silent_p.L13L	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	13					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			TGCTGTTCCTGCTGCTGCCTA	0.438000													44	48					4.18559e-23	8.11416e-23	1	1	0
SELP	6403	broad.mit.edu	37	1	169565170	169565170	+	Silent	SNP	T	T	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:169565170T>A	ENST00000263686.6	-	12	2131	c.2094A>T	c.(2092-2094)gcA>gcT	p.A698A	SELP_ENST00000367793.2_Silent_p.A636A|SELP_ENST00000367794.2_Silent_p.A636A|SELP_ENST00000367792.2_Silent_p.A514A|SELP_ENST00000458599.2_Silent_p.A514A|SELP_ENST00000367788.2_Silent_p.A636A|SELP_ENST00000367786.2_Silent_p.A636A|SELP_ENST00000367791.2_Silent_p.A512A	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	698	Sushi 8.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TACCTCTGCATGCTGGAGTTA	0.498000													234	149					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24488154	24488154	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr5:24488154C>A	ENST00000264463.4	-	12	2492	c.1985G>T	c.(1984-1986)gGt>gTt	p.G662V	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	662					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTCCTCTCCACCACCCTCATC	0.458000										HNSCC(23;0.051)			13	102					0.00244969	0.00261959	1	1	0
MAGEA5	4104	broad.mit.edu	37	X	151283687	151283687	+	RNA	SNP	A	A	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:151283687A>T	ENST00000509345.2	-	0	649																											CTTCTTACTGAGTGCTGCTCG	0.493000													24	93					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202283938	202283938	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:202283938G>T	ENST00000367278.3	+	17	1665	c.1576G>T	c.(1576-1578)Gac>Tac	p.D526Y	LGR6_ENST00000255432.7_Missense_Mutation_p.D474Y|LGR6_ENST00000439764.2_Missense_Mutation_p.D387Y	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	526						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						AGATGACCAGGACCTGGATGA	0.562000													28	27					1.39806e-14	2.34661e-14	1	1	0
MMP16	4325	broad.mit.edu	37	8	89131021	89131021	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr8:89131021G>T	ENST00000286614.6	-	5	1060	c.779C>A	c.(778-780)cCc>cAc	p.P260H	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	260					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						GATGGCAGTGGGGTCATTGGA	0.403000													42	36					4.32679e-17	7.58906e-17	1	1	0
USP26	83844	broad.mit.edu	37	X	132161025	132161025	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:132161025T>A	ENST00000511190.1	-	6	1693	c.1224A>T	c.(1222-1224)aaA>aaT	p.K408N	USP26_ENST00000406273.1_Missense_Mutation_p.K408N|USP26_ENST00000370832.1_Missense_Mutation_p.K408N	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	408					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CAAATTCACTTTTAGGCTTCC	0.378000													19	52					0	0	1	0	0
SQLE	6713	broad.mit.edu	37	8	126021565	126021565	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr8:126021565A>C	ENST00000265896.5	+	6	1986	c.1088A>C	c.(1087-1089)aAa>aCa	p.K363T	SQLE_ENST00000523430.1_Missense_Mutation_p.K268T	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	363					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	ATGGTTGAAAAAATTTACCCA	0.378000													8	29					0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172165529	172165529	+	Silent	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr3:172165529G>T	ENST00000241256.2	-	1	717	c.675C>A	c.(673-675)gtC>gtA	p.V225V	GHSR_ENST00000427970.1_Silent_p.V225V	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	225					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGAGACAGAAGACAGGAAGGA	0.617000													24	40					3.6726e-16	6.29182e-16	1	1	0
ZHX1	11244	broad.mit.edu	37	8	124267142	124267142	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr8:124267142C>G	ENST00000395571.3	-	3	1662	c.1045G>C	c.(1045-1047)Gag>Cag	p.E349Q	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Missense_Mutation_p.E349Q|ZHX1_ENST00000297857.2_Missense_Mutation_p.E349Q	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	349	Required for dimerization.|Required for interaction with NFYA.				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)			CTTGCCTCCTCTACTTCCTCG	0.413000													158	73					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125627318	125627318	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:125627318C>A	ENST00000431078.1	+	21	3776	c.3412C>A	c.(3412-3414)Ctc>Atc	p.L1138I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1138	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TATAAGGTCACTCACCTTGGG	0.398000													10	14					0.000442599	0.000492355	1	1	0
CD207	50489	broad.mit.edu	37	2	71062729	71062729	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:71062729G>T	ENST00000410009.3	-	2	128	c.83C>A	c.(82-84)cCc>cAc	p.P28H		NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	28					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						ACCGGACTTGGGAGGAGGCTC	0.577000													11	29					1.58986e-06	1.9629e-06	1	1	0
DCDC1	341019	broad.mit.edu	37	11	30974093	30974093	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:30974093T>A	ENST00000597505.1	-	19	2613	c.2614A>T	c.(2614-2616)Acc>Tcc	p.T872S	DCDC1_ENST00000437348.1_Intron|DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GGCTTACTGGTTCCTTCATGT	0.358000													3	12					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100382333	100382333	+	RNA	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr7:100382333C>A	ENST00000542585.1	+	0	6856				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_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				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)			GGTGTGAGGGCGCCAAAGTCC	0.612000													5	63					3.59834e-05	4.20758e-05	1	1	0
MMP10	4319	broad.mit.edu	37	11	102643670	102643670	+	Silent	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:102643670C>T	ENST00000279441.4	-	8	1170	c.1134G>A	c.(1132-1134)ctG>ctA	p.L378L		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	378	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		GAGGAAAACCCAGGGTATGGA	0.403000													23	78					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5772927	5772927	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:5772927G>T	ENST00000381624.3	+	20	1953	c.1892G>T	c.(1891-1893)tGg>tTg	p.W631L	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	631						integral to membrane											CCGCAGAACTGGACCACCATG	0.562000													6	55					5.18039e-06	6.2221e-06	1	1	0
HOXA5	3202	broad.mit.edu	37	7	27182836	27182836	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr7:27182836C>A	ENST00000222726.3	-	1	451	c.391G>T	c.(391-393)Gac>Tac	p.D131Y	HOXA-AS3_ENST00000518848.1_RNA|HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000521197.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	131					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						CTGCCGGCGTCGGCCGAGGCG	0.731000													34	83					6.00712e-18	1.07062e-17	1	1	0
OR8A1	390275	broad.mit.edu	37	11	124440900	124440900	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:124440900A>T	ENST00000284287.3	+	1	1008	c.936A>T	c.(934-936)gaA>gaT	p.E312D		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GGAACAAGGAAGTAAAGGCTG	0.433000													30	41					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25755615	25755615	+	Silent	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr10:25755615G>T	ENST00000376351.3	+	5	1730	c.1371G>T	c.(1369-1371)acG>acT	p.T457T		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	457						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGTTGGAAACGATCCTTTTTG	0.338000													12	34					6.72482e-11	9.86407e-11	1	1	0
CAPN10	11132	broad.mit.edu	37	2	241534569	241534569	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:241534569G>T	ENST00000391984.2	+	7	1322	c.1126G>T	c.(1126-1128)Gag>Tag	p.E376*	CAPN10_ENST00000391982.2_Nonsense_Mutation_p.E376*|CAPN10_ENST00000404753.3_Nonsense_Mutation_p.E376*|CAPN10_ENST00000354082.4_Nonsense_Mutation_p.E376*|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000352879.4_Intron	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	376	Domain III 1.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		AGAACCGAGTGAGGTGTACAT	0.657000													32	93					1.836e-18	3.28992e-18	1	1	0
EPC1	80314	broad.mit.edu	37	10	32573856	32573856	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr10:32573856G>A	ENST00000319778.6	-	10	1816	c.1514C>T	c.(1513-1515)aCc>aTc	p.T505I	EPC1_ENST00000375110.2_Missense_Mutation_p.T455I|EPC1_ENST00000263062.8_Missense_Mutation_p.T505I	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	505					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TTTGTCCGAGGTATTTGTTTC	0.423000													31	68					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1779313	1779313	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr10:1779313G>A	ENST00000381312.1	-	1	357	c.32C>T	c.(31-33)tCt>tTt	p.S11F		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	11					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CAGCCCTCCAGACCCTCTGCC	0.697000													13	130					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028418	37028418	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:37028418G>T	ENST00000358047.3	+	1	1987	c.1935G>T	c.(1933-1935)gaG>gaT	p.E645D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	645										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						TCCGCCCGGAGCCTCCCAATA	0.632000													47	71					6.7651e-33	1.38863e-32	1	1	0
ARFIP1	27236	broad.mit.edu	37	4	153809416	153809416	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:153809416G>A	ENST00000451320.2	+	8	1087	c.923G>A	c.(922-924)cGc>cAc	p.R308H	ARFIP1_ENST00000356064.3_Missense_Mutation_p.R276H|ARFIP1_ENST00000405727.2_Missense_Mutation_p.R276H|ARFIP1_ENST00000353617.2_Missense_Mutation_p.R308H|ARFIP1_ENST00000429148.2_Missense_Mutation_p.R128H			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	308	AH.				intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane		p.R308H(2)	ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					GATAAAATGCGCAATGATGTT	0.378000													3	27					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141135760	141135760	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:141135760C>A	ENST00000389484.3	-	68	11598	c.10627G>T	c.(10627-10629)Ggc>Tgc	p.G3543C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3543	LDL-receptor class A 26.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATCAGAGCCATCTGCACAG	0.413000										TSP Lung(27;0.18)			18	34					1.15919e-05	1.37485e-05	1	1	0
TMTC1	83857	broad.mit.edu	37	12	29904647	29904647	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr12:29904647T>C	ENST00000256062.5	-	5	1039	c.566A>G	c.(565-567)aAg>aGg	p.K189R	TMTC1_ENST00000381224.2_Missense_Mutation_p.K189R|TMTC1_ENST00000552618.1_Missense_Mutation_p.K297R|TMTC1_ENST00000551659.1_Missense_Mutation_p.K297R|TMTC1_ENST00000539277.1_Missense_Mutation_p.K297R	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	297						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TCCACTGCTCTTGGGTTCTGG	0.582000													4	71					0	0	1	0	0
CASKIN1	57524	broad.mit.edu	37	16	2230047	2230047	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr16:2230047C>T	ENST00000343516.6	-	18	3414	c.3322G>A	c.(3322-3324)Gcg>Acg	p.A1108T		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1108	Pro-rich.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						TCGACACCCGCCTCGCCCTTG	0.697000													4	8					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107464503	107464503	+	Silent	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:107464503G>T	ENST00000334504.7	-	4	479	c.246C>A	c.(244-246)ggC>ggA	p.G82G	COL4A6_ENST00000372216.4_Silent_p.G83G|COL4A6_ENST00000545689.1_Silent_p.G82G|COL4A6_ENST00000538570.1_Silent_p.G82G|COL4A6_ENST00000394872.2_Silent_p.G82G	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	83	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GTCCCAGAAGGCCTGGGAAAC	0.473000									Alport syndrome with Diffuse Leiomyomatosis				33	76					1.61788e-16	2.79337e-16	1	1	0
IGHV3-16	28447	broad.mit.edu	37	14	106622114	106622114	+	RNA	SNP	G	G	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr14:106622114G>C	ENST00000390604.2	-	0	204																											GGTGAATCCAGAGGCTGCACA	0.587000													64	163					0	0	1	0	0
ABHD14B	84836	broad.mit.edu	37	3	52005522	52005522	+	Silent	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr3:52005522G>A	ENST00000315877.10	-	2	858	c.165C>T	c.(163-165)caC>caT	p.H55H	ABHD14B_ENST00000525795.1_Silent_p.H55H|ABHD14B_ENST00000461108.1_Silent_p.H55H|ABHD14B_ENST00000395008.2_Silent_p.H55H|RP11-155D18.12_ENST00000488257.1_RNA|ABHD14B_ENST00000487005.1_Intron|ABHD14B_ENST00000361143.5_Silent_p.H55H|ABHD14B_ENST00000483233.1_Silent_p.H55H			Q96IU4	ABHEB_HUMAN	abhydrolase domain containing 14B	55						cytoplasm|nucleus	hydrolase activity			large_intestine(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000548)|KIRC - Kidney renal clear cell carcinoma(197;0.00072)		GGGCCAGCCTGTGCAGTGTAC	0.627000													10	19					0	0	1	0	0
MT4	84560	broad.mit.edu	37	16	56599070	56599070	+	Splice_Site	SNP	T	T	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr16:56599070T>A	ENST00000219162.3	+	1	110	c.31_splice	c.e1+1	p.S10_splice		NM_032935.2	NP_116324.1	P47944	MT4_HUMAN	metallothionein 4	10						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						TCTGCATGTCTGGTGAGTAAA	0.577000													25	58					0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42371832	42371832	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr15:42371832C>T	ENST00000290472.3	-	13	1314	c.1220G>A	c.(1219-1221)aGc>aAc	p.S407N		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	407	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CCGGCGGTAGCTCGCCAGGCG	0.662000													12	33					0	0	1	0	0
DNAAF3	352909	broad.mit.edu	37	19	55672720	55672720	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:55672720C>T	ENST00000527223.2	-	7	935	c.934G>A	c.(934-936)Gac>Aac	p.D312N	CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Missense_Mutation_p.D291N|DNAAF3_ENST00000524407.2_Missense_Mutation_p.D244N|DNAAF3_ENST00000455045.1_Missense_Mutation_p.D190N	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	244																	GCGCTGGAGTCCCTGAGTTCA	0.667000													3	23					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178551984	178551984	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr5:178551984G>T	ENST00000251582.7	-	19	3049	c.2948C>A	c.(2947-2949)cCc>cAc	p.P983H		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	983	TSP type-1 4.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTGGGACCAGGGCCCGGCTCG	0.692000													27	61					3.80469e-20	7.08571e-20	1	1	0
ACACB	32	broad.mit.edu	37	12	109577645	109577645	+	Silent	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr12:109577645C>A	ENST00000338432.7	+	2	554	c.435C>A	c.(433-435)ggC>ggA	p.G145G	ACACB_ENST00000377854.5_Silent_p.G145G|ACACB_ENST00000377848.3_Silent_p.G145G			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	145					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AGCAAGCTGGCTCCCCCTCCA	0.577000													35	179					2.20474e-14	3.69126e-14	1	1	0
CUX2	23316	broad.mit.edu	37	12	111785638	111785638	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr12:111785638G>T	ENST00000261726.6	+	22	4124	c.3970G>T	c.(3970-3972)Ggc>Tgc	p.G1324C		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1324						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCTGGACAAAGGCCAAGGTCC	0.622000													15	98					4.93089e-13	7.80234e-13	1	1	0
MS4A4A	51338	broad.mit.edu	37	11	60070138	60070138	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:60070138G>C	ENST00000355131.3	+	6	660	c.437G>C	c.(436-438)tGt>tCt	p.C146S	MS4A4A_ENST00000395016.3_Missense_Mutation_p.C146S|MS4A4A_ENST00000337908.4_Missense_Mutation_p.C165S|MS4A4A_ENST00000532114.1_Intron	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	165						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CACCCTTACTGTAACTACTAT	0.398000													25	32					0	0	1	0	0
CHST6	4166	broad.mit.edu	37	16	75512650	75512650	+	Silent	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr16:75512650C>A	ENST00000332272.4	-	3	1256	c.1077G>T	c.(1075-1077)cgG>cgT	p.R359R	CHST6_ENST00000390664.2_Silent_p.R359R|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	359					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGTACACAGGCCGGTAGCCCA	0.662000													19	71					4.35082e-09	5.8511e-09	1	1	0
RIMS4	140730	broad.mit.edu	37	20	43384983	43384983	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr20:43384983C>A	ENST00000372851.3	-	6	668	c.602G>T	c.(601-603)tGg>tTg	p.W201L	RIMS4_ENST00000541604.2_Missense_Mutation_p.W202L	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	201	C2.				exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				GTAGTTCCCCCACACGATCAC	0.622000													4	17					0.217242	0.218893	1	1	0
NUTM2G	441457	broad.mit.edu	37	9	99694205	99694205	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr9:99694205C>A	ENST00000354649.3	+	2	933	c.218C>A	c.(217-219)cCa>cAa	p.P73Q	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000372322.3_Missense_Mutation_p.P73Q	NM_001045477.2	NP_001038942.1			NUT family member 2G																		GGCCGCGGCCCAAGTGGGGCT	0.652000													10	49					0.010729	0.0112021	1	1	0
COL20A1	57642	broad.mit.edu	37	20	61943048	61943048	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr20:61943048G>T	ENST00000422202.1	+	12	1700	c.1632G>T	c.(1630-1632)caG>caT	p.Q544H	COL20A1_ENST00000326996.6_Missense_Mutation_p.Q537H|COL20A1_ENST00000435874.1_Missense_Mutation_p.Q544H|COL20A1_ENST00000358894.6_Missense_Mutation_p.Q537H			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	537	Fibronectin type-III 3.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TCTCGGTGCAGAGCCTGCGAG	0.706000													6	18					5.9392e-07	7.45775e-07	1	1	0
TRAPPC8	22878	broad.mit.edu	37	18	29454466	29454466	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr18:29454466T>A	ENST00000283351.4	-	13	2265	c.1930A>T	c.(1930-1932)Aga>Tga	p.R644*	TRAPPC8_ENST00000582513.1_Nonsense_Mutation_p.R644*|TRAPPC8_ENST00000582539.1_Nonsense_Mutation_p.R590*	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	644					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGATATTCTCTGAGGAAAGCC	0.328000													6	23					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153593511	153593511	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:153593511C>A	ENST00000422373.1	-	11	1932	c.1684G>T	c.(1684-1686)Ggg>Tgg	p.G562W	FLNA_ENST00000360319.4_Missense_Mutation_p.G562W|FLNA_ENST00000344736.4_Missense_Mutation_p.G562W|FLNA_ENST00000369850.3_Missense_Mutation_p.G562W	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	562					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	p.G562R(1)		breast(6)	6	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)					CACCTGCGCCCGATGTTCTGA	0.602000													34	111					8.16721e-17	1.42122e-16	1	1	0
MEGF6	1953	broad.mit.edu	37	1	3431225	3431225	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:3431225A>T	ENST00000356575.4	-	7	968	c.742T>A	c.(742-744)Tgt>Agt	p.C248S	MEGF6_ENST00000294599.4_Missense_Mutation_p.C143S	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	248	EGF-like 4.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CTGTTGGCACACGGGCTTCTA	0.692000													4	13					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65412038	65412038	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:65412038G>T	ENST00000519389.1	+	7	1471	c.1292G>T	c.(1291-1293)gGc>gTc	p.G431V	HEPH_ENST00000419594.1_Missense_Mutation_p.G380V|HEPH_ENST00000343002.2_Missense_Mutation_p.G377V|HEPH_ENST00000336279.5_Missense_Mutation_p.G110V|HEPH_ENST00000374727.3_Missense_Mutation_p.G380V|HEPH_ENST00000441993.2_Missense_Mutation_p.G380V			Q9BQS7	HEPH_HUMAN	hephaestin	377	Plastocyanin-like 3.				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						CTGCTCACAGGCAAAGTTCGA	0.522000													17	37					1.99824e-07	2.5675e-07	1	1	0
KCNA1	3736	broad.mit.edu	37	12	5021669	5021669	+	Nonsense_Mutation	SNP	C	C	A	rs144351014	byFrequency	TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr12:5021669C>A	ENST00000382545.3	+	2	2232	c.1125C>A	c.(1123-1125)taC>taA	p.Y375*	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	375					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTGTAGGATACGGTGACATGT	0.552000													49	181					4.64027e-19	8.45191e-19	1	1	0
SPRY3	10251	broad.mit.edu	37	X	155003733	155003733	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:155003733G>T	ENST00000302805.2	+	2	631	c.200G>T	c.(199-201)aGc>aTc	p.S67I		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	67					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						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)					CGCAGTCTCAGCCAGTGCCAT	0.547000													29	149					3.65163e-15	6.19189e-15	1	1	0
ZNF200	7752	broad.mit.edu	37	16	3274310	3274310	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr16:3274310C>A	ENST00000431561.3	-	5	1382	c.770G>T	c.(769-771)tGt>tTt	p.C257F	ZNF200_ENST00000396868.3_Missense_Mutation_p.C256F|ZNF200_ENST00000396871.4_Missense_Mutation_p.C256F|ZNF200_ENST00000575948.1_Missense_Mutation_p.C256F|ZNF200_ENST00000396870.4_Missense_Mutation_p.C256F|ZNF200_ENST00000414144.2_Missense_Mutation_p.C257F|AJ003147.9_ENST00000576468.1_RNA	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						CTGTTTCCCACACAGTGGACA	0.418000													18	26					1.33834e-09	1.8371e-09	1	1	0
FGA	2243	broad.mit.edu	37	4	155505594	155505594	+	Silent	SNP	A	A	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:155505594A>G	ENST00000302053.3	-	6	2361	c.2283T>C	c.(2281-2283)acT>acC	p.T761T		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	761	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)	CATCACCCGCAGTGCCTTCAT	0.532000													16	86					0	0	1	0	0
GUCA1A	2978	broad.mit.edu	37	6	42146578	42146578	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr6:42146578G>T	ENST00000394237.1	+	5	1366	c.390G>T	c.(388-390)atG>atT	p.M130I	GUCA1A_ENST00000372958.1_Missense_Mutation_p.M130I|GUCA1A_ENST00000541991.1_Missense_Mutation_p.M130I|GUCA1A_ENST00000053469.4_Missense_Mutation_p.M130I			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	130					signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ATACCACCATGACTGCAGAGG	0.602000													68	227					2.65773e-34	5.50649e-34	1	1	0
ZNF423	23090	broad.mit.edu	37	16	49671888	49671888	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr16:49671888C>A	ENST00000561648.1	-	4	1228	c.1175G>T	c.(1174-1176)cGg>cTg	p.R392L	ZNF423_ENST00000535559.1_Missense_Mutation_p.R275L|ZNF423_ENST00000567169.1_Missense_Mutation_p.R275L|ZNF423_ENST00000562871.1_Missense_Mutation_p.R332L|ZNF423_ENST00000563137.2_Missense_Mutation_p.R332L|ZNF423_ENST00000562520.1_Missense_Mutation_p.R332L|ZNF423_ENST00000262383.2_Missense_Mutation_p.R392L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	392					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTTCTGCCCCCGCAGCGGCTT	0.647000													7	54					8.12818e-05	9.33966e-05	1	1	0
UNC45B	146862	broad.mit.edu	37	17	33504107	33504107	+	Silent	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr17:33504107C>A	ENST00000268876.5	+	16	2200	c.2103C>A	c.(2101-2103)atC>atA	p.I701I	UNC45B_ENST00000433649.1_Silent_p.I699I|UNC45B_ENST00000394570.2_Silent_p.I699I|UNC45B_ENST00000378449.1_Silent_p.I620I|UNC45B_ENST00000591048.1_Silent_p.I620I	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	701					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)				TAGCAAAGATCGCTGCTGTCT	0.572000													70	51					1.37693e-34	2.86178e-34	1	1	0
HAND2	9464	broad.mit.edu	37	4	174450014	174450014	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:174450014G>T	ENST00000359562.4	-	1	1366	c.427C>A	c.(427-429)Ctg>Atg	p.L143M	HAND2-AS1_ENST00000515310.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000512099.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	143	Helix-loop-helix motif.				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			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)		CTGGTGGCCAGGCGCAGGGTC	0.607000													37	99					0.000509022	0.000565295	1	1	0
SCAF8	22828	broad.mit.edu	37	6	155145381	155145381	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr6:155145381C>T	ENST00000367178.3	+	17	2516	c.1940C>T	c.(1939-1941)cCa>cTa	p.P647L	SCAF8_ENST00000367186.4_Missense_Mutation_p.P713L|SCAF8_ENST00000417268.1_Missense_Mutation_p.P647L	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	647	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CCAGTGGCGCCAGCCGTGCCT	0.438000													42	127					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71535123	71535123	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr15:71535123G>C	ENST00000355327.3	+	5	734	c.600G>C	c.(598-600)agG>agC	p.R200S	THSD4_ENST00000261862.6_Missense_Mutation_p.R200S			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	200	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCCATTCCAGGTCCCAGGGAG	0.572000													6	82					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:155887393T>G	ENST00000368320.3	-	11	1362	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P			Q7Z7F0	K0907_HUMAN	KIAA0907	446	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567000													11	56					0	0	1	0	0
HIST1H2BH	8345	broad.mit.edu	37	6	26251994	26251994	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr6:26251994C>G	ENST00000356350.2	+	1	116	c.116C>G	c.(115-117)tCc>tGc	p.S39C		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	39					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						GAGAGCTACTCCGTATACGTT	0.552000													52	161					0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535943	69535943	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:69535943C>T	ENST00000338206.5	-	1	403	c.394G>A	c.(394-396)Gtt>Att	p.V132I		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	132					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TTATTCAAAACTGCATCTTTA	0.338000													25	53					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9016585	9016585	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr12:9016585G>A	ENST00000299698.7	+	29	3878	c.3698G>A	c.(3697-3699)gGg>gAg	p.G1233E	A2ML1_ENST00000539547.1_Missense_Mutation_p.G742E	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	1077						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						AATGCATATGGGGGCTTCTCT	0.483000													11	36					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17232302	17232302	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr16:17232302C>G	ENST00000261381.6	-	8	1758	c.1674G>C	c.(1672-1674)aaG>aaC	p.K558N	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	558					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGCAGCCCAGCTTGCGATTCC	0.582000													6	53					0	0	1	0	0
SUMO3	6612	broad.mit.edu	37	21	46228940	46228940	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr21:46228940C>G	ENST00000397898.3	-	3	326	c.244G>C	c.(244-246)Gtt>Ctt	p.V82L	SUMO3_ENST00000411651.2_Intron|SUMO3_ENST00000479153.1_Intron|SUMO3_ENST00000332859.6_Intron|SUMO3_ENST00000397893.3_Intron			P55854	SUMO3_HUMAN	small ubiquitin-like modifier 3	0	Ubiquitin-like.				protein sumoylation	cytoplasm|kinetochore	protein binding			prostate(1)	1				Colorectal(79;0.058)		CGCCCTGGAACCACGCGAAGC	0.498000													18	21					0	0	1	0	0
LMBR1	64327	broad.mit.edu	37	7	156518511	156518511	+	Silent	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr7:156518511G>A	ENST00000353442.4	-	13	1250	c.1014C>T	c.(1012-1014)gcC>gcT	p.A338A	LMBR1_ENST00000354505.4_Silent_p.A379A|LMBR1_ENST00000359422.4_Silent_p.A186A|LMBR1_ENST00000540390.1_Silent_p.A317A|LMBR1_ENST00000461603.1_5'UTR	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	338						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		TAGAAAGAGAGGCATTTCCTA	0.383000													16	29					0	0	1	0	0
SLC25A12	8604	broad.mit.edu	37	2	172666766	172666766	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:172666766C>A	ENST00000422440.2	-	12	1229	c.1192G>T	c.(1192-1194)Ggg>Tgg	p.G398W	SLC25A12_ENST00000392592.4_Missense_Mutation_p.G291W	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	398					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	GGAGCAACCCCTATAAGTTGT	0.383000													17	57					6.94344e-10	9.75318e-10	1	1	0
PKP3	11187	broad.mit.edu	37	11	396831	396831	+	Silent	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:396831C>A	ENST00000331563.2	+	3	406	c.330C>A	c.(328-330)gcC>gcA	p.A110A	PKP3_ENST00000530695.1_3'UTR	NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	110					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGCCCATCGCCAAGCCGGCCT	0.701000													4	30					0.184627	0.187168	1	1	0
LPPR4	9890	broad.mit.edu	37	1	99767377	99767377	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:99767377G>T	ENST00000370185.3	+	6	1387	c.890G>T	c.(889-891)cGg>cTg	p.R297L	LPPR4_ENST00000370184.1_Missense_Mutation_p.R139L|LPPR4_ENST00000457765.1_Intron	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		297							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GGGCTAACACGGATAACTCAG	0.373000													18	34					3.41278e-10	4.88699e-10	1	1	0
OR4K2	390431	broad.mit.edu	37	14	20344556	20344556	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr14:20344556C>T	ENST00000298642.2	+	1	166	c.130C>T	c.(130-132)Ctc>Ttc	p.L44F		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGGTAACAGCCTCATAGTCAT	0.403000													21	257					0	0	1	0	0
TCN1	6947	broad.mit.edu	37	11	59631429	59631429	+	Silent	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:59631429G>T	ENST00000257264.3	-	2	314	c.210C>A	c.(208-210)acC>acA	p.T70T	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	70					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTGCATCAGGGTTTGGATCT	0.363000													21	105					0.000229342	0.000258155	1	1	0
LTBP1	4052	broad.mit.edu	37	2	33586576	33586576	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:33586576T>A	ENST00000404816.2	+	28	4617	c.4264T>A	c.(4264-4266)Tat>Aat	p.Y1422N	LTBP1_ENST00000407925.1_Missense_Mutation_p.Y1096N|LTBP1_ENST00000418533.2_Missense_Mutation_p.Y1054N|LTBP1_ENST00000390003.4_Missense_Mutation_p.Y1097N|LTBP1_ENST00000402934.1_Missense_Mutation_p.Y1041N|LTBP1_ENST00000272273.5_Missense_Mutation_p.Y320N|LTBP1_ENST00000354476.3_Missense_Mutation_p.Y1423N|LTBP1_ENST00000404525.1_Missense_Mutation_p.Y1043N			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1422					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGGTGAGAACTATAAAGGTCA	0.393000													13	30					0	0	1	0	0
NOL9	79707	broad.mit.edu	37	1	6589213	6589213	+	Missense_Mutation	SNP	C	C	T	rs139155763	by1000genomes	TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:6589213C>T	ENST00000377705.5	-	10	1698	c.1666G>A	c.(1666-1668)Gca>Aca	p.A556T		NM_024654.4	NP_078930.3	Q5SY16	NOL9_HUMAN	nucleolar protein 9	556					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		ATCCGGAGTGCGACTGCATTG	0.448000													16	14					0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23316947	23316947	+	Silent	SNP	C	C	A	rs11670477	by1000genomes	TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:23316947C>A	ENST00000597761.2	+	2	268	c.69C>A	c.(67-69)acC>acA	p.T23T	ZNF730_ENST00000593635.1_5'UTR	NM_001277403.1	NP_001264332.1			zinc finger protein 730									p.T23T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						GTCTGGACACCGAACAACAGA	0.373000													21	54					1.28384e-07	1.656e-07	1	1	0
GIP	2695	broad.mit.edu	37	17	47039174	47039174	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr17:47039174G>T	ENST00000357424.2	-	4	365	c.265C>A	c.(265-267)Cac>Aac	p.H89N		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	89					energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity			lung(2)|skin(1)|stomach(1)	4						GTGATGTTGTGTTTCCAGCTG	0.542000													20	28					2.4624e-09	3.33859e-09	1	1	0
ZEB1	6935	broad.mit.edu	37	10	31809312	31809312	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr10:31809312C>T	ENST00000446923.2	+	7	1392	c.1001C>T	c.(1000-1002)cCt>cTt	p.P334L	ZEB1_ENST00000320985.10_Missense_Mutation_p.P350L|ZEB1_ENST00000560721.2_Missense_Mutation_p.P330L|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.P351L|ZEB1_ENST00000542815.3_Missense_Mutation_p.P283L	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	350					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAACTGAACCTGTGGATTAT	0.433000													12	29					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807506	143807506	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr7:143807506C>A	ENST00000408979.2	+	1	900	c.831C>A	c.(829-831)caC>caA	p.H277Q		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	277					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)					CCCTGTTTCACAGTGTCTTTA	0.502000													19	131					7.21436e-19	1.3033e-18	1	1	0
ABHD16B	140701	broad.mit.edu	37	20	62493648	62493648	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr20:62493648C>T	ENST00000369916.3	+	1	1083	c.755C>T	c.(754-756)aCg>aTg	p.T252M		NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	252							hydrolase activity			endometrium(2)|kidney(1)|lung(3)	6						GGCGGCTTCACGGCCACCTGG	0.677000													7	21					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323523	79323523	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr9:79323523C>A	ENST00000428286.1	-	8	3790	c.2590G>T	c.(2590-2592)Gtc>Ttc	p.V864F	PRUNE2_ENST00000376718.3_Missense_Mutation_p.V1223F			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1223					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCTCTCATGACAGAATCCCAA	0.453000													10	34					2.17888e-05	2.56589e-05	1	1	0
CLCN1	1180	broad.mit.edu	37	7	143039091	143039091	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr7:143039091G>T	ENST00000343257.2	+	15	1739	c.1652G>T	c.(1651-1653)gGt>gTt	p.G551V		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	551					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)					GAATTAACGGGTCAGATTGCT	0.537000													10	70					2.17888e-05	2.56589e-05	1	1	0
PLXNB3	5365	broad.mit.edu	37	X	153033130	153033130	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:153033130G>A	ENST00000538966.1	+	4	1188	c.917G>A	c.(916-918)tGc>tAc	p.C306Y	PLXNB3_ENST00000361971.5_Missense_Mutation_p.C283Y|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538776.1_Intron	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	283	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCTCGCCTGCCAGGGCCAG	0.736000													6	14					0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59924471	59924471	+	Silent	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr17:59924471C>T	ENST00000259008.2	-	6	885	c.618G>A	c.(616-618)tcG>tcA	p.S206S	BRIP1_ENST00000577598.1_Silent_p.S206S	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	206	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTTTCTGTGGCGAAAAGGAGT	0.328000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					4	36					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130412477	130412477	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:130412477C>G	ENST00000370904.1	-	18	2882	c.1972G>C	c.(1972-1974)Gct>Cct	p.A658P	IGSF1_ENST00000361420.3_Missense_Mutation_p.A667P|IGSF1_ENST00000370910.1_Missense_Mutation_p.A658P|IGSF1_ENST00000370903.3_Missense_Mutation_p.A672P			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	667	Ig-like C2-type 6.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCCGATACAGCCATCTCCTCC	0.632000													46	101					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22270955	22270955	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:22270955C>A	ENST00000594947.1	+	4	547	c.403C>A	c.(403-405)Caa>Aaa	p.Q135K	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGGACTTAACCAATGTCTGAT	0.318000													7	21					0.000274275	0.00030717	1	1	0
MCM3	4172	broad.mit.edu	37	6	52141265	52141265	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr6:52141265C>A	ENST00000596288.1	-	9	1337	c.1310G>T	c.(1309-1311)cGt>cTt	p.R437L	MCM3_ENST00000229854.7_Missense_Mutation_p.R392L|MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Missense_Mutation_p.R346L	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	392	MCM.				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	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					TGCTTCCAGACGGCGCTCTCC	0.502000													9	33					3.09899e-07	3.95121e-07	1	1	0
SPATA4	132851	broad.mit.edu	37	4	177114695	177114695	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:177114695C>A	ENST00000280191.2	-	2	365	c.257G>T	c.(256-258)tGt>tTt	p.C86F	SPATA4_ENST00000515234.1_5'UTR	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	86					apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		gtaatatatacagaatatttc	0.348000													5	14					0.014758	0.0152407	1	1	0
KCNH6	81033	broad.mit.edu	37	17	61619715	61619715	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr17:61619715C>G	ENST00000583023.1	+	9	2079	c.2068C>G	c.(2068-2070)Ctg>Gtg	p.L690V	KCNH6_ENST00000581784.1_Missense_Mutation_p.L637V|KCNH6_ENST00000456941.2_Missense_Mutation_p.L637V|KCNH6_ENST00000314672.5_Missense_Mutation_p.L690V	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	690					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GCGGGCAGATCTGCTGGAGGT	0.627000													8	106					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94049898	94049898	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr7:94049898G>T	ENST00000297268.6	+	37	2704	c.2233G>T	c.(2233-2235)Ggg>Tgg	p.G745W		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	745			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AGGAGCCAAAGGGCCTAAGGG	0.542000										HNSCC(75;0.22)			6	13					0.0215528	0.0221199	1	1	0
CXorf23	256643	broad.mit.edu	37	X	19984302	19984302	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:19984302C>A	ENST00000379687.3	-	2	540	c.507G>T	c.(505-507)tgG>tgT	p.W169C	CXorf23_ENST00000379682.4_Missense_Mutation_p.W169C|CXorf23_ENST00000356980.3_Missense_Mutation_p.W169C	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	169						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						CATCTTCATGCCACTTTCCTT	0.443000													24	51					6.21321e-17	1.08404e-16	1	1	0
ZNF683	257101	broad.mit.edu	37	1	26694176	26694176	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:26694176C>A	ENST00000436292.1	-	3	347	c.227G>T	c.(226-228)tGc>tTc	p.C76F	ZNF683_ENST00000403843.1_Missense_Mutation_p.C76F|ZNF683_ENST00000374204.1_Missense_Mutation_p.C76F|ZNF683_ENST00000349618.3_Missense_Mutation_p.C76F			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	76					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)		GTCCTGTAGGCAGGCCAGCAG	0.647000													23	20					1.1804e-14	1.99136e-14	1	1	0
ANK2	287	broad.mit.edu	37	4	114276327	114276327	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:114276327G>T	ENST00000357077.4	+	38	6606	c.6553G>T	c.(6553-6555)Gat>Tat	p.D2185Y	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.D2152Y|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2152					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTACATGAAAGATGAGTTCCT	0.483000													26	37					5.45024e-15	9.21814e-15	1	1	0
GSC	145258	broad.mit.edu	37	14	95234895	95234895	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr14:95234895G>A	ENST00000238558.3	-	3	916	c.707C>T	c.(706-708)tCg>tTg	p.S236L		NM_173849.2	NP_776248.1	P56915	GSC_HUMAN	goosecoid homeobox	236					gastrulation|middle ear morphogenesis		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		all_cancers(154;0.0896)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)		CTTCGACGACGACGTCTTGTT	0.582000													28	164					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049812	69049812	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:69049812G>A	ENST00000295381.3	+	10	1957	c.1538G>A	c.(1537-1539)gGg>gAg	p.G513E	ARHGAP25_ENST00000409202.3_Missense_Mutation_p.G514E|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.G506E|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.G207E|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.G474E|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.G507E	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	513					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GGGTCCCCTGGGGAGGAAGCC	0.547000													28	121					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276851	152276851	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:152276851G>A	ENST00000368799.1	-	3	10546	c.10511C>T	c.(10510-10512)tCg>tTg	p.S3504L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3504	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)			ATGGTGATGCGACCATGAGTG	0.582000									Ichthyosis				37	388					0	0	1	0	0
VPS26B	112936	broad.mit.edu	37	11	134109948	134109948	+	Silent	SNP	A	A	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:134109948A>C	ENST00000281187.5	+	3	922	c.444A>C	c.(442-444)gtA>gtC	p.V148V	VPS26B_ENST00000530402.1_3'UTR|VPS26B_ENST00000525095.2_Silent_p.V148V	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	148					protein transport|vacuolar transport	cytosol|retromer complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		TGGACATTGTAGTTCACACAC	0.453000													12	50					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66467609	66467609	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:66467609G>T	ENST00000273854.3	-	3	1260	c.660C>A	c.(658-660)tgC>tgA	p.C220*	EPHA5_ENST00000511294.1_Nonsense_Mutation_p.C220*|EPHA5_ENST00000354839.4_Nonsense_Mutation_p.C220*|EPHA5_ENST00000432638.2_Nonsense_Mutation_p.C220*	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	220	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CCAGAGCAATGCAAGCACCAA	0.438000										TSP Lung(17;0.13)			15	42					2.61681e-11	3.93412e-11	1	1	0
PLIN1	5346	broad.mit.edu	37	15	90210245	90210245	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr15:90210245C>A	ENST00000300055.5	-	8	1296	c.1131G>T	c.(1129-1131)aaG>aaT	p.K377N	PLIN1_ENST00000430628.2_Missense_Mutation_p.K377N	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	377					triglyceride catabolic process	lipid particle	lipid binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						TGGCCCTCCCCTTGGTTGAGG	0.612000													6	46					3.59834e-05	4.20758e-05	1	1	0
ZBTB41	360023	broad.mit.edu	37	1	197168774	197168774	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:197168774G>C	ENST00000367405.4	-	1	898	c.830C>G	c.(829-831)tCa>tGa	p.S277*	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						CAAATTGTCTGACCCATCACC	0.403000													6	70					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84605947	84605947	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr9:84605947C>A	ENST00000344803.2	+	4	609	c.562C>A	c.(562-564)Cct>Act	p.P188T		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		AATACTGTCCCCTCGGCCTAA	0.557000													26	70					2.61193e-14	4.34013e-14	1	1	0
ZNF468	90333	broad.mit.edu	37	19	53345090	53345090	+	Missense_Mutation	SNP	T	T	A	rs140725847	byFrequency	TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:53345090T>A	ENST00000595646.1	-	4	577	c.457A>T	c.(457-459)Ata>Tta	p.I153L	ZNF468_ENST00000396409.4_Missense_Mutation_p.I100L|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.I100L|ZNF468_ENST00000243639.4_3'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		GACTGAAATATGTGCGGTTCA	0.418000													30	119					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102496174	102496174	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr14:102496174G>T	ENST00000360184.4	+	50	9825	c.9661G>T	c.(9661-9663)Gac>Tac	p.D3221Y		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3221	Stalk (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACTGCGTCGTGACTTGAGGAT	0.478000													25	69					3.01185e-09	4.07522e-09	1	1	0
KDM5C	8242	broad.mit.edu	37	X	53226203	53226203	+	Silent	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:53226203G>A	ENST00000452825.3	-	17	2977	c.2445C>T	c.(2443-2445)gcC>gcT	p.A815A	KDM5C_ENST00000375379.3_Silent_p.A882A|KDM5C_ENST00000375383.3_Silent_p.A841A|KDM5C_ENST00000375401.3_Silent_p.A882A|KDM5C_ENST00000404049.3_Silent_p.A881A	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	882					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						CAGCCTGGTAGGCCTCCACCT	0.632000			"""N, F, S"""		clear cell renal carcinoma								3	13					0	0	1	0	0
BIRC5	332	broad.mit.edu	37	17	76210855	76210855	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr17:76210855C>T	ENST00000301633.4	+	2	337	c.206C>T	c.(205-207)cCa>cTa	p.P69L	BIRC5_ENST00000590449.1_Missense_Mutation_p.P69L|AC087645.1_ENST00000600484.1_Missense_Mutation_p.G291S|BIRC5_ENST00000350051.3_Missense_Mutation_p.P69L|BIRC5_ENST00000592734.1_Missense_Mutation_p.P69L|BIRC5_ENST00000374948.2_Missense_Mutation_p.P69L	NM_001012271.1	NP_001012271.1	O15392	BIRC5_HUMAN	baculoviral IAP repeat containing 5	69					anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			GGCTGGGAGCCAGATGACGAC	0.522000													5	34					0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153072736	153072736	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:153072736C>G	ENST00000164640.4	-	3	576	c.385G>C	c.(385-387)Gag>Cag	p.E129Q	PDZD4_ENST00000393758.2_Missense_Mutation_p.E54Q|PDZD4_ENST00000544474.1_Intron|PDZD4_ENST00000475140.1_5'UTR	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	129						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGCTCACCTCATACTCCAGC	0.692000													5	25					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210977316	210977316	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:210977316G>T	ENST00000367007.4	-	8	1743	c.1574C>A	c.(1573-1575)aCa>aAa	p.T525K	KCNH1_ENST00000271751.4_Missense_Mutation_p.T552K	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	552					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TACCTTCTCTGTGTCAATGCC	0.493000													70	47					1.43675e-24	2.82661e-24	1	1	0
ZSCAN18	65982	broad.mit.edu	37	19	58596175	58596175	+	Silent	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:58596175C>T	ENST00000240727.6	-	7	1809	c.1410G>A	c.(1408-1410)gcG>gcA	p.A470A	ZSCAN18_ENST00000421612.2_Silent_p.A334A|ZSCAN18_ENST00000601144.1_Silent_p.A470A|ZSCAN18_ENST00000600404.1_Silent_p.A526A	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	470					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGCCCCCCAGCGCGTAGCTTT	0.721000													6	12					0	0	1	0	0
CHRNA10	57053	broad.mit.edu	37	11	3690490	3690490	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:3690490C>A	ENST00000250699.2	-	3	369	c.298G>T	c.(298-300)Ggc>Tgc	p.G100C	CHRNA10_ENST00000534359.1_5'UTR|CHRNA10_ENST00000493827.2_5'UTR	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	100					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	GCATCCAGGCCACCATAGGCA	0.577000													15	33					6.94344e-10	9.75318e-10	1	1	0
NHLRC1	378884	broad.mit.edu	37	6	18121925	18121925	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr6:18121925C>T	ENST00000340650.3	-	1	926	c.913G>A	c.(913-915)Ggc>Agc	p.G305S		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	305					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			TCCACTTGGCCGACAAGCTGC	0.557000													7	92					0	0	1	0	0
HAS1	3036	broad.mit.edu	37	19	52220305	52220305	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:52220305T>A	ENST00000540069.2	-	3	901	c.841A>T	c.(841-843)Agc>Tgc	p.S281C	HAS1_ENST00000601714.1_Missense_Mutation_p.S289C|HAS1_ENST00000222115.1_Missense_Mutation_p.S282C|HAS1_ENST00000594621.1_Missense_Mutation_p.S136C			Q92839	HAS1_HUMAN	hyaluronan synthase 1	282					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TATCGCAGGCTGCTTAGGAAG	0.607000													32	104					0	0	1	0	0
ZNF577	84765	broad.mit.edu	37	19	52376751	52376751	+	Silent	SNP	C	C	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:52376751C>G	ENST00000420592.1	-	6	1648	c.315G>C	c.(313-315)ggG>ggC	p.G105G	ZNF577_ENST00000451628.2_Silent_p.G105G|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000301399.5_Silent_p.G164G|ZNF577_ENST00000485702.1_Intron			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AGAAGGCTCTCCCGCACACAC	0.448000													25	74					0	0	1	0	0
SLC35G5	83650	broad.mit.edu	37	8	11188719	11188719	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr8:11188719G>A	ENST00000382435.4	+	1	323	c.104G>A	c.(103-105)gGt>gAt	p.G35D		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	35						integral to membrane		p.G35D(1)									CAGCCCTCTGGTGCCACCAAT	0.682000													4	73					0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47250580	47250580	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:47250580G>T	ENST00000319190.5	+	13	1912	c.1544G>T	c.(1543-1545)cGg>cTg	p.R515L	TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Missense_Mutation_p.R481L|TTC7A_ENST00000394850.2_Missense_Mutation_p.R515L|TTC7A_ENST00000263737.6_Missense_Mutation_p.R161L	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	515							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GAATTGCACCGGAAGGCACTG	0.602000													18	53					1.37522e-17	2.42493e-17	1	1	0
NRXN3	9369	broad.mit.edu	37	14	79181272	79181272	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr14:79181272C>A	ENST00000554719.1	+	5	1206	c.715C>A	c.(715-717)Cgc>Agc	p.R239S	NRXN3_ENST00000335750.5_Missense_Mutation_p.R239S	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGGCTGCATCCGCGACCTATT	0.572000													18	64					1.99824e-07	2.5675e-07	1	1	0
FGF10	2255	broad.mit.edu	37	5	44388470	44388470	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr5:44388470G>C	ENST00000264664.4	-	1	429	c.315C>G	c.(313-315)aaC>aaG	p.N105K		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	105					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)					TGTACGGGCAGTTCTCCTTCT	0.502000													16	108					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155518	22155518	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:22155518A>C	ENST00000397126.4	-	4	2466	c.2318T>G	c.(2317-2319)gTa>gGa	p.V773G	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGGTTTCTCTACAGTATGAAT	0.358000													4	30					0	0	1	0	0
SLC15A1	6564	broad.mit.edu	37	13	99368140	99368140	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr13:99368140A>C	ENST00000376503.5	-	9	770	c.715T>G	c.(715-717)Tgc>Ggc	p.C239G		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	239					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	ACACCGATGCACTTGGCCACT	0.418000													13	75					0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811835	23811835	+	Silent	SNP	T	T	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr15:23811835T>G	ENST00000314520.3	+	1	1382	c.906T>G	c.(904-906)gcT>gcG	p.A302A	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	302						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TCTCGTTTGCTGTGCAGCGTG	0.532000													13	34					0	0	1	0	0
C19orf18	147685	broad.mit.edu	37	19	58485798	58485798	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:58485798C>A	ENST00000314391.3	-	1	104	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	1						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		GAACCTTGTCCATCACTCTCA	0.388000													7	32					0.0381472	0.0390303	1	1	0
KLHDC8A	55220	broad.mit.edu	37	1	205312586	205312586	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:205312586G>C	ENST00000367156.3	-	5	963	c.147C>G	c.(145-147)ttC>ttG	p.F49L	KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.F49L|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.F49L	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	49										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGTAGACCTCGAAGCAGTCCA	0.711000													77	54					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131826346	131826346	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr8:131826346C>G	ENST00000286355.5	-	14	4974	c.2882G>C	c.(2881-2883)cGc>cCc	p.R961P	ADCY8_ENST00000377928.3_Missense_Mutation_p.R830P	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	961					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)			TAGGAAATGGCGGGCCACATG	0.522000										HNSCC(32;0.087)			99	57					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57335705	57335705	+	Missense_Mutation	SNP	G	G	C	rs141346770	by1000genomes	TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:57335705G>C	ENST00000326441.9	-	4	682	c.319C>G	c.(319-321)Cga>Gga	p.R107G	ZIM2_ENST00000593711.1_5'UTR|PEG3_ENST00000593695.1_5'UTR|ZIM2_ENST00000601070.1_5'UTR|PEG3_ENST00000423103.2_Missense_Mutation_p.R107G|ZIM2_ENST00000391708.3_5'UTR|ZIM2_ENST00000599935.1_5'UTR|PEG3_ENST00000598410.1_5'UTR|ZIM2_ENST00000221722.5_5'UTR|PEG3_ENST00000594706.1_5'UTR	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	107	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTTTTGCTCGCACCCAAGGC	0.537000													22	82					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41061748	41061748	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr5:41061748T>A	ENST00000399564.4	-	6	989	c.539A>T	c.(538-540)aAc>aTc	p.N180I		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AGACAGTCGGTTGGCATCCAG	0.483000													102	86					0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243354504	243354504	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:243354504C>A	ENST00000366542.1	-	8	975	c.924G>T	c.(922-924)aaG>aaT	p.K308N	CEP170_ENST00000366543.1_Missense_Mutation_p.K308N|CEP170_ENST00000366544.1_Missense_Mutation_p.K308N	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	308						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			ACTTCTTGGACTTGTGGCGCT	0.453000													7	13					1.58986e-06	1.9629e-06	1	1	0
IL6ST	3572	broad.mit.edu	37	5	55238511	55238511	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr5:55238511T>A	ENST00000381298.2	-	16	2318	c.2006A>T	c.(2005-2007)cAc>cTc	p.H669L	IL6ST_ENST00000336909.5_Missense_Mutation_p.H669L|IL6ST_ENST00000381286.3_Missense_Mutation_p.T45S|IL6ST_ENST00000381294.3_Missense_Mutation_p.H608L|IL6ST_ENST00000381293.2_Missense_Mutation_p.T182S|IL6ST_ENST00000502326.3_Missense_Mutation_p.H669L|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000536319.1_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	669					interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TGGAGGAGTGTGAGGTGACCA	0.358000			O		hepatocellular ca								4	26					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237955570	237955570	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:237955570A>G	ENST00000366574.2	+	94	14046	c.13729A>G	c.(13729-13731)Att>Gtt	p.I4577V	RYR2_ENST00000360064.6_Missense_Mutation_p.I4583V|RYR2_ENST00000542537.1_Missense_Mutation_p.I4561V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4577					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TATCTTAGCTATTCTGCACAC	0.473000													46	34					0	0	1	0	0
RTKN2	219790	broad.mit.edu	37	10	63964761	63964761	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr10:63964761C>A	ENST00000373789.3	-	10	1137	c.1041G>T	c.(1039-1041)atG>atT	p.M347I	RTKN2_ENST00000395265.1_Missense_Mutation_p.M368I|RTKN2_ENST00000315289.2_Missense_Mutation_p.M149I	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	347	PH.				signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					CATCCTTATCCATTGCCCGGA	0.343000													10	38					3.86212e-05	4.50015e-05	1	1	0
HAS3	3038	broad.mit.edu	37	16	69148368	69148368	+	Silent	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr16:69148368G>A	ENST00000306560.1	+	4	1017	c.861G>A	c.(859-861)ttG>ttA	p.L287L	HAS3_ENST00000569188.1_Silent_p.L287L|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	287					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GTGGGCCCTTGGGCATGTACC	0.587000													18	76					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41839446	41839446	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr8:41839446G>C	ENST00000396930.3	-	5	1279	c.736C>G	c.(736-738)Cct>Gct	p.P246A	KAT6A_ENST00000485568.1_Missense_Mutation_p.P246A|KAT6A_ENST00000406337.1_Missense_Mutation_p.P246A|KAT6A_ENST00000265713.2_Missense_Mutation_p.P246A	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	246					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GTTAGTTCAGGGGAAAACTTT	0.418000													30	24					0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60345525	60345525	+	RNA	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr17:60345525G>T	ENST00000581291.1	-	0	826																				breast(2)|kidney(1)|lung(2)	5						CATGGTCTTGGGTAGTGACGT	0.622000													12	160					1.33834e-09	1.8371e-09	1	1	0
GIMAP7	168537	broad.mit.edu	37	7	150217451	150217451	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr7:150217451T>A	ENST00000313543.4	+	2	546	c.389T>A	c.(388-390)tTg>tAg	p.L130*		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	130							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)		ATGGTCATCTTGTTCACTCGC	0.527000													20	28					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3807317	3807317	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr16:3807317C>A	ENST00000262367.5	-	19	4479	c.3670G>T	c.(3670-3672)Gat>Tat	p.D1224Y	CREBBP_ENST00000382070.3_Missense_Mutation_p.D1186Y	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1224	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TAGGCAGCATCGCGAGGAATG	0.418000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						5	14					8.12818e-05	9.33966e-05	1	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			4	13					0.00909568	0.00954183	1	1	0
MROH5	389690	broad.mit.edu	37	8	142480703	142480703	+	RNA	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr8:142480703G>T	ENST00000430863.1	-	0	2246					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		TGACCTTGATGACTTGGAAGC	0.597000													14	5					6.72482e-11	9.86407e-11	1	1	0
OR51E1	143503	broad.mit.edu	37	11	4673771	4673771	+	Silent	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:4673771C>A	ENST00000396952.5	+	2	665	c.15C>A	c.(13-15)ccC>ccA	p.P5P	OR51E1_ENST00000530215.1_Silent_p.P5P	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGTGGATCCCAATGGCAATG	0.493000													24	71					9.86323e-18	1.74848e-17	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26173681	26173681	+	Silent	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr22:26173681C>A	ENST00000335473.7	+	8	2251	c.2001C>A	c.(1999-2001)acC>acA	p.T667T	MYO18B_ENST00000407587.2_Silent_p.T667T|MYO18B_ENST00000536101.1_Silent_p.T667T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	667	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						CTGGGAAGACCACCTGCTGTG	0.622000													17	62					3.32936e-07	4.22058e-07	1	1	0
PLAU	5328	broad.mit.edu	37	10	75675131	75675131	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr10:75675131C>A	ENST00000446342.1	+	9	1524	c.1042C>A	c.(1042-1044)Cca>Aca	p.P348T	PLAU_ENST00000372762.4_Missense_Mutation_p.P329T|PLAU_ENST00000372764.3_Missense_Mutation_p.P365T|C10orf55_ENST00000412307.2_Intron|C10orf55_ENST00000409178.1_Intron	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	365	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	TGCTGCTGACCCACAGTGGAA	0.532000													11	59					0.000673444	0.000738006	1	1	0
TGM6	343641	broad.mit.edu	37	20	2411247	2411247	+	Splice_Site	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr20:2411247G>T	ENST00000202625.2	+	11	1894		c.e11+1		TGM6_ENST00000381423.1_Splice_Site	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6						cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CACCATCAAGGTGACCTCAGC	0.547000													12	14					0.000978159	0.0010684	1	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33565440	33565440	+	Silent	SNP	A	A	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:33565440A>T	ENST00000321505.4	+	1	1620	c.1440A>T	c.(1438-1440)ctA>ctT	p.L480L	KIAA1549L_ENST00000265654.5_Silent_p.L480L|KIAA1549L_ENST00000389726.3_Silent_p.L480L					KIAA1549-like																		TTCAGGATCTAGTCCTCGGTA	0.463000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	75					0	0	1	0	0
IQSEC2	23096	broad.mit.edu	37	X	53278000	53278000	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:53278000C>G	ENST00000396435.3	-	6	2562	c.2362G>C	c.(2362-2364)Gtg>Ctg	p.V788L	IQSEC2_ENST00000375368.5_Missense_Mutation_p.V778L|IQSEC2_ENST00000375365.2_Missense_Mutation_p.V583L	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	778	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						AAGTGAGCCACTCCCACCGGT	0.557000													6	36					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18301212	18301212	+	Silent	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr22:18301212C>A	ENST00000441493.2	-	26	4567	c.4215G>T	c.(4213-4215)cgG>cgT	p.R1405R		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1405	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CGGACGGGGACCGGGGGGTTG	0.662000													34	77					1.86277e-20	3.48875e-20	1	1	0
ZNF679	168417	broad.mit.edu	37	7	63726766	63726766	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr7:63726766C>T	ENST00000421025.1	+	5	1024	c.755C>T	c.(754-756)tCc>tTc	p.S252F	ZNF679_ENST00000255746.4_Missense_Mutation_p.S252F	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TTTACCTGGTCCTCAACCCTT	0.423000													20	33					0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48428877	48428877	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr10:48428877G>A	ENST00000224605.2	-	2	1274	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	337					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CGGTCTTTGCGCCCTGGCCGG	0.672000													6	59					0	0	1	0	0
MPZL1	9019	broad.mit.edu	37	1	167757140	167757140	+	Silent	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:167757140G>T	ENST00000359523.2	+	6	994	c.792G>T	c.(790-792)gcG>gcT	p.A264A	MPZL1_ENST00000392121.3_Silent_p.A114A|MPZL1_ENST00000403379.3_3'UTR	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	264					cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					TGGTGTATGCGGATATCCGAA	0.448000													45	21					2.61675e-31	5.3218e-31	1	1	0
KEL	3792	broad.mit.edu	37	7	142658954	142658954	+	Silent	SNP	A	A	T	rs8175960	byFrequency	TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr7:142658954A>T	ENST00000355265.2	-	2	483	c.9T>A	c.(7-9)ggT>ggA	p.G3G	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	3					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.G3G(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TTTGGTCCCCACCTTCCTGAA	0.547000													33	144					0	0	1	0	0
ATXN2	6311	broad.mit.edu	37	12	111951265	111951265	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr12:111951265C>A	ENST00000377617.3	-	11	2095	c.1934G>T	c.(1933-1935)aGt>aTt	p.S645I	ATXN2_ENST00000389153.4_Missense_Mutation_p.S380I|ATXN2_ENST00000550104.1_Missense_Mutation_p.S645I|ATXN2_ENST00000542287.2_Missense_Mutation_p.S380I|ATXN2_ENST00000535949.1_Missense_Mutation_p.S356I	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	645	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TTCTAGGCCACTGGATATGGA	0.542000													11	26					3.07112e-06	3.7224e-06	1	1	0
ZNF730	100129543	broad.mit.edu	37	19	23316946	23316946	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:23316946C>A	ENST00000597761.2	+	2	267	c.68C>A	c.(67-69)aCc>aAc	p.T23N	ZNF730_ENST00000593635.1_5'UTR	NM_001277403.1	NP_001264332.1			zinc finger protein 730											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						TGTCTGGACACCGAACAACAG	0.373000													20	53					1.2644e-06	1.57297e-06	1	1	0
WDR53	348793	broad.mit.edu	37	3	196288032	196288032	+	Silent	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr3:196288032C>A	ENST00000332629.5	-	3	882	c.315G>T	c.(313-315)acG>acT	p.T105T	WDR53_ENST00000433160.1_Intron|WDR53_ENST00000429115.1_Intron	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	105										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GCAGGTTTTCCGTTTGATTCA	0.398000													26	59					7.41945e-09	9.83819e-09	1	1	0
HAND2	9464	broad.mit.edu	37	4	174450125	174450125	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:174450125G>A	ENST00000359562.4	-	1	1255	c.316C>T	c.(316-318)Cgc>Tgc	p.R106C	HAND2-AS1_ENST00000515310.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000512099.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	106					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			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)		CGCTCCTTGCGGTTGGCGGTG	0.716000													8	85					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110864571	110864571	+	Silent	SNP	A	A	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:110864571A>T	ENST00000265171.5	+	3	934	c.489A>T	c.(487-489)gtA>gtT	p.V163V	EGF_ENST00000509793.1_Silent_p.V163V|EGF_ENST00000502723.1_3'UTR|EGF_ENST00000503392.1_Silent_p.V163V	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	163					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CTGCAAATGTAGCAGTTGATC	0.289000													11	24					0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10907864	10907864	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr6:10907864G>T	ENST00000283141.6	+	10	1062	c.766G>T	c.(766-768)Gat>Tat	p.D256Y	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_Missense_Mutation_p.D97Y	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	256						nucleus				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)			ATGGTTTGATGATGAAGTCAT	0.363000													13	60					0.00185496	0.00199974	1	1	0
OR7E24	26648	broad.mit.edu	37	19	9362622	9362622	+	Silent	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:9362622C>A	ENST00000456448.1	+	1	1017	c.903C>A	c.(901-903)ccC>ccA	p.P301P		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TGGTCACCCCCATGCTGAACC	0.493000													21	36					1.10923e-09	1.545e-09	1	1	0
COL4A6	1288	broad.mit.edu	37	X	107464502	107464502	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:107464502G>T	ENST00000334504.7	-	4	480	c.247C>A	c.(247-249)Ctt>Att	p.L83I	COL4A6_ENST00000372216.4_Missense_Mutation_p.L84I|COL4A6_ENST00000545689.1_Missense_Mutation_p.L83I|COL4A6_ENST00000538570.1_Missense_Mutation_p.L83I|COL4A6_ENST00000394872.2_Missense_Mutation_p.L83I	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	84	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGTCCCAGAAGGCCTGGGAAA	0.468000									Alport syndrome with Diffuse Leiomyomatosis				32	77					3.11337e-16	5.36147e-16	1	1	0
NLRP14	338323	broad.mit.edu	37	11	7064522	7064522	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:7064522C>A	ENST00000299481.4	+	4	1611	c.1265C>A	c.(1264-1266)gCc>gAc	p.A422D		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	422	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CCCAACCAAGCCCAGCTGAGA	0.458000													29	100					2.08457e-15	3.55288e-15	1	1	0
KCNG1	3755	broad.mit.edu	37	20	49621045	49621045	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr20:49621045C>T	ENST00000371571.4	-	3	1358	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H	RP5-955M13.3_ENST00000506387.1_RNA|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	358						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CAGGGAGTGGCGCGCCAGGCG	0.721000													7	22					0	0	1	0	0
IREB2	3658	broad.mit.edu	37	15	78790420	78790420	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr15:78790420G>T	ENST00000258886.8	+	22	2976	c.2827G>T	c.(2827-2829)Gat>Tat	p.D943Y		NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	943							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GTTTGAAGATGATGTGGAAAT	0.358000													4	29					0.184627	0.187168	1	1	0
SCAMP5	192683	broad.mit.edu	37	15	75309074	75309074	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr15:75309074A>G	ENST00000361900.6	+	5	484	c.277A>G	c.(277-279)Att>Gtt	p.I93V	SCAMP5_ENST00000565923.1_3'UTR|SCAMP5_ENST00000562212.1_Missense_Mutation_p.I93V|SCAMP5_ENST00000545456.1_Intron|SCAMP5_ENST00000425597.3_Missense_Mutation_p.I93V	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	93					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						GTTTCGGCCCATTTACAAGGC	0.557000													8	73					0	0	1	0	0
IGKV6-21	28906	broad.mit.edu	37	2	89459320	89459320	+	RNA	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:89459320G>T	ENST00000390256.2	-	0	320																											ATCTGTCCCAGATCCACTGCC	0.493000													25	93					1.26454e-06	1.57297e-06	1	1	0
DGCR8	54487	broad.mit.edu	37	22	20094161	20094161	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr22:20094161G>T	ENST00000351989.3	+	11	2365	c.1936G>T	c.(1936-1938)Ggg>Tgg	p.G646W	DGCR8_ENST00000383024.2_Missense_Mutation_p.G613W|DGCR8_ENST00000407755.1_Missense_Mutation_p.G613W	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	646	DRBM 2.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGTGGTTCCTGGGAAAAACCA	0.552000													28	76					5.45727e-16	9.32518e-16	1	1	0
DSC3	1825	broad.mit.edu	37	18	28576871	28576871	+	Silent	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr18:28576871C>A	ENST00000434452.1	-	15	2533	c.2379G>T	c.(2377-2379)cgG>cgT	p.R793R	DSC3_ENST00000360428.4_Silent_p.R793R	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	793					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GCCCAGCCCCCCGGCAGGATT	0.512000													11	44					0.000978159	0.0010684	1	1	0
SREBF1	6720	broad.mit.edu	37	17	17720656	17720656	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr17:17720656A>G	ENST00000355815.4	-	9	1779	c.1610T>C	c.(1609-1611)cTg>cCg	p.L537P	SREBF1_ENST00000395757.1_Missense_Mutation_p.L253P|SREBF1_ENST00000261646.5_Missense_Mutation_p.L507P|SREBF1_ENST00000338854.5_Missense_Mutation_p.L507P	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	507					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CCGGGCCCCCAGCAAGGAGGC	0.701000													6	9					0	0	1	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1606406	1606406	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:1606406C>A	ENST00000382171.2	-	1	107	c.74G>T	c.(73-75)gGc>gTc	p.G25V	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	25						keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACAGCCGGAGCCACAGCCCCC	0.682000													55	127					2.48254e-18	4.43646e-18	1	1	0
MYO3B	140469	broad.mit.edu	37	2	171070900	171070900	+	Silent	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:171070900G>T	ENST00000334231.6	+	4	360	c.360G>T	c.(358-360)ggG>ggT	p.G120G	MYO3B_ENST00000408978.4_Silent_p.G111G|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Silent_p.G111G			Q8WXR4	MYO3B_HUMAN	myosin IIIB	111	Protein kinase.				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						TGTGTAATGGGGGCTCAGTCA	0.468000													15	48					0.00400662	0.00427073	1	1	0
PHF2	5253	broad.mit.edu	37	9	96439152	96439152	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr9:96439152G>T	ENST00000359246.4	+	21	3476	c.3109G>T	c.(3109-3111)Gct>Tct	p.A1037S	PHF2_ENST00000375376.4_Missense_Mutation_p.A268S	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	1037					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 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			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CGGGGCCCAGGCTGGCCGCAC	0.667000													4	8					0.014758	0.0152407	1	1	0
SMARCA1	6594	broad.mit.edu	37	X	128633732	128633732	+	Silent	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:128633732C>A	ENST00000371122.4	-	10	1383	c.1254G>T	c.(1252-1254)ggG>ggT	p.G418G	SMARCA1_ENST00000371121.3_Silent_p.G418G|SMARCA1_ENST00000371123.1_Silent_p.G418G	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	418					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TCTTACTCAGCCCCAAGTAAA	0.323000													16	41					3.41278e-10	4.88699e-10	1	1	0
NETO1	81832	broad.mit.edu	37	18	70417525	70417525	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr18:70417525G>T	ENST00000327305.6	-	9	1970	c.1313C>A	c.(1312-1314)tCc>tAc	p.S438Y	NETO1_ENST00000299430.2_Missense_Mutation_p.S437Y|NETO1_ENST00000583169.1_Missense_Mutation_p.S438Y	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	438					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TTTAGTGCTGGACAGCTGTGA	0.488000													14	25					1.05317e-09	1.47e-09	1	1	0
MYT1	4661	broad.mit.edu	37	20	62839584	62839584	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr20:62839584G>T	ENST00000536311.1	+	7	1399	c.1035G>T	c.(1033-1035)gaG>gaT	p.E345D	MYT1_ENST00000328439.1_Missense_Mutation_p.E345D|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	345					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTATTGTGGAGGTCCGCTCGG	0.582000													43	134					2.35958e-20	4.40677e-20	1	1	0
SPTBN5	51332	broad.mit.edu	37	15	42148685	42148685	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr15:42148685C>A	ENST00000320955.6	-	53	9147	c.8920G>T	c.(8920-8922)Gtg>Ttg	p.V2974L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2974					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AGCTGCTGCACCCGGGCGGCC	0.687000													4	13					0.00909568	0.00954183	1	1	0
GLTSCR1	29998	broad.mit.edu	37	19	48183814	48183814	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:48183814C>T	ENST00000396720.3	+	6	1581	c.1387C>T	c.(1387-1389)Cag>Tag	p.Q463*	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	463							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CATCCCCGCCCAGCACATGCT	0.721000													3	13					0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66431236	66431236	+	Silent	SNP	A	A	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr3:66431236A>G	ENST00000383703.3	-	19	3354	c.2751T>C	c.(2749-2751)tgT>tgC	p.C917C	LRIG1_ENST00000273261.3_Silent_p.C940C|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	940						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CCCTGGAGTAACAGTCCACTT	0.607000													24	54					0	0	1	0	0
BTG1	694	broad.mit.edu	37	12	92538200	92538200	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr12:92538200G>C	ENST00000256015.3	-	2	533	c.172C>G	c.(172-174)Cca>Gca	p.P58A		NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	58					cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				GGCTTTTCTGGGAACCAGTGA	0.473000			T	MYC	BCLL						OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	57					0	0	1	0	0
ZC3H18	124245	broad.mit.edu	37	16	88689695	88689695	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr16:88689695A>G	ENST00000301011.5	+	10	1936	c.1736A>G	c.(1735-1737)tAc>tGc	p.Y579C	ZC3H18_ENST00000452588.2_Missense_Mutation_p.Y603C	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	579	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TCTTCATCCTACAGCTCCTAC	0.657000													12	51					0	0	1	0	0
TBC1D21	161514	broad.mit.edu	37	15	74177204	74177204	+	Silent	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr15:74177204C>A	ENST00000300504.2	+	5	533	c.450C>A	c.(448-450)ctC>ctA	p.L150L	TBC1D21_ENST00000562056.1_Intron|TBC1D21_ENST00000535547.2_Silent_p.L114L	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	150	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						AGATCCTGCTCCTGAGTTACG	0.557000													5	42					0.184627	0.187168	1	1	0
SLC25A12	8604	broad.mit.edu	37	2	172666765	172666765	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:172666765C>A	ENST00000422440.2	-	12	1230	c.1193G>T	c.(1192-1194)gGg>gTg	p.G398V	SLC25A12_ENST00000392592.4_Missense_Mutation_p.G291V	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	398					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TGGAGCAACCCCTATAAGTTG	0.378000													16	57					3.41278e-10	4.88699e-10	1	1	0
ST6GAL2	84620	broad.mit.edu	37	2	107460279	107460279	+	Missense_Mutation	SNP	A	A	T	rs145721349		TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:107460279A>T	ENST00000409382.3	-	2	765	c.155T>A	c.(154-156)cTg>cAg	p.L52Q	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.L52Q|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.L52Q	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	52					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTGCACCGGCAGGAGCCTCCT	0.677000													22	36					0	0	1	0	0
KRTAP13-3	337960	broad.mit.edu	37	21	31798084	31798084	+	Silent	SNP	A	A	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr21:31798084A>T	ENST00000390690.2	-	1	202	c.147T>A	c.(145-147)ggT>ggA	p.G49G		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	49	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						AGAGAGAGGAACCCAGCTGGC	0.597000													47	40					0	0	1	0	0
MCPH1	79648	broad.mit.edu	37	8	6302377	6302377	+	Silent	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr8:6302377G>A	ENST00000344683.5	+	8	1210	c.1134G>A	c.(1132-1134)agG>agA	p.R378R	MCPH1_ENST00000522905.1_Silent_p.R330R|MCPH1_ENST00000519480.1_Silent_p.R378R	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	378						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GGAGCACCAGGAGATCTATCA	0.532000													16	37					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28361852	28361852	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr15:28361852G>A	ENST00000261609.7	-	88	13676	c.13568C>T	c.(13567-13569)gCc>gTc	p.A4523V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4523	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGCTCTGGCGGCCGGGCTGAG	0.627000													20	113					0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69362431	69362431	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:69362431G>T	ENST00000305363.4	+	10	1245	c.1181G>T	c.(1180-1182)tGg>tTg	p.W394L		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	394	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						ATAGTGAGCTGGGGAGATGAA	0.438000													29	154					5.77227e-19	1.04563e-18	1	1	0
EXOG	9941	broad.mit.edu	37	3	38565410	38565410	+	Missense_Mutation	SNP	G	G	T	rs141793543		TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr3:38565410G>T	ENST00000287675.5	+	6	760	c.664G>T	c.(664-666)Gtg>Ttg	p.V222L	EXOG_ENST00000358249.2_Missense_Mutation_p.V82L|EXOG_ENST00000422077.2_Missense_Mutation_p.V172L	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	222						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						CGAGGACAACGTGGCAGTCCC	0.453000													12	22					7.93312e-07	9.9052e-07	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51701234	51701234	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr6:51701234C>A	ENST00000371117.3	-	51	8416	c.8141G>T	c.(8140-8142)cGg>cTg	p.R2714L	PKHD1_ENST00000340994.4_Missense_Mutation_p.R2714L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2714					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTCCTTCACCCGGAGAATGAC	0.408000													14	39					2.23348e-06	2.73715e-06	1	1	0
PTPRH	5794	broad.mit.edu	37	19	55697896	55697896	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:55697896C>A	ENST00000376350.3	-	15	2601	c.2579G>T	c.(2578-2580)cGg>cTg	p.R860L	PTPRH_ENST00000263434.5_Missense_Mutation_p.R682L	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	860	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.Y856fs*8(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CAGGGGCACCCGGGACCAGTC	0.582000													19	54					1.01871e-10	1.48115e-10	1	1	0
KEL	3792	broad.mit.edu	37	7	142658920	142658920	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr7:142658920T>A	ENST00000355265.2	-	2	517	c.43A>T	c.(43-45)Agc>Tgc	p.S15C	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	15					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCTGCCTGGCTGCGTTCCCTC	0.542000													81	149					0	0	1	0	0
GBAS	2631	broad.mit.edu	37	7	56051430	56051430	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr7:56051430G>T	ENST00000322090.3	+	6	483	c.454G>T	c.(454-456)Gaa>Taa	p.E152*	GBAS_ENST00000446778.1_Nonsense_Mutation_p.E113*	NM_001483.2	NP_001474.1	O75323	NIPS2_HUMAN	glioblastoma amplified sequence	152						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGAATTTTTGGAATTTCGTAA	0.388000													21	67					2.89027e-11	4.30617e-11	1	1	0
NDUFAF6	137682	broad.mit.edu	37	8	96064406	96064406	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr8:96064406G>T	ENST00000396113.1	+	14	1595	c.545G>T	c.(544-546)aGg>aTg	p.R182M	NDUFAF6_ENST00000396111.2_Missense_Mutation_p.R182M|NDUFAF6_ENST00000396124.4_Missense_Mutation_p.R274M|NDUFAF6_ENST00000542894.1_Missense_Mutation_p.R222M|NDUFAF6_ENST00000286687.4_Missense_Mutation_p.R122M			Q330K2	CH038_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6	274					biosynthetic process	mitochondrion	transferase activity										TTTTAGGCTAGGTCCTTTCAC	0.403000													32	25					1.61788e-16	2.79337e-16	1	1	0
LRFN5	145581	broad.mit.edu	37	14	42356713	42356713	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr14:42356713G>T	ENST00000554171.1	+	5	3317	c.885G>T	c.(883-885)gaG>gaT	p.E295D	LRFN5_ENST00000554120.1_Missense_Mutation_p.E295D|LRFN5_ENST00000298119.4_Missense_Mutation_p.E295D			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	295	Ig-like.					integral to membrane		p.E295E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ATACACATGAGATGAGAGTCC	0.488000										HNSCC(30;0.082)			24	55					5.35356e-11	7.88758e-11	1	1	0
ARHGAP20	57569	broad.mit.edu	37	11	110462719	110462719	+	Silent	SNP	A	A	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:110462719A>G	ENST00000260283.4	-	11	1409	c.1125T>C	c.(1123-1125)aaT>aaC	p.N375N	ARHGAP20_ENST00000533353.1_Silent_p.N349N|ARHGAP20_ENST00000524756.1_Silent_p.N352N|ARHGAP20_ENST00000357139.3_Silent_p.N349N|ARHGAP20_ENST00000527598.1_Silent_p.N339N|ARHGAP20_ENST00000528829.1_Silent_p.N339N	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	375	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GTTTGGGCAGATTGTCATTCT	0.468000													13	142					0	0	1	0	0
PHACTR4	65979	broad.mit.edu	37	1	28785595	28785595	+	Splice_Site	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:28785595G>A	ENST00000373839.3	+	3	277		c.e3-1		PHACTR4_ENST00000493669.1_Splice_Site|PHACTR4_ENST00000373836.3_Splice_Site	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4								actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCATGTAACAGAGGAAGCAGA	0.473000													24	23					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111155726	111155726	+	Silent	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:111155726G>A	ENST00000262839.2	-	3	1611	c.693C>T	c.(691-693)agC>agT	p.S231S		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	231					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCTCCACCTTGCTGAGCTCCT	0.552000													32	176					0	0	1	0	0
GPSM2	29899	broad.mit.edu	37	1	109439704	109439704	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:109439704C>A	ENST00000406462.1	+	4	1048	c.275C>A	c.(274-276)gCa>gAa	p.A92E	GPSM2_ENST00000264126.3_Missense_Mutation_p.A92E|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	92					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TTAACCCTTGCAAGGTAATTA	0.274000													19	40					1.15919e-05	1.37485e-05	1	1	0
ZFHX3	463	broad.mit.edu	37	16	72991883	72991883	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr16:72991883C>A	ENST00000268489.5	-	2	2834	c.2162G>T	c.(2161-2163)tGt>tTt	p.C721F	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	721					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)				CTTGTAACCACACGTGTAGCT	0.567000													32	148					2.48696e-23	4.83534e-23	1	1	0
KCNU1	157855	broad.mit.edu	37	8	36780043	36780043	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr8:36780043G>C	ENST00000399881.3	+	24	2669	c.2632G>C	c.(2632-2634)Ggt>Cgt	p.G878R		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	878						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGAACAGCTTGGTGGACTGGA	0.458000													11	34					0	0	1	0	0
ZC3H15	55854	broad.mit.edu	37	2	187370495	187370495	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:187370495G>A	ENST00000337859.6	+	8	1120	c.893G>A	c.(892-894)cGt>cAt	p.R298H	ZC3H15_ENST00000544130.1_Missense_Mutation_p.R93H	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	298						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			TTTGAATTTCGTCCTGAACTG	0.423000													9	24					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935750	30935750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:30935750C>A	ENST00000355537.3	+	2	1428	c.1281C>A	c.(1279-1281)taC>taA	p.Y427*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	427					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)					CCAACCTGTACTCCAGGTACC	0.642000													24	54					2.89027e-11	4.30617e-11	1	1	0
PCDH18	54510	broad.mit.edu	37	4	138451640	138451640	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:138451640G>T	ENST00000344876.4	-	1	1989	c.1603C>A	c.(1603-1605)Cat>Aat	p.H535N	PCDH18_ENST00000412923.2_Missense_Mutation_p.H535N|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.H315N	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	535	Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACTTCTTCATGATCAAAGATT	0.418000													43	68					3.54561e-26	6.99624e-26	1	1	0
PTCHD3	374308	broad.mit.edu	37	10	27702363	27702363	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr10:27702363G>T	ENST00000438700.3	-	1	934	c.817C>A	c.(817-819)Cag>Aag	p.Q273K		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	273					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TTGTTCACCTGCCAGGCGTAC	0.622000													26	41					9.57634e-11	1.39848e-10	1	1	0
CNTNAP2	26047	broad.mit.edu	37	7	146818198	146818198	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr7:146818198G>T	ENST00000361727.3	+	6	1398	c.882G>T	c.(880-882)agG>agT	p.R294S		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	294	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTCTGGACAGGAGCATGCAGC	0.488000										HNSCC(39;0.1)			7	52					2.0095e-06	2.46722e-06	1	1	0
GPR161	23432	broad.mit.edu	37	1	168059860	168059860	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:168059860C>A	ENST00000367838.1	-	6	1459	c.1146G>T	c.(1144-1146)caG>caT	p.Q382H	GPR161_ENST00000271357.5_Missense_Mutation_p.Q382H|GPR161_ENST00000367836.1_Missense_Mutation_p.Q250H|GPR161_ENST00000537209.1_Missense_Mutation_p.Q402H|GPR161_ENST00000367835.1_Missense_Mutation_p.Q382H|GPR161_ENST00000539777.1_Missense_Mutation_p.Q304H|GPR161_ENST00000546300.1_Missense_Mutation_p.Q268H|GPR161_ENST00000361697.2_Missense_Mutation_p.Q382H	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	382					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					GCCCCAGGGGCTGTCCACCTG	0.587000													34	17					1.03484e-13	1.68989e-13	1	1	0
TRIM51	84767	broad.mit.edu	37	11	55655571	55655571	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:55655571C>A	ENST00000449290.2	+	4	663	c.571C>A	c.(571-573)Cat>Aat	p.H191N	TRIM51_ENST00000244891.3_Missense_Mutation_p.H48N	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	191						intracellular	zinc ion binding										TGCATTTCTCCATGAAGAAGA	0.413000													13	28					4.14922e-12	6.38267e-12	1	1	0
LOC645166	645166	broad.mit.edu	37	1	148932835	148932835	+	RNA	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:148932835C>T	ENST00000539543.1	+	0	91					NR_027355.1																						ATAGAGCTGCCCAGCATGGCT	0.602000													61	241					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9011480	9011480	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:9011480C>A	ENST00000397910.4	-	36	38956	c.38753G>T	c.(38752-38754)gGg>gTg	p.G12918V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12920	SEA 6.				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						AGTGGCTGCCCCATTCTTCTC	0.542000													41	78					5.48756e-27	1.08605e-26	1	1	0
OR6M1	390261	broad.mit.edu	37	11	123676815	123676815	+	Silent	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:123676815G>T	ENST00000309154.2	-	1	280	c.243C>A	c.(241-243)gcC>gcA	p.A81A		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CTAGGAGGCAGGCCAACAACT	0.438000													31	61					2.36697e-06	2.89006e-06	1	1	0
BARD1	580	broad.mit.edu	37	2	215632326	215632326	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:215632326T>C	ENST00000260947.4	-	6	1582	c.1448A>G	c.(1447-1449)cAt>cGt	p.H483R	BARD1_ENST00000449967.2_Missense_Mutation_p.H339R	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	483					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAATGCCTTATGCTGGAGCAA	0.408000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				15	42					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885833	88885833	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr8:88885833G>T	ENST00000319675.3	-	1	463	c.367C>A	c.(367-369)Cct>Act	p.P123T		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	123										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTCCGATTAGGGACGTAGAGG	0.552000													18	216					3.32936e-07	4.22058e-07	1	1	0
NFATC4	4776	broad.mit.edu	37	14	24839701	24839701	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr14:24839701G>T	ENST00000413692.2	+	3	1430	c.1286G>T	c.(1285-1287)gGa>gTa	p.G429V	NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000555590.1_Missense_Mutation_p.G379V|NFATC4_ENST00000422617.3_Missense_Mutation_p.G354V|NFATC4_ENST00000555453.1_Missense_Mutation_p.G354V|NFATC4_ENST00000557451.1_Missense_Mutation_p.G296V|NFATC4_ENST00000250373.4_Missense_Mutation_p.G366V|NFATC4_ENST00000539237.2_Missense_Mutation_p.G398V|NFATC4_ENST00000556279.1_Missense_Mutation_p.G398V|NFATC4_ENST00000556169.1_Missense_Mutation_p.G354V|NFATC4_ENST00000554661.1_Missense_Mutation_p.G296V|NFATC4_ENST00000554050.1_Missense_Mutation_p.G366V|NFATC4_ENST00000424781.2_Missense_Mutation_p.G379V|NFATC4_ENST00000553879.1_Missense_Mutation_p.G296V|NFATC4_ENST00000554591.1_Missense_Mutation_p.G429V|NFATC4_ENST00000553708.1_Missense_Mutation_p.G366V|NFATC4_ENST00000553469.1_Missense_Mutation_p.G398V|NFATC4_ENST00000554966.1_Missense_Mutation_p.G379V|NFATC4_ENST00000554344.1_Missense_Mutation_p.G296V	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	366	RHD.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GCTCCTCCAGGAGGTTCCCGG	0.637000													18	31					3.52763e-06	4.26015e-06	1	1	0
RTTN	25914	broad.mit.edu	37	18	67718690	67718690	+	Silent	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr18:67718690C>A	ENST00000255674.6	-	39	5566	c.5280G>T	c.(5278-5280)ccG>ccT	p.P1760P	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1760							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CGGTAACAAACGGGAGTGTGA	0.428000													9	68					1.76689e-08	2.32431e-08	1	1	0
TLL1	7092	broad.mit.edu	37	4	166929148	166929148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:166929148G>T	ENST00000061240.2	+	7	1512	c.865G>T	c.(865-867)Gaa>Taa	p.E289*	TLL1_ENST00000507499.1_Nonsense_Mutation_p.E289*|TLL1_ENST00000513213.1_Nonsense_Mutation_p.E289*	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	289	Metalloprotease (By similarity).				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)		CTCACTTGGAGAAAGATATGA	0.398000													7	33					0.0293803	0.0301069	1	1	0
ATP12A	479	broad.mit.edu	37	13	25266578	25266578	+	Silent	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr13:25266578G>A	ENST00000218548.6	+	9	1431	c.1098G>A	c.(1096-1098)tcG>tcA	p.S366S	ATP12A_ENST00000381946.3_Silent_p.S360S	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	360					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TGACCCTGTCGCTGACAGCAA	0.517000													14	54					0	0	1	0	0
POU4F2	5458	broad.mit.edu	37	4	147561258	147561258	+	Silent	SNP	T	T	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:147561258T>C	ENST00000281321.3	+	2	776	c.528T>C	c.(526-528)caT>caC	p.H176H		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	176	Poly-His.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					accaccaccatcaccaccacc	0.682000													4	28					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173232885	173232885	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:173232885C>A	ENST00000506823.1	+	4	1025	c.368C>A	c.(367-369)cCa>cAa	p.P123Q	GALNTL6_ENST00000508122.1_Missense_Mutation_p.P106Q|GALNTL6_ENST00000457021.1_3'UTR	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	123						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AGGTCTCTGCCAGATATTCGT	0.383000													26	72					1.06801e-11	1.62406e-11	1	1	0
ATOH1	474	broad.mit.edu	37	4	94750936	94750936	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:94750936G>T	ENST00000306011.3	+	1	895	c.859G>T	c.(859-861)Gtg>Ttg	p.V287L		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	287					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		AGGGTACTCGGTGCAGCTGGA	0.642000													21	62					4.54149e-19	8.29478e-19	1	1	0
OR2W1	26692	broad.mit.edu	37	6	29012378	29012378	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr6:29012378G>A	ENST00000377175.1	-	1	639	c.575C>T	c.(574-576)aCc>aTc	p.T192I		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AACTGTTGTGGTGTCTACACA	0.408000													18	56					0	0	1	0	0
PDCD1	5133	broad.mit.edu	37	2	242794898	242794898	+	Missense_Mutation	SNP	C	C	A	rs138016578		TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:242794898C>A	ENST00000334409.5	-	2	380	c.311G>T	c.(310-312)cGt>cTt	p.R104L		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	104	Ig-like V-type.				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GTGGAAGTCACGCCCGTTGGG	0.672000													16	51					5.01169e-05	5.80901e-05	1	1	0
PHYHIPL	84457	broad.mit.edu	37	10	61005252	61005252	+	Silent	SNP	C	C	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr10:61005252C>G	ENST00000373880.4	+	5	1296	c.1032C>G	c.(1030-1032)acC>acG	p.T344T	PHYHIPL_ENST00000373878.3_Silent_p.T318T	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	344										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						CTGTGGGCACCGTGGCAGAAA	0.453000													19	42					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6644047	6644047	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:6644047C>A	ENST00000299441.3	-	21	9271	c.8860G>T	c.(8860-8862)Gca>Tca	p.A2954S		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2954					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCAGGGCTGCCAGTGCAAGC	0.632000													3	9					0.004672	0.00494814	1	1	0
PSMA7	5688	broad.mit.edu	37	20	60715919	60715919	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr20:60715919G>A	ENST00000370873.4	-	2	304	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	PSMA7_ENST00000370858.3_Missense_Mutation_p.R60W|PSMA7_ENST00000484488.1_5'UTR|PSMA7_ENST00000370861.1_5'UTR	NM_002792.3	NP_002783.1	O14818	PSA7_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 7	60					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CAGATCTTCCGCACTGTTCTT	0.478000													7	168					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247582251	247582251	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:247582251T>C	ENST00000366497.2	+	2	935	c.155T>C	c.(154-156)gTg>gCg	p.V52A	NLRP3_ENST00000336119.3_Missense_Mutation_p.V52A|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.V52A|NLRP3_ENST00000391828.3_Missense_Mutation_p.V52A|NLRP3_ENST00000366496.2_Missense_Mutation_p.V52A|NLRP3_ENST00000391827.2_Missense_Mutation_p.V52A	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	52	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCAGACCATGTGGATCTAGCC	0.537000													39	15					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198950568	198950568	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:198950568C>A	ENST00000428675.1	+	2	2725	c.2327C>A	c.(2326-2328)cCt>cAt	p.P776H	PLCL1_ENST00000437704.2_Missense_Mutation_p.P678H	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	776	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AGTGATAATCCTATTTTTGAT	0.393000													26	77					6.32553e-13	9.93798e-13	1	1	0
CDH12	1010	broad.mit.edu	37	5	22078761	22078761	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr5:22078761G>T	ENST00000382254.1	-	5	1111	c.25C>A	c.(25-27)Ctg>Atg	p.L9M	CDH12_ENST00000504376.2_Missense_Mutation_p.L9M|CDH12_ENST00000522262.1_Missense_Mutation_p.L9M	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	9					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L9M(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CAGAGAAGCAGGGATAAACAG	0.438000										HNSCC(59;0.17)			16	171					2.32078e-09	3.16601e-09	1	1	0
MEGF10	84466	broad.mit.edu	37	5	126783269	126783269	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr5:126783269G>A	ENST00000274473.6	+	22	3016	c.2749G>A	c.(2749-2751)Ggt>Agt	p.G917S	MEGF10_ENST00000510828.1_3'UTR|MEGF10_ENST00000503335.2_Missense_Mutation_p.G917S	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	917					cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TCACAGCAATGGTGGAAACGC	0.478000													40	70					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74273672	74273672	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:74273672G>T	ENST00000409262.3	+	1	223	c.223G>T	c.(223-225)Gtg>Ttg	p.V75L		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	75							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGCCGAAGCTGTGTCCTCTTA	0.622000													11	52					4.68919e-08	6.11995e-08	1	1	0
ZNF862	643641	broad.mit.edu	37	7	149558172	149558172	+	Silent	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr7:149558172G>A	ENST00000223210.4	+	7	2168	c.1923G>A	c.(1921-1923)ggG>ggA	p.G641G		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	641					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CCTGCGTGGGGATTTACATCC	0.587000													11	20					0	0	1	0	0
FAM66D	100132923	broad.mit.edu	37	8	11986021	11986021	+	RNA	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr8:11986021G>T	ENST00000434078.2	+	0	608					NR_027425.1																						CTTGGCGGCAGGCGCCTTCTG	0.493000													8	57					1.26484e-09	1.74707e-09	1	1	0
GRM8	2918	broad.mit.edu	37	7	126173879	126173879	+	Silent	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr7:126173879C>A	ENST00000339582.2	-	9	2365	c.1557G>T	c.(1555-1557)ccG>ccT	p.P519P	GRM8_ENST00000358373.3_Silent_p.P519P|GRM8_ENST00000444921.2_Silent_p.P519P|GRM8_ENST00000480995.1_Intron			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	519					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)	CTGGCTTACACGGCAGGCTGC	0.517000										HNSCC(24;0.065)			15	107					5.01169e-05	5.80901e-05	1	1	0
TRPS1	7227	broad.mit.edu	37	8	116599487	116599487	+	Missense_Mutation	SNP	C	C	A	rs146506752	by1000genomes	TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr8:116599487C>A	ENST00000395715.3	-	5	3018	c.2441G>T	c.(2440-2442)cGg>cTg	p.R814L	TRPS1_ENST00000519076.1_Missense_Mutation_p.R555L|TRPS1_ENST00000220888.5_Missense_Mutation_p.R801L|TRPS1_ENST00000520276.1_Missense_Mutation_p.R805L|TRPS1_ENST00000519674.1_Missense_Mutation_p.R801L	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	801	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CGGACTCCCCCGCAGGATGTC	0.557000									Langer-Giedion syndrome				50	479					6.31075e-24	1.23423e-23	1	1	0
LNX1	84708	broad.mit.edu	37	4	54347888	54347888	+	Splice_Site	SNP	T	T	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:54347888T>A	ENST00000306888.2	-	6	1447	c.1197_splice	c.e6+1	p.K399_splice	LNX1_ENST00000263925.7_Splice_Site_p.K495_splice|FIP1L1_ENST00000507166.1_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	495	PDZ 2.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGGCCTCACCTTGGGAGTGTT	0.572000													7	38					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92459768	92459768	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:92459768G>T	ENST00000370389.2	+	15	2949	c.2025G>T	c.(2023-2025)caG>caT	p.Q675H	BRDT_ENST00000399546.2_Missense_Mutation_p.Q748H|BRDT_ENST00000402388.1_Missense_Mutation_p.Q748H|BRDT_ENST00000362005.3_Missense_Mutation_p.Q748H|BRDT_ENST00000394530.3_Missense_Mutation_p.Q702H	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	748					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AACATTTACAGACTGTGAAAA	0.348000													19	21					1.56452e-12	2.43493e-12	1	1	0
TFR2	7036	broad.mit.edu	37	7	100230662	100230662	+	Translation_Start_Site	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr7:100230662G>T	ENST00000544242.1	-	0	65				TFR2_ENST00000223051.3_Missense_Mutation_p.L271M|TFR2_ENST00000431692.1_Missense_Mutation_p.L271M|TFR2_ENST00000462107.1_Missense_Mutation_p.L271M			Q9UP52	TFR2_HUMAN	transferrin receptor 2						cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CGCACCAGCAGCAGGCGGCCC	0.692000													36	199					2.52637e-11	3.80678e-11	1	1	0
CDH8	1006	broad.mit.edu	37	16	62055393	62055393	+	Translation_Start_Site	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr16:62055393G>T	ENST00000577390.1	-	0	869				CDH8_ENST00000584337.1_De_novo_Start_OutOfFrame|CDH8_ENST00000299345.6_De_novo_Start_OutOfFrame|CDH8_ENST00000577730.1_De_novo_Start_OutOfFrame	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCATCATGCAGTGCCGAGCAT	0.443000													7	17					8.12818e-05	9.33966e-05	1	1	0
VAMP7	6845	broad.mit.edu	37	X	155119158	155119158	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:155119158G>T	ENST00000286448.6	+	2	194	c.29G>T	c.(28-30)aGg>aTg	p.R10M	VAMP7_ENST00000262640.6_Missense_Mutation_p.R10M|VAMP7_ENST00000460621.1_Missense_Mutation_p.R10M|VAMP7_ENST00000479687.1_3'UTR	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	10	Longin.				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	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)					GTTGTTGCCAGGGGGACCACT	0.403000													14	64					2.31682e-05	2.7235e-05	1	1	0
INPP5D	3635	broad.mit.edu	37	2	233925318	233925318	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:233925318G>A	ENST00000359570.5	+	1	130	c.130G>A	c.(130-132)Gtg>Atg	p.V44M	INPP5D_ENST00000538935.1_Missense_Mutation_p.V44M			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	44	SH2.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CGCGCTCTGCGTGCTGTGAGT	0.617000													8	66					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103363698	103363698	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:103363698C>T	ENST00000358392.2	-	57	4638	c.4321G>A	c.(4321-4323)Gga>Aga	p.G1441R	COL11A1_ENST00000370096.3_Missense_Mutation_p.G1429R|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1390R|COL11A1_ENST00000512756.1_Missense_Mutation_p.G1313R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1429	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)		CCAGGTGGTCCATCTTGGCCT	0.289000													11	6					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175372559	175372559	+	Silent	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:175372559G>A	ENST00000367674.1	-	4	1401	c.693C>T	c.(691-693)tcC>tcT	p.S231S	TNR_ENST00000263525.2_Silent_p.S231S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	231	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				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)					ACCGGAGTTCGGAACAGTCAT	0.637000													29	193					0	0	1	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88247589	88247589	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr9:88247589T>A	ENST00000357081.3	-	14	2147	c.2003A>T	c.(2002-2004)tAt>tTt	p.Y668F	AGTPBP1_ENST00000432218.1_Missense_Mutation_p.Y506F|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.Y628F|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.Y680F			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	668					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TTGTACACCATAAGGCCTTTC	0.378000													7	28					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764076	77764076	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr8:77764076C>A	ENST00000521891.2	+	10	5367	c.4919C>A	c.(4918-4920)gCa>gAa	p.A1640E	ZFHX4_ENST00000518282.1_Missense_Mutation_p.A1614E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A1595E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A1595E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1595						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)			AGCATTGCAGCAAATGTCAAC	0.478000										HNSCC(33;0.089)			17	129					1.02788e-11	1.57025e-11	1	1	0
KIAA1551	55196	broad.mit.edu	37	12	32134792	32134792	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr12:32134792G>T	ENST00000312561.4	+	4	1317	c.903G>T	c.(901-903)ttG>ttT	p.L301F	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		CTAAACACTTGTCTATGGAAG	0.428000													13	81					0.00136819	0.00147738	1	1	0
TRIM51	84767	broad.mit.edu	37	11	55658890	55658890	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:55658890G>A	ENST00000449290.2	+	7	1233	c.1141G>A	c.(1141-1143)Gga>Aga	p.G381R	TRIM51_ENST00000244891.3_Missense_Mutation_p.G238R	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	381	B30.2/SPRY.					intracellular	zinc ion binding										CTTTCTTCTTGGATGTGTTAA	0.458000													16	38					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107976882	107976882	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:107976882C>A	ENST00000372129.2	-	1	2769	c.2693G>T	c.(2692-2694)gGa>gTa	p.G898V		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	898						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GATTTTATATCCTTTTGTAAT	0.433000													49	128					2.64894e-19	4.85151e-19	1	1	0
COL2A1	1280	broad.mit.edu	37	12	48378354	48378354	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr12:48378354C>A	ENST00000380518.3	-	28	2026	c.1862G>T	c.(1861-1863)gGa>gTa	p.G621V	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G552V	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	621	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ACCAGGCAGTCCCTTCTCACC	0.642000													8	37					1.06961e-07	1.38237e-07	1	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79059232	79059232	+	Silent	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr15:79059232G>A	ENST00000388820.4	-	19	3231	c.3021C>T	c.(3019-3021)ggC>ggT	p.G1007G	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1007					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGGAGCCGCTGCCTGAGCCTT	0.672000													6	27					0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94722927	94722927	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr14:94722927G>T	ENST00000304338.3	+	17	2150	c.1996G>T	c.(1996-1998)Gct>Tct	p.A666S		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	666						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AGATGTTCTGGCTATTGTAAA	0.368000													4	11					1	1	1	1	0
GPR101	83550	broad.mit.edu	37	X	136113330	136113330	+	Silent	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:136113330G>A	ENST00000298110.1	-	1	503	c.504C>T	c.(502-504)taC>taT	p.Y168Y		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	168						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GGCCCCAGCCGTAGAGTGGAG	0.607000													15	50					0	0	1	0	0
THSD1	55901	broad.mit.edu	37	13	52971986	52971986	+	Silent	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr13:52971986C>T	ENST00000349258.4	-	3	946	c.402G>A	c.(400-402)ttG>ttA	p.L134L	THSD1_ENST00000258613.4_Silent_p.L134L|THSD1_ENST00000544466.1_Intron	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	134						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CACTCCTATTCAAGTCAACGT	0.517000													39	75					0	0	1	0	0
C8orf44	56260	broad.mit.edu	37	8	67590164	67590164	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr8:67590164T>C	ENST00000519561.1	+	2	372	c.221T>C	c.(220-222)tTt>tCt	p.F74S	C8orf44-SGK3_ENST00000520044.1_Intron|C8orf44_ENST00000521889.1_Missense_Mutation_p.F74S|C8orf44-SGK3_ENST00000519289.1_Intron|C8orf44_ENST00000390159.3_Missense_Mutation_p.F74S	NM_019607.2	NP_062553.1	Q96CB5	CH044_HUMAN	chromosome 8 open reading frame 44	74										endometrium(1)|kidney(1)|lung(2)	4	Breast(64;0.186)		Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149)			aaccccatctttactaaaaat	0.527000													3	32					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16911709	16911709	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr10:16911709C>A	ENST00000377833.4	-	59	9445	c.9380G>T	c.(9379-9381)aGt>aTt	p.S3127I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3127	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGGAGCATACTATTATTGCT	0.458000													43	98					1.48734e-19	2.73918e-19	1	1	0
XXYLT1	152002	broad.mit.edu	37	3	194947518	194947518	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr3:194947518T>A	ENST00000310380.6	-	2	680	c.572A>T	c.(571-573)cAc>cTc	p.H191L	XXYLT1_ENST00000429994.1_Missense_Mutation_p.H45L	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN	xyloside xylosyltransferase 1	191						integral to membrane	transferase activity, transferring glycosyl groups										AGCACTGAAGTGCTTCTGCAT	0.537000													16	26					0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160664693	160664693	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr6:160664693G>T	ENST00000366953.3	-	7	1448	c.1190C>A	c.(1189-1191)aCc>aAc	p.T397N	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	397					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GCGGTCGATGGTGAGGATGAT	0.522000													37	86					7.04047e-22	1.34133e-21	1	1	0
GMIP	51291	broad.mit.edu	37	19	19746349	19746349	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:19746349C>A	ENST00000203556.4	-	15	1572	c.1435G>T	c.(1435-1437)Ggc>Tgc	p.G479C	GMIP_ENST00000587238.1_Missense_Mutation_p.G453C|GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000445806.2_Missense_Mutation_p.G450C	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	479					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						AAGGGGCTGCCCAGCCCATTC	0.672000													24	57					3.10358e-05	3.6419e-05	1	1	0
ZMYM2	7750	broad.mit.edu	37	13	20579354	20579354	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr13:20579354G>T	ENST00000382869.3	+	5	1525	c.1274G>T	c.(1273-1275)tGt>tTt	p.C425F	ZMYM2_ENST00000382881.3_Missense_Mutation_p.C338F|ZMYM2_ENST00000382871.2_Missense_Mutation_p.C425F|ZMYM2_ENST00000382874.2_Missense_Mutation_p.C425F|ZMYM2_ENST00000382883.3_5'UTR	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AAATCAAGATGTACAATCTGT	0.289000													4	2					1.024e-07	1.32859e-07	1	1	0
MUC16	94025	broad.mit.edu	37	19	8971695	8971695	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:8971695C>A	ENST00000397910.4	-	78	43100	c.42897G>T	c.(42895-42897)ttG>ttT	p.L14299F	MUC16_ENST00000380951.5_Missense_Mutation_p.L940F	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14394	SEA 15.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGATGTCCACCAACTGGTAGG	0.522000													16	38					3.41278e-10	4.88699e-10	1	1	0
EFCAB3	146779	broad.mit.edu	37	17	60483881	60483881	+	Silent	SNP	T	T	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr17:60483881T>C	ENST00000450662.2	+	9	756	c.685T>C	c.(685-687)Ttg>Ctg	p.L229L	EFCAB3_ENST00000305286.3_Silent_p.L177L	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	177							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			CCCAGGAATGTTGTGGAGTCC	0.403000													26	12					0	0	1	0	0
DECR2	26063	broad.mit.edu	37	16	461459	461459	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr16:461459A>G	ENST00000219481.5	+	8	898	c.760A>G	c.(760-762)Agc>Ggc	p.S254G	DECR2_ENST00000461947.1_Intron|DECR2_ENST00000424398.2_Missense_Mutation_p.S242G	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	254						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				CTACCTGGCCAGCCCTCTGGC	0.657000													19	57					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1262956	1262956	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr10:1262956C>G	ENST00000381312.1	-	7	1942	c.1617G>C	c.(1615-1617)caG>caC	p.Q539H	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	539	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CGTCCCAGGTCTGCACTGCGC	0.657000													3	30					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103363697	103363697	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:103363697C>A	ENST00000358392.2	-	57	4639	c.4322G>T	c.(4321-4323)gGa>gTa	p.G1441V	COL11A1_ENST00000370096.3_Missense_Mutation_p.G1429V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1390V|COL11A1_ENST00000512756.1_Missense_Mutation_p.G1313V	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1429	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)		ACCAGGTGGTCCATCTTGGCC	0.289000													11	6					7.03913e-09	9.37137e-09	1	1	0
TJP1	7082	broad.mit.edu	37	15	30000947	30000947	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr15:30000947C>A	ENST00000346128.6	-	25	5140	c.4666G>T	c.(4666-4668)Gaa>Taa	p.E1556*	TJP1_ENST00000545208.2_Nonsense_Mutation_p.E1476*|TJP1_ENST00000356107.6_Nonsense_Mutation_p.E1556*|TJP1_ENST00000400011.2_Nonsense_Mutation_p.E1480*	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1556					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TGTGCAGTTTCACTTGGCAGA	0.418000													19	119					1.33834e-09	1.8371e-09	1	1	0
TRIM5	85363	broad.mit.edu	37	11	5687286	5687286	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:5687286G>T	ENST00000305836.5	-	6	1095	c.793C>A	c.(793-795)Cca>Aca	p.P265T	TRIM5_ENST00000396853.4_Missense_Mutation_p.P266T|TRIM5_ENST00000380034.3_Missense_Mutation_p.P265T|TRIM5_ENST00000396847.3_Missense_Mutation_p.P265T|TRIM5_ENST00000396855.3_Missense_Mutation_p.P265T|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000380027.1_Missense_Mutation_p.P265T			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	265					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		AAAGTTTCTGGCTTCTTCAAG	0.408000													13	33					5.50884e-06	6.59271e-06	1	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125547603	125547603	+	Silent	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:125547603C>A	ENST00000431078.1	+	18	3238	c.2874C>A	c.(2872-2874)ggC>ggA	p.G958G		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	958	EGF-like 2.			PGHCSS -> SIKKLK (in Ref. 4; BAB71205).	cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCTGCCCCGGCCACTGCAGCA	0.552000													29	57					5.77227e-19	1.04563e-18	1	1	0
FCGBP	8857	broad.mit.edu	37	19	40433204	40433204	+	Silent	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:40433204C>T	ENST00000221347.6	-	2	1072	c.1065G>A	c.(1063-1065)gaG>gaA	p.E355E		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	355	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGGCCACGCCCTCACAGCCTG	0.597000													11	51					0	0	1	0	0
MAGEB16	139604	broad.mit.edu	37	X	35821115	35821115	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:35821115A>T	ENST00000399989.1	+	2	1081	c.802A>T	c.(802-804)Agt>Tgt	p.S268C	MAGEB16_ENST00000399985.1_Missense_Mutation_p.S268C|MAGEB16_ENST00000399987.1_Missense_Mutation_p.S268C|MAGEB16_ENST00000399988.1_Missense_Mutation_p.S268C|MAGEB16_ENST00000399992.1_Missense_Mutation_p.S300C	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	268	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GGTGGCCAACAGTGATCCTGC	0.478000													13	21					0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48426594	48426594	+	Silent	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr10:48426594G>A	ENST00000224605.2	-	3	1678	c.1413C>T	c.(1411-1413)tcC>tcT	p.S471S		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	471					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						AGGTGTCCACGGACATGTTGG	0.577000											OREG0020165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	107					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919276	51919276	+	Silent	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:51919276G>T	ENST00000353836.5	-	5	1121	c.900C>A	c.(898-900)ccC>ccA	p.P300P	SIGLEC10_ENST00000432469.2_Silent_p.P217P|SIGLEC10_ENST00000436984.2_Silent_p.P252P|SIGLEC10_ENST00000356298.5_Silent_p.P300P|SIGLEC10_ENST00000439889.2_Silent_p.P242P|SIGLEC10_ENST00000525998.1_Intron|CTD-2616J11.2_ENST00000526996.1_RNA|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Silent_p.P242P|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000339313.5_Silent_p.P300P	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	300	Ig-like C2-type 2.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TAGGGCCCCAGGGATGGGACG	0.662000													12	35					3.07112e-06	3.7224e-06	1	1	0
RALYL	138046	broad.mit.edu	37	8	85441675	85441675	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr8:85441675C>A	ENST00000521268.1	+	2	1224	c.119C>A	c.(118-120)gCc>gAc	p.A40D	RALYL_ENST00000522455.1_Missense_Mutation_p.A40D|RALYL_ENST00000518566.1_Missense_Mutation_p.A40D|RALYL_ENST00000521695.1_Missense_Mutation_p.A40D|RALYL_ENST00000517638.1_Missense_Mutation_p.A53D	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	40	RRM.						identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GACATTGAAGCCATTTTTTCA	0.418000													6	40					0.00116845	0.00126789	1	1	0
SERPINE3	647174	broad.mit.edu	37	13	51918464	51918464	+	Silent	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr13:51918464G>T	ENST00000524365.1	+	5	958	c.333G>T	c.(331-333)ctG>ctT	p.L111L	SERPINE3_ENST00000521255.1_Silent_p.L111L|SERPINE3_ENST00000400389.4_Silent_p.L111L			A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	111					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						AGATGGAGCTGGCCTGCAGCC	0.542000													9	23					0.000673444	0.000738006	1	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125298976	125298976	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:125298976C>A	ENST00000538699.1	-	2	1012	c.932G>T	c.(931-933)tGc>tTc	p.C311F	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.C311F	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	311										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						GTAGGTCAGGCACACATTCTC	0.617000													28	184					1.12875e-08	1.49374e-08	1	1	0
DBF4B	80174	broad.mit.edu	37	17	42786721	42786721	+	Silent	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr17:42786721G>T	ENST00000315005.3	+	2	207	c.69G>T	c.(67-69)cgG>cgT	p.R23R	DBF4B_ENST00000398338.3_Silent_p.R23R|DBF4B_ENST00000393547.2_Silent_p.R23R|DBF4B_ENST00000526915.1_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	23					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				GTAGGCTCCGGGCCCCGGACC	0.537000													38	319					2.26627e-22	4.3426e-22	1	1	0
CORIN	10699	broad.mit.edu	37	4	47695086	47695086	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:47695086C>A	ENST00000273857.4	-	6	813	c.814G>T	c.(814-816)Ggt>Tgt	p.G272C	CORIN_ENST00000504584.1_Missense_Mutation_p.G272C|CORIN_ENST00000502252.1_Missense_Mutation_p.G205C|CORIN_ENST00000505909.1_Missense_Mutation_p.G272C|CORIN_ENST00000508498.1_Missense_Mutation_p.G133C	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	272	LDL-receptor class A 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AAGTTCTCACCCCTTCCACAG	0.403000													8	30					1.26484e-09	1.74707e-09	1	1	0
TRPV6	55503	broad.mit.edu	37	7	142572268	142572268	+	Silent	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr7:142572268G>T	ENST00000359396.3	-	11	1673	c.1428C>A	c.(1426-1428)ggC>ggA	p.G476G		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	476					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TGGTGAAGGGGCCTAGCATCT	0.587000													19	106					2.94398e-08	3.86507e-08	1	1	0
HNF4G	3174	broad.mit.edu	37	8	76471160	76471160	+	Silent	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr8:76471160G>T	ENST00000396423.2	+	8	1105	c.981G>T	c.(979-981)ctG>ctT	p.L327L	HNF4G_ENST00000354370.1_Silent_p.L290L	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	290					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AGTTGCTTCTGCTCCTGCCCA	0.433000													104	68					3.10586e-51	6.62117e-51	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181732609	181732609	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:181732609T>A	ENST00000526775.1	+	33	4865	c.4700T>A	c.(4699-4701)cTc>cAc	p.L1567H	CACNA1E_ENST00000357570.5_Missense_Mutation_p.L1537H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.L1193H|CACNA1E_ENST00000367573.2_Missense_Mutation_p.L1586H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.L1567H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.L1586H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L1518H	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1586					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						CTCATAAAGCTCCTGCGTCAG	0.473000													52	19					0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44047179	44047179	+	Silent	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:44047179G>T	ENST00000543989.1	-	7	2044	c.339C>A	c.(337-339)gcC>gcA	p.A113A	ABCG5_ENST00000405322.1_Silent_p.A337A|ABCG5_ENST00000260645.1_Silent_p.A508A			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	508	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			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)				TTAAGTGGGGGGCCAAGAGAG	0.468000													17	37					4.7546e-09	6.38118e-09	1	1	0
OR2B11	127623	broad.mit.edu	37	1	247614601	247614601	+	Silent	SNP	T	T	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:247614601T>A	ENST00000318749.6	-	1	707	c.684A>T	c.(682-684)gcA>gcT	p.A228A		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	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;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCCTGAGCACTGCCCGGGCAA	0.557000													73	50					0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133673780	133673780	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr8:133673780C>T	ENST00000519595.1	-	2	202	c.104G>A	c.(103-105)aGa>aAa	p.R35K	LRRC6_ENST00000518642.1_Missense_Mutation_p.R35K|LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000250173.1_Missense_Mutation_p.R35K			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	35						cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GTGTTCTAGTCTTTCTATTTC	0.368000													5	64					0	0	1	0	0
SCUBE3	222663	broad.mit.edu	37	6	35211475	35211475	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr6:35211475T>G	ENST00000274938.7	+	16	2014	c.2014T>G	c.(2014-2016)Tgc>Ggc	p.C672G	SCUBE3_ENST00000394681.1_Missense_Mutation_p.C688G	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	672					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CTGCGACCTTTGCCCTGGGAG	0.632000													31	50					0	0	1	0	0
ZNF513	130557	broad.mit.edu	37	2	27600504	27600504	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:27600504G>A	ENST00000323703.6	-	4	1732	c.1534C>T	c.(1534-1536)Cca>Tca	p.P512S	ZNF513_ENST00000407879.1_Missense_Mutation_p.P450S	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	512					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTATGAGGTGGGGCCCAGCCC	0.647000													6	136					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678958	100678958	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr7:100678958G>T	ENST00000306151.4	+	3	4325	c.4261G>T	c.(4261-4263)Gtt>Ttt	p.V1421F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1421	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)					AGCAACTCCTGTTGACACCAG	0.498000													141	220					9.86857e-64	2.1106e-63	1	1	0
TLN2	83660	broad.mit.edu	37	15	63031603	63031603	+	Silent	SNP	A	A	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr15:63031603A>T	ENST00000561311.1	+	30	3974	c.3744A>T	c.(3742-3744)gcA>gcT	p.A1248A	TLN2_ENST00000559908.1_3'UTR|TLN2_ENST00000306829.6_Silent_p.A1248A			Q9Y4G6	TLN2_HUMAN	talin 2	1248					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACCAGGCAGCAGCTGATCTGA	0.562000													24	46					0	0	1	0	0
AIF1	199	broad.mit.edu	37	6	31583825	31583825	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr6:31583825C>A	ENST00000376049.4	+	0	58				AIF1_ENST00000376059.3_Intron	NM_032955.1	NP_116573.1	P55008	AIF1_HUMAN	allograft inflammatory factor 1						actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation	nucleus|ruffle membrane	actin filament binding|calcium ion binding			lung(2)|ovary(1)	3						TCCTCAGTCCCCTGCTGAAAA	0.557000													31	45					7.01153e-11	1.02619e-10	1	1	0
ITIH2	3698	broad.mit.edu	37	10	7776970	7776970	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr10:7776970C>A	ENST00000358415.4	+	15	2039	c.1873C>A	c.(1873-1875)Ctg>Atg	p.L625M	ITIH2_ENST00000379587.4_Missense_Mutation_p.L614M	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	625					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TGTGACTCCGCTGACCTCGCT	0.577000													23	70					7.41877e-09	9.83819e-09	1	1	0
NID2	22795	broad.mit.edu	37	14	52485784	52485784	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr14:52485784G>T	ENST00000216286.5	-	14	3022	c.3023C>A	c.(3022-3024)tCa>tAa	p.S1008*	NID2_ENST00000541773.1_Nonsense_Mutation_p.S907*	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1008						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)					CTCACCTGGTGATGGTCCACA	0.597000													8	30					7.48243e-07	9.37779e-07	1	1	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296361	39296361	+	Missense_Mutation	SNP	A	A	G	rs146882220	by1000genomes	TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr17:39296361A>G	ENST00000345847.4	-	1	378	c.379T>C	c.(379-381)Tcc>Ccc	p.S127P		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	123	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						CAGCACTGGGACCTGCAGCAC	0.652000													4	54					0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71040695	71040695	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr8:71040695C>A	ENST00000452400.2	-	18	3835	c.3654G>T	c.(3652-3654)ttG>ttT	p.L1218F	NCOA2_ENST00000267974.4_Missense_Mutation_p.L306F	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1218					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GCCTCAGAGTCAAGTTCACAT	0.388000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								18	11					3.51602e-12	5.43384e-12	1	1	0
TRBC2	28638	broad.mit.edu	37	7	142498814	142498814	+	RNA	SNP	T	T	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr7:142498814T>G	ENST00000466254.1	+	0	90																											CACACTGGTGTGCCTGGCCAC	0.597000													12	116					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594215	179594215	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:179594215G>T	ENST00000589042.1	-	64	18892	c.18668C>A	c.(18667-18669)aCg>aAg	p.T6223K	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.T4979K|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.T5906K|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5906	Ig-like 43.						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)			AGGTGTTCCCGTAACTTCACA	0.443000													20	78					2.37509e-13	3.82205e-13	1	1	0
EPB41L3	23136	broad.mit.edu	37	18	5406957	5406957	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr18:5406957T>A	ENST00000341928.2	-	16	2508	c.2168A>T	c.(2167-2169)aAa>aTa	p.K723I	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.K554I|EPB41L3_ENST00000540638.2_Missense_Mutation_p.K542I|EPB41L3_ENST00000400111.3_Missense_Mutation_p.K542I|EPB41L3_ENST00000342933.3_Missense_Mutation_p.K723I	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	723	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ATCTTGAGTTTTTTCTAGCTC	0.363000													24	61					0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40854131	40854131	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr18:40854131G>T	ENST00000255224.3	-	2	631	c.263C>A	c.(262-264)cCa>cAa	p.P88Q	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.P70Q	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	88						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TGAATTCTTTGGCACAGCTGG	0.388000													5	47					0.184627	0.187168	1	1	0
CDH10	1008	broad.mit.edu	37	5	24535345	24535345	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr5:24535345T>A	ENST00000264463.4	-	5	1197	c.690A>T	c.(688-690)agA>agT	p.R230S		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	230	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GGTATTGCTCTCTGTTTTCTC	0.428000										HNSCC(23;0.051)			86	64					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037198	75037198	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:75037198G>T	ENST00000326665.5	-	14	4414	c.4196C>A	c.(4195-4197)gCt>gAt	p.A1399D	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1399	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTCCCTGCAGCTGCTGTTTT	0.512000													93	76					4.00701e-44	8.5149e-44	1	1	0
CELF4	56853	broad.mit.edu	37	18	34855156	34855156	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr18:34855156C>A	ENST00000420428.2	-	4	894	c.499G>T	c.(499-501)Gac>Tac	p.D167Y	CELF4_ENST00000591287.1_Missense_Mutation_p.D166Y|CELF4_ENST00000412753.1_Missense_Mutation_p.D167Y|CELF4_ENST00000591282.1_Missense_Mutation_p.D167Y|CELF4_ENST00000334919.5_Missense_Mutation_p.D157Y|CELF4_ENST00000601019.1_Missense_Mutation_p.D166Y|CELF4_ENST00000588597.1_Missense_Mutation_p.D156Y|CELF4_ENST00000361795.5_Missense_Mutation_p.D166Y|CELF4_ENST00000603232.1_Missense_Mutation_p.D167Y|RP11-797E24.3_ENST00000586610.1_RNA|RP11-797E24.3_ENST00000588766.1_RNA	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	167	RRM 2.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CGGCGCACGTCGTCCTCGGAC	0.627000													53	111					1.13205e-32	2.3165e-32	1	1	0
HERC1	8925	broad.mit.edu	37	15	63915014	63915014	+	Splice_Site	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr15:63915014C>A	ENST00000443617.2	-	74	13775	c.13688_splice	c.e74+1	p.R4563_splice		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4563	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACTGCCATACCTGTCCCTATT	0.373000													3	6					1	1	1	1	0
FRMPD4	9758	broad.mit.edu	37	X	12736565	12736565	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:12736565A>G	ENST00000380682.1	+	16	4126	c.3620A>G	c.(3619-3621)cAt>cGt	p.H1207R		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1207					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGCGAGGGCCATTTTTCTCTG	0.597000													58	115					0	0	1	0	0
ZNF708	7562	broad.mit.edu	37	19	21476519	21476519	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:21476519T>C	ENST00000356929.3	-	4	1446	c.1249A>G	c.(1249-1251)Aag>Gag	p.K417E		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TAGGGTTTCTTTCCAGTATGA	0.343000													3	34					0	0	1	0	0
TBX22	50945	broad.mit.edu	37	X	79277775	79277775	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:79277775C>G	ENST00000373294.5	+	1	35	c.7C>G	c.(7-9)Ctg>Gtg	p.L3V	TBX22_ENST00000373296.3_Missense_Mutation_p.L3V|TBX22_ENST00000442340.1_5'UTR|TBX22_ENST00000476373.1_3'UTR	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	3					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGGGATGGCTCTGAGCTCTCG	0.602000													9	60					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38959649	38959649	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:38959649G>A	ENST00000355481.4	+	26	3556	c.3425G>A	c.(3424-3426)tGg>tAg	p.W1142*	RYR1_ENST00000360985.3_Nonsense_Mutation_p.W1142*|RYR1_ENST00000359596.3_Nonsense_Mutation_p.W1142*	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1142	6 X approximate repeats.|B30.2/SPRY 2.				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)	GGGCGCCCCTGGCAGCCGGGC	0.572000													19	67					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032409	10032409	+	Splice_Site	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr16:10032409C>A	ENST00000396573.2	-	4	724		c.e4-1		GRIN2A_ENST00000535259.1_Splice_Site|GRIN2A_ENST00000404927.2_Splice_Site|GRIN2A_ENST00000566670.1_Splice_Site|GRIN2A_ENST00000562109.1_Splice_Site|GRIN2A_ENST00000330684.3_Splice_Site|GRIN2A_ENST00000396575.2_Splice_Site	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A						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)	ACGTCGGATCCTGCCAGTGAA	0.468000													12	36					9.31168e-06	1.11237e-05	1	1	0
ZNF700	90592	broad.mit.edu	37	19	12060151	12060151	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:12060151G>T	ENST00000482090.1	+	3	1676	c.1258G>T	c.(1258-1260)Ggg>Tgg	p.G420W	CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.G438W|ZNF763_ENST00000591944.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						AGTGCACGGTGGGACTCACAC	0.483000													10	65					0.010729	0.0112021	1	1	0
TMEM169	92691	broad.mit.edu	37	2	216964834	216964834	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:216964834G>A	ENST00000454545.1	+	4	789	c.463G>A	c.(463-465)Gac>Aac	p.D155N	TMEM169_ENST00000437356.2_Missense_Mutation_p.D155N|TMEM169_ENST00000295658.4_Missense_Mutation_p.D155N|TMEM169_ENST00000406027.2_Missense_Mutation_p.D155N	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	155						integral to membrane				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATGGGAGCTGACCGTGGGCC	0.512000													34	77					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153588707	153588707	+	Silent	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:153588707G>A	ENST00000422373.1	-	22	3704	c.3456C>T	c.(3454-3456)gcC>gcT	p.A1152A	FLNA_ENST00000360319.4_Silent_p.A1152A|FLNA_ENST00000344736.4_Silent_p.A1152A|FLNA_ENST00000369850.3_Silent_p.A1152A	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1152					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	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)					GAACCACGTGGGCCTTGAATG	0.617000											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	18	86					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51090849	51090849	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr12:51090849G>A	ENST00000301180.5	+	17	1973	c.1939G>A	c.(1939-1941)Gtg>Atg	p.V647M		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	647						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CTTAGGGTCCGTGTCATCCTG	0.458000													10	51					0	0	1	0	0
CLDN2	9075	broad.mit.edu	37	X	106171781	106171781	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:106171781G>T	ENST00000541806.1	+	2	842	c.323G>T	c.(322-324)tGc>tTc	p.C108F	CLDN2_ENST00000336803.1_Missense_Mutation_p.C108F|CLDN2_ENST00000540876.1_Missense_Mutation_p.C108F	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	108					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.C108F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						ACAGTCTTCTGCCAGGAATCC	0.547000													33	77					8.4185e-14	1.38842e-13	1	1	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654565	31654565	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr21:31654565C>G	ENST00000340345.4	-	1	711	c.686G>C	c.(685-687)aGa>aCa	p.R229T		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	229	6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].					keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						GCTCAGAGATCTGAAGCTTCT	0.438000													44	34					0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67318776	67318776	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr16:67318776C>G	ENST00000360461.5	+	12	4388	c.1853C>G	c.(1852-1854)tCa>tGa	p.S618*	PLEKHG4_ENST00000379344.3_Nonsense_Mutation_p.S618*|PLEKHG4_ENST00000427155.2_Nonsense_Mutation_p.S618*|PLEKHG4_ENST00000450733.1_Nonsense_Mutation_p.S537*	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	618					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GGGCTGGGCTCAGAGGCCATC	0.662000													4	36					0	0	1	0	0
OXER1	165140	broad.mit.edu	37	2	42991092	42991092	+	Silent	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:42991092C>A	ENST00000378661.2	-	1	309	c.228G>T	c.(226-228)ggG>ggT	p.G76G		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	76	Ser-rich.				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						CAGAGGACCCCCCCACAGTGG	0.627000													27	49					2.79863e-10	4.04247e-10	1	1	0
ARHGEF17	9828	broad.mit.edu	37	11	73070989	73070989	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:73070989C>T	ENST00000263674.3	+	10	4548	c.4198C>T	c.(4198-4200)Ccc>Tcc	p.P1400S		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1400					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCTTGGTTTCCCCCACCAGGT	0.597000													19	47					0	0	1	0	0
APCDD1	147495	broad.mit.edu	37	18	10487978	10487978	+	Silent	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr18:10487978G>T	ENST00000355285.4	+	5	1842	c.1488G>T	c.(1486-1488)ctG>ctT	p.L496L		NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	496					hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		CCTGGTCCCTGCTGCTGGCTG	0.562000													26	64					1.06801e-11	1.62406e-11	1	1	0
OR51E2	81285	broad.mit.edu	37	11	4703322	4703322	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:4703322C>A	ENST00000396950.3	-	2	859	c.620G>T	c.(619-621)gGc>gTc	p.G207V		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TACGTCCACGCCCATGACCAG	0.488000													20	51					5.03518e-11	7.45162e-11	1	1	0
CLASP1	23332	broad.mit.edu	37	2	122125400	122125400	+	Missense_Mutation	SNP	C	C	A	rs76724451		TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:122125400C>A	ENST00000263710.4	-	35	4039	c.3650G>T	c.(3649-3651)cGc>cTc	p.R1217L	CLASP1_ENST00000541859.1_Missense_Mutation_p.R934L|CLASP1_ENST00000545861.1_Missense_Mutation_p.R924L|CLASP1_ENST00000455322.2_Missense_Mutation_p.R1173L|CLASP1_ENST00000409078.3_Missense_Mutation_p.R1150L|CLASP1_ENST00000541377.1_Missense_Mutation_p.R1156L|CLASP1_ENST00000397587.3_Missense_Mutation_p.R1157L	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1217					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GCCCCCATCGCGGGACACCTG	0.542000													23	66					5.26018e-13	8.30357e-13	1	1	0
AJAP1	55966	broad.mit.edu	37	1	4832342	4832342	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:4832342G>T	ENST00000378191.4	+	4	1301	c.920G>T	c.(919-921)tGt>tTt	p.C307F	AJAP1_ENST00000378190.3_Missense_Mutation_p.C307F	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	307	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TCTTCCAGCTGTGCCCAAAGC	0.612000													13	51					1.00905e-13	1.65185e-13	1	1	0
ANAPC2	29882	broad.mit.edu	37	9	140077638	140077638	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr9:140077638C>A	ENST00000323927.2	-	6	1229	c.1225G>T	c.(1225-1227)Gtg>Ttg	p.V409L		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	409					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GGGTCCAGCACGCGCAGCGCC	0.632000													33	107					3.86903e-22	7.39241e-22	1	1	0
TPO	7173	broad.mit.edu	37	2	1507783	1507783	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:1507783C>A	ENST00000345913.4	+	14	2541	c.2450C>A	c.(2449-2451)aCc>aAc	p.T817N	TPO_ENST00000382201.3_Missense_Mutation_p.T760N|TPO_ENST00000349624.3_Missense_Mutation_p.T644N|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000346956.3_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.T644N|TPO_ENST00000337415.3_Missense_Mutation_p.T817N|TPO_ENST00000329066.4_Missense_Mutation_p.T817N	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	817	EGF-like; calcium-binding (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGCAGAAACACCAAAGGCGGC	0.617000													35	56					9.8876e-21	1.86235e-20	1	1	0
DRD2	1813	broad.mit.edu	37	11	113286306	113286306	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:113286306G>T	ENST00000362072.3	-	5	904	c.560C>A	c.(559-561)cCg>cAg	p.P187Q	DRD2_ENST00000544518.1_Missense_Mutation_p.P186Q|DRD2_ENST00000542968.1_Missense_Mutation_p.P187Q|DRD2_ENST00000538967.1_Missense_Mutation_p.P187Q|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000355319.2_Missense_Mutation_p.P187Q|DRD2_ENST00000346454.3_Missense_Mutation_p.P187Q	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	187					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CACGAAGGCCGGGTTGGCAAT	0.597000													6	30					0.00116845	0.00126789	1	1	0
HUWE1	10075	broad.mit.edu	37	X	53571562	53571562	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:53571562G>T	ENST00000342160.3	-	71	11667	c.11210C>A	c.(11209-11211)aCg>aAg	p.T3737K	HUWE1_ENST00000262854.6_Missense_Mutation_p.T3737K|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3737					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGCCCGGCGCGTGTCGTCCCG	0.537000													7	47					1.06961e-07	1.38237e-07	1	1	0
MAGEA8	4107	broad.mit.edu	37	X	149013294	149013294	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:149013294C>T	ENST00000535454.1	+	4	797	c.248C>T	c.(247-249)tCc>tTc	p.S83F	MAGEA8_ENST00000542674.1_Missense_Mutation_p.S83F|MAGEA8_ENST00000493910.1_3'UTR|MAGEA8_ENST00000286482.1_Missense_Mutation_p.S83F	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	83										NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGCCAATCCGATGAGGGT	0.592000													13	73					0	0	1	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51043396	51043396	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr22:51043396G>T	ENST00000399908.2	+	3	1587	c.871G>T	c.(871-873)Ggt>Tgt	p.G291C	MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.G556C|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.G177C|MAPK8IP2_ENST00000442429.2_Intron|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.G291C|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.G262C	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	557	Ser-rich.				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCTAGGCGGCGGTCAGGTCTC	0.672000													12	47					0.010729	0.0112021	1	1	0
IDH3G	3421	broad.mit.edu	37	X	153051378	153051378	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:153051378C>A	ENST00000217901.5	-	13	1327	c.1131G>T	c.(1129-1131)caG>caT	p.Q377H	IDH3G_ENST00000370093.1_3'UTR|IDH3G_ENST00000370092.3_3'UTR|IDH3G_ENST00000427365.2_3'UTR	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	377					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	GGATGACGTCCTGGATGGCTT	0.647000													39	211					2.46787e-29	4.95818e-29	1	1	0
RP1	6101	broad.mit.edu	37	8	55537555	55537555	+	Silent	SNP	A	A	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr8:55537555A>T	ENST00000220676.1	+	4	1261	c.1113A>T	c.(1111-1113)ggA>ggT	p.G371G		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	371					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTTTTCCAGGAAGAACAGAAA	0.398000													37	21					0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56899334	56899334	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr16:56899334G>T	ENST00000438926.2	+	1	216	c.187G>T	c.(187-189)Gtg>Ttg	p.V63L	SLC12A3_ENST00000566786.1_Missense_Mutation_p.V63L|SLC12A3_ENST00000563236.1_Missense_Mutation_p.V63L|SLC12A3_ENST00000262502.5_Missense_Mutation_p.V63L	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	63					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)	CACGATCGATGTGGTGCCCAC	0.607000													25	140					1.55469e-16	2.69833e-16	1	1	0
BRD7	29117	broad.mit.edu	37	16	50354603	50354603	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr16:50354603C>T	ENST00000394688.3	-	14	1742	c.1583G>A	c.(1582-1584)gGc>gAc	p.G528D	BRD7_ENST00000394689.2_Missense_Mutation_p.G529D			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	528					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				AACTGGAACGCCAAAATTTGT	0.428000													11	104					0	0	1	0	0
SLC9A6	10479	broad.mit.edu	37	X	135067912	135067912	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:135067912C>T	ENST00000370695.4	+	1	286	c.251C>T	c.(250-252)aCc>aTc	p.T84I	SLC9A6_ENST00000370698.3_Missense_Mutation_p.T84I|SLC9A6_ENST00000370701.1_Missense_Mutation_p.T32I	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	84					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CTCACCCTCACCATTCTCACA	0.592000													40	265					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20869741	20869741	+	Splice_Site	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr14:20869741C>A	ENST00000262715.5	-	8	1307		c.e8-1		TEP1_ENST00000556935.1_Splice_Site	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1						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)		CCTTCTCAAACTGTGGAAACA	0.498000													28	78					3.73148e-12	5.75342e-12	1	1	0
SEL1L	6400	broad.mit.edu	37	14	81953873	81953873	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr14:81953873C>A	ENST00000336735.4	-	16	1609	c.1493G>T	c.(1492-1494)gGa>gTa	p.G498V		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	498	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TCTCTTGACTCCAATGCCATC	0.343000													17	42					1.56452e-12	2.43493e-12	1	1	0
NLRP9	338321	broad.mit.edu	37	19	56244424	56244424	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:56244424C>A	ENST00000332836.2	-	2	800	c.773G>T	c.(772-774)aGc>aTc	p.S258I		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	258	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CAACAAACTGCTCAGGATAAT	0.413000													7	39					0.00448238	0.00476253	1	1	0
SH3RF1	57630	broad.mit.edu	37	4	170017716	170017716	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:170017716T>A	ENST00000284637.9	-	12	2962	c.2621A>T	c.(2620-2622)aAt>aTt	p.N874I		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	874	SH3 4.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		AGTTTTCCCATTACGTTGTAA	0.408000													17	29					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50985661	50985661	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr18:50985661C>A	ENST00000442544.2	+	24	4068	c.3452C>A	c.(3451-3453)cCt>cAt	p.P1151H	DCC_ENST00000581580.1_Missense_Mutation_p.P786H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1151					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTCCGACCCCCTGATCTTTGG	0.488000													5	66					0.0215528	0.0221199	1	1	0
MS4A3	932	broad.mit.edu	37	11	59830042	59830042	+	Silent	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:59830042C>T	ENST00000278865.3	+	3	331	c.258C>T	c.(256-258)acC>acT	p.T86T	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)	86	Poly-Phe.					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)				TTTTCTTCACCTTCTACACAG	0.453000													29	78					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36780004	36780004	+	Silent	SNP	T	T	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr3:36780004T>C	ENST00000416516.2	-	2	637	c.147A>G	c.(145-147)aaA>aaG	p.K49K		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	49						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GGTGGTCTCCTTTCAGAGCCT	0.622000													34	59					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70064157	70064157	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr6:70064157C>A	ENST00000370598.1	+	27	4313	c.3492C>A	c.(3490-3492)aaC>aaA	p.N1164K	BAI3_ENST00000546190.1_Missense_Mutation_p.N128K|BAI3_ENST00000238918.8_Missense_Mutation_p.N370K	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1164					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GATTGAGAAACTGTCAGGATC	0.398000													22	44					2.48779e-11	3.75719e-11	1	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85517849	85517849	+	Splice_Site	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr12:85517849G>T	ENST00000393217.2	+	17	3620	c.3557_splice	c.e17-1	p.D1187_splice		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1187										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTTGTTCAGAGATGTATTTAC	0.323000													4	10					0.00909568	0.00954183	1	1	0
MS4A10	341116	broad.mit.edu	37	11	60557889	60557889	+	Silent	SNP	C	C	G	rs148652592		TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:60557889C>G	ENST00000308287.1	+	2	177	c.81C>G	c.(79-81)ccC>ccG	p.P27P		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	27						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						CAGTCCAGCCCTGGCAGACAA	0.592000													49	93					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40839855	40839855	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr17:40839855C>A	ENST00000264638.4	+	8	1379	c.1162C>A	c.(1162-1164)Cgc>Agc	p.R388S	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	388					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AGTCTCATTTCGCTTCCGCAC	0.642000													19	123					1.01871e-10	1.48115e-10	1	1	0
TNNI3K	51086	broad.mit.edu	37	1	74957883	74957883	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:74957883G>T	ENST00000370891.2	+	25	2603	c.2587G>T	c.(2587-2589)Gca>Tca	p.A863S	LRRC53_ENST00000294635.4_Intron|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.A863S|TNNI3K_ENST00000326637.3_Missense_Mutation_p.A762S	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						TCATGTGGCAGCATTAAGAAG	0.468000													65	34					8.3131e-28	1.66012e-27	1	1	0
CDH10	1008	broad.mit.edu	37	5	24487843	24487843	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr5:24487843G>C	ENST00000264463.4	-	12	2803	c.2296C>G	c.(2296-2298)Cga>Gga	p.R766G	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	766					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R766*(1)|p.R766R(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCCCATTCTCGGAGGTAATCG	0.413000										HNSCC(23;0.051)			29	182					0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180632	124180632	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:124180632G>T	ENST00000357821.2	-	1	101	c.31C>A	c.(31-33)Cag>Aag	p.Q11K		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AAGACAAACTGAGCTGCCATA	0.448000													15	80					4.93089e-13	7.80234e-13	1	1	0
PADI3	51702	broad.mit.edu	37	1	17593261	17593261	+	Silent	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:17593261G>T	ENST00000375460.3	+	5	496	c.456G>T	c.(454-456)gtG>gtT	p.V152V		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	152					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)	TCTTGCTGGTGAACTGTGACC	0.597000													51	85					9.57592e-29	1.91808e-28	1	1	0
FRYL	285527	broad.mit.edu	37	4	48559680	48559680	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:48559680C>A	ENST00000537810.1	-	34	4519	c.3915G>T	c.(3913-3915)atG>atT	p.M1305I	FRYL_ENST00000507711.1_Missense_Mutation_p.M1305I|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.M1305I|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.M1305I			O94915	FRYL_HUMAN	FRY-like	1305					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GGTAGTGCAGCATCACCTGCC	0.463000													15	84					4.93089e-13	7.80234e-13	1	1	0
FAM179B	23116	broad.mit.edu	37	14	45523633	45523633	+	Splice_Site	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr14:45523633G>T	ENST00000361462.2	+	16	4623		c.e16-1		FAM179B_ENST00000382233.2_Splice_Site|FAM179B_ENST00000361577.3_Splice_Site			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B								binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TTTACTTGCAGGGTTTGGGGG	0.313000													6	25					0.00116845	0.00126789	1	1	0
CCL23	6368	broad.mit.edu	37	17	34340926	34340926	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr17:34340926G>T	ENST00000293280.2	-	3	230	c.160C>A	c.(160-162)Cct>Act	p.P54T	CCL23_ENST00000591423.1_Intron	NM_005064.3	NP_005055.2	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	46					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	GTCATCTGAGGACCAATCTTT	0.547000													5	54					0.0215528	0.0221199	1	1	0
UNC13A	23025	broad.mit.edu	37	19	17743613	17743613	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:17743613C>A	ENST00000428389.2	-	29	3669	c.3670G>T	c.(3670-3672)Gac>Tac	p.D1224Y	UNC13A_ENST00000550896.1_Missense_Mutation_p.D1134Y|UNC13A_ENST00000551649.1_Missense_Mutation_p.D1136Y|UNC13A_ENST00000519716.2_Missense_Mutation_p.D1136Y|UNC13A_ENST00000252773.7_Missense_Mutation_p.D1136Y|UNC13A_ENST00000552293.1_Missense_Mutation_p.D1136Y			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1136	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGCACGCGGTCCTTGAAGGCG	0.542000													17	48					1.37522e-17	2.42493e-17	1	1	0
OPHN1	4983	broad.mit.edu	37	X	67426497	67426497	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:67426497C>A	ENST00000355520.5	-	10	1492	c.851G>T	c.(850-852)tGg>tTg	p.W284L	OPHN1_ENST00000540071.1_Missense_Mutation_p.W284L	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	284	PH.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GTATTTCACCCAGGATATTCC	0.428000													18	40					7.07596e-05	8.18737e-05	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57766653	57766653	+	Silent	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr20:57766653G>T	ENST00000371030.2	+	1	579	c.579G>T	c.(577-579)acG>acT	p.T193T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	193						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACAGGCGGACGCAGACGCACC	0.662000													36	84					2.09667e-21	3.96037e-21	1	1	0
OR6M1	390261	broad.mit.edu	37	11	123676816	123676816	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:123676816G>T	ENST00000309154.2	-	1	279	c.242C>A	c.(241-243)gCc>gAc	p.A81D		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TAGGAGGCAGGCCAACAACTT	0.433000													31	58					2.36697e-06	2.89006e-06	1	1	0
OR5R1	219479	broad.mit.edu	37	11	56185685	56185685	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:56185685A>T	ENST00000312253.1	-	1	23	c.24T>A	c.(22-24)taT>taA	p.Y8*		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					ATACAGTGACATAAATGATAT	0.403000													29	89					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87704996	87704996	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr7:87704996G>A	ENST00000398204.4	+	4	702	c.379G>A	c.(379-381)Gtg>Atg	p.V127M	ADAM22_ENST00000265727.7_Missense_Mutation_p.V127M|ADAM22_ENST00000439864.1_Missense_Mutation_p.V127M|ADAM22_ENST00000315984.7_Missense_Mutation_p.V127M|ADAM22_ENST00000398201.4_Missense_Mutation_p.V127M|ADAM22_ENST00000398209.3_Missense_Mutation_p.V127M	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	127					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AGGCAAGACTGTGGAAGTTAA	0.308000													15	19					0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27164859	27164859	+	Silent	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:27164859C>T	ENST00000288699.6	+	10	1289	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	DPYSL5_ENST00000401478.1_Silent_p.T377T	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	377					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGCCGTTACCAGTTCCAACG	0.537000											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	58	99					0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53612164	53612164	+	Silent	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:53612164G>A	ENST00000455735.2	-	7	1598	c.1278C>T	c.(1276-1278)caC>caT	p.H426H	ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000440291.1_Silent_p.H365H|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000601493.1_Silent_p.H148H|ZNF415_ENST00000500065.4_Silent_p.H378H|ZNF415_ENST00000421033.1_Silent_p.H390H|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000243643.4_Silent_p.H378H|ZNF415_ENST00000448501.1_Silent_p.H426H|ZNF415_ENST00000594011.1_3'UTR			Q09FC8	ZN415_HUMAN	zinc finger protein 415	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TCTCCCCAGTGTGAATTCTCT	0.418000													3	28					0	0	1	0	0
TMEM63B	55362	broad.mit.edu	37	6	44107279	44107279	+	Silent	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr6:44107279G>T	ENST00000259746.9	+	7	666	c.483G>T	c.(481-483)ctG>ctT	p.L161L	TMEM63B_ENST00000527188.1_3'UTR|TMEM63B_ENST00000323267.6_Silent_p.L161L			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	161						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			TCATCGGGCTGCTGGTGGTTG	0.612000													11	80					0.0692343	0.0707278	1	1	0
TRPM6	140803	broad.mit.edu	37	9	77378002	77378002	+	Silent	SNP	A	A	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr9:77378002A>G	ENST00000451710.3	-	26	3822	c.3585T>C	c.(3583-3585)tcT>tcC	p.S1195S	TRPM6_ENST00000449912.2_Silent_p.S1190S|TRPM6_ENST00000376864.4_Silent_p.S1195S|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.S1190S|TRPM6_ENST00000360774.1_Silent_p.S1195S			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1195					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						CCTTTATAAAAGACACCTTTT	0.463000													15	53					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321725	52321725	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr8:52321725G>T	ENST00000356297.4	-	17	2559	c.2459C>A	c.(2458-2460)gCg>gAg	p.A820E	PXDNL_ENST00000543296.1_Missense_Mutation_p.A820E	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	820					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGTGCTCAGCGCAGGCACTGT	0.682000													25	25					7.87624e-14	1.30223e-13	1	1	0
BNC1	646	broad.mit.edu	37	15	83926257	83926257	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr15:83926257G>T	ENST00000345382.2	-	5	3007	c.2922C>A	c.(2920-2922)aaC>aaA	p.N974K	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.N967K	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	974					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GGCTGTGTCTGTTTCGACTGC	0.498000													32	91					2.47316e-13	3.97023e-13	1	1	0
NCOA2	10499	broad.mit.edu	37	8	71075701	71075701	+	Splice_Site	SNP	T	T	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr8:71075701T>C	ENST00000452400.2	-	8	1012	c.832_splice	c.e8+1	p.Q277_splice		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	277					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GAAATTTACCTTGGAGATCCT	0.403000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								5	52					0	0	1	0	0
CHRM1	1128	broad.mit.edu	37	11	62678371	62678371	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:62678371C>T	ENST00000306960.3	-	2	743	c.202G>A	c.(202-204)Gcc>Acc	p.A68T	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	68					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	TCAGCACAGGCCAGGCTCAGC	0.552000													10	64					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77243852	77243852	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:77243852G>T	ENST00000341514.6	+	3	390	c.235G>T	c.(235-237)Gac>Tac	p.D79Y	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.D79Y	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	79					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						CCATAATCCTGACCCTCTCCC	0.433000													70	145					2.73218e-42	5.78734e-42	1	1	0
ARHGEF17	9828	broad.mit.edu	37	11	73021294	73021294	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:73021294G>T	ENST00000263674.3	+	1	1961	c.1611G>T	c.(1609-1611)ttG>ttT	p.L537F		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	537					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TCAAGGACTTGACAGCCACTC	0.637000													18	78					6.49762e-13	1.01842e-12	1	1	0
POMT1	10585	broad.mit.edu	37	9	134379692	134379692	+	Silent	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr9:134379692C>T	ENST00000423007.1	+	2	529	c.87C>T	c.(85-87)agC>agT	p.S29S	POMT1_ENST00000404875.2_Intron|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000354713.4_Silent_p.S29S|POMT1_ENST00000419118.2_Intron|POMT1_ENST00000341012.7_Intron|POMT1_ENST00000372228.3_Silent_p.S29S|POMT1_ENST00000402686.3_Silent_p.S29S	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	29					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		GGTTACTGAGCCGGCTGTGGC	0.542000											OREG0019563	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	61					0	0	1	0	0
TRIM63	84676	broad.mit.edu	37	1	26385006	26385006	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:26385006C>A	ENST00000374272.3	-	5	844	c.706G>T	c.(706-708)Gag>Tag	p.E236*		NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	236						cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTTTTTCTCCTGCTCCTGC	0.527000													68	62					5.45122e-27	1.08533e-26	1	1	0
FBXO40	51725	broad.mit.edu	37	3	121341054	121341054	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr3:121341054G>T	ENST00000338040.4	+	3	1192	c.778G>T	c.(778-780)Gga>Tga	p.G260*		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	260					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CATGGTAGAAGGAGAGGGCGC	0.502000													9	23					1.12685e-05	1.3413e-05	1	1	0
ARSI	340075	broad.mit.edu	37	5	149681849	149681849	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr5:149681849C>A	ENST00000328668.7	-	1	667	c.88G>T	c.(88-90)Gac>Tac	p.D30Y		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	30						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGGGCCCGTCGGCCACGAAG	0.692000													3	15					0.000602214	0.000665447	1	1	0
CHD3	1107	broad.mit.edu	37	17	7803999	7803999	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr17:7803999G>T	ENST00000380358.4	+	18	3106	c.3105G>T	c.(3103-3105)atG>atT	p.M1035I	CHD3_ENST00000330494.7_Missense_Mutation_p.M976I|CHD3_ENST00000358181.4_Missense_Mutation_p.M976I	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	976					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TTAAGAACATGCCAGCCAAGA	0.517000													25	34					4.7796e-09	6.40177e-09	1	1	0
FUT8	2530	broad.mit.edu	37	14	66028412	66028412	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr14:66028412C>G	ENST00000360689.5	+	3	1858	c.131C>G	c.(130-132)tCc>tGc	p.S44C	FUT8_ENST00000394586.2_Missense_Mutation_p.S44C|FUT8_ENST00000394585.1_Missense_Mutation_p.S44C|FUT8_ENST00000358307.2_Intron|FUT8_ENST00000557164.1_Intron	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	44					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CGAGAACTGTCCAAGATTCTG	0.433000													14	80					0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220835211	220835211	+	Silent	SNP	G	G	T	rs138556005	by1000genomes	TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:220835211G>T	ENST00000402574.1	+	17	2643	c.1641G>T	c.(1639-1641)ccG>ccT	p.P547P	MARK1_ENST00000366917.4_Silent_p.P697P|MARK1_ENST00000366918.4_Silent_p.P660P	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	697					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		ATTCTAAGCCGCGTTCTTTGC	0.413000													8	44					0.000157383	0.00017776	1	1	0
LRSAM1	90678	broad.mit.edu	37	9	130241233	130241233	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr9:130241233G>T	ENST00000323301.4	+	11	1375	c.771G>T	c.(769-771)gaG>gaT	p.E257D	LRSAM1_ENST00000373322.1_Missense_Mutation_p.E257D|LRSAM1_ENST00000373324.4_Missense_Mutation_p.E257D|LRSAM1_ENST00000300417.6_Missense_Mutation_p.E257D	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	257					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CAGACTATGAGAAGAGGAAGG	0.453000													18	49					2.4624e-09	3.33859e-09	1	1	0
PRR11	55771	broad.mit.edu	37	17	57272166	57272166	+	Silent	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr17:57272166C>T	ENST00000262293.4	+	6	1006	c.694C>T	c.(694-696)Ctg>Ttg	p.L232L		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	232										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AGTTAAAGATCTGCTGACTGT	0.353000													4	74					0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122774708	122774708	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:122774708G>T	ENST00000227349.2	+	3	717	c.420G>T	c.(418-420)caG>caT	p.Q140H	C11orf63_ENST00000307257.6_Missense_Mutation_p.Q140H|C11orf63_ENST00000531316.1_Missense_Mutation_p.Q140H	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	140										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AGGAAGGGCAGCTGCTGTCTG	0.517000													39	133					3.33393e-15	5.66769e-15	1	1	0
SYT16	83851	broad.mit.edu	37	14	62550985	62550985	+	Silent	SNP	T	T	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr14:62550985T>A	ENST00000430451.2	+	5	1703	c.1506T>A	c.(1504-1506)tcT>tcA	p.S502S		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	502										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AGTCGCTGTCTCATGGAGGGG	0.542000													34	84					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54754933	54754933	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:54754933C>A	ENST00000450632.1	-	13	1779	c.1702G>T	c.(1702-1704)Ggg>Tgg	p.G568W	LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	369					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGGAATTCCCCAGACAGTGGG	0.597000													8	29					2.4624e-09	3.33859e-09	1	1	0
GRM1	2911	broad.mit.edu	37	6	146351142	146351142	+	Silent	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr6:146351142C>A	ENST00000392299.2	+	2	959	c.489C>A	c.(487-489)ggC>ggA	p.G163G	GRM1_ENST00000507907.1_Silent_p.G163G|GRM1_ENST00000355289.4_Silent_p.G163G|GRM1_ENST00000492807.2_Silent_p.G163G|GRM1_ENST00000361719.2_Silent_p.G163G|GRM1_ENST00000282753.1_Silent_p.G163G			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	163					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TCGGTCCCGGCTCCAGCTCTG	0.567000													42	90					2.19962e-31	4.48723e-31	1	1	0
MAGEC1	9947	broad.mit.edu	37	X	140995410	140995410	+	Silent	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:140995410C>A	ENST00000285879.4	+	4	2506	c.2220C>A	c.(2218-2220)ctC>ctA	p.L740L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	740							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)					AGTCTTCTCTCCAGAGTCCTG	0.557000										HNSCC(15;0.026)			35	153					1.836e-18	3.28992e-18	1	1	0
SLIT1	6585	broad.mit.edu	37	10	98917589	98917589	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr10:98917589C>A	ENST00000266058.4	-	4	644	c.399G>T	c.(397-399)caG>caT	p.Q133H	SLIT1_ENST00000456008.2_5'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.Q133H|SLIT1_ENST00000371041.3_Missense_Mutation_p.Q133H|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	133					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TTGACAAAGCCTGGTTGTTCT	0.517000													59	161					1.1362e-29	2.28966e-29	1	1	0
SREBF1	6720	broad.mit.edu	37	17	17720655	17720655	+	Silent	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr17:17720655C>A	ENST00000355815.4	-	9	1780	c.1611G>T	c.(1609-1611)ctG>ctT	p.L537L	SREBF1_ENST00000395757.1_Silent_p.L253L|SREBF1_ENST00000261646.5_Silent_p.L507L|SREBF1_ENST00000338854.5_Silent_p.L507L	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	507					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CCCGGGCCCCCAGCAAGGAGG	0.701000													6	9					8.12818e-05	9.33966e-05	1	1	0
ACO2	50	broad.mit.edu	37	22	41911488	41911488	+	Silent	SNP	C	C	T	rs1049859		TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr22:41911488C>T	ENST00000396512.3	+	5	650	c.633C>T	c.(631-633)gcC>gcT	p.A211A	ACO2_ENST00000216254.4_Silent_p.A211A			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	211					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						TTGGGGGTGCCGATGCTGTGG	0.607000													11	82					0	0	1	0	0
CYS1	192668	broad.mit.edu	37	2	10206045	10206045	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:10206045G>T	ENST00000381813.4	-	2	544	c.357C>A	c.(355-357)agC>agA	p.S119R	CYS1_ENST00000477304.1_5'UTR	NM_001037160.2	NP_001032237.1	Q717R9	CYS1_HUMAN	cystin 1	119						cilium axoneme				large_intestine(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.166)|OV - Ovarian serous cystadenocarcinoma(76;0.227)		AGACATTGCCGCTCCCCGGGT	0.552000													10	44					2.17888e-05	2.56589e-05	1	1	0
RIMS2	9699	broad.mit.edu	37	8	104987701	104987701	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr8:104987701G>T	ENST00000507740.1	+	13	2506	c.2270G>T	c.(2269-2271)aGa>aTa	p.R757I	RIMS2_ENST00000436393.2_Missense_Mutation_p.R743I|RIMS2_ENST00000262231.10_Missense_Mutation_p.R804I|RIMS2_ENST00000406091.3_Missense_Mutation_p.R965I	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1027					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGAAGGACTAGATCATGGTCA	0.428000										HNSCC(12;0.0054)			33	9					1.42033e-22	2.73744e-22	1	1	0
ZNF549	256051	broad.mit.edu	37	19	58050077	58050077	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:58050077C>T	ENST00000376233.3	+	4	1886	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C	ZNF549_ENST00000240719.3_Missense_Mutation_p.R556C|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	569					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTTAGACACCGCACCAGCCT	0.443000													11	35					0	0	1	0	0
GIPC1	10755	broad.mit.edu	37	19	14593767	14593767	+	Silent	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:14593767G>T	ENST00000393033.4	-	4	291	c.22C>A	c.(22-24)Cgg>Agg	p.R8R	GIPC1_ENST00000586027.1_Silent_p.R8R|GIPC1_ENST00000393029.3_Intron|GIPC1_ENST00000591349.1_Intron|GIPC1_ENST00000345425.2_Silent_p.R8R|GIPC1_ENST00000393028.1_Intron	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	8					endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GCCTTTTTCCGCCGCCCCAGT	0.687000													3	36					0.004672	0.00494814	1	1	0
ZER1	10444	broad.mit.edu	37	9	131513522	131513522	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr9:131513522T>A	ENST00000291900.2	-	7	1470	c.1064A>T	c.(1063-1065)cAg>cTg	p.Q355L		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	355					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						ATTCAGCACCTGCTCTTCGTT	0.592000													10	30					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160063244	160063244	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr5:160063244A>T	ENST00000327245.5	-	11	1919	c.1073T>A	c.(1072-1074)cTt>cAt	p.L358H	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	358					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			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCACTGGGAAGGAAGCTGCC	0.537000													22	25					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67753922	67753922	+	Splice_Site	SNP	T	T	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr18:67753922T>G	ENST00000255674.6	-	32	4589		c.e32-2		RTTN_ENST00000454359.1_Splice_Site|RTTN_ENST00000437017.1_Splice_Site	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin								binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AAATGCCGCCTGAAAATGTaa	0.279000													4	27					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130095133	130095133	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr3:130095133C>A	ENST00000265379.6	+	3	615	c.121C>A	c.(121-123)Ctg>Atg	p.L41M	COL6A5_ENST00000432398.2_Missense_Mutation_p.L41M			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	41	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CTCCGATCACCTGGGACCTAA	0.448000													14	24					2.62699e-14	4.35423e-14	1	1	0
OVCH1	341350	broad.mit.edu	37	12	29650589	29650589	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr12:29650589G>T	ENST00000318184.5	-	1	30	c.31C>A	c.(31-33)Ctg>Atg	p.L11M		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	11					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)					ACCAGCAACAGCAACAAACCA	0.642000													26	40					4.22769e-11	6.28467e-11	1	1	0
GAL3ST1	9514	broad.mit.edu	37	22	30951880	30951880	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr22:30951880C>A	ENST00000402321.1	-	3	649	c.332G>T	c.(331-333)gGc>gTc	p.G111V	GAL3ST1_ENST00000406361.1_Missense_Mutation_p.G111V|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.G111V|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.G111V|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.G111V|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.G111V|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.G111V			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	111					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						GTCATTGCGGCCGTTAGGGAA	0.597000													38	134					2.59497e-14	4.32278e-14	1	1	0
KLF4	9314	broad.mit.edu	37	9	110249590	110249590	+	Missense_Mutation	SNP	G	G	T	rs139364854		TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr9:110249590G>T	ENST00000374672.4	-	3	1558	c.1085C>A	c.(1084-1086)cCg>cAg	p.P362Q		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	362	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GTAATGGAGCGGCGGGACTTG	0.652000													5	18					1.23904e-05	1.46693e-05	1	1	0
ATP2A3	489	broad.mit.edu	37	17	3844419	3844419	+	Missense_Mutation	SNP	G	G	A	rs144159559		TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr17:3844419G>A	ENST00000309890.7	-	14	2096	c.1946C>T	c.(1945-1947)gCg>gTg	p.A649V	ATP2A3_ENST00000359983.3_Missense_Mutation_p.A649V|ATP2A3_ENST00000397043.3_Missense_Mutation_p.A649V|ATP2A3_ENST00000397041.3_Missense_Mutation_p.A649V|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397035.3_Missense_Mutation_p.A649V|ATP2A3_ENST00000352011.3_Missense_Mutation_p.A649V	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	649					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GGCCTTGCCCGCCACGTCTTC	0.687000													15	128					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36332676	36332676	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:36332676G>A	ENST00000378910.5	-	20	2755	c.2756C>T	c.(2755-2757)aCa>aTa	p.T919I	NPHS1_ENST00000353632.6_Missense_Mutation_p.T919I	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	919	Ig-like C2-type 8.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGCTGTACATGTGAAGAGGGC	0.587000													6	45					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105360930	105360930	+	Silent	SNP	C	C	A	rs144686783		TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr8:105360930C>A	ENST00000297581.2	+	2	199	c.150C>A	c.(148-150)gcC>gcA	p.A50A	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Silent_p.A50A	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	50					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											TGTCTGTGGCCGCCTGCTGGT	0.507000													170	109					6.21942e-97	1.33446e-96	1	1	0
MLLT4	4301	broad.mit.edu	37	6	168298948	168298948	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr6:168298948G>T	ENST00000366806.2	+	11	1523	c.1381G>T	c.(1381-1383)Gtg>Ttg	p.V461L	MLLT4_ENST00000392112.1_Missense_Mutation_p.V445L|MLLT4_ENST00000344191.4_Missense_Mutation_p.V461L|MLLT4_ENST00000351017.4_Missense_Mutation_p.V461L|MLLT4_ENST00000447894.2_Missense_Mutation_p.V461L|MLLT4_ENST00000400822.3_Missense_Mutation_p.V460L|MLLT4_ENST00000392108.3_Missense_Mutation_p.V461L			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	461	FHA.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGTGGTCACTGTGACGCCCAG	0.527000			T	MLL	AL								14	37					3.27435e-08	4.28185e-08	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57769378	57769378	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr20:57769378G>T	ENST00000371030.2	+	1	3304	c.3304G>T	c.(3304-3306)Gag>Tag	p.E1102*		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1102						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACCCAACTGGGAGCTGGGGGA	0.652000													18	62					5.35267e-07	6.734e-07	1	1	0
NRSN1	140767	broad.mit.edu	37	6	24146140	24146140	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr6:24146140G>A	ENST00000378491.4	+	4	855	c.554G>A	c.(553-555)aGg>aAg	p.R185K		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	185					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						ACTTTGTCCAGGGTTCAAAAT	0.483000													28	67					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135742006	135742006	+	Missense_Mutation	SNP	G	G	A	rs148564742		TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr3:135742006G>A	ENST00000334546.2	+	1	430	c.95G>A	c.(94-96)cGg>cAg	p.R32Q	PPP2R3A_ENST00000490467.1_Intron|PPP2R3A_ENST00000264977.3_Intron	NM_181897.2	NP_871626.1	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	0					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTCCCTTCACGGTTTAAGAAG	0.393000													10	64					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178551983	178551983	+	Silent	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr5:178551983G>T	ENST00000251582.7	-	19	3050	c.2949C>A	c.(2947-2949)ccC>ccA	p.P983P		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	983	TSP type-1 4.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCTGGGACCAGGGCCCGGCTC	0.697000													28	62					8.88839e-20	1.64609e-19	1	1	0
CATSPERD	257062	broad.mit.edu	37	19	5772928	5772928	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:5772928G>T	ENST00000381624.3	+	20	1954	c.1893G>T	c.(1891-1893)tgG>tgT	p.W631C	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	631						integral to membrane											CGCAGAACTGGACCACCATGA	0.562000													6	55					5.18039e-06	6.2221e-06	1	1	0
CLCN1	1180	broad.mit.edu	37	7	143039161	143039161	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr7:143039161G>T	ENST00000343257.2	+	15	1809	c.1722G>T	c.(1720-1722)caG>caT	p.Q574H		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	574					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)					AGAGCCTGCAGCCCTCTCTCT	0.532000													35	47					4.65686e-17	8.14644e-17	1	1	0
PCDH10	57575	broad.mit.edu	37	4	134071395	134071395	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:134071395G>A	ENST00000264360.4	+	1	926	c.100G>A	c.(100-102)Gtg>Atg	p.V34M		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	34	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V34M(1)		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)		TGGCACTTTCGTGGGGAATAT	0.498000													15	94					0	0	1	0	0
ZNF253	56242	broad.mit.edu	37	19	20002725	20002725	+	Silent	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:20002725C>T	ENST00000589717.1	+	4	761	c.669C>T	c.(667-669)acC>acT	p.T223T	ZNF253_ENST00000355650.4_Silent_p.T147T	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	223				Missing (in Ref. 1; AAC26844).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAATTCATACCGGAGAGAAAC	0.378000													3	25					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80816455	80816455	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:80816455G>C	ENST00000466387.1	+	19	2758	c.2034G>C	c.(2032-2034)gaG>gaC	p.E678D	CTNNA2_ENST00000496558.1_Missense_Mutation_p.E678D|CTNNA2_ENST00000541047.1_Missense_Mutation_p.E678D|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000540488.1_Missense_Mutation_p.E678D|CTNNA2_ENST00000361291.4_Missense_Mutation_p.E712D|CTNNA2_ENST00000343114.3_Missense_Mutation_p.E357D|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000402739.4_Missense_Mutation_p.E678D|AC008067.2_ENST00000596887.1_RNA			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	678					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TACCGCAGGAGGAGAAGGCAA	0.502000													15	38					0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30358225	30358225	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr20:30358225G>C	ENST00000340513.4	+	6	964	c.436G>C	c.(436-438)Gcc>Ccc	p.A146P	TPX2_ENST00000300403.6_Missense_Mutation_p.A146P			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	146					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CAAGAGATGTGCCACTCCTGT	0.388000													18	51					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618387	77618387	+	Silent	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr8:77618387G>T	ENST00000521891.2	+	2	2512	c.2064G>T	c.(2062-2064)cgG>cgT	p.R688R	ZFHX4_ENST00000518282.1_Silent_p.R688R|ZFHX4_ENST00000455469.2_Silent_p.R688R|ZFHX4_ENST00000050961.6_Silent_p.R688R|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	688						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)			GGCTTGCCCGGGGTGAGAGTT	0.517000										HNSCC(33;0.089)			5	67					0.000602214	0.000665447	1	1	0
ZBTB39	9880	broad.mit.edu	37	12	57397533	57397533	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr12:57397533T>C	ENST00000300101.2	-	2	1254	c.1169A>G	c.(1168-1170)cAt>cGt	p.H390R		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GGACAGGACATGAGTTACCCG	0.542000													14	64					0	0	1	0	0
ZNF727	442319	broad.mit.edu	37	7	63538100	63538100	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr7:63538100A>G	ENST00000550760.3	+	4	852	c.673A>G	c.(673-675)Aag>Gag	p.K225E		NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						TCATACTGGAAAGAAACCCTA	0.373000													3	5					0	0	1	0	0
DNAJC1	64215	broad.mit.edu	37	10	22207777	22207777	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr10:22207777A>T	ENST00000376980.3	-	6	950	c.660T>A	c.(658-660)caT>caA	p.H220Q		NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	220					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				GAAGCAAATCATGCCACTGTG	0.378000													18	29					0	0	1	0	0
GALT	2592	broad.mit.edu	37	9	34647227	34647227	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr9:34647227G>T	ENST00000378842.3	+	2	266	c.224G>T	c.(223-225)tGt>tTt	p.C75F	GALT_ENST00000556278.1_Missense_Mutation_p.C75F|GALT_ENST00000450095.2_Missense_Mutation_p.V8F	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	75					galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		AACCCTCTGTGTCCTGGGGCC	0.627000									Galactosemia		OREG0019158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	57					1.00905e-13	1.65185e-13	1	1	0
NTRK2	4915	broad.mit.edu	37	9	87635123	87635123	+	Silent	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr9:87635123C>A	ENST00000376214.1	+	20	3113	c.2175C>A	c.(2173-2175)gtC>gtA	p.V725V	NTRK2_ENST00000376213.1_Silent_p.V709V|NTRK2_ENST00000277120.3_Silent_p.V725V|NTRK2_ENST00000323115.4_Silent_p.V709V	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	709	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						CTCCCCAGGTCGGTGGCCACA	0.567000										TSP Lung(25;0.17)			23	76					1.64293e-13	2.67633e-13	1	1	0
PBX2	5089	broad.mit.edu	37	6	32157563	32157563	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr6:32157563C>T	ENST00000375050.4	-	1	400	c.130G>A	c.(130-132)Gtc>Atc	p.V44I		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	44							transcription factor binding	p.V44F(2)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						CCTCCCGGGACCCCCCCGCTA	0.711000													5	67					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28424087	28424087	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr15:28424087G>A	ENST00000261609.7	-	59	9217	c.9109C>T	c.(9109-9111)Cgg>Tgg	p.R3037W		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3037					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTGATCTGCCGTGGGATGGGC	0.617000													7	163					0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101350983	101350983	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr14:101350983G>T	ENST00000534062.1	-	1	201	c.143C>A	c.(142-144)gCc>gAc	p.A48D		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	48										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TGGGCCGCTGGCTGGCCCTGC	0.602000													14	38					2.32078e-09	3.16601e-09	1	1	0
RIPK2	8767	broad.mit.edu	37	8	90798857	90798857	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr8:90798857G>A	ENST00000220751.4	+	9	1380	c.1066G>A	c.(1066-1068)Ggt>Agt	p.G356S	RIPK2_ENST00000540020.1_Missense_Mutation_p.G219S	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	356					activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TGAAAATAGTGGTTCTCCTGA	0.318000													6	120					0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2775007	2775007	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr20:2775007G>T	ENST00000380605.2	-	14	2098	c.2034C>A	c.(2032-2034)taC>taA	p.Y678*		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	678					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCACTGAATGGTAGCCCTCGG	0.607000													20	38					5.03518e-11	7.45162e-11	1	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125299717	125299717	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:125299717C>A	ENST00000538699.1	-	2	271	c.191G>T	c.(190-192)gGc>gTc	p.G64V	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.G64V	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	64										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						CCCGGCTGGGCCCCGCGCTCC	0.726000													18	89					0.000132079	0.00015072	1	1	0
FOLH1B	219595	broad.mit.edu	37	11	89424614	89424614	+	RNA	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:89424614G>A	ENST00000532352.1	+	0	1777							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTCTATTTCAGATTCACTTTT	0.323000													4	21					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126249501	126249501	+	Missense_Mutation	SNP	C	C	A	rs148874550		TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr7:126249501C>A	ENST00000339582.2	-	8	2217	c.1409G>T	c.(1408-1410)cGt>cTt	p.R470L	GRM8_ENST00000358373.3_Missense_Mutation_p.R470L|GRM8_ENST00000444921.2_Missense_Mutation_p.R470L|GRM8_ENST00000480995.1_Intron|GRM8_ENST00000405249.1_Missense_Mutation_p.V494F			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	470					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)	GATATCATAACGTCCAGGAGC	0.383000										HNSCC(24;0.065)			21	30					4.35082e-09	5.8511e-09	1	1	0
ARHGAP30	257106	broad.mit.edu	37	1	161026302	161026302	+	Missense_Mutation	SNP	C	C	T	rs143165869		TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:161026302C>T	ENST00000368013.3	-	3	541	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R74Q|ARHGAP30_ENST00000368015.1_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	74	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R74Q(1)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GTCTGGCTTCCGCTCTGACTC	0.592000													8	41					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220313113	220313113	+	Silent	SNP	G	G	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:220313113G>C	ENST00000312358.7	+	4	1365	c.1233G>C	c.(1231-1233)cgG>cgC	p.R411R	SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Silent_p.R307R|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	411					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGGAGCGACGGCGCAGCCTGG	0.751000													3	6					0	0	1	0	0
ETFB	2109	broad.mit.edu	37	19	51857475	51857475	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:51857475C>A	ENST00000354232.4	-	1	2885	c.418G>T	c.(418-420)Gct>Tct	p.A140S	ETFB_ENST00000309244.4_Missense_Mutation_p.A49S|CTD-2616J11.11_ENST00000600067.1_3'UTR	NM_001014763.1	NP_001014763.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	49					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		AGCCGCACAGCCTCCTCCACC	0.612000													19	60					0.000295444	0.000330319	1	1	0
TMPRSS11A	339967	broad.mit.edu	37	4	68810291	68810291	+	Silent	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:68810291G>A	ENST00000508048.1	-	3	230	c.195C>T	c.(193-195)ttC>ttT	p.F65F	TMPRSS11A_ENST00000396188.2_Silent_p.F66F|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000334830.7_Silent_p.F66F			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	66	SEA.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TGCTTTGTCCGAAATTGTTAT	0.333000													9	25					0	0	1	0	0
SERINC1	57515	broad.mit.edu	37	6	122768322	122768322	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr6:122768322C>T	ENST00000368454.1	-	10	1268	c.939G>A	c.(937-939)tgG>tgA	p.W313*	SERINC1_ENST00000339697.3_Nonsense_Mutation_p.W313*			Q9NRX5	SERC1_HUMAN	serine incorporator 1	313					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		CTTGAGCATGCCACCACTGGA	0.358000													9	66					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11022981	11022981	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr5:11022981G>T	ENST00000304623.8	-	17	3088	c.2899C>A	c.(2899-2901)Ctg>Atg	p.L967M	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.L630M|CTNND2_ENST00000359640.2_Missense_Mutation_p.L909M|CTNND2_ENST00000511377.1_Missense_Mutation_p.L876M|CTNND2_ENST00000458100.2_Missense_Mutation_p.L534M	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	967					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						ACTTCGTGCAGTGTGCAGCAG	0.532000													22	130					3.28513e-13	5.23567e-13	1	1	0
RADIL	55698	broad.mit.edu	37	7	4874742	4874742	+	Silent	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr7:4874742C>A	ENST00000399583.3	-	4	1099	c.912G>T	c.(910-912)ccG>ccT	p.P304P	RADIL_ENST00000536091.1_Silent_p.P304P|RADIL_ENST00000538469.1_Silent_p.P64P	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	304					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TGTCCGGGAGCGGTTGCCGGC	0.711000													10	22					3.86212e-05	4.50015e-05	1	1	0
SRD5A2	6716	broad.mit.edu	37	2	31805787	31805787	+	RNA	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:31805787C>T	ENST00000405650.1	-	0	349							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GCGGGCACCGCGAAGGAAGGC	0.687000													26	23					0	0	1	0	0
SYCE1	93426	broad.mit.edu	37	10	135372442	135372442	+	Silent	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr10:135372442G>T	ENST00000368517.3	-	4	240	c.102C>A	c.(100-102)gcC>gcA	p.A34A	SYCE1_ENST00000343131.5_Silent_p.A70A|SYCE1_ENST00000432597.2_Silent_p.A34A|SPRN_ENST00000541506.1_Intron	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	70					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GGTCTTTATTGGCTTTCTTTT	0.502000													9	38					2.27111e-07	2.90685e-07	1	1	0
CTNNA2	1496	broad.mit.edu	37	2	79971582	79971582	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:79971582C>A	ENST00000466387.1	+	7	896	c.172C>A	c.(172-174)Cat>Aat	p.H58N	CTNNA2_ENST00000496558.1_Missense_Mutation_p.H58N|CTNNA2_ENST00000541047.1_Missense_Mutation_p.H58N|CTNNA2_ENST00000540488.1_Missense_Mutation_p.H58N|CTNNA2_ENST00000361291.4_Missense_Mutation_p.H92N|CTNNA2_ENST00000402739.4_Missense_Mutation_p.H58N			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	58					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AAAGAAAGCCCATGTACTAGC	0.428000													11	25					0.00136819	0.00147738	1	1	0
SNAPC3	6619	broad.mit.edu	37	9	15453102	15453102	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr9:15453102G>T	ENST00000380821.3	+	7	1055	c.879G>T	c.(877-879)atG>atT	p.M293I	SNAPC3_ENST00000380799.1_Missense_Mutation_p.M90I	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	293					regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		CTGCTAGAATGGAAGATTTCA	0.393000													18	56					3.52763e-06	4.26015e-06	1	1	0
SERPINA3	12	broad.mit.edu	37	14	95081103	95081103	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr14:95081103G>C	ENST00000553947.1	+	5	1288	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	SERPINA3_ENST00000467132.1_Missense_Mutation_p.E109Q|SERPINA3_ENST00000393078.3_Missense_Mutation_p.E109Q|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393080.4_Missense_Mutation_p.E109Q			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	109					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.E109K(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CAACCTCACGGAGACTTCTGA	0.552000													11	83					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531308	140531308	+	Silent	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr5:140531308G>A	ENST00000231136.1	+	1	1470	c.1470G>A	c.(1468-1470)ccG>ccA	p.P490P	PCDHB6_ENST00000543635.1_Silent_p.P354P	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		490	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGCTGCCGCCCCAGGACC	0.657000													80	135					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7709409	7709409	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr5:7709409G>T	ENST00000338316.4	+	10	1576	c.1487G>T	c.(1486-1488)cGg>cTg	p.R496L	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.R316L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	496					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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CGCATGACCCGGTACTTGGAG	0.597000													76	46					4.01556e-35	8.37207e-35	1	1	0
MASP2	10747	broad.mit.edu	37	1	11087189	11087189	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:11087189G>A	ENST00000400897.3	-	11	1829	c.1814C>T	c.(1813-1815)cCa>cTa	p.P605L		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	605	Peptidase S1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-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)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		TGGATAGGGTGGCTTTTCATA	0.483000													77	93					0	0	1	0	0
MED15	51586	broad.mit.edu	37	22	20937129	20937129	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr22:20937129C>G	ENST00000263205.7	+	11	1481	c.1412C>G	c.(1411-1413)tCt>tGt	p.S471C	MED15_ENST00000382974.2_Missense_Mutation_p.S360C|MED15_ENST00000541476.1_Missense_Mutation_p.S405C|MED15_ENST00000406969.1_Missense_Mutation_p.S405C|MED15_ENST00000542773.1_Intron|MED15_ENST00000425759.2_Missense_Mutation_p.S320C|MED15_ENST00000292733.7_Missense_Mutation_p.S431C|MED15_ENST00000478831.1_3'UTR	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	471	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GGCTGCAGCTCTGGCCCTGCC	0.692000													12	202					0	0	1	0	0
ARG2	384	broad.mit.edu	37	14	68112498	68112498	+	Silent	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr14:68112498C>A	ENST00000261783.3	+	4	681	c.501C>A	c.(499-501)ctC>ctA	p.L167L	ARG2_ENST00000556491.1_Intron	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	167					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TTTCATTTCTCCTCAGAGAAC	0.468000													13	44					6.31663e-08	8.22775e-08	1	1	0
ZNF35	7584	broad.mit.edu	37	3	44700238	44700238	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr3:44700238T>C	ENST00000396056.2	+	4	618	c.383T>C	c.(382-384)aTa>aCa	p.I128T	ZNF35_ENST00000453164.1_Missense_Mutation_p.Y80H|ZNF35_ENST00000296092.3_Missense_Mutation_p.Y80H|ZNF35_ENST00000399560.2_Missense_Mutation_p.Y80H|ZNF35_ENST00000542250.1_5'UTR|RP11-944L7.4_ENST00000457331.1_RNA	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	128	Globular domain.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		AAAACTGAGATATGTGAGGAA	0.403000													14	27					0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762205	53762205	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:53762205C>T	ENST00000341702.3	+	1	661	c.577C>T	c.(577-579)Cct>Tct	p.P193S		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	193					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CACCATCAACCCTAGGAACTC	0.493000													7	27					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076660	9076660	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:9076660C>A	ENST00000397910.4	-	3	10989	c.10786G>T	c.(10786-10788)Gac>Tac	p.D3596Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3597	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						GAAGTCATGTCTGTGACAGTC	0.478000													13	57					7.03913e-09	9.37137e-09	1	1	0
CCSER1	401145	broad.mit.edu	37	4	91389391	91389391	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:91389391G>A	ENST00000509176.1	+	5	1898	c.1610G>A	c.(1609-1611)cGg>cAg	p.R537Q	CCSER1_ENST00000432775.2_Missense_Mutation_p.R537Q|CCSER1_ENST00000333691.8_Missense_Mutation_p.R537Q	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		ACAGTTTGCCGGGAGGACTCA	0.363000													4	11					0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107718855	107718855	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr8:107718855C>A	ENST00000445937.1	+	9	1367	c.1106C>A	c.(1105-1107)tCt>tAt	p.S369Y	OXR1_ENST00000312046.6_Missense_Mutation_p.S362Y|OXR1_ENST00000531443.1_Missense_Mutation_p.S369Y|OXR1_ENST00000517566.2_Missense_Mutation_p.S369Y|OXR1_ENST00000497705.1_Missense_Mutation_p.S302Y|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000442977.2_Missense_Mutation_p.S370Y	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	370					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TCATCAGAATCTGTGCAAACT	0.413000													12	109					4.3838e-07	5.52559e-07	1	1	0
RASL12	51285	broad.mit.edu	37	15	65360080	65360080	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr15:65360080C>A	ENST00000220062.4	-	1	370	c.94G>T	c.(94-96)Ggc>Tgc	p.G32C	RASL12_ENST00000421977.3_Missense_Mutation_p.G32C|RASL12_ENST00000434605.2_Intron	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	32					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						CCAGACTTGCCAGCCCCGCGG	0.716000													4	7					0.150653	0.153667	1	1	0
KCTD7	154881	broad.mit.edu	37	7	66103309	66103309	+	Silent	SNP	G	G	A	rs145238250	byFrequency	TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr7:66103309G>A	ENST00000275532.3	+	3	568	c.384G>A	c.(382-384)gaG>gaA	p.E128E	KCTD7_ENST00000443322.1_Silent_p.E128E	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	128	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TGTACAAAGAGGCCCAGTACT	0.587000													47	68					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128324356	128324356	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr5:128324356C>A	ENST00000262462.4	+	3	1759	c.749C>A	c.(748-750)gCt>gAt	p.A250D	SLC27A6_ENST00000506176.1_Missense_Mutation_p.A250D|SLC27A6_ENST00000395266.1_Missense_Mutation_p.A250D			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	250					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GTCCTGTGGGCTTTTGGTTGT	0.418000													30	46					3.1745e-13	5.07154e-13	1	1	0
ZBTB7C	201501	broad.mit.edu	37	18	45555813	45555813	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr18:45555813C>A	ENST00000588982.1	-	4	2179	c.1678G>T	c.(1678-1680)Ggg>Tgg	p.G560W	ZBTB7C_ENST00000590800.1_Missense_Mutation_p.G560W|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.G560W|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.G560W|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.G560W			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	560						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TGCGCGCGCCCGAACAGCTTC	0.721000													6	12					2.0095e-06	2.46722e-06	1	1	0
GABRB1	2560	broad.mit.edu	37	4	47427852	47427852	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:47427852C>A	ENST00000295454.3	+	9	1534	c.1242C>A	c.(1240-1242)taC>taA	p.Y414*	GABRB1_ENST00000538619.1_Nonsense_Mutation_p.Y344*	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	414					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GCGAGGCCTACGGGCGCGCCC	0.647000													11	89					0.000673444	0.000738006	1	1	0
OR51M1	390059	broad.mit.edu	37	11	5410825	5410825	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:5410825G>T	ENST00000328611.3	+	1	219	c.197G>T	c.(196-198)cGt>cTt	p.R66L	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	66						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCAACCCTCGTCTGCACACA	0.468000													19	43					2.35188e-11	3.56004e-11	1	1	0
COL15A1	1306	broad.mit.edu	37	9	101818651	101818651	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr9:101818651C>A	ENST00000375001.3	+	35	3725	c.3302C>A	c.(3301-3303)cCg>cAg	p.P1101Q		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1101	Triple-helical region 8 (COL8).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCGGGGCCCCCGGGGCCACCA	0.632000													27	64					7.38237e-10	1.03478e-09	1	1	0
OR6B2	389090	broad.mit.edu	37	2	240969736	240969736	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:240969736A>T	ENST00000402971.2	-	1	170	c.111T>A	c.(109-111)ttT>ttA	p.F37L		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CCACCAGGACAAAGAGGTAGG	0.577000													16	79					0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153417	5153417	+	Silent	SNP	G	G	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:5153417G>C	ENST00000307388.1	-	1	455	c.456C>G	c.(454-456)ctC>ctG	p.L152L		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGGCAGCCCTGAGTGTCACCC	0.473000													13	41					0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92909076	92909076	+	Silent	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr14:92909076G>A	ENST00000532405.1	+	6	724	c.498G>A	c.(496-498)ggG>ggA	p.G166G	SLC24A4_ENST00000298877.1_Silent_p.G149G|SLC24A4_ENST00000393265.2_Silent_p.G102G|SLC24A4_ENST00000531433.1_Silent_p.G166G|SLC24A4_ENST00000351924.5_Silent_p.G149G			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	166						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TCACCCATGGGGACGTCGGGG	0.597000													19	64					0	0	1	0	0
ZNF890P	645700	broad.mit.edu	37	7	5167350	5167350	+	RNA	SNP	C	C	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr7:5167350C>G	ENST00000422060.2	-	0	501					NR_034163.1																						AAGCCCACAGCCACGTCCCCG	0.567000													4	17					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756847	94756847	+	Silent	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr14:94756847C>T	ENST00000554723.1	-	2	622	c.204G>A	c.(202-204)tcG>tcA	p.S68S	SERPINA10_ENST00000261994.4_Silent_p.S28S|SERPINA10_ENST00000554173.1_Silent_p.S28S|SERPINA10_ENST00000393096.1_Silent_p.S28S			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	28					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGGTCTCTGGCGACTGAGGAC	0.642000													10	17					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	396429	396429	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr3:396429G>T	ENST00000256509.2	+	11	1782	c.1140G>T	c.(1138-1140)tgG>tgT	p.W380C	CHL1_ENST00000397491.2_Missense_Mutation_p.W364C	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	364	Ig-like C2-type 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAATCAAGTGGAGAGTCAATG	0.478000													10	49					0.000673444	0.000738006	1	1	0
GPR179	440435	broad.mit.edu	37	17	36483463	36483463	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr17:36483463C>T	ENST00000342292.4	-	11	6009	c.5989G>A	c.(5989-5991)Gtg>Atg	p.V1997M	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1997						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CATGGGCACACGTCAGCGGCC	0.567000													38	48					0	0	1	0	0
MT1A	4489	broad.mit.edu	37	16	56673786	56673786	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr16:56673786G>T	ENST00000290705.8	+	3	183	c.110G>T	c.(109-111)tGc>tTc	p.C37F		NM_005946.2	NP_005937.2	P04731	MT1A_HUMAN	metallothionein 1A	37	Alpha.					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)	3						TGCTCCTGCTGCCCCATGAGC	0.622000													53	120					9.22156e-22	1.75183e-21	1	1	0
MUC16	94025	broad.mit.edu	37	19	9067747	9067747	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:9067747C>A	ENST00000397910.4	-	3	19902	c.19699G>T	c.(19699-19701)Ggc>Tgc	p.G6567C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6569	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						GAGGTGCTGCCCAAGTTTGGA	0.473000													10	38					2.74318e-10	3.97971e-10	1	1	0
EVC2	132884	broad.mit.edu	37	4	5586496	5586496	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:5586496G>A	ENST00000310917.2	-	17	3402	c.2671C>T	c.(2671-2673)Cag>Tag	p.Q891*	EVC2_ENST00000344408.5_Nonsense_Mutation_p.Q971*|EVC2_ENST00000344938.1_Nonsense_Mutation_p.Q971*	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	971						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TTCTGGAACTGCAGAGCAACA	0.607000													23	45					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8626804	8626804	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr20:8626804C>T	ENST00000378641.3	+	5	915	c.440C>T	c.(439-441)tCc>tTc	p.S147F	PLCB1_ENST00000378637.2_Missense_Mutation_p.S147F|PLCB1_ENST00000338037.6_Missense_Mutation_p.S147F	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	147					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CAAAACATGTCCAGGGATGCA	0.408000													21	16					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882412	228882412	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:228882412G>A	ENST00000392056.3	-	7	3204	c.3158C>T	c.(3157-3159)tCt>tTt	p.S1053F	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1053F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1053						cytoplasm	protein binding	p.S1053F(2)		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)		GTCCACCATAGAGAACTCCGT	0.537000													44	108					0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237781	56237781	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:56237781A>T	ENST00000312240.2	-	1	233	c.193T>A	c.(193-195)Tca>Aca	p.S65T		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TCAACAAATGACAAGTGACTG	0.393000													24	56					0	0	1	0	0
TM6SF2	53345	broad.mit.edu	37	19	19377420	19377420	+	Splice_Site	SNP	T	T	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:19377420T>C	ENST00000389363.4	-	9	877		c.e9-2		AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2							integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			CATCAGCATCTGCAGGGGCGG	0.612000													8	20					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768476	57768476	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr20:57768476G>A	ENST00000371030.2	+	1	2402	c.2402G>A	c.(2401-2403)tGg>tAg	p.W801*		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	801						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACCTGCCTGTGGGCCCAGACT	0.627000													8	49					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15600156	15600156	+	Silent	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr10:15600156G>T	ENST00000378076.3	-	26	3036	c.2683C>A	c.(2683-2685)Cga>Aga	p.R895R		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	895					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.R895*(1)		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						GTAGAGTTTCGCAAAAAGGCG	0.473000													24	45					6.44725e-10	9.11413e-10	1	1	0
SIRPD	128646	broad.mit.edu	37	20	1517898	1517898	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr20:1517898G>T	ENST00000381623.3	-	3	1669	c.480C>A	c.(478-480)caC>caA	p.H160Q	SIRPD_ENST00000381621.1_Missense_Mutation_p.H161Q			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	160						extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						GGGCATCATGGTGGGCCCTGG	0.562000													22	61					5.35047e-06	6.41476e-06	1	1	0
SNX12	29934	broad.mit.edu	37	X	70282790	70282790	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:70282790G>A	ENST00000374274.3	-	2	291	c.175C>T	c.(175-177)Cct>Tct	p.P59S	SNX12_ENST00000465030.1_5'UTR|SNX12_ENST00000276105.3_Missense_Mutation_p.P55S	NM_001256185.1|NM_001256188.1|NM_013346.3	NP_001243114.1|NP_001243117.1|NP_037478.2	Q9UMY4	SNX12_HUMAN	sorting nexin 12	59	PX.				cell communication|protein transport	membrane	phosphatidylinositol binding|protein binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	Renal(35;0.156)					TTGAAGATAGGTAGGTTTGTC	0.458000													5	22					0	0	1	0	0
TMEM174	134288	broad.mit.edu	37	5	72469302	72469302	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr5:72469302C>A	ENST00000296776.5	+	1	281	c.232C>A	c.(232-234)Ctg>Atg	p.L78M	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	78						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		TGGGCCCGTCCTGCTGTCAGT	0.522000													23	53					6.44725e-10	9.11413e-10	1	1	0
CUL4B	8450	broad.mit.edu	37	X	119694153	119694153	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:119694153G>C	ENST00000371322.5	-	1	402	c.341C>G	c.(340-342)gCg>gGg	p.A114G	CUL4B_ENST00000404115.3_Missense_Mutation_p.A132G|CUL4B_ENST00000336592.6_Missense_Mutation_p.A119G	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	132	Ser-rich.				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGCCATCTTCGCATCAAACCC	0.488000													17	55					0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26688304	26688304	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:26688304C>A	ENST00000436292.1	-	7	1533	c.1413G>T	c.(1411-1413)tgG>tgT	p.W471C	ZNF683_ENST00000403843.1_Missense_Mutation_p.W471C|ZNF683_ENST00000374204.1_Missense_Mutation_p.W451C|ZNF683_ENST00000349618.3_Missense_Mutation_p.W451C			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	471					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)		CCCCCTGGTGCCATTGGGCAA	0.592000													15	147					2.32078e-09	3.16601e-09	1	1	0
STAU2	27067	broad.mit.edu	37	8	74529622	74529622	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr8:74529622C>A	ENST00000355780.5	-	6	597	c.379G>T	c.(379-381)Ggg>Tgg	p.G127W	STAU2_ENST00000517542.1_Missense_Mutation_p.G121W|STAU2_ENST00000524300.1_Missense_Mutation_p.G159W|STAU2_ENST00000522509.1_Missense_Mutation_p.G127W|STAU2_ENST00000521727.1_Missense_Mutation_p.G139W|STAU2_ENST00000521210.1_Missense_Mutation_p.G55W|STAU2_ENST00000519961.1_Missense_Mutation_p.G159W|STAU2_ENST00000521451.1_5'UTR|STAU2_ENST00000523558.1_5'UTR|STAU2_ENST00000522695.1_Missense_Mutation_p.G127W	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	159	DRBM 2.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TTTCCTTCCCCAAAAAATTCA	0.388000													47	30					1.39843e-22	2.70308e-22	1	1	0
DRP2	1821	broad.mit.edu	37	X	100503150	100503150	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:100503150T>G	ENST00000395209.3	+	13	1852	c.1325T>G	c.(1324-1326)aTg>aGg	p.M442R	DRP2_ENST00000541709.1_Missense_Mutation_p.M364R|DRP2_ENST00000538510.1_Missense_Mutation_p.M442R|DRP2_ENST00000402866.1_Missense_Mutation_p.M442R	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	442					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GAGCACGTGATGGATGTGGTA	0.488000													27	143					0	0	1	0	0
HTR1B	3351	broad.mit.edu	37	6	78172981	78172981	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr6:78172981G>T	ENST00000369947.2	-	1	509	c.140C>A	c.(139-141)cCc>cAc	p.P47H		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	47					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	TACTTTCCAGGGTAGGGAGAT	0.557000													59	85					1.38909e-20	2.60898e-20	1	1	0
PAH	5053	broad.mit.edu	37	12	103246599	103246599	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr12:103246599G>A	ENST00000553106.1	-	7	1308	c.836C>T	c.(835-837)cCc>cTc	p.P279L	PAH_ENST00000307000.2_Missense_Mutation_p.P274L	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	279					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	p.P279L(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TCACGGTTCGGGGGTATACAT	0.552000													7	85					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51955752	51955752	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:51955752G>A	ENST00000321424.3	-	7	1447	c.1381C>T	c.(1381-1383)Cag>Tag	p.Q461*	SIGLEC8_ENST00000430817.1_Nonsense_Mutation_p.Q352*|SIGLEC8_ENST00000340550.5_Nonsense_Mutation_p.Q368*	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	461					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCCTGTCCCTGCGGGTCCTGA	0.562000													27	79					0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54364994	54364994	+	Silent	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:54364994G>A	ENST00000306888.2	-	4	755	c.504C>T	c.(502-504)taC>taT	p.Y168Y	LNX1-AS1_ENST00000502373.1_RNA|LNX1_ENST00000263925.7_Silent_p.Y264Y|FIP1L1_ENST00000507166.1_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	264						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GAATCAGGTGGTACAACCTTG	0.458000													6	27					0	0	1	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66988974	66988974	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr8:66988974G>A	ENST00000276570.5	+	4	486	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	67	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding	p.A67T(2)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AATCAACAACGCCCACGCAAT	0.418000													17	220					0	0	1	0	0
CEMP1	752014	broad.mit.edu	37	16	2580777	2580777	+	Silent	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr16:2580777G>A	ENST00000382350.1	-	1	643	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L	AMDHD2_ENST00000565570.1_3'UTR|CEMP1_ENST00000567119.1_Silent_p.L100L|CEMP1_ENST00000565480.1_Intron|AMDHD2_ENST00000413459.3_3'UTR|AMDHD2_ENST00000302956.4_3'UTR			Q6PRD7	CEMP1_HUMAN	cementum protein 1	100						cytoplasm				lung(1)|skin(1)	2						GCCTGGGGCAGGGCACAAGGG	0.647000													7	25					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754485	49754485	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr6:49754485T>A	ENST00000304801.3	-	1	568	c.416A>T	c.(415-417)aAg>aTg	p.K139M		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	139					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AGCTTTAATCTTCTTTCCAGA	0.512000													23	89					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578500	7578500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr17:7578500G>A	ENST00000420246.2	-	5	562	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	TP53_ENST00000445888.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q144*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q144*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q144*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	144	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and 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.Q144*(36)|p.0?(8)|p.Q144fs*25(3)|p.Q144K(2)|p.Q12*(2)|p.Q144fs*26(2)|p.Q51*(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q51fs*25(1)|p.Q144del(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.Q12fs*25(1)|p.V143_S149del(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)		ACCCACAGCTGCACAGGGCAG	0.597000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			43	42					0	0	1	0	0
PAK4	10298	broad.mit.edu	37	19	39669179	39669179	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:39669179C>A	ENST00000599386.1	+	9	1458	c.1277C>A	c.(1276-1278)gCc>gAc	p.A426D	PAK4_ENST00000321944.4_Missense_Mutation_p.A489D|PAK4_ENST00000435673.2_Missense_Mutation_p.A579D|PAK4_ENST00000593690.1_Missense_Mutation_p.A579D|PAK4_ENST00000360442.3_Missense_Mutation_p.A579D|PAK4_ENST00000358301.3_Missense_Mutation_p.A579D|PAK4_ENST00000599470.1_Missense_Mutation_p.A426D	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	579	Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GGGCCGCCTGCCAGCATCGTG	0.706000													16	48					2.89027e-11	4.30617e-11	1	1	0
LRRK2	120892	broad.mit.edu	37	12	40704406	40704406	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr12:40704406G>T	ENST00000298910.7	+	31	4549	c.4491G>T	c.(4489-4491)ttG>ttT	p.L1497F		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1497	Roc.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTGATGCTTTGGCAAAACTTC	0.423000													35	90					1.26612e-14	2.13055e-14	1	1	0
APBA2	321	broad.mit.edu	37	15	29346381	29346381	+	Silent	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr15:29346381C>A	ENST00000558402.1	+	5	893	c.294C>A	c.(292-294)acC>acA	p.T98T	APBA2_ENST00000411764.1_Silent_p.T98T|APBA2_ENST00000561069.1_Silent_p.T98T|APBA2_ENST00000558330.1_Silent_p.T98T|APBA2_ENST00000558259.1_Silent_p.T98T			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	98					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGGGCATCACCTACTACATCC	0.607000													41	107					4.42602e-33	9.11321e-33	1	1	0
GALNTL6	442117	broad.mit.edu	37	4	173942755	173942755	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:173942755C>A	ENST00000506823.1	+	12	2274	c.1617C>A	c.(1615-1617)aaC>aaA	p.N539K	GALNTL6_ENST00000508122.1_Missense_Mutation_p.N522K	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	539	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TGAAGGGGAACCAGCTCTGGG	0.468000													29	70					1.75199e-13	2.84001e-13	1	1	0
C12orf56	115749	broad.mit.edu	37	12	64697554	64697554	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr12:64697554T>A	ENST00000543942.2	-	6	1600	c.974A>T	c.(973-975)gAg>gTg	p.E325V	RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Missense_Mutation_p.E165V	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	328										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		AATTTTCTCCTCAGACCTACA	0.308000													5	0					0	0	1	0	0
ARMCX3	51566	broad.mit.edu	37	X	100880495	100880495	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:100880495G>C	ENST00000341189.4	+	5	1392	c.526G>C	c.(526-528)Gat>Cat	p.D176H	ARMCX3_ENST00000471229.2_Missense_Mutation_p.D176H|ARMCX3_ENST00000537169.1_Missense_Mutation_p.D176H	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	176						integral to membrane	binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						CAATACTCGGGATCCCATAGT	0.388000													20	49					0	0	1	0	0
SERPINB6	5269	broad.mit.edu	37	6	2959554	2959554	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr6:2959554C>A	ENST00000380520.1	-	1	2007	c.13G>T	c.(13-15)Gca>Tca	p.A5S	SERPINB6_ENST00000380524.1_Missense_Mutation_p.A5S|SERPINB6_ENST00000335686.5_Missense_Mutation_p.A5S|SERPINB6_ENST00000380546.3_Missense_Mutation_p.A5S|SERPINB6_ENST00000380529.1_Missense_Mutation_p.A5S|SERPINB6_ENST00000380539.1_Missense_Mutation_p.A5S			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	5					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	TTTGCTTCTGCGAGAACATCC	0.468000													36	96					1.67305e-13	2.7187e-13	1	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125298849	125298849	+	Silent	SNP	C	C	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chrX:125298849C>G	ENST00000538699.1	-	2	1139	c.1059G>C	c.(1057-1059)gtG>gtC	p.V353V	DCAF12L2_ENST00000360028.2_Silent_p.V353V	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	353										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						TCAGCGACCGCACGCCTGTGC	0.632000													13	113					0	0	1	0	0
UMOD	7369	broad.mit.edu	37	16	20360470	20360470	+	Silent	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr16:20360470G>T	ENST00000396134.2	-	4	375	c.252C>A	c.(250-252)acC>acA	p.T84T	UMOD_ENST00000424589.1_Silent_p.T84T|UMOD_ENST00000570689.1_Silent_p.T51T|UMOD_ENST00000396142.2_Silent_p.T51T|UMOD_ENST00000302509.4_Silent_p.T51T|UMOD_ENST00000396138.4_Silent_p.T100T	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	51	EGF-like 2; calcium-binding (Potential).				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CCTCCTGACAGGTGCACGTCG	0.597000													6	29					2.0095e-06	2.46722e-06	1	1	0
MAGEL2	54551	broad.mit.edu	37	15	23890799	23890799	+	Silent	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr15:23890799G>T	ENST00000532292.1	-	1	376	c.282C>A	c.(280-282)ccC>ccA	p.P94P		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CCGGGGGTCCGGGCTGGGCCT	0.652000													5	4					0.0215528	0.0221199	1	1	0
KLK2	3817	broad.mit.edu	37	19	51379961	51379961	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:51379961C>G	ENST00000325321.3	+	3	665	c.440C>G	c.(439-441)gCa>gGa	p.A147G	KLK2_ENST00000358049.4_Missense_Mutation_p.A147G|KLK2_ENST00000391810.2_Missense_Mutation_p.A45G			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	147	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		CAGGAGCCAGCACTGGGGACC	0.627000			T	ETV4	prostate								12	37					0	0	1	0	0
SCD5	79966	broad.mit.edu	37	4	83719624	83719624	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr4:83719624C>A	ENST00000319540.4	-	1	386	c.67G>T	c.(67-69)Ggg>Tgg	p.G23W	SCD5_ENST00000282709.4_Missense_Mutation_p.G23W|SCD5_ENST00000273908.4_Missense_Mutation_p.G23W	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	23					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CTTTCGAGCCCGGCACGGATT	0.701000													11	30					0.00136819	0.00147738	1	1	0
PKD1	5310	broad.mit.edu	37	16	2160517	2160517	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr16:2160517G>C	ENST00000262304.4	-	15	4859	c.4651C>G	c.(4651-4653)Ctc>Gtc	p.L1551V	PKD1_ENST00000423118.1_Missense_Mutation_p.L1551V	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1551	PKD 10.|PKD 11.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTGACGACGAGCCCCCGCACG	0.647000													22	91					0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9765354	9765354	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr17:9765354G>T	ENST00000262441.5	+	9	1516	c.1003G>T	c.(1003-1005)Ggg>Tgg	p.G335W	GLP2R_ENST00000574745.1_Missense_Mutation_p.G155W	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	335					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GACAACAAATGGGAATAAGAA	0.468000													35	45					2.40579e-17	4.23088e-17	1	1	0
HHIPL2	79802	broad.mit.edu	37	1	222717495	222717495	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr1:222717495delC	ENST00000343410.6	-	2	416	c.358delG	c.(358-360)aafs	p.E120fs		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	120					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TGGGTGTTTTCGGCGTCGTAG	0.567													7	365	---	---	---	---					
SFTPB	6439	broad.mit.edu	37	2	85893858	85893877	+	Splice_Site	DEL	ATCGTGTCCTGGGAGGCCAG	ATCGTGTCCTGGGAGGCCAG	-	rs45478492	byFrequency	TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:85893858_85893877delATCGTGTCCTGGGAGGCCAG	ENST00000393822.3	-	5	403_410	c.303_splice	c.e5-1	p.102_splice	SFTPB_ENST00000519937.2_Splice_Site_p.90_splice|SFTPB_ENST00000409383.1_Splice_Site_p.102_splice|SFTPB_ENST00000342375.3_Splice_Site_p.90_splice			P07988	PSPB_HUMAN	surfactant protein B	90	Saposin B-type 1.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		p.T91M(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						GAACTTCCTCATCGTGTCCTGGGAGGCCAGAGGGGGCCGT	0.632													9	186	---	---	---	---					
ANKRD20A8P	729171	broad.mit.edu	37	2	95513688	95513689	+	RNA	INS	-	-	TA			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:95513688_95513689insTA	ENST00000432432.2	-	0	850					NR_040113.1																						CTCACCTAATGTATAAGATGGA	0.327													7	80	---	---	---	---					
CPS1	1373	broad.mit.edu	37	2	211542620	211542620	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr2:211542620delC	ENST00000233072.5	+	38	4610	c.4414delC	c.(4414-4416)ttfs	p.L1472fs	CPS1_ENST00000451903.2_Frame_Shift_Del_p.L1021fs|CPS1_ENST00000430249.2_Frame_Shift_Del_p.L1478fs	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1472					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GGTGACCAAACTTTTTGCTGA	0.423													60	182	---	---	---	---					
SRGAP3	9901	broad.mit.edu	37	3	9101984	9101985	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr3:9101984_9101985insA	ENST00000383836.3	-	6	1158_1159	c.731_732insT	c.(730-732)tctfs	p.S244fs	SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.S244fs|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	244					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCAGATTGAGCAAGTAGTCATT	0.480			T	RAF1	pilocytic astrocytoma								44	74	---	---	---	---					
EYA4	2070	broad.mit.edu	37	6	133834078	133834079	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr6:133834078_133834079insA	ENST00000367895.5	+	16	1867_1868	c.1403_1404insA	c.(1402-1404)cacfs	p.H468fs	RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000452339.2_Frame_Shift_Ins_p.H414fs|EYA4_ENST00000431403.2_Frame_Shift_Ins_p.H468fs|EYA4_ENST00000430974.2_Frame_Shift_Ins_p.H420fs|EYA4_ENST00000531901.1_Frame_Shift_Ins_p.H474fs|EYA4_ENST00000355167.3_Frame_Shift_Ins_p.H468fs|EYA4_ENST00000355286.6_Frame_Shift_Ins_p.H445fs|EYA4_ENST00000525849.1_Frame_Shift_Ins_p.H445fs	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	468					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CTTTGTTTGCCAACAGGTGTAA	0.391													7	33	---	---	---	---					
THBS2	7058	broad.mit.edu	37	6	169625328	169625328	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr6:169625328delG	ENST00000366787.3	-	18	2934	c.2685delC	c.(2683-2685)gcfs	p.A895fs	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	895					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		cagggtcacaggcgtcgccct	0.597													14	32	---	---	---	---					
STAG3L4	64940	broad.mit.edu	37	7	66767610	66767611	+	RNA	INS	-	-	G	rs71293166	by1000genomes	TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr7:66767610_66767611insG	ENST00000416602.2	+	0	3_4					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				CACCGGACTGCTTTTTTTTTTT	0.545													3	6	---	---	---	---					
TMEM130	222865	broad.mit.edu	37	7	98445842	98445843	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr7:98445842_98445843insT	ENST00000416379.2	-	8	1148_1149	c.1144_1145insA	c.(1144-1146)gtcfs	p.V382fs	TMEM130_ENST00000546258.1_Intron|TMEM130_ENST00000339375.4_Intron|TMEM130_ENST00000450876.1_Intron|TMEM130_ENST00000345589.4_Intron			Q8N3G9	TM130_HUMAN	transmembrane protein 130	382						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTTGTCAGACATGGGGGAAAAG	0.550													24	33	---	---	---	---					
LRRCC1	85444	broad.mit.edu	37	8	86027714	86027715	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr8:86027714_86027715delTG	ENST00000414626.2	+	5	1654_1655	c.765_766delTG	c.(763-768)tctgfs	p.SV255fs	LRRCC1_ENST00000360375.3_Frame_Shift_Del_p.SV275fs			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	275					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CTTTTATGTCTGTGTGTCAATC	0.366													64	45	---	---	---	---					
FAM154A	158297	broad.mit.edu	37	9	19032872	19032873	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr9:19032872_19032873insA	ENST00000380534.4	-	1	313_314	c.34_35insT	c.(34-36)cggfs	p.R12fs	FAM154A_ENST00000380530.1_Frame_Shift_Ins_p.R12fs|FAM154A_ENST00000583128.1_5'UTR|FAM154A_ENST00000542071.1_5'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	12										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		ACCTTACCCGCAGGAGCACAGT	0.634													12	37	---	---	---	---					
MAMDC4	158056	broad.mit.edu	37	9	139749473	139749474	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr9:139749473_139749474insC	ENST00000445819.1	+	10	1158_1159	c.1108_1109insC	c.(1108-1110)cccfs	p.P370fs	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Frame_Shift_Ins_p.P370fs			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	370	MAM 2.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		cgccccccgggcccccgTCCTG	0.678													7	38	---	---	---	---					
DNHD1	144132	broad.mit.edu	37	11	6588303	6588303	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:6588303delG	ENST00000254579.6	+	36	12128	c.11564delG	c.(11563-11565)tgfs	p.W3855fs	DNHD1_ENST00000527990.2_Frame_Shift_Del_p.W3855fs	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3855					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTGTGGTTTGGCATGGAATG	0.527													23	60	---	---	---	---					
OR10A4	283297	broad.mit.edu	37	11	6898390	6898391	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr11:6898390_6898391insC	ENST00000379829.2	+	1	535_536	c.512_513insC	c.(511-513)gccfs	p.A171fs		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCTTTTTGTGGCCCCAACAGGG	0.535													28	70	---	---	---	---					
ACACB	32	broad.mit.edu	37	12	109637279	109637280	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr12:109637279_109637280insT	ENST00000338432.7	+	18	2819_2820	c.2700_2701insT	c.(2698-2703)cccggcfs	p.G901fs	ACACB_ENST00000377848.3_Frame_Shift_Ins_p.G901fs|ACACB_ENST00000377854.5_Frame_Shift_Ins_p.G901fs			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	901	Biotinyl-binding.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGAGATCCCCCTCGGCTGGGAA	0.584													41	111	---	---	---	---					
OR4K17	390436	broad.mit.edu	37	14	20586042	20586042	+	Frame_Shift_Del	DEL	G	G	-	rs8005245	byFrequency	TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr14:20586042delG	ENST00000315543.4	+	1	477	c.477delG	c.(475-477)aafs	p.K159fs		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CCATTTGTAAGCCCCTACACT	0.458													18	53	---	---	---	---					
OR4N4	283694	broad.mit.edu	37	15	22382920	22382921	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr15:22382920_22382921insT	ENST00000328795.4	+	1	539_540	c.448_449insT	c.(448-450)tggfs	p.W150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GGCTCTGTGGCTTGGGGGTTTT	0.535													23	152	---	---	---	---					
NLRP11	204801	broad.mit.edu	37	19	56321541	56321542	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr19:56321541_56321542insT	ENST00000443188.1	-	5	1144_1145	c.434_435insA	c.(433-435)aaafs	p.K145fs	NLRP11_ENST00000589093.1_Frame_Shift_Ins_p.K145fs|NLRP11_ENST00000592953.1_Frame_Shift_Ins_p.K46fs|NLRP11_ENST00000360133.3_Frame_Shift_Ins_p.K145fs|NLRP11_ENST00000589824.2_Frame_Shift_Ins_p.K145fs	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	145							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CATTGAGATTGTTTGCTGAATA	0.371													9	14	---	---	---	---					
ZNF334	55713	broad.mit.edu	37	20	45133315	45133315	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8616-01A-11D-2393-08	TCGA-55-8616-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e52261ac-814e-421d-9b55-f4b86d4eee89	88d79c6b-2425-4f5e-aba1-83425f2961f1	g.chr20:45133315delG	ENST00000593880.1	-	2	396	c.102delC	c.(100-102)ccfs	p.P34fs	ZNF334_ENST00000457685.2_5'UTR|ZNF334_ENST00000347606.4_Frame_Shift_Del_p.P29fs			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	0	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)				CCTCTGAGCAGGGTCCAGTTG	0.468													21	80	---	---	---	---					
