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
CAMTA1	23261	broad.mit.edu	37	1	7724491	7724491	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:7724491G>A	ENST00000303635.7	+	9	2091	c.1884G>A	c.(1882-1884)gaG>gaA	p.E628E	CAMTA1_ENST00000439411.2_Silent_p.E628E	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	628					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCCCCGTCGAGCAGAACACCC	0.652000			T	WWTR1	epitheliod hemangioendothelioma								4	219					0	0	0.021553	0	0
CXorf48	54967	broad.mit.edu	37	X	134305034	134305034	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chrX:134305034C>T	ENST00000344129.2	-	1	288	c.62G>A	c.(61-63)cGa>cAa	p.R21Q	CXorf48_ENST00000276241.6_Missense_Mutation_p.R21Q	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN	chromosome X open reading frame 48	21										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					TGGGCCCTGTCGCTCTGCAGG	0.642000													19	55					0	0	0.016522	0	0
DUOXA1	90527	broad.mit.edu	37	15	45410265	45410265	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr15:45410265G>A	ENST00000267803.4	-	10	1393	c.994C>T	c.(994-996)Cgc>Tgc	p.R332C	DUOXA1_ENST00000430224.2_Missense_Mutation_p.R287C|DUOXA2_ENST00000323030.5_3'UTR|DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000559014.1_Missense_Mutation_p.R332C	NM_144565.2	NP_653166.2	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	0					protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		CTCCTGGGGCGATCTGTAAAT	0.552000											OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	22					0	0	0.009096	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													5	158					0	0	0.014758	0	0
ZNF496	84838	broad.mit.edu	37	1	247473644	247473644	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:247473644C>T	ENST00000294753.4	-	6	1230	c.766G>A	c.(766-768)Ggg>Agg	p.G256R	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.G292R	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	256	KRAB.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			ATTGAGACCCCGTAATCCTCC	0.493000													15	49					0	0	0.028581	0	0
GSKIP	51527	broad.mit.edu	37	14	96851943	96851943	+	Silent	SNP	C	C	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr14:96851943C>G	ENST00000556095.1	+	4	2154	c.342C>G	c.(340-342)ctC>ctG	p.L114L	GSKIP_ENST00000438650.1_Silent_p.L114L|GSKIP_ENST00000554182.1_Silent_p.L114L|GSKIP_ENST00000555181.1_Silent_p.L114L	NM_001271904.1	NP_001258833.1			GSK3B interacting protein																		TGGATACACTCAGCCCCGCCT	0.448000													29	56					0	0	0.012213	0	0
DNAAF1	123872	broad.mit.edu	37	16	84188262	84188262	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr16:84188262G>A	ENST00000378553.5	+	4	557	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	DNAAF1_ENST00000334315.5_Missense_Mutation_p.E145K	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	145					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						ACAGAAAATCGAAAACCTGGA	0.473000													11	44					0	0	0.008291	0	0
STX1A	6804	broad.mit.edu	37	7	73117214	73117214	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr7:73117214G>A	ENST00000222812.3	-	8	665	c.639C>T	c.(637-639)caC>caT	p.H213H	STX1A_ENST00000395155.3_Silent_p.H213H|WBSCR22_ENST00000423166.2_Intron|STX1A_ENST00000395154.3_Silent_p.H213H|STX1A_ENST00000395156.3_Silent_p.H213H	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	213	t-SNARE coiled-coil homology.				energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGAACATGTCGTGTAGCTCAC	0.592000													23	48					0	0	0.018920	0	0
HRNR	388697	broad.mit.edu	37	1	152190959	152190959	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:152190959C>G	ENST00000368801.2	-	3	3221	c.3146G>C	c.(3145-3147)gGc>gCc	p.G1049A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1049					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGACCTAAGCCAGAAGAGTG	0.562000													50	223					0	0	0.014410	0	0
USP35	57558	broad.mit.edu	37	11	77911847	77911847	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:77911847C>T	ENST00000529308.1	+	6	1451	c.1190C>T	c.(1189-1191)gCc>gTc	p.A397V	USP35_ENST00000530267.1_Intron|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Missense_Mutation_p.A128V|USP35_ENST00000441408.2_5'UTR	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	397					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GTCATGGAGGCCATCAAGGTG	0.622000													9	62					0	0	0.006214	0	0
DNAJC10	54431	broad.mit.edu	37	2	183616459	183616459	+	Nonsense_Mutation	SNP	C	C	T	rs75109237		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:183616459C>T	ENST00000264065.6	+	15	1796	c.1381C>T	c.(1381-1383)Caa>Taa	p.Q461*		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	461	Thioredoxin 2.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GCTTGGACCTCAAAATTTTCC	0.368000													40	165					0	0	0.030466	0	0
SMG8	55181	broad.mit.edu	37	17	57288727	57288727	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:57288727C>T	ENST00000543872.2	+	2	1579	c.1315C>T	c.(1315-1317)Cat>Tat	p.H439Y	SMG8_ENST00000580498.1_Intron|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.H439Y|SMG8_ENST00000578922.1_Missense_Mutation_p.H439Y			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	439					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	p.H439Y(1)		NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						ACAGCCTTCCCATTTTGAACT	0.478000													16	38					0	0	0.028581	0	0
SOS2	6655	broad.mit.edu	37	14	50585274	50585274	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr14:50585274G>C	ENST00000216373.5	-	23	4061	c.3787C>G	c.(3787-3789)Cct>Gct	p.P1263A	SOS2_ENST00000543680.1_Missense_Mutation_p.P1230A	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1263					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GGTGTGCTAGGAGGAGTGCTT	0.517000													11	45					0	0	0.008291	0	0
FCGR3B	2215	broad.mit.edu	37	1	161596179	161596179	+	Silent	SNP	G	G	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:161596179G>C	ENST00000294800.3	-	4	606	c.333C>G	c.(331-333)ctC>ctG	p.L111L	FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Silent_p.L111L|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR3B_ENST00000531221.1_Silent_p.L147L	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	111					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAGGGGCCTGGAGCAACAGCC	0.562000													4	27					0	0	0.021553	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736077	140736077	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr5:140736077A>T	ENST00000571252.1	+	1	1310	c.1310A>T	c.(1309-1311)cAt>cTt	p.H437L	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGAAACTCATATTTCACTG	0.468000													21	33					0	0	0.010504	0	0
CACNA1G	8913	broad.mit.edu	37	17	48685319	48685319	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:48685319G>A	ENST00000352832.5	+	24	4947	c.4575G>A	c.(4573-4575)gaG>gaA	p.E1525E	CACNA1G_ENST00000510115.1_Silent_p.E1525E|CACNA1G_ENST00000513689.2_Silent_p.E1514E|CACNA1G_ENST00000510366.1_Silent_p.E1514E|CACNA1G_ENST00000514079.1_Silent_p.E1548E|CACNA1G_ENST00000507336.1_Silent_p.E1548E|CACNA1G_ENST00000442258.2_Silent_p.E1525E|CACNA1G_ENST00000505165.1_Silent_p.E1548E|CACNA1G_ENST00000354983.4_Silent_p.E1525E|CACNA1G_ENST00000515765.1_Silent_p.E1548E|CACNA1G_ENST00000429973.2_Silent_p.E1548E|CACNA1G_ENST00000515411.1_Silent_p.E1548E|CACNA1G_ENST00000514717.1_Silent_p.E1491E|CACNA1G_ENST00000514181.1_Silent_p.E1548E|CACNA1G_ENST00000360761.4_Silent_p.E1525E|CACNA1G_ENST00000502264.1_Silent_p.E1525E|CACNA1G_ENST00000513964.1_Silent_p.E1514E|CACNA1G_ENST00000358244.5_Silent_p.E1525E|CACNA1G_ENST00000515165.1_Silent_p.E1548E|CACNA1G_ENST00000503485.1_Silent_p.E1514E|CACNA1G_ENST00000507609.1_Silent_p.E1548E|CACNA1G_ENST00000359106.5_Silent_p.E1548E|CACNA1G_ENST00000507896.1_Silent_p.E1548E|CACNA1G_ENST00000507510.2_Silent_p.E1548E|CACNA1G_ENST00000512389.1_Silent_p.E1548E	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1548					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGCACCAGGAGGAAGAGGAGG	0.547000													8	32					0	0	0.038147	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	31					0	0	0.004672	0	0
FBXW10	10517	broad.mit.edu	37	17	18659468	18659468	+	Splice_Site	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:18659468G>A	ENST00000308799.4	+	5	1538		c.e5+1		FBXW10_ENST00000395667.1_Splice_Site|FBXW10_ENST00000301938.4_Splice_Site|FBXW10_ENST00000395665.4_Splice_Site			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10											NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCTCTGACACGTAGGTACTGG	0.493000													9	29					0	0	0.004482	0	0
TP53	7157	broad.mit.edu	37	17	7574021	7574021	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:7574021C>A	ENST00000269305.4	-	10	1195	c.1006G>T	c.(1006-1008)Gag>Tag	p.E336*	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.E336*|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	336	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.				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.0?(8)|p.E336*(5)|p.I332fs*5(1)|p.E336fs*12(1)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCGAAGCGCTCACGCCCACGG	0.517000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			5	35					0.00198382	0.00212011	0.029380	1	0
ASB10	136371	broad.mit.edu	37	7	150878272	150878272	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr7:150878272G>A	ENST00000422024.1	-	3	1118	c.993C>T	c.(991-993)gaC>gaT	p.D331D	ASB10_ENST00000434669.1_Silent_p.D331D|ASB10_ENST00000377867.3_Silent_p.D271D|ASB10_ENST00000275838.1_Silent_p.D286D|ASB10_ENST00000420175.2_Silent_p.D286D	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	286					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGCATCAGCGTCTGCTCCAG	0.672000													5	23					0	0	0.021553	0	0
AP2A1	160	broad.mit.edu	37	19	50309485	50309485	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:50309485G>A	ENST00000354293.5	+	22	2931	c.2765G>A	c.(2764-2766)cGg>cAg	p.R922Q	AP2A1_ENST00000359032.5_Missense_Mutation_p.R944Q	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	944					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TGTCTGCTTCGGCTGGAGCCC	0.637000													6	11					0	0	0.029380	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412327	139412327	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr9:139412327A>G	ENST00000277541.6	-	8	1393	c.1318T>C	c.(1318-1320)Tgt>Cgt	p.C440R		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	440	EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCCTGCAGACACTGGCACTCG	0.657000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			9	29					0	0	0.008291	0	0
ZNF365	22891	broad.mit.edu	37	10	64416233	64416233	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr10:64416233C>T	ENST00000410046.3	+	6	1487	c.1207C>T	c.(1207-1209)Cag>Tag	p.Q403*	ZNF365_ENST00000395249.1_Intron|ZNF365_ENST00000395251.1_Nonsense_Mutation_p.Q157*	NM_199451.2	NP_955523.1	Q70YC4	TALAN_HUMAN	zinc finger protein 365	157										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					cttaggactccaggactttga	0.443000													9	28					0	0	0.006214	0	0
OLFML1	283298	broad.mit.edu	37	11	7530749	7530749	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:7530749G>C	ENST00000329293.3	+	3	933	c.539G>C	c.(538-540)gGa>gCa	p.G180A	OLFML1_ENST00000528758.1_3'UTR|OLFML1_ENST00000530135.1_Missense_Mutation_p.G180A|CTD-2516F10.2_ENST00000530201.1_RNA	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	180	Olfactomedin-like.					extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TTATTAATTGGATCCAGAAAC	0.423000													9	58					0	0	0.004482	0	0
AURKB	9212	broad.mit.edu	37	17	8110609	8110609	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:8110609G>A	ENST00000316199.6	-	5	363	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	AURKB_ENST00000534871.1_Missense_Mutation_p.R54W|AURKB_ENST00000585124.1_Missense_Mutation_p.R95W|AURKB_ENST00000578549.1_Intron|AURKB_ENST00000535053.1_Missense_Mutation_p.R96W			Q96GD4	AURKB_HUMAN	aurora kinase B	95	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|lung(2)	4						TTCTTCTCCCGAGCCAAGTAC	0.517000													13	30					0	0	0.016723	0	0
FOXI1	2299	broad.mit.edu	37	5	169535116	169535116	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr5:169535116G>A	ENST00000306268.6	+	2	699	c.638G>A	c.(637-639)cGc>cAc	p.R213H	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	213					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAAATTTCCGCAGGAAAAGG	0.493000									Pendred syndrome				19	34					0	0	0.008871	0	0
MUC17	140453	broad.mit.edu	37	7	100684621	100684621	+	Silent	SNP	C	C	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr7:100684621C>A	ENST00000306151.4	+	3	9988	c.9924C>A	c.(9922-9924)acC>acA	p.T3308T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3308	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)					CTGCTGACACCAGCACACCTG	0.498000													164	408					1.33315e-76	1.55534e-76	0.014410	1	0
ZNF707	286075	broad.mit.edu	37	8	144776477	144776477	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr8:144776477G>A	ENST00000532205.1	+	8	1792	c.893G>A	c.(892-894)cGg>cAg	p.R298Q	ZNF707_ENST00000532158.1_Missense_Mutation_p.R298Q|ZNF707_ENST00000358656.4_Missense_Mutation_p.R298Q|ZNF707_ENST00000418203.2_Missense_Mutation_p.R298Q|ZNF707_ENST00000454097.1_Missense_Mutation_p.R298Q			Q96C28	ZN707_HUMAN	zinc finger protein 707	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAAGCCTTCCGGACCAAGGAG	0.632000													5	24					0	0	0.029380	0	0
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1			nuclear pore complex interacting protein family, member A5									p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562000													3	78					0	0	0.009096	0	0
RBM7	10179	broad.mit.edu	37	11	114271421	114271421	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:114271421C>G	ENST00000541475.1	+	1	93	c.28C>G	c.(28-30)Cgc>Ggc	p.R10G	RBM7_ENST00000544582.1_Missense_Mutation_p.R10G|RP11-212D19.4_ENST00000544347.1_Missense_Mutation_p.I6M|RBM7_ENST00000540163.1_Missense_Mutation_p.R10G|RBM7_ENST00000375490.5_Missense_Mutation_p.R10G|RBM7_ENST00000545678.1_5'UTR			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	10	RRM.				meiosis		nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		GGAAGCGGATCGCACTCTCTT	0.627000													29	119					0	0	0.017118	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													4	79					0	0	0.009096	0	0
HIST1H2BJ	8970	broad.mit.edu	37	6	27100329	27100329	+	Silent	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr6:27100329C>T	ENST00000607124.1	-	1	200	c.201G>A	c.(199-201)gtG>gtA	p.V67V	HIST1H2BJ_ENST00000339812.2_Silent_p.V67V|HIST1H2BJ_ENST00000541790.1_Silent_p.V67V			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	67					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						AAATGTCGTTCACAAACGAAT	0.562000													55	161					0	0	0.014410	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034681	52034681	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:52034681G>A	ENST00000346477.3	-	2	228	c.160C>T	c.(160-162)Ccc>Tcc	p.P54S	SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P54S|SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P54S|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P54S|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.P54S	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	54	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGGGTAGTGGGCAATCTGCAG	0.597000													13	54					0	0	0.020292	0	0
TTC27	55622	broad.mit.edu	37	2	33007733	33007733	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:33007733G>A	ENST00000317907.4	+	15	2051	c.1820G>A	c.(1819-1821)cGa>cAa	p.R607Q		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	607							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TCCTATATCCGATTAAAACAA	0.294000													14	43					0	0	0.016723	0	0
MUC16	94025	broad.mit.edu	37	19	9060890	9060890	+	Silent	SNP	A	A	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:9060890A>G	ENST00000397910.4	-	3	26759	c.26556T>C	c.(26554-26556)ccT>ccC	p.P8852P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8854	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGAAGATGGAGGGCTAGTTT	0.522000													26	113					0	0	0.030593	0	0
FGA	2243	broad.mit.edu	37	4	155507529	155507529	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr4:155507529C>A	ENST00000302053.3	-	5	1130	c.1052G>T	c.(1051-1053)aGc>aTc	p.S351I	FGA_ENST00000403106.3_Missense_Mutation_p.S351I	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	351					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)	AGGTCTAGGGCTCCCAGGGTT	0.557000													35	59					1.836e-18	2.10689e-18	0.017118	1	0
DNAJC1	64215	broad.mit.edu	37	10	22048519	22048519	+	Silent	SNP	C	C	T	rs148336959		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr10:22048519C>T	ENST00000376980.3	-	11	1466	c.1176G>A	c.(1174-1176)tcG>tcA	p.S392S	DNAJC1_ENST00000483085.1_5'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	392					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)				TCTGAACTGTCGATTTGAGTT	0.562000													14	30					0	0	0.024245	0	0
GOT1	2805	broad.mit.edu	37	10	101165514	101165514	+	Splice_Site	SNP	T	T	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr10:101165514T>G	ENST00000370508.5	-	5	668	c.642_splice	c.e5+1	p.K214_splice	GOT1_ENST00000543866.1_Splice_Site_p.K193_splice	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	214					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGCAGTTACCTTCATGACAGA	0.438000													5	56					0	0	0.014758	0	0
ANKRD33	341405	broad.mit.edu	37	12	52282464	52282464	+	Silent	SNP	C	C	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr12:52282464C>A	ENST00000301190.6	+	2	485	c.258C>A	c.(256-258)ggC>ggA	p.G86G	ANKRD33_ENST00000340970.4_5'UTR|ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000547119.1_3'UTR	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	0										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CCTGCCCGGGCAAGGAGACCC	0.617000													13	78					0.000151284	0.000162922	0.016723	1	0
SOS2	6655	broad.mit.edu	37	14	50626720	50626720	+	Silent	SNP	G	G	A	rs8010578		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr14:50626720G>A	ENST00000216373.5	-	10	1555	c.1281C>T	c.(1279-1281)atC>atT	p.I427I	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Silent_p.I394I	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	427					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CCCATCCATCGATATTTTTCT	0.358000													32	57					0	0	0.041601	0	0
RSF1	51773	broad.mit.edu	37	11	77378520	77378520	+	Silent	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:77378520C>T	ENST00000308488.6	-	16	4070	c.3768G>A	c.(3766-3768)aaG>aaA	p.K1256K	RSF1_ENST00000360355.2_Silent_p.K1225K|RSF1_ENST00000480887.1_Silent_p.K1004K			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1256					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTTCAGAGTTCTTGGACAAAT	0.448000													7	131					0	0	0.004482	0	0
WNT9A	7483	broad.mit.edu	37	1	228111988	228111988	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:228111988C>T	ENST00000272164.5	-	3	476	c.466G>A	c.(466-468)Gac>Aac	p.D156N	WNT9A_ENST00000497852.1_5'UTR	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	156					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TTCTCCAGGTCGGGTGCCTCA	0.632000													29	89					0	0	0.030593	0	0
TSSK6	83983	broad.mit.edu	37	19	19625929	19625929	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:19625929C>T	ENST00000360913.3	-	1	909	c.308G>A	c.(307-309)cGc>cAc	p.R103H	TSSK6_ENST00000585580.3_Missense_Mutation_p.R103H			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	103	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GCGCCCGTTGCGCTGCACGGC	0.652000													17	53					0	0	0.038395	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													6	49					0	0	0.029380	0	0
PRKX	5613	broad.mit.edu	37	X	3573309	3573309	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chrX:3573309G>A	ENST00000262848.5	-	3	834	c.480C>T	c.(478-480)atC>atT	p.I160I	PRKX_ENST00000425240.1_5'UTR	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	160	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				GCAGGTACTCGATGGCACAGA	0.577000													35	49					0	0	0.017118	0	0
SLC25A20	788	broad.mit.edu	37	3	48921543	48921543	+	Silent	SNP	T	T	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr3:48921543T>C	ENST00000319017.4	-	3	411	c.213A>G	c.(211-213)ctA>ctG	p.L71L	SLC25A20_ENST00000430379.1_Intron|SLC25A20_ENST00000544097.1_Silent_p.L21L	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	71					carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	TTCCCCGATATAGCCCCGTGA	0.498000													30	54					0	0	0.013726	0	0
DAB2	1601	broad.mit.edu	37	5	39381673	39381673	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr5:39381673C>T	ENST00000320816.6	-	11	1854	c.1387G>A	c.(1387-1389)Gtc>Atc	p.V463I	DAB2_ENST00000509337.1_Missense_Mutation_p.V442I|DAB2_ENST00000339788.6_Missense_Mutation_p.V245I|DAB2_ENST00000545653.1_Missense_Mutation_p.V442I	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	463					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GGTTCTGAGACGGGAGGAGCA	0.542000													46	132					0	0	0.014410	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													4	68					0	0	0.009096	0	0
CDH19	28513	broad.mit.edu	37	18	64176256	64176256	+	Missense_Mutation	SNP	G	G	A	rs150398178	byFrequency	TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr18:64176256G>A	ENST00000262150.2	-	11	2096	c.1804C>T	c.(1804-1806)Ctc>Ttc	p.L602F	CDH19_ENST00000540086.1_Intron	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	602					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ATGCAAATGAGAATAGCAATG	0.418000													17	58					0	0	0.033300	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6107634	6107634	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr4:6107634G>A	ENST00000409021.3	-	3	639	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R64W|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R64W	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	64	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCCGTGTGCCGTCGCTGCTCC	0.672000													15	45					0	0	0.020292	0	0
CSAG4	100130935	broad.mit.edu	37	X	151896274	151896274	+	RNA	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chrX:151896274G>A	ENST00000361201.4	-	0	456					NR_073432.1															endometrium(2)|kidney(2)|lung(1)	5						TTGAAGCGGCGGTCTTTTAGG	0.502000													76	63					0	0	0.014410	0	0
MYH4	4622	broad.mit.edu	37	17	10364306	10364306	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:10364306G>A	ENST00000255381.2	-	12	1184	c.1074C>T	c.(1072-1074)gcC>gcT	p.A358A	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	358	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AATGCATCACGGCTCCAGTGA	0.483000													40	123					0	0	0.027894	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195018	18195018	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:18195018A>G	ENST00000314254.3	+	1	635	c.215A>G	c.(214-216)gAc>gGc	p.D72G	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	72						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GCCGCAGCAGACTTCCTCTTC	0.532000													15	76					0	0	0.020292	0	0
COL11A1	1301	broad.mit.edu	37	1	103444279	103444279	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:103444279G>A	ENST00000358392.2	-	35	3092	c.2775C>T	c.(2773-2775)ggC>ggT	p.G925G	COL11A1_ENST00000512756.1_Silent_p.G797G|COL11A1_ENST00000353414.4_Silent_p.G874G|COL11A1_ENST00000370096.3_Silent_p.G913G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	913	Triple-helical region.		Missing (in STL2; overlapping phenotype with Marshall syndrome).		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)		CACCTGGAGGGCCAGGAGGGC	0.383000													24	158					0	0	0.041601	0	0
OFCC1	266553	broad.mit.edu	37	6	9939556	9939556	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr6:9939556C>G	ENST00000316020.6	-	2	181	c.182G>C	c.(181-183)tGc>tCc	p.C61S	OFCC1_ENST00000472329.1_5'UTR					orofacial cleft 1 candidate 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				TTGCCCTTGGCAATGCACAGA	0.383000													19	92					0	0	0.012319	0	0
HEPHL1	341208	broad.mit.edu	37	11	93803697	93803697	+	Silent	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:93803697C>T	ENST00000315765.9	+	6	1229	c.1221C>T	c.(1219-1221)aaC>aaT	p.N407N		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	407	Plastocyanin-like 3.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTCCTCTAAACGCCTCTGGCA	0.433000													5	31					0	0	0.021553	0	0
BLOC1S2	282991	broad.mit.edu	37	10	102045960	102045960	+	Silent	SNP	G	G	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr10:102045960G>C	ENST00000370372.2	-	2	118	c.66C>G	c.(64-66)gcC>gcG	p.A22A	BLOC1S2_ENST00000361832.2_5'UTR|BLOC1S2_ENST00000441611.1_5'UTR	NM_173809.4	NP_776170.2	Q6QNY1	BL1S2_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 2	22					melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis	BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus	gamma-tubulin binding|identical protein binding|protein C-terminus binding			large_intestine(1)|lung(2)|ovary(1)	4		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		CTGTCTCCACGGCGGCATCGT	0.572000													8	39					0	0	0.038147	0	0
PDE8B	8622	broad.mit.edu	37	5	76645253	76645253	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr5:76645253C>T	ENST00000264917.5	+	8	931	c.886C>T	c.(886-888)Cca>Tca	p.P296S	PDE8B_ENST00000333194.4_Missense_Mutation_p.P296S|PDE8B_ENST00000340978.3_Intron|PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000342343.4_Missense_Mutation_p.P276S	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	296	PAS.				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GTATGTCAACCCAGCCTTCGA	0.507000													37	23					0	0	0.025465	0	0
CSMD1	64478	broad.mit.edu	37	8	2876011	2876011	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr8:2876011T>A	ENST00000602557.1	-	53	8575	c.8020A>T	c.(8020-8022)Act>Tct	p.T2674S	CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2673S|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000520002.1_Missense_Mutation_p.T2674S|CSMD1_ENST00000602723.1_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2674	Sushi 17.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGACATCGAGTTTCGCTGCCG	0.458000													109	88					0	0	0.014410	0	0
GTPBP4	23560	broad.mit.edu	37	10	1046661	1046661	+	Silent	SNP	G	G	A	rs138136568		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr10:1046661G>A	ENST00000360803.4	+	7	781	c.699G>A	c.(697-699)agG>agA	p.R233R	GTPBP4_ENST00000545048.1_Silent_p.R186R|GTPBP4_ENST00000538293.1_Silent_p.R117R|GTPBP4_ENST00000491635.1_3'UTR	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	233					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TGGAGGATAGGAACACCATCG	0.567000													7	24					0	0	0.029380	0	0
FAT3	120114	broad.mit.edu	37	11	92600371	92600371	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:92600371G>A	ENST00000298047.6	+	21	12140	c.12123G>A	c.(12121-12123)tcG>tcA	p.S4041S	FAT3_ENST00000533797.1_Silent_p.S376S|FAT3_ENST00000409404.2_Silent_p.S4041S|FAT3_ENST00000525166.1_Silent_p.S3891S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4041	EGF-like 2.				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)				GCCTGCCATCGGGGGGTGAGT	0.667000										TCGA Ovarian(4;0.039)			3	14					0	0	0.004672	0	0
ITGB4	3691	broad.mit.edu	37	17	73748588	73748588	+	Silent	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:73748588C>T	ENST00000200181.3	+	32	4225	c.4038C>T	c.(4036-4038)ttC>ttT	p.F1346F	ITGB4_ENST00000579662.1_Silent_p.F1346F|ITGB4_ENST00000339591.3_Silent_p.F1346F|ITGB4_ENST00000450894.3_Silent_p.F1346F|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000449880.2_Silent_p.F1346F	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1346					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACGACAGCTTCCTTATGTACA	0.627000													15	79					0	0	0.024245	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070116	141070116	+	RNA	SNP	G	G	A	rs142836124	by1000genomes	TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr9:141070116G>A	ENST00000503395.1	+	0	1196																		p.R77H(1)									GACTCTGTGCGCTCGGGGCCC	0.687000													4	64					0	0	0.009096	0	0
CTPS2	56474	broad.mit.edu	37	X	16635319	16635319	+	Silent	SNP	T	T	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chrX:16635319T>C	ENST00000443824.1	-	16	2243	c.1500A>G	c.(1498-1500)gtA>gtG	p.V500V	CTPS2_ENST00000359276.4_Silent_p.V500V|CTPS2_ENST00000380241.3_Silent_p.V500V	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	500	Glutamine amidotransferase type-1.				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					CATCCTGACCTACAAAACTTA	0.398000													3	114					0	0	0.014758	0	0
DEFB124	245937	broad.mit.edu	37	20	30053437	30053437	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr20:30053437C>T	ENST00000317676.2	-	2	87	c.88G>A	c.(88-90)Ggt>Agt	p.G30S		NM_001037500.1	NP_001032589.1	Q8NES8	DB124_HUMAN	defensin, beta 124	30					defense response to bacterium	extracellular region						Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GCCCCTTGACCCTTCCAGCAC	0.522000													39	141					0	0	0.039052	0	0
GLRX2	51022	broad.mit.edu	37	1	193070317	193070317	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:193070317G>A	ENST00000367440.3	-	2	615	c.140C>T	c.(139-141)tCa>tTa	p.S47L	GLRX2_ENST00000367439.3_Missense_Mutation_p.S46L|GLRX2_ENST00000472197.1_5'UTR	NM_001243399.1|NM_016066.4	NP_001230328.1|NP_057150.2	Q9NS18	GLRX2_HUMAN	glutaredoxin 2	46					apoptosis|cell differentiation|cell redox homeostasis|DNA protection|electron transport chain|glutathione metabolic process|protein thiol-disulfide exchange|regulation of signal transduction|regulation of transcription, DNA-dependent|response to hydrogen peroxide|response to organic substance|response to redox state|response to temperature stimulus|transport	mitochondrion|nucleus	2 iron, 2 sulfur cluster binding|arsenate reductase (glutaredoxin) activity|electron carrier activity|glutathione disulfide oxidoreductase activity|metal ion binding|protein disulfide oxidoreductase activity			breast(1)|large_intestine(1)|lung(3)	5					Glutathione(DB00143)	CAAAGATGATGATGTATTGCT	0.343000													15	47					0	0	0.024245	0	0
CACNG8	59283	broad.mit.edu	37	19	54466508	54466508	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:54466508G>A	ENST00000270458.2	+	1	215	c.112G>A	c.(112-114)Gcc>Acc	p.A38T		NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	38					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CATGACCATCGCCATCAGCAC	0.697000													6	16					0	0	0.021553	0	0
EFHC1	114327	broad.mit.edu	37	6	52334164	52334164	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr6:52334164G>A	ENST00000371068.5	+	7	1274	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	EFHC1_ENST00000538167.1_Missense_Mutation_p.E372K|EFHC1_ENST00000433625.2_Missense_Mutation_p.E300K	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	391						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TGGACTAGTGGAAGATTCTGC	0.378000													25	90					0	0	0.021523	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28338153	28338153	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr21:28338153G>A	ENST00000284987.5	-	1	679	c.558C>T	c.(556-558)tcC>tcT	p.S186S		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	186					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GGATCCGTGCGGACCCATCCC	0.697000													5	19					0	0	0.014758	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73148992	73148992	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr4:73148992G>A	ENST00000286657.4	-	22	3515	c.3479C>T	c.(3478-3480)tCa>tTa	p.S1160L		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1160					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGTGAAGCTGAACTGAGGTG	0.498000													8	145					0	0	0.004482	0	0
ARSF	416	broad.mit.edu	37	X	2998964	2998964	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chrX:2998964C>T	ENST00000381127.1	+	5	537	c.316C>T	c.(316-318)Caa>Taa	p.Q106*	ARSF_ENST00000359361.2_Nonsense_Mutation_p.Q106*|ARSF_ENST00000537104.1_Nonsense_Mutation_p.Q106*	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	106						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACGTGTCATCCAAAATCTTGC	0.438000													21	12					0	0	0.014323	0	0
CCP110	9738	broad.mit.edu	37	16	19553369	19553369	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr16:19553369C>G	ENST00000396212.2	+	7	2646	c.2210C>G	c.(2209-2211)tCa>tGa	p.S737*	CCP110_ENST00000396208.2_Nonsense_Mutation_p.S737*|CCP110_ENST00000381396.5_Nonsense_Mutation_p.S737*	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	737					centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CTCCATACTTCAAATTCAAAT	0.338000													23	59					0	0	0.016522	0	0
NLRP3	114548	broad.mit.edu	37	1	247587539	247587539	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:247587539G>T	ENST00000366497.2	+	4	1574	c.794G>T	c.(793-795)aGc>aTc	p.S265I	NLRP3_ENST00000336119.3_Missense_Mutation_p.S265I|NLRP3_ENST00000391828.3_Missense_Mutation_p.S265I|NLRP3_ENST00000366496.2_Missense_Mutation_p.S265I|NLRP3_ENST00000348069.2_Missense_Mutation_p.S265I|NLRP3_ENST00000391827.2_Missense_Mutation_p.S265I|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	265	NACHT.				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)			CGAGAGGTGAGCCTTGTGACA	0.537000													12	50					0.0135373	0.0142498	0.013537	1	0
MYH13	8735	broad.mit.edu	37	17	10248886	10248886	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:10248886C>T	ENST00000418404.3	-	13	1474	c.1311G>A	c.(1309-1311)atG>atA	p.M437I	MYH13_ENST00000570743.1_Missense_Mutation_p.M437I|MYH13_ENST00000252172.4_Missense_Mutation_p.M437I			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	437	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCACAGGAACATCTTCTCGT	0.522000													33	115					0	0	0.021022	0	0
DENND3	22898	broad.mit.edu	37	8	142146792	142146792	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr8:142146792G>A	ENST00000519811.1	+	2	357	c.287G>A	c.(286-288)tGg>tAg	p.W96*	DENND3_ENST00000518347.1_Nonsense_Mutation_p.W96*|DENND3_ENST00000424248.1_Nonsense_Mutation_p.W16*|DENND3_ENST00000262585.2_Nonsense_Mutation_p.W16*			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	16										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGAGCAGTGGAAGGGCCTC	0.647000													3	30					0	0	0.004672	0	0
BCOR	54880	broad.mit.edu	37	X	39934150	39934150	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chrX:39934150T>C	ENST00000342274.4	-	4	811	c.449A>G	c.(448-450)aAa>aGa	p.K150R	BCOR_ENST00000397354.3_Missense_Mutation_p.K150R|BCOR_ENST00000378455.4_Missense_Mutation_p.K150R|BCOR_ENST00000378444.4_Missense_Mutation_p.K150R	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	150					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						AGGCGGTGTTTTGTATATAGC	0.507000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						27	33					0	0	0.041601	0	0
GLI2	2736	broad.mit.edu	37	2	121746950	121746950	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:121746950G>A	ENST00000452319.1	+	14	3520	c.3460G>A	c.(3460-3462)Gta>Ata	p.V1154I	GLI2_ENST00000361492.4_Missense_Mutation_p.V1154I|GLI2_ENST00000314490.11_Intron			P10070	GLI2_HUMAN	GLI family zinc finger 2	1154					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CTCCGGCACCGTAGACGCCCT	0.622000													4	30					0	0	0.009096	0	0
KIF2B	84643	broad.mit.edu	37	17	51902045	51902045	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:51902045C>A	ENST00000268919.4	+	1	1807	c.1651C>A	c.(1651-1653)Cat>Aat	p.H551N		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	551					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAGGCCCTACCATCGTGGCCA	0.398000													17	38					5.3912e-06	5.85092e-06	0.038395	1	0
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and 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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CGGTTCATGCCGCCCATGCAG	0.577000	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			29	56					0	0	0.012213	0	0
PPP2R1B	5519	broad.mit.edu	37	11	111630634	111630634	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:111630634C>G	ENST00000527614.1	-	5	646	c.581G>C	c.(580-582)cGa>cCa	p.R194P	PPP2R1B_ENST00000426998.2_Missense_Mutation_p.R130P|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.R194P|PPP2R1B_ENST00000393055.2_Intron|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.R33P|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.R194P	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	194							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		AGCAGCACGTCGTACCATTGG	0.413000													8	58					0	0	0.038147	0	0
MKRN1	23608	broad.mit.edu	37	7	140159671	140159671	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr7:140159671G>C	ENST00000255977.2	-	3	604	c.380C>G	c.(379-381)tCc>tGc	p.S127C	MKRN1_ENST00000474576.1_Missense_Mutation_p.S63C|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000443720.2_Missense_Mutation_p.S127C|MKRN1_ENST00000480552.1_Intron	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	127							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					AGCAGCAAGGGATGACTTTGT	0.403000													28	71					0	0	0.041601	0	0
GABRG1	2565	broad.mit.edu	37	4	46099293	46099293	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr4:46099293G>T	ENST00000295452.4	-	2	345	c.178C>A	c.(178-180)Cat>Aat	p.H60N		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	60					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TCTCCTTCATGAATTTTTGGG	0.368000													16	133					3.52763e-06	3.85835e-06	0.033300	1	0
NLRP7	199713	broad.mit.edu	37	19	55450945	55450945	+	Silent	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:55450945C>T	ENST00000446217.1	-	6	1728	c.1326G>A	c.(1324-1326)acG>acA	p.T442T	NLRP7_ENST00000328092.5_Silent_p.T414T|NLRP7_ENST00000592784.1_Silent_p.T414T|NLRP7_ENST00000590030.1_Silent_p.T414T|NLRP7_ENST00000588756.1_Silent_p.T414T|NLRP7_ENST00000448121.2_Silent_p.T414T|NLRP7_ENST00000340844.2_Silent_p.T414T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	414	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GGAGGCTCAGCGTCCGCAGCG	0.711000													5	31					0	0	0.014758	0	0
HEATR3	55027	broad.mit.edu	37	16	50138923	50138923	+	Missense_Mutation	SNP	G	G	A	rs137897639		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr16:50138923G>A	ENST00000299192.7	+	15	2185	c.1994G>A	c.(1993-1995)cGa>cAa	p.R665Q	HEATR3_ENST00000285767.4_Missense_Mutation_p.R579Q|RP11-429P3.5_ENST00000566770.1_RNA	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	665							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						ATGAATTTGCGAAGATTTATT	0.333000													37	64					0	0	0.030466	0	0
PPP1R32	220004	broad.mit.edu	37	11	61249785	61249785	+	Missense_Mutation	SNP	C	C	T	rs34626255		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:61249785C>T	ENST00000338608.2	+	3	237	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	RP11-286N22.8_ENST00000543044.1_3'UTR|RP11-286N22.8_ENST00000544880.1_Intron|PPP1R32_ENST00000432063.2_Missense_Mutation_p.R38W	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN	protein phosphatase 1, regulatory subunit 32	38																	TCTGGCAGGTCGGGAGGATTT	0.612000											OREG0021002	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	66					0	0	0.008291	0	0
BMS1	9790	broad.mit.edu	37	10	43318651	43318651	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr10:43318651A>G	ENST00000374518.4	+	20	3281	c.3218A>G	c.(3217-3219)aAa>aGa	p.K1073R		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1073					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CAGATCAAGAAAGCACTCCGA	0.498000													3	88					0	0	0.004672	0	0
MAP7D2	256714	broad.mit.edu	37	X	20082895	20082895	+	Silent	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chrX:20082895C>T	ENST00000379651.3	-	2	177	c.159G>A	c.(157-159)gaG>gaA	p.E53E	MAP7D2_ENST00000443379.3_Silent_p.E53E|MAP7D2_ENST00000379643.5_Silent_p.E53E|MAP7D2_ENST00000452324.3_Silent_p.E9E	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	53										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						ATCTCTGCCTCTCATCTGATT	0.408000													8	20					0	0	0.004482	0	0
ZNF274	10782	broad.mit.edu	37	19	58723899	58723899	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:58723899G>A	ENST00000326804.4	+	9	1808	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000424679.2_Missense_Mutation_p.R345H|ZNF274_ENST00000345813.3_Missense_Mutation_p.R418H	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	451					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		AAACGATTGCGCAAACGTGAC	0.428000													5	123					0	0	0.014758	0	0
PIDD	55367	broad.mit.edu	37	11	803327	803327	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:803327G>A	ENST00000347755.5	-	3	697	c.556C>T	c.(556-558)Ctg>Ttg	p.L186L	PIDD_ENST00000411829.2_Silent_p.L186L	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	186					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										GCTGGGGGCAGCGTCTGCAGG	0.642000													20	48					0	0	0.012319	0	0
DST	667	broad.mit.edu	37	6	56334934	56334934	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr6:56334934C>T	ENST00000370754.5	-	96	22374	c.22375G>A	c.(22375-22377)Gaa>Aaa	p.E7459K	DST_ENST00000421834.2_Missense_Mutation_p.E5166K|DST_ENST00000446842.2_Missense_Mutation_p.E6955K|DST_ENST00000370788.2_Missense_Mutation_p.E5084K|DST_ENST00000370769.4_Missense_Mutation_p.E7281K|DST_ENST00000361203.3_Missense_Mutation_p.E7170K|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.E4867K			Q03001	DYST_HUMAN	dystonin	7279					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACCTCATCTTCGATTTTGTCG	0.378000													9	35					0	0	0.004482	0	0
LILRA1	11024	broad.mit.edu	37	19	55106777	55106777	+	Missense_Mutation	SNP	C	C	T	rs141328341		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:55106777C>T	ENST00000453777.1	+	5	741	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.R191C|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	191	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GAGCCCGAGTCGCAGGTGGTC	0.567000													60	159					0	0	0.014410	0	0
WDR7	23335	broad.mit.edu	37	18	54424102	54424102	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr18:54424102G>C	ENST00000254442.3	+	15	2489	c.2278G>C	c.(2278-2280)Gat>Cat	p.D760H	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.D760H	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	760										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		ACACCTCCTTGATGATGAAGA	0.423000													7	25					0	0	0.029380	0	0
THADA	63892	broad.mit.edu	37	2	43804258	43804258	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:43804258T>G	ENST00000403856.1	-	11	1087	c.940A>C	c.(940-942)Aca>Cca	p.T314P	THADA_ENST00000415080.2_Missense_Mutation_p.T24P|THADA_ENST00000405975.2_Missense_Mutation_p.T314P|THADA_ENST00000405006.4_Missense_Mutation_p.T314P|THADA_ENST00000402360.2_Missense_Mutation_p.T314P|THADA_ENST00000330266.7_Missense_Mutation_p.T24P|THADA_ENST00000404790.1_Missense_Mutation_p.T314P			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	314							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ATGGCAAGTGTCCCCTGACAG	0.542000											OREG0014580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	13					0	0	0.014758	0	0
NANS	54187	broad.mit.edu	37	9	100843365	100843365	+	Splice_Site	SNP	G	G	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr9:100843365G>T	ENST00000210444.5	+	5	940		c.e5+1		NANS_ENST00000461452.1_Splice_Site|TRIM14_ENST00000375098.3_Intron|TRIM14_ENST00000478530.1_5'UTR	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase						lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				CAATGAGAAGGTGTGTCCTGC	0.622000													13	31					1.36491e-13	1.5287e-13	0.016723	1	0
DACH1	1602	broad.mit.edu	37	13	72063173	72063173	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr13:72063173G>A	ENST00000305425.4	-	7	2106	c.1684C>T	c.(1684-1686)Cct>Tct	p.P562S	DACH1_ENST00000359684.2_Missense_Mutation_p.P614S|DACH1_ENST00000313174.7_Missense_Mutation_p.P414S|DACH1_ENST00000354591.4_Missense_Mutation_p.P360S	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	612					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGTCCATCAGGAAACAGAAAA	0.463000													23	280					0	0	0.021523	0	0
RBM47	54502	broad.mit.edu	37	4	40440734	40440734	+	Silent	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr4:40440734C>T	ENST00000319592.4	-	4	886	c.177G>A	c.(175-177)ccG>ccA	p.P59P	RBM47_ENST00000381793.2_Silent_p.P59P|RBM47_ENST00000381795.6_Silent_p.P59P|RBM47_ENST00000295971.7_Silent_p.P59P|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Silent_p.P21P			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	59						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCCAGCCGGGCGGTGGGCCGC	0.711000													3	11					0	0	0.009096	0	0
RYR2	6262	broad.mit.edu	37	1	237670089	237670089	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:237670089T>C	ENST00000366574.2	+	23	3010	c.2693T>C	c.(2692-2694)aTt>aCt	p.I898T	RYR2_ENST00000360064.6_Missense_Mutation_p.I896T|RYR2_ENST00000542537.1_Missense_Mutation_p.I882T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	898	4 X approximate repeats.				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)			ATGAATAAAATTGAGCTTGGC	0.333000													7	34					0	0	0.006214	0	0
SCUBE2	57758	broad.mit.edu	37	11	9096045	9096045	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:9096045C>T	ENST00000457346.2	-	4	574	c.500G>A	c.(499-501)tGc>tAc	p.C167Y	SCUBE2_ENST00000309263.3_Missense_Mutation_p.C167Y|SCUBE2_ENST00000450649.2_Missense_Mutation_p.C167Y|SCUBE2_ENST00000520467.1_Missense_Mutation_p.C167Y			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	167	EGF-like 3; calcium-binding (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GCGGTGAATGCAGGTGTGCTG	0.572000													4	109					0	0	0.009096	0	0
MAP2	4133	broad.mit.edu	37	2	210560329	210560329	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:210560329G>A	ENST00000360351.4	+	7	3941	c.3435G>A	c.(3433-3435)ttG>ttA	p.L1145L	MAP2_ENST00000447185.1_Silent_p.L1141L|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1145					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TGGAGTCCTTGAAAGCTGATG	0.483000													7	44					0	0	0.038147	0	0
ZBTB4	57659	broad.mit.edu	37	17	7370078	7370078	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:7370078C>T	ENST00000311403.4	-	3	382	c.43G>A	c.(43-45)Gcc>Acc	p.A15T	ZBTB4_ENST00000380599.4_Missense_Mutation_p.A15T	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CGCAGGACGGCGGGGGCATGG	0.657000													5	9					0	0	0.014758	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21795884	21795884	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr14:21795884C>A	ENST00000206660.6	+	17	2813	c.2813C>A	c.(2812-2814)cCa>cAa	p.P938Q	RPGRIP1_ENST00000307974.4_Missense_Mutation_p.P297Q|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.P595Q|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.P938Q|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.P264Q|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.P900Q			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	938					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TTCCTGAAACCAGAAGCTCAG	0.473000													10	39					7.48243e-07	8.24835e-07	0.006214	1	0
TRIM5	85363	broad.mit.edu	37	11	5699528	5699528	+	Missense_Mutation	SNP	G	G	C	rs140632799		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:5699528G>C	ENST00000305836.5	-	4	952	c.650C>G	c.(649-651)tCt>tGt	p.S217C	TRIM5_ENST00000396853.4_Missense_Mutation_p.S217C|TRIM5_ENST00000396855.3_Missense_Mutation_p.S217C|TRIM5_ENST00000380034.3_Missense_Mutation_p.S217C|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000380027.1_Missense_Mutation_p.S217C|TRIM5_ENST00000396847.3_Missense_Mutation_p.S217C			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	217					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)		CTCAGTTTCAGAGTTCGTAAG	0.512000													19	79					0	0	0.043863	0	0
CCDC138	165055	broad.mit.edu	37	2	109408186	109408186	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:109408186G>A	ENST00000295124.4	+	4	382	c.322G>A	c.(322-324)Gag>Aag	p.E108K	CCDC138_ENST00000412964.2_Missense_Mutation_p.E108K|CCDC138_ENST00000470608.1_3'UTR	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	108										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						AACAGAAGAAGAGTTAATTGA	0.269000													36	139					0	0	0.023175	0	0
WDR88	126248	broad.mit.edu	37	19	33647373	33647373	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:33647373C>T	ENST00000361680.2	+	7	1000	c.922C>T	c.(922-924)Cga>Tga	p.R308*	WDR88_ENST00000355868.3_Nonsense_Mutation_p.R308*			Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	308										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					AGGGGAGTTTCGAAACTGTGG	0.463000													24	68					0	0	0.014323	0	0
SLC12A5	57468	broad.mit.edu	37	20	44680470	44680470	+	Missense_Mutation	SNP	C	C	T	rs149667115		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr20:44680470C>T	ENST00000454036.1	+	18	2483	c.2407C>T	c.(2407-2409)Cgc>Tgc	p.R803C	SLC12A5_ENST00000243964.3_Missense_Mutation_p.R780C	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	803					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.R780C(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCGCAACTGGCGCCAGAAGGA	0.622000													45	92					0	0	0.045515	0	0
ZNF761	388561	broad.mit.edu	37	19	53959369	53959369	+	RNA	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:53959369C>T	ENST00000454407.1	+	0	2061							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GGAAGTCATCCCTTACCTGCC	0.443000													21	82					0	0	0.014323	0	0
ITGA2B	3674	broad.mit.edu	37	17	42452040	42452040	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:42452040C>A	ENST00000262407.5	-	28	2961	c.2930G>T	c.(2929-2931)cGa>cTa	p.R977L	ITGA2B_ENST00000353281.4_Intron	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	977					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	AGCTTCCCCTCGGGGCAGGCT	0.632000													12	43					2.61681e-11	2.90757e-11	0.020292	1	0
LRRC8A	56262	broad.mit.edu	37	9	131670491	131670491	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr9:131670491A>C	ENST00000259324.5	+	3	1571	c.1048A>C	c.(1048-1050)Aag>Cag	p.K350Q	LRRC8A_ENST00000372600.4_Missense_Mutation_p.K350Q|LRRC8A_ENST00000372599.3_Missense_Mutation_p.K350Q	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	350					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CTCCCTCAAGAAGTACTCGTT	0.522000													6	38					0	0	0.021553	0	0
CTC1	80169	broad.mit.edu	37	17	8139420	8139420	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:8139420C>A	ENST00000315684.8	-	6	1040	c.1033G>T	c.(1033-1035)Gat>Tat	p.D345Y		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	345					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						CTTTCTGGATCCTTCTTGTCC	0.537000													15	116					0.0242445	0.0253301	0.024245	1	0
FAT1	2195	broad.mit.edu	37	4	187542861	187542861	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr4:187542861G>A	ENST00000441802.2	-	10	5088	c.4879C>T	c.(4879-4881)Cga>Tga	p.R1627*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1627	Cadherin 14.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGGTTACTTCGATCTAATTCT	0.368000										HNSCC(5;0.00058)			10	18					0	0	0.013537	0	0
ERBB3	2065	broad.mit.edu	37	12	56494868	56494868	+	Silent	SNP	T	T	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr12:56494868T>C	ENST00000267101.3	+	27	3665	c.3225T>C	c.(3223-3225)agT>agC	p.S1075S	ERBB3_ENST00000415288.2_Silent_p.S1016S|ERBB3_ENST00000549832.1_Silent_p.S195S|ERBB3_ENST00000450146.2_Silent_p.S432S|ERBB3_ENST00000553131.1_Silent_p.S316S	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1075					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTGGGAGCAGTGAACGGTGCC	0.483000													6	34					0	0	0.004482	0	0
STAT3	6774	broad.mit.edu	37	17	40485969	40485969	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:40485969A>G	ENST00000264657.5	-	9	1208	c.896T>C	c.(895-897)gTa>gCa	p.V299A	STAT3_ENST00000389272.3_Missense_Mutation_p.V201A|STAT3_ENST00000588969.1_Missense_Mutation_p.V299A|STAT3_ENST00000585517.1_Missense_Mutation_p.V299A|STAT3_ENST00000404395.3_Missense_Mutation_p.V299A	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	299					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CCGGTGCTGTACAATGGGGTC	0.428000									Hyperimmunoglobulin E Recurrent Infection Syndrome				18	53					0	0	0.038395	0	0
USP35	57558	broad.mit.edu	37	11	77921356	77921356	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:77921356C>T	ENST00000529308.1	+	10	2716	c.2455C>T	c.(2455-2457)Cgg>Tgg	p.R819W	USP35_ENST00000530267.1_Missense_Mutation_p.R387W|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.R550W|USP35_ENST00000441408.2_Missense_Mutation_p.R405W	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	819					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GCGCACCATGCGGCGCCGCAA	0.647000													4	136					0	0	0.009096	0	0
PCLO	27445	broad.mit.edu	37	7	82543963	82543963	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr7:82543963A>T	ENST00000437081.1	-	2	3499	c.3499T>A	c.(3499-3501)Tca>Aca	p.S1167T	PCLO_ENST00000423517.2_Intron|PCLO_ENST00000333891.8_Intron			Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	0					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAAGAGTTTGAGTTTTGAGAG	0.378000													8	16					0	0	0.038147	0	0
HNRNPL	3191	broad.mit.edu	37	19	39327374	39327374	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:39327374C>A	ENST00000221419.5	-	13	2124	c.1758G>T	c.(1756-1758)caG>caT	p.Q586H	AC104534.3_ENST00000594769.1_Intron|HNRNPL_ENST00000600873.1_Missense_Mutation_p.Q453H	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	586					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			AGGAGGCGTGCTGAGCAGTGG	0.453000													4	162					0.00909568	0.00964693	0.009096	1	0
OGFR	11054	broad.mit.edu	37	20	61444556	61444556	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr20:61444556C>T	ENST00000370461.1	+	5	3710	c.1433C>T	c.(1432-1434)gCa>gTa	p.A478V	OGFR_ENST00000370468.3_Intron|OGFR_ENST00000290291.6_Missense_Mutation_p.A530V			Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	530					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GCAGGACCTGCAGGGGACGAG	0.701000													4	15					0	0	0.009096	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090676	91090676	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chrX:91090676C>A	ENST00000373094.1	+	1	1018	c.173C>A	c.(172-174)aCa>aAa	p.T58K	PCDH11X_ENST00000406881.1_Missense_Mutation_p.T58K|PCDH11X_ENST00000395337.2_Missense_Mutation_p.T58K|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T58K|PCDH11X_ENST00000361724.1_Missense_Mutation_p.T58K|PCDH11X_ENST00000373097.1_Missense_Mutation_p.T58K|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T58K|PCDH11X_ENST00000373088.1_Missense_Mutation_p.T58K|PCDH11X_ENST00000504220.1_Missense_Mutation_p.T58K	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	58	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AAGTCCTTGACAACTGCTATG	0.453000													36	68					9.04072e-19	1.04603e-18	0.015359	1	0
IQCA1	79781	broad.mit.edu	37	2	237374156	237374156	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:237374156G>A	ENST00000409907.3	-	6	1192	c.918C>T	c.(916-918)atC>atT	p.I306I	IQCA1_ENST00000309507.5_Silent_p.I302I|IQCA1_ENST00000431676.2_Silent_p.I306I			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	306							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						ACCTGCATTCGATGAACCAAT	0.423000													11	30					0	0	0.008291	0	0
SCRIB	23513	broad.mit.edu	37	8	144893098	144893098	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr8:144893098G>A	ENST00000356994.2	-	11	1257	c.1251C>T	c.(1249-1251)ccC>ccT	p.P417P	SCRIB_ENST00000377533.3_Silent_p.P336P|SCRIB_ENST00000320476.3_Silent_p.P417P	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	417	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGGGCTGCTGGGGCAGCAAGT	0.667000													5	22					0	0	0.021553	0	0
CERKL	375298	broad.mit.edu	37	2	182423402	182423402	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:182423402G>A	ENST00000410087.3	-	5	811	c.711C>T	c.(709-711)agC>agT	p.S237S	CERKL_ENST00000339098.5_Silent_p.S263S|CERKL_ENST00000374970.2_Intron|CERKL_ENST00000374969.2_Intron|CERKL_ENST00000409440.3_Silent_p.S219S|CERKL_ENST00000479558.1_5'UTR	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	263	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GGGCTACTTCGCTAGCAGATC	0.433000													15	28					0	0	0.028581	0	0
NEB	4703	broad.mit.edu	37	2	152543963	152543963	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:152543963G>C	ENST00000397345.3	-	27	2809	c.2607C>G	c.(2605-2607)caC>caG	p.H869Q	NEB_ENST00000604864.1_Missense_Mutation_p.H869Q|NEB_ENST00000172853.10_Missense_Mutation_p.H869Q|NEB_ENST00000427231.2_Missense_Mutation_p.H869Q|NEB_ENST00000409198.1_Missense_Mutation_p.H869Q|NEB_ENST00000603639.1_Missense_Mutation_p.H869Q	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	869					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)		TCTTCAAGGAGTGCAGCATCT	0.438000													43	155					0	0	0.014410	0	0
NOTCH2	4853	broad.mit.edu	37	1	120539889	120539893	+	Frame_Shift_Del	DEL	GTGGT	GTGGT	-			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:120539889_120539893delGTGGT	ENST00000256646.2	-	4	697_701	c.478_482delACCAC	c.(478-483)tfs	p.TT160fs	NOTCH2_ENST00000602566.1_Frame_Shift_Del_p.TT121fs	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	160	EGF-like 4.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGGCCACAGTGGTACAGGTACTT	0.502			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				13	119	---	---	---	---					
RPTN	126638	broad.mit.edu	37	1	152128025	152128028	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:152128025_152128028delTGTC	ENST00000316073.3	-	3	1611_1614	c.1547_1550delGACA	c.(1546-1551)aafs	p.RQ516fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	516	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.500													8	1252	---	---	---	---					
AC009878.2	0	broad.mit.edu	37	15	26654871	26654871	+	RNA	DEL	A	A	-	rs113031284		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr15:26654871delA	ENST00000451579.1	+	0	173																											acttcatctcaaaaaaaaaaa	0.458													2	4	---	---	---	---					
ENO3	2027	broad.mit.edu	37	17	4856404	4856404	+	Splice_Site	DEL	G	G	-			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:4856404delG	ENST00000323997.6	+	4	372	c.240_splice	c.e4+1	p.K81_splice	ENO3_ENST00000518175.1_Splice_Site_p.K81_splice|ENO3_ENST00000519584.1_Intron	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	81					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						TGCTGCAAAAGGCAAGTGGGG	0.577													18	58	---	---	---	---					
ASXL1	171023	broad.mit.edu	37	20	31021696	31021696	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr20:31021696delG	ENST00000375687.4	+	12	2119	c.1695delG	c.(1693-1695)gafs	p.E566fs	ASXL1_ENST00000306058.5_Frame_Shift_Del_p.E561fs	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	566					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CCACTAAAGAGGAGCCCAAAG	0.512			"""F, N, Mis"""		"""MDS, CMML"""								31	121	---	---	---	---					
