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
AADACL4	343066	broad.mit.edu	37	1	12726313	12726313	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr1:12726313G>A	uc001auf.3	+	3	791	c.791G>A	c.(790-792)cGt>cAt	p.R264H		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	264						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CTCTCCTGGCGTGACGCCATC	0.498												
MCL1	4170	broad.mit.edu	37	1	150550855	150550856	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr1:150550855_150550856delGA	uc001euz.3	-	1	1008_1009	c.800_801delTC	c.(799-801)ctcfs	p.L267fs	MCL1_uc010pch.2_Frame_Shift_Del_p.L157fs|MCL1_uc021oyf.1_Frame_Shift_Del_p.L114fs|MCL1_uc001eva.3_Intron	NM_021960	NP_068779	Q07820	MCL1_HUMAN	Homo sapiens myeloid cell leukemia sequence 1 (BCL2-related) (MCL1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	267					anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CAAAAGAAATGAGAGTCACAAT	0.436												
MDM4	4194	broad.mit.edu	37	1	204507404	204507404	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr1:204507404C>G	uc001hba.3	+	6	645	c.479C>G	c.(478-480)aCc>aGc	p.T160S	MDM4_uc001hbd.2_Non-coding_Transcript|MDM4_uc010pqw.2_Non-coding_Transcript|MDM4_uc010pqx.2_Missense_Mutation_p.T33S|MDM4_uc001hay.2_Missense_Mutation_p.T160S|MDM4_uc021phx.1_Intron|MDM4_uc001hbb.3_Missense_Mutation_p.T33S|MDM4_uc010pqy.2_Intron|MDM4_uc001hbc.3_Non-coding_Transcript|MDM4_uc009xbe.1_Non-coding_Transcript	NM_002393	NP_002384	O15151	MDM4_HUMAN	Homo sapiens Mdm4 p53 binding protein homolog (mouse) (MDM4), transcript variant 1, mRNA.	160					apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding	p.T160S(2)|p.T160T(1)		central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ACACTGCCTACCTCAGAGCAT	0.393			A		"""GBM, bladder, retinoblastoma"""							
CR1L	1379	broad.mit.edu	37	1	207868047	207868047	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr1:207868047G>T	uc001hga.4	+	4	934	c.813G>T	c.(811-813)aaG>aaT	p.K271N	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	271	Sushi 4.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCCATGTGAAGTGCCAGGCCC	0.507												
USH2A	7399	broad.mit.edu	37	1	216052218	216052218	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr1:216052218T>G	uc001hku.1	-	41	8833	c.8446A>C	c.(8446-8448)Act>Cct	p.T2816P		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2816					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGGGGTGAGTGGTAACATAG	0.458										HNSCC(13;0.011)		
CRTAC1	55118	broad.mit.edu	37	10	99696002	99696002	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr10:99696002C>T	uc001kou.2	-	2	702	c.346G>A	c.(346-348)Ggg>Agg	p.G116R	CRTAC1_uc001kov.3_Missense_Mutation_p.G116R|CRTAC1_uc001kot.2_5'UTR	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.	116						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GCTGTGACCCCGATGGCGTTC	0.632												
C10orf46	143384	broad.mit.edu	37	10	120513921	120513923	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr10:120513921_120513923delGGA	uc001lds.1	-	0	836_838	c.352_354delTCC	c.(352-354)tccdel	p.S118del	C10orf46_uc010qst.1_Non-coding_Transcript	NM_153810	NP_722517	Q86Y37	CJ046_HUMAN	Homo sapiens chromosome 10 open reading frame 46 (C10orf46), mRNA.	118					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0131)		ACTTGGAGGTGGAGGTGTTGATG	0.621												
LRRC56	115399	broad.mit.edu	37	11	544759	544759	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr11:544759G>A	uc010qvz.2	+	5	810	c.305G>A	c.(304-306)gGc>gAc	p.G102D		NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN	Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA.	102										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGCTGAACGGCAGCCACCTG	0.701												
SLC22A25	387601	broad.mit.edu	37	11	62995959	62995959	+	Silent	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr11:62995959G>A	uc001nwr.1	-	1	480	c.480C>T	c.(478-480)ggC>ggT	p.G160G	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Silent_p.G160G	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	160					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CATATAGGTTGCCTCCCACCA	0.408												
CREBZF	58487	broad.mit.edu	37	11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr11:85375242_85375244delCTT	uc001pas.2	-	0	939_941	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_uc010rtd.1_Non-coding_Transcript|CREBZF_uc010rtc.1_Non-coding_Transcript	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN	Homo sapiens CREB/ATF bZIP transcription factor (CREBZF), transcript variant 1, mRNA.	226					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K226delK(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
EXPH5	23086	broad.mit.edu	37	11	108382300	108382300	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr11:108382300C>T	uc001pkk.3	-	5	4045	c.3934G>A	c.(3934-3936)Gaa>Aaa	p.E1312K	EXPH5_uc010rvz.2_Missense_Mutation_p.E1156K|EXPH5_uc010rvy.2_Missense_Mutation_p.E1124K	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1312					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTTAGATTTTCACATGAAGGT	0.413												
ASUN	55726	broad.mit.edu	37	12	27059333	27059333	+	Silent	SNP	G	G	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:27059333G>T	uc001rhk.4	-	15	2520	c.1983C>A	c.(1981-1983)atC>atA	p.I661I	ASUN_uc001rhj.4_Silent_p.I229I|ASUN_uc010sjk.2_Silent_p.I560I	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	Homo sapiens asunder, spermatogenesis regulator homolog (Drosphila) (ASUN), mRNA.	661					cell division|mitosis|regulation of mitotic cell cycle		protein binding										TGGCAGTATTGATTCTATTAC	0.323												
LRRK2	120892	broad.mit.edu	37	12	40668431	40668431	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:40668431C>G	uc001rmg.4	+	14	1824	c.1703C>G	c.(1702-1704)tCt>tGt	p.S568C	LRRK2_uc001rmh.1_Missense_Mutation_p.S190C	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	568					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AAAGTAATTTCTTCTATTGTA	0.358												
ANKRD52	283373	broad.mit.edu	37	12	56638930	56638930	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:56638930A>G	uc001skm.4	-	21	2539	c.2449T>C	c.(2449-2451)Tcg>Ccg	p.S817P		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	817							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TCCAGGTACGAAAACGGGCTG	0.522												
ANKRD52	283373	broad.mit.edu	37	12	56639372	56639372	+	Silent	SNP	A	A	C			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:56639372A>C	uc001skm.4	-	20	2283	c.2193T>G	c.(2191-2193)acT>acG	p.T731T		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	731							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CCTCACAGCCAGTCACTGCCT	0.587												
IL22	50616	broad.mit.edu	37	12	68647046	68647046	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:68647046C>G	uc001sty.1	-	0	236	c.183G>C	c.(181-183)aaG>aaC	p.K61N	IL22_uc010stb.1_Missense_Mutation_p.K61N	NM_020525	NP_065386	Q9GZX6	IL22_HUMAN	Homo sapiens interleukin 22 (IL22), mRNA.	61					acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		TGTATACCTCCTTAGCCAGCA	0.483												
RPLP0	6175	broad.mit.edu	37	12	120636422	120636422	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:120636422C>T	uc001txp.3	-	5	823	c.586G>A	c.(586-588)Ggc>Agc	p.G196S	RPLP0_uc001txr.3_Intron|RPLP0_uc001txq.3_Missense_Mutation_p.G196S|RPLP0_uc021ret.1_Non-coding_Transcript|LOC100506649_uc021reu.1_5'Flank	NM_053275	NP_444505	P05388	RLA0_HUMAN	Homo sapiens ribosomal protein, large, P0 (RPLP0), transcript variant 2, mRNA.	196					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGATGCTGCCATTGTCGAAC	0.532												
HIP1R	9026	broad.mit.edu	37	12	123346052	123346052	+	Silent	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:123346052G>A	uc001udj.1	+	30	3209	c.3150G>A	c.(3148-3150)caG>caA	p.Q1050Q	HIP1R_uc001udk.1_Silent_p.Q315Q	NM_003959	NP_003950	O75146	HIP1R_HUMAN	Homo sapiens huntingtin interacting protein 1 related (HIP1R), mRNA.	1050					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CCCCCAGACAGGACCACCAGG	0.677												
NALCN	259232	broad.mit.edu	37	13	102047697	102047697	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr13:102047697C>T	uc001vox.1	-	2	317	c.128G>A	c.(127-129)cGc>cAc	p.R43H	NALCN_uc001voy.3_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.R43H|NALCN_uc001vpa.2_Missense_Mutation_p.R43H	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	43						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGCACAGATGCGCAGCAAAGA	0.433												
OR4N2	390429	broad.mit.edu	37	14	20295961	20295961	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr14:20295961G>A	uc010tkv.2	+	0	354	c.354G>A	c.(352-354)atG>atA	p.M118I		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGTTGTGATGGCCTTTGACC	0.517												
MIA2	117153	broad.mit.edu	37	14	39703346	39703348	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr14:39703346_39703348delCTT	uc001wux.3	+	0	222_224	c.28_30delCTT	c.(28-30)cttdel	p.L12del	MIA2_uc010amy.2_5'UTR	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	12						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TCACAGAATCCTTCTTCTGGCTA	0.424												
SIN3A	25942	broad.mit.edu	37	15	75705213	75705213	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr15:75705213A>G	uc002bai.3	-	4	906	c.647T>C	c.(646-648)aTc>aCc	p.I216T	SIN3A_uc002baj.3_Missense_Mutation_p.I216T|SIN3A_uc010uml.2_Missense_Mutation_p.I216T	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	216	Interaction with REST (By similarity).			I -> T (in Ref. 3; BAC04801).	blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	p.I216T(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						ctgtggctggATGCCATGGGT	0.577												
DHX38	9785	broad.mit.edu	37	16	72130894	72130894	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr16:72130894G>A	uc002fcb.3	+	2	852	c.497G>A	c.(496-498)cGc>cAc	p.R166H	TXNL4B_uc010vmo.2_5'Flank|DHX38_uc010vmp.2_Intron|DHX38_uc010cgn.1_Non-coding_Transcript	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	166					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GACTATGACCGCAAGAGGGAC	0.488												
OR3A1	4994	broad.mit.edu	37	17	3195464	3195464	+	Missense_Mutation	SNP	C	C	T	rs143631940		TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr17:3195464C>T	uc002fvh.1	-	0	413	c.413G>A	c.(412-414)cGc>cAc	p.R138H		NM_002550	NP_002541	P47881	OR3A1_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 1 (OR3A1), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						CTGACTCATGCGGGTGCTGTA	0.582												
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (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.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)		
UBC	7316	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr17:21730916G>T	uc002gyy.3	+	1	343	c.218G>T	c.(217-219)cGg>cTg	p.R73L				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	225	Ubiquitin-like 1.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.R73L(24)|p.R72S(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GTCCTGCGTCGGAGAGGTGGT	0.552												
CALR3	125972	broad.mit.edu	37	19	16593572	16593572	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr19:16593572C>T	uc002ned.2	-	5	766	c.703G>A	c.(703-705)Gcc>Acc	p.A235T	MED26_uc002nee.2_Non-coding_Transcript	NM_145046	NP_659483	Q96L12	CALR3_HUMAN	Homo sapiens calreticulin 3 (CALR3), mRNA.	235	4 X approximate repeats.|P-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						CTGGTGCTGGCGTCCAGAAAA	0.498												
ZNF790	388536	broad.mit.edu	37	19	37310870	37310870	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr19:37310870G>A	uc021utk.1	-	4	805	c.376C>T	c.(376-378)Cag>Tag	p.Q126*	LOC284408_uc021utj.1_Intron|LOC284408_uc002oev.2_Intron|ZNF790_uc002oew.3_Nonsense_Mutation_p.Q126*|ZNF790_uc021utl.1_Nonsense_Mutation_p.Q126*|ZNF790_uc021utm.1_Nonsense_Mutation_p.Q126*	NM_001242802	NP_001229731	Q6PG37	ZN790_HUMAN	Homo sapiens zinc finger protein 790 (ZNF790), transcript variant 4, mRNA.	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTTTGAAACTGAGTGTTGCCT	0.383												
SIGLEC6	946	broad.mit.edu	37	19	52033694	52033694	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr19:52033694C>T	uc002pwy.3	-	3	959	c.751G>A	c.(751-753)Gca>Aca	p.A251T	SIGLEC6_uc002pwz.3_Intron|SIGLEC6_uc010ydb.2_Intron|SIGLEC6_uc010ydc.2_Missense_Mutation_p.A262T|SIGLEC6_uc002pxa.3_Missense_Mutation_p.A251T|SIGLEC6_uc010eoz.2_Missense_Mutation_p.A240T|SIGLEC6_uc010epa.2_Missense_Mutation_p.A240T|SIGLEC6_uc010epb.2_Missense_Mutation_p.A204T	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	251	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		p.A251T(1)		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)		TTCCTACCTGCGCTGTTTCCT	0.562												
ITGB1BP1	9270	broad.mit.edu	37	2	9547680	9547681	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr2:9547680_9547681delAC	uc002qzj.3	-	5	605_606	c.428_429delGT	c.(427-429)tgtfs	p.C143fs	ITGB1BP1_uc002qzm.3_Non-coding_Transcript|ITGB1BP1_uc002qzk.3_Intron|ITGB1BP1_uc002qzl.3_Intron|ITGB1BP1_uc010yiy.2_Frame_Shift_Del_p.C99fs|ITGB1BP1_uc002qzn.1_Frame_Shift_Del_p.C143fs	NM_004763	NP_004754	O14713	ITBP1_HUMAN	Homo sapiens integrin beta 1 binding protein 1 (ITGB1BP1), transcript variant 1, mRNA.	143	PID.				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		CGTCATCGTAACACACCATCCG	0.480												
OLA1	29789	broad.mit.edu	37	2	174945887	174945887	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr2:174945887G>C	uc002uih.3	-	8	1145	c.959C>G	c.(958-960)aCc>aGc	p.T320S	OLA1_uc002uii.3_Missense_Mutation_p.T162S|OLA1_uc010fqq.3_Missense_Mutation_p.T299S|OLA1_uc010fqr.3_Intron	NM_013341	NP_001011708	Q9NTK5	OLA1_HUMAN	Homo sapiens Obg-like ATPase 1 (OLA1), transcript variant 1, mRNA.	320					ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						TACCCTGATGGTCCATGCACG	0.418												
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma							
DEFB125	245938	broad.mit.edu	37	20	77035	77035	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr20:77035C>T	uc002wcw.3	+	1	448	c.448C>T	c.(448-450)Cag>Tag	p.Q150*		NM_153325	NP_697020	Q8N687	DB125_HUMAN	Homo sapiens defensin, beta 125 (DEFB125), mRNA.	150					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			ACCACCTTCTCAGACAGCTCT	0.428												
ZNF343	79175	broad.mit.edu	37	20	2464182	2464182	+	Silent	SNP	A	A	G			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr20:2464182A>G	uc002wge.1	-	5	1913	c.1425T>C	c.(1423-1425)agT>agC	p.S475S	ZNF343_uc010gao.1_Silent_p.S475S|ZNF343_uc002wgd.1_Silent_p.S385S	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	Homo sapiens zinc finger protein 343 (ZNF343), mRNA.	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S475S(4)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GTGATTTCCGACTAAAGCCTC	0.527												
CEP250	11190	broad.mit.edu	37	20	34084435	34084436	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr20:34084435_34084436delAG	uc021wco.1	+	24	3844_3845	c.3197_3198delAG	c.(3196-3198)cagfs	p.Q1066fs	CEP250_uc010zve.2_Frame_Shift_Del_p.Q434fs	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	1066	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAAAAGGAACAGAGACTCCTTG	0.480												
HMOX1	3162	broad.mit.edu	37	22	35783113	35783113	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr22:35783113G>A	uc003ant.2	+	2	687	c.580G>A	c.(580-582)Gca>Aca	p.A194T		NM_002133	NP_002124	P09601	HMOX1_HUMAN	Homo sapiens heme oxygenase (decycling) 1 (HMOX1), mRNA.	194					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					NADH(DB00157)	GATGACTCCCGCAGTCAGGCA	0.622												
MYH9	4627	broad.mit.edu	37	22	36745230	36745232	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr22:36745230_36745232delTGA	uc003apg.3	-	1	281_283	c.50_52delTCA	c.(49-54)atcaac>aac	p.I17del	MYH9_uc003api.1_In_Frame_Del_p.I17del	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	17	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						AGCGGATTGTTGATGAAGTTTTT	0.542			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated			
PROS1	5627	broad.mit.edu	37	3	93611922	93611922	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr3:93611922A>G	uc003drb.4	-	9	1351	c.1010T>C	c.(1009-1011)gTg>gCg	p.V337A	PROS1_uc010hoo.3_Missense_Mutation_p.V206A|PROS1_uc003dqz.4_Missense_Mutation_p.V206A	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	337	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.V337M(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	GTACAGTATCACGCCTTCTGA	0.398												
C3orf22	152065	broad.mit.edu	37	3	126268815	126268815	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr3:126268815G>A	uc003ejb.3	-	3	651	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C		NM_152533	NP_689746	Q8N5N4	CC022_HUMAN	Homo sapiens chromosome 3 open reading frame 22 (C3orf22), mRNA.	108										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		GGGAAGCGGCGACTCAGCAAC	0.632												
CHST2	9435	broad.mit.edu	37	3	142841108	142841108	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr3:142841108C>T	uc003evm.3	+	1	2389	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W	CHST2_uc021xex.1_Missense_Mutation_p.R484W	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.	484					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CAATGCCTGGCGGACCGCCCT	0.607												
ABCA11P	170960	broad.mit.edu	37	4	437518	437518	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr4:437518C>G	uc003gaf.4	-	2	1060	c.834G>C	c.(832-834)gaG>gaC	p.E278D	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.E246D|ABCA11P_uc010ibe.3_Missense_Mutation_p.E234D	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		TGTAGGGTTTCTCTCCAGTAT	0.368												
FAM193A	8603	broad.mit.edu	37	4	2661629	2661629	+	Silent	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr4:2661629C>T	uc010ick.3	+	8	1321	c.1320C>T	c.(1318-1320)ctC>ctT	p.L440L	FAM193A_uc003gfd.3_Silent_p.L240L|FAM193A_uc011bvm.2_Silent_p.L264L|FAM193A_uc011bvn.2_Silent_p.L240L|FAM193A_uc010icl.3_Silent_p.L240L|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Silent_p.L94L	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	240										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TTCACCAGCTCCCACTTCAAG	0.562												
ZNF518B	85460	broad.mit.edu	37	4	10446518	10446518	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr4:10446518C>T	uc003gmn.3	-	2	1922	c.1435G>A	c.(1435-1437)Gtt>Att	p.V479I	ZNF518B_uc021xme.1_Missense_Mutation_p.V479I	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TTTAAGGCAACGGAAGGAAAA	0.348												
EXOC1	55763	broad.mit.edu	37	4	56750010	56750010	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr4:56750010C>T	uc003hbe.1	+	9	1404	c.1246C>T	c.(1246-1248)Cga>Tga	p.R416*	EXOC1_uc003hbf.1_Nonsense_Mutation_p.R416*|EXOC1_uc003hbg.1_Nonsense_Mutation_p.R416*|U6_uc021xoo.1_5'Flank	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	Homo sapiens exocyst complex component 1 (EXOC1), transcript variant 1, mRNA.	416					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TTATTTATCCCGACTATATGA	0.299												
PIK3R1	5295	broad.mit.edu	37	5	67591126	67591127	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr5:67591126_67591127delGA	uc003jva.3	+	12	2299_2300	c.1719_1720delGA	c.(1717-1722)ctgagafs	p.L573fs	PIK3R1_uc003jvc.3_Frame_Shift_Del_p.L273fs|PIK3R1_uc003jvd.3_Frame_Shift_Del_p.L303fs|PIK3R1_uc003jve.3_Frame_Shift_Del_p.L252fs|PIK3R1_uc021xzn.1_Frame_Shift_Del_p.L210fs|PIK3R1_uc011crb.2_Frame_Shift_Del_p.L243fs	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	573					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.R574_T576del(4)|p.L570_D578del(2)|p.L573P(2)|p.R574T(2)|p.R574fs*27(1)|p.0?(1)|p.?(1)|p.R574I(1)|p.L570_Q572del(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TTATCCAGCTGAGAAAGACGAG	0.381			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
SLC12A2	6558	broad.mit.edu	37	5	127420118	127420118	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr5:127420118G>C	uc003kus.3	+	0	636	c.472G>C	c.(472-474)Gat>Cat	p.D158H	FLJ33630_uc003kun.3_5'Flank|FLJ33630_uc003kuo.3_5'Flank|FLJ33630_uc003kuq.1_5'Flank|FLJ33630_uc003kur.3_5'Flank|SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Missense_Mutation_p.D158H	NM_001046	NP_001037	P55011	S12A2_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	158					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAGCCTGTCAGATGCTGCCGG	0.692												
PCDHAC2	56139	broad.mit.edu	37	5	140237249	140237249	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr5:140237249G>C	uc003lhx.2	+	0	1616	c.1616G>C	c.(1615-1617)gGg>gCg	p.G539A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc011dad.2_Missense_Mutation_p.G539A	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	554	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.G539A(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGATGGGGGCGTGCCG	0.687												
MYOZ3	91977	broad.mit.edu	37	5	150050115	150050115	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr5:150050115G>A	uc003lss.2	+	2	718	c.131G>A	c.(130-132)cGc>cAc	p.R44H	MYOZ3_uc003lsr.2_Missense_Mutation_p.R44H	NM_001122853	NP_588612	Q8TDC0	MYOZ3_HUMAN	Homo sapiens myozenin 3 (MYOZ3), transcript variant 1, mRNA.	44						sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGTCACTACGCAACAACAGA	0.612												
PSMB8	5696	broad.mit.edu	37	6	32809494	32809494	+	Missense_Mutation	SNP	C	C	T	rs78945358	by1000genomes	TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr6:32809494C>T	uc003oce.3	-	4	599	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	TAP2_uc011dqf.1_5'Flank|TAP2_uc003ocb.1_5'Flank|TAP2_uc003ocd.3_5'Flank|PSMB8_uc003ocf.3_Missense_Mutation_p.V182M|LOC100507463_uc021ywa.1_5'Flank|LOC100507463_uc021ywb.1_5'Flank|LOC100507463_uc021ywc.1_5'Flank|LOC100507463_uc021ywd.1_5'Flank	NM_148919	NP_683720	P28062	PSB8_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7) (PSMB8), transcript variant 2, mRNA.	186					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						TGTTCATCCACGTAGTAGAGT	0.463												
CCND3	896	broad.mit.edu	37	6	41903737	41903738	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr6:41903737_41903738insG	uc003orn.3	-	4	984_985	c.819_820insC	c.(817-822)tccagcfs	p.S273fs	CCND3_uc003orp.3_Frame_Shift_Ins_p.S192fs|CCND3_uc011duk.2_Frame_Shift_Ins_p.S77fs|CCND3_uc003orm.3_Frame_Shift_Ins_p.S223fs|CCND3_uc003oro.3_Frame_Shift_Ins_p.S201fs	NM_001760	NP_001129489	P30281	CCND3_HUMAN	Homo sapiens cyclin D3 (CCND3), transcript variant 2, mRNA.	273					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCTTGGCTGCTGGAGCCCCGGG	0.649			T	IGH@	MM							
FABP7	2173	broad.mit.edu	37	6	123101455	123101455	+	Silent	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr6:123101455G>A	uc003pzf.3	+	1	387	c.93G>A	c.(91-93)agG>agA	p.R31R	FABP7_uc003pzd.3_Silent_p.R31R|FABP7_uc003pze.1_Silent_p.R31R	NM_001446	NP_001437	O15540	FABP7_HUMAN	Homo sapiens fatty acid binding protein 7, brain (FABP7), mRNA.	31					negative regulation of cell proliferation	cytoplasm	lipid binding|transporter activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5				GBM - Glioblastoma multiforme(226;0.226)	Alpha-Linolenic Acid(DB00132)|gamma-Homolinolenic acid(DB00154)|Icosapent(DB00159)	TTGCCACTAGGCAGGTGGGAA	0.448												
DYNC1I1	1780	broad.mit.edu	37	7	95657586	95657586	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr7:95657586C>T	uc003uoc.4	+	10	1397	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	DYNC1I1_uc003uod.4_Nonsense_Mutation_p.R357*|DYNC1I1_uc003uob.3_Nonsense_Mutation_p.R337*|DYNC1I1_uc003uoe.4_Nonsense_Mutation_p.R354*|DYNC1I1_uc010lfl.3_Nonsense_Mutation_p.R363*	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	374					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	p.H373L(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TCGCAGTCATCGAAGGACTCC	0.547												
JPH1	56704	broad.mit.edu	37	8	75156952	75156952	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr8:75156952A>G	uc003yae.3	-	3	1757	c.1717T>C	c.(1717-1719)Tcc>Ccc	p.S573P	JPH1_uc003yaf.3_Missense_Mutation_p.S573P|JPH1_uc003yag.1_Missense_Mutation_p.S437P	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	573					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GACTGGCTGGATCCATCGCCG	0.552												
P2RY8	286530	broad.mit.edu	37	X	1584564	1584564	+	Silent	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chrX:1584564C>T	uc022brv.1	-	0	888	c.888G>A	c.(886-888)gcG>gcA	p.A296A	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Silent_p.A296A	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	296						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		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)				ATTCCCGGGACGCAAAGTAAT	0.602			T	CRLF2	"""B-ALL, Downs associated ALL"""							
ATRX	546	broad.mit.edu	37	X	76938089	76938092	+	Frame_Shift_Del	DEL	TCTC	TCTC	-	rs141180098		TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chrX:76938089_76938092delTCTC	uc004ecp.4	-	8	2888_2891	c.2656_2659delGAGA	c.(2656-2661)gagactfs	p.E886fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.E848fs|ATRX_uc004eco.4_Frame_Shift_Del_p.E671fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.E818fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.E857fs|ATRX_uc010nly.1_Frame_Shift_Del_p.E831fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	886					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.E886fs*18(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GAAGAGAAAGTCTCTCTCTCTTGT	0.412			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome