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
EPHB2	2048	broad.mit.edu	37	1	23208926	23208926	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr1:23208926G>A	uc009vqj.1	+	5	1523	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N	EPHB2_uc001bge.3_Missense_Mutation_p.D460N|EPHB2_uc001bgf.3_Missense_Mutation_p.D460N|EPHB2_uc010odu.2_Missense_Mutation_p.D460N	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	460	Fibronectin type-III 2.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GTCCCAGCCGGACCAGCCCAA	0.607												
AMPD2	271	broad.mit.edu	37	1	110171969	110171969	+	Silent	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr1:110171969G>A	uc009wfh.1	+	14	2423	c.1881G>A	c.(1879-1881)gtG>gtA	p.V627V	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Silent_p.V546V|AMPD2_uc001dyc.1_Silent_p.V627V|AMPD2_uc010ovr.1_Silent_p.V552V|AMPD2_uc001dyd.1_Silent_p.V508V|AMPD2_uc001dye.1_5'UTR	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	627					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		TTGACAGCGTGGATGATGAGT	0.587												
COPA	1314	broad.mit.edu	37	1	160268961	160268961	+	Silent	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr1:160268961G>A	uc001fvv.4	-	17	2182	c.1788C>T	c.(1786-1788)ccC>ccT	p.P596P	COPA_uc009wti.3_Silent_p.P587P	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	587					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGAGTACCCGGGGACGACACT	0.463												
EPHX1	2052	broad.mit.edu	37	1	226027691	226027691	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr1:226027691G>A	uc001hpk.3	+	5	964	c.884G>A	c.(883-885)aGg>aAg	p.R295K	EPHX1_uc001hpl.3_Missense_Mutation_p.R295K	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA.	295					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					AGCCTGATGAGGGAGAGCGGC	0.607												
LRRC18	474354	broad.mit.edu	37	10	50121549	50121549	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr10:50121549G>A	uc001jhd.3	-	0	732	c.652C>T	c.(652-654)Cgg>Tgg	p.R218W	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.R218W	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	218						cytoplasm		p.A217T(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						AGGTTGTCCCGGGCGTTTTGG	0.498												
OR56B1	387748	broad.mit.edu	37	11	5758585	5758585	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr11:5758585T>C	uc001mbt.2	+	0	908	c.839T>C	c.(838-840)aTt>aCt	p.I280T	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GCTACTTTGATTCCAGTTCTA	0.428												
TRPC6	7225	broad.mit.edu	37	11	101323720	101323720	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr11:101323720G>A	uc001pgk.4	-	12	3187	c.2762C>T	c.(2761-2763)tCc>tTc	p.S921F	TRPC6_uc009ywy.3_Missense_Mutation_p.S805F	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	921					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGGTTCCATGGATAATTTCTC	0.348												
ITGA5	3678	broad.mit.edu	37	12	54793512	54793512	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr12:54793512G>A	uc001sga.3	-	26	2826	c.2758C>T	c.(2758-2760)Cgc>Tgc	p.R920C		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	920					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	p.L919L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						AGCTCACAGCGCAGCCTGAAA	0.552											OREG0021897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
OR4K13	390433	broad.mit.edu	37	14	20502539	20502539	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr14:20502539A>G	uc010tkz.2	-	0	379	c.379T>C	c.(379-381)Tgc>Cgc	p.C127R		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGGGGTTTGCATATGGCAACA	0.478												
NID2	22795	broad.mit.edu	37	14	52535489	52535489	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr14:52535489A>G	uc001wzo.3	-	0	458	c.224T>C	c.(223-225)cTc>cCc	p.L75P	NID2_uc010tqs.2_Missense_Mutation_p.L75P|NID2_uc010tqt.1_Missense_Mutation_p.L75P|NID2_uc001wzp.3_Missense_Mutation_p.L75P	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	75						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ACTTACGTAGAGGTTGCTGAA	0.612												
OTX2	5015	broad.mit.edu	37	14	57269073	57269073	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr14:57269073C>T	uc001xcq.3	-	5	548	c.274_splice	c.e5-1	p.V92_splice	OTX2_uc001xcp.3_Splice_Site_p.V84_splice|OTX2_uc021rtm.1_Splice_Site|OTX2_uc010aou.3_Splice_Site_p.V84_splice	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	84					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					TTAAACCATACCTTGGAAGGG	0.418												
TMEM229B	161145	broad.mit.edu	37	14	67940183	67940183	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr14:67940183G>A	uc001xjk.3	-	2	868	c.458C>T	c.(457-459)cCc>cTc	p.P153L	TMEM229B_uc001xjj.1_Non-coding_Transcript|TMEM229B_uc021rvb.1_Missense_Mutation_p.P153L	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	Homo sapiens transmembrane protein 229B (TMEM229B), mRNA.	153						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGCGCCGCTGGGCTCCCCGGG	0.647												
KLC1	3831	broad.mit.edu	37	14	104135871	104135871	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr14:104135871C>A	uc001yno.3	+	5	1129	c.821C>A	c.(820-822)gCa>gAa	p.A274E	KLC1_uc010tyd.1_Missense_Mutation_p.A433E|KLC1_uc010tye.1_Missense_Mutation_p.A270E|KLC1_uc001ynm.1_Missense_Mutation_p.A274E|KLC1_uc010tyf.2_Missense_Mutation_p.A274E	NM_182923	NP_891553	Q07866	KLC1_HUMAN	Homo sapiens kinesin light chain 1 (KLC1), transcript variant 2, mRNA.	274					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				TACAAAGATGCAGCTAACCTA	0.328												
HDC	3067	broad.mit.edu	37	15	50534668	50534668	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr15:50534668C>A	uc001zxz.3	-	11	2120	c.1778G>T	c.(1777-1779)aGt>aTt	p.S593I	HDC_uc001zxy.3_Missense_Mutation_p.S336I|HDC_uc010uff.2_Missense_Mutation_p.S560I	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	593					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CTTCTGAGCACTCACTGGCAC	0.532												
MESP2	145873	broad.mit.edu	37	15	90321328	90321328	+	Silent	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr15:90321328G>A	uc002bon.3	+	1	957	c.957G>A	c.(955-957)tcG>tcA	p.S319S	MESP2_uc010uqa.2_Silent_p.S21S	NM_001039958	NP_001035047	Q0VG99	MESP2_HUMAN	Homo sapiens mesoderm posterior 2 homolog (mouse) (MESP2), mRNA.	319					Notch signaling pathway	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			CCTGTCTGTCGCTGGGAGCTC	0.597												
C15orf38-AP3S2	10239	broad.mit.edu	37	15	90451602	90451602	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr15:90451602G>A	uc002bos.4	-	2	366	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C	C15orf38-AP3S2_uc002bot.1_Non-coding_Transcript|C15orf38-AP3S2_uc002bou.2_Missense_Mutation_p.R71C	NM_001199058	NP_001185987	E2QRD5	E2QRD5_HUMAN	Homo sapiens C15orf38-AP3S2 readthrough (C15orf38-AP3S2), mRNA.	71					intracellular protein transport|vesicle-mediated transport	membrane coat	protein transporter activity										AATTTACGGCGATGGATGTGA	0.567												
PLCG2	5336	broad.mit.edu	37	16	81944227	81944227	+	Silent	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr16:81944227C>T	uc002fgt.3	+	17	2014	c.1836C>T	c.(1834-1836)gcC>gcT	p.A612A	PLCG2_uc010chg.1_Silent_p.A612A	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	612	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GCATCTATGCCCTCATCCAGC	0.642												
DNAH2	146754	broad.mit.edu	37	17	7668816	7668816	+	Silent	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr17:7668816C>T	uc002giu.1	+	19	3458	c.3444C>T	c.(3442-3444)ggC>ggT	p.G1148G		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1148	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCAAGACAGGCCTGATCCACT	0.463												
MYH4	4622	broad.mit.edu	37	17	10352234	10352234	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr17:10352234G>A	uc002gmn.3	-	30	4423	c.4312C>T	c.(4312-4314)Cga>Tga	p.R1438*	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1438					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						GCATTAGATCGTTCCACATCA	0.438												
DDX5	1655	broad.mit.edu	37	17	62500099	62500102	+	Splice_Site	DEL	ACAG	ACAG	-			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr17:62500099_62500102delACAG	uc010deh.2	-	4	484	c.441_splice	c.e4+1	p.S147_splice	DDX5_uc002jek.2_Splice_Site_p.S147_splice|DDX5_uc002jej.2_Splice_Site_p.S42_splice|DDX5_uc010wqa.1_Intron|MIR5047_uc021ubs.1_5'Flank|DDX5_uc002jel.1_5'Flank	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.	147	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCCAAACTTACAGACAATGTTTT	0.397			T	ETV4	prostate							
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr18:14513675T>C	uc010dln.3	-	9	1973	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	507								p.K507E(4)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284												
CPAMD8	27151	broad.mit.edu	37	19	17122460	17122460	+	Silent	SNP	G	G	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr19:17122460G>T	uc002nfb.3	-	3	548	c.516C>A	c.(514-516)ggC>ggA	p.G172G		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	125						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AAGCGCCCCGGCCGTCCACGG	0.672												
ZNF626	199777	broad.mit.edu	37	19	20807475	20807475	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr19:20807475C>G	uc002npb.1	-	3	1358	c.1208G>C	c.(1207-1209)gGc>gCc	p.G403A	ZNF626_uc002npc.1_Missense_Mutation_p.G327A	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AAAAGCTTTGCCACATTCTTC	0.398												
PRODH2	58510	broad.mit.edu	37	19	36303630	36303630	+	Silent	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr19:36303630G>A	uc002obx.1	-	1	324	c.306C>T	c.(304-306)ggC>ggT	p.G102G		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	102					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGAAGGCCCCGCCATCAAAGC	0.652												
PSG3	5669	broad.mit.edu	37	19	43376102	43376102	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr19:43376102C>T	uc002ovd.1	-	2	664	c.526G>A	c.(526-528)Gca>Aca	p.A176T	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.A176T|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Intron|PSG3_uc002ova.2_Intron|PSG3_uc002ouz.2_Missense_Mutation_p.A176T|PSG3_uc002ovb.3_Missense_Mutation_p.A176T	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	176	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region		p.A176T(1)|p.D175D(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				AGGTAGCTTGCGTCTGGAGTC	0.527												
ZNF8	7554	broad.mit.edu	37	19	58806753	58806753	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr19:58806753G>A	uc002qry.1	+	3	1709	c.1579G>A	c.(1579-1581)Gga>Aga	p.G527R	ZNF8_uc002qrz.3_Non-coding_Transcript	NM_021089	NP_066575	P17098	ZNF8_HUMAN	Homo sapiens zinc finger protein 8 (ZNF8), mRNA.	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		CTCTGCAGGCGGAGCAAAGGC	0.557												
BIRC6	57448	broad.mit.edu	37	2	32740406	32740406	+	Missense_Mutation	SNP	G	G	A	rs112352145		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:32740406G>A	uc010ezu.3	+	54	11052	c.10918G>A	c.(10918-10920)Gct>Act	p.A3640T		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	3640					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.A3612S(1)|p.A3640S(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GAGGAGTCTGGCTAGTTTCTG	0.438												
RGPD4	285190	broad.mit.edu	37	2	108476261	108476261	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:108476261C>T	uc010ywk.2	+	11	1800	c.1718C>T	c.(1717-1719)cCt>cTt	p.P573L	RGPD4_uc002tdu.3_5'UTR|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	573					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GGCCTTCAACCTGCTCTGCTT	0.328												
GCC2	9648	broad.mit.edu	37	2	109103046	109103046	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:109103046C>T	uc002tec.3	+	15	4026	c.3872C>T	c.(3871-3873)aCg>aTg	p.T1291M	GCC2_uc002ted.3_Missense_Mutation_p.T1190M	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	1291					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						CACCAGCGTACGCTAAGTGCA	0.502												
ITGA4	3676	broad.mit.edu	37	2	182386969	182386969	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:182386969G>A	uc002unu.3	+	17	2737	c.1974G>A	c.(1972-1974)atG>atA	p.M658I	ITGA4_uc010frj.1_Missense_Mutation_p.M140I|ITGA4_uc002unv.3_5'UTR	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	658					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AGACATTGATGTTGAATGTGT	0.333												
VIL1	7429	broad.mit.edu	37	2	219301876	219301876	+	Silent	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:219301876C>T	uc002vib.3	+	15	2023	c.2001C>T	c.(1999-2001)aaC>aaT	p.N667N	VIL1_uc010zke.2_Silent_p.N356N|VIL1_uc002via.3_Silent_p.N667N	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	667	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AACATGCCAACGAGGAGGAGA	0.572												
PAX3	5077	broad.mit.edu	37	2	223084911	223084911	+	Missense_Mutation	SNP	G	G	A	rs45607236		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:223084911G>A	uc010fwo.3	-	6	1502	c.1121C>T	c.(1120-1122)tCg>tTg	p.S374L	PAX3_uc002vmt.2_Missense_Mutation_p.S374L|PAX3_uc002vmy.2_Missense_Mutation_p.S373L|PAX3_uc002vmv.2_Missense_Mutation_p.S374L|PAX3_uc002vmw.2_Missense_Mutation_p.S374L|PAX3_uc002vmx.2_Missense_Mutation_p.S374L	NM_181457	NP_852122	P23760	PAX3_HUMAN	Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.	374					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S374S(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGGGCCCCGACGGAGGCAC	0.552			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome					
C2orf57	165100	broad.mit.edu	37	2	232457869	232457869	+	Silent	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:232457869C>T	uc002vrz.3	+	0	295	c.207C>T	c.(205-207)gaC>gaT	p.D69D		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	Homo sapiens chromosome 2 open reading frame 57 (C2orf57), mRNA.	69										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		GAGACAAAGACAAGAGTGCAG	0.532												
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr20:29628243T>C	uc010ztl.1	+	2	187	c.155T>C	c.(154-156)tTg>tCg	p.L52S	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.L4S					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363												
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr20:29628245G>A	uc010ztl.1	+	2	189	c.157G>A	c.(157-159)Gcc>Acc	p.A53T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.A5T					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353												
GTSF1L	149699	broad.mit.edu	37	20	42355070	42355070	+	Missense_Mutation	SNP	C	C	T	rs143516837	byFrequency	TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr20:42355070C>T	uc002xld.3	-	0	573	c.265G>A	c.(265-267)Gat>Aat	p.D89N	GTSF1L_uc002xlc.3_Missense_Mutation_p.D89N	NM_176791	NP_789761	Q9H1H1	GTSFL_HUMAN	Homo sapiens gametocyte specific factor 1-like (GTSF1L), transcript variant 1, mRNA.	89							metal ion binding	p.D89G(1)		endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGGGTGTCATCGTTCTGCTCT	0.517												
SPINLW1-WFDC6	57119	broad.mit.edu	37	20	44171338	44171338	+	Splice_Site	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr20:44171338C>T	uc010zxc.2	-	3	460	c.391_splice	c.e3+1	p.Q131_splice	SPINLW1-WFDC6_uc002xou.3_Splice_Site_p.R131_splice|SPINLW1-WFDC6_uc002xov.2_3'UTR	NM_001198986	NP_001185915	A6PVD6	A6PVD6_HUMAN	Homo sapiens SPINLW1-WFDC6 readthrough (SPINLW1-WFDC6), mRNA.	131						extracellular region	serine-type endopeptidase inhibitor activity										CTAGGACTTACGTTTATTCTT	0.507												
COL6A2	1292	broad.mit.edu	37	21	47537831	47537831	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr21:47537831G>A	uc002zia.1	+	11	1179	c.1097G>A	c.(1096-1098)cGa>cAa	p.R366Q	COL6A2_uc002zhz.1_Missense_Mutation_p.R366Q|COL6A2_uc002zhy.1_Missense_Mutation_p.R366Q	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	366	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCAGGGGAGCGAGGAGACCAA	0.682												
EMID1	129080	broad.mit.edu	37	22	29621149	29621149	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr22:29621149C>T	uc003aem.3	+	3	422	c.347C>T	c.(346-348)cCc>cTc	p.P116L	EMID1_uc003aen.3_Missense_Mutation_p.P114L	NM_133455	NP_597712	Q96A84	EMID1_HUMAN	Homo sapiens EMI domain containing 1 (EMID1), mRNA.	114						collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						TCCTTGGAGCCCATGTGGTCG	0.637												
SFI1	9814	broad.mit.edu	37	22	31985517	31985517	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr22:31985517C>T	uc003ale.3	+	14	1891	c.1498C>T	c.(1498-1500)Cgc>Tgc	p.R500C	SFI1_uc003ald.1_Missense_Mutation_p.R476C|SFI1_uc003alf.3_Missense_Mutation_p.R469C|SFI1_uc003alg.3_Missense_Mutation_p.R418C|SFI1_uc011alp.2_Missense_Mutation_p.R418C|SFI1_uc011alq.2_Missense_Mutation_p.R445C|SFI1_uc003alh.3_Non-coding_Transcript|SFI1_uc010gwi.3_Non-coding_Transcript	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	500					G2/M transition of mitotic cell cycle	centriole|cytosol		p.R500H(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CTGGCGATGGCGCCACCAGGA	0.532												
CCR8	1237	broad.mit.edu	37	3	39374277	39374277	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr3:39374277C>T	uc010hhr.2	+	1	593	c.455C>T	c.(454-456)aCg>aTg	p.T152M	CCR8_uc003cjm.2_Missense_Mutation_p.T69M|CCR8_uc021wwe.1_Missense_Mutation_p.T152M	NM_005201	NP_005192	P51685	CCR8_HUMAN	Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA.	152					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		ATGGGCACAACGCTGTGCCTG	0.502												
CAMKV	79012	broad.mit.edu	37	3	49898275	49898275	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr3:49898275T>C	uc003cxt.1	-	7	842	c.649A>G	c.(649-651)Aat>Gat	p.N217D	CAMKV_uc011bcy.1_Missense_Mutation_p.N142D|CAMKV_uc003cxv.1_Missense_Mutation_p.N189D|CAMKV_uc003cxw.1_Missense_Mutation_p.N49D|CAMKV_uc003cxx.1_Missense_Mutation_p.N49D|CAMKV_uc003cxu.2_Missense_Mutation_p.N217D|CAMKV_uc011bcz.1_Missense_Mutation_p.N180D|CAMKV_uc011bda.1_Missense_Mutation_p.N174D|CAMKV_uc011bdb.1_Non-coding_Transcript	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	217	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AAAGGTGGATTGCCTGAAAGC	0.512												
NSUN3	63899	broad.mit.edu	37	3	93813043	93813043	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr3:93813043G>C	uc003drl.1	+	3	642	c.526G>C	c.(526-528)Gaa>Caa	p.E176Q		NM_022072	NP_071355	Q9H649	NSUN3_HUMAN	Homo sapiens NOP2/Sun domain family, member 3 (NSUN3), mRNA.	176							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						GCAGACGTTGGAATCTTTCAT	0.368												
RBM47	54502	broad.mit.edu	37	4	40440502	40440502	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr4:40440502G>A	uc003gvc.2	-	3	1119	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	RBM47_uc003gvd.2_Missense_Mutation_p.R137C|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.R99C|RBM47_uc003gvg.1_Missense_Mutation_p.R137C	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	137	RRM 1.					nucleus	nucleotide binding|RNA binding	p.R137C(4)|p.I136I(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGGCCCGGGCGGATCTCGTAG	0.622												
KDR	3791	broad.mit.edu	37	4	55955885	55955885	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr4:55955885C>T	uc003has.3	-	23	3579	c.3277G>A	c.(3277-3279)Gtt>Att	p.V1093I	KDR_uc003hat.1_Missense_Mutation_p.V1093I	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1093	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CACAGCAAAACACCAAAAGAC	0.433			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)		
BMP2K	55589	broad.mit.edu	37	4	79772148	79772148	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr4:79772148G>A	uc003hlk.3	+	6	987	c.821G>A	c.(820-822)tGt>tAt	p.C274Y	BMP2K_uc010ijl.1_Non-coding_Transcript|BMP2K_uc003hlj.3_Missense_Mutation_p.C274Y	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA.	274	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						GTTGCTATCTGTGATGGCAAC	0.363												
ENPEP	2028	broad.mit.edu	37	4	111397732	111397732	+	Silent	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr4:111397732G>A	uc003iab.4	+	0	504	c.162G>A	c.(160-162)gcG>gcA	p.A54A		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	54					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	p.A54A(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CGGGCACTGCGCCAGCTCCTT	0.647												
C4orf46	201725	broad.mit.edu	37	4	159590866	159590866	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr4:159590866C>T	uc003iqa.2	-	1	490	c.241G>A	c.(241-243)Gtg>Atg	p.V81M	C4orf46_uc010iqp.1_Non-coding_Transcript|ETFDH_uc010iqq.3_5'Flank|ETFDH_uc003iqb.3_5'Flank|ETFDH_uc011cjg.2_5'Flank|ETFDH_uc010iqr.3_5'Flank	NM_001008393	NP_001008394	Q504U0	CD046_HUMAN	Homo sapiens chromosome 4 open reading frame 46 (C4orf46), mRNA.	81										kidney(1)|lung(3)|skin(1)	5						AGTTCTTCCACTTGAGCTGAT	0.363												
HCN1	348980	broad.mit.edu	37	5	45695840	45695840	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr5:45695840G>A	uc003jok.3	-	0	381	c.356C>T	c.(355-357)gCg>gTg	p.A119V		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	119	Involved in subunit assembly (By similarity).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTTTTCCACCGCCTTCTGGCT	0.602												
TMEM161B	153396	broad.mit.edu	37	5	87516531	87516531	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr5:87516531G>C	uc003kjc.3	-	4	420	c.295C>G	c.(295-297)Cat>Gat	p.H99D	TMEM161B_uc011cty.2_Missense_Mutation_p.H88D|TMEM161B_uc010jax.3_Non-coding_Transcript|TMEM161B_uc011ctz.1_5'UTR|TMEM161B_uc011ctx.2_5'UTR	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN	Homo sapiens transmembrane protein 161B (TMEM161B), mRNA.	99						integral to membrane		p.H99Y(2)		endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		GGAAAGTAATGCAATGCTGGa	0.299												
BRD8	10902	broad.mit.edu	37	5	137485483	137485483	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr5:137485483C>T	uc003lcf.1	-	22	3179	c.3124G>A	c.(3124-3126)Gag>Aag	p.E1042K		NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	1042					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGCTGAGCCTCCCCCTAGGAA	0.458												
PCDHB14	56122	broad.mit.edu	37	5	140605384	140605384	+	Silent	SNP	G	G	A	rs147177582		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr5:140605384G>A	uc003ljb.3	+	0	2307	c.2307G>A	c.(2305-2307)ccG>ccA	p.P769P		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	769					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTGAAGCCGATTATCCCCA	0.448												
ARAP3	64411	broad.mit.edu	37	5	141035273	141035273	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr5:141035273G>A	uc003llm.3	-	30	4103	c.4025C>T	c.(4024-4026)gCc>gTc	p.A1342V	ARAP3_uc003lll.3_Missense_Mutation_p.A293V|ARAP3_uc011dbe.2_Missense_Mutation_p.A1004V|ARAP3_uc003lln.3_Missense_Mutation_p.A1173V	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	1342					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTTCTGACGGGCAAGGTCAGA	0.592												
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
DCSTAMP	81501	broad.mit.edu	37	8	105361477	105361477	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr8:105361477C>T	uc003ylx.1	+	1	746	c.697C>T	c.(697-699)Cga>Tga	p.R233*		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	233					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											CTTCATGAAGCGATTTTTGGG	0.498												
TG	7038	broad.mit.edu	37	8	134144071	134144071	+	Silent	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr8:134144071G>A	uc003ytw.3	+	45	7919	c.7878G>A	c.(7876-7878)gcG>gcA	p.A2626A	TG_uc010mdw.3_Silent_p.A1385A|TG_uc011ljb.2_Silent_p.A995A|TG_uc011ljc.2_Silent_p.A759A	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2626					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCTGCTGGCGGATGTTCAGT	0.458												
DNAI1	27019	broad.mit.edu	37	9	34489407	34489407	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr9:34489407T>A	uc003zum.3	+	4	541	c.348T>A	c.(346-348)gaT>gaA	p.D116E		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	116					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		AAGACTCAGATGAAGGACGGC	0.527									Kartagener syndrome			
ZNF462	58499	broad.mit.edu	37	9	109688130	109688130	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr9:109688130A>C	uc004bcz.3	+	2	2226	c.1937A>C	c.(1936-1938)gAc>gCc	p.D646A	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.D494A|ZNF462_uc004bda.3_Missense_Mutation_p.D494A	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	646					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AATGAGACAGACAGCCACCCC	0.463												
MTMR8	55613	broad.mit.edu	37	X	63569901	63569901	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chrX:63569901A>C	uc004dvs.3	-	4	608	c.518T>G	c.(517-519)tTg>tGg	p.L173W	MTMR8_uc011mou.2_Missense_Mutation_p.L173W	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	173	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CACCGTTCCCAAGGTAACAGA	0.348